Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data.

OBJECTIVE: To explore risk factors for birth defects (including a broad range of specific defects). METHODS: Data were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014-2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis. RESULTS: Our study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10-21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39-1.61), multiple births (OR = 1.44, 95%CI: 1.18-1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19-4.09) or 20-24 (OR = 1.66, 95%CI: 1.42-1.94), maternal age 30-34 (OR = 1.16, 95%CI: 1.04-1.29) or > = 35 (OR = 1.56, 95%CI: 1.33-1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39-3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15-4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14-1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65-3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01-1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55-2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05-4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32-6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10-9.71), 20-24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24-2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11-2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14-2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17-3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24-7.95), 30-34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09-1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14-1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41-2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06-3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19-4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06-3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23-7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54-5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06-3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86-4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60-6.65). CONCLUSION: In summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.

BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. RESULTS: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. CONCLUSIONS: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.

Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.

BACKGROUND: Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear. OBJECTIVE: To assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes. STUDY DESIGN: We retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated. RESULTS: During the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004). CONCLUSIONS: The prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.

Clinical features of plastic bronchitis in children after congenital heart surgery.

BACKGROUND: Plastic bronchitis (PB) can occur in patients who have undergone congenital heart surgery (CHS). This study aimed to investigate the clinical features of PB in children after CHS. METHODS: We conducted a retrospective cohort study using the electronic medical record system. The study population consisted of children diagnosed with PB after bronchoscopy in the cardiac intensive care unit after CHS from May 2016 to October 2021. RESULTS: A total of 68 children after CHS were finally included in the study (32 in the airway abnormalities group and 36 in the right ventricular dysfunction group). All children were examined and treated with fiberoptic bronchoscopy. Pathogens were detected in the bronchoalveolar lavage fluid of 41 children, including 32 cases in the airway abnormalities group and 9 cases in the right ventricular dysfunction group. All patients were treated with antibiotics, corticosteroids (intravenous or oral), and budesonide inhalation suspension. Children with right ventricular dysfunction underwent pharmacological treatment such as reducing pulmonary arterial pressure. Clinical symptoms improved in 64 children, two of whom were treated with veno-arterial extracorporeal membrane oxygenation (ECMO) due to recurrent PB and disease progression. CONCLUSIONS: Children with airway abnormalities or right ventricular dysfunction after CHS should be alerted to the development of PB. Pharmacological treatment such as anti-infection, corticosteroids, or improvement of right ventricular function is the basis of PB treatment, while fiberoptic bronchoscopy is an essential tool for the diagnosis and treatment of PB. ECMO assistance is a vital salvage treatment for recurrent critically ill PB patients.

Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates.

Background: Scleroderma, also referred to as systemic sclerosis, is a multifaceted autoimmune condition characterized by abnormal fibrosis and impaired vascular function. Pathologically, it encompasses the persistent presence of inflammation, abnormal collagen buildup, and restructuring of blood vessels in various organs, resulting in a wide range of clinical symptoms. This review incorporates the most recent scientific literature on scleroderma, with a particular emphasis on its pathophysiology, clinical manifestations, diagnostic approaches, and treatment options. Methodology: A comprehensive investigation was carried out on numerous databases, such as PubMed, MEDLINE, Scopus, Web of Science, and Google Scholar, to collect pertinent studies covering diverse facets of scleroderma research. Results: Scleroderma presents with a range of systemic manifestations, such as interstitial lung disease, gastrointestinal dysmotility, Raynaud's phenomenon, pulmonary arterial hypertension, renal complications, neurological symptoms, and cardiac abnormalities. Serological markers, such as antinuclear antibodies, anti-centromere antibodies, and anti-topoisomerase antibodies, are important for classifying diseases and predicting their outcomes. Discussion: The precise identification of scleroderma is crucial for promptly and correctly implementing effective treatment plans. Treatment approaches aim to improve symptoms, reduce complications, and slow down the progression of the disease. An integrated approach that combines pharmacological agents, including immunosuppressants, endothelin receptor antagonists, and prostanoids, with nonpharmacological interventions such as physical and occupational therapy is essential for maximizing patient care. Conclusion: Through the clarification of existing gaps in knowledge and identification of emerging trends, our goal is to improve the accuracy of diagnosis, enhance the effectiveness of therapeutic interventions, and ultimately enhance the overall quality of life for individuals suffering from scleroderma. Ongoing cooperation and creative research are necessary to advance the field and achieve improved patient outcomes and new therapeutic discoveries.

