Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

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Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

Abstract Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia. Case presentation A 40-year-old man without significant past medical history presented with a new-onset generalized tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination was remarkable for short stature, hypertelorism, prominent forehead and nasal voice. His initial laboratory examination showed hypocalcemia (Calcium 5.2 mg/dl and Calcium ionized 0.69 mmol/l) with hypoparathyroidism (Parathyroid hormone intact Conclusion Microdeletion of chromosome 22q11.2 is among the most clinically variable syndromes, with more than 180 features associated with the deletion. It has a variable phenotypical expression, requiring a high level of awareness for its early diagnosis. Seizures, related to marked hypocalcemia due to idiopathic hypoparathyroidism, might be the presenting feature in an adult patient with this syndrome.</p

Barriers to Accessing Nighttime Supervisors: a National Survey of Internal Medicine Residents

© 2021, Society of General Internal Medicine. Background: Single-center studies have reported residents experience barriers to accessing supervising physicians overnight, but no national dataset has described barriers perceived by residents or the association between supervision models and perceived barriers. Objective: To explore residents’ perception of barriers to accessing overnight supervision. Design: Questions about overnight supervision and barriers to accessing it were included on the American College of Physicians Internal Medicine In-Training Examination® (IM-ITE®) Resident Survey in Fall 2017. Participants: All US-based internal medicine residents who completed the 2017 IM-ITE®. Responses from 20,744 residents (84%) were analyzed. Main Measures: For our main outcome, we calculated percentages of responses for eight barriers and tested for association with the presence or absence of nocturnists. For our secondary outcome, we categorized free-text responses enumerating barriers from all residents into the five Systems Engineering Initiative for Patient Safety (SEIPS) categories to elucidate future areas for study or intervention. Key Results: Internal medicine residents working in hospitals without nocturnists more commonly reported having at least one barrier to accessing a supervising physician “always” or “most of the time” (5075/9842, 51.6%) compared to residents in hospitals with nocturnists (3074/10,902, 28.2%, p \u3c 0.001). Among residents in hospitals without nocturnists, the most frequently reported barrier to accessing attending supervision was attendings not being present in the hospital (30.4% “always” or “most of the time”); residents in hospitals with nocturnists most frequently reported desire to make their own decisions as a barrier to contacting attendings (15.7% “always” or “most of the time”). Free-text responses from residents with and without nocturnists most commonly revealed organization (47%) barriers to accessing supervision; 28% cited person barriers, and 23% cited tools/technology barriers. Conclusions: Presence of nocturnists is associated with fewer reported barriers to contacting supervising physicians overnight. Organizational culture, work schedules, desire for independence, interpersonal interactions, and technology may present important barriers

Clinical Practice Guideline: Evaluation of the Neck Mass in Adults Executive Summary

The American Academy of Otolaryngology-Head and Neck Surgery Foundation has published a supplement to this issue of Otolaryngology-Head and Neck Surgery featuring the "Clinical Practice Guideline: Evaluation of the Neck Mass in Adults." To assist in implementing the guideline recommendations, this article summarizes the rationale, purpose, and key action statements. The 12 recommendations developed emphasize reducing delays in diagnosis of head and neck squamous cell carcinoma; promoting appropriate testing, including imaging, pathologic evaluation, and empiric medical therapies; reducing inappropriate testing; and promoting appropriate physical examination when cancer is suspected