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Biomedical subjects

G Grimaldi

Publications and source records attributed to G Grimaldi.

At least 37 records · Page 2Linked to original sources
PubMed1999

Coding region intron/exon organization, alternative splicing, and X-chromosome inactivation of the KRAB/FPB-domain-containing human zinc finger gene ZNF41.

ZNF41 belongs to a cluster of human zinc finger genes residing within a gene-rich region at Xp11.23. ZNF41 encodes a KRAB/FPB (Krüppel-associated/finger preceding box) domain, a potent transcription repression motif present in hundreds of vertebrate zinc finger protein genes, composed of two protein modules, A and B. Three introns, placed at identical positions in paralogous genes, interrupt four exons encoding the ZNF41 N-terminal amino acids, the KRAB/FPB-A and KRAB/FPB-B modules, and the remaining coding region adjoined to the C-terminal zinc finger domain. Since the KRAB/FPB-A and KRAB/FPB-B modules are encoded by dedicated exons in ZNF41 and paralogous genes, exon skipping may lead to differential usage of these modules in alternative gene products. RT-PCR analysis of ZNF41 mRNAs showed that, while skipping of the KRAB/FPB-A and/or KRAB/FPB-B exons was not detected, the use of alternative donor/acceptor sites upstream of the KRAB/FPB-A exon generates multiple ZNF41 transcripts potentially encoding polypeptides differing in the N-terminal region and expressed in different tissues. The expression pattern in cell hybrids containing either active or inactive X chromosomes indicates that ZNF41, which resides within a region of the X chromosome that includes genes that are both subject to and escape X-inactivation, is susceptible to X-chromosome inactivation.

Alternative Splicing↗
PubMed1998

Bilateral non-familial renal cell carcinoma.

BACKGROUND: Bilateral renal cell carcinoma (RCC) exists in hereditary forms (von Hippel-Lindau disease, hereditary papillary renal cell carcinoma, and hereditary clear cell renal carcinoma) associated with various chromosomal abnormalities, and non-hereditary, apparently sporadic forms. The focus of this study is the clinical description of the latter entity. METHODS: Synchronous and asynchronous bilateral RCC were identified from a prospective database of 698 consecutive patients undergoing operation for RCC between July 1989 and December 1997 at Memorial Sloan-Kettering Cancer Center. Non-familial RCC was defined as that occurring in those patients without a family or hereditary history of RCC. Patients' records were evaluated for presentation, surgical approach used, and pathology. Actuarial survival from the date of initial operative treatment until the date of last follow-up or death was determined using the Kaplan-Meier method. Comparisons between groups were made using the Mann-Whitney test. RESULTS: Thirty-three of 698 (4.7%) patients operated for RCC had bilateral disease. Four of the 33 (12.1%) patients had either VHL or documented hereditary RCC, and 29 of 33 (87.9%) had non-familial RCC. Of the 29 patients, histology was conventional (clear cell) in 17 patients, papillary in 5, oncocytoma in 3, and unclassified in 3. One patient had a conventional (clear cell) histology in the first nephrectomy specimen and chromophobe renal cell carcinoma in the second. Partial nephrectomy was used in 100% of patients. Median follow-up time was 52 months. Actuarial 5-year overall survival was 84.5%, and actuarial disease-specific survival was 93.3% at 5 years for the non-familial RCC patients. CONCLUSIONS: Non-familial bilateral RCC patients represent a distinct subpopulation of renal cancer patients with a good overall prognosis. Partial nephrectomy is an integral part of the surgical management. Although most bilateral tumors present synchronously, asynchronous lesions may occur many years after original nephrectomy, thus committing the patient to long-term follow-up.

Adult↗
PubMed1998

Laparoscopic resection of intra-abdominal testicular tumor.

Intra-abdominal testicular neoplasms are difficult to diagnose, with open surgical exploration and excision the traditional mode of therapy. We report a patient with an intra-abdominal seminoma resected laparoscopically. In patients who present without evidence of retroperitoneal adenopathy, laparoscopy can be used for diagnosis, and with minimally invasive surgical techniques, to resect these tumors.

Abdomen↗
PubMed1998

Detection of Leishmania DNA by polymerase chain reaction in scars of treated human patients.

