Congenital Anomalies最新文献

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.

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. A total of 2121 newborn infants were admitted to our hospital between October 2018 and October 2021. Cytomegalovirus DNA was examined by the isothermal nucleic acid amplification method for urine samples from newborns with any of the following: microcephaly, abnormal ultrasound findings in the brain and visceral organs, repeated failure in neonatal hearing screening, suspicious maternal cytomegalovirus infection during pregnancy, and other abnormal findings suggestive of congenital cytomegalovirus infection. Among 2121 newborns, 102 (4.8%) were subject to the urine cytomegalovirus DNA test based on the abovementioned criteria. Of them, three were cytomegalovirus DNA-positive. According to the protocol, the cytomegalovirus DNA-positive rates were 0.14% among the total enrollment of 2121 newborns and 2.9% (3/102) among the targeted newborns. This protocol may overlook congenital cytomegalovirus infection that is asymptomatic or exhibits inapparent clinical manifestations only at birth; however, it is feasible and helps lead to the diagnosis of congenital cytomegalovirus infection that may otherwise be overlooked.

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. Paired box 6 immunostaining appeared largely in the EGL granular precursors in mice, whereas it emerged in the migrating/differentiating granular precursors in ferrets. These findings revealed that the types and neurogenesis stages of the EGL granular precursors detected by immunohistochemical markers differed between ferrets and mice.

Congenital laryngeal webs are rare and are defined as 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 also been reported. Symptoms have been abnormal or absent crying and airway obstruction since birth. Management strategies range from endoscopic division using cold instruments to open surgery for severe webbing. In endoscopic surgery, the need for tubeless anesthesia and spontaneous breathing is fundamental for obtaining the best surgical outcome. Here, we describe the case of a 4-month-old female patient affected by a type II glottic web according to Cohen, who was treated by simple endoscopic division in spontaneous breathing.

As noted in a review paper,¹ a large-scale study revealed that approximately 1.1%–3.8% of all children with Down syndrome (DS) are born with mosaic DS.^{2, 3} DS is diagnosed postnatally by chromosome G-banding analysis of peripheral blood cultures, and most patients do not undergo subsequent repeat analysis. We present secular changes in the mosaic ratio of six patients with mosaic DS. The G-banding, chromosome 21 fluorescence in situ hybridization (chr21 FISH) from peripheral blood cultures and the chr21 FISH analysis of uncultured blood cells showed a drastic reduction in the mosaic ratio in five patients aged between 7 and 23 years. The mosaic ratio of a child aged 3 years and 3 months gradually, but not drastically, decreased over time. However, no decrease in the mosaic ratio was seen in the buccal mucosa or fibroblasts by chr21 FISH in any mosaic patient.

Low-invasive chromosomal analyses of 100 cells per patient from different tissues were performed by SRL, Inc. The analyses were as follows (Table 1). (1) T lymphocyte chromosome analyses of cultured peripheral blood samples by PHA (phytohemagglutinin) stimulation, including (1-a) G-banding and (1-b) chr21 FISH analysis using chromosome 21q22.13-q22.2 probes (Vysis, Abbott Molecular); (2) chr21 FISH analysis of uncultured blood cells, including various leukocytes, instead of bone marrow puncture; (3) chr21 FISH analysis of epithelial cells from the buccal mucosa; and (4) chr21 FISH analysis of fibroblasts cultured from a tooth extraction.

The six patients (A–F) with mosaic DS (five females and one male) were aged from 3 years and 3 months to 23 years (Table 1). Five patients (B–F) aged between 7 and 23 years showed drastically decreased mosaic ratios (1%–8%) by G-banding, and FISH analysis of the peripheral blood culture and of uncultured blood cells compared with the postnatal result (Table 1, the red font). Patient A showed a gradual decrease in mosaicism on G-banding and FISH of the peripheral blood culture and by FISH analysis of uncultured blood cells at 11 months, 2 years and 9 months, and 3 years and 3 months of age compared with the postnatal result (Table 1, the red font). However, none of the six patients showed a decreased mosaic ratio in the buccal mucosa analysis or tooth-extraction-derived-fibroblast FISH analysis.

Previously, two reports documented a decreased mosaic ratio in mosaic DS patients during early childhood, mainly in peripheral blood cultures.^{4, 5} We studied longitudinal changes in the mosaic ratio of six mosaic DS patients, including young adults. No decrease was observed in the epithelial cells of the buccal mucosa or cultured fibroblasts. The observed secular decrease in the mosaic ratio in cultured and uncultured peripheral blood cells did not appear to be a mechanism of trisomy rescue because six adult patients with standard trisomy 21 and one patient with translocated t

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. Five multiple pregnancies were found, four were twin pregnancies (three dichorionic diamniotic, one monochorionic monoamniotic) and one was triplet (trichorionic triamniotic). In the monochorionic monoamniotic twin pregnancy, both fetuses have pentalogy of Cantrell. Two cases had intracardiac structural defects including Tetralogy of Fallot and hypoplastic right heart syndrome. Three pregnancies were terminated, four cases delivered alive could not survive beyond the neonatal period. The striking feature in our study is its association with multiple pregnancies.

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. The number of infants was 36 (28.6%) of cleft lip and alveolus, 82 (65.1%) of cleft lip and palate, and 8 (6.3%) of cleft palate only. Forty-three patients (34.1%) had other various congenital malformations. The nutritional method included oral intake in 78.6% (n = 99) of cases and tube feeding with/without oral intake in 21.4% (n = 27) of cases. The rate of tube feeding was higher for right-sided clefts than that for left-sided clefts. This observation was consistent with the fact that right-sided clefts were associated with more significant other congenital malformations than those on the left-side. The nutritional method for infants with cleft lip and/or palate was related to the presence of other congenital malformations, not to cleft laterality or oral cleft itself under early treatment with PNAM plate. These results proposed that screening the general condition is essential for neonates with right-sided cleft lip with/without cleft palate compared to left-sided clefts, which should be conducted immediately after birth for planning the appropriate nutritional method.