Novel surfactant C variant c.325-47_374del without response to hydroxychloroquine treatment.

Pathogenic variants of SP-C, which cause various lung diseases with varying ages of onset, are inherited in an autosomal dominant manner or appear de novo as new mutations. We present a case of fatal respiratory failure in a female infant. Genetic analysis confirmed an intragenic deletion encompassing exon 4 in the SFTPC gene, starting in the intron region before exon 4, extending into the exon 4 and portion, in a heterozygous state.

Ventricular fibrillation and arrhythmia associated with cardiac fibromas involving both ventricles in a 1.5-year-old girl.

This article reports the autopsy findings of a 1.5-year-old girl with no history of previous hospital admission who suddenly collapsed at home. After 45 minutes of resuscitation efforts, the cardiac activity was restored.

Neuronal ceroid lipofuscinosis with cardiac involvement.

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with clinical presentation predominantly in the childhood. The NCLs represent lysosomal storage disorders characterized by the accumulation of autofluorescent lipopigment storage material. The most common clinical features include development failure, psychomotor regression, seizures, and progressive loss of vision.

Insulin treatment in diabetics 75+ years: experiences and results in outpatient care.

Diabetes mellitus (DM) has a crucial impact on personal and social health. In the very old age it significantly affects also the social status of the individual. In the elderly 75+ y.

[Microbiological findings in children with an indwelling central venous catheter].

Introduction: Besides their obvious advantages for the patient, central venous catheters (CVC) also carry the risk of possible infectious complications. The purpose of our investigation was to carry out a microbiological evaluation of a 5-year set of paediatric patients with indwelling CVCs.

Patients And Methods: In the group were 218 CVCs inserted to 165 children over a period of 5 years.