Multisystem Langerhans Cell Histiocytosis in an infant.

Langerhans cell histiocytosis (LCH) is a rare enigmatic disease that pre-dominantly affects children under 5 years of age. We report an interesting case of a 5 month old female diagnosed with multisystem LCH. Her disease process included osseous, pulmonary, gastrointestinal, cutaneous, hematopoietic and neurologic involvement. This case highlights the varying clinical symptoms, risk factors, pathogenesis, and management of multisystem LCH. This case also emphasizes the role of diagnostic imaging in this multifaceted disease.

Nutcracker syndrome in adolescent with perineal pain: An interesting case of an adolescent with perineal pain due to pelvic congestion from nutcracker syndrome with relief after balloon venoplasty and sclerotherapy.

Nutcracker phenomenon is the descriptor for a patient's anatomy whenever the left renal vein becomes compressed between the abdominal aorta and the superior mesenteric artery. Nutcracker syndrome is the terminology used when the nutcracker phenomenon is accompanied by symptoms including pain (abdominal, flank, pelvic), hematuria, and orthostatic proteinuria. Diagnosis can be made with Doppler ultrasound, venography, computed tomography, or magnetic resonance imaging. This case demonstrates some of the typical findings of nutcracker syndrome. The limited clinical features and interesting imaging findings, in addition to the young age of the patient, make this a notable case.

Effectiveness of prediabetes nutrition shared medical appointments: prevention of diabetes.

PURPOSE: The purpose of this study is to evaluate the effectiveness of a nutrition-based shared medical appointment (SMA) intervention in the treatment of prediabetes compared to the individualized counseling standard of care. METHODS: A randomized controlled trial design comparing health outcomes in patients with prediabetes attending either an individualized counseling (control group) or three 90-minute nutrition SMA (intervention group) sessions. Demographic, anthropometric (weight and body mass index), clinical (blood pressure), and biochemical (lipid profile, fasting blood sugar, glycated hemoglobin, albumin-to-creatinine ratio) measures were obtained from all participants at baseline, at 3 months, and at 1 year. RESULTS: Ninety-four participants were randomized into the 2 study groups with a 69% completion rate at 1 year (n = 34 SMA, n = 31 control). The average participant was Caucasian (64%), male (54%), 58.3 ± 9.6 years, had a BMI of 30.8 ± 4.9 kg/m(2) (obese), and fasting blood glucose of 109 ± 9.5 mg/dL. The SMA and control participants lost a mean of 6.6 pounds and 3.6 pound, respectively; neither group met the 5% modest weight loss expected. The SMA and control group experienced a mean drop in fasting blood glucose of 6 mg/dL. CONCLUSIONS: As demands on health care providers continue to rise, finding innovative ways to manage the patient load while providing quality health care is increasingly important. SMA health outcomes were equivalent to individual counseling outcomes, while increasing the provider's productivity by treating 6 to 8 people with prediabetes in 90 minutes compared to 1 patient in 60 minutes.

Characterization of Nfatc1 regulation identifies an enhancer required for gene expression that is specific to pro-valve endocardial cells in the developing heart.

Nfatc1 is an endocardial transcription factor required for development of cardiac valves. Herein, we describe identification and characterization of a tissue-specific enhancer in the first intron of murine Nfatc1 that activates a heterogenic promoter and directs gene expression in a subpopulation of endocardial cells of the developing heart: the pro-valve endocardial cells. This enhancer activity begins on embryonic day (E) 8.5 in endocardial cells at the ventricular end of the atrioventricular canal, intensifies and extends from E9.5 to E11.5 in endocardium along the atrioventricular canal and outflow tract. By E12.5, the enhancer activity is accentuated in endocardial cells of forming valves. Sequential deletion analysis identified that a 250 bp DNA fragment at the 3' end of the intron 1 is required for endocardial-specific activity. This region contains two short conserved sequences hosting a cluster of binding sites for transcription factors, including Nfat and Hox proteins. Electrophoresis mobility shift and chromatin immunoprecipitation assays demonstrated binding of Nfatc1 to the Nfat sites, and inactivation of Nfatc1 downregulated the enhancer activity in pro-valve endocardial cells. By contrast, mutation of the Hox site abolished its specificity, allowing gene expression in non pro-valve endocardium and extracardiac vasculature. Thus, autoregulation of Nfatc1 is required for maintaining high Nfatc1 expression in pro-valve endocardial cells, while suppression through the Hox site prevents its expression outside pro-valve endocardial cells during valve development. Our data demonstrate the first autonomous cell-specific enhancer for pro-valve endocardial cells and delineate a unique transcriptional mechanism that regulates endocardial Nfatc1 expression within developing cardiac valves.