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myrawjcsmicasereports · 16 days ago

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Diversity of Radiological Imaging and Clinical Course in Pulmonary MALT Lymphoma by Aras G1, Zirek Mandal T1, Kanmaz D1, Pehlivan S1, Fener N2, Özbek in Journal of Clinical Case Reports Medical Images and Health SciencesM3.

Abstract :

A 59-year-old male patient was admitted to the emergency department with a three-month history of worsening dyspnea, fatigue, and cough. His vital signs were recorded as follows: blood pressure 138/88 mmHg, heart rate 98 beats/min, respiratory rate 25 breaths/min, temperature 37.8°C, and oxygen saturation 91%. During the lung auscultation, breath sounds were absent in the lower left lung, while crepitant rales were audible in the upper zone and the right lung. CT scan of the chest showed 1 cm lymph nodes, pleural effusion, fibrotic changes, varicose-cystic bronchiectasis, as well as consolidations and atelectasis with air bronchograms in both lungs. Furthermore, thoracic ultrasonography revealed a large effusion in the left hemithorax, measuring 11 cm. He was hospitalized after the placement of a pleural catheter. Radiological diversity and the clinical course of the patient posed challenges for establishing a differential diagnosis. TL; DR: In this paper; we aimed to present a case of MALT lymphoma that manifested in the lung and caused diagnostic confusion with radiological and clinical symptoms.

Introduction:

MALT (Mucosa-Associated Lymphoid Tissue) is the lymphoid tissue that plays a role in mucosal defense. It includes functional memory B lymphocytes, which are essential for the immune response. They are not physiologically present in the lungs, but they become active there in response to infections and chronic antigenic stimulation. Marginal zone B-cell non-Hodgkin lymphoma (MALT Lymphoma) accounts for 8% of adult lymphomas. Although it is most commonly seen in the stomach, it can also be seen in the salivary glands, thyroid and lungs (1). It is the most common type of lymphoma in the lung. It presents common radiological, pathological, and clinical findings with infection and other granulomatous diseases, making differential diagnosis quite difficult for the clinician.In this paper, we aimed to present our case, which we had difficulty in diagnosing in the clinic.

Case Presentation:

A 59-year-old male patient was admitted to the emergency department with worsening dyspnea, fatigue, and cough over the past three months. The chest X-ray of the patient showed a consolidation extending from the center to the periphery in the left upper zone near the aortic arch, an increased density indicative of pleural effusion with sinus obliteration on the left, and a consolidation extending from the hilum to the lower zone near the heart edge During the lung auscultation, breath sounds were absent in the lower left lung, while crepitant rales were detected in the upper zone and on the right side. Blood pressure was 138/88 mmHg, pulse was 98 beats /min, respiratory rate was 34 breaths/min, and oxygen saturation was 91%. At the time of admission, the patient's biochemical analysis results were as follows: Glucose 77 mg/dL (normal range: 70-115), urea 31 mg/dL (normal range: 17-43), creatinine 0.77 mg/dL, protein 65.8 g/L (normal range: 66- 83), albumin 39.3 g/dL (normal range: 35-53), LDH 423 U/L (normal range: <247), CRP 21.6 mg/L, procalcitonin <0.01ng/mL, and pro-BNP 8 pg/mL. The hemogram evaluation results were as follows: Leukocyte count 8.27 x 10³/µL, Erythrocyte count 5.16 x 10⁶/uL, Hemoglobin 15.6 g/ dL, Hematocrit (Hct) 48.3%, Platelet count 240,000/uL, Lymphocyte count 2.05 x 10³/uL, Eosinophils 3.4%, and Neutrophil/Lymphocyte ratio 2.47 x 10e3/uL.

The patient’s chest CT scan showed 1 cm lymph nodes in the mediastinum, fibrotic changes extending to the pleura, varicose-cystic bronchiectasis, and consolidations and atelectasis with air bronchograms in both lungs. There was also a massive fluid of 11 cm in the left hemithorax. (Figure 2). A thoracentesis was conducted on the patient’s left side following the detection of 13 cm of pleural fluid on thoracic ultrasonography. Lymphocytes, polymorphonuclear leukocytes, and mesothelial cells were observed in the cytological examination of the pleural fluid, but no atypical cells were detected. There was 98% lymphocyte dominance in the cell count. In the biochemical analysis, the pH was 7.440, lactate dehydrogenase (LDH) was 206 U/L, total protein was 39.40 g/dL, albumin was 25 g/dL, glucose was 60 mg/dL, and adenosine deaminase (ADA) was 34.4 U/L. Gram staining of the fluid, bacterial, fungal, and acid-fast bacilli growth were all negative. The patient's fluid was drained by aspiration. An intrapleural catheter was placed due to the high amount of fluid and increased dyspnea. The patient was admitted to the ward and initiated on oxygen therapy, bronchodilators, and antibiotics. The pleural fluid sent for cytological analysis two more times during the patient's hospitalization was found to be serohemorrhagic. Upon reevaluating his microbiological results, no growth was observed. Although many lymphoid cells were seen in the cytopathological examination of the patient's second pleural fluid, no atypical features were monitored. The patient's condition stabilized during clinical follow-up, and the pleural catheter was removed. However, after a while, the patient's dyspnea complaint recurred and the catheter was placed again because of the increase in fluid on the radiograph (Figure 3). There was no change in the infection markers of the patient, who also had fever from time to time, and CRP ranged between 20 and 16 mg/dL during follow-up. There was no growth in his small amount of sputum and blood cultures taken during the fever. The patient underwent fiberoptic bronchoscopy and no endobronchial lesions were detected. Wang fine needle aspiration and bronchial lavage were applied to mediastinal lymphadenomegaly Wang IA revealed lymphoid cells, but a definitive diagnosis could not be obtained. No findings were found in the lavage other than bronchial epithelial cells and polymorphonuclear leukocytes

No FDG uptake was detected in the pleural fluid during the patient's whole-body positron emission tomography (PET-CT) scan, though minimal FDG uptake was observed in certain pleural areas. Consolidated/ground glass foci with the focal lepidic appearance in places were detected with left lung lingular, lower lobe central SUVmax 9.14, and right lung lower lobe SUVmax 6.55 and were evaluated to be in favor of malignant processes. Abdominal ultrasonography was unremarkable. No extrapulmonary findings were monitored in PET-CT scan either.

When Wang IA did not yield any results, endoscopic ultrasonographic bronchoscopy (EBUS) was performed. The pathological interpretation was in favor of granulomatous inflammation, as mature transformed lymphocytes, polymorphonuclear leukocytes, epithelioid histiocytes, and loose granuloma-like structures formed by epithelioid histiocyte clusters and multinucleated giant cells were observed in the materials obtained. Alveolar sarcoidosis was taken into account, but the serum angiotensin converting enzyme level was also found to be normal at 39.1 U/L (8- 52.0).

The patient was discharged due to the clinical stability of the patient with CRP 3.2 and procalcitonin <0.01 and was called for a follow-up at a later date. In the meantime, the patient was discussed at the surgical council. A decision was made to perform video-assisted thoracoscopy due to the fluid not regressing, increased dyspnea, and malignant involvement in PET-CT.

During the procedure conducted under general anesthesia, 400 cc of fluid was aspirated. Biopsies were obtained from two distinct areas of the pleura and from a nodular region on the diaphragm, followed by talc pleurodesis. Samples were sent to microbiology and pathology. The patient, having experienced no complications, was discharged following the procedure . Pathology: Samples taken from the parietal pleura and the nodule on the diaphragm were evaluated as low-grade non-Hodgkin Lymphoma and interpreted as extra-nodal marginal zone lymphoma (MALT) by the pathologist .

