Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) in a 25-Year-Old Patient: A Case Report.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder caused by mutations in the NOTCH3 gene, resulting in subcortical infarctions and leukoencephalopathy. It predominantly affects the brain's small blood arteries, resulting in repeated ischemic episodes including transient ischemic attacks and strokes leading to cognitive impairment and mental symptoms. We provide a case study of a 25-year-old patient suspected of having meningoencephalitis. CADASIL was diagnosed based on clinical examination, imaging investigations, and genetic analysis. Optimal patient care for this complicated illness requires early detection and proper management.

A Rare Case of Portal Hypertension and Ascites Following Intrauterine Fetal Death: A Case Report.

We present a rare case of a 25-year-old woman who developed idiopathic portal hypertension and ascites four days after delivering a stillborn child at term. She had no previous liver illness or risk factors for portal vein thrombosis. Investigations revealed a dilated portal vein, esophageal varices, and high serum-albumin gradient ascites, all of which point to a presinusoidal etiology of portal hypertension. There was no indication of cirrhosis, hepatic or portal vein thrombosis, metabolic or autoimmune liver diseases, or persistent infections. She was treated with antibiotics, diuretics, and beta-blockers, and she underwent a therapeutic paracentesis. The etiology of her portal hypertension remains undetermined. Idiopathic portal hypertension is a rare condition of unknown etiology, characterized by portal hypertension without cirrhosis or thrombosis. It is linked to several risk factors and histological abnormalities, and it can be accompanied by portal hypertension consequences, such as variceal hemorrhage and ascites. The diagnosis is made using clinical criteria and the elimination of alternative causes of portal hypertension. Management is mostly symptomatic, intending to avoid and treat portal hypertension consequences. The prognosis varies according to the underlying etiology and presence of complications.

Fahr's Syndrome: A Rare Case Presentation.

Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare neurological disorder characterized by metabolic, biochemical, neuroradiological, and neuropsychiatric alterations resulting from symmetrical and bilateral intracranial calcifications. In most cases, an autosomal dominant pattern of inheritance and genetic heterogeneity is observed. Neuropsychiatric symptoms with movement disorders account for 55% of the manifestations of this disease. In this report, we present the case of a 42-year-old Pakistani male who presented to the emergency department with a sudden onset of generalized tonic muscle contractions. His medical history revealed progressive cognitive impairment, and he had a history of taking oral calcium supplements. Initial laboratory investigations showed hypocalcemia with normal magnesium and phosphate levels, while his parathyroid hormone levels were low. The interictal electroencephalogram was normal, and CT imaging of the brain without contrast revealed bilateral symmetrical dense calcifications in the basal ganglia, thalami, periventricular area, corona radiata, centrum semiovale, and dentate nucleus of the cerebellum, suggestive of Fahr disease. Intravenous calcium gluconate was administered in the emergency department, leading to an improvement in the patient's symptoms. The diagnosis of IBGC with relevant symptoms was confirmed through laboratory values and characteristic features observed in the CT examination.

Unveiling the Uncommon: Superior Mesenteric Artery Syndrome Presenting As Gastritis.

Superior mesenteric artery syndrome (SMAS) is a specific type of duodenal obstruction marked by a blockage of the inferior part of the duodenum as a result of compression between the superior mesenteric artery (SMA) and the aorta. Depletion of the mesenteric fatty pad causes this complication. In the current study, we describe a case of SMAS involving a 36-year-old lady who presented with postprandial pain, weight loss, and hematemesis. The patient was investigated for chronic pancreatitis, celiac disease, and intestinal tuberculosis due to a vague presentation, which yielded normal results. Subsequently, esophagogastroduodenostomy (EGD) was performed during a follow-up visit, which revealed erosive gastritis and antral inflammation. The patient was eventually given the go-ahead for a CT scan which led to the diagnosis of SMAS leading to erosive gastritis and distal duodenal obstruction.

