Search PubMed⌕ Search

Biomedical subjects

N Nigro

Publications and source records attributed to N Nigro.

At least 19 recordsLinked to original sources
PubMed1997

Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.

The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map to that location. To date, none of the cases of complex GKD have been associated with ACC. Here, we report on a patient with a complex phenotype as a result of the Xp21 contiguous deletion syndrome in association with ACC. Biochemical, cytogenetic, and molecular analyses were performed to detect and establish the size of the genomic deletion. It is at least 3 million base pairs in length; however, exact limits could not be determined in the present study. Nevertheless, we suggest the presence of a primary gene involved in the embryogenesis of the corpus callosum between Xp21.1 and Xp22.11.

Agenesis of Corpus Callosum↗
PubMed1997

[Cytokines and chemokines in child physiopathology].

The paper reviews the modern knowledge of cytokines in physiopathology. Particular interest is expressed in their role in the endocrine system and, for chemokines, their role in the induction of leukocyte chemotaxis and the body's reaction (not only immune) to special situations and stimuli, for example infections (HIV, TBC, etc.), transplant reject, etc.

Chemotaxis, Leukocyte↗
PubMed1997

["Pediatric" forms of Creutzfeldt-Jakob disease (nvCJD)].

The authors propose the name of pediatric CJD disease (nvCJD) for those forms of this pathology which appear in childhood and adolescence (about twenty cases have been reported in Europe: 1996). The "pediatric form" differs both in terms of age ("teenagers" and also 16-year-old), but also owing to its long course (mean of 14 to 35 months) and the early onset of psychiatric and sensory symptoms. Until a few years ago, discussion of a new pediatric-adolescent form of the disease (new variant of CJD) would have been laughable.

Child↗
PubMed1996

[Prions and infantile pathology].

The authors briefly review the problem of prions pathology (with particular emphasis on children). The outstanding interest of the subject justifies this review.

Animals↗
PubMed1996

Prion-induced neuro-psychiatric syndromes.

Although further research is needed, the most recent thinking is that prions are tiny protein particles without DNA or RNA which have the ability to infect humans or animals. Prions cause slow infections which are fatal, experimentally transmissible, evoke no immune resistance from the infected host and are more resistant to disinfectants and chemical or physical agents than the other micro-organisms that proliferate in the infected host. Update no evidence of possible passage by mouth from cows to men with consequent illness.

Animals↗
PubMed1995

[On the diagnosis of so-called "constitutional" bone diseases].

The authors review the diagnosis process of so-called "constitutional" bone diseases. They criticize the nomenclature and international classification of them and suggest a diagnostic classification which is virtually independent of structural and metabolic criteria: based on the site and extent of pathological manifestations. The paper also examines the term "dysmorphia", given that it is the shape of the bone segment which initially attracts and guides the clinical diagnosis of embryonal osteochondropathies and suggest it.

Body Constitution↗
PubMed1995

The diagnosis of so-called "constitutional" bone dysmorphias (embryonal osteochondropathies).

The authors review the diagnosis of so-called "consitutional" bone diseases. They criticise the international nomenclature and classification of the latter and propose a diagnostic classification for embryonal osteochondropathies, which is virtually independent of the structural and metabolic criteria, based on the criterion of site and the extent of pathological manifestations. They also examine the term "dysmorphia" given that it is the shape of the bone segment which first attracts attention and guides the clinical diagnosis of embryonal osteochrondropathies.

Bone Diseases↗
PubMed1994

Some objections to the international nomenclature for constitutional diseases of the bone.

The International Nomenclature of Constitutional Diseases of Bone is criticised and the concept of embryonic osteochondropathy is proposed as an alternative approach. It is claimed for example that the term "constitutional" has no real scientific or, above all, medical meaning. The defects of this "official" nomenclature are highlighted and a slimmer classification system of use in the diagnosis of osteochondroblastic mesenchymopathies is recommended.

Bone Diseases, Developmental↗
PubMed1985

Cancer of the anal canal. Model for preoperative adjuvant combined modality therapy.

An analysis of preoperative multimodality adjuvant therapy with 5-fluorouracil, mitomycin-C, and radiation therapy revealed that 38 of 45 patients (84 percent) treated were rendered free of cancer after chemotherapy/radiation therapy. No recurrence of tumor has been noted in those patients rendered free of disease by the preoperative treatment. Seven patients (15 percent) with residual macroscopic or microscopic cancer after preoperative therapy have had recurrence, all in distant sites. These seven patients have died from the disease. The prognosis for patients in this series depended on the success of the preoperative therapy in eradicating all tumor prior to surgery. Mitomycin-C and 5-fluorouracil are cytotoxic for local disease and for microscopic distant disease as well. Abdomino-perineal resection is unnecessary for patients whose primary tumor is eradicated by the preoperative therapy. The role of the relatively low dose of radiation therapy needs to be further defined.

Adult↗