Congenital Anomalies最新文献

Forensic odontology plays a crucial role in establishing the identity in mass disasters and criminal cases with high accuracy. Dental anomalies and features help in such situations. Congenital and developmental dental anomalies can be easily documented to establish distinctive and individualistic characteristics of an individual. The location, number of teeth involved, and the type of anomaly vary between individuals. Similarly, dental malformations also assist greatly in the identification process. Many types of dental anomalies have been studied in the past for their individualistic characteristics in forensic examinations. One such dental anomaly is odontoma, which is a benign odontogenic malformation. This malformation may also help in the identification of the deceased, when recorded and examined accurately. An odontome is a malformed teeth-like structures consisting of enamel, dentin, and pulpal tissue, formed due to the growth of completely differentiated epithelial and mesenchymal cells. If antemortem (AM) dental records incorporate information regarding odontomes and other dental anomalies, including in radiographs, orthopantomograms or microradiographs, positive identification may be established by comparison of these records with postmortem (PM) records. In the present communication, a rare case of compound composite odontoma in the anterior mandible with multiple denticles has been discussed with a brief overview of congenital and developmental dental anomalies. The authors emphasize the importance of such rare dental anomalies and malformations which may be used for identifying the deceased in mass disasters and forensic identification.

This study aimed to compare fetal myocardial performance index (MPI) between fetuses of pregnant women with gestational diabetes mellitus (GDM) and healthy controls and to evaluate the relationship between MPI and maternal glucose levels. This was a prospective study of 90 pregnant women, including 50 pregnancies with GDM (27 pregnancies with insulin-regulated GDM and 23 pregnancies with diet-regulated GDM) and 40 healthy controls. Isovolumetric contraction time (ICT) + isovolumetric relaxation time (IRT)/ejection time (ET) were used to calculate the MPI (MPI = [ICT + IRT]/ET). Fetal MPI, PR interval, E/A ratio, maternal plasma glucose levels on the day of MPI measurement, and neonatal outcomes were compared. The fetal left-MPI was significantly higher in the GDM group than healthy controls (0.43 ± 0.04 vs. 0.40 ± 0.06, p = 0.007). The best cut-off level for MPI was >0.41 to predict adverse perinatal outcomes (sensitivity: 70%, specificity: 68%, area under the curve: 0.715, 95% confidence interval: 0.5143–0.8205, p < 0.001). The fetal MPI values showed no correlation with maternal plasma fasting, postprandial glucose, and hemoglobin A1c (HbA1c) levels. Reduced E/A ratio, higher neonatal intensive care unit admissions, and the need for cesarean delivery were detected in the GDM group. Fetal MPI is impaired in women with GDM, and the need for insulin therapy is associated with higher MPI values and adverse neonatal outcomes. Fetal MPI can help detect fetuses with potential adverse outcome risks, owing to impaired fetal cardiac function.

Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of  crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly divided into six experimental groups. Five of these groups consumed a drink containing crude drug licorice root extract, with the following weights attributed to each group: 3 g in group I, 6 g in group II, 7.5 g in group III, 9 g in group IV, and 12 g in group V, whereas a control group consumed tap water. The effect of licorice extract was examined for fetal mortality and fetal orofacial cleft development compared to the control group. The rates for fetal mortality were 11.28%, 7.41%, 9.18%, 4.94%, and 7.90% in groups I, II, III, IV, and V, respectively, compared to 13.51% in the control group. There were no significant differences in the mean weight of alive fetuses in all five groups compared to the control group (0.63 ± 0.12). Group IV showed the lowest orafacial cleft occurrence of 3.20% (8 fetuses) with statistical significance (p = 0.0048) out of 268 live fetuses, whereas the control group had the occurrence of 8.75% (42 fetuses) among 480 live fetuses. Our study showed that the dried licorice root extract may reduce orofacial birth defects in experimental animal studies.

Folate and vitamin B₁₂ deficiencies have been strongly associated with neural tube defects, preliminary research suggests folate and B₁₂ deficiency may also be associated with autism spectrum disorder (ASD). We examined the association between neural tube defects and ASD as a further avenue to examine the hypothesis that ASD is related to maternal folate and B₁₂ deficiency during pregnancy. A retrospective case–control study was performed using the Military Health System Data Repository. Cases and matched controls were followed from birth until at least 6 months after their first autism diagnosis. International Classification of Diseases, 9th Revision, codes were used to identify neural tube defects in the health records. A total of 8760 cases between the ages of 2 and 18 years were identified. The prevalence of any neural tube defect was 0.11% in children without ASD and 0.64% in children with ASD. Children with autism were over 6 times as likely to have a neural tube defect. The increased odds of neural tube defect in children diagnosed with ASD, found through our methodology, supports prior studies. Although additional studies are needed to elucidate the relationship between ASD and maternal folate and vitamin B₁₂ deficiency during pregnancy this study supports their use during pregnancy.

We evaluated the differences in demographic characteristics of patients with and without underlying crossing renal vessels (CRVs) operated for unilateral symptomatic ureteropelvic junction obstruction (UPJO). We identified the features of patients who had undergone open, laparoscopic and robotically assisted laparoscopic pyeloplasty at our institution from July 2000 to January 2021. The ratio of renal parenchymal thickness (RPT; ratio between the kidney with UPJO and the healthy kidney), pelvic diameter and kidney functions were recorded. A total of 641 patients were operated for UPJO; 448 were male (69.8%) and 193 (30.1%) were female; 257 had right-side (40%) and 384 (60%) left-side disease. Fifty-eight patients (9%) were found to have CRV (operated on to treat CRV). The age at diagnosis was 6.51 ± 5.09 years in the CRV (+) group and 1.82 ± 1.37 years in the CRV (−) (p < 0.001). The age at surgery was 8.00 ± 4.71 and 4.27 ± 3.54 years, respectively (p < 0.001). At the time of diagnosis, the RPT measurement was significantly better in CRV (+) compared to CRV (−) group (0.71 ± 0.2 vs. 0.64 ± 0.23, p = 0.043) and initial renal functions were 45.53 ± 8.99% and 42.99 ± 11.65% in CRV (+) and (−) groups respectively. At the time of surgery, the RPTs were 0.60 ± 0.24 and 0.63 ± 0.21 in CRV (+) and (−) groups and these values were also correlated with split renal functions (36.28 ± 15.81% and 41.80 ± 14.26%, respectively). Renal functions were significantly decreased in CRV (+) group (p = 0.027). Significant parenchymal improvements were noted during the first postoperative year. The RPTs were 0.71 ± 0.2 and 0.77 ± 0.19 in the CRV (+) and CRV (−) groups, respectively (p = 0.27) in that time; the improvements continued to increase to postoperative third year (0.74 ± 0.20 and 0.78 ± 0.19 respectively; p = 0.939). In patients with CRVs, renal functions seemed to be preserved in the early stages, however it should be kept in mind that sudden obstruction and loss of kidney function might develop in the follow up period.

When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism. Nanopore long-read sequencing was shown to be useful in elucidating the exact genetic etiology of patients with nonspecific clinical findings.