Biomedical subjects

D Rodriguez

Publications and source records attributed to D Rodriguez.

At least 55 records · Page 3Linked to original sources

PubMed2000

Use of arm veins for lower extremity arterial bypass--results, anatomical features and technical considerations.

Forty lower limb bypasses using arm veins were performed on 37 patients. The indications for surgery were limb threat in 50% of cases, graft failure in 33%, aneurysms in 10% and claudication in 7%. Saphenous veins were absent because of prior use in 73% of cases, and because they were unsuitable in 27%. A single vein was used in 48%, 2 veins in 40% and 3 veins in 12% of cases. Seventy-four per cent of cases had a single-vessel run-off below the distal anastomosis. Eighty-two per cent of the distal anastomoses were to infrapopliteal arteries. The primary and secondary rates of these 40 bypasses at a mean follow-up of 14 months (range 1-40 months) were 74% and 90%, respectively. Limb salvage was 94%. Peri-operative morbidity and mortality were 23% and 3%, respectively. The anatomical and technical aspects of harvesting arm veins are critical to the success of this procedure and will be emphasised. We have found arm veins to be a durable source of accessible autogenous grafts for lower limb revascularisation in the absence of suitable saphenous veins.

Aged↗

PubMed1999

Radiation-induced cerebral vasculopathy in children with neurofibromatosis and optic pathway glioma.

Occlusive vasculopathy is a potential complication of radiotherapy in children with optic pathway glioma. With a median follow-up of 7 years, 13 of 69 children in this study developed clinical and radiological signs of occlusive vasculopathy after radiotherapy within a median interval of 36 months. The major risk factor was neurofibromatosis type 1. Radiotherapy should no longer be the first treatment in these settings. When radiotherapy is unavoidable, regular screening for cerebral vasculopathy is mandatory, as preventive treatment is available.

Cerebrovascular Disorders↗

PubMed1999

Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.

We report neuropathological, biochemical and molecular studies on two patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH) syndrome, a leukodystrophy recently defined according to clinical and radiological criteria. Both had severe cavitating orthochromatic leukodystrophy without atrophy, predominating in hemispheric white matter, whereas U-fibers, internal capsule, corpus callosum, anterior commissure and cerebellar white matter were relatively spared. The severity of white matter lesions contrasted with the rarity of myelin breakdown products and astroglial and microglial reactions. In the white matter, there was an increase in a homogeneous cell population with the morphological features of oligodendrocytes, in many instances presenting an abundant cytoplasm like myelination glia. These cells were negative for glial fibrillary acidic protein and antibodies PGM1 and MIB1. Some were positive for myelin basic protein, proteolipid protein (PLP), and myelin oligodendrocyte glycoprotein, but the majority were positive for human 2'-3' cyclic nucleotide 3' phosphodiesterase and all were positive for carbonic anhydrase II, confirming that they are oligodendrocytes. Myelin protein and lipid content were reduced. The PLP gene, analyzed in one case, was not mutated or duplicated. The increased number of oligodendrocytes without mitotic activity suggests an intrinsic oligodendroglial defect or an abnormal interaction with axons or other glial cells. This neuropathological study supports the notion that CACH syndrome constitutes a specific entity.

Ataxia↗

PubMed1999

Allele typing of short tandem repeats by capillary electrophoresis.

Capillary electrophoresis with laser-induced fluorescence was applied to the analysis of six STRs and the amelogenin sex test with the purpose of verifying accuracy and precision of the sizing method with the GS500 internal standard. Sequenced dye-labeled, PCR-amplified alleles from amelogenin, HumVWA31, HumTH01, HumF13A01, HumFIBRA, D21S11 and HumCSF1PO loci were run several times on the same capillary and on multiple capillaries and the offset of computer-measured fragment sizes from the expected molecular weights was calculated and analysed. All loci except D21S11 showed a poor degree of accuracy. Precision results from run-to-run and day-to-day injections displayed a maximum standard deviation (SD) > 0.15 nt for HumVWA31, HumF13A01, D21S11 and HumFIBRA, although the maximum range of calculated sizes in multiple runs was lower than 1 basepair. No variation in precision was observed according to the quality of the DNA template. Allele typing by comparison with allelic ladders for each locus is recommended.