Anomalous systemic arterial supply to the basal segment of the lung presenting with haemoptysis in the third trimester of pregnancy.

Anomalous systemic arterial supply to the basal segment of the lung (ABLL) is a rare cause of haemoptysis. ABLL may be complicated by massive haemoptysis, heart failure due to left-to-right shunt and infection. We describe a case of this condition presenting in the third trimester of pregnancy. Computed tomography chest angiogram confirmed the diagnosis. A multidisciplinary approach was necessary to determine treatment, which ultimately consisted of elective caesarean section at 36 weeks and 4 days' gestation, followed by transarterial embolisation 9 days postpartum.

Temporal trends in paediatric hydrocephalus - Rising prematurity and persistent ophthalmological challenges.

AIM: To study changes in aetiology, prematurity, comorbidity and ophthalmological outcomes in children with surgically treated hydrocephalus to provide information needed to maintain the best possible healthcare for a fragile and changing population. METHODS: Two population-based cohorts, born two decades apart in Region Västra Götaland Sweden, surgically treated for hydrocephalus at Sahlgrenska University Hospital in Gothenburg were recruited at approximately 10 years of age. The participants were examined according to an ophthalmological protocol, including history taking regarding perceptual visual dysfunction (PVD). Gestational age, aetiology and comorbidities were registered. RESULTS: The 1989-1993 group, comprised 52 children (48% girls; mean age 10, range 7.7-12.8 years), was compared with 24 children, born in 2007-2012 (29% girls; mean age 10, range 7.0-13.8 years). Extreme prematurity (gestational age ≤ 28 weeks) increased over time (p = 0.001). The vast majority of the children showed ophthalmological abnormalities, although motility defects and nystagmus decreased in the latter population. Subnormal visual acuity was associated with extreme prematurity (RR = 4.69; p = 0.030), and PVD with learning disability (RR = 2.44; p = 0.032). CONCLUSION: Paediatric hydrocephalus populations may change with improved healthcare. Since a high percentage shows ophthalmological abnormalities and more children are born extremely preterm, the entirety needs consideration both neurologically and ophthalmologically.

The role of extracorporeal life support and timing of repair in infants with congenital diaphragmatic hernia.

Extracorporeal life support (ECLS) serves as a rescue therapy for patients with congenital diaphragmatic hernia (CDH) and severe cardiopulmonary failure, and only half of these patients survive to discharge. This costly intervention has a significant complication risk and is reserved for patients with the most severe disease physiology refractory to maximal cardiopulmonary support. Some contraindications to ECLS do exist such as coagulopathy, lethal chromosomal or congenital anomaly, very preterm birth, or very low birth weight, but many of these limits are being evaluated through further research. Consensus guidelines from the past decade vary in recommendations for ECLS use in patients with CDH but this therapy appears to have a survival benefit in the most severe subset of patients. Improved outcomes have been observed for patients treated at high-volume centers. This review details the evolving literature surrounding management paradigms for timing of CDH repair for patients receiving preoperative ECLS. Most recent data support early repair following cannulation to avoid non-repair which is uniformly fatal in this population. Longer ECLS runs are associated with decreased survival, and patient physiology should guide ECLS weaning and eventual decannulation rather than limiting patients to arbitrary run lengths. Standardization of care across centers is a major focus to limit unnecessary costs and improve short-term and long-term outcomes for these complex patients.

The Association Between Components of Metabolic Syndrome and Abnormal Electrocardiograms in the Saudi Population: A Retrospective Study.

