Medicina
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Background and Objectives: Intradialytic hypotension (IDH) complicates 4 to 39.9% of hemodialysis (HD) sessions. Vessels' reactivity disturbances may be responsible for this complication. Two-dimensional speckle tracking is used to assess arterial circumferential strain (CS) as a marker of the effectiveness of the cardiovascular response to the reduction of circulating plasma. ⋯ IDH patients had a significantly higher UF rate; however, they did not differ compared to complication-free patients either in anthropometric or laboratory parameters. Conclusions: Patients with IDH were characterized by lower pre- and post-HD circumferential strain of the common carotid artery. The lower CCA-CS showed that impaired vascular reactivity is one of the most important risk factors for this complication's occurrence.
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Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan. ⋯ The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene. The variant is predicted as pathogenic by different In silico prediction tools.
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Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well as congenital cataracts have been most frequently described until now. ⋯ Moreover, a novel mutation (p. Gln694Ter) in the ZEB2 gene was found corresponding to this syndrome entity. This report allows us to gain a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS syndrome patients.