Congenital Anomalies

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...

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...

An early diagnosis and intervention for congenital cytomegalovirus infection can reduce long-term disability; however, the introduction of universal neonatal screening has been controversial worldwide. The present study clarified the outcome of a targeted screening protocol for detecting congenital cytomegalovirus infection based on suggestive perinatal conditions. In addition, the positive rate was compared to those from the reported studies and the validity of the targeted screening criteria was discussed...

Immunohistochemical staining patterns of markers for neurogenesis staging were compared at the identical stage of cerebellar histogenesis between ferrets (aged 20 days) and mice (aged 10 days). Proliferating cell nuclear antigen (PCNA) immunostaining was observed largely in the granular precursors of the external granular layer (EGL) in both ferrets and mice. PCNA-immunostaining was also found in brain lipid-binding protein-immunopositive cells in the internal granular layer and was more abundant in ferrets than in mice...

Congenital laryngeal webs are rare and defined as a thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site of involvement, with possible extension to the subglottic region. The association with chromosome 22q11.2 deletion syndrome has been reported. Symptoms are abnormal/absent cry and airway obstruction since birth. Management strategies range from endoscopic division with cold instruments to open surgery for severe webbing. In case of endoscopic surgery, the need of tubeless anaesthesia and spontaneous breathing is fundamental to obtain the best surgical outcome...

No abstract text is available yet for this article.

In patients with clefts, the affection of other congenital malformations on the feeding is unclear. We investigated the other congenital malformations and nutritional intake of neonates with cleft lip and/or palate and examined their relationships associated with cleft type and laterality. The participants included 126 infants under treatment with a presurgical naso-alveolar molding (PNAM) or a Hotz-type plate. The survey items were gender, cleft type and side, presence and nature of other congenital malformations, birth weight and nutritional method at age of the fifth day...

We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases from seven pregnancies were included in the study. All fetuses had complete type of ectopia cordis and pentalogy of Cantrell...

Advances in science and technology result in continuous upgrading of the medical and clinical fields. These upgrades have been beneficial to many patients suffering from congenital and developmental diseases causing compromised functionality as well as the structural integrity of the affected organs. One such congenital anomaly is the microtia-anotia spectrum that results in deformities of the external ear, affecting the hearing capability of an individual. The collaboration and integration of electronics in human biology are exemplified by the development of 3D printed cyborg bionic ear from the patient's own cells, which is implanted to ameliorate microtia and improve the patient's hearing capacity...

No abstract text is available yet for this article.

mRNA expression of molecules related to the activity of nitric oxide or prostaglandin E2, the critical regulators maintaining the ductus arteriosus patency, was examined in rat ductus arteriosus at preterm (days 18.5 and 19.5 of pregnancy) and near term (days 20.5 and 21.5). The endothelial nitric oxide synthase mRNA level increased transiently at preterm and then decreased at near term. The cyclooxygenase 2 mRNA increased gradually from near-term to the term complementary to the reduced endothelial nitric oxide synthase mRNA...

Müllerian ducts give rise to the oviducts, uterus, cervix, and vagina. During female reproductive tract development in mice, the bilateral Müllerian duct epithelium grows caudally until reaching the urogenital sinus epithelium. This is followed by further caudal growth with the reduction of the urogenital sinus epithelium. Finally, the vaginal epithelium of adult mice is entirely derived from the Müllerian duct epithelium. Here, we explored the mechanisms underlying mouse vaginal development via cell proliferation, apoptosis, and lineage analyses...

Congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection and is the leading non-genetic cause of sensorineural hearing loss (SNLH) and an important cause of neurodevelopmental disabilities. Auto auditory brainstem response (AABR) is a simple hearing test and used for the purpose of neonatal hearing screening, but can use it for early detection hard of hearing within the study age of the model. We experienced 2 case of asymptomatic cytomegalovirus (CMV) infection in which congenital and late-onset hearing loss were diagnosed early with AABR, and hearing loss improved with valganciclovir (VGCV)...

Organogenesis is a period of fetal development with a special vulnerability to biological and environmental agents. There are some viral infections whose transmission in the first trimester carries a significant risk for the development of congenital anomalies. Although the possibility of vertical transmission of SARS-CoV-2 during pregnancy has been demonstrated, there are no studies evaluating the impact of SARS-CoV-2 infection in the first trimester and its possible association with congenital anomalies. In this communication, we present the case of a pregnant woman with early SARS-CoV-2 infection, prenatally diagnosed with fetal VACTERL association by mid-trimester ultrasound...

No abstract text is available yet for this article.

Patients with cleft lip and palate (CLP) encounter various problems, including disorders related to feeding, esthetics, and pronunciation. We compared two impression methods, conventional impression making and intraoral scanning, to study unilateral cleft lip and palate (UCLP). Patients with UCLP (n=7) were selected, and palatal impressions were taken by two steps: 1) impressions were obtained using an addition silicone rubber impression material, and a plaster model was prepared and 2) optical impressions were obtained using a desktop three-dimensional (3D) scanner and stereolithography (STL)...

Congenital diaphragmatic hernia (CDH) is one of the illnesses with high mortality and morbidity rates. The study aims to compare the Congenital Diaphragmatic Hernia Study Group (CDHSG) model and PCO2 in determining the mortality risk of CDH in the early postnatal period in neonates. The data of 35 patients who were treated CDH were analyzed retrospectively. The sex, gestational age, birth weight, delivery method, presence of chromosomal anomaly, congenital cardiac and other anomalies, pulmonary hypertension, the 5-min Apgar score, PCO2 values of blood gas in the first 24 h, mode of ventilation were recorded...

No abstract text is available yet for this article.

This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children's Study. Among 103,060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi-malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect)...

We aimed to evaluate the fetoscopic procedure indications, procedure-related complications, and neonatal outcomes in cases diagnosed with amniotic band syndrome(ABS). Stage II and III cases according to Hüsler classification were included for fetoscopic surgery. Scissors were used to release the amniotic band in 6 cases, and a diode laser was used in 1 case. A single entry was made in all cases. The majority of the children acquired a functional limb (71.4 %). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (57...