Congenital Anomalies最新文献

Submucous cleft palate (SMCP) is a type of cleft lip and/or palate that is often diagnosed based on speech symptoms caused by velopharyngeal insufficiency and is frequently accompanied by complications. Although both surgery and speech therapy are treatment options, reports vary according to appropriate timing and suitability. At our hospital, patients who opted against surgery underwent speech therapy with positive results. This study aimed to evaluate the progression of velopharyngeal function (VPF) over time in non-operated patients with SMCP to formulate a new treatment approach. Fifty-three patients with SMCP who underwent VPF evaluation and over 1 year of speech therapy at the Cleft Lip and Palate Center of Aichi Gakuin University Dental Hospital between 2002 and 2022 were included. The patients were classified into with-complications and without-complications groups, and data on VPF evaluation, therapy duration, and progress were collected. Twenty patients experienced complications, while 33 did not. In the without-complications group, a significant improvement in VPF was observed after speech therapy. At the lowest VPF, five patients required surgery, but by the final evaluation, all patients experienced improvements, with no case of “poor.” Conservative treatment through long-term speech therapy demonstrated significant improvement in velopharyngeal function for non-complicated SMCP cases, suggesting it as a viable alternative to surgery in selected patients. This study highlights the clinical relevance of conservative speech therapy as a cost-effective, accessible alternative to surgery, particularly in resource-limited settings, offering comparable outcomes in non-complicated SMCP cases and potentially reducing healthcare burdens.

Congenital anomalies pose significant challenges in medicine due to their high morbidity and mortality rates. These anomalies are more prevalent in low- and middle-income countries, where variations exist in intensive care admissions and treatment protocols for critical cases. Our study aimed to investigate the prevalence of congenital anomalies among patients under the age of one admitted to the level III intensive care unit. The study focused on diagnosing anomalies, reasons for intensive care admission, structural analysis, classification based on system involvement, surgical requirements, duration of intensive care stay, and treatment outcomes. A total of 8276 patients were admitted to the intensive care unit of our Pediatric Research Institute between 2019 and 2022. Among them, 1256 patients (15.2%) were diagnosed with congenital anomalies. The majority of infants (73.3%) were admitted within the neonatal period, whereas 21.2% were admitted from 29 days to 6 months and 5.5% between 6 months and 1 year of age. Ultimately, 1084 (86.3%) patients survived, and 172 (13.7%) patients died. Structural analysis of congenital anomalies in a tertiary intensive care unit in Azerbaijan indicated comparable frequencies of anomalies, surgical requirements, and mortality rates to those published in articles from developed countries. Additionally, differences in anomaly distribution among organ systems were observed, with congenital heart defects being more prevalent.

Polydactyly is a congenital anomaly characterized by additional fingers and/or toes, with varying prevalence rates and characteristics across different populations. The current study investigated polydactyly's prevalence and characteristics between January 2015 and December 2022 retrospectively at two tertiary hospitals, one in Riyadh and one in Jeddah, Saudi Arabia. Data on the type and location of polydactyly, together with associated anomalies, were examined. The study identified 176 cases of polydactyly, with the majority (77%) in Riyadh. The average diagnosis was at age 8.9 months; there was a notable male predominance (57%). Over the 8 years examined, the polydactyly prevalence rate among 95 452 Saudi neonates was 97 per 10 000 live births. The occurrence was greater in the upper (49%) than in the lower limbs (33%). Unilateral cases were seen in 47% of hands and 23% of feet, and bilateral cases in 26% of hands and 22% of feet. In addition, the most prevalent form of polydactyly in both hands and feet was postaxial, observed in 34% and 30%, respectively. In contrast, the preaxial type was observed in 15% of hands and 3% of feet. Family history, additional anomalies, and other health conditions were noted in 10%, 45%, and 34% of cases, respectively. The higher occurrence of polydactyly in the hands and its predominant unilateral manifestation, together with its association with familial patterns and specific syndromes, emphasizes the potential interplay between genetic and environmental factors.

Heterozygous loss-of-function variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) cause early-onset developmental and epileptic encephalopathy with multiple congenital anomalies. Limited clinical information is currently available on HNRNPU-related neurodevelopmental disorder. The patient was a 1-year-old Japanese girl with developmental delay, hypotonia, early-onset epilepsy, respiratory distress, and distinctive facial features, including ptosis, epicanthus, a prominent nasal bridge, a wide nasal floor, a cleft soft palate, and micrognathia. Respiratory distress was caused by pharyngeal stenosis and laryngomalacia, which gradually worsened, necessitating a scheduled tracheostomy at 1 year and 7 months of age. We performed whole-exome sequencing and identified a novel de novo nonsense variant in HNRNPU. We herein describe the first case of HNRNPU-related neurodevelopmental disorder with severe airway anomalies and a novel nonsense variant, thereby expanding the phenotypic spectrum