Discussion

Clinical: The patient, who had been admitted to the emergency room with symptoms of dyspnea, hypoxia, and fever, was hospitalized after pleural fluid was exudate and consolidation was detected. Although the patient's clinical symptoms were severe, CRP was moderately high, and the occasional fever despite antibiotic therapy during hospitalization suggested diagnoses such as malignancy and tuberculosis, in addition to non-specific infection. Lymphomatous proliferation can involve the lung in various ways. Non-Hodgkin or Hodgkin lymphoma can present in the lung through hematogenous spread or by invading from adjacent mediastinal lymph nodes. However, primary involvement of the lung is also possible. Primary lymphomas should not have extra-pulmonary organ involvement for at least 3 months after diagnosis. The most common are MALT and effusion lymphomas (2). Effusion lymphomas may involve the pericardial and peritoneal cavities, with the most common primary involvement being the pleura, without solid organ involvement. Human-Herpes-8 infection and EBV may be accompanied by fever and lymphocytic-exudative fluid. HHV-8 negative cases have a better prognosis (3). In this case, there was also an exudative pleural effusion. However, although pleural involvement was not detected in the fluid cytological examination, pleural involvement was detected in biopsies. However, it is not possible to say that the patient only has effusion lymphoma (PEL). MALT (Mucosa-associated Lymphoid Tissue) lymphoma is the type of lymphoma that most commonly involves pulmonary tissue, is often asymptomatic, and shows radiological alveolar opacities. Although it is more commonly affected in people aged 50-60, it can rarely be seen under the age of 30. It constitutes 60% of pulmonary lymphomas. Weight loss and fever are especially prominent during the aggressive phase, though the condition may initially be asymptomatic. Autoimmune disease may be the basis in 16% of cases (1,4). The prognosis of MALT lymphomas is good; 5–10-year survival is more than 80% (5).

Radiological:

MALT lymphoma exhibits radiological variability, appearing as single or multiple bilateral lesions on both chest radiography and thoracic tomography. Chronic alveolar localized opacities smaller than 5 cm on radiography are accompanied by consolidation in 50% of cases. Diffuse reticulonodular opacity, atelectasis, and pleural effusion are detected in less than 10% of cases (1). In our case, there was also pleural fluid along with similar findings. Findings such as consolidation (60-77%) with air bronchogram and increased vascularity or multiple mass nodules, ground glass, halo sign, galaxy sign specific to tuberculosis and sarcoidosis have been reported in case series and reports. In addition, varicose cystic bronchiectasis secondary to consolidation can be detected. However, it is not possible to state that these findings are specific to MALT lymphoma. These radiological images are also observed in adenocarcinoma, pneumonia, metastases, sarcoidosis, and tuberculosis (6,7). In this case, chest X-ray revealed bilateral multifocal consolidation and densities indicative of pleural effusion. Consolidation, pleural effusion, varicose cystic bronchiectasis changes and mediastinal lymphadenomegaly were detected on thoracic tomography. None of these radiological findings were specific to lymphoma and diagnosis could not have been made without pathological examination. The partial alleviation of the patient's clinical symptoms compared to the beginning and the patient's relief with the drainage of the pleural fluid suggested possibilities such as infection, alveolar sarcoidosis, or adenocarcinoma when we did not have pathological data. Nevertheless, when intermittent fevers began to occur during the clinical course, it was obvious that lymphoma could not be excluded from the diagnosis. No endobronchial lesion was detected in the bronchoscopy performed on the patient; Wang fine needle aspiration and then endobronchial ultrasonographic biopsy were performed for mediastinal lymphadenomegaly. The sensitivity and specificity of positron emission tomography (PET-CT) in lymphoma varies according to organ involvement. It has been reported as 80-100% in lung involvement (8, 9). In our case, high SUVmax FDG uptake in consolidated foci in lepidic structure was monitored in PET-CT, and pleural uptake was minimal. The presence of clinical symptoms and high FDG uptake necessitated a video-assisted-thoracoscopic (VATS) procedure.

Pathological:

In the pleural fluid sample examined at the start of the treatment, abundant lymphoid cells were detected, but no atypical structures were observed. There were findings of granulomatous inflammation in the samples obtained from the mediastinal lymph nodes of the patient. In fact, in the biopsy samples taken by video-assisted thoracoscopy, lowgrade B-cell non-Hodgkin Lymphoma (CD20 positive (diffuse cells), anti-BCL-2 positive, anti Ki-67 low positive) and extranodal marginal zone lymphoma were detected in the parietal pleura. Pathologically, the lymphomatous infiltrate in MALT lymphoma exhibits heterogeneous features and consists of small lymphocytes, centrocyte-like cells, monocytoid B cells, rarely large transformed cells and plasma cells (10). Necrosis is rare. Neoplastic cells are expressed in CD 20 and CD 79. Ki67 index is lower than 20%. Lymphoma and sarcoidosis are similar in terms of clinical and radiological phenotype. Distinguishing lowgrade lymphomas from sarcoid lesions can be challenging; sarcoid granulomatous lesions may be accompanied by lymphoid cell infiltration. In addition, sarcoid-like reactions are frequently seen in malignant lymphomas. Moreover, sarcoidosis-lymphoma syndrome was first described in the study by Brincker et al. They reported that lymphoma was 5.5 times more common in sarcoidosis patients than in the general population, indicating the presence of sarcoidosis years before lymphoma (11, 12). Kokuho N et al reported MALT lymphoma in the lung for the first time in a ten-year-old sarcoidosis case with ocular, gastric and lung involvement (13). In this case, granulomatous inflammation was detected in mediastinal LAMs, but no findings of sarcoidosis were found in ocular, cardiac, renal examinations, angiotensinconverting enzyme, calcium, alkaline phosphatase, and 24- hour urine calcium analyses. There was also no abnormality in abdominal ultrasonography. We believe that the granulomatous inflammation in our case was reactive to immune deficiency.

Conclusion The patient was started on Rituximab treatment by the hematology department. Clinical and radiological improvement was observed following treatment. In the follow-up PET-CT examination, regression in consolidated areas, decrease in FDG uptake, and metabolic partial regression were detected compared to the initial examination (Figure 6). Lymphomas, which do not have specific radiological and symptomatic features, can mimic most diseases of the respiratory system and do not present with a noisy picture, requiring the clinician to be persistent in making the diagnosis.