Pediatricians' perceptions, practices, and barriers regarding COVID-19 vaccine for children: A cross-sectional survey in Ontario, Canada.

BACKGROUND: SARS-CoV-2 vaccination of all age-eligible populations is an important part of the COVID-19 pandemic response. In Ontario, vaccination coverage in 5-to-11-year-old children has remained lower than in other age groups. We sought to understand pediatricians' perception, practices, and barriers to SARS-CoV-2 vaccination in children, particularly children aged 5-to-11 years, to inform interventions and promote capacity of pediatricians as vaccinators and vaccination promoters. METHODS: This is a descriptive, cross-sectional study consisting of an online self-administered questionnaire distributed to 1,313 pediatricians in Ontario. Descriptive statistics, including Chi-square or Fisher's exact tests, were performed. RESULTS: In total, 152 Pediatricians responded (11.6% response rate), from February 17, 2022 to March 17, 2022. 78% of respondents were general pediatricians and 22% were pediatric subspecialists. Median years of practice was 17 (8-31), with 68% female, 32% male. Most pediatricians thought it was unlikely that children aged 5-to-11 years would become seriously ill from acute COVID-19 caused by Delta (66%) or Omicron (80%). 92% were very likely to recommend the COVID-19 vaccine for children aged 5-to-11 years. COVID-19 vaccine was perceived as safe, with higher safety perception in children aged 5-to-11 compared to 12-to-17 years (p < 0.0001). COVID-19 vaccines were thought to be effective in reducing hospitalization or severe illness, and reducing SARS-CoV-2 infection, with higher perceived effectiveness against Delta compared to Omicron (p < 0.0001). 97% felt confident counselling caregivers of children aged 5-to-11 years on the COVID-19 vaccine. Few pediatricians did not feel confident in accessing resources for health professionals (6%) or for patients/caregivers (12%). CONCLUSIONS: Most surveyed pediatricians were very likely to recommend COVID-19 vaccination for children aged 5-to-11-years, perceived COVID-19 vaccines as safe and effective, and felt confident in their COVID-19 vaccine counselling for children aged 5-to-11 years. However, there remains areas for further training and capacity development.

Prospective cohort study of vitamin D and autism spectrum disorder diagnoses in early childhood.

Several studies have suggested an association between vitamin D in childhood and autism spectrum disorder. No prospective studies have evaluated whether lower vitamin D levels precede ASD diagnoses - a necessary condition for causality. The objective of this study was to prospectively evaluate whether vitamin D serum levels in early childhood was associated with incident physician diagnosed ASD. A prospective cohort study was conducted using data from preschool-aged children in the TARGet Kids! practice-based research network in Toronto, Canada, from June 2008 to July 2015. 25-hydroxyvitamin D concentration was measured through blood samples and vitamin D supplementation from parent report. Autism spectrum disorder diagnosis was determined from medical records at follow-up visits. Covariates included age, sex, family history of autism spectrum disorder, maternal ethnicity, and neighborhood household income. Unadjusted and adjusted relative risks and 95% confidence intervals were estimated using Poisson regression with a robust error variance. In this study, 3852 children were included. Autism spectrum disorder diagnosis was identified in 41 children (incidence = 1.1%) over the observation period (average follow-up time = 2.5 years). An association between 25-hydroxyvitamin D concentration and autism spectrum disorder was not identified in the unadjusted (relative risk = 1.04, 95% confidence interval: 0.97, 1.11 per 10 nmol/L increase in 25-hydroxyvitamin D concentration) or adjusted models (adjusted relative risk = 1.06; 95% confidence interval: 0.95, 1.18). An association between vitamin D supplementation in early childhood and autism spectrum disorder was also not identified (adjusted relative risk = 0.86, 95% confidence interval: 0.46, 1.62). Vitamin D in early childhood may not be associated with incident physician diagnoses of autism spectrum disorder.