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Biomedical subjects

J A Rodriguez

Publications and source records attributed to J A Rodriguez.

At least 73 records · Page 4Linked to original sources
PubMed1998

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Ninety patients with tuberous-sclerosis complex (TSC) were tested for subtle mutations in the TSC2 gene, by means of single-strand conformational analysis (SSCA) of genomic DNA. Patients included 56 sporadic cases and 34 familial probands. For all patients, SSCA was performed for each of the 41 exons of the TSC2 gene. We identified 32 SSCA changes, 22 disease-causing mutations, and 10 polymorphic variants. Interestingly, we detected mutations at a much higher frequency in the sporadic cases (32%) than in the multiplex families (9%). Among the eight families for which linkage to the TSC2 region had been determined, only one mutation was found. Mutations were distributed equally across the gene; they included 5 deletions, 3 insertions, 10 missense mutations, 2 nonsense mutations, and 2 tandem duplications. We did not detect an increase in mutations either in the GTPase-activating protein (GAP)-related domains of TSC2 or in the activating domains that have been identified in rat tuberin. We did not detect any mutations in the exons (25 and 31) that are spliced out in the isoforms. There was no evidence for correspondence between variability of phenotype and type of mutation (missense versus early termination). Diagnostic testing will be difficult because of the genetic heterogeneity of TSC (which has at least two causative genes: TSC1 and TSC2), the large size of the TSC2 gene, and the variety of mutations. More than half of the mutations that we identified (missense, small in-frame deletion, and tandem duplication) are not amenable to the mutation-detection methods, such as protein-truncation testing, that are commonly employed for genes that encode proteins with tumor-suppressor function.

Adolescent↗
PubMed1998

Low incidence of microsatellite instability in patients with cervical carcinomas.

Alterations in microsatellite sequences have been reported in a variety of human cancers. Microsatellite instability is thought to reflect the inactivation of genes involved in DNA mismatch repair (MMR), which could predispose to the accumulation of further genetic errors in affected cells. Genomic instability in human cancers might also result from the inactivation of cell cycle controls such as the p53-dependent G1 checkpoint that prevents cell replication in response to DNA damage. High-risk human papillomavirus (HPV) is thought to contribute to the development of HPV-associated cancers, including cervical carcinoma, through the interaction of the E6 and E7 viral oncoproteins with two major cell cycle regulatory proteins, namely p53 and the retinoblastoma gene product (pRb). Although the high-risk HPV is prevalent in cervical carcinomas, viral DNA is not detected in a minor proportion of the cases. The HPV infection is insufficient for the development of cervical cancer, which indicates that additional genetic events are involved in the process. This study reports the potential role of MMR gene defects (in addition to or independent of HPV infection) in patients with cervical carcinogenesis. Microsatellite instability and HPV status were analyzed in a series of 54 patients with cervical carcinomas and in two associated cell lines. Microsatellite alterations were examined at 10 loci located in different chromosomes by using semiautomated fluorescent DNA technology and polymerase chain reaction. The HPV types were detected by a general primer polymerase chain reaction method. The results indicate that microsatellite instability is very infrequent in cervical carcinoma and occurs independently of HPV status.

Adenocarcinoma↗
PubMed1998

Immunohistochemical expression of mdm2 and p21WAF1 in invasive cervical cancer: correlation with p53 protein and high risk HPV infection.

AIM: To investigate the immunocytochemical staining pattern of mdm2 and p21WAF1 proteins in invasive cervical cancer and to determine its relation with the expression of p53 and with the high risk HPV infection. METHODS: Immunocytochemistry for p53, mdm2, and p21WAF1 was performed in 31 paraffin embedded sections of invasive cervical cancer. The results were assessed by image analysis, evaluating for each protein the optical density of the immunostained area, scored as percentage of the total nuclear area. The presence of high risk human papillomavirus (HPV) infection was detected by using the polymerase chain reaction. RESULTS: Immunostaining for both mdm2 and p21WAF1 was correlated with p53 expression; however, the correlation between p53 and mdm2 (R = 0.49; p < 0.01) was more significant than between p53 and p21WAF1 (R = 0.31; p < 0.05); the less stringent correlation between p53 and p21WAF1 might reflect the p53 independent mechanisms of p21WAF1 induction. Similar average levels of p53, mdm2, and p21WAF1 immunostaining were found in the presence or absence of high risk HPV-DNA, without significant differences between the two groups. CONCLUSIONS: These data suggest that mdm2 and p21WAF1 proteins are expressed in invasive cervical cancer and that their immunocytochemical staining pattern is not abrogated by the presence of high risk HPV genomic sequences.

Carcinoma, Squamous Cell↗
PubMed1998

Hypothalamic-pituitary-adrenal axis function and prolactin secretion in systemic lupus erythematosus.

