Isolated left ventricular assist device implantation produces variable changes to patient body mass index.

BACKGROUND: Body mass index (BMI) is an important consideration for transplant-eligible left ventricular assist device (LVAD) recipients. LVAD therapy's impact on BMI is unclear. We evaluated BMI changes in patients who underwent LVAD implantation. The association between these patients' BMI and the transplant was studied. METHODS: This was a retrospective cohort study of patients who underwent LVAD implantation between January 1, 2012 and December 31, 2018 at our institution. Patients were stratified by preoperative BMI (kg/m2 ) into four groups: <30, 30-34.9, 34.9-39.9, and ≥40. BMI data were collected at 12 and 6 months prior to implantation, time of implantation, and 3- and 6- months postimplantation. RESULTS: A total of 107 patients underwent LVAD implantation at our institution. Data were available for 80 patients. Baseline characteristics included a mean age of 56.0 years, 69% male, and a mean implant BMI of 29.9 ± 6.8 kg/m2 . The mean BMI (kg/m2 ) for each of the BMI (kg/m2 ) groups <30, 30-34.9, 35-39.9, and ≥40 (n = 60, 25, 12, and 10, respectively) was 25.1, 32.5, 36.8, and 43.8, respectively. There was no consistent pattern with weight change across differing implant BMIs. No patient with a BMI of <30 gained sufficient weight to impact transplant candidacy. Twenty-three percent of patients with a BMI of 30-34.9 kg/m2 , 60% of patients with a BMI of 35-39.9 kg/m2 , and 87.5% of patients with a BMI of ≥40 kg/m2 had a 6-month BMI potentially affecting transplant. CONCLUSIONS: Associated weight changes during LVAD support may significantly impact transplant candidacy. Higher BMI groups may benefit from multimodal and multidisciplinary targeted weight-loss interventions.

Celiac crisis presenting with status epilepticus and encephalopathy.

UNLABELLED: Celiac crisis is a life-threatening presentation of celiac disease which is described in the context of classic gastrointestinal (GI) symptoms of diarrhea, leading to dehydration and electrolyte imbalance. Neurologic manifestations are atypical symptoms of celiac crisis. To the best of our knowledge, there is no published report on seizure or encephalopathy as the presenting manifestation of celiac crisis. We describe a 2-year-old boy presenting with acute status epilepticus and lethargy. Prior to presentation, he had mild abdominal distention and intermittent diarrhea. Laboratory analysis revealed hyponatremia, anemia, hypocalcemia, transaminitis, and hyperglycemia. Electroencephalography revealed severe diffuse encephalopathy, and complete infectious work-up was negative. Initial brain magnetic resonance imaging was normal; however, repeat imaging showed osmotic demyelination syndrome. Given the history of GI symptoms and hyperglycemia, celiac serology was obtained revealing elevated tissue transglutaminase, and a diagnosis was confirmed by Marsh 3c lesions in the duodenum. He significantly improved with steroid therapy in addition to adequate nutrition, fluids, and initiation of a gluten-free diet. CONCLUSION: We report herein on the first case of celiac crisis presenting with status epilepticus and encephalopathy in the absence of profound GI symptoms. Our case suggests that celiac crisis should be considered in the differential of seizures and encephalopathy in children.

Supporting the right ventricle in postcardiotomy renal dysfunction: A case series.

Postcardiotomy RV dysfunction is an under-recognized cause of acute kidney injury (AKI). Insertion of a percutaneous right ventricular assist device (RVAD) reduces central venous hypertension and congestive nephropathy by augmenting cardiac output. In selected patients, percutaneous RVAD insertion may improve renal function and obviate the need for long-term dialysis.

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia.

Disorders of sex development (DSD), formerly termed "intersex" conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medically complex neonate with DSD presenting with ambiguous genitalia. Hormone levels suggested 21-hydroxylase deficiency. Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. Chromosome analysis revealed sex chromosome mosaicism with three cell lines: 45,X[8]/45,X,tas(Y;16)(p11.32;p13.3)[8]/45,X,t(Y;8)(p11.32;p23.3)[4] with the Y chromosome in telomere association with chromosomes 8p and 16p in different cell lines, a "jumping translocation." Histologically, the right gonad had irregular, distended seminiferous tubules with hyperplastic germ cells contiguous with ovarian stroma and primordial follicles. The left gonad had scant ovarian stroma and embryonic remnants. Chromosome analyses showed mosaicism in both gonads: 45,X[17]/45,X,tas(Y;8)(p11.32;p23.3)[3]. This is the first case of coexisting CAH and 45,X/46,XY mosaicism reported in the English literature and the third case of a constitutional chromosome Y "jumping translocation." Our report documents the medical and genetic complexity of children such as this one with ambiguous genitalia and discusses the need for a multidisciplinary team approach.