Say what we mean, mean what we say.
Explore the source record for details and available documents.
Beckwith-Wiedemann Syndrome↗
Biomedical subjects
R A Martin
Publications and source records attributed to R A Martin.
Tibial tuberosity advancement in 65 canine stifles.
The tibial tuberosity advancement (TTA) procedure was developed to treat dogs with cranial cruciate ligament deficient stifles. A retrospective, descriptive study was performed on 57 dogs that underwent unilateral or bilateral TTA. Medical records were reviewed and pre-, postoperative and follow-up radiographs were evaluated for patellar ligament-tibial plateau angle (alpha), distance of the tibial tuberosity advancement and progression of degenerative joint disease. A questionnaire was sent to all owners to obtain their assessment of the procedural outcome. Sixty-five stifles in 57 dogs received a TTA. Mean age was 5.2 +/- 2.5 years while mean weight was 39.7 +/- 11.9 kg. Eighteen breeds were represented with Labrador retrievers and mixed breeds predominating. The mean duration of lameness prior to surgery was 6.2 +/- 6.7 months, with a median lameness score of 3/4. Fifty-nine percent of cases encountered complications, the majority of which were minor. Major post-operative complications were uncommon but consisted of implant failure, tibial crest displacement and medial meniscal tears. The mean radiographic preoperative angle alpha was 100 degrees, while the postoperative was 95.5 degrees. Mean osteoarthrosis scores were significantly different between preoperative and follow-up radiographs with 67% of cases showing radiographic progression. Seventy percent of owners responded to the survey with overall outcome considered good to excellent in 90%. Activity level was improved in 90% of responses. TTA subjectively appears to be a useful alternative in the management of cranial cruciate ligament disease. Few severe complications were encountered. Good clinical outcome and owner satisfaction was reported with the procedure in this set of cases.
Animals↗
Enhancing skin self-examination with imaging: evaluation of a mole-mapping program.
BACKGROUND: To enhance early detection of melanoma with thorough skin self-examination, we have enrolled patients in a mole-mapping program that uses digital imaging of the skin. OBJECTIVE: The goal of our study was to evaluate the impact of participation in the mole-mapping program on performance of thorough skin self-examination. METHODS: The study was carried out by telephone survey of 64 program participants, using self-report to assess impact. RESULTS: Participants were generally satisfied and found the program useful and effective; 97% would recommend it. Almost half (45%) of those who were not performing thorough skin self-examination before participation reported performing it after receiving their images. After participation, a partner such as a spouse or friend was more commonly assisting in these examinations. We also noted a correlation (of borderline statistical significance) between sun protection and performance of self-examination, and differences among different definitions of thorough skin self-examination. CONCLUSION: Interventions centered around imaging have the potential to substantially enhance and encourage the performance of thorough skin self-examination for the early detection of melanoma.
Adolescent↗
Interrelationships among physicochemical properties, absorption and anthelmintic activities of 2-desoxoparaherquamide and selected analogs.
The interrelationships between physicochemical properties, absorption and potency of 2-desoxoparaherquamide and five analogs, representing a new anthelmintic class, were evaluated in in vitro and in vivo assays. At pH 7.5, rates of drug absorption by the gastrointestinal nematode Haemonchus contortus and jird small intestine, parameterized by the permeability coefficient, P(e), ranged from 1.2-2.4 x 10(-4) cm/min (nematode) to 2.5-5.5 x 10(-3) cm/min (jird). In the jird intestine, absorption was pH-dependent, with P(e) at pH 7.5 being twice that at pH 4.5, reflecting the negative influence of protonation on transport of these weakly basic molecules. Each compound rapidly paralyzed H. contortus during in vitro exposure to therapeutically relevant concentrations (1-10 microm). The kinetics of drug action on motility in vivo mirrored their in vitro effects; motility concentrations were reduced in nematodes collected from jird stomach 3 h following oral drug dosing, by which time > or =50% clearance of the parasites had occurred. The nematode/medium partition coefficient K ranged from 10.1 to 16.1, consistent with the lipophilic nature of the compounds. The time required to reduce motility in vitro by 50% (t50*) and P(e) were used to determine C(n)*, the concentration of drug in the nematode at t50*, as an indicator of intrinsic potency. In the jird, the apparent potencies of the compounds were insensitive to route of administration (i.e. oral = i.v. = i.p. = i.m.) for H. contortus and two other gastrointestinal nematodes, Ostertagia ostertagi and Trichostrongylus colubriformis; topical administration, however, required three to 10-fold higher doses for equivalent efficacy.
Absorption↗
Humor, laughter, and physical health: methodological issues and research findings.
All published research examining effects of humor and laughter on physical health is reviewed. Potential causal mechanisms and methodological issues are discussed. Laboratory experiments have shown some effects of exposure to comedy on several components of immunity, although the findings are inconsistent and most of the studies have methodological problems. There is also some evidence of analgesic effects of exposure to comedy, although similar findings are obtained with negative emotions. Few significant correlations have been found between trait measures of humor and immunity, pain tolerance, or self-reported illness symptoms. There is also little evidence of stress-moderating effects of humor on physical health variables and no evidence of increased longevity with greater humor. More rigorous and theoretically informed research is needed before firm conclusions can be drawn about possible health benefits of humor and laughter.
