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Biomedical subjects

M Goldstein

Publications and source records attributed to M Goldstein.

At least 109 records · Page 6Linked to original sources

Bilateral retinal vein occlusion associated with 5,10-methylenetetrahydrofolate reductase mutation.

PURPOSE: To report on the occurrence of 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency, known to cause mild to moderate hyperhomocystinemia and increased risk of vascular occlusive disease, in a young patient with bilateral central retinal vein occlusion. METHODS: A 25-year-old man was initially examined with central retinal vein occlusion in the right eye, followed 4 months later by a central retinal vein occlusion in the left eye. Studies for risk factors predisposing to thrombosis were performed. RESULTS: Hematologic studies failed to detect any pathology. However, the patient was found to be homozygous for 677C-T mutation in MTHFR enzyme. CONCLUSION: Central retinal vein occlusion may be associated with a mutation in MTHFR.

5,10-Methylenetetrahydrofolate Reductase (FADH2)↗

Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations.

PURPOSE: We evaluated the penetrance of cystic fibrosis gene mutations for the clinical phenotype of congenital bilateral absence of the vas deferens. MATERIALS AND METHODS: We retrospectively reviewed the fertility status of 244 brothers of 105 men with congenital bilateral absence of the vas deferens. Testing for the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and for haplotype analysis of the intron 8/polythymidine segment was recommended for all men with congenital bilateral absence of the vas deferens. RESULTS: Of 244 brothers of men with congenital bilateral absence of the vas deferens 131 were eligible for assessment of fertility. Of the 131 evaluable brothers only 7 (5%) were found to have congenital bilateral absence of the vas deferens. This prevalence is 5 times lower than that predicted for congenital bilateral absence of the vas deferens (25%) based on the autosomal recessive inheritance pattern seen in classical cystic fibrosis. For couples in which the man has congenital bilateral absence of the vas deferens and the female partner tests negative for standard CFTR gene mutations including 5T analysis, the maximum risk of having a child with congenital bilateral absence of the vas deferens is less than 1.0%. CONCLUSIONS: Our data are consistent with incomplete penetrance for the congenital bilateral absence of the vas deferens phenotype after inheritance of cystic fibrosis gene mutations, even after adjusting for environmental factors and wolffian anomalies. Incomplete penetrance may account for a low prevalence of congenital bilateral absence of the vas deferens in the population and may lower the risk of having a child with congenital bilateral absence of the vas deferens for couples undergoing sperm retrieval and assisted reproductive techniques.

Congenital Abnormalities↗

Testicular sperm extraction with intracytoplasmic sperm injection for nonobstructive azoospermia.

OBJECTIVES: To provide fertility for men with nonobstructive azoospermia. METHODS: A retrospective review of treatment results at a university infertility center was undertaken. Sixteen couples entered an attempted in vitro fertilization (IVF)-intracytoplasmic sperm injection (ICSI) cycle for treatment of nonobstructive azoospermia. Each man was azoospermic, and the male factor diagnosis of nonobstructive azoospermia was made on testis biopsy for 14 men and on clinical grounds for 2 men. Sperm were retrieved by testicular biopsy on the day of oocyte retrieval. Results of testicular examinations, serum follicle-stimulating hormone levels, and testicular histology as well as evaluation of the success rates of sperm retrieval, fertilizations, and pregnancies were made. RESULTS: Sperm were extracted from testis biopsies in 10 of 16 (62%) testicular sperm extraction (TESE) attempts. For cycles in which sperm were retrieved, normal fertilizations were achieved for 51 of 98 (52%) mature oocytes injected with testicular sperm in 10 couples. Biochemical pregnancies were achieved for 6 of 16 (38%) couples, with clinical pregnancies during 5 of 16 (31%) attempts at sperm retrieval, and ongoing pregnancy and subsequent live delivery for 4 of 16 (25%) attempts. CONCLUSIONS; Pretreatment clinical parameters are unable to predict which men with nonobstructive azoospermia will have spermatozoa retrieved by TESE. When sperm are found, clinical pregnancies can occur for half (5/10) of these couples using TESE with ICSI, with ongoing pregnancy and delivery for 4 of 10 (40%). Many men with nonobstructive azoospermia will have retrievable sperm with testis biopsy that are suitable for ICSI; however, 6 of 16 (38%) couples will not have sperm retrieved with TESE and may undergo an unnecessary IVF procedure.

Adult↗

Reduction in testicular temperature after varicocelectomy in infertile men.

