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We report a case of Carmi Syndrome in a neonate. Aim: To share our lessons in diagnosis of the case of Carmi Syndrome. Case Report: Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G4P2+1L1 multipara through cesarean section delivery in hospital in a non-consanguineous marriage with 4000mL of II°meconium-stained amniotic fluid. He was found extensive skin loss over lower legs and other parts, with scattered blisters and bilateral microtia. Plain abdominal X-ray revealed a large gastric air bubble with no gas distally. The mother had an intrauterine fetal loss previously for reasons unknown. The dermatologist diagnosed the newborn with Bart Syndrome, while the pediatric surgeon diagnosed congenital pyloric atresia(CPA). The parents refused further treatment and the neonate passed away about 30 hours after birth. Outcome: The neonate passed away about 30 hours after birth. Conclusion: Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed. [ABSTRACT FROM AUTHOR]

Aims: To evaluate the influence of gestational diabetes mellitus (GDM) on the perinatal outcomes of twin pregnancies and its impact on fetal growth profiles of twin offspring from 6 weeks to 12 months of corrected age.Methods: A longitudinal cohort study was conducted among pregnant women with twins and their twin offspring. All information on perinatal outcomes and child growth trajectories from 6 weeks to 12 months of corrected age were obtained and analyzed using a general linear model and logistic regression models.Results: GDM was not correlated with adverse perinatal outcomes of twin pregnancies; however, in monochorionic diamniotic (MCDA), but not dichorionic diamniotic (DCDA) twin pregnancies, GDM was correlated with gestational hypertension disorder and a fetus being small for gestational age (OR, 2.68; 95% CI 1.16-6.04 and OR, 0.35; 95% CI 0.16-0.76, respectively). In both MCDA and DCDA groups, GDM was positively associated with a higher risk of childhood overweight at 6 months of corrected age (2.32 [1.05, 5.09] and 2.00 [1.13, 3.53]).Conclusions: GDM had a greater impact on MCDA twin pregnancies in terms of maternal gestational hypertension disease and small for gestational age of newborns. Additionally, twin offspring exposed to GDM had a higher risk of being overweight at 6 months of corrected age irrespective of chorionicity.Clinical Trial Registration: ChiCTR-OOC-16008203. [ABSTRACT FROM AUTHOR]

Background: The primary aim of the study is to investigate the perinatal outcomes in intrahepatic cholestasis of pregnancy (ICP) with monochorionic diamniotic (MCDA) twin pregnancy.Methods: This study is a retrospective observational study for women with ICP and MCDA twin pregnancy. Included cases were divided into mild ICP group (10-39 mmol/L) and severe ICP group (> = 40 mmol/L), whose perinatal outcomes were compared between this two groups and whose predictors of adverse perinatal outcomes were evaluated.Results: 37 cases and 21 cases are in mild and severe ICP group respectively, of which, the incidence of gestational diabetes mellitus (GDM) and iatrogenic preterm delivery in severe ICP group are higher than those in mild ICP group. Gestational age (GA) at diagnosis of ICP < 32 weeks is an independent risk factor for GA at delivery < 35 weeks and for composite adverse neonatal outcome. Total bile acids (TBA) > 40 mmol/l is an independent risk factor for meconium-stained amniotic fluid.Conclusion: For women with ICP and MCDA twin pregnancy, GA at diagnosis of ICP < 32 weeks and TBA > 40umol/L are associated with adverse perinatal outcomes. [ABSTRACT FROM AUTHOR]

The aims of this study on human papilloma virus (HPV) 6/11/16/18 infection among females in Chengdu were to provide more targeted strategies for the prevention and treatment of cervical cancer and genital warts. In this study, the infection status of 20 genotypes was analysed by gene chip technology. The prevalence rates of HPV-6, -11, -16, and -18 infection among 180,276 cases were 0.94%, 0.57%, 3.22%, and 1.28%, respectively. The prevalence of HPV 6/11/16/18 showed a bimodal U-shaped curve with age; the first and second peak occurred among females < 20 and ≥ 60 years old, respectively. As the multiplicity of infections involving HPV6/11/16/18 increases, the infection rate decreases. The ratios of HPV16 single infection showed a yearly increase. The top five genotypes with HPV-16, -18, -6, and -11 in coinfection were HPV52/58/53/51/33, HPV 52/16/53/58/51, HPV52/16/58/51/53 and HPV16/52/58/59/18, respectively, HPV16/18/6/11 were mainly coinfected with HR-HPV. In sum, among the five vaccines available, nonavalent vaccine is more suitable for Chengdu females. For young females prioritizing vaccination is essential in the current context, while HPV screening remains an effective approach for older females. Additionally, in patients with genital warts, it is necessary to assess the presence of high-risk HPV infection and manage it appropriately in patients with genital warts., (© 2023. The Author(s).)