Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Background: 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. Methods: 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. Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing. Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.

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 (q11.2-q12) were detected by NIPT and were confirmed by karyotype analysis and copy number variation (CNV) analysis based on high-throughput sequencing technology. RESULTS: The CNV results of prenatal diagnosis showed that there were approximately 4.96 Mb of microdeletions in 15q11.2-q13.1, which was consistent with the NIPT results. The karyotype analysis showed no abnormalities. CONCLUSION: In this study, the microdeletion fragment of fetal chromosome 15 was successfully detected and diagnosed using NIPT. This suggests that NIPT is an efficient method to gain genetic information about chromosomal abnormalities.

An efficient preparation of ß-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 ß-ketophosphine oxides from alkynylphosphine oxides with benzaldehyde oxime as a hydroxide surrogate. The current methodology provides simple access to various ß-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 10.7 +/- 2.2). The groups were similar in age, gender, length of disease, goiter size, and initial serum thyroid hormone levels. Thyroid status was assessed > 2 year after the therapies started. The efficacy of the therapeutic methods were scored as follows: the children whose disease was cured were marked 0, and those who had improvement but were not cured were marked 1, and those who remained unchanged were marked 2. After treatment the patients who were demonstrated to have ophthalmopathy or more severe ophthalmopathy, hyperthyroid heart disease, liver function damage and leukopenia were marked 2 respectively, and those who showed temporary hypothyroidism and permanent hypothyroidism were marked 1 and 2, respectively. Those who had a relapse of the disease after being cured were marked 2. The effects of two groups and total scores were compared. RESULTS: The total score of the group treated with (131)I was 34; and the median score was 1; the total score of the group treated with ATD was 69, and the median score was 1.5; the difference between the two groups was statistically significant (P < 0.01). When these two groups were compared, the advantage of (131)I in the treatment of this disease was clear. The incidences of ophthalmopathy and improvement of ophthalmopathy of the two groups were not significantly different (P > 0.05). No significant difference was found in incidence of hypothyroidism between the two groups (P > 0.05). There was no significant worsening or new development of ophthalmopathy or hypothyroidism after (131)I and ATD treatment. The rate of relapse of hyperthyroidism among patients cured with (131)I was significantly lower than that among patients cured with ATD (P < 0.05). In the patients treated with (131)I the incidences of hyperthyroid heart disease, liver function damage, leukopenia and so on were significantly lower than those of patients treated with ATD (P < 0.05). CONCLUSIONS: (131)I therapy was superior to the ATD in treatment of the children with Graves' disease. Observations for more than 2 years after treatment with (131)I showed that there were no harmful side effects or complications. (131)I can be recognized as the safer, more convenient and effective treatment than ATD for Graves' disease in children.