REVIEW: Saudi Arabia has a high metabolic syndrome (MetS) prevalence. Having MetS increases the risk of cardiovascular disease (CVD), CVD mortality, and myocardial infarction (MI). There is a lack of information regarding MetS and electrocardiogram (ECG) abnormalities in Saudi Arabian populations. Further, it is unclear to what extent MetS components are associated with abnormal ECGs in Saudi populations. AIM: We investigated whether ECG abnormalities and MetS are associated with Saudi adults. Furthermore, we assessed the relationship between ECG abnormalities and the components of MetS based on the age and gender of the individuals.  Materials and methods: A retrospective study was conducted at Dr Soliman Fakeeh Hospital in Jeddah, Saudi Arabia, on 208 patients with MetS. Participants' clinical and laboratory data were examined. A detailed analysis of the ECG was performed. ECG abnormalities were divided into minor and major abnormalities based on Novacode criteria. In addition to ischemic ECG findings, the ECG showed prolonged PR intervals, prolonged P duration, prolonged QRS duration, and prolonged QTc intervals.  Results: One hundred and thirty-seven participants (65.9%) had elevated fasting blood glucose (FBS), 129 had central obesity (62%), 93 had high blood pressure (BP) (44.7%), 74 had elevated triglycerides (35.6%), and 49 had low high-density lipoprotein (23.6%). An abnormal ECG was found in 86 (41.3%) participants. It consisted of ischemic ECGs, atrioventricular (AV) block (first and second degrees), bundle branch block (right bundle branch block [RBBB], left bundle branch block [LBBB], RBBB with left anterior hemiblock, RBBB with right anterior hemiblock), arrhythmias (premature ventricular contractions [PVCs], premature atrial complexes [PACs], atrial fibrillation [AF], sinus bradycardia, sinus arrhythmia), prolonged QTc, prolonged PR interval, and prolonged QRS duration. There were 29 (13.9%) cases with multiple ECG abnormalities, 57 (27.4%) had one abnormal ECG, 42 (20.2%) had minor abnormal ECGs, and 44 (21.2%) had major abnormal ECGs. Middle-aged and elderly males accounted for the majority of these ECG changes. In the central obesity group, 22 participants (10.6%) had ischemic ECGs, 18 (8.7%) had prolonged QTc, 10 (4.8%) had first-degree AV block, 6 (2.9%) had sinus bradycardia, 7 (3.4%) had RBBB, 4 (1.9%) had LBBB, 3 (1.4%) had PVCs, 2 (1%) had ventricular preexcitation, and one (0.5%) had PACs. An elevated FBS group included 19 participants (9.1%) with an ischemic ECG, 18 (8.7%) with a prolonged QTc, 11 (5.3%) with a first-degree AV block, 9 (4.3%) with sinus bradycardia, 6 (2.9%) with slight ST-T abnormality, 5 (2.4%) with RBBB, and 5 (2.4%) with LBBB. Finally, one (0.5%) of these patients had second-degree AV block, RBBB with left anterior hemiblock, left anterior hemiblock, PVCs, AF, ventricular preexcitation, and sinus arrhythmia for each. CONCLUSION: Saudi Arabian populations with MetS were strongly associated with abnormal ECG findings, particularly ischemic ECG findings, AV block (first and second degrees), and BBB (RBBB, LBBB). Middle-aged and elderly males accounted for the majority of these ECG changes. The most important factors contributing to ECG changes were elevated FBS and central obesity.

The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes.

PURPOSE: This study aimed to investigate the correlation between chromosomal abnormalities in spontaneous abortion with clinical features and seek copy number variations (CNVs) and genes that might be connected to spontaneous abortion. METHODS: Over 7 years, we used CNV-seq and STR analysis to study POCs, comparing chromosomal abnormalities with clinical features and identifying critical CNVs and genes associated with spontaneous abortion. RESULTS: Total chromosomal variants in the POCs were identified in 66.8% (2169/3247) of all cases, which included 45.2% (1467/3247) numerical abnormalities and 21.6% (702/3247) copy number variants (CNVs). Chromosome number abnormalities, especially aneuploidy abnormalities, were more pronounced in the group of mothers aged ≥ 35 years, the early miscarriage group, and the chorionic villi group. We further analyzed 212 pathogenic and likely pathogenic CNVs in 146 POCs as well as identified 8 statistically significant SORs through comparison with both a healthy population and a group of non-spontaneously aborted fetuses. Our analysis suggests that these CNVs may play a crucial role in spontaneous abortion. Furthermore, by utilizing the RVIS score and MGI database, we identified 86 genes associated with spontaneous abortion, with particular emphasis on PARP6, ISLR, ULK3, FGFRL1, TBC1D14, SCRIB, and PLEC. CONCLUSION: We found variability in chromosomal abnormalities across clinical features, identifying eight crucial copy number variations (CNVs) and multiple key genes that may be linked to spontaneous abortion. This research enhances the comprehension of genetic factors contributing to spontaneous abortion.

Circulating immune cell landscape and T-cell abnormalities in patients with moyamoya disease.