Leishmaniasis is an endemic disease in developing countries. The efficacy of therapy is usually evaluated through clinical parameters. To define the parasitologic cure, 20 patients were biopsied before and 1 month to 8 years after treatment. Paraffin-embedded tissue was used for DNA isolation. All patients had a positive polymerase chain reaction (PCR) result before therapy, except 1, for whom no histopathologic material was available. The causative agent was identified as belonging to the Leishmania (Viannia) subgenus by hybridization. Despite clinical healing and absence of reactivation or development of mucosal lesions, PCR was positive in scars of 16 patients (80%). The results suggest that parasites persist in the skin for many years despite treatment. Depending on specific pathogenetic features of the parasite and the immune status of the host, this phenomenon might result in mucosal lesions. Alternatively, it could have a role in the maintenance of immunologic memory in patients living in areas in which leishmaniasis is endemic.

Animals↗
PubMed1998

Multiple primary malignancies in renal cell carcinoma.

PURPOSE: We determine the incidence and nature of multiple primary malignancies in patients with renal cell carcinoma, and whether these patients have an increased risk of a second primary malignancy. MATERIALS AND METHODS: Between July 1989 and January 1997, 551 patients underwent an operation for renal cell carcinoma. The incidence of other primary malignancies was determined and classified as antecedent, synchronous or subsequent. The observed number of subsequent malignancies after diagnosis of renal cell carcinoma was compared to the expected number based on age, race and sex specific 1990 to 1994 incidence rates from the United States Surveillance, Epidemiology and End Results data using the Poisson test. RESULTS: The number of primary malignancies, including cutaneous malignancies, was at least 1 in 148 patients (26.9%), at least 2 in 34 (6.2%), at least 3 in 6 (1.1%) and 4 in 1 (0.2%). Other malignancies were antecedent in 85 cases (45.0%), synchronous in 74 (39.4%) and subsequent in 30 (16.0%). The most common other primary malignancies were breast, prostate, colorectal and bladder cancer, and non-Hodgkin's lymphoma. Only men with renal cell carcinoma had an increased risk of bladder cancer (standardized incidence ratio 4.3, p = 0.0067). CONCLUSIONS: Breast, prostate, colorectal and bladder cancer as well as non-Hodgkin's lymphoma were the most common other primary malignancies. Men with renal cell carcinoma have an increased risk of subsequent bladder cancer.

Adult↗
PubMed1997

Genetic diversity among Leishmania (Viannia) parasites.

The mode of reproduction in, and population structure of Leishmania (Viannia) parasites were deduced from the nature and extent of genetic variation in the parasites. Forty-seven zymodemes belonging to the Viannia subgenus were analysed by enzyme electrophoresis and the profiles compared with those of two zymodemes belonging to the Leishmania subgenus. The results revealed extensive genetic variation in Viannia. The widespread occurrence of certain zymodemes, the level of heterozygosity and the great similarity observed among the samples are indicative of a clonal population structure. However, the large number of recurrent mutations needed to explain the variation observed and the presence of hybrid parasites indicate that occasional bouts of genetic exchange may occur.

Animals↗
PubMed1996

Leishmania amazonensis: the Asian rhesus macaques (Macaca mulatta) as an experimental model for study of cutaneous leishmaniasis.

As a means of assessing the usefulness of the Rhesus macaque (Macaca mulatta) as a nonhuman primate model for studying cutaneous leishmaniasis, monkeys were infected with Leishmania amazonensis. Variation in the level of susceptibility was found; however, animals inoculated with 10(8) promastigotes provided consistent results as indicated by an earlier onset and/or larger size of lesions. Three monkeys, which had recovered from skin lesions, were challenge-infected using the same parasite strain/dose; although these animals remained susceptible to homologous infection, lesion size was smaller and healed faster than in the initial infection. The immunologic features during infection were assessed. Levels of IgM and IgG antibodies to promastigote antigens rose during active infection and then declined; immunoblot analyses indicated that numerous leishmanial antigens (predominately >30 kDa) were recognized. Delayed type hypersensitivity (DTH) responses and proliferative responses (PBL) developed during active infection and/or rechallenge. Circulating peripheral T cell subpopulations varied throughout the course of infection. Initially (6-8 weeks p.i.), CD4+ T cells appear to predominate; subsequently (15-21 weeks p.i.), an increase in CD8+ T cells was observed. Pathologic analyses indicated that lesions contained amastigotes with a mononuclear infiltrate of macrophages, lymphocytes, and plasma cells, and formation of tuberculoid-type granulomas. As the progression and resolution of leishmanial infection in rhesus macaques are very similar to those observed in humans, this primate model could be employed for elucidating the mechanisms of protective immunity in cutaneous leishmaniasis.

