Clinical Spectrum of Adrenal Cushing's Syndrome and the Caution for Interpretation of Adrenocorticotrophic Hormone: A Single-Center Experience.

To describe the differences in presentation, biochemistry, and radiological evaluation of various etiologies of adrenal Cushing's syndrome (CS) from a single center. To emphasize caution for interpretation of plasma adrenocorticotropic hormone (ACTH), as a spuriously unsuppressed ACTH level by immunometric assay may lead to therapeutic misadventures in adrenal CS. DESIGN: Retrospective, single-center, observational study. METHODS: Fifty-eight adrenal CS patients [Adrenocortical carcinoma (ACC), n=30; Adenoma (ACA), n=15; Primary pigmented nodular adrenocortical disease (PPNAD), n=10; ACTH independent macronodular adrenal hyperplasia (AIMAH), n=3) evaluated at a tertiary care center in western India between January 2006 to March 2020 were included. Data on demography, clinical evaluation, biochemistry, imaging, management, histopathology, and outcome were recorded in a standard format and analyzed. RESULTS: Cortisol secreting ACC presented at 38(1-50) years with abdominal mass in 26/30 (86.7%) and 16/30 (53.3%) had metastases at presentation. ACA with autonomous cortisol excess presented at 25(4.9-40) years with discriminating features of CS in 14/15 (93.3%), sex steroid production in 2/15, unenhanced HU <10 in only one, and relative washout >40% in 8/11 (72.7%). One ACA and eight ACC patients had plasma ACTH (by Siemens Immulite assay) > 20 pg/ml, despite hypercortisolemic state. CONCLUSIONS: Cortisol-secreting ACC and ACA most often present with mass effects and florid CS, respectively. Baseline HU has low sensitivity to differentiate cortisol-secreting ACA from ACC. Plasma ACTH measured by Seimens Immulite is often unsuppressed, especially in ACC patients, which can be addressed by measuring ACTH by more accurate assays.

Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western India.

The study aimed to analyze clinical and hormonal phenotype,and genotype in patients with genetically proven androgen insensitivity syndrome (AIS) from Western India. Index patients with pathogenic variants in the androgen receptor (AR) gene were identified from a consecutive 46,XY DSD cohort (n = 150) evaluated with clinical exome sequencing, and their genetically-proven affected relatives were also included. In sum, 15 index cases (9 complete AIS [CAIS] and 6 partial AIS [PAIS]) were identified making AIS the second most common (10%) cause of 46,XY DSD, next to 5α-reductase 2 deficiency (n = 26; 17.3%). Most patients presented late in the postpubertal period with primary amenorrhoea in CAIS (89%) and atypical genitalia with gynecomastia in PAIS (71.4%). All CAIS were reared as females and 83.3% of PAIS as males with no gender dysphoria. Four of 6 patients with available testosterone to dihydrotestosterone ratio had a false elevation (>10). Metastatic dysgerminoma was seen in 1 patient in CAIS, while none in the PAIS group had malignancy. Fifteen different (including 6 novel) pathogenic/likely pathogenic variants in AR were found. Nonsense and frameshift variants exclusively led to CAIS phenotype, whereas missense variants led to variable phenotypes. In this largest, monocentric study from the Asian Indian subcontinent, AIS was the second most common cause of 46,XY DSD with similar phenotype but later presentation when compared to cases in the rest of the world. The study reports 6 novel pathogenic variants in AR.

Current Status of Diagnosis and Management for Functioning Pituitary Tumors: Part I.

