Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureas.

Aligned with the mission of the Dutch Pharmacogenetics Working Group (DPWG) to promote the implementation of pharmacogenetics (PGx), this guideline is specifically designed to optimize pharmacotherapy of cholesterol lowering medication (statins) and glucose lowering medication (sulfonylureas). The SLCO1B1 c.521 T > C variant reduces the activity of the SLCO1B1 transporter involved in statin transport out of the blood into the liver.

POCUS in dyspnea, nontraumatic hypotension, and shock; a systematic review of existing evidence.

Background: Point-of-care ultrasound (POCUS) has been adopted as a powerful tool in acute medicine. This systematic review aims to critically appraise the existing literature on point-of-care ultrasound in respiratory or circulatory deterioration.

Methods: Original studies on POCUS and dyspnea, nontraumatic hypotension, and shock from March 2002 until March 2022 were assessed in the PubMed and Embase Databases.

Spontaneous Splenic Rupture in an Ill Returned Traveller.

Unlabelled: Spontaneous splenic rupture is a known, but rare and possibly fatal, complication of different infectious diseases. We present a case of a 38-year-old male patient who presented with fever, icterus and spontaneous splenic rupture after a visit to Vietnam and discuss the differential diagnosis of splenic rupture in ill returned travellers.

Learning Points: Spontaneous splenic rupture is a rare complication of several tropical diseases, including infection.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. These mitoribosomes are dual-origin ribonucleoprotein complexes, which contain mtDNA-encoded rRNAs and tRNAs and ∼80 nucleus-encoded proteins. An increasing number of gene mutations that impair mitoribosomal function and result in multiple OXPHOS deficiencies are being linked to human mitochondrial diseases.

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Autosomal recessive cutis laxa (ARCL) is a connective tissue disorder characterized by wrinkled, inelastic skin, frequently associated with a neurologic involvement and multisystem disease. Next generation sequencing was performed in genetically unsolved patients with progeroid features, neurological and eye involvement to assess the underlying etiology. We describe an 6 month old child, diagnosed with a novel, homozygous nonsense mutation c.

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

Congenital disorders of N-glycosylation (CDG) form a rapidly growing group of more than 20 inborn errors of metabolism. Most patients are identified at the pediatric age with multisystem disease. There is no systematic review on the long-term outcome and clinical presentation in adult patients.

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes.

Apoptosis and NET formation in the pathogenesis of SLE.

Systemic Lupus Erythematosus is an autoimmune disease characterized by the formation of anti-nuclear autoantibodies, particularly anti-chromatin. Although the aetiology of the disease has not yet been fully elucidated, several mechanisms have been proposed to be involved. Due to an aberrant apoptosis or decreased removal of apoptotic cells, apoptotic blebs containing chromatin are released.