BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as definitive, strong, moderate, and limited on the basis of available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be disputed or refuted. OBJECTIVE: We assessed genes related to primary antibody deficiencies. METHODS: The ClinGen Antibody Deficiencies Gene Curation Expert Panel, using the ClinGen framework, classified genes related to primary antibody deficiency that primarily affect B-cell development and/or function, and that account for the largest proportion of inborn errors of immunity or primary immunodeficiencies. RESULTS: The expert panel curated a total of 65 genes associated with humoral immune defects to validate 74 gene-disease relationships. Of these, 40 were classified as definitive, 1 as strong, 16 as moderate, 15 as limited, and 2 as disputed. The curation process involved reviewing 490 patient records and 3546 associated human phenotype ontology entries. The 3 most frequently observed terms related to primary antibody deficiency were decreased circulating antibody level, pneumonia, and lymphadenopathy. CONCLUSIONS: These curations (publicly available at ClinicalGenome.org) represent the first effort to provide a comprehensive genetic and phenotypic revision of genetic disorders affecting humoral immunity, as reviewed and approved by experts in the field.

• MeSH
• databáze genetické MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• primární imunodeficience * genetika   MeSH
• syndromy imunologické nedostatečnosti * genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Ruavermis mikebargeri gen. et sp. n. infects the yellow-headed temple turtles Heosemys annandalii (Boulenger et Robinson) in the Mekong River Basin. It resembles Platt Roberts et Bullard, 2018 and Coeuritrema Mehra, 1933 by having the anterior to posterior anatomical sequence of a ventral sucker, external seminal vesicle, cirrus sac, anterior testis, ovary, transverse vitelline duct, and posterior testis. These genera are further similar by having the combination of an elongate/ovoid aspinous body, a ventral sucker at the level of the body constriction, an oesophagus that terminates in the anterior 1/5 of the body and that is ventral to the anterior nerve commissure, intestinal caeca that bifurcate in the anterior 1/3 of the body (not immediately anterior to the ventral sucker), a sinistral caecum that bends toward the midline at level of the cirrus and common genital pore, an external seminal vesicle that abuts the anterodextral margin of the cirrus sac, an oviduct that emerges from the dextral margin of the ovary, and an oviducal seminal receptacle that comprises the middle portion of the oviduct. These genera lack lateral oesophageal diverticulae and a median oesophageal diverticulum. The new genus is unique by having a papillate ventral body surface, an external seminal vesicle lateral to the cirrus sac, vasa efferentia that are ventral to the gonads, an oviduct that is convoluted, a Laurer's canal pore that is preovarian, a Laurer's canal that extends anterolaterad, and an excretory vesicle that is Y-shaped. The 28S rDNA phylogenetic analysis recovered the new species sister to Coeuritrema platti Roberts et Bullard, 2016, with that clade sister to Hapalorhynchus spp. and Platt spp. The new turtle blood fluke is the fourth from Vietnam, second from a Vietnam geomydid, and first from Heosemys Stejneger as well as the first endohelminth from the yellow-headed temple turtle.

• MeSH
• fylogeneze MeSH
• infekce červy třídy Trematoda veterinární   MeSH
• Trematoda anatomie a histologie   klasifikace   fyziologie   MeSH
• želvy * MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Vietnam MeSH

Carbonaceous aerosols (CA), composed of black carbon (BC) and organic matter (OM), significantly impact the climate. Light absorption properties of CA, particularly of BC and brown carbon (BrC), are crucial due to their contribution to global and regional warming. We present the absorption properties of BC (bAbs,BC) and BrC (bAbs,BrC) inferred using Aethalometer data from 44 European sites covering different environments (traffic (TR), urban (UB), suburban (SUB), regional background (RB) and mountain (M)). Absorption coefficients showed a clear relationship with station setting decreasing as follows: TR > UB > SUB > RB > M, with exceptions. The contribution of bAbs,BrC to total absorption (bAbs), i.e. %AbsBrC, was lower at traffic sites (11-20 %), exceeding 30 % at some SUB and RB sites. Low AAE values were observed at TR sites, due to the dominance of internal combustion emissions, and at some remote RB/M sites, likely due to the lack of proximity to BrC sources, insufficient secondary processes generating BrC or the effect of photobleaching during transport. Higher bAbs and AAE were observed in Central/Eastern Europe compared to Western/Northern Europe, due to higher coal and biomass burning emissions in the east. Seasonal analysis showed increased bAbs, bAbs,BC, bAbs,BrC in winter, with stronger %AbsBrC, leading to higher AAE. Diel cycles of bAbs,BC peaked during morning and evening rush hours, whereas bAbs,BrC, %AbsBrC, AAE, and AAEBrC peaked at night when emissions from household activities accumulated. Decade-long trends analyses demonstrated a decrease in bAbs, due to reduction of BC emissions, while bAbs,BrC and AAE increased, suggesting a shift in CA composition, with a relative increase in BrC over BC. This study provides a unique dataset to assess the BrC effects on climate and confirms that BrC can contribute significantly to UV-VIS radiation presenting highly variable absorption properties in Europe.

