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Biomedical subjects

A Escalante

Publications and source records attributed to A Escalante.

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

Sex reversal due to Xp disomy by t(X;Y)(p21;q11).

A 20-month-old infant exhibiting psychomotor retardation, dysmorphisms and ambiguous external genitalia was found to have a 46-chromosome karyotype including a normal X chromosome and a marker Y with most of Yq being replaced by an extra Xp21-->pter segment. The paternal karyotype (G and C bands) was 46,XY. The marker Y composition was verified by means of FISH with a chromosome X painting, an alphoid repeat and a DMD probe. Thus, the final diagnosis was 46,X,der(Y)t(X;Y)(p21;q11)de novo.ish der(Y)(wcpX+,DYZ3+,DMD+). The patient's phenotype is consistent with the spectrum documented in 13 patients with similar Xp duplications in whom sex reversal with female or ambiguous genitalia has occurred in spite of an intact Yp or SRY gene. A review of t(X;Y) identifies five distinct exchanges described two or more times: t(X;Y)(p21;q11), t(X;Y)(p22;p11), t(X;Y)(p22;q11-12), t(X;Y) (q22;q12), and t(X;Y)(q28;q12). These translocations probably result from a recombination secondary to DNA homologies within misaligned sex chromosomes in the paternal germline with the derivatives segregating at anaphase I.

Disorders of Sex Development↗
PubMed1999

A comparison of the quality of life of patients with systemic lupus erythematosus with and without endstage renal disease.

OBJECTIVE: To compare health related quality of life between patients with lupus nephritis who progressed to endstage renal disease (ESRD) and patients with systemic lupus erythematosus (SLE) with preserved renal function. METHODS: Patients with SLE undergoing maintenance renal dialysis and SLE patients with preserved renal function completed the Medical Outcomes Study Short Form-36 and social support questionnaires and the Center for Epidemiologic Studies Depression Scale. SLE disease activity and organ damage were measured by the SLE Disease Activity Index and Systemic Lupus International Collaborating Clinics/American College of Rheumatology damage index. RESULTS: We studied 104 patients with SLE: 22 undergoing maintenance renal dialysis and 82 with preserved renal function. Their scores in all 8 of the SF-36 scales were reduced compared to national norms. Patients with ESRD had significantly higher mental health scores (mean +/- standard error 71.3 +/-4.8 vs. 60.7+/-2.5; p = 0.05), but there were no significant differences between the 2 groups in the remaining SF-36 scales. Multivariate models adjusting for demographic, socioeconomic, and clinical characteristics and for symptoms of depression revealed that being on dialysis was associated with higher mental health scores (regression coefficient = 12.97, 95% confidence interval 2.72 to 23.22), but lower physical function [-11.28 (-22.43 to -0.12)] and general health [-10.94 (-21.31 to -0.57)]. CONCLUSION: Patients with lupus nephritis who progress to endstage renal disease have improved mental well being but reduced physical function and general health. Strategies to improve the quality of life of patients with SLE are needed.

Adult↗
PubMed1999

Determinants of shoulder and elbow flexion range: results from the San Antonio Longitudinal Study of Aging.

OBJECTIVE: To gain a knowledge of factors associated with impaired upper extremity range of motion (ROM) in order to understand pathways that lead to disability. METHODS: Shoulder and elbow flexion range was measured in a cohort of 695 community-dwelling subjects aged 65 to 74 years. Associations between subjects' shoulder and elbow flexion ranges and their demographic and anthropometric characteristics, as well as the presence of diabetes mellitus or self-reported physician-diagnosed arthritis, were examined using multivariate regression models. The relationship between shoulder or elbow flexion range and subjects' functional reach was examined to explore the functional significance of ROM in these joints. RESULTS: The flexion range for the 4 joints studied was at least 120 degrees in nearly all subjects (> or = 99% of the subjects for each of the 4 joints). Multivariate models revealed significant associations between male sex, Mexican American ethnic background, the use of oral hypoglycemic drugs or insulin to treat diabetes mellitus, and a lower shoulder flexion range. A lower elbow flexion range was associated with male sex, increasing body mass index, and the use of oral hypoglycemic drugs or insulin. A higher shoulder or elbow flexion range was associated with a lower likelihood of having a short functional reach. CONCLUSIONS: The great majority of community-dwelling elderly have a flexion range of shoulder and elbow joints that can be considered functional. Diabetes mellitus and obesity are two potentially treatable factors associated with reduced flexion range of these two functionally important joints.

