Case Report: A Novel Mutation Identified in Gene in a Fetus With Structural Abnormalities.

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys.

An efficient tandem synthesis of chromones from o-bromoaryl ynones and benzaldehyde oxime.

An effective transition-metal-free strategy was developed for the preparation of chromones from o-bromoaryl ynones and benzaldehyde oxime through sequential C-O bond formation. This cyclization reaction could well tolerate a wide range of functional groups, and the corresponding chromones were given in moderate to excellent yields. Mechanistically, benzaldehyde oxime as a hydroxide source and 1,3-diketone derivatives as reaction intermediates were involved in this transformation.

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15.

Objective: Noninvasive prenatal testing (NIPT) is widely used in clinical detection of fetal autosomal duplications or deletions. The aim of this study was to investigate the clinical application of NIPT for detection of chromosomal microdeletions.

Methods: Microdeletions of about 5 Mb in the long arm of chromosome 15 (q11.

An efficient preparation of β-ketophosphine oxides from alkynylphosphine oxides with benzaldehyde oxime as a hydroxide source.

An effective and facile transition-metal-free method has been developed for the synthesis of β-ketophosphine oxides from alkynylphosphine oxides with benzaldehyde oxime as a hydroxide surrogate. The current methodology provides simple access to various β-ketophosphine oxides in moderate to excellent yields with a broad substrate scope.

[Comparison of the effectiveness of 131-I and antithyroid drugs in the treatment of Graves' disease in children].

Objective: To comprehensively evaluate the treatment of Graves' disease in children with (131)I and antithyroid drugs (ATD) and to quantitatively assess the advantages and disadvantages of them.

Methods: The authors examined the outcome of (131)I and ATD treatment in children with Graves' disease at the Hospital of Dongshan District in Guangzhou during the period 1997 to 2002. Each of the 2 groups of patients consisted of 40 patients ranging in age from 8 to 14 years (mean 10.