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Biomedical subjects

P Guibaud

Publications and source records attributed to P Guibaud.

At least 55 records · Page 3Linked to original sources
PubMed1989

[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin].

The authors report 2 familial cases of biotin deficiency. The first neurological signs appeared at the age of 2 years in a boy. The diagnosis was established in his sister in the neonatal period. A review of 41 published cases summarizes the neurologic signs (seizures, ataxia, hypotonia and later, developmental delay and deafness) and the cutaneous signs (rash, alopecia). An early treatment with biotin cures or prevents the clinical signs of the disease in most cases.

Amidohydrolases↗
PubMed1988

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.

Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called "peripheral form" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin.

Biogenic Amines↗
PubMed1988

[Alpha-fetoprotein and trisomy 21].

In 31 affected pregnancies with Down syndrome, the median maternal serum alpha-fetoprotein value was lower than normal, 0.76 MoM, and median amniotic fluid value was quite normal, 0.98 MoM. Selecting an arbitrary cutoff-point of 0.5 MoM, 4.1 percent of normal gestations show values less than 0.5 MoM. Authors discuss problems about screening for fetal Down's syndrome by measuring maternal serum AFP levels.

Amniotic Fluid↗
PubMed1988

[Neurologic manifestations of arterial hypertension in children].

Neurological complications of arterial hypertension are analyzed in 31 children (mean age = 9 years). All patients presented a renal or renovascular disease (acute nephritis + hypoplastic dysplasia , transplantation = 58%) for which malignant hypertension was the first symptom in 16%. The mean +/- SD initial blood pressure was 189 +/- 33/113 +/- 25 mm Hg and was preceded by previous symptoms in 1 patient out of 6. Neurological abnormalities consisted in seizures (48%), acute intracranial hypertension (39%), cranial palsy (23%), coma (19%), hemiplegia/paresia (16%), retinal changes (6%) or aphasia (6%). The EEG was abnormal in 50% of the patients, sometimes showing permanent paroxysmal activity. Neuroradiologic investigations revealed hemorrhagic and/or ischemic lesions in 1/5 patients. On follow-up, hypertension disappeared in 41% of the children; a decrease in renal function was noted in 56% of the patients at the last examination; neurological sequellae were present in 40% (EEG anomalies +/- epilepsy, motor deficit, retinal changes, psychomotor delay, cranial palsy) and 1 patient died. The morbidity of malignant hypertension stresses the importance of early diagnosis and treatment (calcium channel blockers) when its prevention is not possible.

Adolescent↗
PubMed1988

[Glycogenoses type 1b and 1c].

In type 1 glycogen storage diseases, glucose-6-phosphatase may be present but associated with impaired transport of glucose-6-phosphate (type 1b) or inorganic phosphate (type 1c) through microsomal membranes. The type 1c is very rare (2 published cases). The more frequent type 1b presents all the clinical manifestations of type 1a and specific signs: recurrent stomatitis, frequent infections, chronic inflammatory bowel disease secondary to neutropenia and neutrophil dysfunction. Glucose-6-phosphatase activity is low when measured on fresh liver tissue, but is restored after detergent treatment. A good metabolic control does not influence neutropenia and its consequences.

Glycogen Storage Disease Type I↗
PubMed1988

[Long-term course of hepatic glycogenosis. A retrospective study of 76 cases].

In order to study the long term outcome of hepatic glycogen storage diseases, a national retrospective inquiry gathered 76 patients older than 12 years. In adolescents and adults, hypoglycemia, failure to thrive, pubertal delay, hepatomegaly and metabolic disturbances are major in type I, intermediary in type III and mild in type "VI+IX". Spontaneous improvement of these symptoms is noted in older patients. Beside these classical signs, anemia, high blood pressure, renal failure and persistent hypercholesterolemia were reported in some type I glycogen storage disease and bad school and professional results in type III. The knowledge of these complications should lead to a better management of these patients.

Adolescent↗
PubMed1988

[Genetic heterogeneity of cystinuria. Study of 12 families].

The authors attempted to predict the genotypes of 15 cystinuric children, from the results of oral lysine loads on the propositus and the urinary excretion rates of cystine, lysine, ornithine and arginine of their parents and siblings. Type I cystinuria is more common, as well in the homozygous state, as in combination to type II or III (compound heterozygous genotypes).

Adolescent↗
PubMed1988

[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].

A new case of lysinuric protein intolerance is described in a 14 year-old Maghrebian child who presented with growth failure, vertebral osteoporosis, aversion to proteins and digital hippocratism, rarely described in this disease. Orotic aciduria was studied after a protein load with and without citrulline supplement and during the course of a 11 month-treatment. There was a clear relationship between orotic aciduria, protein intake and citrulline supplementation. Orotic aciduria appears to be very useful to adjust the treatment.

Adolescent↗
PubMed1987

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

Three children in two unrelated families are affected by carbonic anhydrase II (CA II) deficiency. This disease has been reported in 27 other patients to date; the study of the pedigrees indicates that it is supported by autosomal recessive inheritance. All the patients have a very high CA I/CA II ratio (greater than 10(4) versus 6 to 10 in controls) and carrier detection is possible in obligate heterozygotes (CA I/CA II = 12 to 17). The clinical presentation consists in renal tubular acidosis, osteopetrosis and cerebral calcifications. The long term follow-up of these patients shows that the prognosis is mainly of neurological and mental expression.

Acidosis, Renal Tubular↗
PubMed1987

[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].

Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.

Creatine Kinase↗
PubMed1986

[A new case of glucose-galactose malabsorption].

The authors report a new case of glucose-galactose malabsorption. The particular features of this neonatal life-threatening refractory diarrhea are recalled. The dietetic management which permits a normal growth and psycho-intellectual development is described. The pathophysiological mechanisms of this malabsorption is elucidated from a review of the literature which specifies the autosomal, recessive mode of inheritance.

Diarrhea, Infantile↗
PubMed1986

[Portacaval anastomosis in 2 cases of homozygote familial hypercholesterolemia].

We report the cases of two siblings, both suffering from familial hypercholesterolemia in homozygotic form, followed up before and after portacaval shunt. A total parenteral nutrition failed to decrease plasma cholesterol levels. However, on the basis of clinical data, a portacaval shunt was performed at the age of seven and five and a half. The two patients showed great effectiveness of the shunt with dramatic regression of clinical signs, reduction of plasma cholesterol, without serious complications over a five to six years period after the shunt.

Child, Preschool↗