We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.
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Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.
View Article and Find Full Text PDFFront Pediatr
December 2024
Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the gene with pathogenic variants is unable to communicate with E1-beta for the formation of the E1 enzyme, decreasing pyruvate dehydrogenase complex activity. In this study, we report a Vietnamese boy with lethargy, severe metabolic acidosis, increased serum lactate, hyperalaninemia, lactic acidosis, and globus pallidus lesions.
View Article and Find Full Text PDFMicrob Pathog
December 2024
Universidade Federal de São Paulo, Instituto de Ciências Ambientais, Químicas e Farmacêuticas, Diadema, São Paulo, Brasil, CEP 09972-270; Universidade Estadual de Campinas, Instituto de Biologia, Campinas, Brasil, CEP 13083-862.
Myxosporeans are a diverse group of cnidarian endoparasites of aquatic animals, with more than 2,600 described species. The genus Ceratomyxa includes some 270 species that are mostly coelozoic and infect the gall bladders of mainly marine fish. During our survey in Tapajós River in the Brazilian Amazon, two Ceratomyxa species were discovered in the gallbladders of the anostomid fishes Schyzodon fasciatus and Schyzodon vittatus.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Psychology, University of Calgary, Calgary, AB T2N1N4, Canada.
We examined associations of self-reports on the HEXACO Personality Inventory-Revised (HEXACO-PI-R) with birth order category and sibship size, controlling for participant sex and age. In a first sample ( > 700,000 online adults, mainly from English-speaking countries), Honesty-Humility and Agreeableness both showed the highest means for middle-borns, followed in order by last-borns (youngests), firstborns (oldests), and only children, with differences between middles and onlys of ≥ 0.20.
View Article and Find Full Text PDFZool Stud
September 2024
German Centre for Marine Biodiversity Research (DZMB), c/o Biozentrum Grindel, Martin-Luther-King-Platz 3, 20146 Hamburg, Germany. E-mail: (Neuhaus) ; (Brix).
Confined by the Mid-Atlantic Ridge and the European continental shelf, the deep-sea acorn barnacle (Hoek, 1883) lives in the northeast Atlantic deep sea, where it has been frequently reported in high current areas. Cemented to a solid substrate during its entire adult life, the species can only disperse by means of planktotrophic nauplius larvae. This study reports on the occurrence, ecology and genetic connectivity of from four sites within the northeastern Iceland Basin and presents the first record of the species living affiliated with hydrothermal vent field on the Reykjanes Ridge axis.
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