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Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of malformations and constitute the leading cause of end-stage kidney disease (ESKD) in childhood. Despite extensive research, a monogenic cause is identified in only ~10% of cases, while variable penetrance and expressivity suggest a more complex disease mechanism. Epigenetic and environmental factors have also been implicated, further complicating efforts to elucidate the etiology of these anomalies. Whole exome sequencing (WES) was performed in 47 individuals with isolated, non-syndromic congenital renal parenchymal anomalies. Variants in four genes (BBS1, PKHD1, XPNPEP3, and KCTD1) were identified, each of which has an established role in nephrogenesis and is implicated in syndromic disorders in which CAKUT can occur as part of the clinical spectrum. In addition, a variant in GREB1L was detected, a gene previously associated with CAKUT. The WES analysis identified candidate variants in 10.6% of patients, consistent with diagnostic yields reported in comparable CAKUT studies. The genes harboring variants are involved in key biological processes, including signaling pathways, ciliary function, and mitochondrial biology, supporting their relevance for further investigation. Our findings support WES as a valuable tool for identifying clinically relevant variants and expanding the genetic landscape of CAKUT.

To compare signalment, laboratory, and imaging findings in dogs with intrahepatic portal hypertension (PH) secondary to congenital hepatic disorders or chronic hepatitis (idiopathic or copper associated). This was a multi-institutional retrospective study (January 1, 2013, to August 25, 2024). Dogs were included if they had clinical evidence of PH (multiple portosystemic shunts, peritoneal effusion, or both) and evidence of liver dysfunction. Dogs were classified as having congenital disease or chronic hepatitis causing PH based on blinded review of liver histopathology. Categorical variables were compared with the Fisher exact test. Continuous variables were compared via the Mann-Whitney U test; variables with P < .2 were included in a multivariable model. 39 dogs met inclusion criteria (16 congenital and 23 chronic hepatitis). Dogs with chronic hepatitis were older and had higher serum bilirubin, ALP, and GGT concentrations; lower serum albumin concentrations; and lower platelet counts compared to dogs with congenital disease. Dogs with congenital hepatic disease had lower MCV. Age and MCV remained significant on multivariable analysis. Hepatic parenchymal heterogeneity on abdominal ultrasound was reported more frequently in dogs with chronic hepatitis. Liver biopsy remains the gold standard for diagnosing the cause of intrahepatic PH in dogs. However, age, specific clinicopathologic abnormalities, and hepatic ultrasonographic heterogeneity might help clinicians differentiate these conditions when histopathology is unavailable. When liver biopsy is unavailable, clinicians evaluating dogs with PH might use age, MCV, albumin, platelet count, cholestatic enzyme activities, and hepatic ultrasonographic echotexture to prioritize congenital versus chronic hepatitis etiologies and guide prognostic counseling.

This study aimed to investigate the reporting association between aspirin use and pregnancy-related adverse events (AEs), and to explore potential disproportionality signals for congenital disorders. A disproportionality analysis was performed using the Food and Drug Administration Adverse Event Reporting System data from Q1 2004 to Q3 2024. Four statistical approaches were applied: reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network, and empirical Bayesian geometric mean (EBGM). In addition, 2 sensitivity analyses were performed to verify the robustness of the results by excluding certain confounders. The analysis identified 1647 reports documenting aspirin-associated AEs related to pregnancy and congenital disorders. Eighty-nine high-level term signals were detected, including 19 significant disproportionality signals, with the strongest signals in each category being "fetal growth complications" (n&#x2005;=&#x2005;139, ROR&#x2005;=&#x2005;9.89, PRR&#x2005;=&#x2005;9.88, EBGM&#x2005;=&#x2005;9.67, information component&#x2005;=&#x2005;3.27) and "vascular anomalies congenital NEC" (n&#x2005;=&#x2005;282, ROR&#x2005;=&#x2005;39.68, PRR&#x2005;=&#x2005;39.6, EBGM&#x2005;=&#x2005;36.10, information component&#x2005;=&#x2005;5.17). At the preferred term level, 269 signals were identified, with 47 significant disproportionality signals. The strongest signals in their respective categories were peripartum hemorrhage (n&#x2005;=&#x2005;3, ROR&#x2005;=&#x2005;41.11) and cyclopia (n&#x2005;=&#x2005;5, ROR&#x2005;=&#x2005;662.32). Sensitivity analyses, including adjustments for healthcare professional reports and the exclusion of patients with hypertension or gestational hypertension, confirmed the robustness of these signals. In conclusion, this large-scale pharmacovigilance study identified significant disproportionality signals for several pregnancy-related AEs and congenital disorders reported with aspirin use. While these findings provide preliminary signals for further investigation, they cannot establish causality. Clinical decisions should continue to be guided by established guidelines and evidence from randomized controlled trials.