• MeSH
• aerosoly * analýza   MeSH
• látky znečišťující vzduch analýza   MeSH
• monitorování životního prostředí MeSH
• pevné částice analýza   MeSH
• světlo MeSH
• uhlík * analýza   MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

Coeuritrema Mehra, 1933, previously regarded as a junior subjective synonym of Hapalorhynchus Stunkard, 1922, herein is revised to include Coeuritrema lyssimus Mehra, 1933 (type species), Coeuritrema rugatus (Brooks et Sullivan, 1981) comb. n., and Coeuritrema platti Roberts et Bullard sp. n. These genera are morphologically similar by having a ventral sucker, non-fused caeca, two testes, a pre-testicular cirrus sac, an intertesticular ovary, and a common genital pore that opens dorsally and in the sinistral half of the body. Phylogenetic analysis of the D1-D3 domains of the nuclear large subunit ribosomal DNA (28S) suggested that Coeuritrema and Hapalorhynchus share a recent common ancestor. Coeuritrema is morphologically most easily differentiated from Hapalorhynchus by having ventrolateral tegumental papillae and a definitive metraterm that is approximately 3-7× longer than the uterus. Coeuritrema comprises species that reportedly infect Asiatic softshell turtles (Testudines: Trionychidae) only, whereas Hapalorhynchus (as currently defined) comprises blood flukes that reportedly infect those hosts plus North American musk turtles (Sternotherus Bell in Gray) and mud turtles (Kinosternon Spix), both Kinosternidae, North American snapping turtles (Chelydridae), Asiatic hard-shelled turtles (Geoemydidae) and African pleurodirans (Pelomedusidae). Coeuritrema platti sp. n. infects the blood of Chinese softshell turtles, Pelodiscus sinensis (Wiegmann), cultured in the Da Rang River Basin (Phu Yen Province, Vietnam). It differs from C. lyssimus by having a narrow hindbody (< 1.6× forebody width), ventrolateral tegumental papillae restricted to the hindbody, a short cirrus sac (< 10% of corresponding body length), a transverse ovary buttressing the caeca, a short, wholly pre-ovarian metraterm (~ 10% of corresponding body length), and a submarginal genital pore. It differs from C. rugatus by having small ventrolateral tegumental papillae, testes without deep lobes, and a Laurer's canal pore that opens posterior to the vitelline reservoir and dorsal to the oviducal seminal receptacle. The new species is only the second turtle blood fluke reported from Vietnam.

• MeSH
• druhová specificita MeSH
• fylogeneze * MeSH
• infekce červy třídy Trematoda parazitologie   MeSH
• RNA ribozomální 28S genetika   MeSH
• Trematoda klasifikace   genetika   MeSH
• želvy parazitologie   MeSH
• zvířata MeSH
• Check Tag
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Vietnam MeSH

• MeSH
• alergie diagnóza   prevence a kontrola   terapie   MeSH
• imunita MeSH
• Publikační typ
• učebnice MeSH

• Konspekt
• Patologie. Klinická medicína
• Učební osnovy. Vyučovací předměty. Učebnice
• NLK Obory
• alergologie a imunologie
• NLK Publikační typ
• kolektivní monografie

• MeSH
• alergie * MeSH
• alergologie a imunologie MeSH
• imunita MeSH
• Publikační typ
• monografie MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• alergologie a imunologie

• MeSH
• vnitřní lékařství MeSH
• Publikační typ
• učebnice MeSH

• Konspekt
• Lékařské vědy. Lékařství
• NLK Obory
• vnitřní lékařství
• NLK Publikační typ
• kolektivní monografie