Alleles↗

PubMed1999

[Severe anorexia in infants in Reunion: a new autosomal recessive disease?].

BACKGROUND: Infantile anorexia is usually considered as a psychogenic disorder with benign prognosis. However, unusually severe characteristics of infantile anorexia, seen in the south of the island, seem to us in favor of a new metabolic etiology. POPULATION AND METHODS: Among 38 known cases, we retrospectively studied the best documented observations of 24 children admitted over the last 25 years to our institution. RESULTS: The sex ratio was ten females and 14 males. Twenty-three of the 24 infants lived in formerly isolated localities of the island where other hereditary diseases have been observed with an unusually high frequency. The family pedigrees favoured an autosomal recessive heredity. Severe anorexia, accompanied by irrepressible vomiting (91%), appeared at the age of 8.5 months +/- 3.5. Parenteral (54.2%) or enteral (54.2%) feeding was necessary but did not always avoid death, which occurred in 45.8% of the cases at the age of 24 months +/- 3.5. All of the children which survived had neurological disorders (pyramidal syndrome, ataxia, laryngeal palsy, mental retardation, seizures) which occurred sometimes at an early stage. The investigations did not allow the identification of any known cause. DISCUSSION: The elevated level of lactic acid in the cerebral spinal fluid seemed to indicate a possible mitochondrial disorder, eventually a mutation of an autosomal gene of the pyruvate dehydrogenase complex because of the normal lactate/pyruvate ratio, but enzymatic activities were normal. The cerebral MRI showed features of leukodystrophy. On the other hand, the elevated level of plasma serotonin seemed to indicate a disorder of the serotonin metabolism, for which an animal model exists. CONCLUSION: We propose to name this new syndrome by the acronym 'RAVINE' which associates Reunion, Anorexia, Vomiting which is Irrepressible, and Neurological signs. Linkage study might allow the localization and isolation of a gene and allow one to start understanding the biological mechanism which we suspect to be an hereditary neurobiological eating disorder.

Anorexia↗

PubMed1999

A clinical comparison of Dacron patch closure of small-caliber carotids compared with primary closure of large-caliber carotids after endarterectomy.

The objective was to study results of carotid endarterectomies performed between 1975 and 1991, comparing primary closure to Dacron patch closure. This was a retrospective study. Data from patient follow-up by physical examination, chart review, and Duplex study were used. Scan data were obtained in 92 of the primary cases, at a mean of 5 years postoperatively, and in 63 of the patch cases, at a mean of 4.1 years postoperatively. During this period, 269 endarterectomies were closed primarily and 101 were closed with a knitted Dacron patch. Twenty patients in the primary group and nine patients with patch closure were lost to follow-up, which extended for up to 12.5 years, with a mean of 4.7 +/- 3.6 years. No acute closures, infections or aneurysms developed in either group. Perioperative stroke incidence was 4.1 per cent for primary closure and 3.0 per cent for the patch group (P > 0.05). Late stenosis occurred in 17.3 per cent of the primary group and 11.1 per cent of the patch closure group (P > 0.05). Five-year survival was 76.2 per cent in the primary group, compared with 79.2 per cent for patch closure. Late stroke incidence was 2.8 per cent in the primary group and 3.3 per cent in the patch closure group. Results of smaller (< or = 3.5 mm) carotid arteries closed with knitted Dacron patches are equivalent to those of larger carotid arteries closed primarily.

Aged↗

PubMed1999

[Importance of multidisciplinary consultations for children with neurofibromatosis].

