#hyper IgM syndrome | Explore Tumblr posts and blogs

doctorfoxtor · 4 years ago

Text

I've genuinely been saying TIL way, WAY too often lately

100 days of productivity

Day 11

CVS/RS

HOCM: although beta-blockers/non-DHP Ca blockers are first line drugs to prevent or control symptoms, ACEis/ARBs MUST be started in all patients as there is evidence that they arrest the septal hypertrophy (or can even reverse it!) (angiotensin II and aldosterone are said to accelerate the hypertrophy; so are beta-1 agonists but with poorer evidence)

other than antiRAAS drugs and nitrate-hydralazine, ivabradine also has a mortality-reducing effect in CHF, specifically in patients with sustained HR > 70 bpm despite maximum beta blockade

atorvastatin fucks with digoxin, but ONLY atorvastatin fucksn't with warfarin

although verapamil is a contraindication to adenosine due to the risk of precipitating heart block, beta blockers are not

reversed split S2 in LBBB (P2 followed by A2)

Endo/Repro

haemochromatosis: pituitary dysfunction and hypogonadism are *not reversible*; hormone replacement is the mainstay of therapy

isolated FSH deficiency → ↓androgen binding proteins → oligospermia

toxic adenoma: 300-500 megabecquerels of radioiodine is 1st line; surgical excision is *second line* (radioiodine is preferentially taken up by adenomatous tissue bc it takes up iodine at a fast rate, and ↓TSH means the rest of the gland takes up much less iodine)

checkpoint inhibitors in oncology lead to persistent immune activation, but this may lead to loss of self tolerance especially against endocrine organs; this may lead to thyroiditis, adrenalitis, hypophysitis, endocrine pancreatitis etc; it is important to screen for the maintenance of the hormonal axes in patients on such drugs (eg, nivolumab, ipilimumab)

Rheum/Derm

increased BMI (without diabetes) is actually generally *protective* against osteoporosis d/t ↑oestrone (adipose oestrogen)

ANAs are mostly IgG; much less common are IgA and IgM ANAs

osteomyelitis: plain films are for screening, MRI is definitive

tennis-racquet Brisbeck granules on biopsy of a bone lesion → Langerhans cell histiocytosis

presence of pruritus is circumstantial evidence for bullous pemphigoid over pemhigus vulgaris

osteoporosis risk is high with steroid equivalent to prednisolone 7.5 mg/day over 3 months (or more); if it is anticipated that a patient might need such a long dose of steroids, start prophylaxis *immediately* with vitamin D + calcium + alendronate

Renal/Biochem/Toxo

natriuresis/hyponatraemia despite volume loss = suspect RAAS deficiency (eg, primary adrenal insufficiency)! SIADH does NOT explain profound hyponatraemia when volume depletion is evident, as aldosteronergic drive is usually sufficient to keep sodium levels as high as possible

FB GoT All Hyper about Liddle syndrome: Furosemide toxicity mimicks Bartter syndrome, Gitelman syndrome mimicks Thiazide toxicity and HyperAldosteronism mimicks Liddle syndrome

platinum compounds → hypomagnesaemia

GIT

pigment laden macrophages on colon biopsy = melanosis coli → stimulant laxative abuse

CNS/Ophthal/ENT

absent ankle jerk + positive Babinski: 3 major differentials: syrinx, motor neuron disease or subacute combined degeneration (SCD can have either exaggerated, decreased or absent reflexes)

sacral sparing = maintenance of sensation/power in central cord syndrome (eg, intramedullary metastatic tumour and syringes) and incomplete spinal cord injury due to peripheral arrangement of sacral spinothalamic fibres (test with lack of saddle anaesthesia; reduction deep touch sensation is sensitive for severity of cord injury)

orbital apex syndrome → optic neuropathy, 6th nerve palsy, proptosis, chemosis/injection, miosis, ptosis

Kearns-Sayer syndrome: MERT: Mitochondrial inheritance, External ophthalmoplegia, Retinitis pigmentosa, Teenage onset (<20 yrs)

Refsum disease: CANID: Cerebellar ataxia, Anosmia, Neuropathy, Icthyosis, Deafness

when deprescribing benzos, switch to equivalent dose of diazepam and reduce by 1/8ths every 2 weeks (typically 2 mg per 2 weeks); reinstate previous dose if patient withdraws, then after another 2 weeks try to reduce the dose again

#studying #studyblr #medblr #medicine #100 days of productivity #mine #long post #true facts: i am cry

4 notes · View notes

centralbiohubgermany · 3 years ago

Text

Zika Virus- causes, symptoms and prevention

What Exactly is Zika?

Zika virus disease is a mosquito-borne infectious disease highly prevalent in tropical and subtropical countries. It transmits through the bite of Aedes mosquitos (Ae. aegypti and Ae. albopictus). It can also transmit through the exchange of body fluids during sexual intercourse, blood transfusion, organ transplant and from the infected mother to the newborn. Usually, Zika virus infection is mild and self-limiting. However, in serious cases, it can lead to neurological disorders, congenital defects and Guillain-Barre syndrome (GBS).

What are the symptoms of Zika?

In general, the signs and symptoms of a Zika virus infection are mild and self-limiting. Although most patients remain asymptomatic throughout the early disease phase, usually, the patient develops a high-grade fever, fatigue, headaches, musculoskeletal pain, muscle pain, conjunctivitis, and maculopapular rashes in the later stages.

Pregnant women experience severe negative effects due to the teratogenicity of the Zika virus, which can result in congenital CNS abnormalities, including miccrocephaly, fetal death, and adverse pregnancy outcomes.

Prevention of Zika:

Complete avoidance of mosquito bites is the cornerstone to staying away from Zika virus infection. There is currently no authorized prophylactic vaccine for Zika virus infection. The following are effective methods to prevent Zika virus infection:

● Avoid visiting Zika-affected areas.

● Avoid having sexual contact with Zika patients.

● If you have Zika, you should avoid getting pregnant.

● Use insect repellents.

● Wear long-sleeved shirts and pants to avoid mosquito bites.

● To prevent mosquitoes from entering the house, use air conditioning and avoid opening doors and windows.

● Sleep with mosquito nets.

● Avoid standing water, which can be a breeding ground for mosquitoes.

Get Hard-to-find Zika Virus Biospecimens for Research:

Central BioHub brings the ultimate solution for your research biospecimen needs. We are the world's leading human biospecimen marketplace looking forward to the advancement of science and tropical research. To visit our website, click here: https://centralbiohub.de/

We support global researchers by formulating a comprehensive pathway for biospecimen procurement. Accelerating international biomedical research on virology, Central BioHub offers a full range of Zika virus samples ideal for discovering more sophisticated diagnostic tools and therapeutic regimens to tackle present and potential tropical infections. We offer a curated collection of well-defined, hyper-annotated human biospecimens, such as serum and plasma samples collected from patients suspected or diagnosed with Zika virus infection. The samples are tested for Zika virus IgG and IgM and are available with complete clinical information. Order Zika virus disease biospecimens directly from our website: https://centralbiohub.de/biospecimens/tropical-infections/zika-virus

#Zika virus #biomedical #Zika virus IgG and IgM

0 notes

healthcare-market · 3 years ago

Text

Primary Immunodeficiency Market is Booming Worldwide Scrutinized in New Research

Primary Immunodeficiency Market: Introduction

Transparency Market Research has published a new report titled, ‘Global Primary Immunodeficiency Market ’. According to the report, the global primary immunodeficiency market was valued at US$ 5.7 Bn in 2019 and is projected to expand at a CAGR of ~6% from 2020 to 2028. The primary immunodeficiency disorders (PIDs) are clinically heterogeneous disorders, the majority of which arise from genetic defects in immunologically relevant genes. Primary immune deficiencies are present in a heterogeneous manner, and a high index of suspicion is required to diagnose primary immune deficiencies. Any patient with a suspected or proven primary immunodeficiency disorder (PID) should be referred to the care of a clinical immunologist. Immune dysregulation phenotypes of PID are commonplace and include multiorgan autoimmunity, malignancy (particularly hematological), and autoinflammatory pathology such as periodic fever syndromes.

