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COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity.

BACKGROUND: Old age, obesity, and certain chronic conditions are among the risk factors for severe COVID-19. More information is needed on whether inherited metabolic disorders (IMD) confer risk of more severe COVID-19. We aimed to establish COVID-19 severity and associated risk factors in patients with IMD currently followed at a single metabolic center. METHODS: Among all IMD patients followed at a single metabolic referral center who had at least one clinic visit since 2018, those with accessible medical records were reviewed for SARS-CoV-2 tests. COVID-19 severity was classified according

[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 child … mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m. …

Temporal development of genetic and metabolic effects of biotin deprivation. A search for the optimum time to study a vitamin deficiency.

Biotin deficiency (Bt-D) is usually studied at the point at which the animal model exhibits the signs of full-blown deficiency symptoms; in rats, this typically occurs at 6-8 weeks of feeding a deficient diet. To differentiate specific deficiency effects from those of undernutrition, biotin sufficient and deficient rats were studied at 2, 3, 4, and 5 weeks on the deficiency diet, before the onset of weight loss and deficiency signs. The deficiency state was confirmed by biochemical and molecular analyses. Blood and liver metabolites were determined and western blots of signaling proteins, and

Newborn screening programs promote vaccine acceptance among parents in Turkey: a cross-sectional study.

OBJECTIVES: Newborn screening and childhood immunization are among the most successful public health initiatives. Turkey has a high vaccinat … s. RESULTS: This analytic descriptive study included 481 parents (125 with children diagnosed with biotinidase deficiency or PKU via newborn screening, and 356 with healthy children aged 2-6). The mean age of respondents was 35 years, and the majority were mothers with a college education. The main sources of vaccine information were health professionals, followed by s …

Нейромиелит Оптика Спектрум С односторонним ретробулбаром Неритом: доклад по делу.

Нейромиелитное расстройство спектра (NMOSD) включает в себя аутоиммунное генезис, проявляющееся в атаках оптического неврата (ON) и поперечного миелита (TM), а также экспрессивное аквапорина 4 (NMO-IgG) или миелин олиго-эндокитного гликотеина (MOGAb). В редких случаях болезнь может также иметь клиническое представление только с ТМ без ТМ и без ТМ. Эти условия также включены в спектр. Мы представляем случай 50-летнего пациента с жалобами на размытое зрение в левом глазу, боль в шее и онемение рук за несколько месяцев до госпитализации.После консультации с офтальмологом была произведена магнитна

Hemophagocytic Lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is an aggressive life-threatening disease that consists of uncontrolled activated lymphocytes and macrophages that secrete excessive cytokines. Symptoms and laboratory findings of HLH include prolonged fever, cytopenia, hepatosplenomegaly, liver dysfunction, hypertriglyceridemia, hyperferritinemia, increased soluble interleukin-2 receptor, low fibrinogen, and neurological problems. HLH has two forms: primary (familial autosomal recessive) or secondary (related to infections, malignancy, autoimmune and metabolic disorders, transplantations, chimeric anti

Совпадение в полном тексте источника
… Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. Pediatr Blood Cancer. 2012;59:191–193. doi: 10.1002/pbc.23247. 42. Gokce M, Unal O, Hismi B, et al. Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. …

Fucoidan Structure and Activity in Relation to Anti-Cancer Mechanisms.

Fucoidan is a natural derived compound found in different species of brown algae and in some animals, that has gained attention for its anticancer properties. However, the exact mechanism of action is currently unknown. Therefore, this review will address fucoidans structure, the bioavailability, and all known different pathways affected by fucoidan, in order to formulate fucoidans structure and activity in relation to its anti-cancer mechanisms. The general bioactivity of fucoidan is difficult to establish due to factors like species-related structural diversity, growth conditions, and the ex

How histone modifications influence cellular radiosensitivity: Pharmaceutically targeting epigenetic regulators as a promising avenue to overcome radioresistance.

Cancer remains the leading cause of mortality worldwide. Radiotherapy (RT), a cornerstone of oncological treatment for over a century, has achieved great success in various cancers. However, radioresistance remains the primary factor leading to the failure of radiotherapy. Histone modifications in cancer cells are known to play a pivotal role in regulating radiosensitivity by modulating chromatin structure, either by loosening or tightening it. Here, we provide a comprehensive summary of the link between aberrant histone modifications and radiation resistance across various cancer and normal t

Abstracts - IANCON 2025

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Ход работы сессии 28th Европейский конгресс педиатрической ремуматологии (ПСР) 2022) Прага, Чешская Республика. 20-23 сентябрь 2022.

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