Pregnancy loss is a significant concern worldwide, encompassing miscarriage and stillbirth. Miscarriage, defined as the loss of a baby before 28 weeks of gestation, accounts for approximately 15% of pregnancies. Stillbirth, occurring at or after 28 weeks of gestation, affects nearly 2.0 million pregnancies annually, predominantly in low- and middle-income regions. This study aims to investigate the potential of Anemarrhena rhizome (AR) herbal medicine in mitigating pregnancy loss and reducing the incidence of cleft palate in A/J mice models. A total of 390 6-week-old A/J mice were used for the study. Three different dosages of dried AR (6, 12, and 18 g) were boiled to prepare water extracts. The mice were divided into experimental groups receiving these extracts and a control group. Pregnancy outcomes, including fetal mortality rates and incidence of cleft palate, were assessed. The experimental groups receiving AR herbal medicine demonstrated significantly lower fetal mortality rates compared to the control group. Additionally, the incidence of cleft palate was notably reduced in the experimental groups, with the AR 6 g and AR 12 g groups showing significant reductions compared to the control group. AR herbal medicine shows promise in mitigating pregnancy loss and reducing the incidence of cleft palate in A/J mice models. These findings suggest the potential of AR as a therapeutic agent for improving fetal health outcomes. Further research is warranted to elucidate the underlying mechanisms and optimize dosage strategies for maximizing its therapeutic benefits in pregnancy-related complications.

The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels. Immunohistochemical analysis was conducted using specific markers, such as S100, CD34, CD117, glycophorin-C, and myeloperoxidase, to identify various hematopoietic and mesenchymal cell types. Furthermore, this report underscores the often-overlooked aspect of fetal hematopoiesis in cases diagnosed with TD-1, shedding light on the development of hematopoietic cells and their markers in various tissues, with a particular emphasis on the investigation of bone marrow foci in areas with incipient or no apparent ossification. Immunohistochemical identification of hematopoiesis also served as an indirect way to identify areas of incipient or abnormal ossification.

Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non-mosaic X chromosome structural rearrangements. A systematic literature search was conducted using Medline and Embase classics plus Embase between 1947 and September 2023. A total of 487 Turner women with non-mosaic X chromosome structural rearrangements were included from the 69 studies. The prevalence of short stature was 72.4% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 80.1% in the short arm deletion group (del (Xp)), 75% in the del(X)(p22.3) group, 65.8% in the del(X)(p21) and del(X)(p22) group, and 37.5% (20%–66.7%) in the long arm deletion group (del(Xq)). The prevalence of ovarian dysfunction was 78.8% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 72.5% in the del (Xp) group, 27.6% in the del (X)(p22.3) group, 33.3% in the del (X)(p21) and del(X)(p22) group, and 94.6% in the del (Xq) group. The recognition of X chromosome breakpoints is useful in the management of Turner syndrome complications, since some phenotypes are unique depending on the deletion region. Ovarian dysfunction is significantly related to karyotype, so the identification of karyotypes in Turner syndrome is important for managing ovarian dysfunction and predicting future fertility.

Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case–control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009–2023 at the Hospital Civil de Guadalajara “Dr. Juan I. Menchaca” (Guadalajara, Mexico). Potential parental risk factors for CHDs were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. Consanguinity [adjusted odds ratio (aOR) = 3.3; 95% confidence interval (CI) 1.3–8.5], relatives with CHD (aOR = 8.5; 95% CI 5.3–13.8), maternal first-trimester exposure to diabetes (aOR = 3.5; 95% CI 2.4–5.1), hypertension (aOR = 2.6; 95% CI 1.5–4.4), alcohol consumption (aOR = 1.5; 95% CI 1.0–2.1), and illicit drug use (aOR = 2.4; 95% CI 1.2–5.3), as well as for the paternal history of alcohol consumption (aOR = 1.4; 95% CI 1.0–1.8) and illicit drug use (aOR = 2.7; 95% CI 1.7–4.1), were associated with CHDs. Contrarily, aOR for maternal age ≤19 years (aOR = 0.6; 95% CI 0.4–0.8) and maternal first-trimester coffee consumption (aOR = 0.7; 95% CI 0.5–0.9) have protective odds. Our results suggest that genetic factors, maternal diseases, environmental exposures, and reproductive factors can increase the occurrence of isolated CHDs in our sample, and they are discussed as clues in its pathogenesis.

Sonic hedgehog (Shh) is expressed in the oropharyngeal epithelium, including the frontonasal ectodermal zone (FEZ), which is defined as the boundary between Shh and Fgf8 expression domains in the frontonasal epithelium. To investigate the role of SHH signaling from the oropharyngeal epithelium, we generated mice in which Shh expression is specifically deleted in the oropharyngeal epithelium (Isl1-Cre; Shh^f/f). In the mutant mouse, Shh expression was excised in the oropharyngeal epithelium as well as FEZ and ventral forebrain, consistent with the expression pattern of Isl1. Isl1-Cre; Shh^f/f mice exhibited a complete loss of lower jaw components and a malformed upper jaw with defects in the cranial base and secondary palate. Massive cell death was observed in the mandibular process at embryonic day (E) 9.5 and E10.5, while mild cell death was observed in the lambdoidal region (the fusion area in the maxillary, lateral nasal, and medial nasal processes) at E10.5. An RNA-seq analysis revealed that Satb2, a gene involved in cell survival during jaw formation, was downregulated in the lambdoidal region in Isl1-Cre; Shh^f/f mice. These results suggest that Shh expression in the FEZ is required for cell survival and skeletogenesis in the lambdoidal region during the development of the upper jaw and that the developmental control governed by SHH signaling is different between upper and lower jaws.