References:

1. Borie R, Wislez M, Antoine M, Cadranel J (2017), Lymphoproliferative Disorders of the Lung. Respiration 94:157-175 2. Cadranel J, Wislez M, Antoine M (2002), Primary pulmonary lymphoma. Eur Respir J 20:750-62 3. Kattih Z, Mahajan A, Vojnic M, et al. (2022), Rapidly Accumulating Effusion in an Immunocompetent Woman, Chest 161: e377-e382 4. Wislez M, Thabut G, Antoine M et al. (2009); Clinical characteristics and prognostic factors of pulmonary MALT lymphoma. European Respiratory Journal 234: 1408-1416 5. Koss MN (2004) Malignant and benign lymphoid lesions of the lung. Ann Diagn Pathol 8:167-87 6. Song Y, Sung YE, Beck KS, et al. (2023) Radiological and pathological analysis of the galaxy sign in patients with pulmonary mucosaassociated lymphoid tissue (MALT) lymphoma. Thorac Cancer 14:2459-2466 7. Deng W, Wan Y, Yu JQ (2019) Pulmonary MALT Lymphoma has variable features on CT. Scientific Reports 9:8657 8. Albano D, Borghesi A, Bosio G, et al (2017) Pulmonary mucosaassociated lymphoid tissue lymphoma: 18F-FDG PET/CT and CT findings in 28 patients. Br J Radiol 90:20170311 9. Enomoto K, Hamada K, Inohara H, et al (2008) Mucosa-associated lymphoid tissue lymphoma studied with FDG-PET: a comparison with CT and endoscopic findings. Ann Nucl Med 22:261-267 10. Pina-Oviedo S, Roggli VL, Sporn TA, et al (2023) Diagnostic Approach to Pulmonary B-Cell Lymphomas in Small Biopsies, with Practical Recommendations to Avoid Misinterpretation. Diagnostics (Basel) 13:3321 11. Brincker H (1986) The sarcoidosis-lymphoma syndrome. Br J Cancer 54:467–73 12. El Jammal T, Pavic M, Gerfaud-Valentin M, et al. Sarcoidosis and Cancer: A Complex Relationship. Front Med (Lausanne) (2020) 24:594118 13. Kokuho N, Terasaki Y, Urushiyama H, et al. (2016) Pulmonary mucosa-associated lymphoid tissue lymphoma associated with pulmonary sarcoidosis: a case report and literature review. Hum Pathol 51:57-63

#Diversity #Radiological Imaging #d Clinical #Course in Pulmonary MALT Lymphoma #jcrmhs #Journal of Clinical Case Reports Medical Images and Health Sciences.

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toto7788officialsite · 1 month ago

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7 Obat Termahal Sejagat, Ada yang Tembus Rp60 Miliar!

Dalam beberapa tahun terakhir, perkembangan ilmu pengetahuan dan teknologi di bidang kesehatan telah menghasilkan obat-obatan yang tidak hanya inovatif, tetapi juga sangat mahal. Biaya tinggi ini sering kali disebabkan oleh proses penelitian yang panjang, pengembangan yang rumit, dan biaya produksi yang signifikan. Beberapa obat bahkan menembus harga ratusan ribu hingga miliaran rupiah. Berikut adalah tujuh obat termahal di dunia yang mencengangkan, dengan beberapa di antaranya mencapai harga di atas Rp60 miliar.

1. Zolgensma (Nusinersena)

Zolgensma adalah obat yang digunakan untuk mengobati spinal muscular atrophy (SMA), penyakit genetik yang mempengaruhi saraf dan otot. Obat ini dirancang untuk memberikan terapi gen dengan cara mengisi gen SMN1 yang hilang atau tidak berfungsi pada pasien. Zolgensma diproduksi oleh Novartis dan menjadi salah satu obat termahal di dunia, dengan harga sekitar USD 2.125.000 atau sekitar Rp32 miliar per dosis.

Proses pengembangan Zolgensma memakan waktu lebih dari satu dekade dan melibatkan riset yang mendalam. Harga tinggi obat ini dipengaruhi oleh kompleksitas produksi dan pentingnya terapi yang diberikan bagi pasien SMA, di mana pengobatan dini dapat mencegah perkembangan penyakit yang parah.

2. Luxturna (Voretigene Neparvovec)

Luxturna adalah obat terapi gen yang digunakan untuk mengobati penyakit mata genetik yang menyebabkan kebutaan, seperti retinitis pigmentosa. Obat ini juga memerlukan prosedur injeksi ke dalam mata dan dikembangkan oleh Spark Therapeutics. Harganya diperkirakan sekitar USD 850.000 atau sekitar Rp12,8 miliar per pasien.

Luxturna bekerja dengan mengantarkan salinan gen yang berfungsi ke sel-sel retina, memberikan harapan baru bagi pasien yang sebelumnya tidak memiliki pilihan pengobatan. Meskipun harga tinggi, efektivitas Luxturna dalam memperbaiki penglihatan pasien sangat signifikan, sehingga banyak yang menganggapnya sebagai investasi berharga dalam kesehatan mata.

3. Actimmune (Interferon gamma-1b)

Actimmune adalah obat yang digunakan untuk mengobati penyakit langka seperti osteopetrosis dan chronic granulomatous disease (CGD). Obat ini bekerja dengan merangsang sistem kekebalan tubuh untuk melawan infeksi. Harga Actimmune bisa mencapai USD 500.000 atau sekitar Rp7,5 miliar per tahun.

Meskipun harga tersebut terlihat tinggi, bagi pasien dengan penyakit langka yang memerlukan perawatan khusus, biaya ini dapat dianggap wajar jika dibandingkan dengan potensi kualitas hidup yang diperoleh. Keberhasilan Actimmune dalam meningkatkan sistem kekebalan tubuh telah membantu banyak pasien dalam menghadapi tantangan penyakit langka.

4. Haffner's Syndrome (Myeloperoxidase deficiency)

Obat yang digunakan untuk mengobati Haffner's Syndrome, sebuah kondisi genetik langka, juga termasuk dalam daftar obat termahal. Biaya perawatan tahunan untuk pasien dengan Haffner's Syndrome bisa mencapai USD 450.000 atau sekitar Rp6,7 miliar.

Penyakit ini mempengaruhi kemampuan tubuh untuk memproduksi enzim myeloperoxidase, yang berfungsi dalam memerangi infeksi. Pasien yang mengalami kondisi ini sangat rentan terhadap infeksi serius, sehingga memerlukan pengobatan yang intensif dan teratur.

5. Soliris (Eculizumab)

Soliris adalah obat yang digunakan untuk mengobati dua penyakit autoimun langka: paroxysmal nocturnal hemoglobinuria (PNH) dan atypical hemolytic uremic syndrome (aHUS). Dikenal sebagai salah satu obat termahal di dunia, harganya mencapai USD 500.000 atau sekitar Rp7,5 miliar per tahun.

Soliris bekerja dengan menghambat sistem kekebalan tubuh yang berlebihan, sehingga mengurangi risiko komplikasi dari penyakit ini. Meskipun biaya tinggi, Soliris menawarkan harapan bagi pasien yang menderita penyakit autoimun langka yang dapat berakibat fatal.

6. Kymriah (Tisagenlecleucel)

Kymriah adalah terapi sel CAR-T yang digunakan untuk mengobati kanker darah, seperti leukemia limfoblastik akut. Proses pembuatan Kymriah melibatkan pengambilan sel-sel darah pasien, kemudian memodifikasinya di laboratorium untuk meningkatkan kemampuan melawan kanker. Harganya mencapai USD 373.000 atau sekitar Rp5,5 miliar.

Terapi ini memberikan harapan baru bagi pasien kanker yang tidak merespons pengobatan lain. Meskipun biayanya tinggi, keberhasilan Kymriah dalam menyelamatkan nyawa pasien membuatnya sangat berharga.

7. Danyelza (Naxitamab)

Danyelza adalah obat terbaru yang digunakan untuk mengobati neuroblastoma, jenis kanker yang umum terjadi pada anak-anak. Dengan harga sekitar USD 1.200.000 atau sekitar Rp18 miliar, Danyelza menawarkan solusi inovatif dalam pengobatan kanker pada anak.

Obat ini bekerja dengan menargetkan sel-sel kanker dan merangsang sistem kekebalan tubuh untuk melawannya. Meskipun harganya sangat tinggi, potensi Danyelza untuk meningkatkan harapan hidup pasien kanker anak sangat signifikan.

