#macroglossia in adults

[hopkinrx]

Macroglossia Or Long Tounge: Its Important Causes, Effects, and Management

IntroductionAnatomy and BasicsThe Tongue’s Vital RoleDefining MacroglossiaCauses and VariationsEffects on Daily LifeDiagnosis and ManagementMedical EvaluationTreatment ApproachesPsychosocial Impact and SupportConclusionMacroglossia Or Long Tounge: Its Important Causes, Effects, and Management (FAQs)Is macroglossia a rare condition?Can macroglossia be treated without surgery?Is macroglossia…

[lupinepublishers]

lupine publishers| Infected Lymphangioma Tongue Presenting as Macroglossia – A Case Report 

Lymphangioma   is   a   benign   hamartomatous   hyperplasia   of   lymphatic  vessels,  with  three-fourths  of  all  cases  occurring  in  the  head and neck region [1-4]. Lymphangioma was first described by Redenbacher in 1828 and Lymphangioma of the tongue was first described  by  Virchow  in  1854  [2].  The  onset  of  Lymphangioma  is  either  at  birth  (60  to  70%)  or  up  to  two  years  of  age  (90%).  It  is  rare  in  adults  [3-6].  Lymphangioma  represent  about  6%  of  the  total  number  of  benign  tumors  of  the  smooth  tissue  in  patients  aged less than 20 years [7]. The oral localization of Lymphangioma is   less   usual,   and   the   most   common   site   in   this   case   is   the   tongue,  especially  the  anterior  two  anterior  [8].  Lymphangioma  usually  affect  the  ventral  part  of  the  tongue  and  are  solitaire  or  circumscribed.  Occasionally,  they  are  associated  with  Cystic  Hygroma  [9].  Rarely  they  are  seen  on  the  palate,  gingiva,  buccal  mucosa,  and  lips.  In  children,  intraoral  lymphangioma,  especially  tongue  lymphangioma  leading  to  macroglossia,  may  cause  speech  disturbances,  poor  oral  hygiene,  mandibular  prognathism,  open  bite, yawning, chewing difficulties, and maxillofacial deformities [6].  Therefore,  appropriate  and  timely  treatment  is  essential  to  avoid  undesirable  consequences,  which  in  most  cases  are  caused  by  macroglossia  due  to  tongue  tumors.  Various  modalities  have  been  applied  for  treatment  of  lymphangioma  of  the  tongue.  Main  aims of the treatment are to give symptomatic relief of pain, edema, lymph  and  blood  leakage,  and  prevent  super  infections,  as  well  as  addressing  cosmetic  concerns.  The  ideal  treatment  is  surgical  excision; however, this cannot be applied in all cases and leaves a scar [10]. Other treatment modalities include cryotherapy, radiation therapy,   steroid   administration,   Sclerotherapy,  