Congenital bronchoesophageal fistula (BEF) is a rare communicating bronchopulmonary foregut malformation (CBPFM) characterized by an abnormal connection between the esophagus and a bronchial segment or lung tissue. While esophageal atresia (EA), with or without tracheoesophageal fistula, occurs in approximately 2-3 per 10,000 live births, EA associated with CBPFM/congenital BEF is far rarer, with no established population-based incidence and only several dozen reported CBPFM cases in the literature. Most congenital BEFs present in childhood or adulthood with chronic, nonspecific respiratory symptoms and recurrent infections, whereas neonatal presentations are typically linked to major associated anomalies such as EA. Importantly, complex neonatal constellations-particularly those combining EA with bronchial atresia and a severely hypoplastic, non-aerated lung-may represent an atypical CBPFM variant that does not fit neatly within traditional BEF classification schemes. We report a premature Arab female infant born at 32&#xa0;weeks gestation who presented with respiratory distress, copious oral secretions, and radiographic features of EA with complete right hemithorax opacification and mediastinal shift to the right on a chest X-ray (CXR). After initial stabilization, a gastrostomy tube was inserted. Contrast studies via the gastrostomy tube and computed tomography angiography (CTA) revealed EA with a fistulous communication between the distal esophagus and right bronchial structures, along with a severely hypoplastic right lung. On day 33 of life, the patient underwent surgery. Intraoperative findings confirmed a fistula between the atretic right main bronchus and the lower esophagus, with a nonfunctioning right lung. Definitive EA repair and right pneumonectomy were performed. Histopathology revealed bronchial atresia involving the right main bronchus with right pulmonary hypoplasia. The postoperative course was complicated by pneumothorax, pneumomediastinum, sepsis, and persistent anastomotic leakage, and was managed conservatively with drainage, antimicrobial/antifungal therapy, and prolonged total parenteral nutrition. Serial contrast studies confirmed gradual leak resolution, and oral feeding was started by postoperative day 87. On follow-up, the infant initially maintained oxygen saturation and stable vital signs in room air without respiratory support; however, feeding advancement was complicated by recurrent vomiting and suspected delayed gastric emptying/gastroparesis. Despite combined parenteral and enteral nutrition and a trial of continuous orogastric tube feeding, the infant later developed severe septic shock requiring intravenous antibiotics and ventilatory support. The septic shock was refractory, and the patient died at 5&#xa0;months of chronological age, corresponding to approximately 3&#xa0;months corrected age. This case represents an atypical congenital BEF variant in which EA coexists with a distal esophageal fistula to an atretic right main bronchus and a severely hypoplastic, non-aerated right lung, highlighting a classification-challenging phenotype. It underscores the crucial role of early targeted imaging in neonates with suspected EA and unilateral lung hypoplasia/atresia. Advanced imaging enables accurate diagnosis and guides surgical planning, while the fatal follow-up course highlights the clinical vulnerability of these patients and the need for careful long-term multidisciplinary monitoring.

