Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced tear secretion. Here, we report on eight new patients (four families) who presented soon after birth with fine scales in the palms and soles and hypohidrosis that was associated with high body temperature. Exome sequencing identified a novel homozygous pathogenic variant in CLDN10 in one family (NM_006984:exon1:c.138G>A:p.W46*) and a previously reported pathogenic founder variant in the other three (NM_006984:exon5:c.653del:P218Lfs*21). The detailed clinical reports of these patients and a review of previously reported patients further delineate the phenotype of this extremely rare disorder.

Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 mutations. The cohort comprises 11 new and unpublished clinical details from five previously described patients. Only two missense, homozygous, pathogenic variants were found in all affected patients, suggesting a founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. In addition, we knocked down endogenous Drosophila GEMIN4 in neurons to further investigate the mechanism of the functional defects in affected patients. Our fly model findings demonstrated developmental defects and motor dysfunction suggesting that loss of GEMIN4 function is detrimental in vivo; likely similar to human patients. To date, this study presents the largest cohort of patients affected with GEMIN4 mutations. Considering that identifying GEMIN4 defects in patients presenting with neurodevelopmental delay and congenital cataract will help in early diagnosis, appropriate management and prevention plans that can be made for affected families.

Challenges of implementing a standardized process for discharge summaries (5 years experience).

INTRODUCTION: Discharge summaries are essential documents to provide a long-lasting record of a patient's visit to a hospital. It provides an effective method of communication between various hospital services and primary care providers.We conducted a study recently in KFSH&RC recommending that every admitted patient to the Pediatric Department must have a discharge summary initiated as soon as possible within the first five days of hospitalization and to be updated periodically until its completion on the patient's discharge day. Results of this study showed that most of the patients received their discharge summaries within the time limit as recommended by the JCIA standard. OBJECTIVES: The aim of this paper is to present our department's experience in regard to the difficulties, challenges, and outcomes of the adopted work flow for discharge summaries over a period of five years. METHODS: The residents have been instructed to initiate the discharge summaries as soon as possible within the first five days of hospitalization for every patient admitted under the Department of Pediatrics regardless of the expected discharge date. Afterward, it will be the responsibility of the attending junior and senior residents to update the summaries on regular basis as long as the patient under their care. They should transfer the updated summary to the coming resident that will take over the medical care until the discharge day when the most recent update will be forwarded to the attending consultant for final review and signature. RESULTS: Between 2011 and 2016, a significant drop in the number of delinquent records was noted. From 1131 delinquent records at the end of the fourth quarter of 2011, the number has fallen to 15 in the fourth quarter of 2016. Furthermore, compliance to JCIA documentation standards showed sustained improvement since the initiation of the project. The department used to score around 50% in the discharge documentation compliance rate which has improved to be maintained around 80%s in average. CONCLUSIONS: Every new project concerning the quality of patient care provided in any institution is expected to face multiple challenges and difficulties. Proper identifications of the challenges, standardize approach for solutions, sustainability of quality monitoring for an improvement projects can maintain the success for any new project.