Ricciardelli  LJ  and  Richardson  MA  [13]  demonstrated  that Suprahyoid  lymphangiomas  had  a  significantly  higher  rate  of recurrence  than  Infrahyoid  lymphangiomas  [14].  The  commonest complication    of    the    lymphatic    malformations    is   infection,    associated  with  the  growth  of  the  lesion. Lymphocytopenia  has  been documented in all these patients, although a clear correlation with the infection risk must be established [14]. The rapid growth of Lymphangioma can be associated with hemorrhage or can lead to obstruction of the upper respiratory tract, 50% from the children with these lesions requiring tracheotomy [15]. For inexperienced clinicians or in lesions with atypical clinical features a definitive diagnosis  should  be  made  through  biopsy  and histopathological  examination.  Dental  preventive  programs  must  be  performed especially for children with macroglossia until surgery is possible. The inability to perform normal dental hygiene activities increases the risk of caries and gingivitis. Adequate surgery helps patients to keep the tongue inside as a good cosmetic result and they also have less orthognathic deformities [8].ConclusionOral   Lymphangiomas   are   uncommon   lesions   occurring   at   the  dorsal region  of  the  tongue.  Conventional  treatment  with  surgical excision with sufficient depth and width is recommended but  because recurrence  is  common  and  also  not  possible  in  all  the  cases hence  other  treatment  modalities  are  also  used  like cryotherapy, laser therapy  etc are also used; the later also can be used with superficial lesions. Knowledge for correct diagnosis is of fundamental  importance  and  for  proper  therapeutic  implications. Their  early  recognition  allows  proper  initiation  of  treatment and  prevents the occurrence of the complications. Lymphangiomas   are   uncommon   congenital   hamartomas   of   the   lymphatic   system,   usually   diagnosed   in   infancy   and   early   childhood as lobular masses or cystic lesions. They may be present anywhere  on  the  skin  and  mucosa.  The  most  usual  locations  are the head and neck, followed by the proximal extremities, buttocks and trunk. Sometimes they can be located at intestinal, pancreatic and mesenteric  level.  Lymphangioma  rarely  affect  the  oral  cavity. Affected  sites  in  the  oral  cavity  may  include  the  tongue, palate,  gingival  and  oral  mucosa,  lips,  and  alveolar  ridge  of the  mandible  [8]. Two major theories have been proposed to explain the origin of lymphangiomas [11]. The first theory is that the lymphatic system develops from five primitive sacs arising from the venous system. Concerning the head and the neck, endothelial outpouchings from the  jugular  sac  spread  centrifugally  to  form  the  lymphatic system.  Another theory proposes that the lymphatic system develops from mesenchymal clefts in the venous plexus reticulum and spread centripetally   towards   the   jugular   sac.   Finally,   lymphangioma   develop   from   congenital   obstruction   or   sequestration   of   the   primitive lymphatic enlargement. Histopathological classification of lymphangioma is as follows: a) Lymphangioma simplex, small thin-walled lymphatic vessels.b) Cavernous   lymphangioma,   dilated   lymphatic   vessels   with   surrounding adventitia.c) Cystic lymphangioma,  large  lymphatic  spaces  surrounded  by  fibrovascular tissue; and d) Benign      lymphangioendothelioma,      lymphatic     channels      separated by collagen bundles [2]. These categories are somewhat artificial, and many lesions are   combinations   of   categories.   The   differential   diagnosis   for   lymphangioma   includes   Hemangioma,   Amyloidosis,   Congenital   hypothyroidism, Neurofibromatosis,  Mongolism,  Primary muscular hypertrophy. Lymphangioma are known to be associated with  Turner’s  syndrome, Noonan’s  syndrome,  trisomies,  cardiac  anomalies,  fetal  hydrops, fetal  alcohol  syndrome,  and  Familial  pterygium colli [6]. A classification of the lymphangioma of head and neck on the base of the spread the anatomical involvement had been proposed by De Serres LM [12]: a. Stage/class I – Infrahyoid unilateral lesions.b. Stage/class II – Suprahyoid Bilateral Lesions.c. Stage/class III – Suprahyoid or Infrahyoid Unilateral Lesions.d. Stage/class IV – Suprahyoid Bilateral Lesions.e. Stage/class V – Suprahyoid or Infrahyoid Bilate electrocautery,   embolization,  ligation,  laser  surgery,  and  radiofrequency  tissue  ablation.    Successful    treatment    necessitates    inclusion    of    a    surrounding  border  of  normal  healthy  tissue  without  damage  of  vital  structures.  The  following  case  report  is  of  a  patient  with  Lymphangioma of the tongue and its management.Case Report A  young  female  of  20  years  presented  to  the  department  of  ENT  at  Mayo  Institute  of  Medical  Sciences,  Barabanki  with  chief  complaints  of  progressively  increasing  size  of  the  tongue  for  the  past few years with difficulty in swallowing and dribbling of saliva from the mouth. Recently she started developing difficulty in eating food  and  closing  the  mouth  due  to  fullness.  Her  speech  was  also  affected  but  her  sensation  of  taste  was  intact.  The  patient  also  complained  of  bleeding  from  the  lesion  site  on  incurring  trauma  like  mild  injury  tooth  during  mouth  closure.  She  also  complained  of   tongue   bite   during   mastication.   On   inspection   tongue   was   there  was  a  reddish  blue  colored  marked  soft  tissue  swelling  involving  entire  tongue  with  numerous  papillary  and  vesicle-  like  projections  which  made  it  appear  irregular  and  granular  (Figure  1). On palpation, the swelling was soft, non-tender and pebbly. The surface  was  irregular.  The  mouth  opening  was  normal  and  there  was  no  restriction  of  functions  of  the  tongue  however  slurring  of  speech  was  noted.  On  the  basis  of  history  and  clinical  features  a  provisional diagnosis of vascular anomaly of the tongue was made and  the  patient  was  subjected  to  Fine  needle  aspiration  cytology  of  the  tongue  which  was  inconclusive  hence  later  a  small  biopsy  was  done  under  local  anesthesia  which  turned  out  to  be  Infected  Lymphangioma Tongue (Figure 2). Her systemic examination did not reveal any other congenital anomaly. Since the lesion involved whole of the tongue (both anterior and posterior) hence we decided not to operate and go with Sclerotherapy of the lesion. Patient was admitted and properly investigated and taken up for the procedure after explaining the risks and expected response. 1 ml SETROL (Sodium Tetradecyl Sulphate) with dilution was used for each side of the tongue, the patient experienced swelling of the tongue in the evening  which  resolved  by  the  morning  and  otherwise  tolerated  well. A total of 2 such injections were given at an interval of 1 month which resoled the lesion, her macroglossia got reduced and papilla on  the  dorsum  of  tongue  reappeared  and  all  other  symptoms 

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[mcatmemoranda]

When I hear "neuroblastoma," I think "brain tumor." But it's a tumor in the adrenal medulla. It makes sense to call it a "neuroblastoma" though because the adrenal medulla is made of chromaffin cells, which are neuroendocrine cells. That kind of thing is counterintuitive.😫 Anyway, neuroblastoma is the most common tumor of the adrenal medulla in peds less than 4 years old. It can occur anywhere along the sympathetic chain. Neuroblastoma can cause firm irregular abdominal mass that crosses the midline (whereas a wilms tumor is smooth and unilateral). Pts with neuroblastoma may have opsoclonus-myoclonus syndrome ("dancing eyes-dancing feet"). Catecholamine metabolites HVA and VMA are increased in urine. The tumor is positive for bombesin and neuron-specific enolase (NSE). Homer-Wright rosettes are seen in neuroblastoma and medulloblastoma. It's an Amine Precursor Uptake Decarboxulase (APUD) tumor.

Wilms tumor is a nephroblastoma (the prefix makes it easy to confuse with neuroblastoma😬). Wilms tumor is the most common malignant renal tumor in peds age 2 to 4 (so it's in the kidney whearas neuroblastoma is in the adrenal medulla/sympathetic chain). Wilms tumor is due to loss of function of WT1 and WT2, which are tumor suppressor genes. Wilms tumor can be found in WAGR syndrome (Wilms tumor, Aniridia, GU malformations, mental Retardation [WT1 deletion]).

Denys-Drash Syndrome = wilms tumor, early onset nephrotic syndrome, male pseudohermaphroditism (WT1 mutation).

Beckwith-Wiedemann = wilms tumor, macroglossia, organomegaly, hemihyperplasia (WT2 mutation).

The most common renal medulla tumor in peds is neuroblastoma. But in adults, it's pheochromocytoma. For whatever reason, kids with neuroblastoma are less likely to have HTN. Pts with pheochromocytoma have high BP. Recall HA, palpitations, and diaphoresis = pheochromocytoma. Rule of 10's for pheochromocytoma = 10% are malignant, 10% are B/L, 10% are extra-adrenal (bladder wall, abdominal aorta & its branches [organ of zuckerlandl]), 10% calcify, 10% kids.