Aged↗
PubMed1998

Fas (CD95)-transduced signal preferentially stimulates lupus peripheral T lymphocytes.

Fas (CD95) is a cell surface receptor whose biological function in circulating peripheral T cells is not well understood. To address the question of abnormal T cell sensitivity to Fas stimulation in systemic lupus erythematosus (SLE), we studied Fas-transduced stimulation and apoptosis in peripheral blood T cells from patients with SLE and normal control. Immobilized anti-Fas monoclonal antibodies (mAb) (imCH-11; IgM type) significantly stimulated SLE T cell proliferation compared to T cells from normal donors and patients with rheumatoid arthritis (p < 0.003 and p < 0.005, respectively). The soluble form of CH-11 and other immobilized anti-Fas mAb (UB-2, ZB-4; IgG type) failed to stimulate lupus T cells while immobilized human Fas ligand did. Furthermore, imCH-11 induced IL-2 and IL-6 mRNA expression. However, imCH-11 activation failed to induce expression of the T cell activation surface molecules CD25 and CD69. Addition of exogenous ceramide, a second messenger for Fas-mediated apoptosis signaling, also induced T cell proliferation in SLE and normal controls. Moreover, fumonisin B1, a specific ceramide synthase inhibitor, and caspase inhibitors markedly suppressed imCH-11 induced T cell proliferation, suggesting that the ceramide pathway may be involved in Fas-transduced stimulation signals in SLE T cells. These results show that SLE T cells have an alteration in the Fas signal transduction pathway leading to cell proliferation. This defect may be important in Fas-mediated peripheral immune homeostasis.

Adult↗
PubMed1998

What do self-administered joint counts tell us about patients with rheumatoid arthritis?

OBJECTIVE: This report presents data from two sources showing that a self-administered joint count (SAJC) suitable for use in clinical settings provides information comparable with that of observer-assessed joint counts. METHODS: Patients were tested with a 1-page form containing a 40-joint mannequin on which they could mark their painful or swollen joints. The first sample of 110 patients was used to compare the SAJC with the tender or swollen joint counts (TJC or SJC) performed by a rheumatologist and to a battery of clinical and laboratory measurements. The second sample consisted of 240 rheumatoid arthritis (RA) patients enrolled in a cohort study of RA outcomes, in whom the relationship between the SAJC and health-related quality of life measures was examined. RESULTS: Test-retest reliability of the SAJC was excellent (ri = 0.89), as was its agreement with the observer-assessed TJC (ri = 0.78). The SAJC was significantly correlated (P < or = 0.01) to pain on a 10-point scale (r = 0.33), the McGill Pain Questionnaire (r = 0.27), the pain subscale of the Arthritis Impact Measurement Scales (AIMS) (r = 0.32), the duration of morning stiffness (r = 0.27), and to the AIMS subscales of physical function (r = 0.20), impact (r = 0.31), and global health (r = 0.29). The SAJC was inversely related to formal education (r = -0.32), but did not correlate significantly with the modified Health Assessment Questionnaire, walking velocity, grip strength, or erythrocyte sedimentation rate. The responsiveness of the SAJC was comparable with that of other measures commonly employed to assess RA outcomes. Either the SAJC or the TJC could be included alternatively in multivariate models to explain 7 of the 8 subscales of the Medical Outcomes Study Short Form-36 (SF-36) questionnaire. CONCLUSION: The SAJC is a reliable and responsive measure that agrees highly with the observer-assessed TJC and is significantly associated to the health-related quality of life of patients with RA. Given its low cost and ease of administration, it is suggested that SAJC be included in future studies of RA outcome in routine clinical practice.