Request a PDF Brochure - https://www.transparencymarketresearch.com/sample/sample.php?flag=B&rep_id=3137

In terms of type, the global primary immunodeficiency market has been segmented into antibody deficiency, cellular deficiency, and innate immune. Antibody deficiency has been categorized into agammaglobulinaemia, common variable immune deficiency, selective IgA deficiency, IgG subclass deficiency, and others. Cellular deficiency has been classified into Ataxia Telangiectasia, hyper IgM syndromes, Wiskott-Aldrich syndrome, DiGeorge syndrome, and others. Innate immune has been split into complement deficiencies, hyper IgE syndrome, and others. The antibody deficiency segment captured the largest market share in 2019. The segment is expected to expand at the highest CAGR during the forecast period, owing to rise in need and demand for diagnosis by patients.

Request a Sample of Primary Immunodeficiency Market: https://www.transparencymarketresearch.com/sample/sample.php?flag=S&rep_id=3137

Based on treatment type, the global primary immunodeficiency market has been divided into immunoglobuline replacement therapy, antibiotic therapy, stem cell and gene therapy, and others (vaccines, nutritional supplements, and others). The immunoglobuline replacement therapy segment captured the largest market share in 2019. The segment is expected to expand at the highest CAGR during the forecast period due to increase in need and demand for diagnosis by patients.

Request for Analysis of COVID19 Impact on Primary Immunodeficiency Market- https://www.transparencymarketresearch.com/sample/sample.php?flag=covid19&rep_id=3137

Primary Immunodeficiency Market: Prominent Regions

North America held a major share of the global primary immunodeficiency market in 2019. Highly structured healthcare industry, presence of key players, and growth strategies of these players are the major factors driving the market in the region. Rise in awareness about benefits of procedures and increase in healthcare expenditure also contribute to the growth of the market in North America. Asia Pacific held the second largest share of the global primary immunodeficiency market in 2019. Growth of the primary immunodeficiency market in the region can be attributed to rise in prevalence of chronic diseases and well-developed health care sector in the region. The market in Asia Pacific is expected to grow at a rapid pace during the forecast period. Increase in the number of people with cardiovascular diseases, product approvals, and rise in awareness about cardiovascular diseases which ultimately lead to regular checkup and diagnosis, are factors anticipated to fuel the growth of the primary immunodeficiency market in the region.

Enquiry before Buying Primary Immunodeficiency Market Report - https://www.transparencymarketresearch.com/sample/sample.php?flag=EB&rep_id=3137

Primary Immunodeficiency Market: Key Players

Key players are expanding their footprint to strengthen their position in the global primary immunodeficiency market. Gradual increase in incidence of primary immunodeficiency diseases globally offers lucrative opportunities to key players to increase their share in the primary immunodeficiency market. Hence, manufacturers are engaging in new product development, collaborations, and distribution to gain market share. Leading players operating in the global primary immunodeficiency market include Shire plc, CSL Behring, Kedrion Biopharma Inc, Grifols, S.A., Octapharma, China Biologic Products Holdings, Inc., Biotest AG, Sanquin, and LFB SA.

More Trending Reports by Transparency Market Research:

https://www.prnewswire.com/news-releases/growing-uptake-in-cancer-diagnostics-and-therapeutics-open-new-frontiers-in-radiopharmaceutical-market-valuation-predicted-to-touch-us-5-4-bn-by-2027--tmr-301268782.html

https://www.prnewswire.com/news-releases/continuous-innovations-in-surgical-robotics-to-expand-outlook-of-minimally-invasive-surgery-market-global-market-valuation-to-exceed-us-23-6-bn-by-2031--notes-tmr-study-301367220.html

https://www.prnewswire.co.uk/news-releases/sizeable-numbers-to-endorse-benefits-and-efficacy-of-umbrella-of-hormone-replacement-therapies-underscores-growth-in-testosterone-replacement-therapy-market-valuation-projected-to-touch-us-2-2-bn-by-2027-says-tmr-819153496.html

About Us Section:

Transparency Market Research is a global market intelligence company, providing global business information reports and services. Our exclusive blend of quantitative forecasting and trends analysis provides forward-looking insight for thousands of decision makers. Our experienced team of Analysts, Researchers, and Consultants, use proprietary data sources and various tools and techniques to gather, and analyse information. Now avail flexible Research Subscriptions, and access Research multi-format through downloadable databooks, infographics, charts, interactive playbook for data visualization and full reports through MarketNgage, the unified market intelligence engine. Sign Up for a 7 day free trial!

Rohit Bhisey Transparency Market Research, 90 State Street, Suite 700, Albany, NY 12207 Tel: +1-518-618-1030 USA – Canada Toll Free: 866-552-3453 Email: [email protected]

Website: https://www.transparencymarketresearch.com/

0 notes

biomedres · 4 years ago

Text

Journals on Biomedical Engineering - BJSTR Journal

Plantibodies: A New Approach for Immunomodulation in Human Health by Anurag Malik in Biomedical Journal of Scientific & Technical Research https://biomedres.us/fulltexts/BJSTR.MS.ID.002061.php Antibodies or immunoglobulins are the vital component of adaptive immune system in mammals. These are mainly present in the body fluid and constitute an assembly of glycoproteins released by B-cells. B-cells constitute the humoral type of adaptive immune system. They are highly specific their mode of action. First they recognize their target specifically, binds to the antigen/toxin of pathogen and produce and elicit the immune response. These features permit immunoglobulins to be employed in diverse range of applications such as diagnosis, prevention and treatment [1]. Production of defective antibody response results in increased vulnerability to pyogenic infections due to impairment in B-cell function, e.g. in hyper-IgM syndrome as a result of improper signaling between B and T cells and in X-linked agammaglobulinemia. To overcome these defects, constant region of a human immunoglobulin is modified by transgenic approach to create recombinant antibody [2]. With this advancement, a new expectation of a reliable, inexpensive cure for diseases like, diabetes and cancer was awakening; but the major drawback was its cost ineffectiveness. Hence, production of cost-effective and scalable platforms that is safe for therapeutics is urgently required [3]. Transgenics is one of the most potential applications in therapeutics for the preparation of various biological substances such as antibodies, proteins and vaccines. They can be produced from plants by transforming antibody-coding genes from humans to plants as ‘transgene’. Plants acts as suitable host for production of antibodies referred as “plantibodies”. Fore more articles on Journals on Biomedical Engineering please click here bjstr Follow on Twitter : https://twitter.com/Biomedres01 Follow on Blogger : https://biomedres01.blogspot.com/ Like Our Pins On : https://www.pinterest.com/biomedres/

#Open access medical journal #Free medical journal #American medical journal #List of Open Access Medical Journal #Journals on Medical Research

