Background: Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare hereditary neuropathy caused by NTRK1 gene mutations, predisposing patients to recurrent infections and chronic wounds. Long-term studies on microbial and clinical outcomes in CIPA are limited. This study presents analysis of infection patterns, antibiotic resistance, and clinical outcomes in CIPA patients.
View Article and Find Full Text PDFJ Inherit Metab Dis
September 2024
Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra-rare autosomal-recessive inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes. With approximately 30 patients reported to date, DLD deficiency was associated with three major clinical presentations: an early-onset encephalopathic phenotype with metabolic acidosis, a predominantly hepatic presentation with liver failure, and a rare myopathic phenotype. To elucidate the demographic, phenotypic, and molecular characteristics of patients with DLD deficiency within the Israeli population, data were collected from metabolic disease specialists in four large tertiary medical centers in the center and south of Israel.
View Article and Find Full Text PDFFerroelectric hafnium zirconium oxide (HZO) holds promise for nextgeneration memory and transistors due to its superior scalability and seamless integration with complementary metal-oxide-semiconductor processing. A major challenge in developing this emerging ferroelectric material is the metastable nature of the non-centrosymmetric polar phase responsible for ferroelectricity, resulting in a coexistence of both polar and non-polar phases with uneven grain sizes and random orientations. Due to the structural similarity between the multiple phases and the nanoscale dimensions of the thin film devices, accurate measurement of phase-specific information remains challenging.
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