[lupine-publishers-sjo]

Lupine Publishers | Apnea, Hypopnea and Their Individual Effects on Daytime Sleepiness and Sleep Quality

Lupine Publishers | Journal of Otolaryngology

Abstract

Background: Obstructive sleep apnea and hypopnea syndrome (OSA) is defined as a reduction or cessation of the airflow in the human airway. It effects nearly 18 million Americans and weight gain is the main predisposing factor. In this study, we aimed to investigate the effects of apnea and hypopnea individually.

Material and Methods: 83 participants were included in the study and they are divided into two groups as apnea predominant or hypopnea predominant. Pittsburg quality of sleep index (PQSI) and Epworth sleepiness scale (ESS) are completed for all subjects and full-night attended polysomnographic evaluations are done.

Results: ANOVA test was used to compare the inter-group variances. Between the two study groups, no statistical significance was reported between the PSQI or ESS scores.

Conclusion: The effects of apnea and hypopnea are similar on sleep quality or day-time sleepiness, however further studies also investigating the duration of the events as well are needed.

Abbreviations: OSA: Obstructive Sleep Apnea/Hypopnea Syndrome; PSG: Polysomnography; PSQI: Pittsburgh Sleep Quality Index; ESS: Epworth Sleepiness Scale.

Introduction

Obstructive sleep apnea and hypopnea syndrome (OSA) is reviewed under the sleep related breathing disorders. The diagnostic criteria must satisfy daytime sleepiness, fatigue or nonrestorative sleep, waking up with breath holding, gasping or choking, witnessed apnea periods and comorbidities such as hypertension, mood disorder, cognitive dysfunction, coronary artery disease or type 2 diabetes mellitus may accompany the disease. The full-night polisomnography (PSG) must demonstrate at least five obstructive respiratory events (apnea, hypopnea, respiratory effort related arousals) per hour of sleep (apnea/hypopnea index, AHI), but AHI below 15 needs the abovementioned signs for a complete diagnosis [1]. OSA may be seen in any age group, nevertheless published data from several countries indicate that OSA associated with daytime sleepiness occurs in 3% to 7% of adult men and 2% to 5% of adult women. However, because many individuals with OSA do not endorse daytime sleepiness, the prevalence of the disease is likely much higher [2]. The major predisposing factor for OSA is excess body weight. It has been estimated that nearly 60% of moderate to severe OSA is attributable to obesity. The risk of OSA increases as the degree of additional weight increases, with an extremely high prevalence of OSA in people with morbid obesity [3]. Several factors are implicated in the development of OSA [4].

The main cause addresses the reduction of the expansion forces of the dilator muscles of the upper airways. The capacity of the muscles decreases more during the REM sleep. Additional factors are excessive or elongated tissues of the soft palate, macroglossia, tonsillar hypertrophy, and a redundant pharyngeal mucosa [5]. OSA and comorbidities such as stroke, hypertension, metabolic syndrome, cardiovascular diseases or endocrinologic disorders are well taught in years, however the individual effects of apnea or hypopnea alone are never considered. To best of our knowledge, the published data does not mention which entity alone is more harmful to systemic functions or at least sleep, apnea or hypopnea? The Pittsburgh Sleep Quality Index (PSQI) is an effective instrument used to measure the quality of sleep in the adult. It differentiates “poor” from “good” sleep by measuring seven domains: subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, use of sleep medication, and daytime dysfunction over the last month. A global sum of “5” or greater indicates a “poor” sleeper [6]. The Epworth Sleepiness Scale (ESS) is a self-administered questionnaire with 8 questions. Respondents are asked to rate, on a 4-point scale, their usual chances of dozing off or falling asleep while engaged in eight different activities. The higher the ESS score, the higher that person’s daytime sleepiness and scores higher than 10 are significant. In this study, we compared apnea versus hypopnea due to the sleep quality and daytime sleepiness individually.

Materials and Methods

Between July 2017 and January 2019, 327 cases complaining of snoring, daytime sleepiness and witnessed sleep apnea periods were referred to full-night polisomnography. 150 cases were diagnosed as OSA were enrolled in the study. After the final assessment, a total number of 83 participants were chosen. The ethical committee approval was taken from Okmeydani Training and Research Hospital (48670771-514.10) and informed consent are taken from all participants.

   PSG        

3 Channel EEG (F4-M1, C4-M1, O2-M1), 2 channel EOG, chin, right and left tibialis anterior EMG, body position sensor, oro-nasal thermal sensor, nasal pressure sensor, thoracic and abdominal sensors, ECG, pulse-oximetry and synchronous video recordings and breath sound recordings were the parameters recorded through the night. The examination, sleep and wake periods and sleep related disorders were scored according to the criteria of the American Academy of Sleep Medicine [7].

   Clinical Examination and Laboratory Tests    

All participants underwent a detailed otolaryngologic examination including the fiberoptic naso-pharyngolaryngoscopy. Mueller maneuver was made to detect the pharyngeal collapse, vallecula epiglottica was visualized to assess the bulkiness, Friedmann Tongue Positions and Tonsil Gradings are made to determine the glossopharyngeal patency. Complete blood count and routine biochemical blood tests including the thyroid function tests were studied. PSQI and ESS were completed for each participant.

   Study Design    

In order to emphasize the individual effects of apnea or hypopnea, each PSG were examined and if apnea was higher than hypopnea by 50% or vice versa, that participant was included in the study. The study group, therefore, was divided into two as apnea predominant (AP) and hypopnea predominant (HP). Comorbid pulmonary or neurologic disorders, sleep disorders other that OSA (Central sleep apnea, Hypersomnolence, Parasomnias, Circadian rhythm disorders, etc.) were excluded. Also, pediatric population were not included in the study.

