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Biomedical subjects

G Pianetti

Publications and source records attributed to G Pianetti.

8 recordsLinked to original sources
PubMed2006

Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome.

Several mutations in the CFH gene have been described in non-Shiga-toxin-associated haemolytic uraemic syndrome (non-Stx-HUS), a rare syndrome characterized by haemolytic anaemia, thrombocytopenia and acute renal failure. Mutations in genes encoding other complement regulatory proteins, membrane cofactor protein (CD46) and complement factor I (CFI), were also involved in the pathogenesis of the disease. Anyway, mutations in the three genes account for no more than 50% of cases of non-Stx-HUS. Human complement factor H related 5 (CFHR5) is a recently characterised member of the human complement factor H (CFH) family that has been found as a component of immune deposits in human kidney with sclerotic lesions from different causes. CFHR5 possesses cofactor activity and has been proposed to play a role in complement regulation in the glomerulus. We screened CFHR5 gene for variations potentially involved in the aetiology of HUS. Forty-five patients with HUS and 80 controls were analysed. Altogether, 5 genetic variants in CFHR5 were found in overall 9/45 HUS patients and in 4/80 controls. Statistical analysis showed that allelic variants in CFHR5 were prefentially associated with HUS. Based on these data, we conclude that, though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS.

Alleles↗
PubMed2000

[Microsurgical anatomy of sellar region in cadavers using a photographic technique with fluorescein].

The microsurgical anatomy of sellar regions in 20 cadavers with a 12 hours maximum post mortem was studied. Fluorescein was used as contrast for vascular anatomy examination. The use of fresh specimen and fluorescein had the objective of avoiding any distortion of normal anatomy. The drug was diluted with water or, in order to have more consistency, in gel for ultrasonography. Contrast injection was made into the internal carotid artery and photographs were taken with three different kinds of lighting: 1) only with Wood's lamp; 2) Wood's lamp and normal white light; 3) only with white light. Lighting only with Wood's lamp showed more contrast. After measurement, data often showed discrepancies with other authors' data. The photographic technique with fluorescein is simple and accessible; the drug showed high quality as a vascular contrast for neuroanatomic research.

Adolescent↗
PubMed1999

Immunological evaluation of a 26-kDa antigen from Taenia solium larvae for specific immunodiagnosis of human neurocysticercosis.

Human neurocysticercosis, due to infection of the central nervous system by cysticerci of Taenia solium, is a severe form of neurologic disease occurring in Central and South America. Specific proteins from scolex antigen from cysticerci were purified by polyacrylamide gel electrophoresis and electroelution and recognized in Western blots by antibodies present in sera from patients with neurocysticercosis. The proteins appeared as 13-, 17-, and 26-kDa bands on Coomassie blue-stained gels and proved to be specific to cysticerci of T. solium. No cross-reactivity with sera from patients with taeniasis or hydatidosis was observed. Enzyme-linked immunosorbent assay using the purified proteins of 13, 17, and 26 kDa demonstrated rates of 53%, 88%, and 100% specificity, respectively, at the cutoff serum dilution of 1:32 for the specific immunodiagnosis of human neurocysticercosis.

Animals↗
PubMed1998

[Choroid plexus tumors].

This analysis comprises 15 children under 16 years of age, with choroid plexus tumors, seen in the Service of Paediatric Neurosurgery, Hospital das Clínicas and Hospital São Francisco de Assis in Belo Horizonte, Brazil, between 1981 and 1996. The patients were aged between 4 months and 16 years (average of 3 years and a half); 10 were less than 2 years, 9 were female; 14 children had clinical evidence of intracranial hypertension. All the children underwent CT scan and the choroid plexus tumors were clearly demonstrated in 14 of then. In 8 children the tumors were located in one lateral ventricle, 5 in the fourth ventricle and 2 had the tumors in more than one ventricle, 11 children required ventriculo-peritoneal shunt; 14 cases were operated on, 13 with total excision; 2 children died, respectively 7 days and one year after the surgery. Pathological examination revealed papillomas in 12 cases and carcinoma in two cases.

Adolescent↗
PubMed1997

Surgical treatment of premature sagittal synostosis.

A series of 50 consecutive children with premature sagittal synostosis is reported. All were treated surgically; 43 were male, 47 were leukodermic and two are siblings. In the pre-operative examination, the head shape, skull measurements and radiologic findings were evaluated; 38 children were operated on before six months of age and 12 of them, between six and 12 months of age. The surgical technique used was a wide biparietal craniectomy. Blood transfusions were occasional, being necessary for only six (12%) children. The children were admitted at the day of surgery and discharged between the second and third post-operative day. No local or general complications were observed and no one died. The aesthetic result was considered good. The altered skull measurements before surgery reached normalization as far as the end of the first year after the treatment. It may be concluded that wide biparietal craniectomy is a procedure of great effectiveness in the treatment of the premature fusions of the sagittal suture.

Craniosynostoses↗
PubMed1975

Iophendylate cisternography in diagnosis of cerebellopontine angle tumors. Report of 60 cases.

60 cases of bilateral cerebellopontine angle pantopaque cisternography done between May, 1972, and April, 1974, are reported. Of these, 9 showed a unilateral acoustic neurinoma of different sizes, 1 showed a bilateral acoustic neurinoma all confirmed by operation. Technical details and advantages of the procedure are discussed. There were no complications related to the procedure.

Adult↗