Animals↗
PubMed1995

Discrimination of Leishmania isolates using a limited set of enzymatic loci.

The characterization of more than 200 Leishmania isolates, using 18 enzymatic loci, indicated that only a limited number of enzymes produces diagnostic alleles which are potentially useful in the identification of species or zymodemes. 6-Phospho-gluconate dehydrogenase was the most polymorphic enzyme, containing enzyme, containing the majority of diagnostic alleles, and could be used to separate strains of the subgenus Leishmania from those of Viannia. It appears that just a few enzymatic loci, chosen a priori, are all that are needed in many taxonomic and epidemiological studies of Leishmania.

Alleles↗
PubMed1994

Clustered organization of Krüppel zinc-finger genes at Xp11.23, flanking a translocation breakpoint at OATL1: a physical map with locus assignments for ZNF21, ZNF41, ZNF81, and ELK1.

The ZNF21, ZNF41, and ZNF81 genes encode Krüppel-type zinc-finger proteins (ZFPs) and have previously been mapped to chromosome Xp. Published data describing the clustering of ZFP genes on human autosomes led us to investigate the organization of ZNF21, ZNF41, and ZNF81 on the X chromosome. Rodent-human hybrid analysis sublocalized all three genes to Xp22.11-p11.23. ZNF21, ZNF41, and ZNF81 were then shown to segregate within a series of YACs (95 to 730 kb) containing known markers at Xp11.23, such that these YACs could be assembled into a contig spanning approximately 1.5 Mb of DNA. Southern analysis of intact YACs and YAC DNAs cut with rare-cutter restriction enzymes enabled us to establish the spatial organization of the ZFP gene cluster, the OATL1 pseudogene, the recurrent t(X;18) chromosome translocation breakpoint in synovial sarcoma, and the previously described cluster of ARAF1, SYN1, TIMP, and PFC genes. We have assigned the ETS-related gene ELK1 to a locus tightly linked to the PFC gene; the entire cluster of five genes is contained within a distance of 120 kb. ZNF41 maps to a 440-kb YAC spanning this region, while a more proximal cluster comprising the ZNF21 and ZNF81 genes lies 150 kb distal to the chromosome breakpoint associated with synovial sarcoma.

Base Sequence↗
PubMed1994

A general classification of New World Leishmania using numerical zymotaxonomy.

More than 250 strains of Leishmania isolated from different localities and hosts in the New World were analyzed by enzyme electrophoresis, and their electromorphic profiles were compared with 19 reference strains representing most of the described species of this parasite. The 18 enzymic loci analyzed were very polymorphic, and the strains were classified into 44 zymodemes, each grouping strains with the same enzyme profiles. Each zymodeme was considered as an elementary taxon and the phenetic and phylogenetic relationships were determined by agglomerative hierarchical, ordination, and cladistic techniques. The different classification methods produced very similar results. The 44 zymodemes could be clustered into two groups, corresponding to the subgenera Leishmania and Viannia, by the numerical methods. The subgenus Viannia was shown to be monophyletic and could be further divided into species complexes representing L. braziliensis, L. naiffi, and L. guyanensis/L. panamensis/L. shawi, as well as some isolated taxa including L. lainsoni. The subgenus Leishmania, on the other hand, was polyphyletic, with New World isolates related to L. major clustered separately from the L. mexicana species complex. Most of the other zymodemes in this group represented independent taxa. The results confirm Viannia as a valid taxon but suggest that the status of the subgenus Leishmania should be further investigated. Leishmania braziliensis and L. naiffi were shown to be the most polymorphic species, while L. guyanensis, in spite of being the most common species found in this study, was remarkably homogeneous. The only variants were found south of the Amazon river. North of this river, the species was monomorphic.

Animals↗
PubMed1994

[Lung infections in children. IV. Pneumonia due to Chlamydia pneumoniae].