Background: Congenital spinal deformities associated with multiple vertebral anomalies often require surgical correction during growth; however, the relationship between age at initial surgery and cumulative treatment burden remains insufficiently characterized. Objective: To evaluate whether age at first surgery is associated with surgical burden and radiographic outcomes in children with congenital spinal deformity treated with conventional posterior instrumented fusion. Methods: In this retrospective single-center cohort study, 32 children treated between 2019 and 2024 were stratified by age at initial surgery into two groups: &#x2264;6 years (n = 13) and 7-12 years (n = 19). Planned staged procedures and growth-friendly techniques were excluded. Surgical burden was assessed as the total number of procedures, procedures per patient-year, and high surgical burden, defined as &#x2265;3 procedures. Radiographic outcomes included postoperative Cobb angle and correction percentage. Adjusted analyses were performed using Poisson regression with log follow-up as an offset term, logistic regression, and linear regression. Results: Baseline deformity severity was similar between groups (mean preoperative Cobb angle, 45.2 &#xb1; 19.0&#xb0; vs. 43.1 &#xb1; 21.6&#xb0;; p = 0.61). Both groups showed significant within-group improvement after surgery (p < 0.001), with no significant between-group difference in correction percentage (61.5 &#xb1; 35.2% vs. 64.8 &#xb1; 30.6%; p = 0.78). The total number of procedures and procedures per patient-year were also comparable between groups (p = 0.21 and p = 0.58, respectively). However, high surgical burden was more frequent in the younger group (38.5% vs. 10.5%; p = 0.048). In adjusted analysis, older age at first surgery was associated with lower odds of high surgical burden (OR = 0.78; 95% CI: 0.61-0.99; p = 0.042), whereas no variable independently predicted correction percentage. Conclusions: Younger age at initial surgery was associated with a greater likelihood of high surgical burden, whereas the time-adjusted operation rate and early coronal correction were similar between groups.

Background and Objectives: Syndactyly is a common congenital hand anomaly that may affect hand appearance, function, and psychosocial well-being. This study aimed to evaluate long-term patient-centered outcomes after congenital syndactyly reconstruction, including aesthetic, functional, and psychosocial domains. Methods: This retrospective study included 53 patients with 90 reconstructed web spaces. Aesthetic outcomes were assessed using the Withey score, functional outcomes using the QuickDASH questionnaire, and psychosocial outcomes using an exploratory patient-centered survey developed by the authors. Results: The median follow-up duration was 10 years. The median outcome scores suggested generally favorable long-term results, with a Withey score of 2, a QuickDASH score of 14, and a psychosocial survey score of 29, all within the favorable range of their respective scales. Poorer aesthetic outcomes were observed in patients with complicated syndactyly, those who underwent surgery between 1 and 5 years of age, and those who underwent multiple surgeries. Female sex was associated with poorer functional and psychosocial scores. Complicated syndactyly was associated with less favorable outcomes across all domains. The psychosocial survey demonstrated high internal consistency and significant correlations with both functional and aesthetic outcomes. Conclusions: Congenital syndactyly reconstruction was associated with generally favorable long-term patient-centered outcomes. Less favorable results were observed particularly in patients with complicated syndactyly, while age- and surgery-related associations should be interpreted cautiously because of the retrospective design. These findings support the importance of individualized counseling and long-term assessment that includes aesthetic, functional, and psychosocial dimensions.

