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Biomedical subjects

J Zeller

Publications and source records attributed to J Zeller.

At least 19 recordsLinked to original sources
PubMed2000

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites. We used denaturing gradient gel electrophoresis to analyse exons 16, 28, 29 and 49, which contain 45 (25%) of the 183 possible mutations that could occur at the 120 CpG dinucleotides of the coding sequence. Six different mutations were identified, five of which are novel: two truncating mutations, W1810X and 5448insG, located in exon29; two splice defects leading to exon29 skipping, 5206-2A>G and 5546G>A; and one missense mutation, L844F, located in exon16. The already described R1748X mutation located in exon29 was found in two unrelated patients. The 5546G>A and R1748X mutations are located at CpG sites, whereas the W1810X involves a CpNpG site. Four novel polymorphisms, which may be helpful for family studies, were also identified. Overall, all but one mutations were found in exon29, a result which suggests that all the CpG sites of the NF1 coding sequence do not have the same mutability, and that exon29, the most CpG-rich exon, contains mutational hotspots associated with NF1.

Adolescent↗
PubMed2000

Efficacy of a vibratory stimulus for the relief of HIV-associated neuropathic pain.

Pain related to HIV disease is frequently debilitating. Of the many pain syndromes that occur in persons with HIV, distal symmetrical polyneuropathy (DSPN) is particularly devastating. Because DSPN often responds, at best, only partially to available pharmacologic interventions, non-pharmacologic interventions need to be investigated. Vibration has been suggested to be effective for reducing pain in other populations with chronic pain. This randomized, sham-controlled, double-masked study tested the short-term efficacy of a 45-min vibration treatment for DSPN foot pain in persons infected with HIV. Vibration therapy was delivered using a portable platform foot vibrator that provided stimulation at a frequency of 60 Hz. For all patients, the control box for the vibrator emitted an audible hum and part of the control box lit up during treatment, but only patients randomized to active treatment received vibration. Pain intensity (0-10) was measured immediately prior to and after treatment. Subjects were also questioned regarding pain relief (0-100%) immediately after the treatment. The mean percentage pain relief was 61.0+/-33.1% (median 70.0; range 0-100) for all patients, 67.3+/-34.0% (median 80.0; range 0-100) for vibration patients, and 55.0+/-32.0% (median 60.0; range 0-100) for sham patients. No statistically significant differences were found between the vibration and sham groups with respect to percentage pain relief (Mann-Whitney test; P=0.19) or the pre- and post-treatment current-pain difference (Mann-Whitney test; P=0.92). These results underscore the necessity for control groups in studies of non-pharmacologic therapies for pain.

Adult↗
PubMed2000

Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients.

Neurofibromatosis 1 (NF1) is associated with many internal complications as well as skin manifestations, and patients may require a variety of medical and surgical interventions. We aimed to assess the medical needs of NF1 patients, and to evaluate the financial cost of the resources used for them in relation to the severity of the disease. We conducted a prospective analysis on a cohort of 201 patients in our referral centre for adults. Severity of the disease was assessed. Therapeutic management was considered as multidisciplinary if it required more than three different specialists. Plastic and dermatological surgery procedures performed were recorded. Hospital costs were computed over a 3-year period and included all hospitalization days, clinic visits and procedures performed in all departments where the patients were admitted. One hundred and thirty-seven patients had at least one out-patient procedure or one hospitalization during the follow-up period. The mean cost per patient per year was pound810 (median 240; range 0-13, 860). Multidisciplinary procedures were more frequent in moderately and severely affected NF1 patients than in milder cases (P < 0. 0001); hence, the costs for moderate and severe cases were higher than for less severe groups (P = 0.005). Plastic and/or dermatological surgery was performed with the same frequency in the different severity groups (71%). Regardless of the presence of serious intractable complications, the patients' priority is for treatment of the disfigurement due to the disease. The management of these patients can be considered relatively inexpensive from the viewpoint of the healthcare system.

Adolescent↗
PubMed1999

[Clinical diagnosis of neurofibromatosis type 1].