The objective was to study the response of cortisol and of prolactin (PRL) to specific stimuli in systemic lupus erythematosus (SLE). We measured the response of cortisol to insulin-induced hypoglycemia and of PRL to thyrotropin releasing hormone (TRH) in seven patients with active untreated SLE and in ten paired control subjects. All were women with regular menstrual cycles. With the exception of two patients, they had never received corticosteroids before the study. The basal serum levels of cortisol (12.5+/-2.4 microg/dl) and PRL (10.7+/-1.0 ng/ml) in the SLE group were not significantly different from those of the control group (12.3+/-1.1 microg/dl and 13.7+/-2.4 ng/ml, respectively). The cortisol response after hypoglycemia was significantly lower in SLE patients compared to the control group at 45 min (P=0.01), at 60 min (P = 0.009), and at 90 min (P = 0.001). The integrated cortisol response to hypoglycemia expressed as area under the response curve (AUC) did not differ significantly in either group (1447+/-187 vs 1828+/-84, P = 0.06). Although the peak of PRL after TRH did not differ significantly in both groups (68.0+/-7.4 ng/ml in SLE vs 66.3+/-77 ng/ml in controls) and the AUC of PRL response after TRH was comparable in both groups (4672+/-537 vs 4128+/-541, P = 0.32), the interval-specific 'delta' response was significantly higher in SLE than the control group at 0-60 min (P=0.02) and 0-90 min (P = 0.01) after TRH injection. These findings suggest that active SLE is associated with some degree of dysfunction of the hypothalamic-pituitary-glucocorticoid axis and PRL secretion.

Adult↗
PubMed1998

Incisional cellulitis after total hip replacement.

We report 16 cases of erythematous eruption on the skin within the flaps of the surgical incision after primary total hip replacement over an eight-year period. The symptoms began within nine months of operation in 13 hips, and two to three years after in three. Four patients had recurrent episodes. All were treated with antibiotics (15 intravenous, one oral) with complete resolution of the eruption within one to six days. The mean follow-up after the last episode of cellulitis was 27 months (14 to 76). There were no cases of periprosthetic sepsis or other sequelae.

Adult↗
PubMed1998

K-12 enrollment forecasting: merging methods and judgment.

"This article describes an enrollment forecasting process in which technical experts and local community stakeholders [in Oregon] worked together to produce data that were cost-efficient and yet accurate enough to serve as the basis for sound decisions. The large school district that employed this process gained valuable insights to guide its attendance zone and facilities planning decisions, and also created a group of key communicators to ensure community understanding and support."

Americas↗
PubMed1997

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of benign tumor formation, hamartomata, and hamartias. TSC has been shown to be genetically heterogeneous, with one causative gene mapping to chromosome 9q (denoted TSC1) and at least one other gene on chromosome 16p (denoted TSC2). The TSC2 gene was recently cloned. We have tested 88 TSC probands with the TSC2 cDNA by Southern blotting searching for gross deletions/rearrangements/insertions. We detected two deletions and a rare intragenic polymorphic variant. This is a similar rate of mutation detection (2/88; 2.3%) to that in the original report (10/260/; 3.8%). The rare polymorphic variant was initially detected in the proband of a chromosome 9-linked multiplex TSC family. The polymorphism segregated with previously tested markers on chromosome 16 independently of the disease gene, verifying that the variation was unrelated to TSC status. We have also begun searching for subtle mutations by SSCA and direct sequencing. After screening three exons, we found two intragenic polymorphic variants. Both polymorphisms are common, making them useful for linkage studies in known affected families.

Blotting, Southern↗
PubMed1997

Functional leg-length inequality following total hip arthroplasty.

A consecutive series of 100 patients undergoing primary total hip arthroplasty were assessed for functional leg-length inequality (FLLI). In addition, the medical records of all patients treated for FLLI by the senior author (C.S.R.) in the past 15 years was reviewed. A questionnaire was distributed to the members of the Hip Society specifically to query the prevalence, etiology, and management of FLLI. Fourteen percent of patients were noted to have pelvic obliquity and FLLI.1 month after surgery. All had resolution of the symptoms by 6 months after surgery. Nine patients have been identified over the past 15 years with persistent FLLI. Among the causes suggested by respondents to the questionnaire are tightness of periarticular soft tissues with resultant pelvic obliquity and degenerative conditions of the spine with contracture. Methods of treatment and prevention are discussed.

Aged↗
PubMed1997

Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).