Pituitary adenomas (PA) account for approximately 15% of all intracranial neoplasms. Pituitary adenomas can be of different subtypes based on the cell of origin or associated hormone hypersecretion (non-functioning pituitary adenoma, prolactinoma, somatotropinoma, corticotropinoma, thyrotropinoma, and gonadotropinoma). Functioning PAs are associated with relatively higher morbidity and mortality because of associated hormone hypersecretion syndromes. Diagnosis of functioning PA is established by biochemical confirmation of hormone hypersecretion and demonstration of a pituitary lesion on imaging. Trans-sphenoidal surgical resection of tumor represents the first-line treatment for most tumor types, except for prolactinomas where medical therapy with dopamine agonists is preferred. Radiotherapy (RT) and medical therapy are the other options for the management of PA. It is important to individualize treatment options based on tumor type, patient's clinical condition, expertise of surgeon, affordability and patient preferences. In the first part of this series, we review the presentation and management of adrenocorticotropic hormone secreting, gonadotropin secreting and aggressive PA. Despite several recent advances, the diagnosis and management of Cushing's disease is still a challenge. Modifications in magnetic resonance imaging techniques like volume interpolated 3D spoiled gradient echo sequence have improved the sensitivity to detect microcorticotropinomas. Pituitary RT, preferably conventional RT, is a useful second-line therapy for the management of CD. Besides the conventional drugs, few drugs such as pasireotide and osilodrostat have been approved by US FDA recently, whereas several others are in pipeline which provide hope for a better outcome in CD patients. Temozolomide is a useful drug for the management of aggressive PA.

Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.

OBJECTIVE: To evaluate the pathogenic role of a few benign variants and hypomorphic pathogenic variants in SRD5A2. DESIGN AND METHODS: We retrospectively analyzed phenotypes and genotypes in 23 Indian patients with genetically proven steroid 5α-reductase 2 (SRD5A2) deficiency. The interactions of the SRD5A2 enzymes resulting due to the most common benign variant (p.Val89Leu), the most common (hypomorphic) pathogenic variant (p.Arg246Gln) and the double variants (p.Val89Leu and p.Arg246Gln) in SRD5A2 were compared with that of the wild type (WT) enzyme by molecular dynamics (MD) simulation. RESULTS: The majority (n = 19, 82.61%) of patients presented for atypical genitalia and had male gender identity (16/20). Including the two novel ones (p.Leu83Pro, p.Ala28Leufs*103), a total of nine different pathogenic variants were observed. p.Arg246Gln was the most common pathogenic variant (n = 12). Homozygous p.Arg246Gln (n = 9) variant was associated with milder undervirilization (Sinnecker score of ≤3a: 8/9 vs 6/14, P = 0.04) and had concurrent homozygous p.Val89Leu in all patients. Interestingly, asymptomatic fathers of two index patients were homozygous for p.Arg246Gln which questioned the pathogenicity of the variation as a sole factor. Unlike all symptomatic homozygous p.Arg246Gln patients who were also homozygous for p.Val89Leu, asymptomatic homozygous p.Arg246Gln fathers were heterozygous for p.Val89Leu. On MD simulation SRD5A2 p.Val89Leu-Testeosterone (T) and SRD5A2 p.Arg246Gln-T complexes, but not SRD5A2 p.Val89Leu and p.Arg246Gln-T complex, demonstrated close interaction between NADPH and T as that of SRD5A2 WT-T. CONCLUSIONS: p.Arg246Gln may not be pathogenic as a sole variation even in the homozygous state; additional contribution of homozygous p.Val89Leu variant may be essential for the pathogenicity of p.Arg246Gln in SRD5A2.

Sellar surprises: a single-centre experience of unusual sellar masses.

BACKGROUND: Most common incidentally detected sellar-suprasellar region (SSR) masses are pituitary adenomas, followed by craniopharyngioma, rathke's cleft cyst, hypophysitis, and meningioma. Besides these, certain unusual SSR lesions can sometimes present as diagnostic challenges, where diagnosis is often made post-operatively on histopathology, the pre-operative suspicion of which might have influenced the management strategies. Series describing such masses are few. OBJECTIVE: To present clinical, biochemical, and radiological characteristics and management outcomes of rare SSR lesions other than pituitary adenomas, craniopharyngioma, rathke's cleft cyst, hypophysitis, and meningioma. DESIGN, SETTING, PATIENTS: Retrospective case record analysis of patients with uncommon SSR masses (from January 2006 to December 2016). RESULTS: Our series consisted of ten patients, five with neoplastic and five with non-neoplastic lesions. Neoplastic masses included granular cell tumor (n = 2), astrocytoma (n = 1), malignant peripheral nerve sheath tumor (MPNST, n = 1), and metastasis from occult papillary carcinoma of thyroid (n = 1), while non-neoplastic masses were aspergillus abscess (n = 1), sterile abscess (n = 1), and tubercular abscess (n = 1), aneurysm of left internal carotid artery (n = 1), and ruptured dermoid cyst (n = 1). All patients (except one) presented with headache and/or visual disturbance. Only one patient had acromegaly while most others had hypopituitarism. We describe detailed MRI characteristics of each of the lesion. Seven patients underwent trans-sphenoidal surgery. Post-operatively, five patients had permanent diabetes insipidus, while two patients died in early post-operative period. CONCLUSION: Our series expand the differential diagnostic considerations of SSR lesions. Most of the rare SSR masses present with symptoms of mass effects and hypopituitarism. Except for some non-neoplastic lesions like sellar abscesses, aneurysms, and dermoid cysts which can have some specific imaging characteristics that can provide clue to pre-operative diagnosis, most of the other neoplastic masses have overlapping radiological features, and pre-operative suspicion remains difficult.