BACKGROUND: Moyamoya disease (MMD) stands as a prominent cause of stroke among children and adolescents in East Asian populations. Although a growing body of evidence suggests that dysregulated inflammation and autoimmune responses might contribute to the development of MMD, a comprehensive and detailed understanding of the alterations in circulating immune cells associated with MMD remains elusive. METHODS: In this study, we employed a combination of single-cell RNA sequencing (scRNA-seq), mass cytometry and RNA-sequencing techniques to compare immune cell profiles in peripheral blood samples obtained from patients with MMD and age-matched healthy controls. RESULTS: Our investigation unveiled immune dysfunction in MMD patients, primarily characterized by perturbations in T-cell (TC) subpopulations, including a reduction in effector TCs and an increase in regulatory TCs (Tregs). Additionally, we observed diminished natural killer cells and dendritic cells alongside heightened B cells and monocytes in MMD patients. Notably, within the MMD group, there was an augmented proportion of fragile Tregs, whereas the stable Treg fraction decreased. MMD was also linked to heightened immune activation, as evidenced by elevated expression levels of HLA-DR and p-STAT3. CONCLUSIONS: Our findings offer a comprehensive view of the circulating immune cell landscape in MMD patients. Immune dysregulation in patients with MMD was characterized by alterations in T-cell populations, including a decrease in effector T-cells and an increase in regulatory T-cells (Tregs), suggest a potential role for disrupted circulating immunity in the aetiology of MMD.

Clinical and cardiac CT characteristics of congenital coronary abnormalities occasionally detected in a middle-aged population: A long-term follow-up study.

INTRODUCTION: Congenital coronary artery anomalies (CCAA) represent one of the most challenging conditions as their clinical presentation may range from sudden cardiac death to a complete subclinical form. The aim of the present study was to evaluate the diagnostic and prognostic role of cardiac CT (CCT) evaluation in patients with CCAA, focusing on anomalies of origin. MATERIAL AND METHODS: The present is a retrospective analysis of a prospective clinical registry including a consecutive cohort of patients who underwent clinically indicated CCT from January 2007 to October 2015 for suspected but unknown coronary artery disease (CAD) and were diagnosed for having a congenital coronary abnormality compared to a control group matched for age, sex and segment stenosis score (SSS). Dedicated analysis of all CCT was performed for the present study and only coronary anomalies of origin were considered and included in the study. Two different composite end-points were identified for the present analysis: major cardiovascular events (MACE) and all-cause of death. RESULTS: Among the 81 patients with CCAAs enrolled the most frequent anomaly was left main artery absence, which was identified in 41 individuals (50.6%). Forty-five subjects (55.5%) have an anomalous origin of the coronary artery from a different sinus of Valsalva and 45 subjects had also an anomalous course with the retro-aortic being the most common (32%). Eleven participants (13.6%) displayed also an intramural segment, while 10 (10.3%) had a slit-like ostial morphology. At multivariate analysis CT identification of ARCA, anomalous inter-arterial course and abnormal ostial morphology were significantly associated with MACE even when adjusted for age and SSS, without any differences in all-cause mortality between the two groups (6.2% vs 2.4% p â€‹= â€‹0.2478). CONCLUSION: The result of the present study is that CCT can be successfully used to define the anatomy and features of CAA. It suggested that in middle-aged patients, the identification of high risk characteristics at CT may have a prognostic value in term of cardiovascular events occurrence at follow-up even if the rate of events strictly linked to CCAA is low.

OIES complex diagnosed by in utero ultrasound a case report.

INTRODUCTION AND IMPORTANCE: OEIS complex is a rare and complex anomaly of the genitourinary and intestinal tract. It includes Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects. PRESENTATION OF CASE: We are reporting a case of OEIS complex. CLINICAL DISCUSSION: Cloacal exstrophy is considered the most severe ventral abdominal wall defect. Diagnosis is primarily antenatal based on the presenting features on ultrasonography. Management requires initial resuscitation and stabilization followed by either single staged closure or multistage procedures by multi-disciplinary surgical team. CONCLUSION: The introduction of better diagnostic techniques and the detection of fetal malformations during pregnancy is it's the cornerstone of care.

Computed tomography multi-planar and 3D image assessment protocol for detailed analysis of inner ear malformations in patients undergoing cochlear implantation counseling.