Faktor Penyebab Tingginya Harga Obat

Beberapa faktor yang menyebabkan tingginya harga obat-obatan ini antara lain:

Biaya Riset dan Pengembangan: Proses pengembangan obat memerlukan investasi yang sangat besar dalam penelitian dan pengujian klinis. Seringkali, hanya sedikit obat yang berhasil memasuki pasar setelah melewati tahap penelitian yang panjang.

Regulasi yang Ketat: Persetujuan dari badan regulasi seperti FDA memerlukan standar keamanan dan efektivitas yang tinggi. Hal ini membuat biaya produksi meningkat.

Pasar Terbatas: Beberapa obat hanya tersedia untuk penyakit langka yang mempengaruhi sedikit pasien. Dengan basis pasien yang kecil, harga obat harus cukup tinggi untuk menutupi biaya produksi dan pengembangan.

Inovasi Teknologi: Obat yang menggunakan teknologi canggih, seperti terapi gen atau terapi sel, biasanya memiliki biaya produksi yang lebih tinggi, sehingga mempengaruhi harga jual.

Kesimpulan

Obat-obatan termahal di dunia mencerminkan kemajuan luar biasa dalam bidang medis, tetapi juga menyoroti tantangan yang dihadapi dalam hal aksesibilitas dan biaya. Meskipun biaya tinggi dapat menyebabkan kekhawatiran di kalangan pasien dan penyedia layanan kesehatan, efektivitas dan inovasi yang ditawarkan oleh obat-obatan ini memberikan harapan baru bagi mereka yang menderita penyakit serius dan langka.

Penting bagi pemerintah, perusahaan farmasi, dan pemangku kepentingan lainnya untuk bekerja sama dalam menciptakan sistem kesehatan yang berkelanjutan dan terjangkau, sehingga semua pasien dapat memperoleh akses kepada pengobatan yang mereka butuhkan tanpa terbebani oleh biaya yang sangat tinggi. Diskusi mengenai harga obat dan regulasi yang ada harus terus dilakukan untuk memastikan bahwa kemajuan dalam penelitian dan pengembangan obat tidak hanya bermanfaat bagi segelintir orang, tetapi dapat diakses oleh semua lapisan masyarakat.

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maettymae · 2 months ago

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Psoriasis

Neurodermatitis (atopic eczema)

Nodular lichen (lichen ruber)

Prurigo diseases (diseases with itchy papules)

Diseases from the pityriasis group (with desquamation of the skin)

Granulomatous diseases, such as sarcoidosis and granuloma anulare

Seborrhoeic eczema

Seborrhoeic dermatitis

Seborrhoeic keratosis

Atopic dermatitis

Intertrigo

These are the most common chronic skin diseases that dermatologists in Germany do not want to treat. If you also look at this dermatologist's email, chronically ill patients

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drgauravkharya · 2 months ago

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Treatment of Primary Immunodeficiency Diseases and Bone Marrow Transplantation

Primary immunodeficiency diseases (PIDDs) are a diverse group of genetic disorders characterized by defects in the immune system. These disorders result in a heightened susceptibility to infections, autoimmune diseases, and malignancies. Effective management of PIDDs is crucial for improving the quality of life and survival of affected individuals. Among various treatment options, bone marrow transplantation (BMT) has emerged as a promising therapeutic approach, offering the potential for a cure for many patients with severe forms of PIDD.

Understanding Primary Immunodeficiency Diseases

PIDDs arise from inherited genetic mutations that impair the development or function of immune cells, such as T cells, B cells, or phagocytes. These conditions are classified based on the specific immune system components affected. Common examples include Severe Combined Immunodeficiency (SCID), X-linked Agammaglobulinemia (XLA), and Chronic Granulomatous Disease (CGD).

SCID, often referred to as "bubble boy" disease, is characterized by the absence of functional T and B lymphocytes, leading to a severely compromised immune response. XLA is a condition where individuals lack functional B cells, leading to an inability to produce antibodies. CGD involves defects in the ability of phagocytes to kill certain bacteria and fungi.

Treatment Approaches

The management of PIDDs involves a combination of supportive care and specific therapies aimed at correcting the underlying immune defect. Traditional treatments include:

1. Immunoglobulin Replacement Therapy:For conditions like XLA, regular intravenous or subcutaneous infusions of immunoglobulin can provide the missing antibodies, thus reducing the frequency and severity of infections.

2. Antibiotic Prophylaxis:Prophylactic antibiotics can prevent infections in individuals with compromised immune systems.

3. Gene Therapy:An emerging treatment option, gene therapy involves correcting the genetic defect responsible for the PIDD. This approach is still under development and has shown promising results in clinical trials for some disorders.

4. Stem Cell Transplantation:Also known as bone marrow transplantation (BMT), this is a definitive treatment for many severe PIDDs.

5. Bone Marrow Transplantation: Bone marrow transplant involves replacing the defective bone marrow or stem cells of an individual with healthy ones from a donor. This procedure can potentially cure or significantly improve the symptoms of PIDDs. The process can be broken down into several key steps:

1. Pre-Transplant Evaluation: Before the transplant, a thorough evaluation is performed to assess the patient's overall health and suitability for the procedure. This includes blood tests, imaging studies, and sometimes a biopsy.

2. Conditioning Regimen:Patients undergo a conditioning regimen, which involves high-dose chemotherapy and/or radiation therapy to eradicate the defective bone marrow and suppress the immune system. This step is crucial to prevent the recipient's body from rejecting the transplanted cells.

3. Stem Cell Infusion: Healthy stem cells, obtained from a compatible donor (usually a sibling or unrelated donor), are infused into the patient. These stem cells migrate to the bone marrow and begin to produce new, healthy blood cells.

4. Post-Transplant Care:After the transplant, patients require close monitoring and supportive care to manage potential complications, such as graft-versus-host disease (GVHD), infections, and organ dysfunction. Immunosuppressive medications are given to prevent the immune system from attacking the transplanted cells.

Outcomes and Considerations

Bone marrow transplantation can be highly effective, offering a potential cure for many severe PIDDs. Success rates vary depending on the specific disorder, the age of the patient, and the compatibility of the donor. Early diagnosis and prompt treatment are critical for optimizing outcomes.

However, BMT is not without risks. Potential complications include GVHD, where the donor's immune cells attack the recipient's tissues, and long-term issues such as endocrine disorders or secondary malignancies. Ongoing research aims to improve the safety and efficacy of BMT, including the development of less toxic conditioning regimens and better methods for matching donors. It is very important to search best BMT centrefor good results.

Conclusion

The treatment of primary immunodeficiency diseases has evolved significantly, with bone marrow transplantation emerging as a potentially curative option for many severe cases. While supportive therapies and gene therapy continue to play important roles, BMT offers hope for a definitive cure and an improved quality of life for affected individuals. Continued advancements in medical research and technology are essential to further enhance the success and safety of these treatments, ultimately providing better outcomes for patients with PIDDs.

#bone marrow transplant #sickle cell disease #pediatric oncology #hematology #Dr Gaurav kharya

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twinkl22004 · 3 months ago

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“Chronic Granulomatous Disease”, Victor McKusick, Mendelian Inheritance in Man”, 1966.

ABOVE is the twenty-four (24) hour day of CHROMOSOMIC CLOCK and this time is one (#1). Here I present: “Chronic Granulomatous Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. There is vidence that autosomal recessive chronic granulomatous disease-2 (CGD2) is caused by homozygous or compound heterozygous mutation in the NCF2 gene which encodes the p67-phox…

#Victor McKusick

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zany1122 · 5 months ago

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Imukin Injection

Imukin injection is prescribed for the treatment of Chronic Granulomatous Disease (CGD). Know about the working, benefits, drug interactions, and safety precautions. Buy Imukin Injection online on GNH India at best price.