Cabergoline may act as a radioprotective agent in Cushing's disease.

CONTEXT: Conventional fractionated radiotherapy (CRT) achieves control of pathological hypercortisolism in 75%-80% of patients with persistent or recurrent Cushing's disease (CD), over a mean period of 18-24 months. Medical therapy is recommended as bridge therapy while awaiting RT effect. OBJECTIVE: To determine long-term outcome of CRT and its predictors in CD patients. DESIGN, SETTING AND PATIENTS: This is a retrospective case record analysis of 42 patients with CD who received CRT as a treatment modality and had at least 12 months post-RT follow-up. The dose delivered was 45 Gy in 25 fractions over 5 weeks. Demographic details, hormonal evaluation and radiological data were extracted from case records. Dexamethasone suppressed cortisol at cut-off of 1.8 µg/dL was used to define remission or recurrence. Possible predictors for remission and recurrence were analysed. RESULTS: The mean age at the time of CRT administration was 23.7 ± 10.7 (range: 12-48) years. A total of 29 (69%) patients achieved remission 26.5 ± 28.5 (median: 18, range: 3-120) months after RT, while 13 (31%) patients had persistent disease at last follow-up. There were no significant predictors of disease remission after CRT. Six (20.7%) patients had recurrence after a documented initial remission. Recurrence occurred 66.6 ± 25.9 (median: 74; range: 18 to 90) months after documented remission. Recurrence of the disease was exclusively seen in patients who received peri-RT cabergoline. Peri-CRT use of cabergoline was significantly associated with increased recurrence rates (P = .016). CONCLUSION: Use of cabergoline in the peri-CRT period did not affect initial remission after CRT but was associated with increased recurrence after initial remission in CD.

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome (CS) in childhood. We describe a case series of patients presenting at our centre along with a review of the literature. Methods A retrospective analysis of six index cases and one family were done for demographic features, hormonal profile, imaging findings, genetic mutation status, histopathologic findings and follow-up details. Diagnosis was based on biochemistry and confirmed with histopathology and or genetic mutation. All patients had suppressed 8 am adrenocorticotropic hormone (ACTH) (<10 pg/mL) despite evidence of hypercortisolism. Results The mean age in our cohort was 8.2 years (range 15 months to 20 years). All patients presented with overt CS, including one patient with cyclic Cushing's. Three patients had additional features of Carney complex (CNC). Imaging did not reveal any obvious mass lesions on computed tomography (CT), the classical beaded appearance was present in only two of the patients. Mutation analysis was positive in three patients. Five patients underwent bilateral adrenalectomy and had features of PPNAD on histopathology. Conclusions PPNAD is a rare cause of ACTH-independent CS in childhood and may signal underlying CNC. Patients with younger age of onset with overt CS may still have a mutation in the PRKAR1A gene and warrant genetic testing.

Clinical and Etiological Profile of Fever with Thrombocytopenia - A Tertiary Care Hospital Based Study.