   Statistical Analysis    

A statistical analysis was performed using IBM SPSS Statistics 22 (IBM SPSS, Turkey). Continuous data was displayed as the mean ± standard deviation. Statistical significance was a p-value of greater than 0.05. A Shapiro–Wilk test showed the normal distribution of the parameters. ANOVA test was used to compare the normally distributed inter-group comparisons of the descriptive statistical methods (mean, standard deviation, and frequency) and the quantitative data.

Results

A total number of 83 participants aged between 24-64 years (mean 46±10 years) were studied. 61 were male (73.49%) and 22 were female (26.51%). The inter-group characteristics are shown in Table 1. The PSQI between AP and HP groups were not statistically significant (p=0.205). Similarly, ESS between AP and HP groups were also not statistically significant (p=0.240) (Figure 1).

Figure 1:   AP versus HP by means of PSQI and ESS.

Table 1:   Subject characteristics and statistical comparisons.

ANOVA test showed no statistical significance among variances.

OSA is defined as the reduction or cessation of airflow for at least ten seconds. The entity is almost every time in association with snoring, and between the snores, airflow may stop completely (apnea) or reduction in the airflow (hypopnea) may happen. If there is a body effort to breathe, the disease is termed obstructive, otherwise it is central. In the presence of a collapsible airway, sleepinduced loss of tonic input to the upper airway dilator muscle motor neurons allows the pharyngeal airway to collapse [8]. The general reaction to this airway obstruction is arousal; sleep then resumes, leading to repeated cycling of sleep, intermittent hypoxia, and arousal throughout the night. Neurocognitive effects of OSA include daytime sleepiness and impaired memory and concentration; cognitive impairment and neural injury may develop in association with sleep apnea [9,10]. Sleep-disordered breathing and OSA are not reported frequently in animals but a natural animal model

Discussion

OSA is defined as the reduction or cessation of airflow for at least ten seconds. The entity is almost every time in association with snoring, and between the snores, airflow may stop completely (apnea) or reduction in the airflow (hypopnea) may happen. If there is a body effort to breathe, the disease is termed obstructive, otherwise it is central. In the presence of a collapsible airway, sleepinduced loss of tonic input to the upper airway dilator muscle motor neurons allows the pharyngeal airway to collapse [8]. The general reaction to this airway obstruction is arousal; sleep then resumes, leading to repeated cycling of sleep, intermittent hypoxia, and arousal throughout the night. Neurocognitive effects of OSA include daytime sleepiness and impaired memory and concentration; cognitive impairment and neural injury may develop in association with sleep apnea [9,10]. Sleep-disordered breathing and OSA are not reported frequently in animals but a natural animal model of OSA is English bulldogs, which have been used to study upper airway anatomy and physiology and the pharmacologic treatment of OSA. English bulldogs have an enlarged soft palate and narrow oropharynx and display many of the clinical features of OSA, including snoring, sleep-disordered breathing, oxyhemoglobin desaturation during sleep, frequent arousal from sleep, and hypersomnolence with shortened sleep latencies [11]. OSA in English bulldogs is not related to obesity, as it often is in humans. OSA has been modeled in a variety of species by using surgical tracheostomy and subsequent intermittent occlusion of the endotracheal tube [12]. Schoorlemmer et al. [13] produced obstructive apnea in conscious rats by using an inflatable balloon implanted in the trachea and apneic episodes of as long as 16 s in duration could be created during sleep. However, animal models of intermittent hypoxemia have several drawbacks. In many cases, the models mimic severe human OSA and may be less applicable to most clinical OSA. In addition, animals exposed to intermittent hypoxemia develop hypocapnia, whereas human OSA is characterized by hypercapnia. Furthermore, human OSA typically is associated with obesity, which is not always considered in animal studies. In addition, OSA causes sleep fragmentation, which may have independent effects on metabolism. Thus, exposure of animals to intermittent hypoxemia produces repeated arousals and changes in sleep architecture that are comparable to those in clinical OSA, yet the effects may not be persistent, limiting their use for studying long-term metabolic consequences of OSA [14].

Animal models are troublesome to study the long-term effects of sleep fragmentation. The sleep quality is a bio-psycho-social parameter that may never be evaluated in animal models; for example, as we refer to excessive daytime sleepiness, the subject is asked whether the sleepiness occurs in the passive state such as resting periods or during the active periods such as work-time or social interactions. Moreover, the sleep architecture, ultradian rhythm or sleep quality may not be assessed in animal models. In our study, the effects of apnea or hypopnea on sleep quality or daytime sleepiness did not differ. This might have several reasons; first of all, all PSG were done elsewhere, our otolaryngology clinic is not capable to perform full-night attended PSG. This situation has some major drawbacks; it is impossible to mark each breath disorders epoch by epoch on the screen of the test computer, but we rather have a brief report of the night. This makes it impossible to calculate the duration of the respiratory events. Therefore, we only could compare the nature of the events by their scores or numbers (Table 1). Secondly, there are some other factors that may interfere with the sleep architecture such as drops in the oxygen levels; not every subject has the same decreasement in their oxyhemoglobine when they have the same level and duration of airway collapse. Thirdly, limb movements also disrupt the sleep quality and impede normal daytime cognitive functions. Finally, arousals are another issue to study; if OSA is recently developed in the subject, the peripheric chemoreceptors detecting the airflow cessation are more sensitive and arousal happens imminently, if the disease is longer the receptors may become insensitive that happens in sleep continuity despite the airflow cessation. Nonetheless, to best of our knowledge, there is no other study that tried to investigate the effects of apnea of hypopnea individually on sleep quality or daytime sleepiness.

Conclusion

The effects of apnea and hypopnea are similar on sleep quality or daytime sleepiness, however further studies also investigating the duration of the events as well are needed.

