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Biomedical subjects

J C Mselati

Publications and source records attributed to J C Mselati.

At least 19 recordsLinked to original sources
PubMed2003

[Unusual good prognosis for X-linked myotubular myopathy].

Recessive X-linked myotubular myopathy has recently been shown to be linked to the mutation of a gene located in the Xq28 region. Evolution is used to be considered as fatal but mild forms or forms with a better prognosis have been recorded since. We report a case in a patient, whose parents were warned of fatal outcome once the diagnosis was made during the neonatal period. The reaction of the parents was to avoid any relationship with medical care. Ten years later the patient was seen in relatively good health thus proving that the evolution was more favourable than anticipated.

Child↗
PubMed1994

[Biopercular polymicrogyria associated with congenital ophthalmoplegia caused by nuclear lesion of the common oculomotor nerve].

Developmental pseudobulbar palsies seem to be different from the adult form described by Foix, Chavany and Marie. They usually include a major speech delay and severe epileptic seizures. In one clinicopathological case, neuroradiological imaging showed a macrogyric aspect of both rolandic operculi and unilateral destruction of pes pedunculari. Microscopic examination showed a four-layered polymicrogyria involving the first temporal gyrus and in the brainstem a selective destruction of the left oculomotor nucleus. Thus, the macrogyric aspect could be related to post migratory disorder occurring late in the cortical development. The brain stem lesion, destroying unilaterally the third cranial nerve nucleus gives a good example of the complex somatotopia of this oculomotor nucleus.

Abnormalities, Multiple↗
PubMed1994

[Long term course of catecholaminergic polymorphic ventricular tachycardia in children. Apropos of 20 cases with an 8 year-follow-up].

BACKGROUND: Primary ventricular arrhythmias are rarely seen in children. Some of them have a poor prognosis; they should be diagnosed because adequate treatment can prevent sudden death. POPULATION AND METHODS: Twenty children (11 male, nine female), aged 3 to 16 years (mean: 7.7 +/- 4), with apparently normal hearts and normal QTc intervals were referred for stress or emotion-induced syncope. Primary ventricular arrhythmia, consisting of isolated polymorphic ventricular extrasystoles followed by salvos eventually degenerating into ventricular fibrillation, was reproducibly induced by physical exertion. The syncopal events and "torsades de pointe" disappeared with beta-blocking therapy. A total of four syncopal events and two sudden deaths occurred during a mean follow-up of 8 years, probably due to discontinuation of treatment. DISCUSSION: Fifty-four-cases of stress-induced severe polymorphous ventricular arrhythmia have been reported in the literature. There were four sudden deaths in 37 patients on beta-blocking therapy, and ten sudden deaths in 21 untreated patients. CONCLUSION: Clinically close to the congenital long QT syndrome, this primary ventricular arrhythmia must be looked for in cases of stress or emotion-induced syncope. The diagnosis relies on Holter monitoring and a stress test. Life-long beta blocker therapy is required.

Adolescent↗
PubMed1993

[Herpes encephalitis in newborn infants. Retrospective study of 12 cases].

BACKGROUND: Herpes simplex virus (HSV) may cause severe disease in neonates with high mortality and devastating sequelae. Adenine arabinoside (ara-A) and acyclovir can be effective in treating the neonatal disseminated disease, but optimal doses of the drugs are still debated. PATIENTS: The files of 12 neonates treated for HSV infection between May 1983 and April 1989 in 9 departments of pediatrics were studied. The following data were analysed: age at initial signs, clinical manifestations, CSF abnormalities, viral and immunological studies, imaging techniques used to detect brain damage, doses and duration of treatment. RESULTS: The mean age at the first infectious signs was 12.3 +/- 9.3 days and neurological manifestations were first seen at 18.3 +/- 7.7 days. Acyclovir was given intravenously for 2 to 4 weeks at doses of 30 mg/kg/24 hr (5 patients) or 60 mg/kg/24 hr (7 patients) at an average of 7.7 days after the first clinical manifestations. The initial dose of 30 mg/kg/24 hr was increased to 50 or 60 mg/kg/24 hr in 3 patients. Five patients died during treatment, and 5 had severe sequelae; follow-up for the 2 remaining patients was not possible. There was no correlation between prognosis and the dose of acyclovir, which was well tolerated in all patients. CONCLUSIONS: The best results are obtained when treatment is started early. This retrospective study failed to show any dose-dependent difference in the efficacy of acyclovir. A prospective study with different doses would be useful.

Acyclovir↗
PubMed1983

[Primary immunologic deficiencies and cancer. 5 anatomo-clinical case reports].

Five patients with primary immunodeficiency and cancer are presented. Two children with ataxia-telangiectasia developed acute lymphoblastic leukemia and malignant lymphoma of B-like origin with chromosome damage and unusual prevalence of antibodies to E.B.V. early antigen. A bone sarcoma occurred in a patient with common variable hypogammaglobulinemia. At least two infants who died with severe combined immunodeficiency had at autopsy congenital myelomonocytic leukemia and malignant lymphoma. These cases indicate the high risk for development of cancer in patients with primary abnormalities of the immune system and suggest the heterogeneity and complexity of pathogenic mechanisms.