Background and Objective: Heart failure (HF) is a major cause of morbidity in adults with congenital heart disease (ACHD), who may also have limited access to transplant. Intermittent levosimendan administration has shown benefit in advanced HF due to acquired heart disease, but currently, there are no data on ACHD. We aimed to evaluate the effects of this treatment in ACHD patients with advanced heart failure, focusing on both clinical status and objective outcome measures. Materials and Methods: We conducted a single-center retrospective analysis of ACHD patients aged >18 years with advanced HF who received &#x2265; three intermittent levosimendan infusions (either 12.5 mg once monthly or 6.25 mg every two weeks over a 6 h infusion) between March 2020 and January 2025 at a tertiary ACHD center. Clinical outcomes during follow-up were compared with those in the year preceding treatment. Primary endpoints included safety and HF-related adverse events, particularly HF hospitalizations. Secondary endpoints included changes in New York Heart Association (NYHA) class, nt-pro-B-natriuretic peptide (nt-proBNP) values, and ventricular systolic function assessed by echocardiography. Results: Twelve patients (median age 44.6 years, 25% female) were included, with heterogeneous congenital diagnoses and advanced HF. Five patients had a systemic right ventricle (sRV) and one had a single ventricle with previous Fontan palliation. During a median follow-up of 1.3 years, intermittent levosimendan was well-tolerated, with no treatment-limiting adverse events. Two patients (16%) required hospitalization for HF during follow-up compared with 8 (66%) in the year preceding treatment. The incidence of HF hospitalizations decreased from 0.83 to 0.20 events per person-year during follow-up (p = 0.03), although findings should be interpreted cautiously given the small sample size and retrospective design. NYHA functional class improved significantly (p = 0.005). While no significant changes were observed in NT-proBNP or left ventricular ejection fraction, patients with a systemic right ventricle (sRV) showed an increase in right ventricular fractional area change (27 &#xb1; 7.4% to 30.6 &#xb1; 7%, p = 0.02); however, this observation should be regarded as exploratory given the limited sample size. Two deaths occurred, consistent with the severity of the underlying disease and not directly attributable to levosimendan and the Fontan patient received a successful heart and liver transplant. Conclusions: In a small, real-world cohort of ACHD and advanced HF, intermittent levosimendan administration was safe and associated with improved symptoms, reduced HF hospitalizations, and signals of enhanced systemic right ventricular function. These hypothesis-generating findings may help inform future multicenter studies in ACHD patients with advanced HF, suggesting a potential role for intermittent levosimendan in selected patients, while highlighting the need for prospective, adequately powered studies to confirm its efficacy and better define optimal patient selection.

Craniofacial skeletal morphogenesis depends on tightly coordinated interactions between vascular development and osteogenesis. Although congenital craniofacial malformations are traditionally conceptualized as bone-intrinsic disorders, emerging molecular evidence suggests that dysregulated vascular pathways may contribute to skeletal maldevelopment. Here, we synthesize emerging experimental and genetic evidence linking perturbations in vascular development to congenital craniofacial osseous phenotypes. A structured literature search was conducted in PubMed and Embase to identify experimental and genetic studies investigating developmental and vascular associations between vascular dysgenesis and craniofacial bone development. Six studies met the inclusion criteria. Within these studies, vascular dysgenesis was implicated in multiple craniofacial phenotypes. Hemifacial microsomia was linked to mandibular arterial abnormalities and susceptibility loci associated with vasculogenesis. Alagille syndrome demonstrated disrupted palatal vascular branching driven by Jagged1-Notch signalling perturbation. Across models, altered regulation of VEGF isoforms, Neuropilin-1, Jagged1-Notch signalling, and EPAS1-associated pathways impaired pharyngeal arch vascular remodelling, mandibular arterial stability, or vascular branching architecture. These vascular disturbances were associated with phenotypes including micrognathia, cleft palate, hemifacial microsomia, and 22q11.2 deletion syndrome-like features. In contrast, conditions including achondroplasia and cleidocranial dysplasia appear predominantly driven by bone-intrinsic mechanisms without demonstrated vascular involvement. Collectively, the available evidence suggests emerging developmental associations between dysregulated vascular signalling and craniofacial osteogenesis through a potential vascular-osteogenic interface. Although the temporal hierarchy, causality, and lineage-specific mechanisms remain unresolved, recognition of this interface provides a conceptual developmental perspective for future experimental studies investigating endothelial-osteogenic interactions during craniofacial morphogenesis.

