Hepatitis C viral load and mother-to-child transmission: A systematic review and meta-analysis.

BACKGROUND AND AIM: We aim to assess the association between maternal hepatitis C virus (HCV) viral load and human immunodeficiency virus (HIV) coinfection and the risk for mother-to-child transmission (MTCT) among pregnant women infected with HCV. METHODS: A literature search of the Medline, Embase, Central, Science Citation Index Expanded (SCIE), Conference Proceedings Citation Index-Science (CPCIS), Scopus, Literature Latino-Americana e do Caribe em Ciências da Saúde (LILACS), and WHO Global Index Medicus databases, from inception to June 21, 2022, was performed. Studies that reported the incidence HCV-MTCT were included. Pooled effect estimates were calculated using the random-effects model, and Holm-Bonferroni correction was performed for multiple pooled associations. RESULTS: The present meta-analysis included 26 studies involving 4934 newborns with maternal HCV infection. Pregnant women with HCV viremia exhibited increased risk for MTCT (odds ratio [OR] 8.25 [95% confidence interval (CI) 4.65-14.63]) compared with those negative for HCV-RNA. Multiple subgroup analysis revealed that the HCV viremia/HIV-positive group demonstrated the highest risk for HCV MTCT, followed by the HCV viremia mono-infected group, while HCV-RNA-negative women demonstrated the lowest risk for HCV MTCT. Among females with HCV viremia, elevated risk for MTCT was found among subjects with a viral load ≥ 6 log10 copies/mL compared with those with viral load < 6 log10 copies/mL (OR 4.58 [95% CI: 2.52-8.34]). CONCLUSION: The incidence of HCV MTCT was increased among pregnant women with detectable HCV viremia and was even higher in those with a viral load ≥ 6 log10 copies/mL. HIV coinfection further increased the risk for HCV MTCT.

Development and Validation of a Deep Learning Algorithm to Automatic Detection of Pituitary Microadenoma From MRI.

Background: It is often difficult to diagnose pituitary microadenoma (PM) by MRI alone, due to its relatively small size, variable anatomical structure, complex clinical symptoms, and signs among individuals. We develop and validate a deep learning -based system to diagnose PM from MRI. Methods: A total of 11,935 infertility participants were initially recruited for this project. After applying the exclusion criteria, 1,520 participants (556 PM patients and 964 controls subjects) were included for further stratified into 3 non-overlapping cohorts. The data used for the training set were derived from a retrospective study, and in the validation dataset, prospective temporal and geographical validation set were adopted. A total of 780 participants were used for training, 195 participants for testing, and 545 participants were used to validate the diagnosis performance. The PM-computer-aided diagnosis (PM-CAD) system consists of two parts: pituitary region detection and PM diagnosis. The diagnosis performance of the PM-CAD system was measured using the receiver operating characteristics (ROC) curve and area under the ROC curve (AUC), calibration curve, accuracy, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and F1-score. Results: Pituitary microadenoma-computer-aided diagnosis system showed 94.36% diagnostic accuracy and 98.13% AUC score in the testing dataset. We confirm the robustness and generalization of our PM-CAD system, the diagnostic accuracy in the internal dataset was 96.50% and in the external dataset was 92.26 and 92.36%, the AUC was 95.5, 94.7, and 93.7%, respectively. In human-computer competition, the diagnosis performance of our PM-CAD system was comparable to radiologists with >10 years of professional expertise (diagnosis accuracy of 94.0% vs. 95.0%, AUC of 95.6% vs. 95.0%). For the misdiagnosis cases from radiologists, our system showed a 100% accurate diagnosis. A browser-based software was designed to assist the PM diagnosis. Conclusions: This is the first report showing that the PM-CAD system is a viable tool for detecting PM. Our results suggest that the PM-CAD system is applicable to radiology departments, especially in primary health care institutions.

Prediction of cesarean hysterectomy in placenta previa complicated with prior cesarean: a retrospective study.

