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.

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

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.

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 investigate clinical efficacy of lateral tibia bone removal micro vessel regeneration combined with hyperbaric oxygen (HBO) in the treatment of diabetic foot ulcer.Methods A retrospective analysis was made on the clinical practice of lateral tibia bone removal micro vessel regeneration combined with HBO in 21 patients (the treatment group)with diabetic foot ulcer who received treatment in the hospital from November 2015 to March 2017.The patients in the treatment group were compared with the 21 patients (the control group) with diabetic foot ulcer who were treated with HBO at the same period.For the patients in the treatment group,a bone window with an area of about 2 cm × 10 cm was performed at medial surface of the affected lateral tibia,and a special external fixation lateral traction frame was placed and debridement was performed on the affected foot at the same time.On the first day after surgery,the patients received HBO therapy with a pressure of 0.20 MPa,once a day,10 days a treatment course,with a total of 3 courses.On the fifty day after surgery,the bone window was slowly removed laterally (1 mm/day).For the patients in the control group,debridement of the affected foot was performed,and on the first day after surgery,HBO therapy was also implemented in the control group with the same treatment scheme as the treatment group.Before surgery and 3 months after surgery,corresponding dada of healing time,ankle brachial index (ABI) and Michigan neuropathy sensation instruments (MNSI) were closely observed in the patients of the 2 groups.Results The patients of the two groups all had medical followed-ups for an average of 9.3 months.In the control group,the wound of one patient with Wagner Ⅴ failed to heal and in the end had amputation,but the wound of the remaining patients all healed,with an average healing time of (39.52 ± 8.43) days.The wound of the treatment group all healed,with an average healing time of (31.74 ± 6.12) days.Three months after surgery,the ABI level of the treatment group increased from pre-surgical level 0.56 ± 0.18 to post-surgical level 0.94 ± O.16,and the MNSI level decreased from pre-surgical level 5.92 ± 1.13 to post-surgical level 4.11 ± 1.25.Three months after surgery,the ABI level of the control group increased from pre-surgical level 0.54 ±0.21 to post-surgical level 0.81 ±0.20,and the MNSI level decreased from pre-surgical level 5.74 ± 1.26 to post-surgical level 4.98 ± 1.34.Statistical significance could be noted in wound healing time when comparisons were made between the two groups.Three months after surgery,statistical significance could also be found in ABI and MNSI levels as compared with those detected before surgery.The treatment group was superior to the control group,also with statistical significance.Conclusions Lateral tibia bone removal micro vessel regeneration could be used to reconstruct vasoganglion below lower leg and promote surrounding vessel and nerve function recovery.Combined with HBO therapy,it could promote wound surface healing,with the advantages of simple surgery,accurate curative effect,high success rate of limb-salvage.For this reason,it was one of the ideal methods for the treatment of diabetic foot ulcer.

Objective To investigate clinical efficacy of lateral tibia bone removal micro vessel regeneration combined with hyperbaric oxygen (HBO) in the treatment of diabetic foot ulcer.Methods A retrospective analysis was made on the clinical practice of lateral tibia bone removal micro vessel regeneration combined with HBO in 21 patients (the treatment group)with diabetic foot ulcer who received treatment in the hospital from November 2015 to March 2017.The patients in the treatment group were compared with the 21 patients (the control group) with diabetic foot ulcer who were treated with HBO at the same period.For the patients in the treatment group,a bone window with an area of about 2 cm × 10 cm was performed at medial surface of the affected lateral tibia,and a special external fixation lateral traction frame was placed and debridement was performed on the affected foot at the same time.On the first day after surgery,the patients received HBO therapy with a pressure of 0.20 MPa,once a day,10 days a treatment course,with a total of 3 courses.On the fifty day after surgery,the bone window was slowly removed laterally (1 mm/day).For the patients in the control group,debridement of the affected foot was performed,and on the first day after surgery,HBO therapy was also implemented in the control group with the same treatment scheme as the treatment group.Before surgery and 3 months after surgery,corresponding dada of healing time,ankle brachial index (ABI) and Michigan neuropathy sensation instruments (MNSI) were closely observed in the patients of the 2 groups.Results The patients of the two groups all had medical followed-ups for an average of 9.3 months.In the control group,the wound of one patient with Wagner Ⅴ failed to heal and in the end had amputation,but the wound of the remaining patients all healed,with an average healing time of (39.52 ± 8.43) days.The wound of the treatment group all healed,with an average healing time of (31.74 ± 6.12) days.Three months after surgery,the ABI level of the treatment group increased from pre-surgical level 0.56 ± 0.18 to post-surgical level 0.94 ± O.16,and the MNSI level decreased from pre-surgical level 5.92 ± 1.13 to post-surgical level 4.11 ± 1.25.Three months after surgery,the ABI level of the control group increased from pre-surgical level 0.54 ±0.21 to post-surgical level 0.81 ±0.20,and the MNSI level decreased from pre-surgical level 5.74 ± 1.26 to post-surgical level 4.98 ± 1.34.Statistical significance could be noted in wound healing time when comparisons were made between the two groups.Three months after surgery,statistical significance could also be found in ABI and MNSI levels as compared with those detected before surgery.The treatment group was superior to the control group,also with statistical significance.Conclusions Lateral tibia bone removal micro vessel regeneration could be used to reconstruct vasoganglion below lower leg and promote surrounding vessel and nerve function recovery.Combined with HBO therapy,it could promote wound surface healing,with the advantages of simple surgery,accurate curative effect,high success rate of limb-salvage.For this reason,it was one of the ideal methods for the treatment of diabetic foot ulcer.

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.