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Cecal volvulus is an uncommon cause of acute intestinal obstruction accounting for around 10% of intestinal volvuli. There are three main variants of cecal volvuli including the axial, loop, and bascule types. Diagnosis is confirmed via a computed tomography scan and surgery is the mainstay treatment due to a high risk of morbidity and mortality. Here we report a rare presentation of cecal volvulus in a COVID-19 positive patient that was complicated by an anastomotic leak.

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants but did not identify any recurrently mutated genes. To investigate further the genetics of CDH, we analyzed de novo coding variants in 362 proband-parent trios including 271 new trios reported in this study. We identified four unrelated individuals with damaging de novo variants in MYRF (P = 5.3x10(-8)), including one likely gene-disrupting (LGD) and three deleterious missense (D-mis) variants. Eight additional individuals with de novo LGD or missense variants were identified from our other genetic studies or from the literature. Common phenotypes of MYRF de novo variant carriers include CDH, congenital heart disease and genitourinary abnormalities, suggesting that it represents a novel syndrome. MYRF is a membrane associated transcriptional factor highly expressed in developing diaphragm and is depleted of LGD variants in the general population. All de novo missense variants aggregated in two functional protein domains. Analyzing the transcriptome of patient-derived diaphragm fibroblast cells suggest that disease associated variants abolish the transcription factor activity. Furthermore, we showed that the remaining genes with damaging variants in CDH significantly overlap with genes implicated in other developmental disorders. Gene expression patterns and patient phenotypes support pleiotropic effects of damaging variants in these genes on CDH and other developmental disorders. Finally, functional enrichment analysis implicates the disruption of regulation of gene expression, kinase activities, intra-cellular signaling, and cytoskeleton organization as pathogenic mechanisms in CDH.

Objective To examine outcomes of pediatric thyroidectomy in the context of training background, institution, and experience of the surgeon. Study Design Case series with chart review. Setting A tertiary academic medical center and a pediatric hospital. Subjects and Methods Eighty-one thyroidectomy patients younger than 18 years. Outcomes were major complications (recurrent laryngeal nerve injury, permanent hypocalcemia, and wound infection), length of stay (LOS), and need for repeat surgery. Results Eighty-one patients, 39 from the University of Nebraska Medical Center and 42 from the Children’s Hospital and Medical Center–Omaha, were identified over a 12-year time period. No difference was found in surgeon training (otolaryngology/head and neck surgery vs general/pediatric surgery) for complications (1 vs 1, odds ratio [OR] = 0.76, 95% confidence interval [CI] = [0.05, 13.1]), LOS >1 day (5 vs 13, OR = 0.39, 95% CI = [0.13, 1.24]), or need for second surgery (4 vs 7, OR = 1.47, 95% CI = [0.39, 5.49]). Higher surgeon volume (≥12 surgeries) was found to be significant for decreased need for second surgery (3 vs 8, OR = 6.67, 95% CI = [1.57, 27.17]). Patients of higher-volume surgeons were 4.2 times more likely to stay in the hospital 1 day or less compared with those patients operated on by surgeons with less experience (7 vs 11, 95% CI = [1.59, 15.0]). Conclusions Need for second surgery in pediatric thyroidectomy may be predicted by surgical volume.