Objectives: Febrile thrombocytopenia is a condition commonly caused by infections. The present study is intended to know the underlying etiology of fever with thrombocytopenia, the various presentations and complications in our community. Material and Methods: A cross-sectional epidemiological study was conducted including 1217 patients aged more than 14 years with fever and thrombocytopenia admitted in the medical wards from October 2013 to September 2014. Detailed clinical examination and routine investigations were done; specific investigations like blood culture, widal test, antigen test for malaria, IgM ELISA leptospira, IgM ELISA dengue, bone marrow aspiration/biopsy etc. were done as and when indicated. The data are presented as percentage and numbers. Rates and ratios are computed. Results: Infection was the commonest cause of thrombocytopenia and dengue was the commonest of the infections followed by malaria. Bleeding manifestations were seen in 42.7% of patients. 91.40% of patients with bleeding tendencies had petechiae/purpura as the commonest bleeding manifestation, followed by spontaneous bleeding in 57%. Spontaneous bleeding was noted when platelet counts were less than 20,000. Petechiae/Purpura were seen more commonly when platelet count was in the range of less than or equal to 50,000. Good recovery was noted in 95%, while 5% had mortality. Septicemia accounted for 85.24% of deaths followed by malaria (6.55%) and dengue (5%). Conclusion: Fever with thrombocytopenia is an important clinical condition commonly caused by infections, particularly dengue and malaria. In majority of patients thrombocytopenia was transient and asymptomatic, but in significant number of cases there were bleeding manifestations. On treating the specific cause drastic improvement in platelet count was noted. Mortality in febrile thrombocytopenia is not directly associated with degree of thrombocytopenia but with concomitant involvement of other organs leading to multiorgan dysfunction.

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

OBJECTIVE: To study genotype-phenotype spectrum of triple A syndrome (TAS). METHODS: Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8) and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications). RESULTS: Median age at presentation was 4.75 years (range: 4-10) and 5 years (range: 1-42) for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI), achalasia and neurological dysfunction (ND) were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC) was uncommon (absent in cohort 1, 12.5% in cohort 2). In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45) was commonest, followed by a deletion in exon 8 (p.S255Vfs*36). Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations) as compared to NT (non-truncating mutations) group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. CONCLUSION: Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research.

Duration of post-operative hypocortisolism predicts sustained remission after pituitary surgery for Cushing's disease.

PURPOSE: Transsphenoidal surgery (TSS) is the primary treatment modality for Cushing's disease (CD). However, the predictors of post-operative remission and recurrence remain debatable. Thus, we studied the post-operative remission and long-term recurrence rates, as well as their respective predictive factors. METHODS: A retrospective analysis of case records of 230 CD patients who underwent primary microscopic TSS at our tertiary care referral centre between 1987 and 2015 was undertaken. Demographic features, pre- and post-operative hormonal values, MRI findings, histopathological features and follow-up data were recorded. Remission and recurrence rates as well as their respective predictive factors were studied. RESULTS: Overall, the post-operative remission rate was 65.6% (early remission 46%; delayed remission 19.6%), while the recurrence rate was 41% at mean follow-up of 74 ± 61.1 months (12-270 months). Significantly higher early remission rates were observed in patients with microadenoma vs macroadenoma (51.7% vs 30.6%, P = 0.005) and those with unequivocal vs equivocal MRI for microadenoma (55.8% vs 38.5%, P = 0.007). Patients with invasive macroadenoma had poorer (4.5% vs 45%, P = 0.001) remission rates. Recurrence rates were higher in patients with delayed remission than those with early remission (61.5% vs 30.8%, P = 0.001). Duration of post-operative hypocortisolemia ≥13 months predicted sustained remission with 100% specificity and 46.4% sensitivity. Recurrence could be detected significantly earlier (27.7 vs 69.2 months, P < 0.001) in patients with available serial follow-up biochemistry as compared to those with infrequent follow-up after remission. CONCLUSION: In our study, remission and recurrence rates were similar to that of reported literature, but proportion of delayed remission was relatively higher. Negative/equivocal MRI findings and presence of macroadenoma, especially those with cavernous sinus invasion were predictors of poor remission rates. In addition to early remission, longer duration of post-operative hypocortisolism is an important predictor of sustained remission. Regular biochemical surveillance may help in identifying recurrence early.

HLA-B27-associated bilateral Ménière disease.

We describe 2 cases of bilateral Ménière disease with features resembling autoimmune inner ear disease in patients who were found to be carriers of human leukocyte antigen (HLA) B27. For immunohistochemical analysis, mouse inner ear sections were used as the tissue substrate for reaction with serum. Both patients demonstrated an increased immunofluorescence reaction compared with a normal control. We suggest that an antibody-mediated mechanism may be responsible for HLA-B27-associated Ménière disease.