UNLABELLED: TO DIAGNOSE NEUROFIBROMATOSIS TYPE 1 (NF1) AND TO DETECT ITS COMPLICATIONS: NF1 is the commonest autosomal dominant (1/3000 à 3500 births). Café au lait spots, axillary and inguinal freckling, hamartomas of the iris (Lisch nodules) and multiple cutaneous neurofibromas, characterize NF1. NF1 can be associated with optic gliomas, spinal or peripheral nerve neurofibromas, macrocephaly, cognitive et neurological disorders, une scoliosis and bone abnormalities. Morbidity and mortality of NF1 are linked to multisystemic complications. DIAGNOSIS: In adulthood, diagnosis of NF1 is easy with physical examination: presence of café au lait spots, axillary and inguinal frecklings, neurofibromas. In early childhood, diagnosis can be difficult. Penetrance of the gene is complete by the age of 5 and the diagnosis is made during the follow-up. COMPLICATIONS: Clinical examination can easily identify complications such as scoliosis, pseudarthrosis, hypertension linked to renal artery stenosis or phaeochromocytoma or learning disabilities. CONCLUSION: Annual clinical examination is sufficient for the follow-up of NF1 patients. Screening investigations are not useful because of rare complications, but symptomatic.

Humans↗
PubMed1999

An analysis of two versus three grades for endometrial carcinoma.

Introduction. The current grading of uterine endometrioid adenocarcinoma utilizes a three-grade system based on the amount of nonsquamous solid histologic architecture. Of these three grades, we questioned the practical clinical utility of the intermediate grade. Methods. We retrospectively reviewed endometrial biopsy and uterine histology specimens, quantifying the percentage amount of nonsquamous solid tumor by intervals of 10. We then compared these percentage values to other histopathologic prognostic variables. Results. Eighty-five Stage I and II endometrioid adenocarcinoma patients had their preoperative endometrial curettings and operative hysterectomy pathology reviewed independently by two gynecologic pathologists for surgical staging and outcome with a mean follow-up of 6 years. Using a two-tiered system for assessing uterine tumor grade with a delineating value of 20% nonsquamous solid tumor, we found less interobserver variation (kappa = 0.966) compared to the current three-tiered grading system (kappa = 0.526). There were no differences between the two- and three-tiered grading systems regarding myometrial invasion, lymph vascular space invasion, and survival. In the diagnosis of endometrial biopsies, the two-tiered system also improved the prediction of uterine histology grade over the three-tiered system, 90 and 63%, respectively. Conclusion. A two-grade architecture system with a delineation value of 20% would be more reliable and less cumbersome and would have the same or better prognostic significance as the currently used three-grade system.

Carcinoma, Endometrioid↗
PubMed1999

Local disposition kinetics of floxuridine after intratumoral and subcutaneous injection as monitored by [19F]-nuclear magnetic resonance spectroscopy in vivo.

PURPOSE: To test the utility of [19F]-nuclear magnetic resonance (NMR) spectroscopy for studying the kinetics of local drug disposition after interstitial application in vivo. METHODS: Floxuridine at 30 micromol (2.5% of the reported i.p. 50% lethal dose, LD50) was injected into rats either intratumorally (Morris hepatoma M3924A) or s.c. [19F]-NMR spectra were obtained at the site of administration for up to 5 h after injection using a 2-cm diameter surface coil at 2.0 T. Signal-time data obtained for floxuridine and the metabolite 5-fluorouracil were analyzed using linear compartment models. RESULTS: The lower limit for the quantitation of drug remaining at the site of administration was 1 micromol for tumors and 0.2 micromol for the s.c. injection site. Local drug disposition was biexponential in four of six tumors where the half-lives of the fast and slow components of disposition ranged from 4 to 26 and from 33 to 289 min, respectively. It was monoexponential in the remaining two tumors (half-lives 49 and 128 min) and in the s.c. injection experiments (n = 4, half-life 6-9 min). 5-Fluorouracil could be quantitated in three of six tumors; the estimated fraction of floxuridine converted intratumorally into 5-fluorouracil was 11-23%. Alpha-fluoro-beta-alanine was detected in the sum spectra of three of the six tumours. CONCLUSIONS: Local drug-disposition kinetics after interstitial application can be monitored noninvasively by in vivo [19F]-NMR spectroscopy. Disposition kinetics after local injection is highly variable and has a slow component in this tumor, whereas it is much less variable and relatively fast in subcutaneous tissue. The results suggest that NMR spectroscopy may be useful for in vivo studies of drug release from depot preparations designed for interstitial application.

Animals↗
PubMed1999

APIC position paper: immunization. Association for Professionals in Infection and Epidemiology, Inc.

The Association for Professionals in Infection Control and Epidemiology, Inc. (APIC) is a multidisciplinary organization of more than 11,000 health care professionals who practice infection control and epidemiology within a variety of health care settings. As an authority in infection control, APIC endorses the Advisory Committee on Immunization Practices (ACIP) recommendations that are published by the Centers for Disease Control and Prevention Morbidity and Mortality Weekly Report. APIC supports the immunization initiative of the Healthy People 2000: National Health Promotion and Disease Prevention Objectives, which contains a national strategy for significantly improving the health of the nation, including preventing infectious diseases through immunization.

