Publications by authors named "J M Geraud"

Article Synopsis
  • Congenital nemaline myopathies are rare muscle disorders marked by weakness and rod-like inclusions in muscle fibers, often leading to serious complications.
  • The study utilized next-generation sequencing to identify pathogenic variants in the troponin T gene in three patients, all of whom exhibited similar severe symptoms like muscle hypotonia and progressive respiratory failure.
  • Genetic analysis revealed various mutations resulting in the complete absence of the troponin T protein, supporting the idea that these recessive mutations lead to a consistent clinical phenotype among affected individuals.
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Transcranial Doppler (TCD) determined cerebral blood flow velocity and laser Doppler flowmetry (LDF) measured cortical perfusion were simultaneously assessed during hypotensive haemorrhage in 15 anaesthetized rabbits. Systolic (Fsys), diastolic (Fdia) and mean (Fmean) blood flow velocities were recorded into the intracranial internal carotid (ICA) and basilar artery (BA). Resistance (RI = Fsys-Fdia/Fsys) and pulsatility (PI = Fsys-Fdia/Fmean) indices were calculated.

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Thirty-four children, ten of them coming from another Surgical Center, underwent repair for urethral fistula after hypospadias reconstructive surgery, over a period of three years (1985-1987). After the first operation, there was no recurrence in 59% (20 cases). Currently, all fistulas have been closed, except in 3 cases.

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