For more Lupine Publishers Open Access Journals Please visit our website: h https://lupinepublishersgroup.com/ For more Journal of Otolaryngology-ENT Research articles Please Click Here: https://lupinepublishers.com/otolaryngology-journal/

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[trendyonlinesolution-blog]

Simpson Golabi Behmel Simpson Golabi Behmel in Canada SGB in Canada SGB

Simpson-Golabi-Behmel syndrome is a quality that affects many parts of the body and occurs primarily in males. This condition is confidental as an overgrowth syndrome, which means that affected infants are appreciably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other predication and manifestation of Simpson-Golabi-Behmel syndrome vary widely. People with mild cases often live into adulthood.

People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the intermediate, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition.

Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Afflicted infants may be born with one or more additional nipples, an unexpected aperture in the muscle covering the midsection, a soft out-pouching around the belly-button , or a hole in the diaphragm that allows the stomach and intestines to move into the chest and crowd the evolving heart and lungs.

Simpson-Golabi-Behmel problem can also element heart deficiency, deformed or abnormally large kidneys, an expanded liver and spleen, and skeletal irregularity. Additionally, the problem can affect the expansion of the gastrointestinal system, urinary system, and genitalia. Some people with this situation have mild to severe intellectual disability, while others have normal intelligence.

https://www.gbscidp.ca

[pharmanswerspod]

Tongue Issues - Episode 106

Born With...

Ankyloglossia is also known as a tongue tie.  It is a result of a short frenulum.  This issue is easily corrected if it interferes with eating and talking.

Macroglossia is a large tongue.  This is one of the identifiable characteristics of Down's Syndrome.  It is described as the tongue appears to be bigger than space in the mouth.

Infected With...

Strawberry tongue

The tongue can appear extremely red and papillae are swollen to look like seeds on a strawberry.  This is a symptom of several conditions.

Kawasaki Disease is a rare but serious childhood inflammatory disease.  Because this involves the blood vessels becoming inflamed, the blood vessels in the tongue are also affected.

Scarlet Fever is caused by the same bacteria is strep throat.  The infection goes from just being strep throat to being scarlet fever when the bacteria toxins spread in the bloodstream and cause widespread symptoms.

Toxic Shock Syndrome is when the bacteria called as Staph aureus (yes, this is the staph that lives on your skin and can cause wound infections) gets into the bloodstream.  This is a medical emergency and needs to be treated immediately.

Hairy Tongue

White hairy tongue appears as patches on the sides of the tongue.  It can happen when someone who is immunocompromised gets the Epstein-Barr Virus. (Epstein-Barr is a virus that causes mild childhood illness or a disease we know as Mono when teens and adults.)

Black hairy tongue is a little more obscure with a few possibilities of causes.

Smoking, excessive coffee or tea consumption, excessive alcohol consumption, or soft diet - inability to shed dead skin cells

Antibiotic overuse - overgrowth of fungus or bacteria

Overuse of peroxide-based mouthwash - oxidation

Function Lost

Motor Neuron Disease occurs in the later stages of ALS or Lou Gerig's Disease, when the nerves and muscles of the tongue for speech and swallowing become affected.

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Music Credits: Up In My Jam (All Of A Sudden) by - Kubbi https://soundcloud.com/kubbiCreative Commons — Attribution-ShareAlike 3.0 Unported— CC BY-SA 3.0 http://creativecommons.org/licenses/b...Music provided by Audio Library https://youtu.be/tDexBj46oNI

A new episode from the Pharmacist Answer Podcast!

[lupinepublishers]

Lupine Publishers | Varied clinical and Oral Presentation of Beckwith – Wiedemann Syndrome - Report of a Case from Saudi Arabia

Lupine Publishers | Journal of Pediatric Dentistry Impact Factor

Abstract

Beckwith – Wiedemann syndrome is congenital, genetic and epigenetic pathologies with low prevalence and diverse clinical presentations. It is characterized by triad of omphalocele, macroglossia and gigantism. This syndrome has been widely studied with a current emphasis on improvement of prenatal diagnostic techniques and a multidisciplinary approach towards treatment. We report a case of BWS from Saudi Arabia, with unique presentations and misleading history which delayed diagnosis, due to cultural and religion constraints.

Keywords:Congenital; Epigenetic; Genetic; Prenatal

Introduction

Genetic and epigenetic changes or a human genomic imprinting disorder is characterized by phenotypic variability which might shows its occurrence either as sporadic or inherited. The pathology presents wide range of effect on psychological and social wellbeing of patients and families. One such congenital, multigenic, multisystem human genomic imprinting disorder with complex molecular etiology and variable complex phenotype is Beckwith – Wiedemann Syndrome (BWS). Beckwith-Wiedemann Syndrome is most common overgrowth syndrome described by Beckwith in 1963 and Wiedemann in 1964 with similar findings. It is rare congenital deformity with low prevalence but at same time have high prevalence within genetic abnormalities of overgrowth [1]. The presentation of triad features of omphalocele (exomphalos), macroglossia and gigantism was described earlier as EMG syndrome which now is referred as Beckwith – Widemann Syndrome. The incidence of BWS reported is approximately 1:13700 births and the major cause is thought till date is genetic and epigenetic defects within the chromosome 11p15.5 regions [2].

BWS presents wide array of clinical manifestations such as congenital abdominal wall defects as hernia (exomphalos), gigantism, macroglossia, nevus flammeus, ear pits/hearing loss, midface hypoplasia, cardiac anomalies, hemihypertrophy, genitourinary anomalies and musculoskeletal abnormalities. To standardize the diagnostic criteria various attempts have been made to classify the major and minor criteria. Elliot et al described the diagnosis of BWS with the presence of either three major features (abdominal wall defect, macroglossia, gigantism) or two major and three minor features (ear pits, nevus flammeus, hemi hyperplasia, nephromegaly, neonatal hypoglycemia) [3]. In spite of diverse clinical presentations of BWS, most of the cases do not show characteristic features at birth but develop later in life. Also, children with BWS have significantly increased risk of cancer during early childhood which need strict follow up and monitoring. Here, we present a case of BWS with unique dental and medical presentation and its differential diagnosis with literature review.