BACKGROUND: The prevalence of both placenta previa and cesarean are on the rise. Multiple adverse outcomes are critically increased when placenta previa is subsequent to prior cesarean. The purpose of the present study is to develop a pre-surgical method for predicting adverse outcomes in pregnancy complicated with both placenta previa and prior cesarean. METHODS: Clinical data was obtained from the medical history system at the First Affiliated Hospital of Sun Yat-sen University from February 2003 to December 2016. All cases with a final diagnosis of "placenta previa/low lying placenta (ICD:O44.001-105)" and "scarred uterus complicated with pregnancy (ICD: O34.200-202)" were collected and reviewed. Hysterectomy was taken as the primary outcome; and blood loss was taken as the secondary outcome. RESULTS: Of 219 pregnant women in the final analysis, 25 received a hysterectomy following delivery, and 48 had blood loss exceeding 1000 ml. Pre-surgical risk factors for hysterectomy are ultrasonic signs of vascular lacunae, central placenta previa, and loss of normal hypoechoic retroplacental zone. A pre-surgical predictive equation referred to as "Hysterectomy Index in Placenta Previa with Prior cesarean (HIPs)" was generated and each risk factor was weighted to create an 8-point scale. This index yielded an area under the curve of 0.972 for the prediction of hysterectomy. CONCLUSIONS: Application of the HIPs score may provide an effective pre-surgical prediction of cesarean hysterectomy in pregnant women complicated with both placenta previa and prior cesarean.

Decreased placental and muscular expression of the fibroblast growth factor 19 in gestational diabetes mellitus.

AIMS/INTRODUCTION: Fibroblast growth factor (FGF)19 has been shown to improve glycemic homeostasis and lipid metabolism in animal models. In humans, decreased FGF19 level has been described in diabetes. The present study aimed to investigate the expression of FGF19 in gestational diabetes mellitus (GDM) patients. MATERIALS AND METHODS: Samples for measurement were obtained from 20 women with GDM and 25 healthy controls. The messenger ribonucleic acid (mRNA) and protein expression levels of FGF19, FGF21 and co-receptor ß-klotho (KLB) in the placenta, rectus muscle and subcutaneous fat tissues were quantified by real-time quantitative polymerase chain reaction, western blot and immunohistochemistry, respectively. RESULTS: Women with GDM had significantly lower mRNA and protein expressions of FGF19 than control women in the placenta (mRNA 0.33 ± 0.05 vs 0.72 ± 0.09; protein 0.34 ± 0.13 vs 0.85 ± 0.20) and rectus muscle (mRNA 0.83 ± 0.11 vs 1.28 ± 0.19; protein 0.78 ± 0.24 vs 1.23 ± 0.39). However, there were no significant differences between GDM women and controls with respect to the expression levels of FGF21 and ß-klotho in the placenta and rectus muscle. There were almost no detectable FGF19 and FGF21 expressions in subcutaneous fat tissue. Furthermore, ß-klotho expression levels were not different between the GDM and control group in subcutaneous fat. CONCLUSIONS: FGF19 expressions are decreased in the placenta and rectus muscle of women with GDM. This might contribute to the pathophysiology or development of GDM.

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

BACKGROUND: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene, in a Chinese family where two successive foetuses had been affected by severe microcephaly, is a case in point. These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities; however, the paucity of other characteristic phenotypic features had made a precise diagnosis impossible. Given that no external causative factors had been reported/identified during the pregnancies, we sought a genetic cause for the phenotype in the proband, the second affected foetus. RESULTS: A search for chromosomal abnormalities and pathogenic copy number variants proved negative. WES was also negative. These initial failures prompted us to consider the potential role of RNU4ATAC, a noncoding gene implicated in microcephalic osteodysplastic primordial dwarfism type-1 (MOPD1), a severe autosomal recessive disease characterised by dwarfism, severe microcephaly and neurological abnormalities. Subsequent targeted sequencing of RNU4ATAC resulted in the identification of compound heterozygous variants, one being the most frequently reported MOPD1-causative mutation (51G>A), whereas the other was a novel 29T>A variant. Four distinct lines of evidence (allele frequency in normal populations, evolutionary conservation of the affected nucleotide, occurrence within a known mutational hotspot for MOPD1-causative variants and predicted effect on RNA secondary structure) allowed us to conclude that 29T>A is a new causative variant for MOPD1. CONCLUSIONS: Our findings highlight the limitations of WES in failing to detect variants within noncoding RNA genes and provide support for a role for whole-genome sequencing as a first-tier genetic test in paediatric medicine. Additionally, the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants further strengthens the critical role of the 5' stem-loop structure of U4atac in health and disease. Finally, this analysis enabled us to provide prenatal diagnosis and genetic counselling for the mother's third pregnancy, the first report of its kind in the context of inherited RNU4ATAC variants.

Maternal and neonatal outcomes of pregnancy at 39 weeks and beyond with mild gestational diabetes mellitus.

