Cystic fibrosis with and without meconium ileus.
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Biomedical subjects
Publications and source records attributed to R Gilly.
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One hundred and fifty-four patients from 70 to 85 years old (mean 74.5 +/- 4.5 years), including 105 men and 49 women, underwent a bicycle exercise test, in the upright position, with 3 minutes triangular levels (levels of 20 watts or more often 30 watts). Blood pressure (BP) was measured at rest and at the end of each level, using the auscultatory method and a mercury manometer. These 154 patients were divided in 59 "healthy" old people, 21 patients suffering from coronary insufficiency but with normal BP, 12 hypertensive patients and 62 patients receiving antihypertensive therapy. The results showed, as in younger people, a linear relation between BP and heart rate (HR). The slope of BP reported to HR determined the exercise BP of each subject. The mean value of "healthy" old people defined the normal exercise BP of people over 70 years old. Slope of systolic blood pressure (SBP) was higher in men than in women, but declined in both sexes in people over 80 years old. Slope of SBP was lower in the case of coronary insufficiency. In hypertensive patients, slope of SBP was the same as in normotensive patients, but was shifted upward. Finally mean exercise BP was lower in patients receiving antihypertensive therapy, compared to non-treaded patients with equal rest BP. The knowledge of exercise BP is useful for the right interpretation of exercise testing in old people suffering from coronary insufficiency or hypertension, as well as in presumed healthy old people.
The immunohistochemical distribution of TH and PNMT containing neuronal elements was investigated utilizing peroxidase anti-peroxidase methods in newborn control and sudden infant death syndrome (SIDS) brainstems. The TH immunoreactive neurons, within the medulla oblongata, displayed a similar distribution in both control and SIDS tissue. However, PNMT immunoreactive neurons seen in the dorsal part of the nucleus of tractus solitarius in control tissue were not observed in SIDS tissue. This alteration of adrenergic neurons in the dorsal part of NTS (region reported to be implicated in the control of blood pressure and respiration) could explain the cardiorespiratory disorders in SIDS.
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To this day, there is no explanation as to why chronic airway obstruction develops in cystic fibrosis (CF). Even if the mucous secretions are considered abnormal, these abnormalities resemble those observed in patients without CF. There is no primary alteration of the ciliated cells and the presence of a CF ciliary inhibitory factor has not yet been established. However, the electrolyte (chloride and sodium) transport abnormalities in airway epithelia can induce a dehydration of bronchial secretions and a slowdown of mucociliary transport in peripheral airways. But this does not explain the specific lung infection and the role of Pseudomonas aeruginosa. No specific biochemical or structural abnormality of the CF-specific bronchial secretions and/or cell membranes has yet been identified. The question therefore remains open: are we dealing with a deficient respiratory tract immunity? The CF coding gene has been localized: could the discovery of a "basic defect", a direct expression of the abnormal gene, explain the electrolyte transport abnormalities, the specific lung infection and other CF manifestations?
Mucoviscidosis (cystic fibrosis of the pancreas) is the most frequent lethal genetic disorder in the white race. It is an autosomal recessive transmission. In spite of its recent localisation on the 7th chromosome, the fundamental mechanism responsible for the symptoms remains unknown and it is still a syndrome more than a disease. It presents as a generalised seromucous exocrinopathy. The serous glands are functionally abnormal and have secretions too rich in chloride which allows for the sweat test (the only test of diagnostic value). The accumulation of abnormal mucous secretions is responsible for the clinical manifestations: intestinal troubles, bronchial and pulmonary disease, progressive pancreatic insufficiency and biliary cirrhosis. Mucoviscidosis is not longer a disease exclusively of children. The treatment which is solely symptomatic has profoundly changed the prognosis. Half of the children afflicted become adults. This fact and the better condition of diagnosis explain the appearance of a new symptomatology sometimes with a late presentation. On the basis of the genetic and prognostic implications one should consider the diagnosis at any age even if the general state is well conserved. The diagnosis rests on the association of suggestive symptoms and a disturbed sweat test. In the adult the presenting signs are always respiratory, more rarely digestive, and sometimes sterility. These associations are very suggestive. The current evolution requires a specific clinical management of new adult cases who, even if not in a very good clinical state, maintains a vital hope for several years with symptomatic treatment (and the hope perhaps that the discovery of the fundamental defect will lead to more specific therapy).
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In order to investigate whether central catecholaminergic neurons are altered in sudden infant death syndrome (SIDS), the activities of dopamine-beta-hydroxylase (DBH) and phenylethanolamine-N-methyltransferase (PNMT) were determined in nine brainstem areas from 19 victims of totally unexplained SIDS (tSIDS), 9 victims of partially unexplained SIDS (pSIDS) and 8 control infants. The distinction between tSIDS and pSIDS was made according to the results of the autopsy. They were totally negative for the tSIDS victims, while minor pathological alterations were found in pSIDS victims. In both tSIDS and pSIDS victims, the PNMT activity was significantly decreased in the medullary C2m and C21 areas and in the nucleus medullae oblongatae centralis. In the C21 area only DBH activity was decreased. Further, in the nucleus ambiguus PNMT activity was decreased in tSIDS, while DBH was lowered in pSIDS victims. No significant modifications were found in the areas from the dorso-lateral pons (locus coeruleus, Kolliker Fuse and parabrachialis nuclei). Thus, in the two groups of SIDS victims the capacity to synthesize adrenaline was decreased in some medullary areas. It is considered that these biochemical alterations are related to the abnormal central respiratory and arousal control, which is thought to be present in SIDS.
