Publications by authors named "Geraud J"

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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The author establish an onerall picture of cerebellar infarction with brain stem compression after reviewing 63 cases published in the literature and 4 personal observations. The frequency of this affection can be compared with that of cerebellar hematomas. Diagnosis is based on its predominance in males, the early age at which it appears, its rapid and typical onset, and the delayed signs of brain stem compression.

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The author describe 2 personal observations of peripheral neuropathy with cryoglobulinemia and the 28 cases previously recorded are reviewed. The characteristics of the usually sensorimotor neuropathy are not specific. Nevertheless, the association with purpura, Raynaud's syndrome and leg ulcers and the inconstant aggravation of the symptoms with cold allow the diagnosis to be suspected on clinical grounds.

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In a case of benign intracranial hypertension with no apparent aetiology, cerebral scintigraphy demonstrated abnormal uptake in the left transverse sinus 24 hours after injection of the isotope. This sinus was seen to be thrombosed by cerebral angiography. On the basis of this case, the role of cerebral venous thrombosis in cases of "pseudo-tumor cerebri" is discussed.

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