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nursingscience · 6 months ago

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160 NURSING BULLETS: Medical-Surgical Nursing Reviewer

1. Bone scan is done by injecting radioisotope per IV and then x-rays are taken.

2. To prevent edema on the site of sprain, apply cold compress on the area for the first 24 hours.

3. To turn the client after lumbar Laminectomy, use the logrolling technique.

4. Carpal tunnel syndrome occurs due to the injury of median nerve.

5. Massaging the back of the head is specifically important for the client with Crutchfield tong.

6. A one-year-old child has a fracture of the left femur. He is placed in Bryant’s traction. The reason for elevation of his both legs at 90º angle is his weight isn’t adequate to provide sufficient countertraction, so his entire body must be used.

7. Swing-through crutch gait is done by advancing both crutches together and the client moves both legs past the level of the crutches.

8. The appropriate nursing measure to prevent displacement of the prosthesis after a right total hip replacement for arthritis is to place the patient in the position of right leg abducted.

9. Pain on non-use of joints, subcutaneous nodules and elevated ESR are characteristic manifestations of rheumatoid arthritis.

10. Teaching program of a patient with SLE should include emphasis on walking in shaded area.

11. Otosclerosis is characterized by replacement of normal bones by spongy and highly vascularized bones.

12. Use of high-pitched voice is inappropriate for the client with hearing impairment.

13. Rinne’s test compares air conduction with bone conduction.

14. Vertigo is the most characteristic manifestation of Meniere’s disease.

15. Low sodium is the diet for a client with Meniere’s disease.

16. A client who had cataract surgery should taught to call his MD if he has eye pain.

17. Risk for Injury takes priority for a client with Meniere’s disease.

18. Irrigate the eye with sterile saline is the priority nursing intervention when the client has a foreign body protruding from the eye.

19. Snellen’s Test assesses visual acuity.

20. Presbyopia is an eye disorder characterized by lessening of the effective powers of accommodation.

21. The primary problem in cataract is blurring of vision.

22. The primary reason for performing iridectomy after cataract extraction is to prevent secondary glaucoma.

23. In acute glaucoma, the obstruction of the flow of aqueous humor is caused by displacement of the iris.

24. Glaucoma is characterized by irreversible blindness.

25. Hyperopia is corrected by convex lens.

26. Pterygium is caused primarily by exposure to dust.

27. A sterile chronic granulomatous inflammation of the meibomian gland is chalazion.

28. The surgical procedure which involves removal of the eyeball is enucleation.

29. Romberg’s test is a test for balance or gait.

30. If the client with increased ICP demonstrates decorticate posturing, observe for flexion of elbows, extension of the knees, plantar flexion of the feet.

31. The nursing diagnosis that would have the highest priority in the care of the client who has become comatose following cerebral hemorrhage is Ineffective Airway Clearance.

32. The initial nursing action—for a client who is in the clonic phase of a tonic-clonic seizure—is to obtain equipment for orotracheal suctioning.

33. The first nursing intervention in a quadriplegic client who is experiencing autonomic dysreflexia is to elevate his head as high as possible.

34. Following surgery for a brain tumor near the hypothalamus, the nursing assessment should include observing for inability to regulate body temp.

35.Post-myelography (using metrizamide (Omnipaque) care includes keeping head elevated for at least 8 hours.

36. Homonymous hemianopsia is described by a client had CVA and can only see the nasal visual field on one side and the temporal portion on the opposite side.

37. Ticlopidine may be prescribed to prevent thromboembolic CVA.

38. To maintain airway patency during a stroke in evolution, have orotracheal suction available at all times.

39. For a client with CVA, the gag reflex must return before the client is fed.

40. Clear fluids draining from the nose of a client who had a head trauma 3 hours ago may indicate basilar skull fracture.

41. An adverse effect of gingival hyperplasia may occur during Phenytoin (DIlantin) therapy.

42. Urine output increased: best shows that the mannitol is effective in a client with increased ICP.

43. A client with C6 spinal injury would most likely have the symptom of quadriplegia.

44. Falls are the leading cause of injury in elderly people.

45. The client is for EEG this morning. Prepare him for the procedure by rendering hair shampoo, excluding caffeine from his meal and instructing the client to remain still during the procedure.

46. Primary prevention is true prevention. Examples are immunizations, weight control, and smoking cessation.

47. Secondary prevention is early detection. Examples include purified protein derivative (PPD), breast self-examination, testicular self-examination, and chest X-ray.

48. Tertiary prevention is treatment to prevent long-term complications.

49. On noticing religious artifacts and literature on a patient’s night stand, a culturally aware nurse would ask the patient the meaning of the items.

50. A Mexican patient may request the intervention of a curandero, or faith healer, who involves the family in healing the patient.

51. In an infant, the normal hemoglobin value is 12 g/dl.

52. A patient indicates that he’s coming to terms with having a chronic disease when he says something like: “I’m never going to get any better,” or when he exhibits hopelessness.

53. Most of the absorption of water occurs in the large intestine.

54. Most nutrients are absorbed in the small intestine.

55. When assessing a patient’s eating habits, the nurse should ask, “What have you eaten in the last 24 hours?”

56. A vegan diet should include an abundant supply of fiber.

57. A hypotonic enema softens the feces, distends the colon, and stimulates peristalsis.

58. First-morning urine provides the best sample to measure glucose, ketone, pH, and specific gravity values.

59. To induce sleep, the first step is to minimize environmental stimuli.

60. Before moving a patient, the nurse should assess the patient’s physical abilities and ability to understand instructions as well as the amount of strength required to move the patient.

61. To lose 1 lb (0.5 kg) in 1 week, the patient must decrease his weekly intake by 3,500 calories (approximately 500 calories daily). To lose 2 lb (1 kg) in 1 week, the patient must decrease his weekly caloric intake by 7,000 calories (approximately 1,000 calories daily).

62. To avoid shearing force injury, a patient who is completely immobile is lifted on a sheet.

63. To insert a catheter from the nose through the trachea for suction, the nurse should ask the patient to swallow.

64. Vitamin C is needed for collagen production.

65. Bananas, citrus fruits, and potatoes are good sources of potassium.

66. Good sources of magnesium include fish, nuts, and grains.

67. Beef, oysters, shrimp, scallops, spinach, beets, and greens are good sources of iron.

68. The nitrogen balance estimates the difference between the intake and use of protein.

69. A Hindu patient is likely to request a vegetarian diet.

70. No pork or pork products are allowed in a Muslim diet.

71. In accordance with the “hot-cold” system used by some Mexicans, Puerto Ricans, and other Hispanic and Latino groups, most foods, beverages, herbs, and drugs are described as “cold.”

72. Milk is high in sodium and low in iron.

73. Discrimination is preferential treatment of individuals of a particular group. It’s usually discussed in a negative sense.

74. Increased gastric motility interferes with the absorption of oral drugs.

75. When feeding an elderly patient, the nurse should limit high-carbohydrate foods because of the risk of glucose intolerance.

76. When feeding an elderly patient, essential foods should be given first.

78. For the patient who abides by Jewish custom, milk and meat shouldn’t be served at the same meal.

79. Only the patient can describe his pain accurately.

80. Cutaneous stimulation creates the release of endorphins that block the transmission of pain stimuli.

81. Patient-controlled analgesia (PCA) is a safe method to relieve acute pain caused by surgical incision, traumatic injury, labor and delivery, or cancer.