OBJECTIVES: To study the effects of varicocelectomy on testicular temperature. METHODS: Testicular skin surface temperature was directly measured with an electronic thermometer calibrated to 0.01 degree C in 119 men before and after microsurgical varicocelectomy and in 45 control patients without varicocele. RESULTS: Testicular temperatures in men with varicocele were elevated preoperatively (right side [R]: 34.00 +/- 0.91 degrees C/left side [L]: 34.37 +/- 0.87 degrees C unilateral; R: 34.07 +/- 0.83 degrees C/L: 34.34 +/- 0.85 degrees C bilateral) relative to control patients (R: 33.04 +/- 2.47 degrees C/L: 32.86 +/- 2.52 degrees C) (P < 0.01). Postoperative temperatures were unchanged in the control patients. Testicular temperatures decreased after both bilateral and unilateral varicocelectomy (R: 33.03 +/- 0.85 degrees C/L: 32.84 +/- 1.0 degrees C unilateral; R: 33.27 +/- 1.0 degrees C/L: 33.54 +/- 1.2 degrees C bilateral) to levels nearly identical to those of control patients (P < 0.001). CONCLUSIONS: Testicular temperatures were elevated bilaterally in men with both unilateral and bilateral varicoceles. Both unilateral and bilateral microsurgical varicocelectomy results in a bilateral decrease in testicular temperature. These results support the hypothesis that a defect in testicular thermoregulation contributes to the pathophysiology of varicocele and demonstrate, for the first time in humans, the efficacy of varicocelectomy in restoring normal testicular temperatures.

Adult↗

Improving physician-patient communication in cancer care: outcome of a workshop for oncologists.

BACKGROUND: Physicians caring for cancer patients receive little formal training in difficult communications such as breaking bad news, discussing life support, and addressing patients' emotional concerns. METHODS: The authors conducted a three-day workshop in communication skills for nine oncology attendings and three fellows. Topics for the workshop were selected by participants by a pre-workshop questionnaire. Small groups of four to five participants interviewed simulated patients who role-played scripts based on the selected topics. Sessions on self-awareness and one on planning for continuing the work of the group after the workshop were included. RESULTS: Responses to pretest and posttest questionnaires showed that the workshop increased the participants' confidence in a number of communication areas and also in managing physician burnout. Process issues such as patient death and expectations for cure were also discussed. CONCLUSION: Interactive workshops offer a promising way of teaching communication skills and aspects of the physician-patient relationship to oncologists. Conclusions regarding outcome, however, are preliminary and tentative, and long-term results are uncertain.

Cancer Care Facilities↗

Sociometric risk networks and risk for HIV infection.

OBJECTIVES: This study examined whether networks of drug-injecting and sexual relationships among drug injectors are associated with individual human immunodeficiency virus (HIV) serostatus and with behavioral likelihood of future infection. METHODS: A cross-sectional survey of 767 drug injectors in New York City was performed with chain-referral and linking procedures to measure large-scale (sociometric) risk networks. Graph-theoretic algebraic techniques were used to detect 92 connected components (drug injectors linked to each other directly or through others) and a 105-member 2-core within a large connected component of 230 members. RESULTS: Drug injectors in the 2-core of the large component were more likely than others to be infected with HIV. Seronegative 2-core members engaged in a wide range of high-risk behaviors, including engaging in risk behaviors with infected drug injectors. CONCLUSIONS: Sociometric risk networks seem to be pathways along which HIV travels in drug-injecting peer groups. The cores of large components can be centers of high-risk behaviors and can become pockets of HIV infection. Preventing HIV from reaching the cores of large components may be crucial in preventing widespread HIV epidemics.

Adult↗

Microsurgical reconstruction following failed vasectomy reversal.

PURPOSE: We characterized microsurgical reconstruction treatment outcomes following a failed vasectomy reversal. MATERIALS AND METHODS: We evaluated 64 repeat vasectomy reversals (52 first and 12 second repeat procedures) performed on 57 men. RESULTS: Of men with absolute azoospermia (initial or complete procedure failures) following vasovasostomy 74% required 1 or more vasoepididymostomies, compared to 24% of men with initially patent vasovasostomies (late failures) (p < 0.001). Crude patency and pregnancy rates were 67 and 30%, respectively, for the entire cohort, 93 and 43%, respectively, for men undergoing vasovasostomy on at least 1 side, and 47 and 15%, respectively, for those undergoing vasoepididymostomy only. Stenosis rates for repeat vasovasostomy and vasoepididymostomy were 27 and 18%, respectively. CONCLUSIONS: Complete failure of vasectomy reversal usually is due to unrecognized epididymal obstruction. Late failure following initial patency suggests a compromised anastomosis. Repeat vasectomy reversals result in patency and pregnancy rates somewhat lower than previously reported for unselected vasovasostomy and vasoepididymostomy. Because stenosis rates are greater following reoperation, intraoperative and postoperative sperm cryopreservation is recommended.

Female↗

Varicocele.

Explore the source record for details and available documents.

Adult↗

The impact of the standards for pediatric immunization practices on vaccination coverage levels.