Chlamydia pneumoniae is the third strain of Chlamydia and transmission is presumed to be by droplet spread from symptomatic patients. The authors show a literature scientific review on subject-matter emphasizing several sporadic and epidemic case of illness in every age, first months excepted. The described cases are few and therefore clinical characteristics are shadowy. Certain clinical features are suggesting of severe pneumonia with fever and pharyngitis without exudate. In the childhood and in the adolescence the clinical evolution is favourable. Tetracyclines or erythromycin is recommended for therapy.

Age Factors↗
PubMed1994

[Effect of the chronic treatment with L-acetylcarnitine in Down's syndrome].

Neuropsychologic tests were performed in subjects with Down syndrome in order to assess the effect of a 90-day treatment with L-acetyl-carnitine (LAC). Findings were evaluated statistically (Wilcoxon test) and compared to three further groups of subjects: untreated Down syndrome, mental deficiency due to other cases treated and not treated with LAC (Mann-Whitney U-test). Treated Down syndrome patients showed statistically significant improvements of visual memory and attention both in absolute terms and in comparison with the other groups. No improvement was found in mentally deficient non-Down subjects, so that the favourable effect of LAC appears to be specific for Down patients. In view of the analogies of the pathology and neurochemistry between Down syndrome and Alzheimer degenerative deficiency (deficit of cholinergic transmission) it is suggested that the action of LAC in these pathologies is related to its direct and indirect cholinomimetic effect.

Acetylcarnitine↗
PubMed1993

A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression.

We report the partial characterization of a novel putative zinc finger gene of the Krüppel-type (ZNF81), isolated from an X Chromosome (Chr) specific library. The pattern of segregation in human-hamster somatic cell hybrids of sequences homologous to the ZNF81 finger domain has established that it resides within the Xp22.1-Xp11 region. ZNF81 represents yet another example, together with ZFX, ZNF41, and ZNF21, of members of the zinc finger gene family residing within the short arm of the human X Chr. Sequence analysis showed that ZNF81 may encode a polypeptide(s) containing tandem arrays of 12 canonical C2H2 zinc fingers of the Krüppel-type at the C-terminus. Northern analysis indicated that probes from the ZNF81 finger domain hybridize to polyadenylated transcripts present in several cell lines, a result that supports the hypothesis that it is an expressed, functional member of this multigene family.

Amino Acid Sequence↗
PubMed1993

Leishmaniases of the New World: current concepts and implications for future research.

Recent epidemiologic studies indicate that leishmaniasis in the Americas is far more abundant and of greater public health importance than was previously recognized. The disease in the New World is caused by a number of different parasite species that are capable of producing a wide variety of clinical manifestations. The outcome of leishmanial infection in humans is largely dependent on the immune responsiveness of the host and the virulence of the infecting parasite strain. This article reviews current concepts of the clinical forms, immunology, pathology, laboratory diagnosis, and treatment of the disease as well as aspects of its epidemiology and control. Recommendations for future research on the disease and its control are made.

Animals↗
PubMed1993

[Growth, somatomedin and nutrition].

The skeletal growth-promoting action of growth hormone appear to be mediated by circulating somatomedins or insulin-like growth factor(s) (IGF), which act directly to promote the proliferation of growing cartilage. The actions of IGF(s) include also insulin-like activity in extraskeletal tissues and mitogenic activity. Serum concentrations of IGF(s) were found to be dependent on hormonal levels and nutritional status and are reduced by malnutrition or dietary restrictions. The actions of somatomedins may be modulated at the tissue level by somatomedins inhibitor, factor that may act to limit growth in conditions of hormonal and/or nutrition deficiency. Plasma concentration of somatomedins are a good marker of acute directional change in nitrogen balance and dietary energy and protein appears to be particularly important for both generation of somatomedins, and their action on growing cartilage. Measurement of somatomedin concentration shows promise as a means for monitoring the response of malnourished children and rats to nutrition repletion.

Adolescent↗
PubMed1992

Pregnancies following implantation of an artificial fallopian tube in rabbits.

The first cases of pregnancies obtained in vivo in animals after implantation of a Teflon artificial fallopian tube model are presented. The Teflon prosthesis was implanted into the uterine cornua of rabbits and fixed subcutaneously in the abdominal wall. Five to eight blastocysts obtained from donor rabbits were transferred through the tubing into each recipient animal's uterus 2 to 14 days after placement of the device. On posttransfer day 10, normally developed pregnancies were visible and confirmed histologically in 4 of 7 animals.

Animals↗