Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

PURPOSE: 46,XY disorders of sex development (DSD) is the most complicated and common type of DSD. To date, more than 30 genes have been identified associated with 46,XY DSD. However, the mutation spectrum of 46,XY DSD is incomplete owing to the high genetic and clinical heterogeneity. This study aims to provide clinical and mutational characteristics of 18 Chinese patients with 46,XY DSD. METHODS: A total of 20 unrelated individuals with 46,XY DSD were recruited. Whole-exome sequencing (WES) or custom-panel sequencing combined Sanger sequencing were performed to detect the pathogenic mutations. The pathogenicity of the variant was assessed according to the American College of Medical Genetics and Genomics (ACMG) guidance and technical standards recommended by the ACMG and the Clinical Genome Resource (ClinGen). RESULTS: Six patients harbored NR5A1 mutations; two patients harbored NR0B1 mutations; six patients harbored SRD5A2 mutations; six patients harbored AR mutations. Six novel genetic variants were identified involved in three genes (NR5A1, NR0B1, and AR). CONCLUSION: We determined the genetic etiology for all enrolled patients. Our study expanded the mutation spectrum of 46,XY DSD and provided diagnostic evidence for patients with the same mutation in the future.

Responses of blood glucose, insulin, glucagon, and Fatty acids to intraruminal infusion of propionate in hanwoo.

This study was carried out to investigate the effects of intraruminal infusion of propionate on ruminal fermentation characteristics and blood hormones and metabolites in Hanwoo (Korean cattle) steers. Four Hanwoo steers (average body wt. 270 kg, 13 month of age) equipped with rumen cannula were infused into rumens with 0.0 M (Water, C), 0.5 M (37 g/L, T1), 1.0 M (74 g/L, T2) and 1.5 M (111 g/L, T3) of propionate for 1 hour per day and allotted by 4×4 Latin square design. On the 5th day of infusion, samples of rumen and blood were collected at 0, 60, 120, 180, and 300 min after intraruminal infusion of propionate. The concentrations of serum glucose and plasma glucagon were not affected (p>0.05) by intraruminal infusion of propionate. The serum insulin concentration at 60 min after infusion was significantly (p<0.05) higher in T3 than in C, while the concentration of non-esterified fatty acid (NEFA) at 60 and 180 min after infusion was significantly (p<0.05) lower in the propionate treatments than in C. Hence, intraruminal infusion of propionate stimulates the secretion of insulin, and decreases serum NEFA concentration rather than the change of serum glucose concentration.

Efficacy of tomato powder as antioxidant in cooked pork patties.

This study was carried out to determine the effects of tomato powder (TP) on cooked pork patties during storage at 10±1°C in the dark. The total phenolic and flavonoid contents of TP extract were 26.22 mg gallic acid/100 g and 3.52 mg quercetin/100 g, respectively. The extract of TP showed a potential antioxidant activity in the DPPH radical-scavenging assay (EC50 = 16.76 µg/mL). Pork patties were manufactured with 0.25% (T1), 0.5% (T2), 0.75% (T3) and 1.0% (T4) TP in a basic formula (C). The pH and volatile basic nitrogen (VBN) values of T2, T3 and T4 patties were lower (p<0.05) than the C patties during storage. Increased concentration of TP in meat patties decreased (p<0.05) the 2-thiobarbituric acid reactive substances (TBARS) and total plate count (TPC) values at d 7 of storage. Tomato treated-patties had lower (p<0.05) values for lightness (L*), but higher (p<0.05) values for redness (a*) and yellowness (b*) at d 3 and 7 of storage compared with the C. In the case of sensory evaluation, the scores of colour, flavour and overall acceptability of T3 and T4 patties were higher (p<0.05) than those of the C patty after 3 or 7 days of storage.

Ex-utero intrapartum treatment: a controlled approach to the management of anticipated airway problems in the newborn.

Airway problems in an unborn foetus that may cause obstruction can be safely managed using an ex-utero intrapartum technique. Advanced technology now allows many congenital airway problems to be diagnosed in the prenatal period. Careful prenatal planning of an ex-utero intrapartum treatment allows safe airway control while the foetus remains on uteroplacental support. It avoids the need for emergent intervention of an acutely obstructed airway in a neonate that often has disastrous consequences.