Search results for "init"
showing 10 items of 6629 documents
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
2013
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation, c.101−1G>C, which alters pre-mRNA splicing of ARLBP2 in blood RNA, was identified. In another family, a homozygous c.134T>G (p.Met45Arg) mutation was identified. In the mouse retina, ARL2BP localized to the basal body and cilium-associated…
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
1995
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
The Decreasing Prevalence of the Arcuate Foramen
2018
[Background]: The arcuate foramen (AF), or ponticulus posticus, is an anatomic variant of the first cervical vertebra that consists of a complete or partial osseous bridge over the groove for the vertebral artery and extends from the posterior aspect of the superior articular facet to the superior lateral border of the posterior arch. The AF has been associated with clinical symptoms, such as headache, migraine, neck pain, shoulder pain, arm pain, and vertebral artery dissection. We aimed to test whether the prevalence of the AF has decreased in the modern human population over the past centuries as a result of reduction in inbreeding and endogamy.
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
2011
Abstract Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results As a result, a total of 144 DNA sequence variants were identified.…
Relationship between specific serum IGE to Ascaris lumbricoides and onset of respiratory symptoms in Bangladesh immigrants
2006
The role of helminths in asthma and/or rhinitis and in allergic sensitization is still unclear. We assessed the relationship between Ascaris-specific IgE, respiratory symptoms and allergic sensitization in Bangladesh immigrants. 246 individuals were examined from 1996 to 2001. Serum total IgE, Ascaris IgE, specific IgE to inhalant allergens, skin prick tests (SPT) and parasitological evaluation of the stool were performed. Total serum IgE were significantly higher in Ascaris-IgE positive (> 0.35 kU/L) individuals (806.5 [409.0–1436.0] kU/L vs. 207.0 [127.0–332.5] kU/L; P < 0.0001) and in subjects with respiratory symptoms (413.0 [239.0–1096.0] kU/L vs. 259.5 [147.0–387.0] kU/L), ( P …
Assessment of the Relationship Between the Use of Birth Control Pill and the Characteristics of Mate Selection
2014
Abstract Introduction In recent research, scientists have begun to suspect that birth control pill use could interfere with key mechanisms that play a role when women choose a sexual partner. Many studies have shown that women, particularly during the most fertile days of their menstrual cycle, look for specific physical, psychological, and behavioral characteristics indicative of genetic quality in a short‐term partner. Aims Analysis of the psychometric properties of the Partner's Masculinity Index (PMI) scale. The scale was built to assess the degree of masculinity in hypothetical short‐term partners. Methods A total of 395 female Italian volunteers from Central Italy (M = 32.9 years old,…
Intravitreal foscarnet for cytomegalovirus retinitis in a patient with acquired immunodeficiency syndrome.
1992
We treated a patient who had acquired immunodeficiency syndrome and cytomegalovirus retinitis of the left eye. After anesthetic had been topically administered, the patient received intravitreal injections of 1,200 micrograms of foscarnet. Plasma and vitreous foscarnet levels were measured by high-performance liquid chromatography. Systemic absorption of the drug was not evident. Elimination half-life from the vitreous after one injection was 54.0 hours. Vitreous levels remained above the mean 50% inhibition value for cytomegalovirus for approximately 56 hours and above the mean inhibition value for human immunodeficiency virus for approximately 241 hours. The patient's visual acuity improv…
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Knowledge, Attitudes, and Practices on Energy Drink Consumption and Side Effects in a Cohort of Medical Students
2015
The purpose of this study was to evaluate knowledge, attitudes, and practices concerning energy drink consumption and the prevalence of side effects among medical students. Twenty-two percent of respondents were regular users, particularly men (p < .0005). Users were younger (p = .027) and drank alcohol more frequently (p = .008) than "non-users." Forty-nine percent consumed alcohol associated with energy drinks. Forty-five percent of medical students declared side effects after energy drink consumption, such as palpitations (35%), insomnia (21%), and irritability (20%). The study confirms a large use of energy drinks among students and the occurrence of side effects. The use of energy drin…
Effects of cold atmospheric plasma (CAP) on bacteria and mucosa of the upper aerodigestive tract.
2019
Abstract Objective Ear, nose and throat infections are among the most common reasons for absence from work. They are usually caused by various bacteria like Haemophilus influenzae, Staphylococcus aureus, Streptococcus pneumoniae and Streptococcus pyogenes. Cold atmospheric plasma (CAP) can effectively eliminate even multi-resistant bacteria and has no cytotoxic or mutagenic effects on the mucosa when applied for less than 60 s. Aim of the study was to evaluate the effects of CAP on common ENT bacteria and on the mucosa of the upper aerodigestive tract. Methods The bactericidal effects of CAP against the bacteria most commonly causing ENT infections were investigated using the colony-forming…