Group specific component (Gc) is an abundant plasma protein whose functional role is not clearly established. Gc protein is synthesised in the liver and is known to bind vitamin D, vitamin D metabolites, and G actin; Gc protein is also implicated in macrophage activation. Several polymorphic electrophoretic variants of Gc protein are found in all human populations; the most common alleles are Gc-1f, Gc-1s, and Gc-2. In previous studies, Gc allele frequencies, determined using isoelectric focusing or immunofixation or both, were significantly different in patients with tuberous sclerosis complex (TSC) from matched controls, with an excess of Gc-2 in patients. Linkage association between Gc and TSC is unlikely since the Gc locus maps to chromosome 4q12, whereas the two common forms of TSC map to 9q34 and 16p13.1, respectively. However, a direct cause and effect relationship between Gc protein and TSC symptoms is possible. To investigate further the relationship between the Gc locus and TSC, two Gc restriction site polymorphisms, HaeIII and StyI, were typed in 43 unrelated white subjects with TSC. The frequencies of the restriction site polymorphisms in the TSC patients did not differ from those in control populations. Therefore a direct association between Gc type and TSC is unlikely. The previously reported association was either spurious or the result of typing errors in plasma from subjects with underlying abnormalities in plasma proteins.

Base Sequence↗
PubMed1997

The press-fit condylar modular total knee system. Four-to-six-year results with a posterior-cruciate-substituting design.

One hundred and eighteen patients who had had 150 consecutive primary total knee replacements (sixteen bilateral procedures) between February 1988 and February 1990, with insertion of the press-fit condylar modular total knee system with cement, were enrolled in a prospective study. Ninety-six patients (125 knees) were followed for an adequate interval (mean, 4.8 years; range, 3.8 to 6.2 years). Thirteen patients (fifteen knees) died, and nine patients (ten knees) were lost to follow-up. The mean age of the patients at the time of the index arthroplasty was seventy years (range, twenty-nine to eighty-five years). The patients were evaluated clinically and radiographically, according to the scoring system of the Knee Society, and the results on a self-administered questionnaire were used to evaluate pain, function, satisfaction, and patellofemoral symptoms. A Kaplan-Meier survivorship analysis was performed with a revision operation as the end point. The mean functional and clinical scores, according to the system of the Knee Society, were 78 and 93 points, respectively, at the most recent follow-up examination. The result was excellent for 103 knees, good for thirteen, fair for three, and poor for six. Three revision operations were necessary: two because of infection and one because of instability. The over-all rate of patellofemoral symptoms was 8 per cent (ten knees). Three knees had tibiofemoral instability; subsequent modification of the design of the tibial cam decreased the prevalence of this problem. Non-progressive radiolucent lines were present at the cement-bone interface in 39 per cent (thirty-nine) of the ninety-nine knees that had complete radiographic follow-up. No prosthesis had loosened by the time of the most recent follow-up examination. The rate of survival of the implant was 97 per cent at six years, and the standard error of the mean was 1.6 per cent. In the present series, total knee arthroplasties with the press-fit condylar modular knee system resulted in excellent relief of pain, an excellent range of motion, and restoration of function. They were also associated with a low prevalence of patellofemoral problems.

Adult↗
PubMed1996

Cloning of a novel neuronal nitric oxide synthase expressed in penis and lower urinary tract.

The neuronal nitric oxide synthase (nNOS) is the main NOS isoform in the urogenital tract catalyzing the synthesis of nitric oxide, the mediator of penile erection and presumably an important factor in the control of urinary voiding. We have cloned from the rat penile corpora cavernosa a cDNA coding for a novel nNOS differing from the cerebellar nNOS by the presence of a 102 nucleotides stretch and other features. This new species is the only nNOS mRNA expressed in the rat penis, urethra, prostate, and skeletal muscle, coexists with the cerebellar nNOS in the pelvic plexus and bladder, and is detectable in the cerebellum. The novel insert is present in human penile RNA and is transcribed from intron 16. The features and distribution of the penile nNOS suggest that it is may be regulated differentially from the cerebellar nNOS.

Amino Acid Sequence↗
PubMed1996

Re-expression by Candida albicans germ tubes of antigens lost during subculture of blastospores.

The effect of germ tube induction on the antigenic variability in C.albicans was studied in strains from blood cultures (Group I) and superficial candidiasis (Group II). When compared by immunoblotting with a rabbit antiserum, antigenic extracts from Group I strains grown as blastospores showed a higher reactivity than that of Group II strains. Major bands in Group I strains (45-47, 33, 30 kDa) were continuously expressed through the subcultures in vitro but, with the exception of the 45 kDa band, the reactivity of all of them decreased or disappeared after the tenth subculture in Group II strains. The induction of the germ tubes produced the re-expression of the antigens lost during subculture in the yeast form, the effect being very clear in Group II strains. The re-expression by C. albicans germ tubes of antigens lost during subculture of blastospores in vitro and the higher reactivity shown by Group I strains grown in mycelial phase should be taken into consideration when a test to detect anti-C. albicans antibodies is to be developed.

