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Biomedical subjects

J Sherman

Publications and source records attributed to J Sherman.

At least 37 records · Page 2Linked to original sources
PubMed1997

Reliability of the Medtrac MDI Chronolog.

BACKGROUND: The Medtrac MDI Chronolog is an electronic device for monitoring adherence to metered-dose inhalers. It replaces previous models of the Nebulizer Chronolog and uses a different mechanism of recording actuations. OBJECTIVE: This study was carried out to determine whether the new model can accurately record and report the date, time, and number of metered-dose inhaler actuations. METHODS: Four canisters of beclomethasone (Beclovent) were discharged through four Chronologs with fresh batteries at a rate of 1, 2, 4, or 8 times twice daily for 7 days. Four additional canisters were used as controls and discharged simultaneously through the standard actuator. The weight of all canisters and Chronolog battery voltage were measured before and at the end of the 7-day experiment. The data retrieved from the Chronologs were compared with the information recorded manually during each discharge. RESULTS: The loss in canister weight was consistent for the number of puffs discharged from all four Chronolog units and controls. However, the accuracy of the Chronologs in recording the number of actuations varied between 50% and 100%. The largest amount of data loss occurred with the unit used to discharge 8 puffs and was associated with a dead battery at the end of the 7-day trial. For actuations that were retrievable, the Chronologs accurately recorded the date and time. CONCLUSIONS: Unexpected battery voltage drain and other mechanical problems that we encountered may cause data loss and the false appearance of missed doses. Thus the units that we tested were not sufficiently reliable to monitor patient adherence.

Anti-Asthmatic Agents↗
PubMed1997

Breast cancer and pesticides in Hawaii: the need for further study.

Only 30% of all breast cancer can be explained by known risk factors. Increases in breast cancer incidence rates in Hawaii over the past few decades cannot be attributed solely to improvements in screening and detection. Avoidable environmental factors may contribute to a proportion of the unexplained cases. Emerging evidence on endocrine disruption suggests that environmental chemicals may play a role in the development of breast cancer. Agricultural chemicals, including endocrine disruptors, have been used intensively in Hawaii's island ecosystem over the past 40 years leaching into groundwater, and leading to unusually widespread occupational and general population exposures. This paper discusses breast cancer patterns in Hawaii in the context of documented episodes of exposure to two endocrine-disrupting chemicals, chlordane/heptachlor and 1,2-dibromo-3-chloropropane (DBCP), at levels that sometimes exceeded federal standards by several orders of magnitude. In light of this history, detailed geographic-based studies should be undertaken in Hawaii to elucidate the potential role of environmental factors in the development of breast cancer and other diseases.

Adult↗
PubMed1997

Methadone maintenance and hepatitis C virus infection among injecting drug users.

Harm reduction strategies for the prevention of transmission of human immunodeficiency virus (HIV) transmission among injecting drug users (IDUs) have been widely implemented in Australia and are seen to have been effective in preventing the spread of HIV. A major strategy has been increasing the availability of and accessibility to methadone maintenance therapy (MMT) programmes. We have reviewed the experience of a major MMT general practice with hepatitis C virus (HCV) infection from 1991 to 1995. Of 1741 individuals tested for HCV antibodies at least once 66.7% were positive. Of 73 IDUs who were initially seronegative and were retested at least once, 19 were subsequently seropositive. Seroconverters to HCV were younger than non-seroconverters, and were more likely to have evidence of previous hepatitis B infection. The overall HCV incidence rate was 22 cases per 100 person-years, and this did not differ between those on MMT programs (continuous or interrupted) between HCV tests and those not on MMT. These findings suggest that the role of MMT in the control of the spread of HCV infection among IDUs needs further assessment, and that control of the current epidemic of HCV infection among IDUs in Australia will be very difficult.

Adult↗
PubMed1996

Gait training efficacy using a home-based practice model in chronic hemiplegia.

OBJECTIVE: The efficacy of a home practice model for gait training was evaluated in 18 hemiplegic subjects 2.3 years (range, 1 to 5) after stroke. DESIGN: Uncontrolled case series. SETTING: Referral center. SUBJECTS: Patients at least 1 year poststroke referred to an outpatient rehabilitation program. INTERVENTION: Patients were taught home programs in two or more 2- to 5-day blocks averaging 35 physical therapy (PT) contact hours (range, 9.5 to 62.5); training extended over a mean of 22 months (range, 10 to 65). Training emphasized weight bearing, balance, segmental control, stretching, and bracing. MAIN OUTCOME MEASURES: Gait changes were measured using the newly developed Wisconsin Gait Scale (WGS). The patient-rated Falls Efficacy Scale (FES) was administered before and after training to 8 subjects, and the Health Status Questionnaire (HSQ) was retrospectively administered to all subjects to appraise subjective pretraining to posttraining changes and current psychological status. RESULTS: The average WGS score significantly improved (p < .05). Patients perceived that gait training increased the quality of their functional activities (p < .05). In a subset of patients, the FES showed that fear of falling was decreased (p < .05). Perception of well-being was comparable to a normative nonstroke reference population except for physical functioning. Compared to the only other published series (using traditional outpatient programming), the current model was of comparable cost. CONCLUSION: Despite the literature indicating a plateau in mobility function by 6 months after stroke, postacute training of gait in hemiplegic subjects using a home-based training model results in improved gait and the perception of improved function. Additionally, we provide validation for the newly developed Wisconsin Gait Scale, an instrument of gait measurement that may assist in comparing outcomes.

