Fahr's Syndrome With Hypoparathyroidism in a Patient With Schizophrenia and Iron Deficiency Anemia: A Case Report.

Fahr's syndrome is a rare neurological disorder that shows up as calcium deposits in the brain, affecting motor control and cognitive functions. In this case report, a 45-year-old woman with schizophrenia was diagnosed with Fahr's syndrome, which can be challenging to diagnose due to coexisting neurological comorbidity.

Zellweger syndrome; identification of mutations in and gene in Saudi families.

Background: Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts. PBDs are associated with mutations in any of fourteen different genes, which are involved in peroxisome biogenesis.

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Aim: Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to a change in the genetic sequence of alanine-glyoxylate aminotransferase (AGXT) gene.

A novel cryptic splice donor due to synonymous variant in as an underlying cause of a chorea-acanthocytosis in a large family.

Chorea-acanthocytosis (ChAc) is a rare inherited disease of the nervous system. In this disease the neurological manifestations are associated with acanthocytosis of the red blood cells. The clinical features appear in the third to fourth decades of life.

Review of the Effects of Antiviral Therapy on Hepatitis B/C-Related Mortality and the Regression of Fibrosis.

Hepatitis B and Hepatitis C are viral causes of Hepatitis that lead to significant worldwide mortality and morbidity through the sequelae of fibrosis and hepatocellular carcinoma. In this review, we have summarized recent studies that have examined the effects of antiviral therapy on the regression of fibrosis and the reduction in mortalities associated with the viruses. Antiviral therapy significantly decreases mortality and induces the regression of fibrosis.

A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.

Cerebellar vermis hypoplasia refers to a varying degree of incomplete development of the cerebellum and vermis. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual impairment, skeletal, and cardiac abnormalities was ascertained in this study. Three out of four patients could not survive longer and had died in early infancy.

Coronary Artery-to-Superior Vena Cava Fistula: Contemporary Role of Phonocardiography in Diagnosis.

• An uncommon case of coronary artery–to–SVC fistula is described. • Knowledge of the associated physical examination with TTE findings aids diagnosis. • New POCUS systems with microphones directly correlate murmurs and pathology.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the gene underlying clinical variant of α-mannosidosis.

Background: α-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age.

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

: Hypermanganesemia with dystonia 1 (HMNDYT1) is a rare genetic disorder characterized by elevated blood manganese levels. This condition is associated with polycythemia, motor neurodegeneration with extrapyramidal features, and hepatic dysfunction, which can progress to cirrhosis in some patients. : In this study, a consanguineous Saudi family with two affected individuals exhibiting symptoms of severe motor impairment, spastic paraparesis, postural instability, and dystonia was studied.

Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case-Control Study.

Chronic myeloid leukemia (CML) results from chromosomal translocation t(9;22) leading to the formation of the BCR-ABL fusion oncogene. CML has three stages: the chronic phase (CP), the accelerated phase (AP), and the blast crisis (BC). Tyrosine kinase inhibitors (TKIs) have revolutionized the treatment of CML.

Meta-Analysis Comparing Drug-Coated Balloon Versus Plain Old Balloon Angioplasty for In-Stent Restenosis of Coronary Arteries.

Despite the advent of newer stents, in-stent restenosis has been a persistent and formidable challenge. Trials have demonstrated the superiority of drug-coated balloons over plain old balloon angioplasty. A recent AGENT IDE PRESTO (Prevention of REStenosis with Tranilast and its Outcomes) trial highlighted the need for a more comprehensive understanding; therefore, we conducted a meta-analysis to elucidate their respective clinical outcomes.

Gender-based disparities in outcomes of coronary bifurcation stenting in patients undergoing percutaneous coronary intervention: a systematic review and meta-analysis.

Introduction: Around 15-20% of lesions necessitating percutaneous coronary interventions (PCI) are attributed to coronary bifurcation lesions. We aim to study gender-based differences in PCI outcomes among bifurcation stents.

Methods: 3 studies were included after thorough systematic search using MEDLINE (EMBASE and PubMed).

Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family.

Frank-Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. Mutations in the SH3PXD2B gene are a common cause in the development of FTHS. We recruited a family with two affected individuals (3-year-old female and 2-month-old male infant) having bilateral clubfoot.

Voiding efficiency: a predictor of failed trial off catheter after transurethral resection of prostate.

Purpose: Following transurethral resection of the prostate (TURP), there is no clear recommendation for the catheter duration, and objective criteria are needed to determine appropriate time for trial off catheter. Current study is aimed to identify the high-risk patients for failed trial off catheter and the association with preoperative voiding efficiency with postoperative failed trial without catheter.

Methodology: This is cross-sectional single institutional study.

Drug-eluting stent vs. Balloon angioplasty in patients with in-stent restenosis: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Introduction: In-stent restenosis (ISR) is seen in up to 20% of cases and is the primary cause of percutaneous coronary intervention (PCI) failure. With the use of re-stenting with a drug-eluting stent (DES), plain old balloon angioplasty (BA) use is decreasing. We aim to compare the efficacy and safety profile of DES over BA in the management of ISR.

Assessing the Efficacy of RADPAD Protection Drape in Reducing Radiation Exposure to Operators in the Cardiac Catheterization Laboratory: A Systematic Review and Meta-Analysis.

One of the leading environmental hazards, ionizing radiation, is linked to several detrimental health consequences in the body. RADPAD (Worldwide Innovations & Technologies, Inc., Kansas City, Kansas) is a sterile, lead-free, lightweight, disposable radiation protection shield.

Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.

Background And Objectives: Post-pubertal disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion is a heterogeneous condition. Patients with this disease have low levels of gonadal hormones and high levels of gonadotropins. It is one of the causes of female infertility and a strong genetic component is attributed as an underlying cause of this condition.

Identification of Novel and Recurrent Variants in , , and Genes in Families with Metabolic Disorders in Saudi Arabia.

Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes. These defects result in an abnormal accumulation of metabolites and thus interfere with the body's metabolism. A variety of IMDs exist and differential diagnosis is often challenging.

Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.

Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development.

Idiopathic Pulmonary Fibrosis Comorbid With Mediastinal Small Cell Carcinoma: A Clinical Dilemma.

We present an interesting case of mediastinal small cell carcinoma (MSCC), an exceedingly rare entity, comorbid with idiopathic pulmonary fibrosis (IPF). A 66-year-old female was first seen in the pulmonology office for abnormal chest computed tomography (CT) findings of right apical bronchiectasis and subpleural fibrotic changes with focal pleural thickening along the fissures, along with a right lower lobe nodule. Pulmonary function testing (PFT) showed an obstructive pattern with modest bronchodilator response, although subsequent PFT showed a worsening restrictive pattern with a worsening DLCO.