Antigenic Variation↗
PubMed1996

Foster parents' early adaptation to the placement of a child with developmental disabilities in their home.

Eight foster parents of children with developmental disabilities (DD) were interviewed about their early adaptation to placement of the child in their homes. Analysis using a grounded theory methodology showed important adaptations in the physiological, role function, interdependence, and self-concept modes of adaptation. Parents described less attention to their own physical health, dominance of the parenting role over all other roles, decreased social interactions, and a sense of personal satisfaction in response to placement of a child with DD in their homes. Implications for nursing practice are included.

Adaptation, Psychological↗
PubMed1996

Long-term results of total knee arthroplasty in class 3 and 4 rheumatoid arthritis.

One hundred four total knee arthroplasties in 67 patients with class 3 and 4 rheumatoid arthritis were reviewed clinically and radiographically at an average of 12.7 years. The Hospital for Special Surgery knee scores were good to excellent in 84 knees (81%). Seventeen knees (16%) were rated as fair, and three knees (3%) as poor. The average range of motion at follow-up examination was 95 degrees. Six knees failed due to delayed sepsis (4.1%), and two failed due to aseptic loosening. At a follow-up period of 15 years, the survivorship analysis suggests a 91% probability of the arthroplasty remaining functional in situ. Cemented total condylar knee arthroplasties in severe rheumatoid arthritis provide durable pain relief and restoration of function.

Adult↗
PubMed1996

Supracondylar femoral fracture above a PFC posterior cruciate-substituting total knee arthroplasty treated with supracondylar nailing. A unique technical problem.

Supracondylar fracture above a total knee arthroplasty with a posterior cruciate-substituting design presents a challenging problem to the orthopaedic surgeon. The standard treatment using a intramedullary rod is made difficult by the design of the PFC cruciate-substituting total knee arthroplasty (Johnson & Johnson Orthopaedics, Raynham, MA), which prevents entry of a standard supracondylar nail to the medullary canal of the femur. A technique for using an interlocking intramedullary rod to treat a supracondylar fracture above a posterior cruciate-substituting total knee arthroplasty is described. A case is presented illustrating this technique.

Bone Nails↗
PubMed1995

Permanent alteration of muscarinic acetylcholine receptor binding in rat striatum after circling training during development.

We evaluated the effect of circling training (CT) in the expression of muscarinic acetylcholine receptor (mAchR) in developing rat striatum. For this, male and female rats were subjected to CT at 20, 30, 40 and 60 days of age during 7 days. Animals trained at 30 days but not at other ages showed an average decreased binding to mAchR of 33% in males and 24% in females, representing a significant difference with respect to control non-trained animals (males P < 0.001, females P < 0.005), and showing also a differential response between sex (P < 0.01). mAchR drop was found invariably either 2 months or 1 year after training indicating a long term plastic change due to circling training. Scatchard analysis showed that altered binding represents a variation of the total receptor number instead of its binding affinity, with no significant differences found among Kd (P > 0.1). mAchR variation was correlated with the motor performance accomplished in the test. Regarding total distance run, male rats trained for 3 days (300 meters. run), for 5 days (600 meters) and for 7 days (900 meters) showed a drop of 19, 28 and 33% respectively (r2 = 0.91, P < 0.001), while female changes were of 21, 23 and 24% (r2 = 0.78, P < 0.001). Nevertheless, no correlation with running speed was found (r2 = 0.13 male, r2 = 0.02 female; P > 0.1). In summary, these results demonstrate the presence of a limited sensitivity period during striatum development where mAchR expression may be affected by the activity performed during CT, representing a permanent alteration of the receptor levels.

Age Factors↗
PubMed1995

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family.

Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration, which has X-linked, autosomal recessive and autosomal dominant forms. The disease genes in families with autosomal dominant retinitis pigmentosa (adRP) have been linked to six loci, on 3q, 6p, 7p, 7q, 8q and 19q. In a large American family with late-onset adRP, microsatellite markers were used to test for linkage to the loci on 3q, 6p, 7p, and 8q. Linkage was found to 7q using the marker D7S480. Additional microsatellite markers from 7q were then tested. In total, five markers, D7S480, D7S514, D7S633, D7S650 and D7S677, show statistically significant evidence for linkage in this family, with a maximum two-point lod score of 5.3 at 0% recombination from D7S514. These results confirm an earlier report of linkage to an adRP locus (RP10) in an unrelated family of Spanish origin and indicate that RP10 may be a significant gene for inherited retinal degeneration. In addition, we used recently reported microsatellite markers from 7q to refine the linkage map of the RP10 locus.

Chromosome Mapping↗