<b><br>Introduction:</b> Congenital inner ear malformations resulting from embryogenesis may be visualized in radiological scans. Many attempts have been made to describe and classify the defects of the inner ear based on anatomical and radiological findings.</br> <b><br>Aim:</b> The aim was to propose and discuss computed tomography multi-planar and 3D image assessment protocols for detailed analysis of inner ear malformations in patients undergoing cochlear implantation counseling.</br> <b><br>Material and methods:</b> A retrospective analysis of 22 malformed inner ears. CT scans were analyzed using the Multi-Planar Reconstruction (MPR) option and 3D reconstruction.</br> <b><br>Results:</b> The protocol of image interpretation was developed to allow reproducibility for evaluating each set of images. The following malformations were identified: common cavity, cochlear hypoplasia type II, III, and IV, incomplete partition type II and III, and various combinations of vestibule labyrinth malformations. All anomalies have been presented and highlighted in figures with appropriate descriptions for easier identification. Figures of normal inner ears were also included for comparison. 3D reconstructions for each malformation were presented, adding clinical value to the detailed analysis.</br> <b><br>Conclusions:</b> Properly analyzing CT scans in cochlear implantation counseling is a necessary and beneficial tool for appropriate candidate selection and preparation for surgery. As proposed in this study, the unified scans evaluation scheme simplifies the identification of malformations and reduces the risk of omitting particular anomalies. Multi-planar assessment of scans provides most of the necessary details. The 3D reconstruction technique is valuable in addition to diagnostics influencing the decision-making process. It can minimize the risk of misdiagnosis. Disclosure of the inner ear defect and its precise imaging provides detailed anatomical knowledge of each ear, enabling the selection of the appropriate cochlear implant electrode and the optimal surgical technique.</br>.

GALNT2 expression is associated with glucose control and serum metabolites in patients with type 2 diabetes.

AIMS: Aim of this study was to investigate in type 2 diabetes whether expression level of GALNT2, a positive modulator of insulin sensitivity, is associated with a metabolic signature. METHODS: Five different metabolite families, including acylcarnitines, aminoacids, biogenic amines, phospholipids and sphingolipids were investigated in fasting serum of 70 patients with type 2 diabetes, by targeted metabolomics. GALNT2 expression levels were measured in peripheral white blood cells by RT-PCR. The association between GALNT2 expression and serum metabolites was assessed using false discovery rate followed by stepwise selection and, finally, multivariate model including several clinical parameters as confounders. The association between GALNT2 expression and the same clinical parameters was also investigated. RESULTS: GALNT2 expression was independently correlated with HbA1c levels (P value = 0.0052), a finding that is the likely consequence of the role of GALNT2 on insulin sensitivity. GALNT2 expression was also independently associated with serum levels of the aminoacid glycine (P value = 0.014) and two biogenic amines phenylethylamine (P value = 0.0065) and taurine (P value = 0.0011). The association of GALNT2 expression with HbA1c was not mediated by these three metabolites. CONCLUSIONS: Our data indicate that in type 2 diabetes the expression of GALNT2 is associated with several serum metabolites. This association needs to be further investigated to understand in depth its role in mediating the effect of GALNT2 on insulin sensitivity, glucose control and other clinical features in people with diabetes.

Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study.

PURPOSE: We assessed the risk of congenital anomalies in children who have a sibling with cancer. METHODS: We performed a matched cohort study of children born between 2006 and 2022 in Quebec. The exposure was having a sibling with cancer. Exposed children were matched to unexposed children based on sex, number of siblings, birth order, and year. The outcome included heart defects, orofacial clefts, and other anomalies. Using conditional logistic regression, we estimated odds ratios (OR) and 95 % confidence intervals (CI) for the association between having a sibling with cancer and the likelihood of having a congenital anomaly. RESULTS: A total of 2403 children who had a sibling with cancer were matched to 240,257 unexposed children. Congenital anomalies were more frequent in children who had a sibling with cancer compared with unexposed children (10.3 % vs 8.9 %). Overall, having a sibling with cancer was only weakly associated with congenital anomalies (OR 1.18, 95 % CI 1.04-1.35). Exposed children tended to have greater odds of polydactyly/syndactyly (OR 1.89, 95 % CI 1.11-3.21) and urinary defects (OR 1.50, 95 % CI 1.09-2.08) compared with unexposed children. CONCLUSIONS: Children who have a sibling with cancer have an only weakly elevated risk of congenital anomalies.