Chromosomal microarray analysis (CMA) is widely used to detect chromosomal aneuploidies and copy number variants (CNVs) in pediatric patients with congenital anomalies or developmental concerns. However, its diagnostic utility in critically ill neonates and children admitted to intensive care units (ICUs) remains undercharacterized. We conducted a retrospective review of 679 patients admitted to the neonatal, pediatric, or cardiovascular intensive care units (NICU, PICU, CVICU) at Phoenix Children's Hospital between 2019 and 2024 who underwent CMA. Demographic data, clinical indications, and CMA results were extracted from electronic medical records to assess diagnostic yield and variant patterns. CMA identified a clinically relevant finding in 102 of 679 patients, resulting in an overall diagnostic yield of 15.0% (95% CI: 12.3-17.7%). Clinically relevant findings included pathogenic (P) variants (n = 88), likely pathogenic (LP) variants (n = 12), and large regions of absence of heterozygosity (AOH) consistent with uniparental disomy (UPD) (n = 2). A variant of uncertain significance (VUS) was detected in 139 patients (20.5%). Among the pathogenic and likely pathogenic variants, CMA identified recurrent CNVs (n = 49), nonrecurrent CNVs (n = 17), aneuploidies (n = 22), and patients with two pathogenic or likely pathogenic CNVs (n = 10). Diagnostic yields of 48.4% (95% CI: 38.5-58.4%) and 8.4% (95% CI: 6.0-11.5%) were observed in patients with single or multiple congenital anomalies including a congenital heart defect (CA + CHD), and in patients with an isolated CHD, respectively. CMA demonstrates significant diagnostic value in critically ill neonates and children, particularly among those with multisystem congenital anomalies. These findings support the routine integration of CMA in genomic evaluation protocols for ICU populations to guide diagnosis, management, and counseling.

Infants with congenital diaphragmatic hernia (CDH) are at increased risk of neuroimaging abnormalities and neurodevelopmental impairment. There is no standardized neuroimaging scoring system in this patient population. Our objective was to develop a novel Neonatal Brain Injury Score (NBIS) and evaluate its association with neurodevelopmental outcomes. We conducted a retrospective observational study using data from a quaternary single-center clinical registry. Patients with CDH born between 2013 and 2021 without a chromosomal abnormality were included. The NBIS was developed to capture neuroimaging findings seen in critically ill infants, such as patients with CDH. Neurodevelopment was assessed with the Bayley Scales of Infant and Todder Development, 3rd or 4th editions (Bayley) at a mean age of 20-21 months. Relationships between the NBIS and Bayley scores were assessed at latest follow-up visit using linear regression models and longitudinal follow-up visits using linear mixed models. Models were adjusted for age at brain magnetic resonance imaging, treatment with extracorporeal membrane oxygenation, and CDH severity. Two hundred twenty-three infants met eligibility criteria. The majority (69%) had an abnormal NBIS (median 2 [0, 5]; range 0-29 out of 100). A higher NBIS was associated with lower Bayley scores at the latest follow-up visit and longitudinally over time. We developed a novel NBIS that was significantly associated with neurodevelopmental outcomes in the CDH population.

Introduction: Obstructed HemiVagina and Ipsilateral Renal Anomaly (OHVIRA) syndrome, also known as Herlyn-Werner-Wunderlich syndrome, is a rare congenital M&#xfc;llerian duct anomaly, characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Symptoms typically appear shortly after menarche and include dysmenorrhea and pelvic pain. The psychological burden associated with fertility and reproductive outcomes in women with OHVIRA syndrome remains poorly investigated. Materials and methods: A 30-year-old primigravida with left renal agenesis and a history of vaginal abscess, dysmenorrhea, and chronic pelvic pain received a delayed OHVIRA syndrome diagnosis. The patient had previously been informed that spontaneous conception and an uncomplicated pregnancy were highly unlikely because of her congenital gynecological condition, resulting in significant fertility-related anxiety and psychological distress. Under careful supervision and counseling, she conceived successfully, and the pregnancy progressed without complications; an elective cesarean section was performed at term. A literature search using the PubMed and Embase databases was conducted between November 2025 to April 2026 to identify studies reporting reproductive outcomes and psychological aspects in patients diagnosed with OHVIRA syndrome and other M&#xfc;llerian anomalies. Results: Evidence-based counseling contributed to improvement of quality of life and reduction of pregnancy-related anxiety of the reported patient with OHVIRA syndrome. A limited number of studies discuss the mental burden and fertility-related anxiety of patients with OHVIRA syndrome and other M&#xfc;llerian anomalies. Conclusions: Spontaneous conception and uncomplicated pregnancy are possible for women with OHVIRA syndrome. The psychological burden associated with congenital gynecological conditions remains under-recognized and requires further investigation. Comprehensive counseling and interdisciplinary care are essential to improve reproductive education, mental health support, and pregnancy outcomes in patients with congenital gynecological anomalies.

