Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Objective: 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.

Prevalence and genotype distribution of HPV6/11/16/18 infections among 180,276 outpatient females from a Women's and Children's Central Hospital, 2015-2021, Chengdu, China.

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.

A single-institutional retrospective analysis of factors related to vaginal intraepithelial neoplasia.

BACKGROUND: To date, few studies on the factors related to vaginal intraepithelial neoplasia (VaIN) have been published. In this study, we aimed to analyze the features of VaIN and identify underlying risk factors. METHODS: Patients with VaIN or vaginitis histologically confirmed at the Industrial Street Branch of Chengdu Women's and Children's Central Hospital from July 2020 to December 2021 were included. We statistically analyzed their baseline clinical characteristics, human papillomavirus (HPV) infection status, cytology results, and pathology results. Categorical indicators were analyzed using the chi-square test or Fisher's exact test, as appropriate. Differences were considered to be statistically different with p < 0.05. RESULTS: A total of 62 patients with VaIN (mean age: 39.06 ± 11.66 years) and 32 with vaginitis (mean age: 41.13 ± 13.43 years) were included. Synchronous cervical intraepithelial neoplasia (CIN) was histologically identified in 46 (74.2%) patients with VaIN and 7 (21.9%) with vaginitis (p < 0.001). Low-grade squamous intraepithelial lesions (LSILs) and atypical squamous cells of undetermined significance (ASC-US) were the most frequent cytological abnormalities in both groups. Patients with VaIN only (62.5%) were more likely to be negative for intraepithelial lesion or malignancy than patients with synchronous CIN (32.6%; p = 0.036). No statistically significant difference in HPV infection was noted between patients with VaIN and those with vaginitis (p = 0.439). The most prevalent HPV genotype in patients with VaIN or vaginitis was HPV16, whereas both HPV58 and HPV16 were the most common in patients with concurrent CIN. CONCLUSIONS: Attention should be paid to HPV16- and HPV58-positive patients with cytological abnormalities such as ASC-US and LSILs (especially with synchronous CIN) to avoid misdiagnosis or underdiagnosis and to facilitate early interventions for VaIN.

Analysis of the agreement between colposcopic impression and histopathological diagnosis of cervical biopsy in a single tertiary center of Chengdu.

PURPOSE: The aim of this retrospective study was to analyze the agreement between colposcopic impression and histopathological diagnosis of cervical biopsy. METHODS: The medical records of patients underwent a colposcopy-guided cervical biopsy at Chengdu Women's and Children's Central Hospital between January 2017 and January 2019 were collected, including age, menopausal status, cervical cytology and human papillomavirus (HPV) test results, type of transformation zone, colposcopic diagnosis and histopathological outcomes of cervical biopsy. Colposcopy was carried out using 2011 colposcopic terminology of International Federation for Cervical Pathology and Colposcopy (IFCPC). Related variables were analyzed. RESULTS: A total of 495 patients were collected in this study. The perfect agreement between colposcopic impression and histopathological diagnosis was 46.9%, and the strength of agreement with kappa value was 0.283 (P < 0.001), and the agreement within 1 grade was 93.5%. Positive predictive value (PPV), negative predictive value (NPV), sensitivity, specificity, false-positive rate and false-negative rate of detecting HSIL or more (HSIL +) were 93.1%, 57.8%, 80.9%, 93.9%, 6.1% and 45.3%, respectively. Colposcopic diagnosis more often underestimated (43.2%) [especially in HSIL (59.3%) and carcinoma (70.7%) patients] than overestimated (9.9%) in cervical lesions. The results of cytology, HPV status, patients' age and different experiences of practitioners were the factors for under-diagnosis of HSIL + by colposcopy. CONCLUSION: Colposcopy is an excellent tool to estimate cervical high-grade lesion but is imprecise. Many factors can bias the diagnosis of colposcopy, especially the known results of cervical cytology and HPV. Precise diagnosis of cervical lesion should rely on the colposcopy-directed biopsy.

Does intact umbilical cord milking increase infection rates in preterm infants with premature prolonged rupture of membranes?

Objective: To investigate whether intact umbilical cord milking (I-UCM) can aggravate infection or result in other undesirable complications in preterm infants with premature prolonged rupture of membranes (PPROM).Methods: Neonates vaginally delivered between 28 and 37 weeks' gestation and complicated by PPROM before birth were randomly divided into two groups according to the cord clamping procedure: I-UCM before clamping and immediate cord clamping (ICC). Various parameters of the study participants were compared between the two groups.Results: Of 102 preterm infants, 48 and 54 were randomly allocated to the I-UCM and ICC groups, respectively. There were no significant differences between the two groups regarding hematological parameters (platelet count, white blood count, neutrophil ratio, and C-reactive protein) or neonatal outcomes (probable or certain neonatal infection, respiratory distress syndrome, necrotizing enterocolitis, and intraventricular hemorrhage) (p > .05). However, preterm neonates in the I-UCM group had higher serum hemoglobin and hematocrit levels (p < .05) and received fewer blood transfusions (p < .05) than those in the ICC group.Conclusion: Milking the umbilical cord to a preterm neonate with PPROM will not aggravate neonatal infection or result in other undesirable complications. This simple procedure will improve hemoglobin values and hematocrit levels and may lessen the need for transfusion during the neonatal period.