Agammaglobulinemia↗
PubMed1983

[Retrospective study of 56 congenital diaphragmatic hernias. Prognostic factors, therapeutic deductions].

Fifty-six neonates were treated for congenital diaphragmatic hernia (48 left and 8 right) in our intensive care unit from 1972 to 1980. Because of the high mortality, we studied the factors which could predict the outcome. Early onset of symptoms (before the 2nd hour of life) and low post-ductal shunt (PAO2/FiO2 less then 15) after the 3rd postoperative hour appear to be signs of poor prognosis. Our present attitude is early surgical procedure, controlled ventilation with a FiO2 1 with Pancuronium, prevention of pneumothorax and different use of pulmonary arterial vasodilatators.

Hernia, Diaphragmatic↗
PubMed1980

[Neonatal hernias of the dome of the diaphragm. Why a gloomy prognosis?].

The prognosis is neonatal hernias of the dome of the diaphragm remains extremely gloomy. Associated malformations, prematurity or dysmaturity, cannot explain it. The surgeon is now faced with conditions diagnosed in the labour room, which he previously never saw (and which therefore did not figure in his statistics). Those forms in which the lung gas exchange area is reduced are above all those in which there is a syndrome of persistence of foetal circulation. The association of drugs from the alphalytic group (tolazoline) and curarising agents (pancuronium) is often effective without having completely resolved the problem.

Hernia, Diaphragmatic↗
PubMed1980

[Severe blood coagulation disorder as the first sign of a peritoneal hemangio-endothelioma: a new therapeutic approach (author's transl)].

The authors describe a 3 1/2 month old infant with hemangio-endothelioma and a severe blood coagulation disorder. The tumor was inoperable and the severe blood coagulation disorder posed considerable therapeutic problem. After treatment with massive amounts of blood clotting factors, an antifibrinolytic drug and radiotherapy, the child's condition improved.

Blood Coagulation Disorders↗
PubMed1979

[Serum creatine kinase isoenzyme as a reflection of neonatal cerebral distress (author's transl)].

The BB fraction of serum creatine kinase was estimated in 3 groups of newborn : 30 healthy newborn at term, 20 newborn ill but without cerebral distress, 17 newborn with acute perinatal or foetal distress. In the first two groups, BB fraction was negligeable or nil, in respectively 26 and 16 cases, and between 1 and 4% in 4 cases. In the third group, it was greater than 4% in 10 cases, nil in 6 and 4% in one. The lability of this isoenzyme over periods of time, and in relation to temperature, requires the use of clearly defined techniques of sampling, storage and estimation, which may explain the false negatives seen. The determination of this isoenzyme, virtually exclusively cerebral, would thus appear to be a reliable biological indicator of neonatal cerebral distress.

Acute Disease↗
PubMed1979

[Emergency treatment of inborn amino errors of amino acid metabolism detected in the neonatal period].

The indications and effects of exchange transfusion, peritoneal dialysis, osmotic diuresis and early feeding have been studied in 28 children with inborn errors of aminoacid metabolism presenting in the neonatal period. Exchange-transfusion has only a transitory and incomplete effect but it is simple and quick. Peritoneal dialysis has a remarkable and often life-saving effect because the blood levels of toxic metabolites are reduced very effectively in organic acidaemias. However the rate of removal may decline if plasma concentrations fall below a critical level (1.2 mmol/L foor leucine). If the dialysis is prolonged for more than 36 hours it may cause hypoprotidaemia. Osmotic diuresis increases the 45 ml/min. However it is of little elimination of methylmalonic acid because the renal clearance is between 15 and 45 ml/min. However it is of little value in maple syrup urine disease, propionic acidaemia or isovaleric acidaemia because the renal clearance of the toxic metabolites is so low. The early re-introduction of low protein high calorie of a low protein and high calorie diet by continuous intragastric feeding is very important. The authors propose a protocol for the treatment of babies presenting inborn errors of aminoacid metabolism in the neonatal period. Peritoneal dialysis should be started as soon as the diagnosis is considered and continued for 24 to 36 hours. An exchange of transfusion shold be undertaken before and after the dialysis, together with an osmotic diuresis if appropriate. Continuous enteral feeding should be given, the quantity being adjusted to the baby's requirements.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

[De novo monosomy 4q32.1 leads to 4qter in a newborn with multiple malformations (author's transl)].

In a newborn with multiple malformations, deletion 4q32.1 leads to 4qter was observed after BrdU incorporation and staining with acridine orange. The patient's phenotype and that of five children monosomic for 4qter reported in the literature define a syndrome with a high rate of mortality due to major respiratory difficulties, laryngeal hypotonia and oedema, and complex congenital heart malformations.

Abnormalities, Multiple↗