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Biomedical subjects

J Furioli

Publications and source records attributed to J Furioli.

14 recordsLinked to original sources
PubMed2004

[Symptomatic rickets in adolescents].

Although systematic vitamin D supplementation in adolescents remains debated, rickets is nevertheless a well recognized pathology in this age group. Adolescence is an at-risk period because of rapid growth, insufficient calcium intake and/or vitamin D status. Surveys have shown that calcium intake is insufficient (< 1000 mg a day) in 45% of boys and 71% of girls and that vitamin D status is deficient (25-OH-D < 10 ng/ml). The aims of the study carried out by the Calcium Group of the Société Française de Pédiatrie, were to evaluate the frequency of rickets, and to define the criteria for the adolescent population at risk. Forty-one adolescents with rickets were hospitalized between 1985 and 2000. Most of the cases were from the Northern France: 20 from Paris and suburbs, eight from the North-West, four from the North, four from the North-East; five were from the Center of France. The mean age was 13 years and two months for the 28 girls, and 14 years and four months for the 13 boys. Eighty per cent of the adolescents were from immigrant families (33/41): 15 were from sub-Saharan Africa, ten from North Africa, six from Pakistan and two from Turkey. Two thirds of the adolescents were hospitalized in the 2nd quarter of the year. Some adolescents suffered from lower limb pain, 16 had deformations of lower limbs, particularly genu valgum, associated with pain; seven others had either muscle spasms (4), tetany (3). Serum calcium level was low (average 1.84 mmol/l: [1.1-2.5]), and serum 25-OH D level was extremely low. Radiographic characteristics observed were metaphyseal strips on the knees, with condensed edges at times, with the presence of bone demineralization. The treatment combined calcium and vitamin D, and was often administered intravenously when a hypocalcemia was detected. Rickets is not frequent in adolescents, but nonetheless this pathology is not exceptional, and the number of cases is probably under-estimated. Rickets affects immigrant adolescents in particular but nevertheless could also present a certain risk period for the general population.

Adolescent↗
PubMed1997

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.

Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneity is observed in LPL deficiency in different populations. However, a founder effect has been reported in certain populations, such as French Canadians. Although familial chylomicronemia is observed in Morocco, the molecular basis for the disease remains unknown. Here, we report two unrelated Moroccan families of Berber ancestry, ascertained independently in Holland and France. In both probands, familial chylomicronemia manifested in infancy and was complicated with acute pancreatitis at age 2 years. Both probands were homozygous for a Ser259Arg mutation, which results in the absence of LPL catalytic activity both in vivo and in vitro. In heterozygous relatives, a partial decrease in plasma LPL activity was observed, sometimes associated with combined hyperlipidemia. This mutation previously unreported in other populations segregated on an identical haplotype, rarely observed in Caucasians, in both families. Therefore, LPL deficiency is a cause of familial chylomicronemia in Morocco and may result from a founder effect in patients of Berber ancestry.

Adolescent↗
PubMed1993

Granulomatous cheilitis in two children with sarcoidosis.

Sarcoidosis is rare in children, who usually have only asymptomatic pulmonary involvement. We report granulomatous cheilitis in two children with sarcoidosis. Both children had systemic sarcoidosis with lymph node and pulmonary involvement.

Child↗
PubMed1990

[Nail-patella syndrome without extra-renal lesions. A new hereditary glomerular nephropathy].

We observed an unusual glomerular disease in eight pediatric patients. Clinical features of this early, progressive renal disease included increased blood pressure in many cases, extrarenal hematologic and pulmonary symptoms, and, in one of our patients and two genetically related children, hemolytic uremic syndrome with thrombotic microangiopathy resulting in permanent renal failure. Histologic studies showed major and complex modifications of glomerular capillary walls and electron microscopy disclosed numerous bundles of fibrillar collagen within the extracellular glomerular matrix. Clinical and genetic investigations out-ruled hereditary osteo-onychodysplasia, a condition in which fibrillar collagen is found within glomerular basement membranes. In addition results of family studies were consistent with autosomal recessive transmission of this new entity.

Adolescent↗
PubMed1990

[Hypocalcemic seizures in two newborn siblings revealing hyperparathyroidism in the mother].

We report the case of a term neonate who developed hypocalcemic seizures due to transient hypoparathyroidism on the sixth postnatal day. His brother had had a similar episode after his birth four years earlier. The mother was free of symptoms and had normal calcium and phosphorus levels at the first evaluation. However, repetition of these determinations with a parathormone assay led to the diagnosis of hyperparathyroidism. A parathyroid adenoma was found and removed surgically. This case-report is the opportunity for reviewing presenting manifestations, diagnostic difficulties, potential complications of this infrequent maternofetal condition, and therapeutic aspects.

Adenoma↗
PubMed1989

[Tinea capitis presenting as staphylococcal pyodermatitis of the scalp].

Two severe cases of pyoderma (staphylococcus aureus) of the scalp, resistant to appropriate antibiotic treatment, proved to be due to exotic dermatophytes (Trichophyton soudanense and Trichophyton violaceum) in two North African children living in France. Both cases exemplify the growing number of Tinea capitis due to anthropophilic species imported from Africa by immigrated populations, their sometimes atypical clinical presentation and their familial epidemiology. Fungal cultures and identification procedures are essential for the diagnosis and epidemiological investigation of such cases.

Child, Preschool↗
PubMed1988

Neonatal meningitis due to Gardnerella vaginalis.

A case of meningitis due to Gardnerella vaginalis occurred in a five-day-old newborn who had clinical signs of fever, polypnea and a grey complexion. After treatment with ampicillin, cefotaxime and netilmicin, the patient's condition improved, and no sequelae were observed. The bacterium isolated from a pure culture of the cerebrospinal fluid was identified by biochemical characteristics to be Gardnerella vaginalis, but it was not possible to define the source and mode of contamination.

Ampicillin↗
PubMed1985

[Alder's anomaly in mucopolysaccharidosis type VI. Cytological, cytochemical and ultrastructural study].

A cytological study of the blood and bone marrow of a child with mucopolysaccharidosis with Alder's anomaly was analysed at the optical and ultrastructural level. Morphological abnormalities of the blood and bone marrow leucocytes are defined; cytochemical and cytoenzymological abnormalities are indicated, allowing a differential diagnosis with "toxic granulations". The ultrastructural patterns of the storage cells are described compared to descriptions in the literature and the question of their mastocytic or macrophagic filiation is discussed.

Bone Marrow↗
PubMedDate not supplied

[Indifference to pain secondary to congenital sensory neuropathy. Apropos of a new case].

The authors report a new case of indifference to pain secondary to hereditary sensory neuropathy in a 3 year 9 month-old boy. This child presented with isolated diffuse deficiency of pain and heat sensitiveness with preserved touch without any other neurologic involvement or anhidrosis. Nerve biopsy showed the complete lack of amyelinic fibers. P substance, which might act as a mediator or modulator of the nociception, was absent from the cutaneous nerve endings.

Child, Preschool↗