Case Report

A 5-year-old female patient, accompanied by her mother, presented to the dental unit with complaint of decay tooth in upper front region of mouth. Extra oral examination revealed dysmorphic features, coarse facies and developmental problems (Figure 1). Intra oral examination of hard tissue showed high arched palate, decayed teeth in relation to 51, 52, 55, 61, 62, 74, 75, 84,85. Oral soft tissue examination revealed macroglossia, enlargement of fungiform papillae and mild loss of filiform papillae (Figure 2). Speech and feeding difficulty were noticed due to macroglossia. History revealed she is the youngest 7th child born out of consanguineous marriage in 30th week by cesarian section. She has a chronic history of constipation for 9 months of age. She passes hard stool once in every 8 to 10 days, by spending long time in washroom. It is associated with decrease in appetite and abdominal pain. She was given Movicol (half the adult dose) twice a day for constipation without any medical prescription. She was also tried with lactulose, glycerin suppository and mineral oil. Under medical supervision fleet enema and contrast enema were performed to relieve constipation and to rule out Hirschsprung disease.

Figure 1: Photograph showing dysmorphic features and hypertelorism.

Figure 2: Macroglossia with enlarged fungiform papillae and loss of filiform papillae.

Other medical findings noticed omphalocele, ear pits, large child at 90th centiles, large rounded eyes with hypertelorism, abdominal soft lax, enlargement of kidney, distention of left renal pelvis with significantly distended urinary bladder, abnormal anatomy of the colon located in left abdomen and partial colonic non – rotation with no evidence of obstruction (Figure 3). Based on the clinical and past medical history a diagnosis of Beckwith – Wiedemann Syndrome (BWS) was made. Series of laboratory investigation were reviewed which presented negative urine examination, alpha – fetoprotein, karyotype, microarray and methylation analysis for BMS. Patient was advised for gene analysis and targeting testing for parents. The gene analysis of CDKN1C gene showed heterozygous alteration consistent with BWS but targeting gene tests were refused by parents. Panoramic radiograph was advised considering the patient chief complaint, which revealed multiple developing permanent tooth buds, protrusion of anterior teeth, open bite and increase in mandibular dimension (Figure 4). Under preventive measures the patient was treated for the decayed teeth and is under follow up from past 6 months.

Figure 3: Photograph showing abdominal wall defect with surgical scar.

Figure 4: Panaromic radiograph showing multiple developing permanent tooth buds, open bite and increased mandibular dimension.

Discussion

Diagnostic criteria for BWS is still a matter of research due to its varied clinical presentations and overlapping features with other various conditions. The presence of major and minor findings is generally helpful in establishing the clinical diagnosis (Table 1). The oral findings as mentioned in the literature and observed in our case has been tabulated in Table 2 [4,5]. The incidence of BWS is difficult to assess in Saudi Arabia, as most of the cases goes undiagnosed and unnoticed. Also attributed to its diverse clinical presentation and difficulty in diagnosing. In the present case, features of macroglossia, macrosomia, omphalocele, abdominal wall defect (treated immediately after birth and surgical scar observed clinically), Renal involvement, ear crease, high arched palate, open bite and increased mandibular dimension, leads to the diagnosis of BWS. Various molecular mechanisms and alterations have been involved in BWS such as abnormal methylation of H19DMR, loss of imprinting of IGF2, chromosomal rearrangements, loss of imprinting of LIT1, uniparental disomy of 11p15 and CDKN1C mutations [2]. The full gene analysis of CDKN1C gene profile were suggestive of BWS in our case and the alteration is thought to be located in the allele inherited from the mother. Parental testing was advised which was refused by the parents. There are various endocrine and overgrowth syndromes that was considered in the differential diagnosis. These included Simpson-Golabi-Behmel syndrome (mutation in X-linked gene, GPC3), Perlman syndrome (Increased risk of neonatal mortality), Costello syndrome (missense mutation in HRAS), Sotos syndrome (Mutation in NSD1) and Mucopolysaccharidosis type IV (lysosomal storage disorder) [6]. Oral findings like macroglossia of BWS needs differentiation from other lesions like lymphangioma, idiopathic muscular hypertrophy, hemangioma, rabdomyomas, amyloidosis, cretinism and acromegaly.

Table 1:  Presenting major and minor features of BWS.

Table 2:  Oral findings of BWS.

The overall risk of BWS for tumor development/malignancies is estimated to range from 4 – 21%. The tumors reported with BWS are mainly embryonal tumors such as Wilms tumor, hepatoblastoma, rabdomyosarcoma, adrenocortical carcinoma and neuroblastoma [7]. The prenatal diagnosis with current technology is increasing representing an important tool to determine some features of BWS before birth. In our case, parents were highly orthodox and refuse to share the detailed prenatal and ultrasonic reports. Few misguided information’s were given by mother which was later clarified with the reports from the subsequent medical hospitals. Patient’s parents were advised for periodic follow up with genetic counselling and the possibility of surgical interventions in the medical units, but they refused to follow and changed the hospitals every time. Hence, an effort was put forward to retrieve the information’s related to the patient while giving her the primary treatment for which she reported to our dental unit. This suggest the need of awareness required in the country like Saudi Arabia, where most of the cases goes unreported/unnoticed or parent’ consent not given or the cultural and religion barriers that prevent reporting such cases. Though the patient was treated with dental fillings, the follow up of the patients is been restricted by the family members.

