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X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.

A pedigree of X-linked ocular albinism is presented containing nine affected males and 10 heterozygous females. One carrier female showed ocular changes similar to those of affected males. She is considered to be a manifesting heterozygote, a situation explained by the Lyon hypothesis. One affected male married a female with autosomal recessive ocular albinism and produced one daughter with the fundus changes of the carrier state of X-linked ocular albinism, and one son with normal eyes. The daughter did not show any evidence of the additive effect of the two different genes for X-linked and a…

Epidemiologic evaluation of the immunity against hepatitis B in Alexandria, Egypt.

BACKGROUND: Hepatitis B (HB) vaccine represents one of the major achievements in the 20th century. The most important epidemiologic factor affecting the chronic carrier rate is age of infection. The earlier in life an infection occurs, the higher the probability that this infection will result in chronic carriage. METHODS: A seroepidemiologic study was conducted to examine the impact of HB vaccination on the carrier state among a vaccinated group of children (1000) compared to a non-vaccinated group (500) aged 6 years in Alexandria, Egypt. RESULTS: The rate of HbsAg positivity among the vacc…

Identification of bovine leucocyte adhesion deficiency (BLAD) carriers in Holstein and Brown Swiss AI bulls in Iran.

BLAD is a hereditary disease in Holstein dairy cattle. The defective allele of CD18 gene which is responsible for this disease has a recessive inheritance. The recessive homozygous form (BL/BL) is lethal and since carrier animals have viability, BLAD frequency increases by use of carrier bulls in Artificial Insemination (AI). BLAD carriers can be detected easily by means of polymerase chain reaction followed by restriction analysis of the amplicons. In this study DNA samples from Holstein (n = 30) and Brown Swiss (n = 10) bulls from Abbas Abad AI center (Khorasan state of Iran) were analysed.

Beta-thalassemia.

Beta-thalassemia is caused by the reduced (beta) or absent (beta) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e., the beta-thalassemia carrier state, thalassemia intermedia, and thalassemia major. The beta-thalassemia carrier state, which results from heterozygosity for beta-thalassemia, is clinically asymptomatic and is defined by specific hematological features. Thalassemia major is a severe transfusion-dependent anemia. Thalassemia intermedia comprehend a clinically and genotypically ver…

Acute effects of cannabinoids on addiction endophenotypes are moderated by genes encoding the CB1 receptor and FAAH enzyme.

Understanding genetic factors that contribute to cannabis use disorder (CUD) is important, but to date, findings have been equivocal. Single-nucleotide polymorphisms (SNPs) in the cannabinoid receptor 1 gene (CNR1; rs1049353 and rs806378) and fatty acid amide hydrolase (FAAH) gene (rs324420) have been implicated in CUD. Their relationship to addiction endophenotypes such as cannabis-related state satiety, the salience of appetitive cues, and craving after acute cannabinoid administration has not been investigated. Forty-eight cannabis users participated in a double-blind, placebo-controlled, f

Efficacy of commercially available vaccines against canine leptospirosis: A systematic review and meta-analysis.

BACKGROUND: Leptospirosis is a worldwide distributed zoonosis that affects most mammal species, including dogs and humans. Vaccination is the main strategy to control disease and urinary shedding of leptospires in dogs; however, there are few studies in the literature reporting the efficacy of commercially available vaccines. OBJECTIVES: To access and compare the efficacy of commercially available leptospiral vaccines dogs using a quali-quantitative systematic review. METHODS: The main outcome of interest was the ability to protect dogs against clinical disease and renal carrier state, as we…

Cation Influence on Hot-Carrier Relaxation in Tin Triiodide Perovskite Thin Films.

Slow hot-carrier cooling may potentially allow overcoming the maximum achievable power conversion efficiency of single-junction solar cells. For formamidinium tin triiodide, an exceptional slow cooling time of a few nanoseconds was reported. However, a systematic study of the cation influence, as is present for lead compounds, is lacking. Here, we report the first comparative study on formamidinium, methylammonium, and cesium tin triiodide thin films. By investigating their photoluminescence, we observe a considerable shift of the emission peak to high energy with the increase of the excited-s

Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy.

A 40 year-old woman presented to hospital with 12h of progressive shortness of breath. She was 11 days postpartum, having delivered a full-t … trophy (DMD) and she tested positive as a carrier of the mutant gene. It is unclear whether the DMD carrier state alone is associated with increased susceptibility to PPCM or if this is merely the first expression of cardiomyopathy in a previously asymptomatic carrier.

Enterotoxigenic Escherichia coli as a Modulator of the Entero-Pulmonary Axis in Piglets: Impacts on the Microbiota and Immune Responses.

The high prevalence of enterotoxigenic Escherichia coli (ETEC) in nondiarrheic piglets contributes to its rapid spread; however, few studies … he investigated animals. Although no significant changes in diversity rates were seen based on ETEC-carrier state, our findings suggest that ETEC's presence can cause dysbiosis in the gut and lung in asymptomatic and diarrheic piglets, reinforcing the crosstalk in the entero-pulmonary axis. We also identified potential bacterial biomarkers that can be used to m …

The challenges of integrating an immigrant population with chronic hepatitis B into long-term hepatology care: Lessons learned from a Bronx West African screening program.