82. An Asian-American or European-American typically places distance between himself and others when communicating.

83. Active euthanasia is actively helping a person to die.

84. Brain death is irreversible cessation of all brain function.

85. Passive euthanasia is stopping the therapy that’s sustaining life.

86. Voluntary euthanasia is actively helping a patient to die at the patient’s request.

87. A back rub is an example of the gate-control theory of pain.

88. Pain threshold, or pain sensation, is the initial point at which a patient feels pain.

89. The difference between acute pain and chronic pain is its duration.

90. Referred pain is pain that’s felt at a site other than its origin.

91. Alleviating pain by performing a back massage is consistent with the gate control theory.

92. Pain seems more intense at night because the patient isn’t distracted by daily activities.

93. Older patients commonly don’t report pain because of fear of treatment, lifestyle changes, or dependency.

94. Utilization review is performed to determine whether the care provided to a patient was appropriate and cost-effective.

95. A value cohort is a group of people who experienced an out-of-the-ordinary event that shaped their values.

96. A third-party payer is an insurance company.

97. Intrathecal injection is administering a drug through the spine.

98. When a patient asks a question or makes a statement that’s emotionally charged, the nurse should respond to the emotion behind the statement or question rather than to what’s being said or asked.

99–105. The steps of the trajectory-nursing model are as follows:

Step 1: Identifying the trajectory phase

Step 2: Identifying the problems and establishing goals

Step 3: Establishing a plan to meet the goals

Step 4: Identifying factors that facilitate or hinder attainment of the goals

Step 5: Implementing interventions

Step 6: Evaluating the effectiveness of the interventions

106–107. Two goals of Healthy People 2010 are:

▪️Help individuals of all ages to increase the quality of life and the number of years of optimal health

▪️Eliminate health disparities among different segments of the population.

108. A community nurse is serving as a patient’s advocate if she tells a malnourished patient to go to a meal program at a local park.

109. If a patient isn’t following his treatment plan, the nurse should first ask why.

110. When a patient is ill, it’s essential for the members of his family to maintain communication about his health needs.

110. Ethnocentrism is the universal belief that one’s way of life is superior to others’.

111. When a nurse is communicating with a patient through an interpreter, the nurse should speak to the patient and the interpreter.

112. Prejudice is a hostile attitude toward individuals of a particular group.

113. The three phases of the therapeutic relationship are orientation, working, and termination.

114. Patients often exhibit resistive and challenging behaviors in the orientation phase of the therapeutic relationship.

115. Abdominal assessment is performed in the following order: inspection, auscultation, palpation, and percussion.

116. When measuring blood pressure in a neonate, the nurse should select a cuff that’s no less than one-half and no more than two-thirds the length of the extremity that’s used.

117. When administering a drug by Z-track, the nurse shouldn’t use the same needle that was used to draw the drug into the syringe because doing so could stain the skin.

118. Sites for intradermal injection include the inner arm, the upper chest, and on the back, under the scapula.

119. When evaluating whether an answer on an examination is correct, the nurse should consider whether the action that’s described promotes autonomy (independence), safety, self-esteem, and a sense of belonging.

120. Veracity is truth and is an essential component of a therapeutic relationship between a health care provider and his patient.

121. Beneficence is the duty to do no harm and the duty to do good. There’s an obligation in patient care to do no harm and an equal obligation to assist the patient.

122. Nonmaleficence is the duty to do no harm.

123–128. Frye’s ABCDE cascade provides a framework for prioritizing care by identifying the most important treatment concerns.

A: Airway. This category includes everything that affects a patent airway, including a foreign object, fluid from an upper respiratory infection, and edema from trauma or an allergic reaction.

B: Breathing. This category includes everything that affects the breathing pattern, including hyperventilation or hypoventilation and abnormal breathing patterns, such as Korsakoff’s, Biot’s, or Cheyne-Stokes respiration.

C: Circulation. This category includes everything that affects the circulation, including fluid and electrolyte disturbances and disease processes that affect cardiac output.

D: Disease processes. If the patient has no problem with the airway, breathing, or circulation, then the nurse should evaluate the disease processes, giving priority to the disease process that poses the greatest immediate risk. For example, if a patient has terminal cancer and hypoglycemia, hypoglycemia is a more immediate concern.

E: Everything else. This category includes such issues as writing any incident report and completing the patient chart. When evaluating needs, this category is never the highest priority.

129. Rule utilitarianism is known as the “greatest good for the greatest number of people” theory.

130. Egalitarian theory emphasizes that equal access to goods and services must be provided to the less fortunate by an affluent society.

131. Before teaching any procedure to a patient, the nurse must assess the patient’s current knowledge and willingness to learn.

132. Process recording is a method of evaluating one’s communication effectiveness.

133. Whether the patient can perform a procedure (psychomotor domain of learning) is a better indicator of the effectiveness of patient teaching than whether the patient can simply state the steps involved in the procedure (cognitive domain of learning).

134. When communicating with a hearing impaired patient, the nurse should face him.

135. When a patient expresses concern about a health-related issue, before addressing the concern, the nurse should assess the patient’s level of knowledge.

136. Passive range of motion maintains joint mobility. Resistive exercises increase muscle mass.

137. Isometric exercises are performed on an extremity that’s in a cast.

138. Anything that’s located below the waist is considered unsterile; a sterile field becomes unsterile when it comes in contact with any unsterile item; a sterile field must be monitored continuously; and a border of 1″ (2.5 cm) around a sterile field is considered unsterile.

139. A “shift to the left” is evident when the number of immature cells (bands) in the blood increases to fight an infection.

140. A “shift to the right” is evident when the number of mature cells in the blood increases, as seen in advanced liver disease and pernicious anemia.

141. Before administering preoperative medication, the nurse should ensure that an informed consent form has been signed and attached to the patient’s record.

142. A nurse should spend no more than 30 minutes per 8-hour shift providing care to a patient who has a radiation implant.

143. A nurse shouldn’t be assigned to care for more than one patient who has a radiation implant.

144. Long-handled forceps and a lead-lined container should be available in the room of a patient who has a radiation implant.

145. Usually, patients who have the same infection and are in strict isolation can share a room.

146. Diseases that require strict isolation include chickenpox, diphtheria, and viral hemorrhagic fevers such as Marburg disease.

147–155. According to Erik Erikson, developmental stages are:

•Trust versus mistrust (birth to 18 months)

•Autonomy versus shame and doubt (18 months to age 3)

•Initiative versus guilt (ages 3 to 5)

•Industry versus inferiority (ages 5 to 12)

•Identity versus identity diffusion (ages 12 to 18)

•Intimacy versus isolation (ages 18 to 25)

•Generativity versus stagnation (ages 25 to 60), and

•Ego integrity versus despair (older than age 60).

156. An appropriate nursing intervention for the spouse of a patient who has a serious incapacitating disease is to help him to mobilize a support system.

157. The most effective way to reduce a fever is to administer an antipyretic, which lowers the temperature set point.

158–163. The Controlled Substances Act designated five categories, or schedules, that classify controlled drugs according to their abuse potential.

▪️Schedule I drugs, such as heroin, have a high abuse potential and have no currently accepted medical use in the United States.

▪️Schedule II drugs, such as morphine, opium, and meperidine (Demerol), have a high abuse potential, but currently have accepted medical uses. Their use may lead to physical or psychological dependence.

