TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.

Rare and common genetic variants underlying the risk of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.

Clinical characteristics and management of reoperation for high jejunal atresia: a retrospective study.

Objective: To analyze the clinical characteristics and available treatment strategies for reoperation of neonatal high jejunal atresia, and recommend preventive measures to reduce the reoperation rate of high jejunal atresia.

Methods: The clinical data of 16 children with high jejunal atresia who underwent reoperation in the Neonatal Surgery Department at Children's Hospital of Zhejiang University School of Medicine from January 2018 to January 2023 were retrospectively analyzed.

Results: Among the 16 unplanned reoperations, 7 (43.

[Clinical characteristics and risk factors for adverse outcomes in omphalocele].

To investigate the clinical characteristics of omphalocele, and to assess the risk factors associated with adverse outcomes. A retrospective cohort study was conducted. Clinical data of 224 patients diagnosed with omphalocele, who were hospitalized at Children's Hospital, Zhejiang University School of Medicine from January 2013 to December 2022, were collected.

Supplementation of Olive Oil and Flaxseed Oil on Blood Pressure and Inflammation in Healthy and At-Risk Adults: A Systematic Literature Review and Meta-Analysis.

Background: Adding olive oil (OO) and flaxseed oil (FLO) to the diet has been reported to improve endothelial function and reduce inflammation. However, the efficacy of supplementing OO and FLO on blood pressure (BP) in normo-, pre-, and hypertensive stage 1 adults is uncertain.

Objective: This study aimed to systematically review the literature on OO and FLO supplementation on BP and select inflammatory markers in healthy adults and adults at risk of hypertension.