0 notes

siva3155 · 6 years ago

Text

300+ TOP DISEASE ASSOCIATED with IMMUNE SYSTEM Objective Questions and Answers

DISEASE ASSOCIATED with IMMUNE SYSTEM Multiple Choice Questions :-

1. The HIV virus infects primarily A. brain cells B. cells in the immune system C. red blood cells D. liver cells Answer: B 2. Chronic granulomatous disease results from a failure to perform oxidative burst. This deficiency would be most likely to interfere with A. CTL killing of viruses B. dendritic cell activation to become a mature APC C. infected cell processing of virus peptides D. macrophage intracellular killing of bacteria Answer: D 3. Difficulties with somatic gene therapy arise from all of the following except A. GVHD caused by mature T cells in the transplanted cells B. inserting a gene so that it will function properly C. limited life span of more mature hematopoietic cells D. transducing genetic material into stem cells Answer: A 4. A monoclonal antibody (mAb) specific for the 2,4-dinitrophenyl (DNP) hapten might also bind A. Leu or Ileu B. His or Pro C. Tyr or Phe D. Ser or Thr Answer: C 5. Retinoblastoma is due to a mutation in a A. kinase B. tumor supressor C. cyclin D. viral gene Answer: B 6. An autoimmune disease is A. AIDS B. Measles C. Lupus D. Mumps Answer: C 7. If Class IIMHC is not expressed in the thymus, the resulting immune deficiencies would include all of the following except reduced A. alternative complement activation. B. CD8 T cell-mediated cytotoxicity C. macrophage activation to vesicular pathogens D. IgG synthesis Answer: A 8. Specific translocations are associated with A. colon cancer B. breast cancer C. pancreatic cancer D. some leukemias Answer: D 10. The primary reason for AIDS, a deadly disease is that it A. is caused by a virus B. is caused by a bacterium C. destroys key components of the body's internal defense system D. causes a breakdown of the body's inflammatory response Answer: C

DISEASE ASSOCIATED with IMMUNE SYSTEM MCQs DISEASE ASSOCIATED with IMMUNE SYSTEM Objective type Questions with Answers 11. A selective IgA deficiency would be expected to result in problems with A. bacterial infections B. infections following dental work due to bacteria entering the bloodstream C. mucosal pathogens D. pathogens which can survive inside macrophages Answer: C 12. Combined cellular and humoral immune deficiencies result from lack of all of the following except A. a thymus B. class II MHC C. HIV infection of CD4+ T cells D. transporter of antigen peptides (TAP) Answer: D 13. An example of an immunodeficiency disorder is A. thyroiditis B. rheumatic fever C. systemic lupus erythematosus D. AIDS Answer: D 14. Bone marrow given to an infant with SCID must A. be irradiated to eliminate GVHD B. contain mature T cells that can begin making immune responses immediately C. come from a donor that shares some MHC alleles with the recipient D. come from one of the child's parents Answer: C 15. X-linked hyper IgM syndrome, resulting in high levels of serum IgM and low levels of serum IgG, is caused by a defect in CD40L expression. The specific immune event that would be prevented by a defective CD40L would be A. activation of B cells by T-independent antigens B. failure of B cells to provide co-stimulation for Th2 activation C. failure of Th2 cells to provide co-stimulation for B cell isotype switching D. failure of Th2 cells to provide co-stimulation for B cell proliferation Answer: C 16. DiGeorge's syndrome is characterized by the lack of a thymus The mouse model closest to this human disease would be a A. knock-out mouse for RAG-1 and RAG-2 B. knock-out mouse for a thymus C. nude mouse D. recombinant mouse for CD3 Answer: C 17. Which of the Rous sarcoma virus has a homologous cellular protein? A. c-src B. v-src C. v-ha-src D. v-ha-ras Answer: A 18. Infants are most susceptible to bacterial infection due to low circulating levels of IgG A. in utero (before birth) B. at 0-3 months of age C. at 3-12 months of age D. at 12-24 months of age Answer: C 19. The chemical, typically released by the body in an allergic response is A. histamine B. allergens C. antihistamines D. perforins Answer: A DISEASE ASSOCIATED with IMMUNE SYSTEM Questions and Answers pdf Download Read the full article

0 notes

juniperpublishers-oajnn-blog · 6 years ago

Text

Embolic Stroke and Nephrotic Syndrome: A Case Report and Literature Review

Authored by X Michelle Androulakis

Abstract

Nephrotic syndrome (NS) is less commonly associated with arterial thrombosis than venous thrombosis. We report a case of a 43-year- oldwomanwho presented with an acute embolic stroke confirmed on MRI, about 3 months after the diagnosis of NS. The standard stroke evaluations did not show evidence ofcardiac source of embolism, large vessel atherosclerosis or any primary hypercoagulable disorders. Laboratory tests revealed impaired renal function and extremely high nephrotic range proteinuria and a renal biopsy showed primary membranous glomerulonephropathy. Subsequently, she was discharged on anticoagulation and responded well to the treatment. This case illustrates the importance of considering hypercoagulable evaluation due to nephrotic syndrome as a potential cause of embolic stroke, and the initiation of anticoagulation therapy in a timely manner. We also present a literature review on the association between nephrotic syndrome and acute stroke.

Keywords: Stroke; Nephrotic syndrome; Hypercoagulable state; Arterial thrombosis

Go to

Introduction

It has been shown that patients with nephrotic syndrome (NS) are prone to thrombo-embolic phenomena [1, 2]. The risk of thrombo embolism is increased during the first 6 months of the onset of NS3. In adults with NS, arterial thrombo embolic events are not as well characterized and less commonly reported than venous thrombo embolism [4]. Acute ischemic stroke is a rare complication of NS [5,6,7] and this link has not been widely reported in the literature.

Although the exact pathogenesis of cerebral infarction is not clearly understood, it has been postulated that a hyper coagulable state in NS may play an important role in ischemic stroke [3,8]. Few studies have suggested that hyper coagulability in NS is associated with the steroid and diuretic administration [9]. Although there are case reports of NS and stroke [7,10-16], we report this case to illustrate the importance of considering hypercoagulability from NS as a potential cause of embolic stroke, and to initiate anticoagulation treatment if appropriate. Additionally, we performed an extensive literature search for NS and association with ischemic stroke.

Go to

Case Report

A 43-year-old, left-handed, woman presented with sudden onset of left sided weakness and word finding difficulty three months after the diagnosis of NS. Her other pertinent medical history included COPD, hypertension and was a smoker, with no significant family history for coagulation disorders. NS with membranous glomerulonephropathy was confirmed with biopsy during this admission. Medication history at the time of presentation included cyclophosphamide, prednisone, spironolactone, Lasix, Lisinopril and metoprolol. Her vitals were stable at presentation and general physical examination was benign. Her neurologic examwas significant for mild anomia and left sided weakness. Her laboratory tests showed significant proteinuria, mild hyperlipidemia and the standard hypercoagulable workup was normal. Other laboratory values are as detailed in Table 1.

Further work up included an MRI which revealed bi hemispheric regions of diffusion restriction, consistent with acute infarcts (Figure 1). Her cardiac work up was essentially normal. Vascular imaging of the brain was obtained with a CT angiogram which showed a left MCA occlusion at the M3- M4 segments, without evidence of any proximal large artery atherosclerosis. Given the bihemispheric infarcts, an underlying embolic source was likely. After an exhaustive cardiac work up did not reveal any source of cardio embolism, the possibility of hypercoagulability with significant proteinuria due to NS was considered the likely etiology, and anticoagulation was initiated.

