Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).

Loss of function variants in ALPK3 have been associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). However, the underlying pathomechanism remain largely unknown. Here, we generated human iPSC lines from four HCM patients carrying the heterozygous pathogenic variant in ALPK3 (c.2023delC p.Gln675fs). Peripheral blood mononuclear cells (PBMCs) from patients were reprogrammed to induced pluripotent stem cells (iPSCs) with the Sendai virus-based reprogramming method. All four lines display typical iPSC morphology, normal karyotype, expression of pluripotency-associated markers, and trilineage differentiation potential. These iPSC lines represent a valuable resource of ALPK3 patient-derived iPSC lines to the study ALPK3-associated cardiomyopathy.

To cut or not to cut? A case report on pediatric intervertebral disc calcification.

BACKGROUND: Intervertebral disc calcification (IVDC) is a rare cause of acute spinal pain in pediatric patients. The most common symptom is back or neck pain, but muscle spasm, muscle weakness, and sensory loss also occur. Many patients have an alarming presentation and radiological findings concerning for spinal cord compression. CASE DESCRIPTION: A 10-year-old female presented with 2 weeks of worsening back pain and restricted neck flexion with no history of preceding trauma. Magnetic resonance imaging (MRI) showed T4/5 and T5/6 vertebral disc calcification and posterior herniation causing thoracic spinal cord compression. Despite concerning imaging findings, we decided to manage this patient conservatively with nonsteroidal anti-inflammatory drugs, leading to the improvement of symptoms within 9 days, and resolution of all pain within 1 month after hospital discharge. At 6 months follow-up, MRI showed complete resolution of calcification within the spinal canal. CONCLUSION: This case report emphasizes IVDC as an important differential diagnosis of pediatric disc disease that does not require surgical intervention. X-ray imaging with PA and lateral views is an adequate screening for these patients. Majority of cases resolve within 6 months with conservative therapy.