OBJECTIVES: Hepatitis B virus (HBV) is endemic in West Africa. Because of immigration to the United States, screening and transition to long … uation. Among 56 HBV treatment-naïve individuals, 66.1% had a serologic profile consistent with the carrier state. A total of 10 (18.2%) individuals met the criteria for HBV therapy, and 10 (21.7%) had ≥F2 fibrosis on TE. There was no correlation between aspartate aminotransferase to platelet ratio index and Fibrosis index-4 scores and TE. Eight (29.6%) of 27 p …

Manipulation of the electric state of the CdSe/ZnSe QD with a single Fe2+dopant.

We demonstrate electrical control over the charge state of a CdSe/ZnSe quantum dot doped with a single Fe2+ion, enabling precise tuning of excitonic configurations and the determination of exchange interactions between the magnetic dopant and selected confined excitonic complexes. Using polarization-resolved magneto-photoluminescence spectroscopy, we systematically investigated the spin-dependent coupling between Fe2+and individual carriers across various excitonic charge states. By applying an external voltage, we stabilized neutral, negatively charged, and positively charged excitons, allowi

Assessment of radon and carrier gases in an underground gold mining company in Ghana.

Previous studies in Ghanaian mines have largely focused on radon concentration and associated health risk, with limited investigation into the role of carrier gases that influence radon transport from bedrock. This study evaluates radon (222Rn) levels, carrier gases (CO2, H2S, CH4), and their associated health risks in an underground section of the AngloGold Ashanti mine. Measurements were conducted in two phases using CR-39 solid-state nuclear track detectors and a Ventis Pro5 multi-gas detector. The average radon concentration across both phases was 214 ± 16 Bq·m-3, with phase-specific means

Vi serology in screening of typhoid carriers: improved specificity by detection of Vi antibodies by counterimmunoelectrophoresis.

A purified soluble Vi antigen was used in counterimmunoelectrophoresis (CIE), passive haemagglutination (HA) and solid phase radio-immunoass … uded that Vi CIE is more specific and no less sensitive than Vi HA for the detection of the typhoid carrier state. The finding by SPRIA that the anti-Vi antibodies present in typhoid carriers' sera were mainly of the IgG class further justified the use of CIE as a precipitation test for their detection.

Дефицит клеток в иммунном комплексе гломерулонефрита.

Мыши, хронически инфицированные вирусом лимфоцита (LCM), развивают иммунный комплекс гломерулонефрита. Другие показали, что приемная иммунизация этих мышей путем ip инъекции клеток синтетического иммунного селезенки прекращает хроническое вирусное состояние. Целью настоящих исследований было определение ячеек-эффекторов из иммунной селезенки, ответственных за иммунную иммунизацию, и определение воздействия этой процедуры на иммунный комплекс нефрита, который происходит у мышей-носителей ЛХМ. Полученные результаты свидетельствуют о том, что ячейка-эффектор при приемной иммунизации представляет

Совпадение в аннотации оригинала
Mice chronically infected with the virus of lymphocytic choriomeningitis (LCM) develop immune complex glomerulonephritis. Others have shown that adoptive immunization of these mice by the i.p. injection of syngeneic immune spleen cells terminates the chronic viral carrier state. The present studies were designed to define the effector cell from the immune sp…

Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: implementation of a protocol to identify only the disease states of sickle cell disease.

BACKGROUND: The currently recommended technologies of HPLC and isoelectric focusing for newborn blood spot screening for sickle cell disease (SCD) identify both the disease and carrier states, resulting in large numbers of infants being followed up unnecessarily. Analysis of blood spot tryptic peptides performed by using tandem mass spectrometry (MS/MS) is an alternative technology to detect hemoglobin (Hb) variant disorders. METHODS: We analyzed 2154 residual newborn blood spots and 675 newborn blood spots from infants with Hb variants by using MS/MS after trypsin digestion. Screening cutoff…

Charge dynamics in covalent organic framework photocatalysts.

Covalent organic frameworks (COFs) are atomically precise, crystalline platforms for efficient solar-to-chemical energy conversion. However, their net efficiency is fundamentally limited by severe kinetic competition, in which ultra-fast exciton recombination outpaces the slower multi-electron kinetics required for surface photocatalytic reactions. This review provides a comprehensive analysis of fundamental exciton dynamics in COF photocatalysts, tracing the photophysical cascade from initial photon absorption and bound electron-hole pair generation to long-range carrier migration and interfa

Connectome-based predictive modeling of brain pathology and cognition in autosomal dominant Alzheimer's disease.

INTRODUCTION: Autosomal dominant Alzheimer's disease (ADAD) through genetic mutations can result in near complete expression of the disease. Tracking AD pathology development in an ADAD cohort of Presenilin-1 (PSEN1) E280A carriers' mutation has allowed us to observe incipient tau tangles accumulation as early as 6 years prior to symptom onset. METHODS: Resting-state functional magnetic resonance imaging (fMRI) and positron emission tomography (PET) scans were acquired in a group of PSEN1 carriers (n = 32) and non-carrier family members (n = 35). We applied connectome-based predictive modelin

Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers.

BACKGROUND: X-linked dystonia-parkinsonism (XDP) is a rare movement disorder characterized by profound neurodegeneration in the basal ganglia. The molecular consequences and the bioenergetic state of affected individuals remain largely unexplored. OBJECTIVES: To investigate the bioenergetic state in male patients with XDP and female carriers using 31phosphorus magnetic resonance spectroscopy imaging and to correlate these findings with clinical manifestations. METHODS: We examined the levels of high-energy phosphorus-containing metabolites (HEP) in the basal ganglia and cerebellum of five ma

The current state of sickle cell trait: implications for reproductive and genetic counseling.

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism. Increasing…

The current state of sickle cell trait: implications for reproductive and genetic counseling.

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism. Increasing…