Anomaly

BACKGROUND: Among sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosome in males, leading to a diverse range of physical, neurocognitive, behavioral, and psychological manifestations. Typical characteristics include a tall stature and infertility. Other phenotypes include congenital heart defects, skeletal anomalies, tremors, obesity, as well as the potential for type 2 diabetes and/or peripheral vascular disease...

BACKGROUND: Influenza-like illness (ILI) imposes a significant burden on patients, employers and society. However, there is no analysis and prediction at the hospital level in Chongqing. We aimed to characterize the seasonality of ILI, examine age heterogeneity in visits, and predict ILI peaks and assess whether they affect hospital operations. METHODS: The multiplicative decomposition model was employed to decompose the trend and seasonality of ILI, and the Seasonal Auto-Regressive Integrated Moving Average with exogenous factors (SARIMAX) model was used for the trend and short-term prediction of ILI...

BACKGROUND: Geographical and meteorological factors have been reported to influence the prevalence of echinococcosis, but there's a lack of indicator system and model. OBJECTIVE: To provide further insight into the impact of geographical and meteorological factors on AE prevalence and establish a theoretical basis for prevention and control. METHODS: Principal component and regression analysis were used to screen and establish a three-level indicator system...

BACKGROUND: This study evaluated parenting stress, anxiety, and depression symptoms and their associated factors in parents of children with chronic kidney disease (CKD). METHODS: This cross-sectional study compared parents of patients with CKD (0-18 years) with a matched control group of parents of healthy children. Both groups completed the Parenting Stress Index - Short Form, the Hospital Anxiety and Depression Scale, and a sociodemographic questionnaire...

INTRODUCTION: Myocardial ischemia-reperfusion (IR) injury is a common medical issue contributing to the onset and progression of ischemic heart diseases (IHD). Growth arrest-specific gene 6 (GAS6) is vitamin K-dependent secretory protein, to promote cell proliferation and inhibit inflammation and apoptosis through binding with Tyro3, Axl, and Mertk (TAM) receptors. OBJECTIVES: Our study aimed to examine the effect of GAS6 pathways activation as a potential new treatment in myocardial ischemia-reperfusion (IR) injury...

INTRODUCTION: Plastic surgeons can help to eliminate stunting by surgically treating children born with congenital craniofacial anomalies such as tongue-tie, or ankyloglossia. Releasing ankyloglossia can help to support breastfeeding and the later development of orofacial anatomy and physiology. Failure to do so can lead to growth and development difficulties in children. We report a heartbreaking case of a stunted 8 year-old female with underdiagnosed and untreated ankyloglossia...

Penn State University is developing a pediatric total artificial heart (pTAH) as a bridge-to-transplant device that supports infants and small children with single ventricle anomalies or biventricular heart failure to address high waitlist mortality rates for patients with severe congenital heart disease. Two issues with mechanical circulatory support devices are thrombus formation and thromboembolic events. This in vitro study characterizes flow within Penn State's pTAH under physiological operating conditions...

Transposition of the great arteries (TGA) is a cyanotic congenital heart disease characterized by ventriculoarterial discordance and atrioventricular concordance with the great arteries in a parallel relationship. Prenatal diagnosis of TGA has implications for postnatal outcomes, allowing for planned delivery and perinatal management. Three-dimensional virtual or physical models of fetal TGA allow better understanding of fetal cardiac anomalies by parents and interactive discussion among the multidisciplinary team (obstetricians, pediatricians, maternal-fetal specialists, pediatric cardiologists, and cardiovascular surgeons), as well as continuing medical education...

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The use of nucleos(t)ide analogs (NAs) is recommended for mothers with a high viral load of hepatitis B virus (HBV) during the second or third trimester of pregnancy. However, postpartum hepatitis flares can occur in some cases. We examined the efficacy of NA administration for the prevention of mother-to-child transmission of hepatitis B virus, and evaluated the risk of postpartum hepatitis flares in mothers after NA discontinuation. Nine pregnant women with a high viral load (HBV DNA ≥5.3 log IU/mL) received tenofovir disoproxil fumarate (TDF) at approximately 28 weeks of gestation, and TDF was discontinued at 4-10 weeks after delivery...