Conclusion

Beckwith – Wiedemann Syndrome patients usually grow and do well despite being at increased risk of childhood cancer. Hence, strict follow up, awareness of parents and cancer screening is mandatory. Families, physicians and dentists should determine screening schedule including abdominal ultrasound in every three months, blood test to measure alpha-fetoprotein in every six weeks, dental check-up in every six months and other symptomatic treatment schedule as and when required.

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Lupine Publishers | Apnea, Hypopnea and Their Individual Effects on Daytime Sleepiness and Sleep Quality

Lupine Publishers | Journal of Otolaryngology

Abstract

Background: Obstructive sleep apnea and hypopnea syndrome (OSA) is defined as a reduction or cessation of the airflow in the human airway. It effects nearly 18 million Americans and weight gain is the main predisposing factor. In this study, we aimed to investigate the effects of apnea and hypopnea individually.

Material and Methods: 83 participants were included in the study and they are divided into two groups as apnea predominant or hypopnea predominant. Pittsburg quality of sleep index (PQSI) and Epworth sleepiness scale (ESS) are completed for all subjects and full-night attended polysomnographic evaluations are done.

Results: ANOVA test was used to compare the inter-group variances. Between the two study groups, no statistical significance was reported between the PSQI or ESS scores.

Conclusion: The effects of apnea and hypopnea are similar on sleep quality or day-time sleepiness, however further studies also investigating the duration of the events as well are needed.

Abbreviations: OSA: Obstructive Sleep Apnea/Hypopnea Syndrome; PSG: Polysomnography; PSQI: Pittsburgh Sleep Quality Index; ESS: Epworth Sleepiness Scale.

Introduction

Obstructive sleep apnea and hypopnea syndrome (OSA) is reviewed under the sleep related breathing disorders. The diagnostic criteria must satisfy daytime sleepiness, fatigue or nonrestorative sleep, waking up with breath holding, gasping or choking, witnessed apnea periods and comorbidities such as hypertension, mood disorder, cognitive dysfunction, coronary artery disease or type 2 diabetes mellitus may accompany the disease. The full-night polisomnography (PSG) must demonstrate at least five obstructive respiratory events (apnea, hypopnea, respiratory effort related arousals) per hour of sleep (apnea/hypopnea index, AHI), but AHI below 15 needs the abovementioned signs for a complete diagnosis [1]. OSA may be seen in any age group, nevertheless published data from several countries indicate that OSA associated with daytime sleepiness occurs in 3% to 7% of adult men and 2% to 5% of adult women. However, because many individuals with OSA do not endorse daytime sleepiness, the prevalence of the disease is likely much higher [2]. The major predisposing factor for OSA is excess body weight. It has been estimated that nearly 60% of moderate to severe OSA is attributable to obesity. The risk of OSA increases as the degree of additional weight increases, with an extremely high prevalence of OSA in people with morbid obesity [3]. Several factors are implicated in the development of OSA [4].

The main cause addresses the reduction of the expansion forces of the dilator muscles of the upper airways. The capacity of the muscles decreases more during the REM sleep. Additional factors are excessive or elongated tissues of the soft palate, macroglossia, tonsillar hypertrophy, and a redundant pharyngeal mucosa [5]. OSA and comorbidities such as stroke, hypertension, metabolic syndrome, cardiovascular diseases or endocrinologic disorders are well taught in years, however the individual effects of apnea or hypopnea alone are never considered. To best of our knowledge, the published data does not mention which entity alone is more harmful to systemic functions or at least sleep, apnea or hypopnea? The Pittsburgh Sleep Quality Index (PSQI) is an effective instrument used to measure the quality of sleep in the adult. It differentiates “poor” from “good” sleep by measuring seven domains: subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, use of sleep medication, and daytime dysfunction over the last month. A global sum of “5” or greater indicates a “poor” sleeper [6]. The Epworth Sleepiness Scale (ESS) is a self-administered questionnaire with 8 questions. Respondents are asked to rate, on a 4-point scale, their usual chances of dozing off or falling asleep while engaged in eight different activities. The higher the ESS score, the higher that person’s daytime sleepiness and scores higher than 10 are significant. In this study, we compared apnea versus hypopnea due to the sleep quality and daytime sleepiness individually.

Materials and Methods

Between July 2017 and January 2019, 327 cases complaining of snoring, daytime sleepiness and witnessed sleep apnea periods were referred to full-night polisomnography. 150 cases were diagnosed as OSA were enrolled in the study. After the final assessment, a total number of 83 participants were chosen. The ethical committee approval was taken from Okmeydani Training and Research Hospital (48670771-514.10) and informed consent are taken from all participants.

   PSG        

3 Channel EEG (F4-M1, C4-M1, O2-M1), 2 channel EOG, chin, right and left tibialis anterior EMG, body position sensor, oro-nasal thermal sensor, nasal pressure sensor, thoracic and abdominal sensors, ECG, pulse-oximetry and synchronous video recordings and breath sound recordings were the parameters recorded through the night. The examination, sleep and wake periods and sleep related disorders were scored according to the criteria of the American Academy of Sleep Medicine [7].

   Clinical Examination and Laboratory Tests    

All participants underwent a detailed otolaryngologic examination including the fiberoptic naso-pharyngolaryngoscopy. Mueller maneuver was made to detect the pharyngeal collapse, vallecula epiglottica was visualized to assess the bulkiness, Friedmann Tongue Positions and Tonsil Gradings are made to determine the glossopharyngeal patency. Complete blood count and routine biochemical blood tests including the thyroid function tests were studied. PSQI and ESS were completed for each participant.

   Study Design    

In order to emphasize the individual effects of apnea or hypopnea, each PSG were examined and if apnea was higher than hypopnea by 50% or vice versa, that participant was included in the study. The study group, therefore, was divided into two as apnea predominant (AP) and hypopnea predominant (HP). Comorbid pulmonary or neurologic disorders, sleep disorders other that OSA (Central sleep apnea, Hypersomnolence, Parasomnias, Circadian rhythm disorders, etc.) were excluded. Also, pediatric population were not included in the study.