Adult↗
PubMed1998

Enzymes involved in carbohydrate metabolism and their role on exopolysaccharide production in Streptococcus thermophilus.

The role of the enzymes uridine-5'-diphospho-(UDP) glucose pyrophosphorylase and UDP galactose 4-epimerase in exopolysaccharide production of Gal- ropy and non-ropy strains of Streptococcus thermophilus in a batch culture was investigated. Growth of the ropy and non-ropy strains was accompanied by total release of the galactose moiety from lactose hydrolysis in modified Bellinker broth with lactose as the only carbon source. This was associated with a greater exopolysaccharide production by the ropy strain. The polymer produced by both strains in cultures with lactose or glucose as carbon sources contained glucose, galactose and rhamnose, indicating that glucose was used as a carbon source for bacterial growth and for exopolysaccharide formation. UDP-glucose pyrophosphorylase activity was associated with polysaccharide production during the first 12 h in a 20 h culture in the ropy strain, but not in the non-ropy strain. UDP-galactose 4-epimerase was not associated with exopolysaccharide synthesis in any strain. The evidence presented suggests that the glucose moiety from lactose hydrolysis is the source of sugar for heteropolysaccharide synthesis, due to a high UDP-glucose pyrophosphorylase activity.

Galactose↗
PubMed1998

Disaggregating pain and its effect on physical functional limitations.

BACKGROUND: Pain is a common impairment that limits the abilities of older persons. The purposes of this article are to: (i) describe the distribution of pain location using the McGill Pain Map (MPM) in a community-based cohort of aged subjects; (ii) investigate whether individual areas of pain could be sensibly grouped into regions of pain; (iii) determine whether intensity, frequency, and location constitute independent dimensions of pain; and (iv) determine whether these three pain dimensions make differential contributions to the presence of self-reported physical functional limitations. METHODS: A total of 833 Mexican American and European American subjects, aged 65-79 years, were enrolled in the San Antonio Longitudinal Study of Aging and were interviewed in their homes between 1992 and 1996. A total of 373 (46%) of the subjects reported having pain in the past week. Physical functional limitations were ascertained using the nine items from the Nagi scale. Three composite scales were created: upper extremity, lower extremity, and total. Pain intensity and frequency were ascertained using the McGill Pain Questionnaire. Pain location was ascertained by using the MPM. RESULTS: Pain was reported in every area of the MPM. Using multiple groups confirmatory factor analysis, the 36 areas were grouped into 7 regions of pain: head, arms, hands and wrists, trunk, back, upper leg, and lower leg. Among persons with pain, pain frequency, intensity, and location were weakly associated with each other. Pain regions were primarily independent of each other, yet weak associations existed between 6 of the 21 pair-wise correlations between regions. Pain regions were differentially associated with individual physical functional limitations. Pain in the upper leg was associated with 8 of the 9 physical tasks. In multivariate analyses, age, gender, and ethnic group accounted for only 2-3% of the variance in physical tasks. In multivariate analyses, age, gender, and ethnic group accounted for only 2-3% of the variance in physical functional limitations. Pain intensity accounted for 5-6% of the variance in the composite scores of functional limitation. Pain frequency accounted for 4-5% of the variance in upper extremity limitations but did not contribute to the modeling of lower extremity limitations. In contrast, pain location accounted for 9-14% of the variance in physical functional limitations. CONCLUSIONS: We tested a method for ascertaining pain location and clearly demonstrated that pain location is an important determinant of self-reported physical functional limitations. The MPM methodology may be used in population-based studies or in clinical samples that focus on specific impairments and seek to control for pain frequency and intensity. Future studies can link specific diseases with the common impairment of pain and tease out the pathways that lead to other impairments (e.g., weakness), functional limitations, and disability.

Aged↗
PubMed1998

Neurological manifestations of antiphospholipid antibody syndrome.