Go to

Literature Review

Systematic searches of peer-reviewed, published, research papers indexed in PubMed, EMBASE, and Science Direct from inception until Nov. 2016 were undertaken using key search terms related to ‘Nephrotic Syndrome', ‘ischemic stroke', and ‘infarction'. We identified 30 reported cases of acute ischemic strokes with NS after eliminating 10 cases with nephropathy related to DM. The age at the presentation ranged from 14 -73 years with a mean age of 40.7, and standard deviation 15.7 years. 70% of the cases (21/30) were male. Among 30 there were only 5 cases without a biopsy-proven diagnosis of NS, most of the cases (8/30) were membranous disease. The other cases were associated with Memberano proliferative Glomerulo nephritis, minimal change disease, IgA nephropathy, IgM nephropathy, Focal Segmental Glomerulo sclerosis and nodular glomerulopathy (Table 2). These infarcts have been described in various vascular distributions.

Go to

Discussion

In this case of acute embolic stroke in the setting of NS (primary membranous glomerulopathy) with a normal coagulation profile, the initial differential diagnoses for the etiology of the embolic infarcts werecardioembolism, atherombolism and a primary hypercoagulable state. The work up for these, as outlined in the case were negative. Our standard hypercoagulable panel was normal in this case, butthis maybe confounded by the concomitant use of steroids. Other clotting factors that are not included in the standard hypercoagulable panel may be affected due to large amounts of urinary protein loss [17]. Marsh et al reported a similar case of stroke in NS with normal coagulation profile except for activated free protein S level [5]. As Fibrinogen is an acute phase reactant and has been associated with elevations in acute stroke with uncertain prognostic value, the fibrinogen level was not checked in our case. [18,19] Increased fibrinogen levels after vascular event is associated with recurrence of stroke and MI [20]. As the likelihood of hypercoagulability secondary to NS was high on the differential, she was discharged on anticoagulation and high intensity statin. She has remained stable since then, with no further vascular events.

Thrombosis is a major complication of NS. Although both arterial and venous thromboses occur, arterial thrombosis is rare and has been described in the femoral arteries commonly [7], but not in cerebral vasculature. Venous thrombosis is more common in the adult patient population while arterial thrombosis is more common in the pediatric patient population [4]. Primary hypercoagulable states like congenital or hereditary deficiencies of protein C, protein S and antithrombin-IIIare relatively rare inherited conditions that lead to endothelial dysfunction [21].

Secondary hypercoagulable states can be associated with underlying conditions such as pregnancy, malignancy, NS or oral contraceptive use [21]. Hypercoagulable states result from the imbalance between the pro-coagulant and anticoagulant factors. The primary glomerular defect in NS results in leakage of high amount of high molecular weight protein, which consist many hemostatic regulatory proteins [22,23]. The overall hypoproteinemia is compensated by increased hepatic synthesis of high molecular weight clotting factors V, VII, VIII and X [24,25]. Increased urinary excretion of natural anticoagulant protein S, anti-thrombin III [26,27] has been reported.

Taken together, the net hemostatic balance is shifted towards a pro-coagulable state. As steroids may increase the concentration of anti-thrombin III and factor VIII [10], the levels of these clotting factors can be normal in NS patients taking steroids. Furthermore, diuretics can also lead to hypercoagulability due to hypovolemia and hemoconcentration. NS is also associated with thrombocytosis and platelet hyperaggregability [25]. In addition, immunologically mediated glomerular damage triggers extrinsic coagulation pathway and thus hypercoagulability [28]. Our review of current literature suggests that most of the acute stroke cases in NS are amongst young, predominantly male patients, and have relatively fewer other vascular risk factors. Hypercoagulable panels were not consistently abnormal, which is indicative of the limitations of current standard laboratory testing for this type of patients.

Go to

Conclusion

In patients with cryptogenic ischemic stroke with concomitant nephrotic syndrome, anticoagulation for the secondary prevention of stroke and other thrombo-embolic events should be considered. Future prospective or randomized trials are needed to evaluate the link between NS and acute stroke as well as efficacy of anticoagulation therapy.

For more open access journals in juniper publishers please click https://juniperpublishers.com/

For more articles on Open Access Journal of Neurology & Neurosurgery Please click on https://juniperpublishers.com/oajnn/

Open Access Journal of Neurology & Neurosurgery in Full text in Juniper Publishers

https://juniperpublishers.com/oajnn/OAJNN.MS.ID.555591.php

#Juniper Publishers #Juniper Publisher Reviews #Juniper Video Articles #Juniper Publishers group

0 notes

raymondmccullers · 6 years ago

Text

Synthetic cells capture and reveal hidden messages of the immune system

New research is highly relevant to how antibodies are made in response to infections, vaccines and in autoimmunity due to the its analysis of a signal that is associated with hyper IgM syndrome, a genetic deficiency of CD40 ligand (CD40L) that results in profound immunodeficiency. Synthetic cells capture and reveal hidden messages of the immune system syndicated from https://triviaqaweb.blogspot.com/

0 notes

ihealthcareanalyst · 9 years ago

Text

Worldwide Primary Immunodeficiency Statistics: Patients, Trends, Market

Primary immunodeficiencies (PI) are defects of the immune system that cause severe, sometimes life threatening, infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. There are at least 300 genetically defined single-gene inborn errors of immunity. Recent studies have shown that PI may be more common than previously estimated and that as many as 1–2% of the population may be affected with a PI when all types and varieties are considered. Over the last decade, improvements in molecular diagnosis, genetic sequencing, and cutting edge research and treatments have led to a better understanding of the immune system, as well as improved quality of life for those living with PI. However, awareness of PI among physicians and the general public remains challenging, and there continues to be a need for improved and timely management of these conditions.

The global primary immunodeficiency diseases market by disease type (Antibody deficiency – Agammaglobulinaemia, Common variable immune deficiency, IgG subclass deficiency, SIgAD; Cellular immunodeficiency – Ataxia Telangiectasia, DiGeorge syndrome, Hyper IgM syndromes, Wiskott-Aldrich syndrome; innate immune disorders – Complement deficiencies, and Hyper IgE syndrome), test type (blood and prenatal testing), treatment modality (immunoglobulin replacement therapy, antibiotics therapy, stem cell and gene therapy, etc.), and by geography (regional and country based) into North America (U.S., Canada), Latin America (Brazil, Mexico, Rest of LA), Europe (U.K., Germany, France, Italy, Spain, Rest of EU), Asia Pacific (Japan, China, India, Rest of APAC), and Rest of the World. The global primary immunodeficiency diseases market report also provides the detailed market landscape, market drivers, restraints, opportunities), market attractiveness analysis and profiles of major competitors in the global market (Baxter International, Inc., Bio Products Laboratory, Biotest AG, CSL Behring LLC, Grifols S.A., Kedrion S.p.A., LFB S.A., and Octapharma AG.) including company overview, financial snapshot, key products, technologies and services offered, and recent developments.

Global Patient Surveillance 2015

In 2015, the distribution of patients diagnosed with PI based on the categories defined by the IUIS Expert Committee for the Classification of PI, predominantly Antibody Deficiencies are reported by physicians to be 63.4% in the US, 47.7% internationally, and 53% globally. Well-defined Syndromes with Immunodeficiency was 16. % in the US, 11.2% internationally, and 12.9% globally. As a percentage of all patients identified with a specific defect, Antibody Deficiencies account for 57 % of all patients identified with a specific defect.