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Over 2.3&#xa0;million neonatal deaths occurred globally in 2022, representing 1 in 58 newborns, with neonatal deaths of about 6,300 every day. Of these, 73% died in the early neonatal period and one third within 24&#xa0;h. Despite the 47% globally neonatal deaths decline from 2000 to 2015, Zambia's perinatal and neonatal mortality rates have remained high at 33 and 27 per 1000 total births, respectively. This study aimed to determine the aetiology of early neonatal deaths and to analyse survival time and mortality predictors among normal and low birthweight early neonates in the neonatal intensive care units at two tertiary hospitals of Lusaka, Zambia. A prospective cohort study was conducted involving neonatal deaths that occurred in the neonatal intensive care units at the Women Newborn Hospital (WNH) and Levy Mwanawasa Teaching Hospital (LMUTH) tertiary hospitals of Lusaka, Zambia from September 1, 2023 to January 30, 2024. Data were analysed using SPSS Version 30. Associations with death were studied using Chi square and Fischer's exact tests. Descriptive statistics were used to summarise frequency distributions, and cox proportional hazard regression to analyze predictors of early neonatal deaths and survival time. Among the 404 participants, prematurity, sepsis, birth asphyxia and congenital anomalies were notable causes of death. A total of 62 neonates (42.5%) died within the first 30&#xa0;min of admission, while 224 (58.8%) died within 1.5&#xa0;h of arrival. Predictors of shorter neonatal survivor included maternal age&#x2009;>&#x2009;35 AHR 5.70 (95% CI: 1.41-23.10, p&#x2009;<&#x2009;0.015), foetal seizures AHR 1.81 (95% CI: 1.33-2.46, p&#x2009;<&#x2009;0.0001), ANC booking had strong association with birthweight (p&#x2009;=&#x2009;0.001) but was not in the adjusted model. and Rhesus negative 10 (2.5%) AHR 4.48 (95% CI: 1.58-12.70, p&#x2009;<&#x2009;0.005). Low birthweight babies had AHR 1.95 (1.33-2.86, p&#x2009;<&#x2009;0.001), walking and use of public transport to hospital had AHR 4.99 (95% CI: 1.07-23.28, p&#x2009;<&#x2009;0.041) and 4.24 (95% CI: 1.10-16.36, p&#x2009;<&#x2009;0.036), respectively and foetal anomalies AHR 2.48 (95% CI: 1.25-4.94, p&#x2009;<&#x2009;0.010). Almost 60% of early neonatal deaths occurred within 1.5&#xa0;h of admission, with the majority (42%) having been within 30&#xa0;min. Major causes of death included prematurity, sepsis, birth asphyxia, and congenital anomalies. Predictors to shorter survival time highlight critical areas that need attention. There is need to strengthen health promotion on the importance of early antenatal booking. This will enhance early detection of disease, targeted interventions to manage of high-risk pregnancies and access to comprehensive emergency obstetrics and neonatal care sites.

Bartter syndrome (BS) is a general term for a group of rare genetic disorders in which the defective kidneys have impaired ability to reabsorb salt, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Prenatal diagnosis of antenatal BS is challenging because of the absence of structural anomalies in the fetus. We here report four cases of antenatal BS identified in utero by fetal exome analysis. A total of four cases of antenatal BS were detected. All cases presented with idiopathic polyhydramnios, with no evidence of anomalies in the fetuses and placentae on serial ultrasounds, and excluding maternal diabetes. Polyhydramnios occurred at 23-24 weeks gestation, and the amniotic fluid volume continued to increase through the gestation in all cases. Premature rupture of membranes occurred at 26 weeks after amniocentesis in the first case and the pregnancy was terminated. In the second case, the pregnancy continued to near term after five amnioreductions performed at 25, 27, 29, 31 and 34 weeks respectively. Preterm labor occurred at 27 weeks in the third case, and the infant died at life of day 2. In the fourth case, the pregnancy continued to 30 weeks despite two amnioreductions done at 27 and 29 weeks, and the infant survived. Variants were detected in three genes, including SLC12A1, KCNJ1 and BSND, corresponding to type 1, type 2, and type 4A. Early-onset polyhydramnios without evidence of congenital anomalies should raise the clinical suspicion of BS. Prenatal genetic testing should be the option to confirm the diagnosis. Serial amnioreduction is recommended for the management to prevent perinatal complications.