Activities of Daily Living↗
PubMed1996

Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.

Nucleotide-sequencing and multiplexed primer-extension assays have been used to quantitate the mutant-allele frequency in 14 maternal relatives, spanning three generations, from a family that is heteroplasmic for the primary Leber hereditary optic neuropathy (LHON) mutation at nucleotide 3460 of the mitochondrial genome. There was excellent agreement between the values that were obtained with the two different methods. The longitudinal study shows that the mutant-allele frequency was constant within individual family members over a sampling period of 3.5 years. Second, although there was an overall increase in the mutant-allele frequency in successive generations, segregation in the direction of the mutant allele was not invariant, and there was one instance in which there was a significant decrease in the frequency from parent to offspring. From these two sets of results, and from previous studies of heteroplasmic LHON families, we conclude that there is no evidence for a marked selective pressure that determines the replication, segregation, or transmission of primary LHON mutations to white blood cells and platelets. Instead, the mtDNA molecules are most likely to replicate and segregate under conditions of random drift at the cellular level. Finally, the pattern of transmission in this maternal lineage is compatible with a developmental bottleneck model in which the number of mitochondrial units of segregation in the female germ line is relatively small in relation to the number of mtDNA molecules within a cell. However, this is not an invariant pattern for humans, and simple models of mitochondrial gene transmission are inappropriate at the present time.

Alleles↗
PubMed1996

Circumcision: successful glanular reconstruction and survival following traumatic amputation.

PURPOSE: Circumcision remains the most common operation performed on male individuals in the United States. Unfortunately various complications may occur during circumcision ranging from trivial to tragic. We report 7 cases of traumatic amputation of the glans penis and/or urethra during circumcision. In addition, errors in circumcision technique as probable mechanisms of injury, principles of repair and limits of tissue viability are discussed. MATERIALS AND METHODS: The medical records of 7 patients who underwent traumatic circumcision amputation of the glans penis and/or urethra were reviewed. Glanular amputation occurred in 6, 8-day-old neonates during ritual circumcision and in 1, 5-month-old infant circumcised by a physician. RESULTS: Excised glanular tissue remained viable up to 8 hours after injury. Followup ranged from 8.5 to 108 months. All patients had an acceptable cosmetic result. No long-term complications developed in the 8-day-old group but a distal urethral fistula formed in the 5-month-old patient. CONCLUSIONS: Careful selection of technique and device as well as strict attention to detail at circumcision should eliminate most injuries. On the basis of our results we recommend reanastomosis of the glans and/or urethra following distal amputation even when there is a delay in surgical repair of up to 8 hours.

Amputation, Traumatic↗
PubMed1996

Characterization of a derivative chromosome 17 by fish-technique.

We report a case with derivative chromosome 17 which could not be characterized by routine G-banding, since the additional material on 17q overlapped with chromosome bands 2q35 -->qter, 3p25-->pter, 4p15-->pter, 5q33-->qter, 7p15-->pter, 12p11.2-->pter, 14q24-->qter and 16q22-->qter. Therefore, whole chromosome paint and region specific probes were used to identify the abnormality by FISH-technique which revealed a 46,XY, der (17) t (4;17) (p15.2;q25) karyotype. The proband was partially trisomic for 4p15.2-->pter and monosomic for the distal 17q25-->qter regions. The major clinical features included: anti-mongoloid slanted palpebrae, coloboma of right iris, depressed nasal bridge, high arched palate, protruding tongue, micrognathia and small penis. The MRI of the brain revealed midly hypoplastic cerebellar vermis, and a normal septum pellucidum. The infant responded to therapy for hypoglycemia and was discharged under stable condition. Prior to cytogenetic evaluation the infant was not recognized as either "trisomy 4p syndrome" or "monosomy 17q syndrome".

Abnormalities, Multiple↗
PubMed1996

Leber's hereditary optic neuropathy: historical and contemporary considerations.