Based on the 15 most prevalent PI defects and percentage of each defect by region, Selective IgA deficiency is the most prevalent with 16.4% in the US, 13.0% internationally, and 14.1% globally. Common variable immunodeficiency (CVID) showed a prevalence of 15.4% in the US, 11.2% internationally, and 12.6% globally. It is noteworthy that Canada and Australia had 25.5 and 39.5% prevalence for CVID, respectively. The Middle East reported 30.5% Familial Mediterranean fever compared to 3.3% globally. Africa reports 6.5% Ataxia telangiectasia (A-T) compared to 2.6% globally, and 8.7% other combined immunodeficiencies compared to 1.5% globally.

With respect to gender and age, male patients accounted for 58.3% globally, while female patients accounted for 41.7%. In the US, 55.7% of the patients were male and 44.3% of patients were female. Globally, 63 % of the patients were 19 years of age or younger, while 37% were 20 years of age or older.

Treatment Modalities 2015

There was a 19% overall increase in patients receiving IgG. There was an increase of 7% in all patients receiving intravenous immunoglobulin therapy (IVIG) and a 100% increase in patients receiving subcutaneous immunoglobulin (SCIG). Of all patients diagnosed with a PI defect, 24.3% are on immunoglobulin replacement therapy. As to all patients with an Antibody Deficiency, 42.9% are treated with IVIG/SCIG. It is noteworthy that there was a 27% increase in the number of patients receiving IVIG in the hospital or clinic. There was a decrease of 49% in the number of patients receiving IVIG at home. This decrease was more than offset by an increase of nearly 100% in patients receiving SCIG. Latin America reported 87% of their patients receiving IgG are treated in the clinic or hospital compared to 55 % globally. In the US, 30% of patients receiving IgG are treated at home compared to 14% globally. Western Europe reported 46% of their patients requiring IgG receive SCIG compared to 28 % globally.

There were commensurate increases in patients receiving other treatments for PI as well. The number of patients treated with PEG-ADA increased by 44%. There was a 22% overall increase in patients treated by HSCT or thymus transplantation, with the number of patients receiving matched donor transplants, matched unrelated donor transplants, mismatched unrelated donor transplants, and parental haplo transplants increasing by 28.6, 17.6, 5.5, and 15.6%, respectively. Use of bone marrow as the source of stem cells increased by 17.4%, while cord blood as the stem cell source increased by 66%. While there was a 22% increase in the number of patients having received HSCT, specific stem cell sources varied significantly by region and source. Latin America reported 74% of the transplants were bone marrow, as opposed to 61% globally. Middle East reported 35% of the transplants were peripheral stem cells as opposed to 22% globally. There was a 65% overall increase in cord blood transplants in the past 2 years. Asia reported 42% of the transplants were cord blood, compared to 16% globally.

Salient Features of the report (Primary Immunodeficiency Diseases Market):

1. Botttom-up research methodology (assumptions) for market size estimation and forecast 2. Global Number of patient population for PID (subtypes) by country, 2013 & 2015 3. Global Number of patient population for treatment or therapy by country, 2013 & 2015 4. Global Number of PID Patients, by 15 Most Commonly Identified PID, 2013 & 2015 5. PID Patient’s Gender and Age – Global Comparative Analysis, 2013 & 2015

- https://www.ihealthcareanalyst.com/worldwide-primary-immunodeficiency-statistics-patients-trends-market/

0 notes

ruggerorespigo · 6 years ago

Text

Synthetic cells capture and reveal hidden messages of the immune system

New research is highly relevant to how antibodies are made in response to infections, vaccines and in autoimmunity due to the its analysis of a signal that is associated with hyper IgM syndrome, a genetic deficiency of CD40 ligand (CD40L) that results in profound immunodeficiency. Latest Science News -- ScienceDaily https://www.sciencedaily.com/releases/2019/09/190917075826.htm

#IFTTT #Latest Science News -- ScienceDaily #ruggero respigo

0 notes

healthcare-market · 4 years ago

Text

Primary Immunodeficiency Market Estimated to Record Highest CAGR by 2028

Primary Immunodeficiency Market: Introduction

Request a PDF Brochure - https://www.transparencymarketresearch.com/sample/sample.php?flag=B&rep_id=3137

Request a Sample of Primary Immunodeficiency Market: https://www.transparencymarketresearch.com/sample/sample.php?flag=S&rep_id=3137

Request for TOC- https://www.transparencymarketresearch.com/sample/sample.php?flag=T&rep_id=3137

Primary Immunodeficiency Market: Prominent Regions

Buy now Primary Immunodeficiency Market Report - https://www.transparencymarketresearch.com/checkout.php?rep_id=3137&ltype=S

Primary Immunodeficiency Market: Key Players

More Trending Reports by Transparency Market Research:

About Us

Transparency Market Research is a next-generation market intelligence provider, offering fact-based solutions to business leaders, consultants, and strategy professionals.

Our reports are single-point solutions for businesses to grow, evolve, and mature. Our real-time data collection methods along with ability to track more than one million high growth niche products are aligned with your aims. The detailed and proprietary statistical models used by our analysts offer insights for making right decision in the shortest span of time. For organizations that require specific but comprehensive information we offer customized solutions through adhoc reports. These requests are delivered with the perfect combination of right sense of fact-oriented problem-solving methodologies and leveraging existing data repositories.

TMR believes that unison of solutions for clients-specific problems with right methodology of research is the key to help enterprises reach right decision.

Transparency Market Research State Tower, 90 State Street, Suite 700, Albany NY - 12207 United States USA - Canada Toll Free: 866-552-3453 Website: https://www.transparencymarketresearch.com

0 notes

coollanceassignments-blog · 6 years ago

Text

Medical Microbiology 7th Edition Test Bank

Follow Below Link to Download File

https://homeworklance.com/downloads/medical-microbiology-7th-edition-test-bank/

We also Do 100% Original and Plagiarism Free Assignment / Homework and Essay

Email us for original and Plagiarism Free Work At ( [email protected] ) or order us at (https://homeworklance.com/custom-order/ )

View Sample Chapter Below:

Murray: Medical Microbiology, 7th Edition

Chapter 10: Immune Responses to Infectious Agents

Test Bank

MULTIPLE CHOICE

1. What is the first antibody produced when an invading microorganism is initially encountered?

IgA

IgD

IgE

IgG

IgM

ANS: E

2. A 5-day-old baby is brought back to the hospital with signs of sepsis, is not thriving, and has vesicular lesions on his scalp at the site of monitor attachment. Why is a baby susceptible to a more serious outcome with this infection than an older child or adult?

Immunosuppression from the mother

Infection of a site closest to the brain

Lack of IgA production

Low levels of interferon-γ production

More rapidly growing cells

ANS: D

3. Endotoxin initiates septic responses by binding to:

NF-κB

Complement receptor 3d

Toll-like receptor 4

C-reactive protein

ICAM 1

ANS: C

4. Endotoxin induces production of which cytokines by macrophages?

IL-1, TNF-α, IL-6

IL-2, IL-4, IL-6

IL-4, IL-5, IL-10

IL-2, IFN-γ, TNF-β

TGF-β, IL-10, IL-17

ANS: A

5. Which of the following cytokines is required to initiate a protective helper T cell immune response to measles virus?

IL-1

IL-4

IL-8

IL-10

IL-12

ANS: E

6. Treatment with which cytokine makes the macrophage more efficient at killing bacteria?

Interferon alpha

Interferon gamma

TGF-β

GM-CSF

IL-2

ANS: B

7. M. tuberculosis becomes reactivated in an AIDS patient because:

CD8 T cells cannot kill the bacteria.

Neutrophils do not become activated.

Macrophages do not get an activation signal.

B cells stop making protective antibody.

CD4 T cells stop making TGF-β.