Over a one year period, the multidisciplinary consultation of the Saint-Vincent-de-Paul Hospital for neurofibromatosis examined 26 children. Twenty-two children underwent an ophthalmological examination (21 NF1, 1 NF2). Lisch nodule was the most frequent symptom (12 cases) and corneal nerves were visible in 3 cases. We had only one case of retinal and choroidal hamartoma. Glioma was a frequent symptom (5 cases). Other signs were uncommon. The case of NF2 showed a 3rd nerve palsy and lens droplets. Our evaluation confirms the frequency of Lisch nodules as the most frequent symptom of NF1. The visibility of corneal nerves and hamartoma are suggestive signs. The glioma number fits well with its statistical frequency. One year evaluation of our NF clinic allows us to confirm the relative frequency of the different signs associated with neurofibromatosis. It emphasizes the importance of teaching its diagnosis and follow-up to ophthalmologists.

Adolescent↗

PubMed1998

Polymerase chain reaction typing of D21S11 short tandem repeat polymorphism by capillary electrophoresis. Allele frequencies and sequencing data in a population sample from central Italy.

Blood samples were collected from 100 individuals living in Central Italy and analysed for STR locus D21S11 by capillary electrophoresis on an ABI Prism 310 genetic analyzer. For fragment sizing, PCR amplification products, obtained using a 6-FAM 5'-labeled reverse primer and an unlabeled forward primer, were run with an internal size standard labeled with TAMRA dye and typed using the local reciprocal method. An allele ladder consisting of a mix of sequenced amplified products was also prepared. An Italian population database was established. No deviation from Hardy-Weinberg equilibrium was observed. The result of statistical analysis were highly informative (PD = 0.94; mean exclusion change = 0.66). DNA sequencing was performed on a set of representative alleles by Taq cycle sequencing using dye terminator labeling chemistry. A new structural variant was found.

Alleles↗

PubMed1998

Recombinant viruses expressing a human malaria antigen can elicit potentially protective immune CD8+ responses in mice.

Extensive studies on protective immunity to rodent malaria provided the basis for the current experiments in which mice were immunized with recombinant (re) influenza and vaccinia viruses expressing selected sequences of the circumsporozoite (CS) protein of the human malaria parasite Plasmodium falciparum. Mice of different H-2 haplotypes immunized with re influenza viruses expressing the immunodominant B cell epitope of this CS protein produced high titers of antibodies to the parasite. A cytotoxic T lymphocyte epitope of the CS protein of P. falciparum, PF3, recognized by CD8+ T cells of H-2(k) mice, was expressed in a re vaccinia virus (VacPf) and a re influenza virus (FluPf). Immunization of mice with either FluPf or VacPf elicited a modest CS-specific CD8+ T cell response detected by interferon gamma secretion of individual immune cells. Priming of mice with FluPf, followed by a booster with VacPf, resulted in a striking enhancement of this T cell response. The reverse protocol, i.e., priming with VacPf followed by a booster with FluPf, failed to enhance the primary response. VacPf also greatly enhanced the primary response of mice injected with P. falciparum sporozoites or with a lipopeptide containing PF3. A booster with FluPf also amplified the response of lipopeptide- or sporozoite-primed mice but less than a VacPf booster did. Although mice are not susceptible to infection by P. falciparum sporozoites, we demonstrated that administration of two distinct immunogens expressing PF3 elicited activated, extravasating CS-specific T cells that protected against an intracerebral VacPf challenge.

Amino Acid Sequence↗

PubMed1998

In vivo diagnosis of Kufs' disease by extracerebral biopsies.

In almost all of the earlier reported cases of Kufs' disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs' disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs' disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement.

Adult↗

PubMed1998

Long-term follow up of 69 patients treated for optic pathway tumours before the chemotherapy era.

