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Biomedical subjects

J Garza

Publications and source records attributed to J Garza.

16 recordsLinked to original sources

Survey of genetic screening for oocyte donors.

OBJECTIVE: To describe current screening practices of oocyte donation programs in the Society for Assisted Reproductive Technologies (SART). DESIGN: Descriptive data from a mailed questionnaire. SETTING: Academic medical center. PARTICIPANT(S): In vitro fertilization programs in SART. INTERVENTION(S): Survey mailed to IVF programs in the SART registry. MAIN OUTCOME MEASURE(S): Current practices, opinions, and genetic criteria for oocyte donor selection. RESULT(S): Results from 159 of 229 (69%) eligible oocyte donation programs are described. Most centers (70%) completed fewer than 25 cycles and used both anonymous and directed donors. There was considerable variability in limits on numbers of cycles or births allowed per donor, with many centers having no limits. As well, the use of well-established screening tests for genetic disorders, such as sickle cell anemia and cystic fibrosis, varied considerably. Consultation with a geneticist was possible at most (89%) centers and specifically mentioned by some centers as a means to help make decisions. CONCLUSION(S): Most programs follow recommendations made by the American Society of Reproductive Medicine (ASRM) for screening of gamete donors, but a significant percentage does not use well-established testing. The widespread availability of genetic consultation should promote responsible screening practices.

Female↗

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate short stature. However, the propositus and the affected relatives in the second family were only short compared to unaffected relatives. The hypertension was medically responsive in all cases. The propositus in the second family had poor compliance and a striking generalized vasculopathy. All patients were of normal intelligence and had a normal facial appearance. The brachydactyly-short stature-hypertension syndrome was first reported by Bilginturan et al. [1973] in a Turkish family and the families reported by us are Caucasian and Hispanic. The gene causing this condition in the original Turkish family was recently mapped to 12p. Our report expands our existing knowledge and the ethnic diversity of this syndrome.

Adult↗

Maternal serum analyte levels in pregnancies with fetal Down syndrome resulting from translocations.

OBJECTIVE: Our purpose was to determine whether pregnancies affected by fetal Down syndrome resulting from Robertsonian translocations are associated with second-trimester maternal serum analyte levels different from those resulting from fetal trisomy 21. STUDY DESIGN: Pregnancies with Down syndrome caused by Robertsonian translocations were identified through the cytogenetics laboratories at the participating institutions. Those with maternal serum screening values between 15 and 20 weeks were evaluated. RESULTS: Eleven cases of fetal Down syndrome caused by Robertsonian translocations were identified. The median alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin levels were 0.68, 0.67, and 2.83 multiples of the median, respectively. These analyte levels are similar to those for fetal trisomy 21. CONCLUSIONS: These data suggest that Down syndrome resulting from either Robertsonian translocations or trisomy 21 will be detected in a similar percentage of cases because the second-trimester maternal serum analyte levels are similar.

Adult↗

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.

We reevaluated a family previously described as having nonspecific X-linked mental retardation (XLMR) by Snyder and Robinson [1969: Clin Pediatr 8:669-674] (MIM 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild-to-moderate mental retardation, 3 carrier females, and 8 normal males. In contrast to the normal appearance and minimal clinical findings reported 22 years ago, affected males were found to have a characteristic set of clinical findings. These developed gradually over the first 2 decades, and included thin body build with diminished muscle mass, osteoporosis and kyphoscoliosis, slight facial asymmetry with a prominent lower lip, nasal speech, high narrow or cleft plate, and long great toes. Carrier females were clinically normal. Multipoint linkage analysis indicated linkage to markers distal to the 3' end of DMD (DXS41 and DXS989), with a maximal lod score of 4.7. On the basis of these findings, this entity is redefined as XLMR syndrome.

Adult↗

Distribution of lymphoid nodules, aberrant crypt foci and tumours in the colon of carcinogen-treated rats.

Sprague-Dawley rats were given eight weekly subcutaneous injections of 1,2-dimethylhydrazine (DMH) or of vehicle then were sacrificed at 1, 5 or 24 weeks after the last injection of DMH. The locations of pre-existing aggregates of lymphoid nodules (ALNs), the location and multiplicity (size) of aberrant crypt foci (ACF), and the locations of tumours in the colon were determined. A trimodal distribution of pre-existing ALNs along the length of the colon was significantly correlated with the timodal distribution of DMH-induced adenocarcinomas (ACs). A unimodal peak in ACF of all sizes occurred between the sites of two distal ALNs. Thus, the distribution of ACF at 1 or 5 weeks did not correlate with distribution of AC found at 24 weeks. Of the 2640 ACF observed at 1 or at 5 weeks, none were found in the proximal 25% of the colon where ACs eventually occurred. It was concluded that: (1) ALNs play a promotional role in AC formation; (2) the ACs which form in the proximal quarter of the colon seldom if ever form via an ACF precursor; and (3) the location, the number and the size of ACF observed early after DMH exposure did not correlate with the location or predict the incidence of ACs which eventually formed in the colon.

1,2-Dimethylhydrazine↗

Hepatic cirrhosis and hepatitis: MR imaging enhanced with superparamagnetic iron oxide.

