Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel–de Vries syndrome.

Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel–de Vries syndrome.

Interventions Using Technologies for Older Adults in Long-term Care Facilities: A Systematic Review

PURPOSE: Although innovative interventions using technologies have been introduced in long-term care settings, available evidence is still anecdotal. The purpose of this study is to investigate and synthesize the outcomes of interventions using technologies delivered to nursing home residents. METHODS: Published clinical trials were identified through PubMed, CINHAL, Cochrane and PsycINFO databases and manually hand-searching. Eligible studies were articles published between 1997–2016 in English or Korean with a randomized controlled trial or quasi-experimental design in which interventions using technologies were delivered to nursing home residents. RESULTS: A total of 20 studies were selected for this review. Types of interventions using technologies were classified into the electronic documentation technology (n=1), the clinical decision support system (n=1), the safety technology (n=1), the health and wellness technology (n=10), and the social connectedness technology (n=7). Overall resident outcomes indicated that interventions using technologies improved behavioral symptoms and psycho-social outcomes, but mixed results were shown in the aspects of physical function, cognitive function, social relationship and quality of service. CONCLUSION: This review demonstrates that incorporating technologies into nursing home care have positive effects on residents' psycho-social outcomes and behavioral symptoms. To disseminate the effectiveness of interventions using technologies, further research is needed to determine what mechanisms underlying such relationships exist.

A Case of Endovascular Stent Grafting for an Aortoesophageal Fistula / 대한내과학회지

An aortoesophageal fistula is a rare cause of upper gastrointestinal bleeding. The standard treatment of an aortoesophageal fistula is surgical, because conservative management results in very high mortality. Nevertheless, the mortality related to the surgical treatment ranges from 30 to 60%. Recently, endovascular stent grafting has become an alternative to open surgery in selected patients. We report an aortoesophageal fistula treated with endovascular stent grafting in an 84-year-old female with hematemesis and abdominal pain. Endoscopy showed a 5-cm pulsating esophageal mass with central ulceration and bleeding. Computed tomography (CT) of the abdomen revealed a descending thoracic aortic pseudoaneurysm. Being at high risk in open thoracic surgery, she underwent endovascular stenting. We suggest that endovascular stent grafting is an alternative treatment of aortoesophageal fistula, instead of open surgery, in selected patients.

A Case of Postpolypectomy Coagulation Syndrome Had a Hemicolectomy / 대한소화기내시경학회지

Colonoscopy is commonly used as a screening tool for colorectal polyps and cancer. It also offers a chance to remove polyps via the polypectomy technique. Colonoscopic polypectomy is a relatively safe procedure, yet there is the possibility of serious complications such as perforation and bleeding. Postpolypectomy coagulation syndrome presents with pain, fever, an elevated white blood cell count and signs of peritoneal irritation, and usually within 12 hours of the procedure. No free air is seen on plain films or a CT scan, which is different from frank bowel perforation. The management of postpolypectomy coagulation syndrome includes fasting, antibiotics and intravenous hydration. We report here on a case of a 53-year-old woman who underwent right hemicolectomy because she presented with fever, signs of peritoneal irritation and shock after colonoscopic polypectomy. The final diagnosis was postpolypectomy coagulation syndrome as there was no perforation in the resected specimen.