Thrombosis, thrombocytopenia, recurrent fetal loss and a variety of non-thrombotic neurological disorders have all been associated with antiphospholipid antibodies (aPL). Cerebral ischemia associated with aPL is the most common arterial thrombotic manifestation. Depression, cognitive dysfunction, depression and psychosis have all been associated with aPL. The presumed pathophysiologic mechanism underlying these manifestations is thought to be a result of cerebral ischemia in some, but not all cases. Seizures, chorea and transverse myelitis all appear to be associated with aPL. An interaction between aPL and central nervous system cellular elements rather than aPL-associated thrombosis seems to be a more plausible mechanism for these clinical manifestations. Migraine on the other hand, does not appear to be associated with aPL in either lupus or non-lupus populations. Neuroimaging studies show an increased frequency of brain abnormalities in patients with aPL, but none appear to be specific. The best treatment strategy for preventing neurological manifestations of aPL is not fully defined. For thrombotic manifestations, both antiplatelet and anticoagulant therapies have been suggested. In some patients, immunosuppressant therapy has been used. For non-thrombotic manifestations, some combination of immunosuppressant therapy and symptomatic treatment may be warranted.

Adult↗
PubMed1998

Musculoskeletal manifestations, pain, and quality of life in Persian Gulf War veterans referred for rheumatologic evaluation.

OBJECTIVE: Pain in the joints and other areas has been a frequent complaint among veterans of Operation Desert Storm who are experiencing unexplained illness. We characterized the rheumatic manifestations of a group of veterans of the Persian Gulf War who were referred to a rheumatology clinic. METHODS: Consecutive South Texas veterans of the Persian Gulf War who were referred for evaluation of rheumatic manifestations underwent a comprehensive evaluation of their musculoskeletal symptoms, pain, and health related quality of life. RESULTS: Of 928 veterans evaluated in a screening clinic for unexplained symptoms, 145 had rheumatic manifestations (15.6%) and were referred to a rheumatology clinic. The most common diagnosis was fibromyalgia, present in 49 patients (33.8%), followed by various soft tissue problems in 25 (17.2%), nonspecific arthralgias in 14 (9.6%), and clinical or radiographic osteoarthritis in 16 (11.0%). In 39 patients (26.9%), no symptoms were present at the time of the evaluation, a careful musculoskeletal examination and laboratory tests were normal, and no diagnosis was possible. Two patients had Reiter's syndrome. Four had a positive rheumatoid factor and 3 had antinuclear antibodies, but none of these had clinical evidence of rheumatoid arthritis or systemic lupus erythematosus. Pain was present in nearly all patients and was widely distributed, with no body area spared in this group of patients. The most frequent painful areas were the knees in > 65%, the lower back in > 60%, the shoulders in 50%, and the hands and wrists in 35%. Widespread body pain was present in 65.1% of the veterans. Average values of all 8 scales measured by the SF-36 health survey were below the 25th percentile of published national norms, with pain and the number of nonarticular rheumatic symptoms explaining most of the decreased health related quality of life in the veterans we evaluated. CONCLUSION: No specific rheumatic diagnosis is characteristic of Gulf War veterans with unexplained illness referred to a rheumatology clinic. However, pain is common and widespread in these patients, and their health related quality of life is poor. Further research is necessary to determine the cause of the symptoms of veterans of the Gulf War.

Adult↗
PubMed1998

Diagnostic confusion caused by hepatitis C: hemochromatosis presenting as rheumatoid arthritis.

We describe a patient with hemochromatosis and coexistent infection with the hepatitis C virus who was initially thought to have rheumatoid arthritis. His symptoms began at the age of 44 with pain of the hand joints, shoulders, hips, and knees and a positive rheumatoid factor. Four years later, he required replacement of both hips due to severe hip arthritis. Abnormalities in liver function were noted early on, but they were attributed to infection with the hepatitis C virus, detected serologically and by polymerase chain reaction amplification in the blood. The correct diagnosis was delayed until a decision to use methotrexate as treatment for his arthritis led to a liver biopsy, which revealed increased iron deposition consistent with hemochromatosis, confirmed by genetic testing, which revealed that the patient was homozygous for the C282Y mutation of the HLA-H gene.

