The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review
CONCLUSIONS: To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.PMID:38204316 | DOI:10.24953/turkjped.2022.1082 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Dejan Aleksic Marina Gazdic Jankovic Stefan Todorovic Marija Kovacevic Milan Borkovic Source Type: research
53-Year-Old Man With Fever and Hepatomegaly
A 53-year-old man with a tobacco and remote alcohol use disorder presented with a 5-month history of recurrent fevers, fatigue, and an 18-kg unintentional weight loss. He had no notable personal or family medical history. His only medication was acetaminophen as needed. He was monogamous with his spouse of 20 years, did not use illicit drugs, and reported no recent travel outside the southeastern United States. There were no notable findings on review of systems or on the physical examination. (Source: Mayo Clinic Proceedings)
Source: Mayo Clinic Proceedings - January 6, 2024 Category: Internal Medicine Authors: Justin Call, William Mai, Razvan Chirila Tags: Residents ’ clinic Source Type: research
Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration
Biochim Biophys Acta Mol Basis Dis. 2023 Dec 22:166993. doi: 10.1016/j.bbadis.2023.166993. Online ahead of print.ABSTRACTCholesterol 24-hydroxylase (CYP46A1) is an exclusively neuronal cytochrome P450 enzyme responsible for converting cholesterol into 24S-hydroxycholesterol, which serves as the primary pathway for eliminating cholesterol in the brain. We and others have shown that increased activity of CYP46A1 leads to reduced levels of cholesterol and has a positive effect on cognition. Therefore, we hypothesized that CYP46A1 could be a potential therapeutic target in Niemann-Pick type C (NPC) disease, a rare and fatal ne...
Source: Biochimica et Biophysica Acta - December 24, 2023 Category: Biochemistry Authors: Maria Jo ão Nunes Andreia Neves Carvalho Joana Reis Daniela Costa Miguel Moutinho Joana Mateus Rita Mendes de Almeida Sara Brito Daniela Risso Sofia Nunes Margarida Castro-Caldas Maria Jo ão Gama Cec ília M P Rodrigues Sara Xapelli Maria Jos é Diógen Source Type: research
Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration
Biochim Biophys Acta Mol Basis Dis. 2023 Dec 22:166993. doi: 10.1016/j.bbadis.2023.166993. Online ahead of print.ABSTRACTCholesterol 24-hydroxylase (CYP46A1) is an exclusively neuronal cytochrome P450 enzyme responsible for converting cholesterol into 24S-hydroxycholesterol, which serves as the primary pathway for eliminating cholesterol in the brain. We and others have shown that increased activity of CYP46A1 leads to reduced levels of cholesterol and has a positive effect on cognition. Therefore, we hypothesized that CYP46A1 could be a potential therapeutic target in Niemann-Pick type C (NPC) disease, a rare and fatal ne...
Source: Biochimica et Biophysica Acta - December 24, 2023 Category: Biochemistry Authors: Maria Jo ão Nunes Andreia Neves Carvalho Joana Reis Daniela Costa Miguel Moutinho Joana Mateus Rita Mendes de Almeida Sara Brito Daniela Risso Sofia Nunes Margarida Castro-Caldas Maria Jo ão Gama Cec ília M P Rodrigues Sara Xapelli Maria Jos é Diógen Source Type: research
Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration
Biochim Biophys Acta Mol Basis Dis. 2023 Dec 22:166993. doi: 10.1016/j.bbadis.2023.166993. Online ahead of print.ABSTRACTCholesterol 24-hydroxylase (CYP46A1) is an exclusively neuronal cytochrome P450 enzyme responsible for converting cholesterol into 24S-hydroxycholesterol, which serves as the primary pathway for eliminating cholesterol in the brain. We and others have shown that increased activity of CYP46A1 leads to reduced levels of cholesterol and has a positive effect on cognition. Therefore, we hypothesized that CYP46A1 could be a potential therapeutic target in Niemann-Pick type C (NPC) disease, a rare and fatal ne...