OBJECTIVES: The purpose of this study was to retrospectively analyze maternal and neonatal outcomes in pregnant women with mild gestational diabetes mellitus at 39 weeks compared to 40 weeks. MATERIAL AND METHODS: Clinical data of 372 cases of mild gestational diabetes mellitus form First Affiliated Hospital of Sun Yat-sen University were analyzed retrospectively. There were 108 mild GDM patients that delivered at 40-40+6 weeks in our research group, and 264 patients that delivered in 39-39+6 weeks in the control group. Neonatal and maternal outcomes were compared between the two groups. RESULTS: There was no difference between the two groups in the rate of cesarean section (42.6% vs. 45.5%, p = 0.614). The incidence of large for gestational age between the two groups was also not different (11.1% vs. 10.6%, p = 0.887). The rate of postpartum hemorrhage and shoulder dystocia of the two groups was not different either (p > 0.05). There was no significant difference in the incidence of fetal distress, neonatal asphyxia, neonatal pathological jaundice, neonatal hypoglycemia, and neonatal respiratory distress syndrome in the two groups (p > 0.05). CONCLUSIONS: There were no significant differences in adverse pregnancy outcomes and neonatal outcomes in women with mild gestational diabetes between deliveries at 39 and 40 weeks.

Association between maternal and umbilical cord serum dipeptidyl peptidase IV in pregnant women with and without gestational diabetes mellitus.

AIM: The aim of the present study was to investigate maternal and umbilical cord serum dipeptidyl peptidase IV (DPP4) concentrations in women with and without gestational diabetes mellitus (GDM), and to evaluate a potential correlation between neonatal anthropometry and cord serum DPP4 concentration. METHODS: Twenty-eight GDM and 25 normal glucose tolerance (NGT) pregnant women were recruited into the present study. Maternal and umbilical cord serum DPP4 concentrations were measured by enzyme immunoassay. Maternal and neonatal clinical data, glucose, insulin, triglyceride, cholesterol, high-density lipoprotein, and low-density lipoprotein were recorded and measured for analysis. RESULTS: A statistically significant positive correlation was observed between maternal and umbilical cord serum DPP4 concentrations (Spearman's correlation coefficient = 0.804, P < 0.001; partial correlation coefficient r' = 0.884, P < 0.001). No significant difference was seen when comparing DPP4 concentrations for the GDM and NGT groups' maternal serum (P = 0.498), or their umbilical cord serum (P = 0.449). No statistically significant correlations were observed between umbilical cord serum DPP4 concentration and the presence of neonatal anthropometry or metabolic factors. CONCLUSION: Umbilical cord serum DPP4 concentration is associated with maternal DPP4 concentration, but is not related to neonatal anthropometry or metabolic factors. No significant difference was observed between the GDM and NGT groups in maternal or cord serum DPP4 concentrations.

[Application of amplitutude integrated electroencephalography for early diagnosis of brain injury in premature infants].

OBJECTIVE: To study the characteristics of amplitude integrated electroencephalography (aEEG) in preterm infants with brain injury. METHODS: This study included 62 cerebral damage infants with 28-36 weeks gestational age (GA), and another 51 normal infants in control group, aEEG recording was performed to each infant during the first 48 h of life, the duration of each recording was at least 2 h. The features of aEEG, such as continuity(Co), sleep-wake cycling (Cy) and amplitude of the lower border (LB), were evaluated by semiquantitative analysis and compared between the two groups. RESULTS: All the aEEG features were found having significantly lower values in brain injuries group (P < 0.05). Logistic regression of aEEG features to the presence of brain injury revealed that only Cy was significantly correlated to the outcome (OR = 0.217, P < 0.05). ROC curve demonstrated Cy of the best sensitivity and specificity with 0.769 AUC. Co, LB yielded 0.677, 0.602 AUC respectively. Correlation analysis of GA to Co, Cy, LB and total score showed significantly correlated, the correlation coefficient for Co, Cy, LB and total scores were 0.546, 0.488, 0.536, 0.588 respectively (P < 0.05). CONCLUSION: The Cy in the initial aEEG is predictive for brain injury in premature infants with 28-36 weeks GA. The older the GA at birth, the more mature the aEEG pattern in premature neonates.

Myoclonus precipitated by oral suspension of oxcarbazepine in idiopathic generalized epilepsy.

Oxcarbazepine (OXC) is widely registered for the treatment of partial seizures and generalized tonic-clonic seizures (GTCS). Myoclonic seizures induced by OXC are uncommon. We report a child with idiopathic generalized epilepsy who developed myoclonic seizures and had an abnormal electroencephalogram (EEG) when oral suspension of OXC was introduced. This study suggests that oral suspension of OXC can precipitate myoclonus.