ANS: C

8. Identify which deficiency would most compromise a protective immune response to E. coli sepsis.

IgG

IgE

CD8 T cells

Mast cells

ANS: A

9. Identify which deficiency would most compromise a protective immune response to herpes simplex virus.

IgG

IgE

CD8 T cells

Neutrophils

ANS: C

10. Identify which deficiency would most compromise a protective immune response to poliovirus.

IgG

IgE

CD8 T cells

Neutrophils

ANS: A

11. Identify which deficiency would most compromise a protective immune response to S. aureus skin infection.

IgA

IgE

CD8 T cells

Neutrophils

ANS: D

12. Identify which deficiency would most compromise a protective immune response to helminths.

IgG

IgE

CD8 T cells

Neutrophils

ANS: B

13. A person with chronic granulomatous disease and related defects in the NADPH Oxidase enzyme complex would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: A

14. A person with complement C7 deficiency would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: D

15. A person with hyper-IgM syndrome would be susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: E

16. A person with IgA deficiency would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Strongyloides stercoralis

All of the above

ANS: C

17. A person with asplenia would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: D

18. Match the hypersensitivity reaction with the response to poison ivy.

Type I

Type II

Type III

Type IV

ANS: D

19. Match the hypersensitivity reaction with the anaphylactic response to penicillin.

Type I

Type II

Type III

Type IV

ANS: A

20. Match the hypersensitivity reaction with the immune complex–induced complement activation in the kidney during hepatitis B infection.

Type I

Type II

Type III

Type IV

ANS: C

#Medical Microbiology 7th Edition Test Bank

0 notes

elizabethsimon1-blog · 6 years ago

Text

Medical Microbiology 7th Edition Test Bank

Follow Below Link to Download File

https://homeworklance.com/downloads/medical-microbiology-7th-edition-test-bank/

We also Do 100% Original and Plagiarism Free Assignment / Homework and Essay

Email us for original and Plagiarism Free Work At ( [email protected] ) or order us at (https://homeworklance.com/custom-order/ )

View Sample Chapter Below:

Murray: Medical Microbiology, 7th Edition

Chapter 10: Immune Responses to Infectious Agents

Test Bank

MULTIPLE CHOICE

1. What is the first antibody produced when an invading microorganism is initially encountered?

IgA

IgD

IgE

IgG

IgM

ANS: E

Immunosuppression from the mother

Infection of a site closest to the brain

Lack of IgA production

Low levels of interferon-γ production

More rapidly growing cells

ANS: D

3. Endotoxin initiates septic responses by binding to:

NF-κB

Complement receptor 3d

Toll-like receptor 4

C-reactive protein

ICAM 1

ANS: C

4. Endotoxin induces production of which cytokines by macrophages?

IL-1, TNF-α, IL-6

IL-2, IL-4, IL-6

IL-4, IL-5, IL-10

IL-2, IFN-γ, TNF-β

TGF-β, IL-10, IL-17

ANS: A

5. Which of the following cytokines is required to initiate a protective helper T cell immune response to measles virus?

IL-1

IL-4

IL-8

IL-10

IL-12

ANS: E

6. Treatment with which cytokine makes the macrophage more efficient at killing bacteria?

Interferon alpha

Interferon gamma

TGF-β

GM-CSF

IL-2

ANS: B

7. M. tuberculosis becomes reactivated in an AIDS patient because:

CD8 T cells cannot kill the bacteria.

Neutrophils do not become activated.

Macrophages do not get an activation signal.

B cells stop making protective antibody.

CD4 T cells stop making TGF-β.

ANS: C

8. Identify which deficiency would most compromise a protective immune response to E. coli sepsis.

IgG

IgE

CD8 T cells

Mast cells

ANS: A

9. Identify which deficiency would most compromise a protective immune response to herpes simplex virus.

IgG

IgE

CD8 T cells

Neutrophils

ANS: C

10. Identify which deficiency would most compromise a protective immune response to poliovirus.

IgG

IgE

CD8 T cells

Neutrophils

ANS: A

11. Identify which deficiency would most compromise a protective immune response to S. aureus skin infection.

IgA

IgE

CD8 T cells

Neutrophils

ANS: D

12. Identify which deficiency would most compromise a protective immune response to helminths.

IgG

IgE

CD8 T cells

Neutrophils

ANS: B

13. A person with chronic granulomatous disease and related defects in the NADPH Oxidase enzyme complex would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: A

14. A person with complement C7 deficiency would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: D

15. A person with hyper-IgM syndrome would be susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: E

16. A person with IgA deficiency would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Strongyloides stercoralis

All of the above

ANS: C

17. A person with asplenia would be most susceptible to serious outcomes from:

S. aureus

Herpes simplex virus

Parainfluenza

Neisseria meningitides

All of the above

ANS: D

18. Match the hypersensitivity reaction with the response to poison ivy.

Type I

Type II

Type III

Type IV

ANS: D

19. Match the hypersensitivity reaction with the anaphylactic response to penicillin.

Type I

Type II

Type III

Type IV

ANS: A

20. Match the hypersensitivity reaction with the immune complex–induced complement activation in the kidney during hepatitis B infection.

Type I

Type II

Type III

Type IV

ANS: C

#Medical Microbiology 7th Edition Test Bank

0 notes

azveille · 6 years ago

Text

Syndrome hyper-IgM : la greffe de cellules souches hématopoïétiques plus efficace avant 5 ans

La greffe de cellules souches hématopoïétiques semble pouvoir guérir des patients atteints d'un syndrome hyper-IgM par déficit en ligand de CD40, notamment si elle est réalisée avant l'âge de 5 ans et en l'absence de dysfonctionnement hépatique, selon des données internationales.

Le syndrome hyper-IgM dit lié à l'X ou par déficit en ligand de CD40 est un déficit immunitaire primitif qui entraîne notamment des infections récurrentes des sinus et des poumons par Pneumocystis et Cryptosporidium, rappellent le Dr Francesca Ferrua du Great North Children's Hospital à Newcastle et de l'Institut scientifique San Raffaele à Milan et ses collègues dans le Journal of Allergy and Clinical Immunology (JACI).

La survie à long terme avec un traitement conservateur était faible. Avec la greffe de cellules souches hématopoïétiques, il est possible de guérir des patients mais des complications peuvent survenir. Dans cette étude, les chercheurs ont voulu déterminer les modalités optimales du traitement par greffe de cellules souches hématopoïétiques et les facteurs de risque individuels des patients.

Pour cela, ils ont analysé de manière rétrospective les données de 130 patients ayant reçu ce traitement entre 1993 et 2015, provenant de deux registres européens (SCEIDE et EBMT) et d'un consortium de centres américains (PIDTC).

La majorité des interventions ont été réalisées après 2000. L'âge médian à la première greffe était de 4 ans (entre 0,5 et 38,3 ans), avec un délai médian de 2 ans après le diagnostic.

Globalement, il apparaît que cinq ans après la première greffe, le taux de survie globale était de 78,2%, le taux de survie sans événement (échec de la greffe et recours à une autre greffe, injection de lymphocytes, supplémentation en immunoglobuline, décès) de 58,1% et le taux de survie sans maladie de 72,3%.

Concernant la survie globale à cinq ans, elle apparaît meilleure après 2000, probablement en lien avec une amélioration des procédures de greffe et de la prise en charge des patients (82,2% vs 58,3%).

Elle est également meilleure lorsque les patients sont traités par greffe avant l'âge de 5 ans, atteignant 90%, contre 37,8% pour ceux greffés après l'âge de 10 ans. Pour ces derniers, une légère amélioration est observée après 2000, avec un taux de survie globale à 43,8%.