Source: Biochimica et Biophysica Acta - December 24, 2023 Category: Biochemistry Authors: Maria Jo ão Nunes Andreia Neves Carvalho Joana Reis Daniela Costa Miguel Moutinho Joana Mateus Rita Mendes de Almeida Sara Brito Daniela Risso Sofia Nunes Margarida Castro-Caldas Maria Jo ão Gama Cec ília M P Rodrigues Sara Xapelli Maria Jos é Diógen Source Type: research
A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa
ConclusionWe describe a previously unreported case of a GSDs IXa type Chinese boy caused by a novel PHKA2 variant. This clinical case contributes to the understanding of the characteristics of GSDs type IXa and expands the variants spectrum of genes related to GSDs type IXa. Our findings demonstrated the significance of genetic testing in the diagnosis of GSDs. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 20, 2023 Category: Endocrinology Source Type: research
Comparison of clinical and laboratory characteristics between severe and non-severe dengue in paediatrics
ConclusionIn paediatric patients, severe dengue is associated with specific clinical indicators, including lethargy, low systolic blood pressure, prolonged capillary refill time (CRT), and the presence of ascites and hepatomegaly. Identifying these clinical features early is crucial for primary care physicians, as it enables accurate diagnosis and timely intervention to manage severe dengue effectively. (Source: PLoS Neglected Tropical Diseases)
Source: PLoS Neglected Tropical Diseases - December 19, 2023 Category: Tropical Medicine Authors: Nurul Liyana Idrus Source Type: research
Lung ultrasound –guided fluid resuscitation in neonatal septic shock: A randomized controlled trial
Conclusion: Lung ultrasound is a noninvasive and convenient tool for predicting fluid overload in neonatal septic shock. Fluid resuscitation guided by lung ultrasound can shorten the length of hospital and NICU stays, reduce the amount of fluid used in the first 6 h, and reduce the risk of acute kidney injury and intracranial hemorrhage.Trial registration: Registered in Guangdong Second Provincial General Hospital: 2021-IIT-156-EK, date of registration: November 13, 2021. And ClinicalTrials.gov: NCT06144463 (retrospectively registered).What is Known:• Excessive fluid resuscitation in neonates with septic shock had wors...
Source: European Journal of Pediatrics - December 14, 2023 Category: Pediatrics Source Type: research
Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease
Autosomal dominant polycystic liver disease (ADPLD) is a rare condition with a female preponderance, mainly based on pathogenic variants in two genes, PRKCSH and SEC63. Clinically, ADPLD is characterized by vast heterogeneity, ranging from asymptomatic to highly symptomatic hepatomegaly. To date, little is known about the prediction of disease progression at early stages, hindering clinical management, genetic counseling, and the design of randomized controlled trials. To improve disease prognostication, we built a consortium of European and American centers to recruit the largest cohort of patients with PRKCSH and SEC63 l...
Source: Gastroenterology - December 12, 2023 Category: Gastroenterology Authors: Ria Sch önauer, Dana Sierks, Melissa Boerrigter, Tabinda Jawaid, Lea Caroff, Marie-Pierre Audrezet, Anja Friedrich, Melissa Shaw, Jan Degenhardt, Mirjam Forberger, Jonathan de Fallois, Henrik Bläker, Carsten Bergmann, Juliana Gödiker, Philipp Schindler Tags: Clinical - Liver Source Type: research
Evaluation of liver and spleen stiffness measurement with shear wave elastography in brucellosis
ConclusionsThe study results showed that liver and spleen stiffness were high in acute brucellosis patients and had predictive significance above certain cut-off values. It can be considered that pSWE, which evaluates liver and spleen stiffness in acute brucellosis, may provide diagnostic benefit as a reliable, non-invasive technique. (Source: Irish Journal of Medical Science)
Source: Irish Journal of Medical Science - December 6, 2023 Category: General Medicine Source Type: research
Dexamethasone-induced hepatomegaly
Med Clin (Barc). 2023 Dec 2:S0025-7753(23)00675-9. doi: 10.1016/j.medcli.2023.11.004. Online ahead of print.NO ABSTRACTPMID:38044184 | DOI:10.1016/j.medcli.2023.11.004 (Source: Medicina Clinica)
Source: Medicina Clinica - December 3, 2023 Category: General Medicine Authors: Álvaro Villarejo Pérez Emilio Garc ía García Source Type: research
