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D De Vivo

Publications and source records attributed to D De Vivo.

15 recordsLinked to original sources
PubMed2002

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

BACKGROUND AND OBJECTIVE: Alexander disease is a slowly progressive CNS disorder that most commonly occurs in children. Until recently, the diagnosis could only be established by the histologic finding of Rosenthal fibers in brain specimens. Mutations in the glial fibrillary acidic protein (GFAP) gene have now been shown in a number of biopsy- or autopsy-proven patients with Alexander disease. A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAP gene sequencing as the confirmatory assay. METHODS: Patients who showed MRI white matter abnormalities consistent with Alexander disease, unremarkable family history, normal karyotype, and normal metabolic screening were included in this study. Genomic DNA from patients was screened for mutations in the entire coding region, including the exon-intron boundaries, of the GFAP gene. RESULTS: Twelve of 13 patients (approximately 90%) were found to have mutations in GFAP. Seven of those 12 patients presented in infancy with seizures and megalencephaly. Five were juvenile-onset patients with more variable symptoms. Two patients in the latter group were asymptomatic or minimally affected at the time of their initial MRI scan. The mutations were distributed throughout the gene, and all involved sporadic single amino acid heterozygous changes that changed the charge of the mutant protein. Four of the nine changes were novel mutations. CONCLUSIONS: In symptomatic and asymptomatic patients with a predominantly frontal leukoencephalopathy by MRI, GFAP gene mutation analysis should be included in the initial diagnostic evaluation process for Alexander disease.

Adolescent↗
PubMed2001

Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical features of NNH are similar to those of patients with mitochondrial DNA (mtDNA) depletion. Therefore, we studied mtDNA concentration in the liver from 2 patients with NNH. Using histochemical, biochemical, and molecular techniques, we found evidence of mtDNA depletion, and we propose that the primary defect in NNH is in the nuclear regulation of mtDNA copy number.

Citrate (si)-Synthase↗
PubMed1995

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

A T-to-C transition at nucleotide (nt) 9176 in the mitochondrial adenosine triphosphatase 6 (ATPase 6) gene was detected in 2 brothers with a neurological disorder resembling Leigh syndrome. The mutation was also present in the 2 other siblings and in the mother, who were asymptomatic. In the more severely affected boy (the proband), the mutation was homoplasmic in muscle, leucocytes, and fibroblasts. In leucocytes from his affected brother, 98% of mtDNA was mutant. Heteroplasmy of varying degrees was seen in leucocytes from the mother and the 2 unaffected siblings. The mutation changes a highly conserved leucine residue near the carboxyl terminus of the mitochondrial ATPase 6 subunit to proline. It could not be detected in 168 control subjects. Studies of ATP synthesis and hydrolysis in fibroblasts from the proband were normal.

Base Sequence↗
PubMed1993

[Integrated diagnostic imaging in the study of tumors of the periskeletal soft tissues].

Integrated diagnostic imaging is nowadays an extremely valuable tool in the study of periskeletal soft tissue tumors, relative to their diagnosis, prognosis and treatment. In the past, difficulties arose from the complex embryogenetic factors causing the tumors, from the different growth patterns and courses of the lesions themselves, and finally from poor development of technology specifically designed to study the soft tissues. Today, such new imaging methods as CT and MRI exhibit special features allowing the accurate study of the soft tissues and their conditions. The basic method to investigate the relationship of soft tissues to skeleton is still conventional radiology--or xeroradiography--with the soft-ray technique. However, its limitations are well known. US, with the appropriate probes and the correct technique, with comparative and dynamic studies, yields precise information, especially relative to benign tumors. CT allows not only lesion but also tumor staging, together with the study of adjacent structures; moreover, CT angiography provides accurate information as to tumor vascularization. The role of MRI, though still debated, looks extremely promising. Finally, as for angiography, the method has been replaced by newer technologies and thus limited to preoperative vascular mapping.

Angiography↗
PubMed1991

An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.

A patient presenting in the first year of life with feeding difficulties and failure to grow had variable but persistent lactic acidemia noted at age 20 months. Nonspecific nutritional and biochemical therapy was accompanied by improvement in general clinical status, growth, gait, and development. However, she died in a catastrophic illness at the end of the third year of life. Studies in intact fibroblast mitochondria were consistent with an isolated but partial defect in cytochrome c oxidase. On direct assay of this enzyme complex in fibroblast homogenates and mitochondria, activity was much more severely depressed (less than or equal to 8% of control). Her fibroblasts normally synthesized the three cytochrome c oxidase subunits encoded on the mitochondrial genome. These data confirm that this patient had cytochrome c oxidase deficiency and demonstrate significant biochemical heterogeneity, since the results of the intact mitochondrial studies correlate better with her clinical course than do those of the direct enzymatic assays.

Cells, Cultured↗
PubMed1986

[Comparison between isteropac and a new non-ionic contrast medium for hysterosalpingography (B-15000)].

The authors refer the results of a double blind hysterosalpingographic study with a traditional ionic contrast medium (Isteropac) and a new non-ionic one (B-15000). Both the contrast have provided good quality images, without significant intolerance. Moreover the new non-ionic contrast medium has shown an easier utero-tubal transit with a sensible reduction of the examination length and a better diagnostic result.

Adult↗
PubMed1986

[Hysterography and hysteroscopy. Comparative study of 50 patients].

Hysterography and hysteroscopy have been compared in the diagnosis of endouterine benign pathology, in a group of 50 patients, complaining meno-metrorrhagia, sterility, infertility or amenorrhea. Hysterography resulted more sensible (95.3%), but less specific (86.3%) than hysteroscopy (88.8% and 95.6%).

Abortion, Habitual↗
PubMed1985

[Peritubal adhesions and hysterosalpingography].

Hysterosalpingography cannot directly show pelvic adhesions due to pelviperitonitis, salpingitis, perimetritis or parametritis. Nevertheless this method is able to evidence an eventual tubal involvement by adhesive tissue. Located pools of contrast medium around the tubae is a well known radiological sign, but not the only nor the most frequently one observed. If the adhesions include the proximal end of the tubae, the contrast pooling may be absent. This paper analyzes, in controlled series of patients with pelvic adhesions, all the hysterosalpingographic signs which can indicate an adhesive tubal involvement.

Adult↗
PubMed1984

[Prone position in hysterosalpingography].

The authors discuss the importance of prone hysterosalpingography to the aim of a careful tubal examination. Nearly all the complete or partial tubal obstructions, observed during supine hysterosalpingography, have been resolved by the simple prone position. The high percentage (91%) of successes, without pharmacological help, recommends the routine use of this simple method in all cases of doubtful tubal obstructions.

Fallopian Tube Diseases↗
PubMed1983

[Pharmacological test with cerulein during manometric cholangiography via external biliary drainage].

The manometric post-operative cholangiography through external drainage is now a method of everyday use. However in some cases the substenotic appearance of the terminal bile tract and of the Oddi's sphincter gives rise to doubts as to the real cause of this alteration. Caerulein solves the functional hypertone. It also starts a good peristalsis of the terminal bile tract, reducing the intrabiliary pressure and causing an evident transpapillary passage. Thus, the use of this substance allows a differential diagnosis between organic or functional stenosis.

Ceruletide↗