Expanding the spectrum of Grik2 mutations: intellectual disability,behavioural disorder,epilepsy and dystonia

Isolated congenital anosmia (ICA) is a rare disorder, where otherwise healthy individuals present with an inability to smell since birth. A list of studies have described the genes involved in syndromic anosmia; however, the genetics of ICA is still in its infancy. Studies in mice show that the cyclic nucleotide‐gated channel subunit CNGA2, expressed in the olfactory epithelium has a crucial role in olfactory signal transduction. We have identified a novel X‐linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with ICA using exome sequencing. No additional mutations in CNGA2 were identified in a cohort of 31 non‐related ICA individuals. Magnetic resonance brain imaging revealed diminished olfactory bulbs and flattened olfactory sulci. This is the first report of a mutation in the cyclic nucleotide‐gated gene CNGA2 and supports the critical role of this gene in human olfaction.     

Prevalence of hepatitis-C virus RNA in serum and throat washings of children with chronic hepatitis

Serum samples from 46 children with chronic and probably transfusion acquired hepatitis were tested for the presence of hepatitis C virus (HCV) RNA by a “nested” polymerase chain reaction (PCR) assay, to judge a possible risk of HCV transmission from these patients. In 73% of the samples, viral RNA was detected, indicating a high virus prevalence in this patient group. High titers of HCV-RNA were observed in some sera as shown by the detection of virus in some samples even at dilutions of 10^?3. Comparison of simultaneously obtained PCR results and ALT values revealed no significant correlation between virus presence in serum and higher ALT levels. It was, however, shown that unusually high ALT values may reflect a high titer of viral RNA in serum. To investigate the prevalence of viral RNA in saliva, which could be a vehicle of virus transmission, 35 throat washing samples from the HCV-infected children were screened by PCR. Using three different sample preparation procedures, 20% of the throat washings were found to be positive for HCV-RNA. This indicates a prevalence of virus in this fluid lower than that reported previously. © 1994 Wiley-Liss, Inc.     

TiMeDDx — A multi-phase anchor-based diagnostic decision-support model

Main Clinical Manifestation (MCM)-oriented diagnosis starts with a chief problem and reasons about possible diagnoses that can be manifested in that way. The reasoning process often starts by considering abstract diagnosis groups (e.g., infectious vs. non-infectious diarrhea) and refines them. Most existing diagnostic decision-support systems (DSSs) are not specially tailored toward assisting non-expert physicians in the proper and efficient investigation workup of MCM-oriented diagnosis. We developed a prototype diagnostic decision-support model called TiMeDDx that is MCM-oriented and follows the hypothetico-deductive clinical reasoning process of differential diagnosis. The model guides users in a phase-by-phase manner regarding abstract diagnosis groups and diagnoses that should be considered and appropriate data that should be collected during the clinical investigation process. TiMeDDx’s knowledge base contains, when possible, knowledge derived from MCM-oriented evidence-based sources. We explain the knowledge model and diagnostic algorithms (Bayesian and heuristic) of TiMeDDx, using the clinical problem of diarrhea as a case study, and contrast TiMeDDx with models of existing diagnostic DSSs.     

Kidney transplantation from pediatric donors: size-match-based allocation

Abstract:  Use of kidneys from pediatric donors has been associated with worse outcome. We review our 20-yr experience using pediatric kidneys as single grafts in children and adult recipients. Charts review of 29 recipients, transplanted between 1986 and 2005, who received a graft from a donor ≤6 yr was performed. One recipient received "en bloc" graft and the remaining patients received a single kidney. Nine recipients were adults and 21 were children. Creatinine at discharge and at follow-up was recorded and actuarial graft and patient survivals were calculated using life table analysis. All 29 recipients are alive at mean follow-up of 92 months. Five grafts were lost for: primary non-function (1), recurrent FSGS at 14 month (1) and chronic rejection (3). All five recipients who lost their graft received a graft from donors ≤3 yr. Mean calculated GFR (Schwartz formula) at one and five yr were 84.2 mL/m²/1.73 and 98.3 mL/m²/1.73, respectively. Actuarial graft survival was 93.2%, 89.6%, and 81.9% at one, five and at 10 yr after transplant. The use of a single kidney graft from pediatric donors yields good long-term results. Kidneys from small pediatric donors should be allocated first to matched-weight recipients but otherwise can be transplanted in older children or in adults.     

Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis

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Producción científica en educación médica en Latinoamérica en Scopus, 2011-2015

Objective

To describe the scientific production in medical education in Latin America in Scopus, in the period 2011-2015.

Isolation,Replication and Polyhedrin Gene Sequence of an Israeli Helicoverpa Armigera Single Nucleopolyhedrovirus

A local strain of Helicoverpa armigera baculovirus was isolated from infected H. armigera larvae. Infectivity to Helicoverpa cells, restriction enzyme analysis and electron microscopy allowed its identification as a single embedded nucleopolyhedrovirus, designated HaSNPV-IS. Analysis of DNA replication, protein synthesis and polyhedrin expression in HaSNPV-infected cells located the late and very late phases of the viral cycle at 24 and 48 h after infection, respectively. The viral polyhedrin gene was isolated and characterized. It encoded for a polypeptide of 246 amino acid residues. A 32 kDa polypeptide was identified by immunoblot analysis using anti-polyhedrin antiserum. The HaSNPV-IS polyhedrin DNA sequence revealed 99.4% of homology to the HzSNPV polyhedrin. The availability of this efficient replication system and the above knowledge paves the way to future genetic engineering of the HaSNPV. This revised version was published online in July 2006 with corrections to the Cover Date.     

A water-borne epidemic of tularemia in Chlumcany

During an epidemic of tularaemia in Chlumcany in December 2000 48 people, 36 adults, 12 children fell ill. In the patients the oroglandular form predominated which was diagnosed 46 times. None of the patients died. The vehicle of the infection was inadequately treated water which was used by the patients for the preparation of soda water and for washing. Using the polymerase chain reaction francisellae were detected in two water samples.