Adult↗
PubMed1999

APIC position paper: hepatitis C exposure in the health care setting. Association for Professionals in Infection Control and Epidemiology, Inc.

The Association for Professionals in Infection Control and Epidemiology, Inc (APIC), is a multidisciplinary, voluntary, international organization of professionals who practice infection control and the application of epidemiology in all health settings. APIC is an international leader in prevention and control of infection transmission.

Hepatitis C↗
PubMed1999

APIC position paper: responsibility for interpretation of the PPD tuberculin skin test. Association for Professionals in Infection Control and Epidemiology, Inc.

The Association for Professionals in Infection Control and Epidemiology, Inc (APIC) is a multidisciplinary, voluntary, international organization of professionals who practice infection control and the application of epidemiology in all health settings. APIC is an international leader in prevention and control of infection transmission.

Humans↗
PubMed1999

Neurological complications of neurofibromatosis type 1 in adulthood.

Neurofibromatosis type 1 (NF1) is a genetic disease with a wide range of neurological manifestations. To examine these, and to evaluate neurological morbidity in adulthood of patients with NF1, we studied a hospital-based series of 158 patients that included 138 adult patients aged >18 years and 20 children. NF1 evaluation included a multidisciplinary clinical and a clinically oriented radiological investigation. Neurological events occurring during childhood (in both children and adults of the series) and adulthood were recorded. One or several neurological manifestations have been observed in 55% of patients (adults and children) (n = 87). These included: headache (28 patients); hydrocephalus (7); epilepsy (5); lacunar stroke (1); white matter disease (1); intraspinal neurofibroma (3); facial palsy (1); radiculopathy (5); and polyneuropathy (2). Tumours included: optic pathway tumours (20); meningioma (2); cerebral glioma (3); and malignant peripheral nerve sheath tumours (6). Life-threatening complications were observed in five adults and included four malignant peripheral nerve sheath tumours and one meningioma. Pain was the leading symptom in 11 adults and was related to malignant peripheral nerve sheath tumours, complications of intraspinal neurofibromas, subcutaneous neurofibromas and peripheral nerve neurofibromas. NF1 in adults was not associated with other disabling or life-threatening neurological complications. Symptomatic optic pathway tumours, cerebral gliomas, symptomatic aqueductal stenosis and spinal compression due to intraspinal NF were observed exclusively during childhood. In this series, the predominant neurological features of adults with NF1 were chronic pain and malignant peripheral nerve sheath tumours.

Adolescent↗
PubMed1999

Increased fibroblast elastase activity in acquired cutis laxa.

BACKGROUND: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. OBSERVATION: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. Skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. Histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. CONCLUSION: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres.

Adult↗
PubMed1999

The zebrafish diwanka gene controls an early step of motor growth cone migration.

During vertebrate embryogenesis different classes of motor axons exit the spinal cord and migrate on common axonal paths into the periphery. Surprisingly little is known about how this initial migration of spinal motor axons is controlled by external cues. Here, we show that the diwanka gene is required for growth cone migration of three identified subtypes of zebrafish primary motoneurons. In diwanka mutant embryos, motor growth cone migration within the spinal cord is unaffected but it is strongly impaired as motor axons enter their common path to the somites. Chimera analysis shows that diwanka gene activity is required in a small set of myotomal cells, called adaxial cells. We identified a subset of the adaxial cells to be sufficient to rescue the diwanka motor axon defect. Moreover, we show that this subset of adaxial cells delineates the common axonal path prior to axonogenesis, and we show that interactions between these adaxial cells and motor growth cones are likely to be transient. The studies demonstrate that a distinct population of myotomal cells plays a pivotal role in the early migration of zebrafish motor axons and identify the diwanka gene as a somite-derived cue required to establish an axonal path from the spinal cord to the somites.

Animals↗
PubMed1997

Schwannomatosis: a clinical entity distinct from neurofibromatosis type 2.

BACKGROUND: Schwannomatosis includes multiple cutaneous schwannomas, central nervous system tumors and various neurologic deficits. OBJECTIVE: To specify the clinical presentation of schwannomatosis, excluding neurofibromatosis type 2 (NF2). METHODS: Patients with at least 2 cutaneous schwannomas were evaluated for NF2 criteria. RESULTS: 5 men and 2 women (mean age 54 +/- 18 years) we included. Two cases were familial. Cutaneous schwannomas were tender nodules with onset above the age of 30 years. Four patients had paresthesias. Four patients had hypacusis, but auditory brainstem responses showed no retrocochlear involvement. No vestibular schwannoma or central nervous system tumor was found with magnetic resonance imaging in 6 patients. Spinal imaging performed in 6 patients was normal in 5 and showed a spinal schwannoma in the 6th patient. CONCLUSION: We strictly eliminated the diagnosis of NF2 in our patients. Exclusion of NF2 in suspected schwannomatosis is essential for further molecular genetic studies.