   Statistical Analysis    

A statistical analysis was performed using IBM SPSS Statistics 22 (IBM SPSS, Turkey). Continuous data was displayed as the mean ± standard deviation. Statistical significance was a p-value of greater than 0.05. A Shapiro–Wilk test showed the normal distribution of the parameters. ANOVA test was used to compare the normally distributed inter-group comparisons of the descriptive statistical methods (mean, standard deviation, and frequency) and the quantitative data.

Results

A total number of 83 participants aged between 24-64 years (mean 46±10 years) were studied. 61 were male (73.49%) and 22 were female (26.51%). The inter-group characteristics are shown in Table 1. The PSQI between AP and HP groups were not statistically significant (p=0.205). Similarly, ESS between AP and HP groups were also not statistically significant (p=0.240) (Figure 1).

Figure 1:   AP versus HP by means of PSQI and ESS.

Table 1:   Subject characteristics and statistical comparisons.

ANOVA test showed no statistical significance among variances.

OSA is defined as the reduction or cessation of airflow for at least ten seconds. The entity is almost every time in association with snoring, and between the snores, airflow may stop completely (apnea) or reduction in the airflow (hypopnea) may happen. If there is a body effort to breathe, the disease is termed obstructive, otherwise it is central. In the presence of a collapsible airway, sleepinduced loss of tonic input to the upper airway dilator muscle motor neurons allows the pharyngeal airway to collapse [8]. The general reaction to this airway obstruction is arousal; sleep then resumes, leading to repeated cycling of sleep, intermittent hypoxia, and arousal throughout the night. Neurocognitive effects of OSA include daytime sleepiness and impaired memory and concentration; cognitive impairment and neural injury may develop in association with sleep apnea [9,10]. Sleep-disordered breathing and OSA are not reported frequently in animals but a natural animal model

Discussion

OSA is defined as the reduction or cessation of airflow for at least ten seconds. The entity is almost every time in association with snoring, and between the snores, airflow may stop completely (apnea) or reduction in the airflow (hypopnea) may happen. If there is a body effort to breathe, the disease is termed obstructive, otherwise it is central. In the presence of a collapsible airway, sleepinduced loss of tonic input to the upper airway dilator muscle motor neurons allows the pharyngeal airway to collapse [8]. The general reaction to this airway obstruction is arousal; sleep then resumes, leading to repeated cycling of sleep, intermittent hypoxia, and arousal throughout the night. Neurocognitive effects of OSA include daytime sleepiness and impaired memory and concentration; cognitive impairment and neural injury may develop in association with sleep apnea [9,10]. Sleep-disordered breathing and OSA are not reported frequently in animals but a natural animal model of OSA is English bulldogs, which have been used to study upper airway anatomy and physiology and the pharmacologic treatment of OSA. English bulldogs have an enlarged soft palate and narrow oropharynx and display many of the clinical features of OSA, including snoring, sleep-disordered breathing, oxyhemoglobin desaturation during sleep, frequent arousal from sleep, and hypersomnolence with shortened sleep latencies [11]. OSA in English bulldogs is not related to obesity, as it often is in humans. OSA has been modeled in a variety of species by using surgical tracheostomy and subsequent intermittent occlusion of the endotracheal tube [12]. Schoorlemmer et al. [13] produced obstructive apnea in conscious rats by using an inflatable balloon implanted in the trachea and apneic episodes of as long as 16 s in duration could be created during sleep. However, animal models of intermittent hypoxemia have several drawbacks. In many cases, the models mimic severe human OSA and may be less applicable to most clinical OSA. In addition, animals exposed to intermittent hypoxemia develop hypocapnia, whereas human OSA is characterized by hypercapnia. Furthermore, human OSA typically is associated with obesity, which is not always considered in animal studies. In addition, OSA causes sleep fragmentation, which may have independent effects on metabolism. Thus, exposure of animals to intermittent hypoxemia produces repeated arousals and changes in sleep architecture that are comparable to those in clinical OSA, yet the effects may not be persistent, limiting their use for studying long-term metabolic consequences of OSA [14].

Animal models are troublesome to study the long-term effects of sleep fragmentation. The sleep quality is a bio-psycho-social parameter that may never be evaluated in animal models; for example, as we refer to excessive daytime sleepiness, the subject is asked whether the sleepiness occurs in the passive state such as resting periods or during the active periods such as work-time or social interactions. Moreover, the sleep architecture, ultradian rhythm or sleep quality may not be assessed in animal models. In our study, the effects of apnea or hypopnea on sleep quality or daytime sleepiness did not differ. This might have several reasons; first of all, all PSG were done elsewhere, our otolaryngology clinic is not capable to perform full-night attended PSG. This situation has some major drawbacks; it is impossible to mark each breath disorders epoch by epoch on the screen of the test computer, but we rather have a brief report of the night. This makes it impossible to calculate the duration of the respiratory events. Therefore, we only could compare the nature of the events by their scores or numbers (Table 1). Secondly, there are some other factors that may interfere with the sleep architecture such as drops in the oxygen levels; not every subject has the same decreasement in their oxyhemoglobine when they have the same level and duration of airway collapse. Thirdly, limb movements also disrupt the sleep quality and impede normal daytime cognitive functions. Finally, arousals are another issue to study; if OSA is recently developed in the subject, the peripheric chemoreceptors detecting the airflow cessation are more sensitive and arousal happens imminently, if the disease is longer the receptors may become insensitive that happens in sleep continuity despite the airflow cessation. Nonetheless, to best of our knowledge, there is no other study that tried to investigate the effects of apnea of hypopnea individually on sleep quality or daytime sleepiness.

Conclusion

The effects of apnea and hypopnea are similar on sleep quality or daytime sleepiness, however further studies also investigating the duration of the events as well are needed.

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