OBJECTIVE: To assess the impact on clinic-specific vaccination coverage of implementing the Standards for Pediatric Immunization Practices. DESIGN: A nonrandomized intervention trial conducted for 1 year. SETTING: Two public health clinics in Albuquerque, NM: 1 intervention site and 1 control site, each serving 1 of 4 city quadrants. PARTICIPANTS: All children enrolled in the 2 city public health clinics. INTERVENTIONS: Implementation of the Standards for Pediatric Immunization Practices. OUTCOME MEASURES: Assessment of up-to-date vaccination coverage levels prior to and at the conclusion of the project. The impact on the proportion of children who dropped out of vaccination services after receiving 1 dose by 3 months of age. RESULTS: At the intervention site, up-to-date coverage at 12 months of age rose from 57.5% to 80.4%, while levels at the control site decreased from 42.1% to 41.9%. Before the intervention, 24% of children at the intervention site who received the first dose of diphtheria and tetanus toxoids and pertussis vaccine (DTP 1) by 3 months of age failed to receive the third dose of DTP (DTP 3) by 12 months of age vs 5% after the intervention. At the control site, the proportion of children who received DTP 1 by 3 months of age, but not DTP 3 by 12 months of age, increased from 39% to 51%. CONCLUSION: Implementation of the Standards for Pediatric Immunization Practices in a public health clinic was associated with important increases in vaccination coverage levels and a reduction in the proportion of children who dropped out of vaccination services.

Child↗

Molecular characterization of the t(2;5) (p23; q35) translocation in anaplastic large cell lymphoma (Ki-1) and Hodgkin's disease.

The precise cellular origin and the pathogenetic mechanism(s) leading to the neoplastic transformation of anaplastic large cell lymphoma (ALCL) and the Reed-Sternberg cell of Hodgkin's disease (HD) remains largely uncertain. Classical cytogenetic analysis has shown a unique translocation involving bands 2p23 and 5q35 bands in a variable number of ALCLs. It has been recently shown that the nucleophosmin/B23 (NPM) gene (5q35) and a novel anaplastic lymphoma kinase (ALK; 2p23) are the fused genes of t(2;5). To investigate the presence and the precise frequency of NPM-ALK gene products among ALCL and HD cases, a large and well-characterized panel of ALCL (n = 49) and HD (n = 72) cases was studied using multiple strategies including reverse transcriptase-polymerase chain reaction (RT-PCR), Southern blot analysis, and immunohistochemistry. Overall, 6 (3 T and 3 null) of 49 ALCL and 3 (2 nodular sclerosis and 1 mixed cellularity) of 72 HD showed the presence of NPM-ALK transcripts by RT-PCR. NPM-ALK gene rearrangements were detected in all RT-PCR, NPM-ALK-positive ALCL by Southern blot analysis. Furthermore, in all the available cases we were able to show the presence of ALK-related protein using a specific polyclonal antiserum recognizing the cytoplasmic domain of ALK by immunohistochemistry. Our data show that NPM-ALK gene transcripts are identified in a subpopulation of ALCL, almost exclusively in T or null cell in origin, and in rare cases of HD. These findings show that some HD may be closely related to ALCL, giving us new insights on the pathogenesis and possibly biologic evolution of HD.

Anaplastic Lymphoma Kinase↗

Glutamatergic regulation of [3H]acetylcholine release in striatal slices of normotensive and spontaneously hypertensive rats.

It has been proposed that central cholinergic neurons may actively participate in blood pressure control and other cardiovascular regulations. The present study was performed to investigate the role of the glutamate receptors in the regulation of acetylcholine release in rat central nervous system in vitro. In the Mg2+-free condition, L-glutamate, an endogenous ligand for glutamate receptors, elicited [3H]acetylcholine release from striatal slices of Sprague-Dawley rats in a dose-related fashion. Glycine, an allosteric agonist for the N-methyl-D-aspartate type of glutamate receptor, significantly potentiated the increase in [3H]acetylcholine release evoked by L-glutamate. A non-competitive N-methyl-D-aspartate receptor antagonist, MK-801, blocked the L-glutamate-induced increase in [3H]acetylcholine release, although MK-801 had no effects on its own. In spontaneously hypertensive rats, the facilitatory effect of L-glutamate on [3H]acetylcholine release was significantly smaller than that in Wistar-Kyoto rats. Moreover, L-glutamate in combination with glycine increased the release of [3H]acetylcholine to a lesser extent in SHR than in WKY rats. These results show that L-glutamate increased acetylcholine release from rat striatum, which was highly dependent on the N-methyl-D-aspartate type of glutamate receptor. Furthermore, the lesser facilitation of acetylcholine release by L-glutamate in spontaneously hypertensive rats suggests that the excitatory amino acid may be, at least in part, involved in the regulation of central cholinergic nerve activity in hypertension.

Acetylcholine↗