• SOX3 duplication is associated with variable degrees of hypopituitarism and intellectual disability. • To date, a single family with 2 affected brothers has been reported with panhypopituitarism and a neural tube defect in association with Xq26-q27 duplication which encompasses SOX3. Novel Insights • We describe the smallest Xq27.1 duplication encompassing SOX3 associated with congenital hypopituitarism reported to date. • We describe two additional unrelated pedigrees with phenotypes of congenital hypopituitarism and a neural tube defect associated with SOX3 duplication, strengthening the link between SOX3 duplication and neural tube defects. • Identification of SOX3 duplication, readily assessed by array comparative genomic hybridization, should be sought in males with intellectual disability and congenital hypopituitarism with or without midline central nervous system defects.
Background Triple A syndrome is characterized by achalasia, alacrima and adrenal insufficiency with neurological manifestations occurring later in the course of the disease. It occurs due to biallelic mutations in the AAAS gene which codes for the nuclear pore protein ALADIN. A number of other features have been reported over time in this heterogeneous and multisystemic disorder. Unlike other autosomal recessive disorders, triple A syndrome patients show a wide phenotypic variability both among different patients and family members harboring the same mutation(s). A gene-environment interaction has been thought to be a plausible cause. Methods A retrospective analysis of six families and seven patients presenting with triple A syndrome was carried out. The clinical, biochemical and molecular testing data were collected and correlated. The results of treatment and follow-up and genetic counseling of the families were obtained wherever feasible. Results Our cohort consisted mostly of children and displayed a wide phenotypic variability in the presenting symptoms ranging from hypoglycemic seizures at the severe end of the spectrum to insidious hyperpigmentation and delayed development. Neurological and autonomic features were present in a few patients, suggesting requirement of prolonged follow-up for these patients. A significant gap between the onset of symptoms and confirmatory diagnosis was noted, suggesting that a high index of suspicion is required for diagnosing this disorder. Sudden unexplained death was observed in siblings, and early diagnosis and treatment could help in preventing early mortality and improving the quality of life for these patients. Conclusion High index of suspicion for a potentially treatable disorder allows early appropriate intervention.
Journal of Patient-Centered Research and Reviews (JPCRR) is a peer-reviewed scientific journal whose mission is to communicate clinical and bench research findings, with the goal of improving the quality of human health, the care of the individual patient, and the care of populations. www.aurora.org/jpcrr 260 Supplement for patient characteristics, device specifications and indicators of post-THA complication (serum Cr ion, Co ion, C-reactive protein, erythrocyte sedimentation rate). Results: In total, 162 hips and 152 unique patients underwent THA during September 2009-May 2012, with 78 hips subsequently revised during 2012-2015. Patients were of median age 62 years (range: 32-90), nearly all non-Hispanic white (89%) and mostly female (58%). Several variables were significantly associated (P<0.05) with ALTR grade, including occurrence of complication symptoms (eg, pain), patient age, and Co ion concentrations. Revision surgery was the most strongly associated variable with ALTR, with 5 times greater odds of abnormal grade when not undergoing revision (odds ratio: 5.68, 95% confidence interval: 2.69-11.9). Conclusion: Within AHC, patients who underwent THA with the Stryker Rejuvenate hip implant often experienced the complications of ALTR, but revision surgery reduced the ALTR grade.
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