Leber's hereditary optic neuropathy (LHON) is a distinct form of optic atrophy with a unique pattern of inheritance. The clinical reports of this disorder remain consistent with the original classic description made by Theodor Leber in 1871. Recent advances in the field of molecular genetics, however, have yielded insights into the etiological determinants underlying the clinical expression of LHON. Disease presentation, both ophthalmoscopically and clinically, are reviewed. Classic and atypical presentations are discussed with genetic testing as the definitive diagnostic measurement. Clinical and histopathological findings have led to the investigation of promising preclinical indicators of LHON symptomatology. Evidence of a multifactorial etiology has implicated a broad spectrum of potential intervention protocols. Teaming of the clinician and laboratory geneticist to identify those at risk is critical, not only for future clinical protocols, but to allow for immediate intervention when an effective therapy becomes available.

Diagnosis, Differential↗
PubMed1995

The tolerability and pharmacokinetics of N-butyl-deoxynojirimycin in patients with advanced HIV disease (ACTG 100). The AIDS Clinical Trials Group (ACTG) of the National Institute of Allergy and Infectious Diseases.

Twenty-nine patients were enrolled in a phase I dose-escalating tolerance trial of N-butyl-deoxynojirimycin, an alpha-glucosidase I inhibitor that inhibits human immunodeficiency virus (HIV)-1 replication by altering glycosylation of gp120. Dosing was begun at 8 mg/kg/day and subsequent doses were 16, 32, 48, and 64 mg/kg/day. The maximum tolerated dose was not achieved because of slow accrual and because the study was stopped after the finding of cataracts in initial long-range rat toxicology studies. These cataracts were later shown to be transient and not found in other animals. The most common side effects were gastrointestinal, with diarrhea and flatulence occurring in most subjects, which seemed to partially improve on a modified diet that excluded complex carbohydrates. Grade III elevations in liver function tests were seen in two patients. Grade III leukopenia and neutropenia were seen in seven patients, but were only severe enough in two to require discontinuation. No significant trends in CD4 cell counts or HIV-1 p24 levels were noted.

1-Deoxynojirimycin↗
PubMed1995

Flash visual evoked potential (VEP) in amblyopia and optic nerve disease.

Amblyopia and optic atrophy are two very different causes of unilateral long-standing visual impairment. Yet, in some patients the differential diagnosis is not always manifest and standard clinical tests may fail to provide accurate information. We tested the efficacy of a nonstandard clinical test [flash visual evoked potentials (VEP's)] and quantitative multivariate statistical techniques as aids in the assessment of this differential. Thirty-three patients were separated into four groups (normal, anisometropic amblyopia, strabismic amblyopia, and unilateral optic atrophy). Non-patterned flash VEP's were obtained using several different temporal frequency rates. Patients with optic atrophy had significantly reduced VEP's in the affected eye at all temporal frequencies. Strabismic amblyopes, but not anisometropic amblyopes, often showed supranormal responses in the affected eye at the higher temporal frequencies. Finally, by using discriminant analysis (DA) we were able to classify correctly almost 70% of the patients, well above chance level of 25%. This DA provided very good sensitivity and specificity. We have shown that the use of flash VEP's and of multivariate statistical techniques may provide an effective way to diagnose amblyopia differentially from optic atrophy.

Amblyopia↗
PubMed1995

The effect of thyroid hormone treatment on the gene expression and enzyme activity of rat liver sodium-potassium dependent adenosine triphosphatase.

The effects of thyroid hormone (T3) treatment on liver Na,K-adenosine triphosphatase (Na,K-ATPase) at the levels of subunit messenger RNA (mRNA), enzymatic activity, and enzyme content were studied in euthyroid rats injected for 5 consecutive days with T3. Northern and slot blot analyses of polyadenylated mRNA revealed that T3 treatment coordinately increases the level of mRNA encoding the alpha 1- and beta 1-subunits, approximately 4- and 3-fold, respectively, above basal levels. To determine whether this increase in the subunit mRNA consequently results in an increase in the synthesis of the enzyme, a modified liver cell fractionation procedure was developed, and the subcellular fractions from control and T3-treated livers were examined biochemically. Western blot analysis and Na,K-ATPase assay demonstrated that T3 treatment resulted in a 2-fold increase in both the amount and activity of the enzyme. Furthermore, the Western blot analysis of endoglycosidase-H-treated membrane fractions revealed an increase in the amount of the precursor beta-subunit in the T3-treated liver rough microsomal fraction, suggesting that an increase in subunit synthesis contributes at least partially to the increase in the rat liver Na,K-ATPase by T3 treatment.

Animals↗
PubMed1995

Pathophysiology of spinal cord injury. Recovery after immediate and delayed decompression.