▪️Schedule III drugs, such as paregoric and butabarbital (Butisol), have a lower abuse potential than Schedule I or II drugs. Abuse of

▪️Schedule III drugs may lead to moderate or low physical or psychological dependence, or both.

▪️Schedule IV drugs, such as chloral hydrate, have a low abuse potential compared with Schedule III drugs.

▪️Schedule V drugs, such as cough syrups that contain codeine, have the lowest abuse potential of the controlled substances.

164. During lumbar puncture, the nurse must note the initial intracranial pressure and the color of the cerebrospinal fluid.

165. Cold packs are applied for the first 20 to 48 hours after an injury; then heat is applied. During cold application, the pack is applied for 20 minutes and then removed for 10 to 15 minutes to prevent reflex dilation (rebound phenomenon) and frostbite injury.

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fmarkets · 7 months ago

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Prime Medicine Inc. Rakes in Millions in First Quarter Earnings $PRME #Nasdaq

Revolutionizing Healthcare with Prime Medicine's Impressive Revenue GrowthPrime Medicine Inc, a leading biotechnology company focused on gene editing therapies, has recently made significant advancements in the treatment of Chronic Granulomatous Disease (CGD). This rare genetic disorder affects the innate immune system, leaving patients more susceptible to recurrent infections and inflammatory complications. However, with the announcement of the first-ever FDA clearance of an investigational new drug (IND) application for their Prime Editing product, PM359, the

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nathfiset · 7 months ago

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What is chronic granulomatous disease and how can cord blood banking help?

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By clicking on either buttons, you are agreeing to our TOS and disclaimers and will be redirected to an affiliate cord blood banking provider. We might get financial compensation if you sign up with them through our affiliate links. Unlock your special discounts by adding your promo code.CORD300 in the coupon field to get $300 OFF cord blood and tissue banking. OR cord200 to get $200 OFF if you are getting cord blood banking only. I want more information on cord blood banking

Chronic granulomatous disease (CGD) is a rare genetic disorder that affects the immune system, making individuals more susceptible to recurrent infections. It is caused by mutations in the genes responsible for producing a group of enzymes called NADPH oxidase, which are essential for fighting off certain types of bacteria and fungi. As a result, individuals with CGD have weakened immune systems and are at a higher risk of developing severe, life-threatening infections. Although there is currently no cure for CGD, advancements in medical technology have led to treatments that can improve the quality of life for those affected by this condition. One such treatment is cord blood banking, which involves the collection, processing, and storage of stem cells from the umbilical cord blood of a newborn baby. In recent years, cord blood banking has emerged as a promising option for individuals with CGD, as it offers potential benefits in terms of treating and managing this rare disorder. In this article, we will explore the basics of CGD, its symptoms, and how cord blood banking can potentially help individuals with this condition.

Understanding chronic granulomatous disease (CGD)

Chronic granulomatous disease (CGD) is a rare genetic disorder that affects the immune system. It is characterized by defects in certain white blood cells, specifically phagocytes, which are responsible for destroying harmful bacteria and fungi. In individuals with CGD, these phagocytes are unable to produce the reactive oxygen species necessary to effectively eliminate these pathogens. As a result, patients with CGD are more susceptible to recurrent and severe infections, particularly of the lungs, skin, and other organs. It is important to understand that CGD is a chronic condition that requires ongoing management and specialized medical care. While there is currently no cure for CGD, various treatment options, including antibiotics and antifungals, can help control infections and improve quality of life for individuals with the condition. In some cases, cord blood banking, which involves collecting and storing the umbilical cord blood of a newborn baby, may offer potential benefits for CGD patients. Cord blood contains stem cells that can be used in certain medical procedures, such as stem cell transplants, which may provide a therapeutic option for individuals with CGD. However, it is crucial to consult with healthcare professionals to determine the most appropriate course of action for each individual case.

Causes, symptoms, and treatment options

Chronic granulomatous disease (CGD) is primarily caused by genetic mutations that affect the functioning of phagocytes, a type of white blood cell responsible for fighting infections. These mutations disrupt the production of reactive oxygen species, compromising the ability of phagocytes to eliminate bacteria and fungi effectively. As a result, individuals with CGD experience recurrent and severe infections in various parts of the body, including the lungs, skin, and organs. Common symptoms may include persistent cough, skin abscesses, and swollen lymph nodes. While there is no cure for CGD, treatment options focus on managing infections and preventing complications. This often involves a combination of antibiotics, antifungals, and prophylactic medications to suppress the immune system. Additionally, individuals with CGD may benefit from regular monitoring by a specialized healthcare team and adherence to strict hygiene practices to minimize the risk of infections.

The role of cord blood banking

Cord blood banking plays a crucial role in the field of regenerative medicine and offers potential benefits for individuals with certain genetic conditions such as chronic granulomatous disease (CGD). Cord blood, which is collected from the umbilical cord after childbirth, contains a rich source of hematopoietic stem cells that have the capacity to differentiate into different types of blood cells. These stem cells can be used in transplantation procedures to replace or repair damaged cells in individuals with CGD. By utilizing cord blood, which is readily available at birth, individuals with CGD may have access to a source of healthy stem cells that can help restore immune function and potentially reduce the severity and frequency of infections. Additionally, cord blood banking provides an opportunity for future research and medical advancements in the treatment of CGD and other genetic conditions.

How cord blood stem cells work

Cord blood stem cells work by possessing the remarkable ability to self-renew and differentiate into various types of specialized cells found in the blood and immune system. These stem cells, also known as hematopoietic stem cells, have the potential to develop into red blood cells, white blood cells, and platelets. In the context of chronic granulomatous disease (CGD), cord blood stem cells can be transplanted into the patient's body, where they can replace the defective or absent immune cells responsible for the disease. Once transplanted, these stem cells can engraft in the bone marrow and begin producing healthy immune cells, ultimately restoring the immune system's ability to fight off infections. This transplantation process, known as hematopoietic stem cell transplantation, has shown promising results in improving the health outcomes of individuals with CGD. By harnessing the power of cord blood stem cells, researchers and medical professionals are paving the way for innovative therapeutic approaches to treat CGD and potentially other genetic disorders.

Potential benefits for CGD patients

The potential benefits for CGD patients through cord blood banking and hematopoietic stem cell transplantation are significant. Firstly, this approach offers the opportunity for a curative treatment option for individuals with CGD, as it addresses the underlying immune system dysfunction. By replacing the defective immune cells with healthy ones derived from cord blood stem cells, patients have the potential to regain a fully functioning immune system and reduce the frequency and severity of infections associated with CGD. Furthermore, hematopoietic stem cell transplantation has the potential to improve overall quality of life for CGD patients by reducing the need for long-term antibiotic treatments and hospitalizations, ultimately leading to better long-term outcomes and increased survival rates. Although further research and clinical trials are still ongoing, the potential benefits of cord blood banking and hematopoietic stem cell transplantation in CGD patients offer hope for a brighter future in managing this complex and challenging disease.

What to consider when banking cord blood

When considering banking cord blood for the potential treatment of chronic granulomatous disease (CGD), there are several factors to take into account. Firstly, it is important to ensure that you choose a reputable and accredited cord blood bank that follows strict standards and regulations for collection, processing, and storage. This ensures the viability and safety of the cord blood stem cells for potential future use. Secondly, it is essential to discuss the decision with your healthcare provider, who can provide guidance and information specific to your individual situation. They can help assess the likelihood of CGD occurring in your family, as well as discuss alternative treatment options and the potential risks and benefits of cord blood banking. Additionally, it is crucial to consider the associated costs of cord blood banking, including initial collection and processing fees, as well as long-term storage fees. It is advisable to explore different banking options and compare their services and fees before making a decision. Lastly, it is important to be aware that while cord blood banking offers potential benefits for CGD patients, it is not a guaranteed cure and may not be suitable or necessary for every individual. Consulting with medical professionals and conducting thorough research is essential to make an informed decision about cord blood banking for CGD.