Adult↗
PubMed1997

Predicting length of stay after hip or knee replacement for rheumatoid arthritis.

OBJECTIVE: To identify predictors of the postoperative length of stay (LOS) after hip or knee replacement for rheumatoid arthritis (RA). METHODS: Demographic and clinical characteristics, medications, and postoperative course were abstracted from medical records of patients with RA who underwent total arthroplasties of the knee (TKA) or hip (THA) at our institution between 1987 and 1991. The relationship between these variables and the postoperative LOS was examined using life tables, linear regression, and multiple regression analyses. RESULTS: During the 5 years of the study, 137 patients with RA underwent 119 TKA and 105 THA. The average LOS was 16.9 +/- 8.7 days after THA and 19.5 +/- 11.4 days after TKA (p = 0.08). Significantly longer LOS was associated with age > or = 55 years, female sex, non-white ethnicity, poor functional status, known positive rheumatoid factor, use of bone cement, and operating room (OR) time longer than 6 hours. In a multivariate regression model, a preoperative Steinbrocker functional class 3 or 4 was associated with an increase in LOS of 3.98 days (95% confidence interval 0.78, 7.18) and 7.14 days (2.59, 11.69), respectively, while a known positive rheumatoid factor predicted an increase in LOS of 2.76 days (0.17, 5.35). Among operative factors, the use of bone cement was associated with a LOS that was longer by 3.50 days (0.80, 6.20), and each hour increase in OR time with a delay in discharge of 1.75 days (1.18, 2.33). Major postoperative wound complications increased LOS by 16.46 days (11.40, 21.52). CONCLUSION: Preoperative functional status is an important determinant of the rate of recovery of functional independence after surgery. Strategies for decreasing LOS after hip or knee replacements include optimization of preoperative functional status, early surgical intervention, and prevention of wound complications.

Aged↗
PubMed1997

Gout presenting as non-union of a patellar fracture.

We describe a 34-year-old man in whom non-union of a patellar fracture led to an unrecognized diagnosis of gout. He presented with a mass in the superolateral quadrant of the patella, which had the radiographic appearance of a non-united fracture. In the operating room, a gouty tophus was found. Although patellar tophi are uncommon, gout should be included in the differential diagnosis of non-united patellar fractures.

Adult↗
PubMed1996

Cross-cultural adaptation of a brief outcome questionnaire for Spanish-speaking arthritis patients.

OBJECTIVE: To cross-culturally adapt a brief self-assessment questionnaire to measure outcome among English- or Spanish-speaking patients with arthritis. METHODS: A questionnaire containing the following items was translated to Spanish: the 8 activities of daily living (ADL) question of the Modified Health Assessment Questionnaire; a question about the duration of morning stiffness; and a 10-point pain scale. Equivalence to the original English, test-retest reliability, and construct, criterion, and discriminant validity were determined on a population of patients with 4 clinical centers. RESULTS: English-Spanish equivalence and test-retest reliability of the questionnaire were almost perfect (intra-class correlation coefficients [ri] > or = 0.90 for each). Construct validity, measured by comparing questionnaire scores with an occupational therapist's evaluation, was also near-perfect in both languages (ri = 0.93 for English and 0.89 for Spanish). Both versions of the questionnaire correlated well with the physician-determined Steinbrocker functional class, as well as with the amount of pain, grip strength, and walking velocity. Patients with systemic lupus erythematosus, rheumatoid arthritis, osteoarthritis, and fibromyalgia differed significantly in their pain:ADL ratios, in both languages. CONCLUSIONS: The items of the Spanish questionnaire that we have adapted are equivalent to the original English versions. This questionnaire is suitable for studying Spanish-speaking subjects with arthritis in the US and elsewhere.