Discoid Double-layered Lateral Meniscus: A Case Report.

Introduction: Abnormalities of the double-layered meniscus are rare and can be difficult to diagnose. The main pathology in this abnormality, which is predominantly seen in the lateral compartment, is an accessory meniscus lying over the normal meniscus. Anatomically, this structure can appear in different forms. Although other meniscal abnormalities associated with a double-layered meniscus have been reported, this case presents a previously undescribed type in the literature. Case Report: A 12-year-old girl presented to our clinic with complaints of knee locking and pain. When the patient underwent arthroscopy, an accessory incomplete discoid meniscus was found overlying the normal lateral meniscus. We performed an excision of the upper accessory meniscus and the patient had no problems during 3 years of follow-up after surgery. Conclusion: Abnormalities of the lateral meniscus are rare and can be difficult to diagnose. In cases where we suspect a meniscal abnormality, a proper arthroscopic examination should be performed and if a discoid meniscus is seen, it should be considered that this may be a double-layered meniscus.

Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages.

Background A retrospective study was performed to evaluate the patterns of cytogenomic findings detected from a case series of products of conception (POC) in recurrent pregnancy loss (RPL) over a 16-year period from 2007 to 2023. Results This case series of RPL was divided into a single analysis (SA) group of 266 women and a consecutive analysis (CA) group of 225 women with two to three miscarriages analyzed. Of the 269 POC from the SA group and the 469 POC from the CA group, a spectrum of cytogenomic abnormalities of simple aneuploidies, compound aneuploidies, polyploidies, and structural rearrangements/pathogenic copy number variants (pCNVs) were detected in 109 (41%) and 160 cases (34%), five (2%) and 11 cases (2%), 35 (13%) and 36 cases (8%), and 10 (4%) and 19 cases (4%), respectively. Patterns with recurrent normal karyotypes, alternating normal and abnormal karyotypes, and recurrent abnormal karyotypes were detected in 74 (33%), 71 (32%), and 80 (35%) of consecutive miscarriages, respectively. Repeat aneuploidies of monosomy X and trisomy 16, triploidy, and tetraploidy were detected in nine women. Conclusions A comparable spectrum of cytogenomic abnormalities was noted in the SA and CA groups of RPL. A skewed likelihood of 2/3 for recurrent normal and abnormal karyotypes and 1/3 for alternating normal and abnormal karyotypes in consecutive miscarriages was observed. Routine cytogenetic analysis should be performed for consecutive miscarriages. Further genomic sequencing to search for detrimental and embryonic lethal variants causing miscarriages and pathogenic variants inducing aneuploidies and polyploidies should be considered for RPL with recurrent normal and abnormal karyotypes.

Pregnancies in patients with systemic lupus erythematosus during 2000-2018 in Finland: a case-control study.

OBJECTIVES: The aim was to investigate, how pregnancies proceed in patients with systemic lupus erythematosus (SLE) compared to their individually matched population controls. MATERIAL AND METHODS: Adult incident SLE patients were identified from the register of new special reimbursement decisions for SLE drugs in 2000-2014. For each patient, 1-3 randomly selected controls from the Population Register Centre were matched. Data regarding pregnancies were obtained from the Finnish Medical Birth Register, Care Register and Register of Congenital Malformations until 2018. The study utilized data from the Drug Purchase Register and educational information from Statistic Finland. RESULTS: A total of 163 deliveries for 103 mothers with SLE and 580 deliveries for 371 population controls were identified. The duration of pregnancies in SLE women was significantly shorter compared to controls (38.9 versus 39.6 weeks). There were more urgent Caesarean Sections. (15% versus 9%) and need for care at neonatal intensive care unit (NICU) (21% versus 11%) among deliveries in SLE mothers. No statistical difference was observed between SLE and control groups in the occurrence of preeclampsia or major congenital malformations. Gestational age was 2.5 weeks shorter when the mother experienced pre-eclampsia. Hydroxychloroquine was purchased by 30% of SLE mothers during pregnancy. CONCLUSION: The course of pregnancies in Finnish SLE patients seems to be quite moderate compared to controls, and no new safety issues were detected. The low utilization of hydroxychloroquine indicates that the benefits of the drug to pregnancy and disease course are not optimally recognized by specialists treating SLE mothers.