L'âge au diagnostic ne semble pas avoir d'effet sur la survie globale à cinq ans mais celle-ci est meilleure lorsque le délai avant l'intervention diminue.

Mauvais pronostic avec la cholangite sclérosante

Les atteintes d'organe préalables sont associées à un mauvais pronostic, en particulier les dysfonctionnements hépatiques et/ou pulmonaires chroniques, avec une survie à cinq ans de 55,6% contre 92,9% en l'absence de dysfonctionnement d'organe. La cholangite sclérosante était le facteur de risque le plus important.

Le recours à un conditionnement myélo-ablatif était associé à une meilleure survie globale par rapport au conditionnement d'intensité réduite.

Un effet significatif de l'appariement entre donneur et receveur apparaît sur la survie sans événement, avec de meilleurs résultats notamment lorsqu'ils proviennent de la même fratrie et/ou lorsqu'ils sont appariés.

La survie sans événement à cinq ans atteint 81,6% en particulier après conditionnement myélo-ablatif et greffe réalisée après 2000.

Le taux de décès dans cette cohorte était de 20%, en majorité en lien avec l'intervention. L'analyse des données indique aussi que la mortalité après greffe de cellules souches hématopoïétiques intervient dans plus des trois quarts des cas dans les six mois, principalement à cause d'une infection.

Deux patients sont décédés d'une insuffisance hépatique; ils avaient une cholangite sclérosante pré-existante. Trois autres sont décédés d'un rejet de greffe. Par ailleurs, 4 patients sont décédés de la progression de leur maladie.

Ces données sont issues de la plus grande série de patients avec un syndrome hyper-IgM par déficit en ligand de CD40. Elles montrent globalement que les progrès dans le diagnostic, la prise en charge clinique et les modalités de la greffe de cellules souches hématopoïétiques ont contribué à améliorer l'impact de ce traitement, concluent les chercheurs.

Les chances de guérir les patients atteints d'un syndrome hyper-IgM par déficit en ligand de CD40 avec une greffe de cellules souches hématopoïétiques augmentent si elle est réalisée avant la survenue d'un dysfonctionnement d'organe, avant l'âge de 10 ans, avec notamment un conditionnement myélo-ablatif, ajoutent-ils.

0 notes

khamgiodau · 7 years ago

Text

TIẾP CẬN BỆNH LÝ SUY GIẢM MIỄN DỊCH TIÊN PHÁT Ở TRẺ EM Ở TRẺ EM

PHÁC ĐỒ ĐIỀU TRỊ TIẾP CẬN BỆNH LÝ SUY GIẢM MIỄN DỊCH TIÊN PHÁT Ở TRẺ EM Ở TRẺ EM

I. ĐỊNH NGHĨA

Bệnh lý suy giảm miễn dịch tiên phát (SGMD tiên phát) là bệnh lý di truyền gây rối loạn phát triển h�� thống miễn dịch của cơ thể, làm giảm chức năng hoạt động của các miễn dịch tế bào và miễn dịch dịch thể.

Bệnh có thể xuất hiện ở bất cứ lứa tuổi nào, tuy nhiên trẻ dưới 2 tuổi có tỉ lệ cao.

II. CHẨN ĐOÁN

1. Công việc chẩn đoán

a. Hỏi: tìm các dấu hiệu cảnh báo của bệnh.

• Dấu hiệu mệt mỏi, lừ đừ, bỏ ăn, chậm lên cân hay sụt ký, ho thường xuyên, tiêu chảy kéo dài, sốt kéo dài, nấm miệng.

• Tiền sử cá nhân:

- Tiền sử sơ sinh có chậm rụng rốn trên 30 ngày.

- Tiền sử biến chứng sau tiêm chủng các vaccin sống.

- Tiền sử tiêu chảy kéo dài.

- Vết thương không làm sẹo.

- Tiền sử nhiễm trùng nặng, kéo dài hoặc tái phát nhiều lần, cụ thể sau 10 dấu hiệu theo Feffrey Modell Foundation (FMF):

1. Bị nhiễm trùng ở tai từ bốn lần hoặc nhiều lần hơn trong vòng 1 năm.

2. Bị viêm xoang nặng từ hai lần hoặc nhiều lần hơn trong vòng một năm.

3. Có hai tháng hoặc nhiều tháng hơn dùng kháng sinh mà hiệu quả kém.

4. Bị viêm phổi hai lần hoặc nhiều lần hơn trong vòng một năm.

5. Không lên cân và tăng trưởng theo bình thường.

6. Bị áp xe cơ quan hoặc mô dưới da tái phát nhiều lần.

7. Nấm miệng hoặc nấm da kéo dài.

8. Cần đến truyền kháng sinh để điều trị triệt để nhiễm trùng.

9. Bị nhiễm trùng nặng, nhiễm trùng huyết hai hoặc nhiều hơn trong năm.

10. Tiền sử gia đình bị suy giảm miễn dịch tiên phát: có người bị bệnh

nhiễm trùng tái phát, bệnh tự miễn, tử vong không rõ nguyên nhân

(dưới 30 tuổi).

- Mắc bệnh dị ứng, tự miễn, đau khớp.

b. Khám lâm sàng:

khám toàn diện, cần lưu ý các dấu hiệu sau.

• Tổng trạng có lừ đừ, suy kiệt, sụt cân, suy dinh dưỡng nặng.

• Đánh giá mức độ và vị trí nhiễm trùng.

• Tuổi lúc phát bệnh, vị trí bệnh để chẩn đoán thể bệnh.

• Vị trí nhiễm trùng thường gặp.

• Một số bệnh SGMD tiên phát lúc mới phát là bệnh lý miễn dịch như: Thiếu máu huyết tán tự miễn, xuất huyết giảm tiểu cầu miễn dịch, viêm tuyến giáp tự miễn, viêm mạch máu, Lupus đỏ hệ thống, viêm khớp dạng thấp.

• Một số bệnh SGMD tiên phát lúc mới phát bệnh là bệnh lymphoma, tim bẩm sinh (thể thân động mạch chung), hoặc hạ Calci máu, hoặc X-quang không có tuyến ức.

c. Đề nghị xét nghiệm

• Xét nghiệm sàng lọc ban đầu:

- Huyết đồ đầy đủ.

- Điện di protein.

- Xét nghiệm khảo sát nhiễm trùng.

• Xét nghiệm chuyên sâu:

- Định lượng IgG, IgM, IgA,IgE.

- Khảo sát dấu ấn miễn dịch tế bào lympho.

- Chẩn đoán di truyền (khi có hypogammaglobulin, tìm đột biến gen Btk).

2. Chẩn đoán xác định (theo WHO 2007, khi bệnh nhân hội đủ các tiêu chuẩn sau)

• Có nhiễm trùng tái phát nhiều lần: khi có trên 2 dấu hiệu cảnh báo trong 1 năm (10 dấu hiệu cảnh báo theo JMF 40).

• Bất thường tế bào bạch cầu về số lượng hay chức năng trong máu ngoại biên.

• Bất thường nồng độ kháng thể miễn dịch trong huyết tương.

• Có tính di truyền trong gia đình.

• Xác định có gen đột biến.

