ABSTRACT
OBJECTIVE: To investigate the prenatal ultrasonographic manifestations of fetal congenital omphalo-enteric fistula with intestinal prolapse and improve the understanding and diagnosis of this disease.METHODS: A retrospective analysis of the prenatal ultrasonographic features was performed in 2 cases of fetal congenital omphalo-enteric fistula with intestinal prolapse comnfirmed after surgery between July 2016 and September 2017 in First Affiliated Hospital of Fujian Medical University,and the ultrasonographic manifestations were compared with postnatal looks and intraoperative conditions.Characteristics of prenatal ultrasonographic manifestations were summarized.RESULTS: Both cases were misdiagnosed as omphalocele by prenatal ultrasonography.Congenital omphalo-enteric fistula with intestinal prolapse was verified by surgery after delivery.A narrow pedicle,special bowel-shape and incomplete capsule were its prenatal ultrasonic characteristics.CONCLUSION: Fetal congenital omphalo-enteric fistula with intestinal prolapse is rare,but has particular prenatal ultrasonographic manifestations. Strengthening the understanding of the disease,reducing misdiagnosis and improving prenatal ultrasound diagnosis will provide help for prenatal counseling and clinical choice for time of delivery.
ABSTRACT
<p><b>BACKGROUND</b>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that primarily affects motor neurons and has no effective treatment. Recently, Iida et al. identified a single-nucleotide polymorphism (SNP) rs2275294 in the ZNF512B gene that is significantly associated with susceptibility to ALS in the Japanese population. Here, we performed a case-control study examining the possible association of rs2275294 with risk of sporadic ALS (SALS) in a large Chinese cohort.</p><p><b>METHODS</b>To assess this association, we performed a replication study in 953 SALS patients and 1039 age- and gender-matched healthy control subjects, who were recruited from Peking University Third Hospital and the First Affiliated Hospital of Anhui Medical University from January 2004 to December 2013 throughout China. We genotyped the rs2275294 SNP using polymerase chain reaction and direct sequencing.</p><p><b>RESULTS</b>The allele frequency of rs2275294 in ZNF512B was different between Japanese and Chinese. The association in Chinese between ALS patients and controls did not reach statistical significance (P = 0.54; odds ratio = 0.94; 95% confidence interval = 0.76-1.15).</p><p><b>CONCLUSIONS</b>The SNP rs2275294 in ZNF512B is not considered to be associated with ALS susceptibility in the Chinese population. Our study highlights genetic heterogeneity in ALS susceptibility in different population. Given our negative results, further replication study involving larger and more homogeneous samples in different ethnicities should be performed in the future.</p>