Endoscopic posterior costal cartilage graft placement for acute management of pediatric bilateral vocal fold paralysis without tracheostomy.

Endoscopic posterior cricoid split with costal cartilage graft stabilization has previously been shont to allow for glottic/infraglottic expansion in children with long standing vocal fold paralysis. We report on an extension of this technique to use in the acute setting in the management of acute BVP in children with acute upper airway obstructive symptoms.

Aspiration following CO(2) laser-assisted supraglottoplasty.

OBJECTIVE: To review the incidence, risk factors, and treatment of aspiration following CO(2) laser-assisted supraglottoplasty for severe laryngomalacia (LM). DESIGN: IRB approved retrospective study of pediatric patients with severe LM treated with CO(2) laser supraglottoplasty over a 5-year period. SETTING: Tertiary pediatric hospital. PATIENTS: Fifty-two patients met inclusion criteria. Indication for supraglottoplasty was respiratory distress in 90% of patients and/or failure to thrive in 19%. INTERVENTIONS: All children underwent bilateral CO(2) laser supraglottoplasty and were assessed postoperatively with swallow evaluation by a speech pathologist. Videoflouroscopic evaluation was utilized to confirm aspiration and guide management. MAIN OUTCOME MEASURES: Aspiration, treatment required to manage aspiration, duration of treatment required. RESULTS: Thirty-seven percent (20/52) of patients had postoperative aspiration. Aspiration was demonstrated on videoflouroscopic swallow study (VFSS) after supraglottoplasty is 28% (12/43). All patients with newly diagnosed aspiration had treatment with thickened and/or nasogastric feedings with mean resolution time of 6 months. In nine children with preoperative aspiration, eight (89%) had postoperative aspiration and seven required gastrostomy tube placement for feeding management. All individuals requiring gastrostomy for aspiration management had neurological conditions. In the absence of preoperative clinically evident aspiration, children with neurological conditions have an equivalent rate of postoperative aspiration as healthy children. The only risk factor for postoperative aspiration was preoperative aspiration. CONCLUSION: Aspiration is more common after CO(2) laser-assisted supraglottoplasty than previously recognized. In otherwise healthy children, postoperative aspiration is of short duration and can be treated with conservative measures. Optimal treatment after supraglottoplasty includes screening for and management of aspiration in conjunction with a speech pathologist.

Chronic rhinosinusitis and asthma.

Based on considerations of the underlying epidemiology, pathophysiology, histopathology, clinical relationships and treatment outcomes, the links between rhinosinusitis and asthma become evident supporting the unified airway concept.

Patient compliance to radiation for advanced head and neck cancer at a tertiary care county hospital.

BACKGROUND: Combined chemotherapy and radiotherapy are routinely used to treat advanced-stage head and neck squamous cell carcinoma (HNSCC). Patient compliance is often difficult given increased toxicities. Medically underserved or uninsured patients may lack the necessary support to complete such treatment. OBJECTIVE: To evaluate compliance to radiation therapy for patients with advanced stage HNSCC at an urban tertiary-care county hospital. STUDY DESIGN: Retrospective review. METHODS: Data were extracted from the charts of 136 consecutive patients who had been advised to undergo chemoradiotherapy for newly diagnosed HNSCC from 2004 to 2006. Demographic and tumor-related information was collected, as was patient compliance with radiation treatment. Total dose, length of treatment, and theoretical "loss of loco-regional control" was calculated. Benchmark compliance data were obtained from select publications. RESULTS: Of 136 patients, 55 did not begin treatment or transferred care elsewhere, leaving 81 study patients. Twenty-eight patients (35%) had unacceptable overall treatment courses. Forty-eight patients (59%) received less than the effective dose of 65 Gy after accounting for missed treatment days. Fifty-one patients (63%) had a greater than 10% calculated loss in loco-regional control. Univariate and multivariate analysis yielded no predictive value for gender, ethnicity, node status, stage, or primary site on compliance. CONCLUSION: Compared with other institutions, HNSCC patients in this setting are less likely to complete a prescribed therapeutic regimen. Patient and tumor characteristics measured in this study do not predict compliance. Organ preservation protocols require further evaluation in populations where compliance is suspect. Future research must examine interventions to improve compliance and assessment of its impact on survival.

