Publications by authors named "C N Muller Berat"
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Mol Genet Metab
October 2024
Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.
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- - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
- - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
- - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.
We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was performed at the age of three weeks. Later, histological analysis of her pancreas in a research setting revealed a focal form of CHI.
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- Water-soluble vitamins are crucial for the nervous system, and their deficiencies can lead to serious, irreversible complications if left untreated; this study aimed to highlight the clinical and laboratory findings related to these deficiencies for better early diagnosis and treatment.* -
- Between 1998 and 2023, data from patients with neurological symptoms attributed to vitamin deficiencies were analyzed, revealing specific clinical presentations and neuroimaging results for various vitamin deficiencies, such as B1, B2, B12, and C.* -
- The study concluded that acquired vitamin deficiencies can produce symptoms that resemble inherited metabolic disorders and emphasized the need for prompt diagnosis and treatment to prevent long-term consequences.*
We show, for the first time, radio measurements of the depth of shower maximum (X_{max}) of air showers induced by cosmic rays that are compared to measurements of the established fluorescence method at the same location. Using measurements at the Pierre Auger Observatory we show full compatibility between our radio and the previously published fluorescence dataset, and between a subset of air showers observed simultaneously with both radio and fluorescence techniques, a measurement setup unique to the Pierre Auger Observatory. Furthermore, we show radio X_{max} resolution as a function of energy and demonstrate the ability to make competitive high-resolution X_{max} measurements with even a sparse radio array.
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