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Biomedical subjects

J J Louis

Publications and source records attributed to J J Louis.

At least 19 recordsLinked to original sources
PubMed1993

[Primary hyperparathyroidism in 2 adolescents].

The authors report on two cases of primary hyperparathyroidism (PHP) in adolescents. In a 15-year-old boy, the clinical picture included skeletal, dental, renal and psychological manifestations. In the second case, the first symptom was urolithiasis at age 12; following a period without any important clinical event, the diagnosis was established when the patient was 18. In both cases, increased calcium and low phosphorus plasma levels associated to moderately elevated plasma parathyroid hormone levels were noted. CT scan and ultrasounds were normal but MRI showed an enlarged gland in the second case. The surgical exploration of the neck revealed an adenoma in the first case and a hyperplastic gland in the second one. Surgery was followed by an immediate improvement of both clinical and laboratory findings. These observations bring us to examine the spectrum of PHP in childhood, the difficulties in biological diagnosis and localizing techniques, and the recent results of surgical treatment.

Adolescent↗
PubMed1990

[Prognosis of canal treatment. Success and failure].

This clinical review confirms the very positive prognosis for endodontic therapy, conditional to strict compliance with imperatives. Endodontics failures are transient and can be remedied. The authors define the attitude to be adopted and the measures to be taken in accordance with the type of difficulty encountered.

Humans↗
PubMed1986

[Plant prickle arthritis in children. Apropos of 6 personal cases].

Six children with arthritis after penetration of a vegetable prickle into the joint are reported. The affected joints were the knee (5 fold) and the elbow (1 fold). The prickles were of palm-tree (2 cases), sloe-tree (2 cases) or unknown (2 cases) origin. The culture of the synovial fluid was negative and the diagnosis was based on microscopic examination of the centrifugated fluid. Four patients needed synovectomy.

Arthritis↗
PubMed1984

[Diffuse cortical nephroblastomatosis. Apropos of a case].

The authors report a case of massive bilateral, and asymmetric nephroblastomatosis which was treated successfully by nephrectomy and chemotherapy. The authors discuss the clinico-pathologic significance of the present case and insist upon the requirement of a treatment (i-e-chemotherapy) in every case.

Child, Preschool↗
PubMed1984

[Dyssegmental dwarfism. A new case].

In a 3 1/2 month old child with micromelic dwarfism, a case of dyssegmental dwarfism is reported. This affection is characterized, on one hand, by a shortening and a squat aspect of long bones with diaphyseal curve, and on the other hand, by a trouble of vertebral segmentation associated to a variability in the size of vertebral bodies. The differential diagnosis appears adequate to differentiate the dyssegmental dwarfism from other types of neonatal chondrodysplasia, in particular from Kniest syndrome and micrognathia dwarfism.

Bone and Bones↗
PubMed1984

[Cysteamine in the treatment of cystinosis in children. In vitro and in vivo studies].

The effect of cysteamine was studied in 6 children with nephropathic cystinosis. In 3 of them an in vitro study on fibroblasts was performed. The cystine content of fibroblasts was immediately diminished (about 90% of total cystine content) as soon as the concentration of cysteamine in the medium was greater than or equal to 0,1 mmole/l. In vivo, 50 to 89 mg/kg/day of cysteamine was administered for 9 to 37 months (mean 21,3). There was no adverse reaction. In all cases a dramatic decline in leukocyte cystine level was observed (in 5 cases the level was within the range seen in clinically unaffected heterozygotes). Growth was not improved. The renal function was stabilised in 3 cases. Photophobia which was present in 4 children decreased in 2 cases or disappeared in 2 cases.

Cells, Cultured↗
PubMed1983

[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency].

The authors describe a case of mucolipidosis I, the 9th reported in the world literature. The diagnosis was suspected in a 5 year old boy, from the appearance of hurler-like facial features. Lumbar kyphosis, dysostosis multiplex, cherry-red macular spot and foam cells in the bone marrow and it was confirmed by the characteristic oligosacchariduria (on thin layer chromatography) and excess sialic acid in cultured fibroblasts which also showed profoundly diminished activity of alpha D Neuraminidase (on two substrates - N-acetyl-Neuramin Lactose and 4 Methyl umbelliferyl N-acetyl-Neuraminide). The parents had intermediate enzyme activities, suggesting heterozygotism. After a review of the literature, the authors attempt to define the place of mucolipidosis I in the sialidoses.

Acetylglucosaminidase↗
PubMed1982

Hypocalcemia in infants of diabetic mothers. Studies in circulating calciotropic hormone concentrations.

Twenty-two infants of diabetic mothers (IDM) were studied and were divided into two groups: a first group of 14 IDM did not receive vitamin D3 and was studied at birth and at 2, 24, 48 and 120 hours; a second group was given daily dosage of 60 microgram of vitamin D3 from 3 hours to 120 hours and was studied at 2 hours and 120 hours. In the first group, serum calcium levels decreased markedly during the first 24 hours of life (mean +/- SD: 1.77 +/- 0.3 mmol/l, p less than 0.01) and remained low at 5 days. Serum phosphorus levels remained normal but serum magnesium levels decreased significantly at 24 hours (mean +/- SD: 0.64 +/- 0.108 mmol/l, p less than 0.01) and returned to normal at 5 days. Serum immunoreactive parathormone levels increased consistently to high levels at 24 hours and remained elevated at 120 hours (p less than 0.001). Serum immunoreactive calcitonin levels increased at 24 hours (p less than 0.001) and decreased at 120 hours to low or undetectable values in all infants. In group II, serum 25O-HD levels and 1.25 OH2 D levels increased significantly (p less than 0.001) respectively to 27.2 +/- 2.7 ng/ml and 114 +/- 20 pg/ml at 5 days. The results of this study show hypocalcemia to be a common event in IDM during the first days of life and furthermore hypophosphatemia, hypoparathyroidism, hypomagnesemia or defect of vitamin D metabolism would not seem to be the main etiological factors.

Calcifediol↗
PubMed1982

[A case of leprechaunism].

The authors report the case of an term infant weighing 2,860 kgs, who presented with failure to thrive during the two first months of life. Clinical features suggested the diagnosis of leprechaunism. After a review of the literature, the authors conclude that the diagnosis of this rare condition is essentially a clinical one, as there are no specific laboratory tests.

Abnormalities, Multiple↗