Health Status↗
Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients.
The phenotypic variability of non-syndromic cleft lip (CL) is broad. We demonstrate that the prevalence of orbicularis oris (OO) muscle anomalies, detectable only by ultrasound, is higher in first-degree relatives of individuals with overt CL than in the general population. These findings suggest that occult OO defects may be part of the spectrum of the CL phenotype, that offspring of individuals with such defects are at an increased risk to develop overt CL, and that ultrasound may be a useful tool in future population studies designed to identify CL susceptibility genes.
Child↗
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.
An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome.
Abnormalities, Multiple↗
Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay.
The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat expansion, deletion of various portions of FMR1 has also been described in association with the fragile X syndrome. Here we describe a rare polymorphism in the noncoding region of FMR1 that mimics detection of a deletion in a commonly used assay for fragile X syndrome, which can result in misdiagnosis of the disease.
Artifacts↗
Brief coping skills treatment for cocaine abuse: 12-month substance use outcomes.
Patients (N = 108) in a study of cocaine-specific coping skills training (CST), which was found to reduce cocaine use during a 3-month follow-up, were followed for an additional 9 months. CST involved coping skills training in the context of high-risk situations. Control treatment used meditation-relaxation. Both were added to comprehensive private substance abuse treatment. Patients in CST who relapsed had significantly fewer cocaine use days than did the control group during the first 6 months, then both conditions did equally well. Patients in CST also drank alcohol more frequently in the last 6 months than did contrast patients but did not differ in heavy drinking days. For cocaine use outcomes, no interaction of treatment was found with gender, education, route of administration, drug use severity, sociopathy, or depression. Implications include the need to investigate different lengths and combinations of treatment.
Adaptation, Psychological↗
The aspiration-irrigation maneuver.
OBJECTIVES/HYPOTHESIS: To compare cultures obtained from the aspiration-irrigation maneuver (AIM) with other reports and compare diagnostic and therapeutic value after AIM versus the Proetz maneuver and needle aspiration-irrigation. STUDY DESIGN: Patients with radiographic evidence (mucous membrane thickness greater than 6 mm, air-fluid levels, or complete opacification) and symptoms (nocturnal cough, fever, postnasal drainage [PND], otitis, mucopurulent discharge from the nose) of sinus disease who were referred from pediatrician and/or family physician and who otherwise would be candidates for surgery were selected to receive treatment with AIM. The study was divided into three separate groups (54 patients who were age 8 years and younger, 54 patients who were age 9 years and older, and 32 adult patients who were treated with both needle aspiration and AIM. METHODS: Using Bernoulli's principle and the Venturi effect, saline and a vacuum apparatus were used to capture the contents of the sinuses for culture, and results were compared with results of needle aspirate cultures. RESULTS: Children's cultures from group 1 compared favorably with the literature (Haemophilus influenzae, Moraxella catarrhalis, and Streptococcus pneumoniae or a combination of these); cultures in patients age 9 years and older revealed a greater variety of bacteria, depending on chronicity of infection, and a high incidence of Staphylococcus aureus (beta-lactamase positive). There was a 66% correlation of AIM with needle aspiration. CONCLUSIONS: AIM was found to be a safe, simple, painless, and inexpensive adjunct to the diagnosis and treatment of sinus disease.
Adult↗
Predictors of compliance with naltrexone among alcoholics.
OBJECTIVE: Naltrexone has been found to be an effective adjunct to treatment to reduce the rate of drinking among alcoholics. However, adherence to the medication has been of considerable concern; the high rates of noncompliance with the medication limits the benefits that could potentially be realized from this pharmacotherapy. Knowledge of predictors of noncompliance could result in interventions targeted at these variables. METHOD: Participants were 128 alcohol-dependent patients who participated in a clinical placebo-controlled trial of naltrexone. Upon discharge from a 1- to 2-week partial hospital program, patients were randomly placed into 12 weeks of naltrexone (50 mg/day) or placebo (n = 64 per condition). Patients met with a physician and a research assistant weekly for 4 weeks then biweekly for 8 weeks. RESULTS: Compliance (number of days taking medication) was not predicted by demographic or pretreatment alcohol use variables. Number and severity of side effects in the first week, particularly nausea and fatigue, predicted early termination. Compliance was not predicted by commitment to abstinence or self-efficacy about abstinence, but was greater among patients who believed more strongly that the medication would help them stay sober. Compliance was not predicted by general level of urge to drink during the first week on medication but compliance was greater among those with a higher urge to drink in response to alcohol stimuli in the laboratory. CONCLUSIONS: Implications for approaches to increase compliance include reducing side effects and increasing patients' beliefs in the efficacy of naltrexone.
Adult↗
Thorough skin examination for the early detection of melanoma.
