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Biomedical subjects

J Ramet

Publications and source records attributed to J Ramet.

45 records · Page 3Linked to original sources
PubMed1986

Neonatal diagnosis of the immotile cilia syndrome.

The immotile cilia syndrome is an inherited disorder characterized by inappropriate motility of the cilia. The clinical symptoms include recurrent sinopulmonary infections and reduced fertility. In about half of the cases, situs inversus is encountered. The case presented is of a two-day-old boy in whom diagnosis was based on ultrastructural abnormalities. Early diagnosis permitted immediate symptomatic treatment and an absence of infections during a 37-month period of observation. Nasal biopsies performed in six newborns with various degrees of respiratory distress secondary to classic neonatal respiratory problems and in a healthy one-day-old newborn demonstrated the presence of normal ciliary structures at birth. In cases without situs inversus, diagnosis of the immotile cilia syndrome may be difficult. The importance of early diagnosis and management is stressed; the ultrastructural abnormalities are present at birth in newborns with the immotile cilia syndrome.

Biopsy↗
PubMed1986

Generalized unresponsiveness to mineralocorticoid hormones: familial recessive pseudohypoaldosteronism due to aldosterone-receptor deficiency.

The present report describes two sibs--born from consanguineous parents--presenting with severe salt wasting. Generalized pseudohypoaldosteronism (PHA) was diagnosed on the basis of markedly elevated sodium concentration in urine (84 & 63 mmol/L respectively), sweat (181 & 196), saliva (- & 120) and stool (- & 189), hyponatremia (112 & 132) and hyperkalemia (10.7 & 7.3) in the presence of increased plasma aldosterone (greater than 8.5 & 5.4 ng/ml), plasma renin activity (40 & 18.9 ng/ml/hr) and urinary aldosterone (greater than 32 & 11.6 micrograms/day). Both parents investigated under basal conditions (sodium ad libitum) and under sodium restricted diet appeared to be normal. Aldosterone binding studies performed on mononuclear leukocytes showed no type I receptors in the investigated child whereas low amounts were found in both parents (90 sites/cell and 63 sites/cell in the mother and the father, respectively). Isolated renal unresponsiveness to mineralocorticoid hormones is thought to be an autosomal dominant inherited disease. In contrast, the results obtained in these two new cases of generalized PHA, as well as the fact that four of five yet reported cases were born from consanguineous parents, suggest an autosomal recessive mode of inheritance for generalized PHA.

Aldosterone↗
PubMed1984

[Transmission electron microscopy study of the nasal cilia].

The authors draw the attention on the existence of dyskinetic and immotile cilia in patients with chronic respiratory infections of unknown origin. The study of the ultrastructure of the ciliae is done by a transmission electron microscope. It is very important to make a difference between primary and acquired anomalies. Furthermore, the authors emphasize the importance of early diagnosis in view of a treatment.

Adult↗
PubMedDate not supplied

Bathing-induced seizures.

Two unusual patients with sensory-induced seizures are presented. The clinical approach and evolution of seizures induced by bathing in patients with and without accompanying epilepsy are discussed.

Electroencephalography↗
PubMedDate not supplied

Circadian rhythm of cardiac responses to vagal stimulation tests.

To evaluate the existence of a circadian rhythm in cardiac responses to vagal stimulation tests, 10 children without neurologic or cardiopulmonary disease, were studied using a standardized procedure. A trigeminal airstream stimulation test (TAS) and an ocular compression test (OCT) were subsequently performed at 4 nonequidistant hours. These 2 vagal stimulation tests were performed according to well-established, previously published techniques. Prolongation of the RR-interval during TAS and OCT was calculated and compared to the mean control RR-interval preceding the stimulation period. Prolongation of the RR-interval during the stimulation period was obtained in all instances during TAS and OCT. Chronobiologic analysis was determined by the cosinor method and bootstrap analysis. A significant circadian rhythm was found in cardiac responses to vagal stimulation for both TAS and OCT. The maximal response hour for TAS was between 9:06 p.m. and 5:18 a.m. and for OCT between 10:18 p.m. and 4:24 a.m. The mean value and 95% intervals for the cardiac responses to both vagal stimulation tests revealed, when using the bootstrap analysis, an important overlap in the hour of appearance of the maximal responses to these procedures; the bootstrap analysis of the peak of the acrophase was at 2:50 a.m. for TAS and 1:15 a.m. for OCT. Our results indicate that there is a circadian rhythm in cardiac responses to vagal stimulation tests and demonstrate a preponderance of these responses during the early morning hours.

Arousal↗
PubMedDate not supplied

Retropharyngeal synovial sarcoma in an infant: report of a case and of its response to chemotherapy; review of the literature.

Synovial sarcoma of the retropharynx is an extremely rare neoplasm. To date, only 10 cases have been reported in patients less than 15 years old. Our 15-month-old patient is, to our knowledge, the youngest ever reported with a retropharyngeal synovial sarcoma in the world literature. In the past, treatment usually consisted of surgery followed by radiotherapy or adjuvant chemotherapy, or both. In the case reported here, combination chemotherapy (ifosfamide, vincristine, and actinomycin D), used as the initial treatment modality, induced a dramatic decrease of the synovial sarcoma.

Antineoplastic Combined Chemotherapy Protocols↗