A study of middle cranial fossa anatomy and anatomic variations.

We conducted a study to establish standardized measurements of the common anatomic landmarks used during surgery via the middle cranial fossa approach. Results were based on high-resolution computed tomography (CT) images of 98 temporal bones in 54 consecutively presenting patients. Measurements were obtained with the assistance of the standard PACS (picture archiving and communication system) software. We found that the superior semicircular canal (SSC) dome was not the highest point on the temporal bone (i.e., the arcuate eminence) in 78 of the temporal bone images (79.6%). Pneumatization above the SSC and above the internal auditory canal (IAC) was found in 27 (27.6%) and 39 (39.8%) temporal bone images, respectively. The anterior wall of the external auditory canal was always anterior to the anterior wall of the IAC. The mean angles between the SSC and the posterior and anterior walls of the IAC were 42.3 degrees and 60.8 degrees, respectively. We also measured other distances, and we compared our findings with those published by others. We hope that the results of our study will help surgeons safely and rapidly locate anatomic landmarks when performing surgery via the middle cranial fossa approach.

Radiation necrosis of the brain after radiosurgery for vestibular schwannoma.

OBJECTIVE: The objective of this study was to obtain a better understanding of radiation-induced brain necrosis after stereotactic radiation therapy for vestibular schwannomas. STUDY DESIGN: We conducted a retrospective case analysis. SETTING: The study took place at a tertiary referral center. PATIENTS: We report on the case of a patient treated with stereotactic radiation who developed radiation-induced necrosis of the ipsilateral temporal lobe. INTERVENTION: The various interventions in patients with radiation-induced necrosis include steroid treatment, decompression, and hyperbaric oxygen therapy; these are discussed briefly in this article. Owing to the limited symptoms in our patient, she was observed. MAIN OUTCOME MEASURE: The outcome measure that we evaluated was radiation-induced necrosis of the brain after stereotactic radiation therapy for a vestibular schwannoma. RESULTS: Patients who undergo stereotactic radiation therapy for vestibular schwannomas are at risk for radiation-induced brain necrosis. CONCLUSION: We support the development of a national database that would track the long-term complications of stereotactic radiation therapy to help patients make a more informed decision for the treatment of their vestibular schwannomas.

Airway involvement and obstruction from granulomas in African-American patients with sarcoidosis.

Sarcoidosis is a global disorder whose breadth of organ involvement can often be underappreciated. Head and neck manifestations include involvement of the skin, salivary glands, sinonasal cavity, and larynx. Of cases of upper airway sarcoidosis, laryngeal sarcoidosis and airway compromise portend a greater risk of fatal outcomes. People representing all racial groups have been diagnosed with sarcoidosis. Although many studies have evaluated incidence and manifestations of sarcoidosis in multiple ethnicities, few studies have explored racial predilection for laryngeal involvement. However, assertions that disease severity and poor outcome may be tied to the African diaspora as well as related socio-economic and cultural realities have been recognized. We present our case series of six African-American patients diagnosed with sarcoidosis and presented with complaints of voice change and increased shortness of breath. Four of them required expeditious, surgical management of the airway. Two had limited supraglottic involvement and have avoided tracheotomy with aggressive and timely pharmacotherapeutic intervention and close clinical surveillance. Early recognition of laryngeal manifestations of sarcoidosis and airway compromise is essential to provide patients with conservative management without the need for aggressive surgical intervention.

Diagnostic studies in obstructive sleep apnea.

The standard for the diagnosis of obstructive sleep apnea (OSA) is polysomnography (PSG). Although PSG helps identify individuals who have OSA and guides medical management, it does not identify the obstruction site or predict surgical results. Radiologic and diagnostic studies have been used to direct surgical intervention and predict outcomes of sleep apnea surgery. These studies include lateral cephalometric radiographs, CT, MRI, asleep fluoroscopy, asleep and awake endoscopy, upper airway manometry, and acoustic reflection techniques. The ideal diagnostic study would identify individuals who have OSA, be cost-effective and readily accessible, and guide therapeutic, site-specific intervention with predictable results. In this article, the various modalities are reviewed in terms of their capability to effectively diagnose and guide treatment of OSA.