Adult↗
PubMed1996

[Neonatal hyperglycemia and diabetes mellitus].

Neonatal hyperglycaemia may be permanent or, more often, transient. Transient hyperglycaemia occurs mainly in premature and low-birth-weight neonates, especially if they are stressed or receive endovenous glucose. There is no clinical or biological sign allowing to predict these children future at the time of diagnosis, even if the seriousness of hyperglycemia, the collapse of insulin secretion, and the association to complex pathologies is more usual in permanent diabetes. This explains why the treatment must be the same, namely precocious insulin therapy.

Diabetes Mellitus↗
PubMed1996

Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients.

OBJECTIVE: To evaluate the usefulness of screening investigations in patients with neurofibromatosis type 1 (NF1). DESIGN: Clinical and screening data were retrospectively collected from a case series of patients with NF1. Screening investigations included an opthalmologic consultation, chest x-ray film, abdominal ultrasonography, cerebral imaging, and analysis of urinary catecholamine levels. Clinical features and complications of patients with NF1 were compared with those of the Neurofibromatoses Institute Clinical Research Program and of the Southeast Wales study patients. SETTING: Ambulatory care in a referral center. PATIENTS: Between 1988 and 1992, 152 patients classified as having NF1 according to the criteria of the National Institutes of Health Consensus Development Conference Statement were studied. MAIN OUTCOME MEASURE: Complications requiring therapeutic action detected using screening investigations vs clinical examination. RESULTS: Systemic chest x-ray films were taken of 134 patients, and intrathoracic nodules thought to be neurofibromas were discovered in 2 patients. Ninety-three asymptomatic patients had cerebral imaging performed, which showed optic pathway glioma in 12 patients. Abdominal ultrasonography was performed on 62 asymptomatic patients, results of which showed internal neurofibromas in 4 patients. In 2 of these patients, abdominal surgery was performed. Eighty-three patients without hypertension had 24-hour urinary specific catecholamine levels analyzed, which were within the normal range. Clinical features and complications were not different from other large clinical studies. Nearly 400 systematic investigations were performed without clinical orientation, detecting 21 abnormalities. In only 2 cases, these discoveries led to therapeutic action. On the other hand, 22 complications requiring treatment were detected by clinical examination. CONCLUSION: Clinical follow-up seems to be more beneficial than systematic investigations in patients with NF1.

Adolescent↗
PubMed1995

Stable isotope determination of plasma lactate conversion into glucose in fasting infants.

To quantify lactate gluconeogenesis, we developed a gas chromatography-mass spectrometry method based on the infusion of [6,6-2H2]glucose and [3-13C]lactate tracers to 12 infants aged 1-25 mo fasting for 11.5 +/- 1.5 h. Both rates of appearance of plasma glucose (26.7 +/- 2.6 mumol.kg-1.min-1, 4.8 +/- 0.5 mg.kg-1.min-1) and lactate (30.8 +/- 3.1 mumol.kg-1.min-1, 2.8 +/- 0.3 mg.kg-1.min-1) were remarkably elevated compared with adult values. The interconversion of plasma lactate and glucose was determined by 1) measuring the incorporation of 13C from [3-13C]lactate into plasma glucose; 2) correcting for the metabolic exchange of carbon atoms in the tricarboxylic acid cycle. For this purpose, an additional group of six infants was infused with [3-13C]lactate, and the distribution of 13C at specific carbon positions in the glucose molecule was determined using relevant ions in the electron-impact mass spectrum of its 1,2,5,6-diisopropylidene-3-O-acetyl-alpha-furanosyl derivative; and 3) measuring the reverse conversion of glucose to lactate in five other infants infused with [1-13C]glucose. We found that 54 +/- 2% of glucose was derived from plasma lactate (14.4 +/- 1.3 mumol.kg-1.min-1, 2.6 +/- 0.2 mg.kg-1.min-1). Lactate and glucose rates of appearance were correlated (r = 0.58, P < 0.05) and decreased with fasting duration (r = 0.66, P < 0.02). The correction factor for carbon exchange in the tricarboxylic acid cycle was 1.14 +/- 0.11.(ABSTRACT TRUNCATED AT 250 WORDS)

3-Hydroxybutyric Acid↗