Overgrowth Disorders: A Case of Sotos Syndrome and Overview of Related Disorders.

Sotos syndrome is an uncommon congenital overgrowth syndrome characterized by excessive growth in childhood, learning disabilities, and distinct facial features. We present the case of a young male who appeared to have the classic presentation of Sotos syndrome despite a normal genetic workup. Additionally, we present a brief review of overgrowth syndromes in order to highlight potential challenges differentiating these syndromes in clinical practice. Many overgrowth disorders often have similar presentation to Sotos syndrome, so it is important to recognize and identify specific clinical features and perform genetic testing to rule out other disorders, confirm a diagnosis, and choose the appropriate management for patients.

The expanding role of HLA gene tests for predicting drug side effects.

Adverse drug reactions can be either dose-dependent (Type A) or idiosyncratic (Type B). Type B adverse drug reactions tend to be extremely rare and difficult to predict. They are usually immune-mediated. Examples include severe skin reactions and drug-induced liver injury. For many commonly prescribed drugs (such as antibiotics), the risk of developing an idiosyncratic adverse drug reaction is influenced by variability in the human leukocyte antigen (HLA) genes. Because these HLA-mediated adverse drug reactions can be lethal, there is growing interest in defining which specific drug-gene relationships might benefit from pre-emptive HLA genotyping and automated clinical decision support. This review summarizes the literature for HLA-mediated adverse reactions linked to common drugs.

Inflammatory Bowel Disease: A Concise Review.

Inflammatory bowel disease is a term describing a group of diseases, Crohn's disease and ulcerative colitis, that cause chronic inflammation in the gastrointestinal tract. Both conditions tend to have episodic flares of diarrhea, abdominal pain, fatigue, and unintentional weight loss. This analysis will discuss the etiology, pathophysiology, epidemiology, clinical and histologic features, treatment, and complications of Crohn's disease and ulcerative colitis. Though there are many similarities between these two conditions it is important to recognize their differences for accurate diagnosis, treatment, and surveillance for potential long-term complications.

Drug-Induced Liver Injury with Commonly Used Antibiotics in the All of Us Research Program.

Antibiotics are a known cause of idiosyncratic drug-induced liver injury (DILI). According to the Centers for Disease Control and Prevention, the five most commonly prescribed antibiotics in the United States are azithromycin, ciprofloxacin, cephalexin, amoxicillin, and amoxicillin-clavulanate. We quantified the frequency of acute DILI for these common antibiotics in the All of Us Research Program, one of the largest electronic health record (EHR)-linked research cohorts in the United States. Retrospective analyses were conducted applying a standardized phenotyping algorithm to de-identified clinical data available in the All of Us database for 318,598 study participants. Between February 1984 and December 2022, more than 30% of All of Us participants (n = 119,812 individuals) had been exposed to at least 1 of our 5 study drugs. Initial screening identified 591 potential case patients that met our preselected laboratory-based phenotyping criteria. Because DILI is a diagnosis of exclusion, we then used phenome scanning to narrow the case counts by (i) scanning all EHRs to identify all alternative diagnostic explanations for the laboratory abnormalities, and (ii) leveraging International Classification of Disease 9th revision (ICD)-9 and ICD 10th revision (ICD)-10 codes as exclusion criteria to eliminate misclassification. Our final case counts were 30 DILI cases with amoxicillin-clavulanate, 24 cases with azithromycin, 24 cases with ciprofloxacin, 22 cases with amoxicillin alone, and < 20 cases with cephalexin. These findings demonstrate that data from EHR-linked research cohorts can be efficiently mined to identify DILI cases related to the use of common antibiotics.

Thoracic Myelopathy in a Teenager Caused by Stage IV Hodgkin's Lymphoma.

We report the case of a 19-year-old Native American woman who presented with bilateral lower extremity weakness due to spinal cord compression from late-stage Hodgkin's lymphoma. Hodgkin's lymphoma rarely has an initial presentation of spinal cord compression, except in cases of late-stage disease. The patient partially attributed her delayed pursuit of care to the difficulty of scheduling an appointment during the coronavirus (COVID-19) pandemic. The COVID-19 pandemic has impacted access to care and the potential for early detection of disease, as seen in this patient. Additionally, Native Americans on South Dakota Reservations face unique challenges that affect access to healthcare and health outcomes.