BACKGROUND: Melanoma is a major public health problem for which early detection may reduce mortality. Since melanoma is generally asymptomatic, this requires skin examination. We sought to evaluate the extent to which the general public has their skin examined by themselves, their partners, or health care providers and the frequency of these examinations. METHODS: Random-digit-dial survey of adult Rhode Islanders. RESULTS: Only 9% performed a thorough skin examination (TSE) at least once every few months, although over half of the sample reported conducting skin self-examination "deliberately and systematically." Participants were more likely to perform TSE if they were women and if their health care provider had asked them to examine their skin. Most participants reported that their health care provider never or rarely looked at the areas of their skin in which melanoma is most likely to arise. CONCLUSIONS: The reported frequency of skin self-examination depends critically on the manner of inquiry. TSE by self or a partner is uncommon, and health care providers do not routinely examine the areas of the skin on which melanomas commonly arise.
Adult↗
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals with SHH mutations, including nonsense and missense mutations, deletions and an insertion. These mutations occur throughout the extent of the gene. No specific genotype-phenotype association is evident based on the correlation of the type or position of the mutations. In conjunction with our previous studies, we have identified a total of 23 mutations in 344 unrelated cases of HPE. They account for 14 cases of familial HPE and nine cases of sporadic HPE. Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. Interestingly, three of the patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development. We suggest that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.
Amino Acid Sequence↗
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).
Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.
Aneuploidy↗
Inhibition of Na+,K+-ATPase by the cardenolide 6'-O-(E-4-hydroxycinnamoyl) desglucouzarin.
Among the major cardenolides from the milkweed Asclepias asperula, 6'-O-(E-4-hydroxycinnamoyl) desglucouzarin has not been characterized biochemically. In this study, its binding affinity for a physiological receptor, porcine kidney Na+,K+-ATPase, was found to be lower than the other cardenolides in this plant. The order of affinities from highest to lowest was: uzarigenin (Kd = 1.05 microM) = desglucouzarin (Kd = 0.98 microM) > uzarin (Kd = 4.0 microM) > 6'-O-(E-4-hydroxycinnamoyl) desglucouzarin (Kd = 16 microM). The chemical attachment of the 4-hydroxycinnamoyl group to the 6'-carbon of desglucouzarin significantly inhibits binding. This agrees with predictions that a 5'-methyl group on cardenolides fits the receptor site optimally for the porcine kidney enzyme. The 4-hydroxycinnamic ester was also found to be fluorescent.
Cardenolides↗
High-performance liquid chromatographic determination of ochratoxin A in artificially contaminated cocoa beans using automated sample clean-up.
A HPLC method is described for the analysis of ochratoxin A at low-ppb levels in samples of artificially contaminated cocoa beans. The samples are extracted in a mixture of methanol-water containing ascorbic acid, adjusted to pH and evaporated to dryness. Samples in this state are then placed onto a Benchmate sample preparation workstation where C18 solid-phase extraction operations are performed. The resulting materials are evaporated to dryness and analyzed by reversed-phase HPLC with fluorescence detection. The method was evaluated for accuracy and precision with R.S.D.s for multiple injections of sample and standard calculated to 1.1% and 2.5% for sample and standard, respectively. Recoveries of ochratoxin A added to cocoa beans ranged from 87-106% over the range of the assay.
Autoanalysis↗
Absence of the superior labial frenulum in holoprosencephaly: a new diagnostic sign.
The upper lip of 17 consecutive individuals with various forms of holoprosencephaly were examined either at autopsy or during clinical evaluation. A total of 88% of cases were missing the superior labial frenulum regardless of the severity of holoprosencephaly or other associated craniofacial defects. Because the frenulum was found to be missing across a complete clinical spectrum of holoprosencephaly including cases exhibiting only minimal craniofacial features, it should be inspected as part of the craniofacial examination, and its absence should be prompt imaging studies of the brain. Absence of the frenulum in holoprosencephaly also provides evidence that its embryonic origin is that of the medial nasal process.
Holoprosencephaly↗
In vitro metabolism of ceftiofur in bovine tissues.
The metabolism of ceftiofur in bovine kidney, liver, muscle and lung, and the effects of the presence of cystine and glutathione in the media were evaluated using S-9 and microsomal tissue fractions. Conversion of ceftiofur to desfuroylceftiofur (DFC) was catalyzed by an esterase which was most active in kidney, followed by liver. It was not very active in muscle and lung. After DFC was liberated, it rapidly bound primarily to tissue proteins (> 56%), and was also conjugated to cysteine and glutathione. Production of DFC-cysteine by disulfide exchange of DFC with cystine and production of DFC-glutathione by conjugation of DFC to glutathione occurred in buffer if glutathione and cystine were present in the medium. These conjugations were also observed in incubations with tissue fractions, indicating that they were not inhibited by the tissues endogenous molecules. In addition, the metabolism of DFC-glutathione to DFC-cysteine was observed when tissue proteins were present. The metabolism of DFC-glutathione to DFC-cysteine was faster in kidney than in liver. Metabolites devoid of an intact beta-lactam ring were not observed in these in vitro studies.
Animals↗