3. Chẩn đoán có thể

Khi bệnh nhân hội đủ các tiêu chuẩn sau:

a. Có nhiễm trùng tái phát nhiều lần: khi có trên 2 dấu hiệu cảnh báo (10 dấu hiệu cảnh báo theo JMF *).

b. Giảm tế bào bạch cầu có 1 trong các tiêu chuẩn sau

• Lympho bào < 2,2 x 109/L (sơ sinh), < 2,5 x 109/L (trẻ < 5 tuổi) hoặc < 1,5 x109/L (trẻ > 5 tuổi). VÀ

• Giảm nồng độ kháng thể khi có 1 trong các tiêu chuẩn sau:

- Agammaglobulin: IgG < 100mg/dL.

- Hypogammaglobulin IgG < 400mg/dL.

- Panhypogammaglobulin: IgG < 400 mg và IgAị, IgMị.

- Severve selective IgA deficiency: IgA < 7mg/dL (>4 tuổi).

- Partial selective IgA deficiency: IgA > 7 và thấp so với bình thường ± độ lệch chuẩn.

- Hyperimmunoglobulin E syndrome: IgE >2000 IU/ml.

c. Bất thường tế bào T, B hay NK khi có 1 trong các tiêu chuẩn sau

• Tế bào CD4 < 1000 tb/ụl (trẻ < 5 tuổi); < 500tb/ụl (trẻ > 5 tuổi).

• Tế bào CD19 < 100 tb/ụl (hay dưới 2% lympho bào).

• CD16/56 < 2%.

d. HOẶC có bất thường bạch cầu hạt (neutrophil)

• Neutrophil > 25, x 109/L và có dấu ân tế bào CD18 (-), CD11 giảm

• Neutrophil < 1,0 x109/L.

• HOĂC: phết máu ngoại biên:

- Hạt azurophilic hiện diện trong neutrophil, eosinophil hoặc

- Neutrophil chỉ có 2 thùy và không có hạt.

e. Và hoặc có tiền sử gia đình

4. Chẩn đoán phân biệt các thể bệnh SGMD tiên phát có giảm kháng thể

Bảng 1. Đặc điểm miễn dịch và chẩn đoán phân tử của các thể bệnh SGMD tiên phát có giảm kháng thể miễn dịch. Theo Bonilla F.A. uptodate (2011).

Bệnh

Tên bệnh viết tắt

Flow cytometry Serum Immunoglobulin (mg/dL) Chẩn đoán di truyền Tuổi phát bệnh Miễn dịch liệu pháp

X-linked

Agammaglobulinemia

XLA

B < 2% IgG< 400 IgM<20 IgA< 20 B cell tyrosine kinase > 6 tháng tuổi Cần

Hyper IgM syndrome: Activation-induced adenosine deaminase deíiciency Uracil nucleoside glycosylate deíiciency

AID

UNG

T ↔ B ↔ IgG < 200 IgA < 20 IgM: 100-3700 CD40 ligand > 6 tháng tuổi Cần

Common variable immunodeíiciency

CVID

T ↓ và hoặc B ↓ IgG < 400 IgM < BT IgA < BT Chưa xác định Mọi tuổi Cần Severe combine immunodeficiency SCID T < 20% IgG↓ IgM↓ ┴ IgA↓ Tùy đột biến < 6 tháng Cần Selective IgA deficiency IGAD ↔ IgA< 7 IgG↔ IgM ↔ TACI > 4 tuổi Không IgG subclass deficiency IGGSD ↔ IgG subclass ↓ Mọi tuổi Tùy Wiskott Aldrich syndrome WAS CD8 ↓ B ↔ IgG ↔, IgM↓ IgA↑, IgE ↑ WAP Sơ sinh Cần Transient hypogammaglobulinemia of infancy THE T ↔ B ↔ IgG ↓ IgM ↔ IgA ↔ Không 3-24 tháng Không

• Ký hiệu vi��t tắt:

↔: không thay đổi

↓: giảm

↑: tăng

>: cao hơn

<: thấp hơn

• Tên viết tắt

- XLA: X-linked agammaglobulinemia.

- AID: activation-induced adenosine deaminase deficiency.

- CVID: common variable immunodeficiency.

- IGAD: IgA deficiency.

- IGGSD: IgG subclass deficiency.

- SAD: specific antibody deficiency (with normal immunoglobulins).

- THI: transient hypogammaglobulinemia of infancy.

- TACI: Transmembrance activator and calcium-modulator and cyclophilin ligand interactor”.

- WAP: Wiskott Aldrich Protein.

- WAS: Wiskott Aldrich syndrome.

III. ĐIỀU TRỊ & PHÒNG BỆNH

1. Nguyên tắc

Đây là bệnh lý di truyền do đó phát hiện sớm, chẩn đoán sớm và can thiệp sớm sẽ cải thiện tiên lượng sống của bệnh nhi.

• Điều trị phòng ngừa nhiễm trùng.

• Điều trị nhiễm trùng cơ hội.

• Miễn dịch liệu pháp.

• Lưu ý về chủng ngừa.

2. Miễn dịch liệu pháp

• Chỉ định Immunoglobulin: nhiễm trùng nặng: nhiễm trùng huyết, viêm phổi nặng, nhiễm trùng thần kinhh trung ương.

• Liều: Immunoglobulin trung bình 0,4 g/kg/lần truyền tĩnh mạch chậm tùy theo chế phẩm.

• Phản ứng khi dùng IVIG trong bệnh SGMD tiên phát

- Phản ứng liên quan tới tốc độ truyền.

- Sốc phản vệ.

3. Kháng sinh phòng bệnh

• Chỉ định: kháng sinh phòng bệnh khi bệnh nhân SGMD tiên phát có 1 trong các tiêu chuẩn sau:

- Bệnh nhân bị giảm kháng thể gammaglobulin; giảm IgA; hay giảm chọn lọc các thể phụ của IgG và bệnh SGMD không có chỉ định truyền Immunoglobulin định kỳ. Đối với nhóm này có chỉ định dùng kháng sinh trong giai đoạn cụ thể: mùa dễ mắc bệnh như mùa lạnh hay mùa mưa, hoặc trong giai đoạn trẻ nhỏ.

- Bệnh nhân giảm nặng kháng thể và có dùng IVIG định kỳ nhưng vẫn có nguy cơ nhiễm trùng.

• Kháng sinh: chọn một trong các thuốc sau, 3 ngày/tuần.

- Amoxicillin: 20 mg/kg/ngày uống 1 lần.

- Trimethoprim-Sulfamethoxazol (Bactrim): 5 mg/kg/ngày.

4. Chủng ngừa

Bệnh nhân được chỉ định chủng ngừa theo lịch. Không chủng ngừa các vaccin sống giảm độc lực như sởi, quai bị, rubella, polio, cúm, rotavirus và BCG.

5. Giáo dục về phòng bệnh cho gia đình

• Tăng cường biện pháp vệ sinh: Rửa tay, vệ sinh răng miệng, nước sinh hoạt

• Hạn chế tiếp xúc gần gũi, ngủ chung với người các thành viên trong gia đình. Khuyến cáo các thành viên gia đình, người tiếp xúc lân cận nên chủng ngừa đầy đủ nhất là cúm.

• Tái khám và theo dõi qúa trình phát triển, phòng tránh nhiễm trùng

LƯU ĐỒ CHẨN ĐOÁN SUY GIẢM MIỄN DỊCH TIÊN PHÁT

(Lấy từ Hauk. PJ et al (2011) Immunodeficiency. Current Diagnosis & Treatment in Pediatrics.31:921)

.Bài viếtTIẾP CẬN BỆNH LÝ SUY GIẢM MIỄN DỊCH TIÊN PHÁT Ở TRẺ EM Ở TRẺ EM xuất hiện lần đầu tại website http://khamgiodau.com

0 notes