OBJECTIVE: To explore the clinical manifestations and genetic etiology of a child with Progressive familial intrahepatic cholestasis (PFIC2). METHODS: From April 2024 to June 2024, a child with jaundice, hepatomegaly and abnormal liver function who was repeatedly admitted to the First Department of Pediatrics of Qinzhou Maternal and Child Health Care Hospital was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were collected from the child and her parents. Genomic DNA was extracted for trio-whole exome sequencing, the candidate variant was verified by Sanger sequencing and bioinformatic analysis using REVEL, BLAST/BLAT, Swiss-Model and Swiss-Pdb Viewer software. This study was approved by the Medical Ethics Committee of the Qinzhou Maternal and Child Health Care Hospital (Ethics No.: L20240116). RESULTS: The child was a 1.5-month-old female. Her main clinical manifestations included jaundice, hepatomegaly, brownish urine and earth-like stool. Laboratory examination showed increased levels of bilirubin, mainly direct bilirubin, increased aminotransferase, especially glutamic oxalacetic aminotransferase, accompanied by increased bile acid. Genetic testing revealed that the she has harbored a homozygous c.3410T>G (p.V1137G) variant of the ABCB11 gene, for which both of her parents were heterozygous carriers. The variant was unreported previously, and was predicted to be pathogenic based on REVEL. Prediction with BLAST/BLAT software showed that the amino acids were highly conserved among different species. Swiss-Pdb Viewer software predicted that the variant has resulted in changes in hydrogen bonds between amino acids. According to the guidelines from the American Collage for Medical Genetics and Genomics (ACMG), the variant was determined to be likely pathogenic (PM1+PM2_Supporting+PM3_Supporting+PP3_Moderate). CONCLUSION The homozygous variant of the ABCB11 gene may be the genetic cause of this child. Genetic testing is helpful for confirming the diagnosis and enrich the mutational spectrum of the ABCB11 gene.
Humans ; Cholestasis, Intrahepatic/genetics* ; Female ; Infant ; ATP Binding Cassette Transporter, Subfamily B, Member 11/genetics* ; Homozygote ; Mutation

OBJECTIVETo evaluate the efficacy and metabolic safety of long-term treatment with ethinyl oestradiol/cyproteroneand desogestrel/ethinyl oestradiol tablets in women with polycystic ovary syndrome (PCOS).

METHODSWomen with PCOSfrom West China Second Hospital of Sichuan University enrolled between September, 2011 and August, 2013 were randomlyallocated to receive either ethinyl oestradiol/cyproterone tablets (Group A, =355) or desogestrel/ethinyl oestradiol tablets(Group B, =357) for a prospective observation period of 6 months. Women with insulin resistance also received metformin. Atbaseline, 3 months, and 6 months, the patients were evaluated for menstruation, acne score, body mass index (BMI), waist-tohip ratio (WHR), plasma levels of sex hormones, fasting blood glucose (FPG), HOMA-insulin resistance index (HOMA-IR), serum lipid, ovarian volume, and the number of ovarian follicles.

RESULTSAll the patients had a regular menstrual cycle aftertreatments. Testosterone level, acne score, LH/FSH, ovarian volume, and the number of follicles decreased significantly afterthe treatments without significant differences between the two groups. Significant increases were noted in TG, TCh, LDL, HDL, and AIP, and HDL level in group A as compared with group B ( < 0.001). FPG decreased in both groups, and wassignificantly lower in group B at 6 months ( < 0.05). BMI and WHR decreased in all the patients with insulin resistance aftercombination treatment with metformin ( < 0.05), but increased significantly in patients without insulin resistance ( < 0.05). Ingroup A, HOMA- IR significantly increased in patientswithout insulin resistance at 3 months ( < 0.05), whereas asignificant increase was not observed until 6 months ingroup B ( < 0.05).

CONCLUSIONSBoth ethinyl oestradiol/cyproterone tablets and desogestrel/ethinyl oestradioltablets can relieve the symptoms of PCOS, but it isadvisable to assess the risk of cardiovascular diseasebefore the treatments.

Objective To observe continuous venous-venous hemofiltration (CVVH) for treatments and cares of severe acute pancreatitis(SAP). Methods From August 2004 to August 2006, 15 cases with SAP were in conventional treatment (the control group), from September 2006 to August 2010, 20 cases with SAP were nursed with CVVH(the observation group). We surveyed patients' vital signs (including body temperature, heart rate, breathing and blood pressure),mental symptoms, abdominal signs and monitored liver and kidney functions. Additionally we executed APACHE Ⅱ scores. We analyzed them retrospectively. Results The afore - mentioned indexes of two groups were significant in statistics, the observation group had lower incidence of MODS、MOF than the control group after 10 days caring. Conclusions The CVVH could correct systemic inflammatory reaction of SAP and prevent complications. Standard technical operation and intensive nursing can ensure smooth process of CVVH and decrease complications caused by CVVH.