Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

Introduction: Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). This study aims to evaluate phenotype and genotype characteristics and long-term follow-up of the largest group of patients with (HVDDR-type II) in Saudi Arabia.

Methodology: We conducted a retrospective chart review to collect the clinical, biochemical, and genetic data for all HVDDR-type II patients currently receiving treatment at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

Case report: familial hypocalciuric hypercalcemia.

Background: Familial hypocalciuric hypercalcemia (FHH) is a hypercalcemic syndrome that is usually characterized by uncomplicated hypercalcemia and normal longevity. The inheritance pattern is autosomal dominant with high penetrance, and it affects both men and women equally. FHH is caused by mutations that disturb the normal functioning of the calcium-sensing receptor () gene.

CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3: A Case Report in Saudi Arabia.

Rickets is a childhood disorder of vitamin D deficiency that is characterized by growth retardation and impairment in skeletal mineralization. Vitamin D deficiency is usually due to decreased dietary vitamin D intake, decreased sunlight exposure, or genetic defects. A recurrent gain-of-function missense mutation (p.

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH.

Surgical management of neonatal severe hyperparathyroidism.

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that can be lethal. Most patients require parathyroidectomy.

Objective: Report experience in managing this severe disease.

Metformin and Dapagliflozin Attenuate Doxorubicin-Induced Acute Cardiotoxicity in Wistar Rats: An Electrocardiographic, Biochemical, and Histopathological Approach.

Doxorubicin is a widely used anticancer drug whose efficacy is limited due to its cardiotoxicity. There is no ideal cardioprotection available against doxorubicin-induced cardiotoxicity. This study aimed to investigate the anticipated cardioprotective potential of metformin and dapagliflozin against doxorubicin-induced acute cardiotoxicity in Wistar rats.

Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.

We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) in Saudi Arabia. This is a retrospective and prospective, single center study which included 37 patients 14 years and older enrolled and followed up between 2018-2021 for three years. 46% were females, 78% were offspring of consanguineous marriage.

Effectiveness of ultrasonography-guided cardiac sympathetic denervation in acute control of electrical storm: A retrospective case series.

Background And Aims: Ultrasonography-guided left cardiac sympathetic denervation (LCSD) or bilateral cardiac sympathetic denervation (BCSD) may be a useful intervention in the electrical storm (ES) that persists despite pharmacological therapy. The aim of our study was to evaluate the effectiveness of ultrasonography-guided LCSD or BCSD in the acute control of ES. We conducted a retrospective case series of patients who underwent ultrasonography-guided CSD for control of ES at a tertiary care hospital.

Single Coronary Artery from Right Sinus of Valsalva: A Single Center Experience of Seven Cases.

Background: Single coronary artery (SCA) is a rare anomaly with a prevalence of 0.024-0.066%.

Ventricular strain patterns in multivalvular heart disease: a cross-sectional study.

Multivalvular heart disease (MVD) is an aggregate of regurgitant and/or stenotic lesions of at least two cardiac valves. Ventricular tissue deformation imaging is a powerful predictor of subclinical myocardial dysfunction in patients with MVD.The aim of this study was to examine the left and right ventricular strain patterns in MVD as well as observe any association between right-sided valvular involvement (tricuspid or pulmonary valve lesion) with that of aortic and/or mitral valve lesion.

A case series of rare neurological and cardio-pulmonary manifestations of thiamine deficiency in pregnancy and lactation.

Thiamine (vitamin B1) is a sulfur-containing, water-soluble vitamin that plays an essential role in energy metabolism and the tricarboxylic acid cycle. There is an increased need for vitamin B1 (1-1.2 mg daily) during pregnancy and lactation.

Role of deformation imaging in left ventricular non-compaction and hypertrophic cardiomyopathy: an Indian perspective.

Background: Speckle tracking echocardiography (STE) has emerged as a novel feasible tool for the assessment of left ventricular rotational parameters. Since hypertrophic cardiomyopathy(HCM) shares morphologic features with left ventricular non-compaction (LVNC), we used this imaging modality to compare rotational mechanics between these two entities.

Results: We compared global and regional LV function and rotational mechanics between LVNC, HCM, and healthy subjects using STE.

Percutaneous intervention for restoration of patency of occluded lower limb arteriovenous dialysis access.

Background: Arteriovenous (AV) fistula thrombosis is a serious complication in patients undergoing hemodialysis, often presenting with symptoms of venous hypertension, failure to dialysis and uremic symptoms. Treatment is aimed to provide symptomatic relief and to maintain hemodialysis access site patency.

Aim: To describe our initial experience in the endovascular treatment of lower limb AV dialysis access (AV fistula) thrombosis and/or obstruction in patients undergoing hemodialysis.

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

Background/aims: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort.

Subjects And Methods: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene.

Chronic lithium intoxication: Varying electrocardiogram manifestations.

Lithium is a commonly used drug in psychiatric practice. It is used in the treatment of depression and bipolar disorder. It has a narrow therapeutic index with documented adverse effects even near therapeutic levels.

Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel.

We present clinical practice guidelines for the diagnosis and treatment of homozygous familial hypercholesterolaemia (HoFH) in the Middle East region. While guidelines are broadly applicable in Europe, in the Middle East we experience a range of confounding factors that complicate disease management to a point whereby the European guidance cannot be applied without significant modification. Specifically, for disease prevalence, the Middle East region has an established epidemic of diabetes and metabolic syndrome that can complicate treatment and mask a clinical diagnosis of HoFH.

Patient profile and results of percutaneous transvenous mitral commissurotomy in mitral restenosis following prior percutaneous transvenous mitral commissurotomy vs surgical commissurotomy.

Background: Patients with mitral restenosis who have undergone prior PTMC or surgical commissurotomy have increased. Predictors of outcome of repeat PTMC in either subgroup of patients may be different.

Aims And Objectives: Aim was to assess and compare the immediate results of PTMC in patients who had undergone a prior PTMC or surgical commissurotomy.

Transcatheter right ventricular outflow tract stenting in children with postoperative infundibular stenosis and preserved pulmonary valve function.

Recurrent or residual right ventricular outflow tract obstruction after early surgical repair of congenital heart disease is one of the most frequent indications for either surgical or transcatheter reintervention. Transcatheter stent implantation across the stenotic right ventricular outflow tract or conduit is a safe and effective alternative to surgical reintervention. However, chronic deleterious effects of pulmonary regurgitation can potentially counterbalance the early improvement in clinical and hemodynamic parameters, sometimes necessitating further intervention.

Surgical management of severe neonatal hyperparathyroidism: one center's experience.

Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that presents early with severe hypercalcemia. We reviewed our experience with NSHPT management at a tertiary-care institution.

Methods: A retrospective chart review was conducted for patients managed for NSHPT over the last 10 years.

Hydatid cyst of the right ventricle, liver and lungs.

Cardiac Echinococcosis is a rare and the most serious of all hydatid manifestations. We report here a case of 27 year old female who had hydatid cyst in the liver, lungs & right ventricle. The cardiac hydatid cyst was operated and numerous daughter cysts were removed.