Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Background: Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. This study aimed to describe the natural history and the molecular findings of patients with HCU, and to assess the importance of early diagnosis.

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.

Key Clinical Message: Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring.

Abstract: Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum-dependent enzymes, resulting in conspicuous elevated urine sulfite levels and lowered serum uric acid levels.

A retrospective analysis of the frequency of heparin-induced thrombocytopenia in the intensive care unit at a tertiary care center in Riyadh, Saudi Arabia.

Background: Heparin-induced thrombocytopenia (HIT) is an extremely serious and potentially fatal condition that can develop in patients taking heparin-based medications, such as unfractionated heparin (UFH) or low-molecular-weight heparin (LMWH). The incidence and risk factors for HIT in critically ill patients, however, are not well defined.

Methods: We retrospectively collected data on HIT test results, route of heparin administration, age, sex, heparin type (UFH or LMWH), and date of illness from patients admitted to the intensive care unit (ICU) and regular nursing floor (non-ICU) at our hospital between January 2011 and December 2014.

Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the gene.

Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O-acyltransferase () gene mutations and is inherited as an autosomal recessive trait. The disorder is characterized by skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory distress.

Prospective Longitudinal Evaluation of Point-of-Care Lung Ultrasound in Critically Ill Patients With Severe COVID-19 Pneumonia.

Objectives: To perform a prospective longitudinal analysis of lung ultrasound findings in critically ill patients with coronavirus disease 2019 (COVID-19).

Methods: Eighty-nine intensive care unit (ICU) patients with confirmed COVID-19 were prospectively enrolled and tracked. Point-of-care ultrasound (POCUS) examinations were performed with phased array, convex, and linear transducers using portable machines.

A randomized study on a 3-month versus a 7-month prednisolone regimen for the initial episode of childhood idiopathic nephrotic syndrome at a large Saudi center.

Background And Objectives: The standard International Study of Kidney Disease in Children (ISKDC) regimen of prednisolone of 2 months duration for the treatment of the initial episode of Idiopathic Nephrotic Syndrome (INS) was associated with a high relapse rate. The long prednisolone protocols were introduced in order to reduce the relapse rate and steroid toxicities. The main objective of this study was to assess the efficacy and safety of a 3 months protocol of prednisolone versus a 7 months protocol for the first episode of idiopathic nephrotic syndrome.

In vitro evaluation of anticancer and antibacterial activities of cobalt oxide nanoparticles.

Cobalt oxide nanoparticles (Co3O4-NPs) were synthesized using simple urea-based thermal decomposition method. Phase purity and particle size of as-synthesized nanoparticles were characterized through X-ray diffraction pattern (XRD) and transmission electron microscopy. Through XRD morphology of the Co3O4-NPs was found to be variable in size with range of 36 nm.