Availability and accessibility of cord blood

The availability and accessibility of cord blood for the treatment of various diseases, including chronic granulomatous disease (CGD), is a crucial consideration. Cord blood can be obtained from the umbilical cord and placenta after childbirth, providing a rich source of hematopoietic stem cells. These stem cells have the potential to differentiate into different types of blood cells, thereby offering a valuable resource for transplantation and regenerative medicine. In recent years, there has been a notable increase in the number of public and private cord blood banks, which has improved the availability of cord blood for potential use in treating CGD and other conditions. This has also led to advancements in cord blood processing techniques, ensuring the preservation of its therapeutic properties and increasing the accessibility of these valuable stem cells for patients in need.

Cost comparison with other treatments

When considering treatment options for chronic granulomatous disease (CGD), it is important to take into account the cost comparison with other available treatments. Traditional treatments for CGD, such as lifelong antibiotic therapy and surgical interventions, can incur significant expenses over time. In contrast, cord blood banking offers a one-time cost for the collection and storage of cord blood stem cells, providing a potentially long-lasting and cost-effective treatment option. Additionally, cord blood transplantation has shown promising results in the treatment of CGD, offering the potential for improved outcomes and reduced healthcare costs in the long term. By considering the cost comparison with other treatments, cord blood banking emerges as a viable and financially beneficial choice for individuals seeking comprehensive and sustainable treatment for chronic granulomatous disease.

Success stories of CGD patients

Over the years, there have been numerous success stories of CGD patients who have undergone cord blood transplantation as part of their treatment journey. These individuals have experienced significant improvements in their overall health and quality of life. By harnessing the regenerative potential of cord blood stem cells, patients have reported a reduction in the frequency and severity of infections, decreased need for antibiotic therapy, and a restored immune system functionality. These success stories serve as inspiring examples of how cord blood banking and transplantation can make a profound difference in the lives of CGD patients, offering them renewed hope and the opportunity for a brighter future.

The future of cord blood banking for CGD treatment.

Advancements in medical research and technology continue to shape the future of cord blood banking for CGD treatment. As scientists delve deeper into understanding the intricacies of chronic granulomatous disease and the potential of cord blood stem cells, new possibilities are emerging. One area of exploration is the use of gene therapy to correct the specific genetic mutation that causes CGD. By modifying the patient's own cord blood stem cells, researchers aim to provide a personalized and more effective treatment option. Additionally, ongoing studies are focused on optimizing the transplantation process, improving engraftment rates, and reducing the risk of complications. With ongoing advancements and a growing commitment to research, the future of cord blood banking for CGD treatment holds promise for even better outcomes and enhanced therapeutic options.In conclusion, chronic granulomatous disease is a rare but serious condition that affects the immune system. While there is no cure for this disease, cord blood banking offers a potential solution for patients and their families. By preserving umbilical cord blood, families can have a readily available source of stem cells for potential treatment options in the future. This can provide hope and peace of mind for those affected by chronic granulomatous disease and other diseases that can be treated with cord blood stem cells. Consult with a medical professional to learn more about the benefits of cord blood banking and how it can potentially help those with chronic granulomatous disease.

FAQ

What is chronic granulomatous disease and how does it affect the immune system?Chronic granulomatous disease (CGD) is a rare genetic disorder that affects the immune system's ability to fight off certain bacteria and fungi. In individuals with CGD, a defect in the immune system's cells prevents them from effectively producing reactive oxygen molecules needed to kill pathogens. This leads to the formation of granulomas, which are clusters of immune cells that are unable to eliminate the invading microorganisms. As a result, individuals with CGD are more susceptible to infections and inflammation in various organs and tissues of the body. Treatment typically involves antibiotics and sometimes bone marrow transplantation.How can cord blood banking be used as a potential treatment for chronic granulomatous disease?Cord blood banking can be used as a potential treatment for chronic granulomatous disease by providing a source of hematopoietic stem cells, which can be used to replace defective white blood cells in patients with the condition. These stem cells have the potential to differentiate into healthy immune cells, offering a curative option for individuals with chronic granulomatous disease. By storing cord blood from newborns, individuals at risk for the disease may have access to a suitable donor source for stem cell transplantation in the future.What specific types of stem cells found in cord blood are beneficial for treating chronic granulomatous disease?Cord blood stem cells containing hematopoietic stem cells, specifically mesenchymal stem cells, are beneficial for treating chronic granulomatous disease. Mesenchymal stem cells have shown promising results in aiding the recovery of immune system function and reducing inflammation associated with this disease. Their ability to differentiate into various cell types and modulate immune responses make them a valuable therapeutic option for chronic granulomatous disease patients.Are there any risks or limitations associated with using cord blood for treating chronic granulomatous disease?While cord blood has shown promise in treating chronic granulomatous disease (CGD), there are some limitations and risks. These may include the potential for graft failure, infection, or graft-versus-host disease. Additionally, the availability of suitable matches and the need for further research to optimize treatment outcomes are important considerations. Overall, while cord blood transplantation can be effective for CGD treatment, careful assessment of risks and benefits is necessary for each individual case.How does the process of using cord blood for treating chronic granulomatous disease compare to other treatment options available?Using cord blood for treating chronic granulomatous disease is a promising option due to its potential to provide a source of healthy stem cells for transplantation. This method can offer a curative approach compared to other treatment options like medication or bone marrow transplants, which may not always be successful or come with potential risks. Cord blood transplants also have a lower risk of graft-versus-host disease and may have a higher success rate in treating chronic granulomatous disease due to their immunological naïveté. Overall, using cord blood for treatment can be a safer and more effective alternative for managing this condition. Read the full article

#chronicgranulomatousdiseasecordbloodbanking #cordbloodbankchronicgranulomatousdisease

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enchantingstrangerblizzard · 10 months ago

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https://www.maximizemarketresearch.com/market-report/global-chronic-granulomatous-disease-market/66355/

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toto7788officialsite · 1 month ago

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7 Obat Termahal Sejagat, Ada yang Tembus Rp60 Miliar!

1. Zolgensma (Nusinersena)

2. Luxturna (Voretigene Neparvovec)

3. Actimmune (Interferon gamma-1b)

4. Haffner's Syndrome (Myeloperoxidase deficiency)

5. Soliris (Eculizumab)

6. Kymriah (Tisagenlecleucel)

Terapi ini memberikan harapan baru bagi pasien kanker yang tidak merespons pengobatan lain. Meskipun biayanya tinggi, keberhasilan Kymriah dalam menyelamatkan nyawa pasien membuatnya sangat berharga.

7. Danyelza (Naxitamab)

Faktor Penyebab Tingginya Harga Obat

Beberapa faktor yang menyebabkan tingginya harga obat-obatan ini antara lain:

Regulasi yang Ketat: Persetujuan dari badan regulasi seperti FDA memerlukan standar keamanan dan efektivitas yang tinggi. Hal ini membuat biaya produksi meningkat.

Inovasi Teknologi: Obat yang menggunakan teknologi canggih, seperti terapi gen atau terapi sel, biasanya memiliki biaya produksi yang lebih tinggi, sehingga mempengaruhi harga jual.

Kesimpulan

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