We evaluated the effect of the timing of decompression of the spinal cord after compression of 50 per cent of the diameter of the spinal cord at the fourth lumbar level in thirty purebred dogs. The dogs were divided into five groups of six dogs each on the basis of the duration of the compression. Decompression was performed immediately (Group I), one hour (Group II), six hours (Group III), twenty-four hours (Group IV), or one week (Group V) after the compression. Monitoring of somatosensory evoked potentials, daily neurological examinations, and histological and electron microscopic studies at the time of the autopsy were performed for all of the dogs. Initially, all of the dogs were paraplegic after the compression of the spinal cord. The dogs that had immediate decompression or decompression after one hour of compression recovered the ability to walk (grades 4 and 5, according to Tarlov's system) as well as control of the bowel and bladder, and the somatosensory evoked potentials improved an average of 85 and 72 per cent, respectively. However, when compression lasted six hours or more, there was no neurological recovery and there was progressive necrosis of the spinal cord. Somatosensory evoked potentials improved 29 per cent in Group III, 26 per cent in Group IV, and 10 per cent in Group V. The percentage of recovery of the somatosensory evoked potentials by six weeks after the decompression was significantly related to the duration of the compression (p < 0.0008).

Animals↗
PubMed1995

Atypical herpetic endotheliitis.

BACKGROUND: Three patients ranging in age from 26 to 40 years presented with unilateral posterior stromal lesions with diffuse stromal edema. There was no history of prior surgery, trauma, infectious disease, dystrophy or exposure to noxious agents. Only one patient had signs of anterior chamber reaction and none of the patients showed any sign of epithelial involvement or of associated blood vessels or scarring. All three patients presented with features atypical of herpetic disease, such as lack of epithelial involvement and posterior stromal opacification. They also demonstrated many of the typical characteristics of herpetic disease, however, and thus were diagnosed as having herpetic endotheliitis. RESULTS: All three patients were treated with a regimen of antiviral agents and corticosteroids. Two patients improved, although the time frame differed in each. One patient subjectively improved, then worsened 1 month later after discontinuing treatment on her own. She was lost to subsequent follow-up. CONCLUSIONS: Young patients presenting with unilateral posterior stromal opacification and stromal edema in the absence of epithelial involvement are likely to have endotheliitis of herpetic origin.

Adult↗
PubMed1994

Homozygous deletions within chromosomal bands 9p21-22 in bladder cancer.

The loss of DNA sequences on chromosomal bands 9p21-22 has been documented in a variety of malignancies including leukemias, gliomas, lung cancers, and melanomas. Because of the high incidence of monosomy 9 detected by both cytogenetics and loss of heterozygosity studies in bladder cancer, we examined seven bladder cancer cell lines for deletions in this region. Using seven DNA probes that span the region of 9p21-22 as well as a functional assay for methylthioadenosine phosphorylase (MTAP), which maps to 9p21, we found four cell lines that had small homozygous deletions. These deletions map centromeric to the interferon (IFN) gene cluster and telomeric to D9S171. Only one of the cell lines with deletions had a cytogenetically evident lesion in this chromosomal region. Preliminary loss of heterozygosity studies with 10 primary bladder cancer specimens using 10 markers spanning chromosome 9 revealed loss of heterozygosity at the IFN locus with retention of heterozygosity with more centromeric 9p markers and all informative 9q markers in the tumor of one patient. These data suggest that loss of a tumor suppressor gene on 9p21-22, which may represent a general pathway of oncogenesis, is important in bladder cancer development.

Blotting, Southern↗
PubMed1994

Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques.

A 12 1/2-month-old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine cytogenetic techniques the presence of an unidentifiable marker chromosome and loss of one X chromosome was noted (i.e. 45, X/46, X, mar/47, X, mar, +mar). By fluorescence in situ hybridization (FISH) technique, the marker chromosome was identified as an isodicentric non-fluorescent Y chromosome ((45, X/46, X, idic (Ynf)/47, X, idic (Ynf), +idic (Ynf)). Although the clinical significance of this finding cannot be assessed at present, possible development of gonadoblastoma in such cases is a major concern and warrants follow-up evaluations.

Chromosome Banding↗
PubMed1994

Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?

Late-onset muscle weakness is rare in glycolytic disorders. There are two reports in the literature of phosphofructokinase (PFK)-deficient Ashkenazi Jews with severe vacuolar myopathy manifesting in late adulthood. The genetic abnormality in these patients is unknown. We report a third patient with a similar syndrome: early-onset exercise intolerance in young childhood and progressive weakness in a limb-girdle distribution appearing at 57 years of age, leading to severe incapacity. Muscle histology showed diffuse vacuolar changes, and muscle fibers contained excess glycogen-like material. Muscle biochemistry was diagnostic for PFK deficiency. DNA analysis from the patient and his family showed that he was homozygous for a recently identified point mutation at the exon 5/intron 5 junction (a G-to-A change); two other family members were heterozygous for this mutation. It is not clear whether late-onset weakness is the natural course for all PFK-deficient patients or whether the exon 5 mutation carries increased risk for this severe myopathy.

Base Sequence↗