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This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait. Characteristic stereotypic movements of the hands occurred, and, furthermore, rhythmic truncal balancing and episodic hyperpnea. At 2 yrs, neurological examination showed slight hypertonia and hyperreflexia of the legs without extensor plantar signs, there was relative microcephaly, and visceral examination was normal. The diagnosis was made on the basis of clinical signs: all laboratory investigations were negative except EEG which showed unspecific modifications. We didn't find hyperammonemia. No progression of the symptoms appeared in the 15 mos following the diagnosis.
A single acute IV injection (1 microgram/kg) of the synthetic replicate of Somatocrinin (GRF) in 40 children with growth hormone (GH) deficiency induces a marked plasma GH increase, although heterogeneous. Clinical tolerance is excellent. Compared to Propranolol + Glucagon (P + G), GRF induces a better GH response. It also discriminates better idiopathic GH deficiency (n = 13), where mean GH peak = 6.5 ng/ml (3.3 after P + G) from GH deficiency secondary to a brain tumor (n = 24) where mean GH peak = 15.5 ng/ml (5.0 after P + G) GRF induces a slight Prolactin (Prl) increase, more obvious when basal Prl is elevated. However there is no correlation between GH and Prl responses to GRF even with basal hyperprolactinemia. GH response to GRF seems to slowly decrease after radiation therapy. GRF is a new potent, well tolerated secretagogue of GH and improves the diagnostic quality of the etiology of GH deficiency.
From April, 1980 to December, 1981 ten children aged from 2 to 14 years presenting with cystic fibrosis were admitted to hospital for exacerbation of their chronic bronchial infection. Mucous Pseudomonas aeruginosa was present in sputum. Seven of the 10 strains isolated were susceptible to azlocillin and 3 were classified as intermediate. Eight children were treated with azlocillin alone in doses of 200-300 mg/kg/day and two with combined azlocillin 300 mg/kg/day and amikacin 16 and 23 mg/kg/day respectively. In both groups the antibiotics were administered 8-hourly by short (30 min) intravenous infusions and the duration of treatment ranged from 8 to 21 days (mean 14 days). Both drugs were well tolerated. Antibacterial activity was assessed as "cure" when Pseudomonas could not be isolated in sputum for at least 2 weeks after the end of the treatment, as "relapse" when that organism reappeared in sputum within the same period of time, and as "failure" when it persisted in sputum. On this account, among the 8 children treated with azlocillin alone 3 were cured, one relapsed and 4 failed. One of the two children treated with the azlocillin-amikacin association was cured, the other failed. Clinical results correlated roughly with antibacterial activity. Five distinct improvements were observed: 2 were associated with bacteriological cure, 2 with transient eradication followed by relapse and 1 occurred although the responsible organism persisted in bronchial secretions. Two children showed poor clinical results; 2 with failure and 1 with bacteriological cure. In two other children treatment was ineffective both clinically and bacteriologically. This study confirms that high parenteral doses of azlocillin have a beneficial effect on exacerbations with Ps. aeruginosa of chronic bronchial infection in cystic fibrosis. Clinical improvement usually correlates with antibacterial activity when the organism is eliminated, even temporarily, from bronchial secretions. The synergistic azlocillin-aminoglycoside association should probably be recommended, at least to reduce the risk of emergence of resistant strains.
To determine whether significant historical differences distinguish the near-miss for Sudden Infant Death from the infants who died of SIDS, we analysed the histories and clinical data from two groups of infants seen in our University Hospital and from collaborative research group. The data were obtained with the use of a standardised questionnaire and consultation of all available medical data. Sixty-five infants were identified as near-miss for SIDS after they had suffered a severe cardiorespiratory incident during sleep for which no cause could be found despite a complete medical examination. After an autopsy had failed to reveal a cause for the unexpected death 95 cases of SIDS were retained in the study. A series of 353 variables were collected from the parents, the gynaecologists, neonatologists and attending physicians. After statistical analysis, only 15 of the 353 items studied significantly differentiated between the two groups. A step-wise discriminant analysis performed on these items led to the identification of six independent variables: the time of the incident; the circumstances leading to the observation of the child; the child's sleep position; previous minor intestinal problems; the size of the family and the mother's coffee consumption. Most variables indicate that the near-miss infants were discovered and rescued earlier than the infants who died. No other historical information appeared significantly to differentiate between the two groups of infants. These data need confirmation from a prospective epidemiological survey.
The purpose of this study was to compare three different modes of treatment in the prevention of relapses of febrile convulsions (Phenobarbital = PH, Sodium Valproate = SV, Placebo = PO) in a randomized therapeutic trial. The patients included in the study had shown their first generalized convulsive seizure during a bout of fever (greater than or equal to 38.5 degrees C) and were aged between 6 months and 4 years. They were subsequently followed up as outpatients, and Phenobarbital and sodium valproate levels were measured regularly to ascertain compliance with the treatment and to adjust the dosage accordingly. The patients' families were questioned with respect to the occurrence of feverish bouts and convulsive seizures during the interval between visits, as well as possible adverse reactions. An EEG was carried out yearly. Results were as follows: - 69 patients - 35 boys and 34 girls - with an average age of 24 months were divided into 3 groups according to treatment: 21 cases on PH, 22 cases on SV, and 26 cases on PO. - they were followed up for an average duration of 21 months. - the average number of feverish bouts per child and per year was evaluated at 2.5, no statistically significant difference being noticeable between the various modes of prophylaxis. - 15 relapses of febrile seizures were noted in 14 children, over an average duration of 23 months; on average, relapses occurred after 9 months; among the 14 children who had relapsed, one had been treated with SV, 4 with PH and 9 with PO, leading to estimated relapse rates of 4%, 19%, and 35% respectively. There is a statistically significant difference in the relapse rates between the treated groups (SV and PH) and the Placebo group, and a particularly significant difference between Sodium Valproate and Placebo.(ABSTRACT TRUNCATED AT 250 WORDS)