Peripheral precocious puberty (PPP) is a rare condition in early childhood, particularly among girls under 3 years of age. One cause of PPP is functional ovarian cysts that secrete estrogen at levels sufficient to trigger the development of premature secondary sexual characteristics. Unilateral ovarian agenesis is an uncommon congenital anomaly. The coexistence of both conditions in a single patient is extremely rare and poses unique diagnostic and management challenges. We report the case of a 2-year and 10-month-old girl presenting with concurrent breast development, pubarche, and recurrent vaginal bleeding. Pelvic imaging revealed a cyst in the left ovary and agenesis of the right ovary. Laparoscopy confirmed absence of the right ovary and ipsilateral fallopian tube. Based on clinical, hormonal, and radiologic findings, a diagnosis of PPP due to a functional ovarian cyst was made. Given the rapid progression of symptoms, increase in cyst size, and concern for torsion, a short observation period of three months was followed by ovarian-preserving laparoscopic cystectomy. Histopathology confirmed a benign follicular cyst. Postoperatively, the patient experienced partial regression of pubertal signs and complete resolution of vaginal bleeding. This case highlights the importance of individualized decision-making in managing PPP,especially in the presence of congenital anomalies.

Prenatal detection of fetal anomalies creates significant emotional and decision-making challenges for expectant parents. International research has described shock, uncertainty, and distress following diagnosis, yet little is known about how such experiences unfold within Chinese cultural and family contexts. Family authority, lineage expectations, and concerns about stigma may shape how parents interpret the diagnosis and negotiate reproductive choices. Evidence remains limited regarding how Chinese couples experience emotional disruption, navigate family involvement, and make sense of the diagnosis during a period marked by uncertainty and moral pressure. This study sought to address this gap by exploring the lived experiences of Chinese couples following detection of a suspected or confirmed fetal anomaly. The qualitative phenomenological study employed Moustakas' transcendental phenomenology(TP) and Ajzen's Theory of Planned Behavior(TPB). Conducted in Suzhou City, situated in the Yangtze River Delta region of Eastern China, the research spanned from November 21, 2024, to February 15, 2025. The participants were 30 couples who had experienced prenatal anomaly detection in the past 12 months. Analysis identified five themes that described how couples experienced emotional rupture, cultural pressure, and relational strain after receiving a prenatal anomaly diagnosis. Parents reported an abrupt loss of their anticipated future, marked by shock, temporal disruption, and efforts to regain a sense of control. Decision-making occurred within a landscape shaped by moral tension, clinical uncertainty, and unequal options. Cultural expectations related to filial piety, lineage, and family reputation influenced how parents interpreted the diagnosis and negotiated reproductive choices. Family and clinical support played complex roles by offering stability for some and creating additional pressure for others. The diagnosis also reshaped couple relationships, strengthening some bonds while exposing significant strain in others. Chinese couples experiencing potential fetal congenital anomalies undergo intense emotions and employ various coping strategies. Their decisions are influenced by medical advice, cultural influences, and the availability of resources. By integrating the TP and TPB, this study examines their experiences and decision-making processes, emphasizing the need for culturally tailored support and counseling that respects their emotional and cultural contexts.