Activities of Daily Living↗
PubMed1996

Abnormality of Oct-1 DNA binding in T cells from Sjögren's syndrome patients.

Primary Sjögren's syndrome (SS) is an autoimmune rheumatic disease characterized by T cell hypoactivity. To understand the diminished T cell response to activation signals, we measured nucleoprotein DNA-binding activities regulating gene expression during T cell activation using the electrophoretic mobility shift assay. Peripheral blood lymphocytes from 9/19 SS patients were found to be defective in their ability to bind an october sequence (Oct-1). This Oct-1-binding phenotype remained stable in culture for up to 3 days prior to activation. This abnormality was not seen in resting T cells nor T cells from patients with systemic lupus erythematosus, rheumatoid arthritis (RA), or SS accompanied by RA. The SS Oct-1 DNA-binding abnormality correlated significantly with an inability of cells to exit the Gzero/G1 cell cycle phase when stimulated in vitro. Importantly, nucleoprotein extracts showing decreased DNA-binding activity had normal amounts of Oct-1 proteins as determined by immunoprecipitation, implying a functional defect in the Oct-1 protein. Moreover, defective DNA binding was corrected by treatment with acid phosphatase.

Adult↗
PubMed1996

Measuring chronic rheumatic pain in Mexican Americans: cross-cultural adaptation of the McGill Pain Questionnaire.

We performed a cross-cultural adaptation of the McGill Pain Questionnaire (MPQ) from English to Spanish for studying Mexican Americans in South Texas. Each of the 78 single-word pain descriptors in the original MPQ was translated into Spanish by a panel of nine bilingual health researchers, preserving the original structure of the questionnaire. The pain-intensity content (PIC) of the words in each language was then rated on a 100 mm visual analog scale by 8 bilingual health care providers and 10 bilingual health-care consumers. The correlation between Spanish and English average PIC ratings was strong (r = 0.85 for providers, r = 0.80 for consumers). The translated Spanish version was compared to the original English in a group of 50 bilingual Mexican-American patients with musculoskeletal pain, who completed the MPQ in both languages. There was no difference in Average Pain Rating Index between the Spanish and English versions (29.8 +/- 14.7 vs 29.1 +/- 15.8, p = 0.55), and agreement between the two language versions was almost perfect (ri = 0.85). Test-retest reliability was measured in two groups of hospitalized patients (25 per group), one composed of monolingual Spanish speakers and the other of monolingual English speakers. Each subject completed the MPQ, the McGill Pain Map, two 10-cm visual analog scales measuring pain now and within the past week, the bodily pain items of the MOS-SF36 survey, and the Modified Health Assessment Questionnaire, on two occasions one day apart. Test-retest reliability of the Spanish and English components of the MPQ was not significantly different and was comparable to that of the other pain and health status instruments. We conclude that the Spanish MPQ is cross-culturally equivalent to the original English and has similar concurrent validity and reliability. This questionnaire is suitable for cross-cultural studies of pain comparing Spanish-speaking Mexican Americans with English-speaking members of the same and other ethnic groups.

Adult↗
PubMed1996

Perioperative management of rheumatoid arthritis. Areas of concern for primary care physicians.

The presence of rheumatoid arthritis can impose increased risks on patients undergoing surgical procedures. Affected patients often have peripheral joint inflammation, temporomandibular joint disease, laryngeal involvement, or cervical spine disease. Preoperative evaluation should also include assessment of cardiovascular disease, pulmonary disorders, and Sjögren's syndrome. Perioperative control of infection and prophylactic use of antibiotics are particularly important. To avoid wound-healing problems, preoperative discontinuation of therapy with aspirin, nonsteroidal anti-inflammatory drugs, and some slow-acting antirheumatic agents may be necessary. Effective management requires a team approach involving the primary care physician, the surgeon, other subspecialists, and allied healthcare personnel. To prevent unnecessary delays once the patient is hospitalized, preoperative assessment should be done primarily on an outpatient basis.

Antirheumatic Agents↗