AIM: To analyse the long-term results of conservative management with radiotherapy in patients with optic pathway tumours. DESIGN: All 69 patients were symptomatic at diagnosis and most neoplasms involved the optic chiasm and hypothalamus. RESULTS: At 10 years, overall survival and progression free survival were 83% and 65.5%, respectively. After radiotherapy, vision improved in 18 patients and remained stable in 29 other patients. Cerebrovascular complications occurred in nine of 53 patients treated with radiotherapy after a median interval of two and a half years. These complications were five times more frequent in patients with neurofibromatosis type 1 (NF1). Severe intellectual disabilities were present in 18 children, most of whom underwent irradiation at a very young age (median age, 4 years). IMPLICATIONS: Radiotherapy is a valuable treatment in terms of tumour response, visual outcome, and progression free survival. However, in young children and in patients with NF1, major sequelae are encountered and new treatment strategies should be proposed for these patients.

Adolescent↗

PubMed1998

Retrospective review of treatment outcome for 63 patients with trichotillomania.

OBJECTIVE: The authors' goal was to assess naturalistic treatment outcome in trichotillomania. METHOD: Sixty-three patients who had been treated in a specialty clinic for trichotillomania over a period of 6 years were contacted. The patients were given paper-and-pencil instruments that assessed current severity of hairpulling, depression, anxiety, self-esteem, and psychosocial functioning. RESULTS: Significant mean improvement was found on measures of hairpulling, depression, anxiety, self-esteem, and psychosocial functioning. Improvement in hairpulling was associated with greater depression at the time of their index clinic evaluation as well as more improvement in depression after treatment. CONCLUSIONS: State-of-the-art behavioral and pharmacological treatments offer substantial clinical benefit to patients with trichotillomania, both in hairpulling symptoms and ancillary measures of functioning.

Adolescent↗

PubMed1998

Polymorphism and sequence variations of the HumCD4 pentameric microsatellite in an Italian population sample.

A sample of 265 subjects from central Italy was analyzed at the HumCD4 locus by polymerase-chain-reaction (PCR). Phenotypes were identified by comparison with a sequenced ladder, after high-resolution horizontal polyacrylamide gel electrophoresis (PAGE) followed by silver staining. A set of representative alleles was sequenced by Taq-cycle-sequencing with dye terminator labeling and capillary gel electrophoresis strategies. Eight common alleles--5, 6, 7, 8, 9, 10, 11, 12--and a rare larger 14, never before described in Caucasians, were found. Allele and genotype frequencies were similar to those described in former studies on Caucasians, with a prevalency of alleles number 5, 6, 10. Sequence analysis showed that the polymorphism is due to a pentameric TTTTC basic motif, tandemly repeated, and that from allele number 10 onwards the fourth repeat presents a T to C translation (CTTTC). Instead, allele number 9 may exist in two forms, because 75% of alleles examined in this study presented the CTTTC motif at the fourth position, while the remaining 25% had the basic repeat structure.

Alleles↗

PubMed1997

Bcl-2 prevents nitric oxide-mediated apoptosis and poly(ADP-ribose) polymerase cleavage.

Toxic effects of nitric oxide (NO) were suggested to be mediated by its metabolite peroxynitrite, a strong oxidizing agent. To determine if antioxidative effects of Bcl-2 protooncogene can prevent NO-mediated apoptosis, we used vaccinia virus recombinants expressing mouse inducible NO-synthase, iNOS, or human bcl-2 genes. Expression of iNOS in HeLa G cells induces apoptosis which can be prevented by co-expression of bcl-2 or by addition of reduced glutathione or N-acetylcysteine. We demonstrate that this NO-induced apoptosis proceeds through the activation of interleukin-1 beta-converting enzyme-like proteases and cleavage of the poly(ADP-ribose) polymerase, an effect which is also prevented by Bcl-2.

Acetylcysteine↗

PubMed1997

Sartorius myoplasty for infected vascular grafts in the groin. Safe, durable, and effective.

