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Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700). Genetic testing is important in the diagnosis, clinical management, and prevention of AIS (MIM# 300,068). The AR (HGNC: 644) pathogenic variant detection rate ranges from 65% to 95% for patients with complete AIS (CAIS) and 40%–45% for patients with partial androgen insensitivity syndrome (PAIS). Identification of a pathogenic mutation in the AR confirms the diagnosis of AIS, especially in the milder forms that may have a phenotypic overlap with other disorders of sex development. Improvement of the molecular diagnostic rate of AIS is urgently required in clinical practice. We reported the results of the molecular diagnosis of a patient with CAIS who failed previously in either the traditional Sanger sequencing or next-generation sequencing (NGS). Using whole-exome sequencing (WES) combined with a special polymerase chain reaction (PCR) and deep sequencing, we successfully identified a pathogenic variant, a hemizygous mutation (c.1395-1396insGA), in the GC-enriched and unstable GCC repeat regions of the AR gene of the proband.Conclusion: The results may be advantageous for the improvement of the detection rate of AIS, as well as other inherited disorders whose disease-causing genes contain GC-enriched and unstable GCC repeat regions.

In this paper, a novel combined heat and power (CHP) system is proposed in which the waste heat from a supercritical CO2 recompression Brayton cycle (sCO2) is recovered by a LiBr-H2O absorption heat pump (AHP). Thermodynamic and exergoeconomic models are established on the basis of the mass, energy, and cost balance equations. The proposed sCO2/LiBr-H2O AHP system is examined and compared with a stand-alone sCO2 system, a sCO2/DH system (sCO2/direct heating system), and a sCO2/ammonia-water AHP system from the viewpoints of energy, exergy, and exergoeconomics. Parametric studies are performed to reveal the influences of decision variables on the performances of these systems, and the particle swarm optimization (PSO) algorithm is utilized to optimize the system performances. Results show that the sCO2/LiBr-H2O AHP system can obtain an improvement of 13.39% in exergy efficiency and a reduction of 8.66% in total product unit cost compared with the stand-alone sCO2 system. In addition, the sCO2/LiBr-H2O AHP system performs better than sCO2/DH system and sCO2/ammonia-water AHP system do, indicating that the LiBr-H2O AHP is a preferable bottoming cycle for heat production. The detailed parametric analysis, optimization, and comparison results may provide some references in the design and operation of sCO2/AHP system to save energy consumption and provide considerable economic benefits.

Background: To observe the basic metabolic characteristics of obese patients with polycystic ovarian syndrome (PCOS), and observe and compare the effect of laparoscopic sleeve gastrectomy and metformin treatment after 3 months. Methods: In January to December 2018, the Second Hospital of Hebei Medical University selected 104 women who were classified as obese with a body mass index (BMI) of 28 kg/cm2 or higher and had PCOS. They were divided into obese PCOS group (53 cases) and obese non-PCOS group (51 cases). Results: 1. There was no significant difference in waist circumference and WHR between patients who are obese with PCOS and patients who are obese without PCOS (P > 0.05). Obese PCOS patients were significantly higher in anti-Mullerian hormone (AMH), LH/FSH, T, FAI, homa-ir, triglyceride (TG), low density lipoprotein (LDL), Apo-B and uric acid than the group of non-PCOS patients who were obese. (P<0.05). The SHBG levels of obese patients with PCOS were obviously lower when contrasted with the levels in obese patients without PCOS (P < 0.05). 2. Body weight, BMI, INS, homa-ir and TG of obese PCOS patients were significantly decreased 3 months after laparoscopic sleeve gastrectomy compared with that before surgery (P < 0.05). After three months of medical treatment with metformin, the patients' homeostatic model assessment of insulin resistance (HOMA-IR) was obviously reduced when contrasted with the pre-treatment HOMA-IR levels (P < 0.05), and there was no significant difference in the improvement degree of homa-ir between the two groups (P > 0.05). Conclusions: 1. Obese patients with PCOS demonstrated higher expression of AMH, LH/FSH, T, SHBG, and FAI when contrasted with the control group. Additionally, they experienced more severe insulin resistance and lipid metabolism disorders. 2. The weight and BMI of obese PCOS patients were significantly decreased after weight loss, while IR and blood lipid were significantly improved, while IR was improved in metformin group, and no significant discrepancy was observed in the degree of improvement of insulin resistance between both groups. [ABSTRACT FROM AUTHOR]

Lipase hydrolysis is an effective method to develop different functional types of lipids. In this study, tuna oil was partially hydrolyzed at 30% and 60% by Thermomyces lanuginosus lipase (TL 100 L) and Candida Antarctica lipase A (ADL), respectively, to obtain lipid-modified acylglycerols. The lipidomic profiling of the acylglycerols was investigated by UPLC-Q-TOF-MS and GC–MS to clarify the lipid modification effect of these two lipases on tuna oil. The results showed that 247 kinds of acylglycerols and 23 kinds of fatty acids were identified in the five samples. In the ADL group, the content of triacylglycerols (TAG) and diacylglycerols (DAG) increased by 4.93% and 114.38%, respectively, with an increase in the hydrolysis degree (HD), while there was a decreasing trend in the TL 100 L group. TL 100 L had a better enrichment effect on DHA, while ADL was more inclined to enrich EPA and hydrolyze saturated fatty acids. Cluster analysis showed that the lipids obtained by the hydrolysis of TL 100 L and ADL were significantly different in the cluster analysis of TAG, DAG, and monoacylglycerols (MAG). TL 100 L has strong TAG selectivity and a strong ability to hydrolyze acylglycerols, while ADL has the potential to synthesize functional lipids containing omega-3 PUFAs, especially DAG.