Superparamagnetic iron oxide was applied as a reticuloendothelial contrast agent in the diagnosis of cirrhosis and hepatitis in seven patients. Three patients had compensated cirrhosis, and four had active hepatitis. T1- and T2-weighted spin-echo magnetic resonance images were obtained before and 1 hour after the administration of iron oxide. Eight patients without diffuse liver disease served as a control group. Normal liver tissue showed a 75% +/- 9% reduction in signal intensity after the administration of iron oxide, and the liver appeared homogeneously hypointense. Cirrhotic liver tissue showed a smaller response (P less than .05) to iron oxide, with a 52% +/- 13% reduction in liver signal intensity. Inhomogeneous structures could be observed in enhanced images and are thought to represent fibrous bands or regenerating nodules. Liver tissue with active hepatitis showed a markedly reduced response to iron oxide (11% +/- 2%) (P less than .05), and the parenchyma appeared homogeneous. The authors conclude that the uptake of iron oxide particles is inhomogeneously altered in cirrhosis because of structural changes and homogeneously decreased in hepatitis because of functional changes of hepatic parenchyma.

Contrast Media↗

Successful administration of metoclopramide for the treatment of nausea in patients with advanced liver disease. A double-blind controlled trial.

A double-blind comparison of metoclopramide versus placebo was performed on 8 cirrhotic patients with nausea (8 cases) and heartburn (3 of the 8 cases) plus mild portal-systemic encephalopathy. As metoclopramide is a dopamine antagonist and dopamine-inadequate neurotransmission has been implicated in the pathogenesis of hepatic coma, this study was also designed to evaluate the effects of metoclopramide on mental state. The study included basal, placebo, metoclopramide, and final periods; each period lasted for 2 wk. Throughout the study patients received 3 g/day of neomycin and an 1800-cal diet containing 40 g/day of mixed protein. During the placebo and metoclopramide phases patients received either two 10-mg metoclopramide capsules t.i.d. or identical placebo capsules. During the study, biweekly liver function tests and portal-systemic encephalopathy parameters were evaluated. A self-evaluation for the presence of nausea and heartburn was also obtained. To monitor the dopamine-blockade effect of metoclopramide, serum prolactin levels were measured. Metoclopramide significantly suppressed the subjective signs of nausea (7 of 8 cases) and heartburn (all cases). Serum prolactin levels were 22 +/- 21 ng/ml, 30 +/- 31 ng/ml, 110 +/- 57 ng/ml (p less than 0.01), and 18.6 +/- 2 ng/ml during basal, placebo, metoclopramide, and final periods, respectively. In spite of these signs of dopamine blockade, no deterioration in mental state, asterixis, electroencephalograms, blood ammonia levels, or psychometric testings were observed. In addition, no extrapyramidal signs were noticeable during any period of the study. One patient presented transient somnolence at the end of the metoclopramide period. We conclude that dopamine blockade is not associated with the appearance of portal-systemic encephalopathy. Metoclopramide is a safe and effective treatment for nausea and heartburn in patients with advanced liver disease.

Chronic Disease↗

[Extension work and rendering services in the schools of veterinary medicine].

This article reviews the extension work in the schools of veterinary medicine and says that it performs a multiple function: it supports instruction and research, performs intra- and interinstitutional and promotional services, and acts as a link between the academic establishment and the community serves. After citing a variety of recommendations made by international expert groups in veterinary medicine connected mainly with instruction and training programs, the author explains the content of the intra- and extramural services provided by universities and schools through extension programs. In connection with the former, he describes in detail the organization of libraries, audiovisual resources, methodology units, planning, etc. As to extramural services, he gives an equally detailed account of the features and functions of clinics, dispensaries, diagnostic services, experiment stations, and so forth. Finally, the point is made that extension programs should be linked to national development plans, and that they have a series of institutional barriers and negative attitudes to overcome in order to accomplish a true integration of the veterinarian's academic training with the real needs of the community.

Animal Feed↗

In vivo steroid studies in luteoma of pregnancy.

Endocrine studies were performed in 2 cases of luteoma of pregnancy. Even though both luteomas were discovered incidentally at the time of postpartum tubal ligation and cesarean section, they were found to be functionally active, secreting several androgens. Steroid concentrations were measured in the ovarian vein blood draining the luteoma in one patient and in peripheral vein blood in both patients. Peripheral testosterone, androstenedione, and dihydrotestosterone concentrations were increased severalfold higher than the normal controls and were comparable to the concentrations reported previously in virilizing luteomas. Progesterone, 17 alpha-hydroxyprogesterone, and estradiol concentrations were increased as well. The concentrations in the ovarian vein were significantly greater than those in the peripheral vein, which indicates active secretion of these steroids by the luteoma. In spite of the high concentrations of androgens, neither the mothers nor the infants were virilized. Concentrations of androgenic steroids in the cord blood were in the normal range. Determination of steroid concentrations in the serum, taken at intervals post partum, indicated spontaneous regression of the luteomas.

Adult↗

Plasma levels and urinary excretion of orally administered propantheline bromide in man.

After a single oral dose of 30 or 60 mg of propantheline bromide peak plasma levels of the drug were reached within 2 h in six healthy men. Mean peak plasma concentrations were 20.6 and 53.1 ng/ml after 30 mg and 60 mg respectively. The mean apparent absorption and elimination half-lives after 30 mg dose were 0.22 and 1.57 h respectively, and similar half-lives were found at the higher dose level. There was a dose related change in plasma levels and AUCinfinity of the drug, and some 3% to 4% of the administered dose of propantheline bromide was excreted unchanged in urine at each dose level. Comparison of the plasma levels and urinary excretion of the drug with those seen after i.v. administration in an earlier study indicated an apparently low systemic availability of orally administered propantheline bromide. There was tentative evidence of a qualitative relationship between the oral dose administered, plasma concentrations and the effects of propantheline bromide on salivary excretion.

Administration, Oral↗