OBJECTIVES: To report the outcome of fetuses with a prenatal diagnosis of congenital lung malformation (CLM) diagnosed on ultrasound by performing a comprehensive assessment of these outcomes through a systematic review and meta-analysis. CONTENT: CLMs are a heterogeneous group of anomalies that involve the lung parenchyma and its bronchovascular structures. Their presentation and evolution are variable, from entirely asymptomatic lesions with sonographic regression in utero to hydropic fetuses requiring fetal therapy, intrauterine death or neonatal morbidity...

Dens invaginatus (DI) is a developmental anomaly of the teeth characterised by the in-folding of the enamel into the dentin. Oehlers' Type III DI is the most serious form, in which the inherently invaginated channels communicate with periodontal and dental pulp tissue, increasing the risk of bacterial contamination. However, varying and complex anatomical features make diagnosis and treatment challenging. Conventional endodontic therapies promote healing by avoiding unnecessary interventions (e.g., surgical or other invasive treatments)...

BACKGROUND: Maternal diabetes mellitus (MDM) is associated with increased risks for adverse neonatal outcomes. However, the impact of MDM on neonatal outcomes in Bisha, a city in Saudi Arabia, is not well documented. This study aims to investigate the impact of MDM on neonatal outcomes in the Maternity and Children's Hospital (MCH), Bisha, Saudi Arabia. METHODS: A retrospective cohort study was conducted on 181 pregnant women with diabetes and their neonates who were diagnosed at the Maternity and Children's Hospital (MCH), Bisha, Saudi Arabia, between 5 October 2020 and 5 November 2022...

BACKGROUND: Neurological soft signs (NSSs), minor physical anomalies (MPAs), and oculomotor abnormalities were plausible biomarkers in bipolar disorder (BD). However, specific impairments in these markers in patients after the first episode mania (FEM), in comparison with first-degree relatives (high risk [HR]) of BD and healthy subjects (health control [HC]) are sparse. AIM OF THE STUDY: This study aimed at examining NSSs, MPAs, and oculomotor abnormalities in remitted adult subjects following FEM and HR subjects in comparison with matched healthy controls...

INTRODUCTION: Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies...

BACKGROUND: Neuroglial heterotopia is a rare lesion composed of differentiated neuroectodermal cells that manifest in extracranial locations, with the majority of cases predominantly occurring in the head and neck region. Retroperitoneal neuroglial heterotopia is exceptionally rare, with isolated cases published in the scientific literature. CASE REPORT: Here, we present the case of a 3-year-old girl who was admitted without clinical signs but presented with a palpable abdominal mass...

INTRODUCTION: In the current times, fetal growth monitoring has become readily available with the help of Doppler ultrasound. Identification of pregnancies that are at risk for perinatal morbidity and mortality has been a primary goal of obstetric care. Doppler study is a fast, non-invasive test that provides significant information about the hemodynamic status of the fetus. It is an efficient diagnostic modality to assess fetal compromise, which helps in timely intervention in high-risk pregnancies for better perinatal outcomes...

High temperature requirement A1 (HTRA1) is a member of the serine protease family, comprising four structural domains: IGFBP domain, Kazal domain, protease domain and PDZ domain. HTRA1 encodes a serine protease, a secreted protein that is widely expressed in the vasculature. HTRA1 regulates a wide range of physiological processes through its proteolytic activity, and is also involved in a variety of vascular abnormalities-related diseases. This article reviews the role of HTRA1 in the development of vascular abnormalities-related hereditary cerebral small vessel disease (CSVD), age-related macular degeneration (AMD), tumors and other diseases...

The azygos anterior cerebral artery (ACA) is a rare anatomical anomaly. Clipping surgery has been conducted in approximately 30 reported cases because it is frequently associated with aneurysms. However, few cases in which coil embolization was performed have been reported. We report three cases of coil embolization for distal ACA aneurysms with distal azygos ACA at our institution in 7 years. All patients were over 65-year-old women with saccular aneurysms larger than 7 mm; two with subarachnoid hemorrhage and one with an unruptured aneurysm...

PURPOSE: The present study investigated experiences of traumatic perinatal events, the provision of related education, and educational needs of nurses working in the labor and delivery room (LDR). METHODS: Nurses working in the LDRs of six institutions and two nurse portal sites were invited to participate in the survey, delivered on paper or online. The data were collected from October 1 to November 25, 2022. Data from 129 nurses were analyzed using frequency, the chi-square test, the Fisher exact test, the t-test, and analysis of variance...