Impact of genetic test interpretation on a missense variant in Cohen syndrome.

Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.

Massive hemothorax following internal jugular vein catheterization under ultrasound guidance: A case report.

Background: Hemothorax is a rare but life-threatening complication of central venous catheterization. Recent reports suggest that ultrasound guidance may reduce complications however, it does not guarantee safety.

Case Summary: A 75-year-old male patient was admitted for laparoscopic radical nephrectomy.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca pumps that participate in the regulation of intracellular free Ca. Here, we clinically describe a cohort of 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay.

Fatal rhabdomyolysis and disseminated intravascular coagulation after total knee arthroplasty under spinal anesthesia: A case report.

Background: Rhabdomyolysis develops as a result of skeletal muscle cell collapse from leakage of the intracellular contents into circulation. In severe cases, it can be associated with acute kidney injury and disseminated intravascular coagulation, leading to life threatening outcomes. Rhabdomyolysis can occur in the perioperative period from various etiologies but is rarely induced by tourniquet use during orthopedic surgery.