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare connective tissue disorder characterized by severe joint hypermobility, congenital hip dislocation, skin hyperextensibility, and muscle hypotonia. It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping. Autosomal recessive forms are extremely rare and have been reported predominantly in families from Saudi Arabia carrying the homozygous COL1A1 missense variant c.2050G>A, p.(Glu684Lys), with clinical presentations ranging from severe to mild. Clinical and molecular genetic evaluation of the patient was performed. Whole-exome sequencing was carried out, followed by confirmatory Sanger sequencing in the proband and both parents. A 10-month-old boy presented with severe congenital hypotonia, bilateral hip dislocation, generalized joint hypermobility, skin hyperextensibility and craniofacial dysmorphism. A homozygous likely pathogenic variant NM_000088.4:c.2050G>A, p.(Glu684Lys) was identified in exon 31 of COL1A1; both healthy parents were confirmed to be heterozygous carriers of this variant. To our knowledge this is the first reported case in the Russian population and one of the few cases described worldwide of an autosomal recessive arthrochalasia-like EDS phenotype. This case further refines the phenotypic characterization associated with the recurrent homozygous COL1A1 p.(Glu684Lys) variant, demonstrating an arthrochalasia-like EDS phenotype of intermediate severity between the severe neonatal form with respiratory distress and recurrent fractures and the classical EDS. It further highlights the importance of considering collagenopathies in the differential diagnosis of congenital hypotonia, particularly in cases initially suggestive of neuromuscular disorders.

Orofacial clefts are among the most common congenital craniofacial anomalies in the world. Immunity factors modulate response, inflammation, and healing in clefted tissue. This study aims to evaluate the levels of the pro-inflammatory biomarkers Granulysin, Resistin, FCGR1A, NF-k&#xdf;p65, and CD68 to describe and understand the morphopathological basis of inflammation. The comparison was done between patient and control samples across milk and mixed dentition age groups. In total, 14 patient samples were analyzed with a total of 10 control samples to form two distinct control groups with milk dentition age and mixed dentition age. Samples were analyzed using light microscopy, and a semi-quantitative method of evaluation and comparison was used to determine the number of immunohistochemically positive structures of patient and control samples. Statistics included Spearman's correlation and Fisher's exact test to compare groups and detect significant differences. NF-k&#xdf;p65 in the milk dentition age group (p = 0.043 for NF-k&#xdf;p65 in connective tissue, p = 0.017 for NF-k&#xdf;p65 in salivary glands), and FCGR1A and CD68 in the mixed dentition age group showed statistically significant differences in the expression of palatal tissues compared to the controls (p = 0.016 for FCGR1A in connective tissue, p = 0.048 for CD68 in epithelium). Spearman's rank correlation revealed eight very strong correlations among several factors and one strong correlation between factors. The presence of many very strong and strong Spearman's correlations among inflammatory factors in cleft-affected individuals suggests heightened signaling in these pathways. Furthermore, the difference in the inflammatory factor expression at different dentition ages suggests variation in the inflammation character with age.

Prenatal exposure to air pollutants has been linked to developmental delays in early childhood. This study investigated the association between prenatal exposure to ambient manganese (Mn) and delays in achieving specific neurodevelopmental milestones. Data were obtained from a nationwide population-based cohort study that recruited children born in 2005 and their mothers. Developmental outcomes were assessed by conducting home interviews at 6 and 18 months of age. Gestational exposure to ambient Mn was estimated using a land-use regression model enhanced with machine learning. Associations between Mn exposure and delayed milestone attainment were evaluated using multivariable logistic regression, adjusting for child, maternal, household factors, and co-exposure to particulate matter and nitrogen dioxide. A total of 17,683 term singleton births without congenital anomalies were included. Mn exposure during mid-gestation showed more consistent associations with later attainment of selected developmental milestones. After adjustment for relevant covariates, each 1&#x202f;ng/m&#xb3;&#x202f;increase in second-trimester Mn exposure was associated with higher odds of delayed gross motor, fine motor, language, and social milestones ("walking with support": adjusted odds ratio [aOR]&#xa0;=&#xa0;1.028; 95% confidence interval [CI]: 1.004-1.053), fine motor skills ("drawing arbitrarily": aOR&#xa0;=&#xa0;1.081; 95% CI: 1.053-1.109), language milestones ("waving goodbye": aOR&#xa0;=&#xa0;1.048; 95% CI: 1.022-1.075; "calling a parent meaningfully": aOR&#xa0;=&#xa0;1.050; 95% CI: 1.021-1.080), and social interaction ("drinking with both hands": aOR&#xa0;=&#xa0;1.045; 95% CI: 1.021-1.071). These findings suggest modest associations between prenatal ambient Mn exposure, particularly during mid-gestation, and early neurodevelopmental timing.