Genome-wide CRISPR Screens Reveal Host Factors Critical for SARS-CoV-2 Infection

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Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions

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Finger-print patterns in parents of children with Down Syndrome

Finger-prints of the parents of thirty four Down children were compared with thirty four couples with two or more normal children without a family history of genetic problems. The parents with children affected by translocation Down Syndrome and those with mosaicism were excluded. A comparison of the figure distributions in each of the fingers of the two groups shows a different distribution. Parents of children affected by Down Syndrome occupy an intermediate position between the parents of normal children and the subjects affected by Down Syndrome. The total sum of values of A (arch), Lu (ulnar loop), Lt (radial loop) and W in each of the groups were also compared using a contingency table. A significant difference (p<0,05) was found between both groups. The differences are imputed to the variables A and L.     

The role of infectious agents in sudden infant death syndrome

Abstract Epidemiological factors associated with susceptibility to respiratory infections are similar to those associated with Sudden Infant Death Syndrome. Here we review the evidence that respiratory pathogens might be involved in some cases of Sudden Infact Death Syndrome in the context of factors identified in epidemiological studies of cot deaths: the age range affected; mother's smoking; respiratory viral infections; immunisation status. Both laboratory and epidimiological evidence suggests that vulnerability of infants to infectious agents depends on interactions between genetic, developmental and environmental factors that contribute to colonisation by microorganisms, the inflammatory and specific immune responses and the infants' physiological responses to inflammatory mediators. A model is proposed to explain how microorganisms might trigger a series of events resulting in some of these unexpected deaths and discusses how the present recommendations regarding child care practices might help reduce the numbers of Sudden Infant Death Syndrome cases associated with infectious agents.     

Factores de riesgo asociados a fallecimiento por la variante ómicron de COVID-19: análisis retrospectivo con personas mayores de Canarias

Background and aimsSince the beginning of the COVID-19 pandemic, the elderly population has had the highest rates of complications and mortality. This study aimed to determine the influence of different risk factors on deaths due to the Omicron variant in the Canary Islands.Materials and methodsA retrospective observational study of 16,998 cases of COVID-19 over 40 years of age was conducted in the Canary Islands between August 1, 2022, and January 31, 2023. We extracted sociodemographic data (age and sex) and clinical data (death, vaccination history, hospital admission, previous diseases, and treatments).ResultsAmong the deaths, there was a higher proportion of males aged over 70 years, with diabetes, cardiovascular, renal, respiratory, and systemic diseases, and nursing home residents. Significant differences were observed in the number of doses of the vaccine. The multiple regression model showed that male sex (OR [95% CI] = 1.92 [1.42–2.58]), age (70–79 years, 9.11 [4.27–19.43]; 80–89 years, 21.72 [10.40–45.36]; 90–99 years, 66.24 [31.03–141.38]; 100 years or older, 69.22 [12.97–369.33]), being unvaccinated (6.96, [4.01–12.08]), or having the last dose administered at least 12 months before the diagnosis (2.38, [1.48–3.81]) were significantly associated with mortality.ConclusionsMultiple factors may increase the risk of mortality due to COVID-19 in the elderly population. In our study, we found that only three predictors can effectively explain the variability: older age, male sex, and not being vaccinated or last vaccination date prior to one year.     

A Turkish family with Nance-Horan syndrome due to a novel mutation

Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. We describe two brothers who have the NHS phenotype and their carrier mother who had microcornea but not cataract. We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). We also discussed genotype–phenotype correlation according to relevant literature.     

Rehabilitation management in two siblings with Von Hippel-Lindau syndrome: A case series

Von Hippel Lindau (VHL) is a hereditary multiple neoplasia syndrome. We report a case series of two siblings with Von Hippel Lindau (VHL) disease admitted to the rehabilitation department after surgical excision of Central Nervous System (CNS) haemangioblastomas. These clinical cases present rehabilitation challenges in VHL disease. We present a 39-year-old brother and his 45-year-old sister, with the diagnosis of incomplete spinal cord injury (SCI) associated with VHL syndrome lesions. The female patient was diagnosed with chronic motor incomplete cervical SCI and the male patient with acute motor incomplete thoracic SCI. Our target was to increase their functionality and improve their quality of life. Both underwent a comprehensive inpatient rehabilitation program. Programs were individualized as the female patient was admitted 15 years after her spinal cord surgical intervention, while the male patient’s admission was after 4 months of his surgery.     

Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome

DNA methylation gradiently changes with age and is likely to be involved in aging-related processes with subsequent phenotype changes and increased susceptibility to certain diseases. The Hutchinson-Gilford Progeria (HGP) and Werner Syndrome (WS) are two premature aging diseases showing features of common natural aging early in life. Mutations in the LMNA and WRN genes were associated to disease onset; however, for a subset of patients the underlying causative mechanisms remain elusive. We aimed to evaluate the role of epigenetic alteration on premature aging diseases by performing comprehensive DNA methylation profiling of HGP and WS patients. We observed profound changes in the DNA methylation landscapes of WRN and LMNA mutant patients, which were narrowed down to a set of aging related genes and processes. Although of low overall variance, non-mutant patients revealed differential DNA methylation at distinct loci. Hence, we propose DNA methylation to have an impact on premature aging diseases.     

Sizeable acquired subglottic cyst in a baby with Williams–Beuren syndrome: Association or coincidence?

We describe a case of an acquired subglottic cyst presented with persistent stridor and voice hoarsening in a baby diagnosed with Williams–Beuren syndrome that was born premature and required intubation during neonatal period. We also comment on whether this is a coincidence or there can be an association between impaired elastogenesis, a feature of patients with the syndrome and the formation of a subglottic cyst.