Medicine
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Tuberculous meningitis is a highly morbid, often fatal disease. ⋯ Despite the prompt specific anti-tubercular and adjuvant corticosteroid therapies, only the addition of thalidomide to the treatment allow to a favorable clinical outcome.
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Mild encephalitis/encephalopathy with a reversible splenial lesion is a clinico-radiological syndrome mainly triggered by viral infection. Bacteria, like listeria monocytogenes, are relatively rare pathogens. ⋯ We diagnosed this case as mild encephalitis/encephalopathy with a reversible splenial lesion caused by listeria monocytogenes. The patient recovered completely clinically and on imaging, without any specific immunomodulatory treatment. It also indicated IL-6 may play a role in the forms of hyponatremia in mild encephalitis/encephalopathy with a reversible splenial lesion.
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Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial dysmorphism, extremities anomalies, deafness, cleft palate and eye anterior segment anomalies, yet none of the complications, such as acro-osteolysis, keratitis, xerosis or poikiloderma, have been reported in FMD. ⋯ To our knowledge, it's the first report of cases carrying FMD, keratitis, xerosis, poikiloderma and acro-osteolysis simultaneously, and 3 likely pathogenic variants were identified. Whole genome/exon sequencing is recommended as a common test for patients with rare phenotypes.
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Observational Study
Influence of SIRT1 polymorphisms for diabetic foot susceptibility and severity.
The present study aimed to explore the influence of sirtuin 1 (SIRT1) polymorphisms (rs12778366 and rs3758391) on diabetic foot (DF) susceptibility and severity in patients with type 2 diabetes mellitus (T2DM). This case-control study recruited 142 patients with DF, 148 patients with T2DM, and 148 healthy controls. SIRT1 gene polymorphisms were sequenced by polymerase chain reaction (PCR) and direct sequencing method. ⋯ In addition, compared to healthy control and T2DM cases, patients with DF exhibited significant downregulation of SIRT1. The 2 studied polymorphisms had no effects on its gene expression (P > .05 for all). SIRT1 rs12778366 polymorphism C allele might act as a protective factor for DF onset.
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Observational Study
Epidemiological study on accidental poisonings in children from northeast romania.
Accidental poisonongs are an important cause of morbidity and even mortality, especially in young children. We performed a retrospective observational study on a group of children admitted at the Regional Center of Toxicology at the Children's Emergency Hospital "St. Mary" Iasi with accidental intoxication within a period of 3 years. ⋯ Accidental drug intoxication accounted for 33% of the cases, the main drugs involved being anticonvulsants, nonsteroidal anti-inflammatory drugs, and paracetamol. The mortality caused by accidental poisoning was 0.62%, all deaths owing to nonmedication intoxication. Identifying the epidemiological and evolutionary aspects of accidental intoxications must be a major objective for the health system, given that this pathology can be at least partially avoided and its incidence and severity may be reduced using appropriate measures.