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Biomedical subjects

J Gaudelus

Publications and source records attributed to J Gaudelus.

At least 73 records · Page 4Linked to original sources

[Acute heart insufficiency in an 8-month-old infant presenting with hypocalcemia and Epstein-Barr virus infection: acute myocarditis? Or primary hypokinetic dilated cardiomyopathy?].

An eight-month-old was admitted for acute congestive heart failure with fever. The respective parts played by hypocalcemia (due to vitamin-D deficiency rickets) and acute Epstein-Barr virus infection are discussed. Hypocalcemia was sufficiently marked to induce heart failure per se but replenishment of calcium stores was followed by only partial improvement in cardiac manifestations. Initial management was difficult because of the risks associated with concomitant administration of calcium and digitalis. After eighteen months during which the patient's status remained stable, evaluation showed that clinical features were consistent with sequelae of acute viral myocarditis. The possibility of primary hypokinetic dilated cardiomyopathy was then considered. Esterified carnitine levels were found to be increased leading to further investigations which outruled mitochondrial cytopathy.

Acute Disease↗

[Primary hyperparathyroidism in children].

Primary hyperparathyroidism in children is an extremely rare condition. Slightly more than a hundred cases have been published in children or adolescents aged under 16. Forms with a neonatal presentation, the most rare, should be viewed apart since they rapidly become life-threatening. They involve hyperplasia of the chief cells of the parathyroid glands. Treatment is always surgical and should be rapid, consisting of total parathyroidectomy with autotransplantation. Primary hyperparathyroidism in older children more closely resembles that seen in adults. Sporadic forms are most often due to an adenoma and familial forms, which may occur alone or within the context of a polyendocrine syndrome, are most often due to hyperplasia. Treatment consists of parathyroidectomy, the extent of which depends upon the familial context, visual investigative findings and results of frozen section histology at the time of exploratory cervicotomy. Regardless of the age of the child, family investigation is always required to detect primary hyperparathyroidism occurring in the context of a hereditary disorder.

Adolescent↗

[Mitral valve prolapse and Willebrand disease. Study of 16 cases of Willebrand disease].

We studied mitral valve morphology and kinetics in 16 children aged 3 to 15 years with documented von Willebrand disease. Mitral valve prolapse was demonstrated in four cases (25%); this result is consistent with findings of similar studies in adults. This non-random association between mitral valve prolapse and von Willebrand disease, as well as embryologic evidence and reports of other conditions found in patients with von Willebrand disease, suggest that mesenchymal dysplasia is the underlying anomaly. Patients with von Willebrand disease and mitral valve prolapse may be at increased risk for cerebrovascular events.

Adolescent↗

[Alder's anomaly in mucopolysaccharidosis type VI. Cytological, cytochemical and ultrastructural study].

A cytological study of the blood and bone marrow of a child with mucopolysaccharidosis with Alder's anomaly was analysed at the optical and ultrastructural level. Morphological abnormalities of the blood and bone marrow leucocytes are defined; cytochemical and cytoenzymological abnormalities are indicated, allowing a differential diagnosis with "toxic granulations". The ultrastructural patterns of the storage cells are described compared to descriptions in the literature and the question of their mastocytic or macrophagic filiation is discussed.

Bone Marrow↗

[Rothmund-Thompson syndrome with glaucoma. Endocrine study].

Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.

Abnormalities, Multiple↗

[Purulent pericarditis with a subacute constrictive course. Apropos of a case. Review of the literature].

A case of purulent pericarditis due to Hemophilus influenzae is reported. In spite of management by antibiotics and pericardial drainage, the disease ran a subacute course towards pericardial constriction. Fifty-two previously reported cases are reviewed. The most important clinical and paraclinical features are analyzed. Emphasis is put on the factors which promote subacute pericardial constriction.

Anti-Bacterial Agents↗