Publications by authors named "I Harzallah"
Objective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2, have been shown to cause distal myopathy.
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- Anorectal malformations (ARMs) are congenital conditions affecting the anus and rectum, often associated with syndromic diseases, meaning they occur alongside other medical issues.
- A case study discusses a 4-year-old girl with an isolated ARM who later was diagnosed with Coffin-Siris syndrome (CSS) linked to an ARID1B gene mutation, highlighting the rarity of this dual diagnosis.
- Literature review revealed 10 other cases with both CSS and ARMs, suggesting a significant association between the two, particularly with ARID1A-related forms of CSS.
Article Synopsis
- - Distal myopathies are rare inherited disorders that cause muscle fiber loss starting in the extremities, linked to variants in a new gene previously associated solely with heart conditions, which encodes a key muscle protein.
- - The study aims to understand the mechanisms behind these disorders by testing various genetic variants in muscle cell models and correlating them with clinical data from affected patients.
- - Findings indicate that certain genetic changes linked to dominant forms of the disease cause toxic protein aggregates, suggesting these variants should be considered harmful, while also highlighting the need for further research into other potential disease mechanisms.
Article Synopsis
- Congenital erythropoietic porphyria (CEP) is a rare genetic disorder resulting from a deficiency in an enzyme crucial for heme biosynthesis, leading to varying severity levels from life-threatening symptoms at birth to milder issues later on.
- A study reviewed 20 severe perinatal cases of CEP in France, analyzing their presentation and progression through data collected from medical records.
- Key findings revealed diverse outcomes: some cases involved severe antenatal symptoms like hydrops fetalis and resulted in early mortality, while others showed acute neonatal distress from severe anemia and required hematopoietic stem cell transplantation, which had mixed success rates, highlighting the urgency for improved prenatal and postnatal care strategies.