OBJECTIVE: To review the safety, durability, and efficacy of sartorius myoplasty in the treatment of localized vascular prosthetic graft infection in the groin. DESIGN: Case series. SETTING: University teaching hospitals. PATIENTS: Fourteen patients with 15 exposed, eroded, or overtly infected prosthetic vascular grafts in the groin, treated during 7 years. INTERVENTIONS: Groin exploration for delineation of the extent of vascular graft infection, followed by extensive perigraft debridement, then dissection and rotation of the ipsilateral sartorius muscle to cover the involved graft. MAIN OUTCOME MEASURES: Healing of groin wound with preservation of vascular graft function, limb salvage, length of hospital stay, impact of specific wound bacteria, and evidence of long-term hip dysfunction. RESULTS: During a mean hospital stay of 8.7 days, sartorius myoplasty was accomplished with 20% morbidity. Hip flexor function was initially impaired in all 14 patients, but functional deficit was negligible at late assessment. During mean follow-up of 36 months, all wounds were healed, and all limbs were salvaged. Two late deaths occurred, and 2 limbs were ultimately amputated due to progressive loss of vascular outflow. CONCLUSION: Sartorius myoplasty is a simple, safe, durable, and effective technique for preservation of locally infected or exposed vascular grafts in the groin.

Adult↗

PubMed1997

Antenatal thalamic lesions in the newborn: two anatomoclinical cases.

We report two cases of antenatal bilateral thalamic lesions constituted by neuronal loss, gliosis and mineralized glial or neuronal cells. No etiology could be found. Neuroradiological findings were poorly correlated with histological changes. These cases are compared with the few previously reported cases of the same condition. We strongly recommend extensive etiological investigation as recurrence occurred in one family.

Brain↗

PubMed1997

[Idiopathic peri-cerebral enlargement in infants: simple anatomical variant or hemorrhagic risk factor?].

BACKGROUND: Idiopathic subarachnoid space enlargement (ISSE) is usually regarded as a benign lesion. CASE REPORTS: Two infants, 6 and 8 months old respectively, were hospitalized for neurological disorders revealing subdural hematoma. The first one was drowsy after an apparent life threatening event. The CT scan showed a recent subdural hematoma with ISSE. The outcome was spontaneously uneventful. The second patient presented a febrile hemiconvulsion preceding a status epilepticus. The diagnosis of empyema complicating subdural hematoma with ISSE was done on MRI. Recovery occurred after a 3 week course of parenteral antibiotics and 1 year of antiepileptic treatment. In these two cases, there was no history of head injury and the retrospective study of cranial perimeter growth curves showed acceleration before the acute event. CONCLUSION: The reputation of benignity is not usurped regarding the ISSE. Nevertheless, it must be recognized as a factor furthering emergence of subdural hematoma, even in absence of injury context.

Female↗

PubMed1997

Analysis of cDNAs encoding Drosophila melanogaster myosin light chain kinase.

Myosin light chain kinase regulates the activity of myosin by phosphorylating the myosin regulatory light chain. Here we describe the cloning and characterization of cDNAs encoding Drosophila melanogaster myosin light chain kinase. We amplified a fragment of the Drosophila mlck gene using degenerate primers homologous to a highly conserved region in myosin light chain kinase proteins of vertebrate species. We used the gene fragment to isolate corresponding Drosophila mlck cDNAs. The deduced protein sequence of the cDNAs shows high homology to the catalytic and regulatory domains of vertebrate nonmuscle, smooth muscle and skeletal muscle myosin light chain kinase. Protein motifs I and II, which are present in vertebrate nonmuscle and smooth muscle myosin light chain kinase, but not in skeletal muscle myosin light chain kinase, are also present in Drosophila myosin light chain kinase. Transcript and cDNA analysis shows the gene encodes multiple messages and is expressed in nonmuscle and muscle cells, including the adult indirect flight muscle. Genomic Southern analysis and chromosome hybridization suggest mlck is a single copy gene which maps to chromosome band 52D, and is not haplo-insufficient for flight.

Amino Acid Sequence↗