Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.PMID:38377647 | DOI:10.1016/j.ejpn.2024.02.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Emilie Everard Hilde Laeremans Fran çois Boemer Sandrine Marie Marie-Fran çoise Vincent Joseph P Dewulf Fran çois-Guillaume Debray Corinne De Laet Marie-C écile Nassogne Source Type: research
Influence of sexual hormones on Chagas disease
CONCLUSIONS: Our results showed that testosterone increased infection severity, whereas estradiol had the opposite effect. This research improves the understanding of sex hormones´infuence upon this infection to contribute with the handling of Chagas´disease.PMID:38377617 | DOI:10.24875/ACM.23000018 (Source: Archivos de Cardiologia de Mexico)
Source: Archivos de Cardiologia de Mexico - February 20, 2024 Category: Cardiology Authors: Oscar A Reboreda-Hernandez Rocio Ortiz-Butron Benjamin Nogueda-Torres Nayeli Gonzalez-Rodriguez Source Type: research
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.PMID:38377647 | DOI:10.1016/j.ejpn.2024.02.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Emilie Everard Hilde Laeremans Fran çois Boemer Sandrine Marie Marie-Fran çoise Vincent Joseph P Dewulf Fran çois-Guillaume Debray Corinne De Laet Marie-C écile Nassogne Source Type: research
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.PMID:38377647 | DOI:10.1016/j.ejpn.2024.02.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Emilie Everard Hilde Laeremans Fran çois Boemer Sandrine Marie Marie-Fran çoise Vincent Joseph P Dewulf Fran çois-Guillaume Debray Corinne De Laet Marie-C écile Nassogne Source Type: research
Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data
Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD h... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani and Gabriel Chodick Tags: Research Source Type: research
Symptomatic polycystic liver disease: a rare indication of hepatectomy
We present the case of forty-four-year-old woman with autosomal dominant Polycystic liver disease (PLD) without kidney disease diagnosed for 18 years ago. She experienced progressive abdominal distension and malnutrition over the previous twelve months. The patient had no other comorbidities. Physical examination revealed an 8 cm hepatomegaly in the right hypochondrium region. Liver function analysis was normal. CT scan showed multiple liver cysts with smooth and regular walls, predominantly in the right lobe which was considered as type III according to Gigot´s classification. Due to the significant hepatomegaly, convent...
Source: Revista Espanola de Enfermedades Digestivas - February 12, 2024 Category: Gastroenterology Authors: Jos é Gabriel Cervantes Lourdes Mollard Rodrigo Gasque Marcelo Lenz Natalia Ruiz Magali Chahdi Beltrame Francisco Juan Mattera Emilio Gast ón Quiñonez Source Type: research
