ABSTRACT
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. This variant, c.325-47_374del, in the SFTPC gene has not yet been described in the literature. Despite an experimental therapy with hydroxychloroquine, the baby girl died on Day 162.
ABSTRACT
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 45â¯minutes of resuscitation efforts, the cardiac activity was restored. During hospitalization, she had ventricular arrhythmia and extremely elevated cardiac troponin levels. Internal examination and immunohistochemistry revealed cardiac fibromas of the right and left ventricles and extensive hypoxic myocardial damage. The right ventricular fibroma demonstrated interdigitating and entrapped myocardium visible at the edges and within the central portion of the tumor. The left ventricular fibroma originated in the subepicardial region and propagated towards the endocardium.
ABSTRACT
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. We present a case of neuronal ceroid lipofuscinosis with cardiac involvement diagnosed post-mortem in a 9,5-year-old boy, whose clinical symptomatology comprised partial epilepsy, psychomotor decline and sinus bradycardia. In contrast to ventricular hypertrophy, being more frequently associated with NCLs, we discovered cardiac atrophy. Histologic examination of the heart revealed not only the lipofuscinosis affecting cardiac conducting cells and cardiomyocytes, but also basophilic degeneration of myocardium.
Subject(s)
Neuronal Ceroid-Lipofuscinoses , Child , Child, Preschool , Humans , MaleABSTRACT
According to literary data the use of central venous catheters (CVC) is burdened with a significantly higher number of complications than a peripheral venous approach. The management of these complications is difficult and may increase the morbidity and even mortality of critically sick patients. This is why there is such emphasis on the prevention of these serious complications. Strict antiseptic procedures are an absolute must when handling such catheters. To prevent catheter sepsis, as well as any contamination and colonization of a central venous catheter, it is essential to insert such a catheter under aseptic conditions; it calls for handling in a sterile manner and the same applies to all tubing and other connecting systems and to the preparation of infusion liquids and drugs. Moreover, the site of insertion has to be correctly selected and the catheter left in place only for the absolutely necessary time. Most effective in the prevention of catheter infections are the so-called maximum barrier measures applied to the insertion of CVCs.
Subject(s)
Catheterization, Central Venous/adverse effects , Sepsis/prevention & control , Catheterization, Central Venous/methods , Catheters, Indwelling/adverse effects , Child , Humans , Sepsis/etiologyABSTRACT
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. There were 26 multi-lumen catheters (11.927 %) and 192 single-lumen catheters (88.073 %). The mean indwelling period was 10.1 days per 1 CVC. Blood for microbiology was removed by a physician from the CVC after disinfecting its opening under standard sterile conditions into a commercial sampling vessel HEMOD (Imuna, Sarisske Michalany, Slovak Republic) or into a vessel of an automated haemoculture system BactecPeds PLUS/F (Becton Dickinson and Comp., Spark,MA, USA). When removing the tip of the CVC we disinfected, before removing the CVC, the area around the insertion with isopropyl or ethyl alcohol. We released the fixed CVC and 1 minute after disinfection we pulled out the CVC and cut off the end or rather the tip of the catheter (approx. 1-3 cm of the tip) into a sterile test tube. To establish the diagnosis of infectious complications we used the 1995 Sirges-Serra classification and the CDC criteria. RESULTS: In 5 years (1995-1999) we had 71 infectious complications. There were 31 contaminated catheters, 27 cases of catheter sepsis and 11 cases of catheter bacteraemia. With 147 catheters (67.43%) there were no infectious complications. Dominant microbes were Staphylococcus epidermidis (32 cases - 11 from haemocultures and 21 from CVCs) and Candida spp. (30 cases, 17 from haemocultures and 13 from CVCs). Among the microbiological agents of catheter sepsis predominated Gram-negative bacteria. Out of the whole analysed group 41 children (24.8 %) died. CVC as the cause of death was demonstrated in 6 children (3.636 % of patients with CVC). CONCLUSIONS: Microbiological findings in our group are in line with literary data. To reduce the incidence of infectious complications it is important to limit sampling from CVC to a minimum. Insertion of CVCs under strict sterile conditions and aseptic handling of all entries into the central bloodstream reduces to a minimum the risk of infectious complications.
