Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test.
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Alleles↗
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Results for “Sweat analysis”
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Gustatory sweating in diabetes mellitus.
Gustatory sweating has been only rarely reported in diabetes mellitus and is thought to be due to axonal regeneration within the autonomic nervous system. We investigated the relationship of gustatory sweating to other diabetic complications. 196 patients in four groups (diabetic nephropathy, diabetic neuropathy, diabetic controls, and non-diabetic renal failure) were questioned about gustatory sweating. Somatic and autonomic neuropathy were assessed by clinical signs, vibration perception threshold, and heart rate variability. Sixty-nine percent of patients with nephropathy and 36% of those with neuropathy reported gustatory sweating, whereas less than 5% reported it in the other two groups. Five subjects reported that gustatory sweating either disappeared or significantly improved immediately after renal transplantation. Analysis of the nephropathy and neuropathy groups separately showed a strong correlation between gustatory sweating and degree of neuropathy (p < 0.01). This study shows that gustatory sweating is much more common than previously believed and demonstrates that it is often very closely linked with diabetic nephropathy.
Analysis of Variance↗
Abnormal apical cell membrane in cystic fibrosis respiratory epithelium. An in vitro electrophysiologic analysis.
The transepithelial chloride permeability of airway and sweat ductal epithelium has been reported to be decreased in patients with cystic fibrosis (CF). In the present study, we investigated whether the airway epithelial defect was in the cell path by characterizing the relative ion permeabilities of the apical membrane of respiratory epithelial cells from CF and normal subjects. Membrane electric potential difference (PD) and the responses to luminal Cl- replacement, isoproterenol, and amiloride were measured with intracellular microelectrodes. The PD across the apical barrier was smaller for CF (-11 mV) than normal (-29 mV) epithelia whereas the PD across the basolateral barrier was similar, (-26 and -34 mV respectively). In contrast to normal nasal epithelium, the apical membrane in CF epithelia was not Cl- permselective and was not responsive to isoproterenol. Amiloride, a selective Na+ channel blocker, induced a larger apical membrane hyperpolarization and a greater increase in transepithelial resistance in CF epithelia. Both reduced apical cell membrane Cl- conductance and increased Na+ conductance appear to contribute to the abnormal function of respiratory epithelia of CF patients.
Amiloride↗
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
We assessed the contribution of the sweat test, genotyping and nasal potential difference (NPD) in the diagnosis of cystic fibrosis (CF) in adults with diffuse bronchiectasis (DB). Among 601 adults referred for DB from 1992 to 2001, 46 were diagnosed with CF. The sweat test was positive in 37 patients and normal or intermediate in nine patients. Two CF mutations were identified in 18 patients (39%) by screening for 31 mutations and in 36 patients (78%) after complete genetic analysis. NPD was suggestive of CF in 71% of the patients. The combination of the sweat test and genetic analysis led to the diagnosis of CF in 45 patients. In the nine patients with normal or intermediate sweat test, the diagnosis was confirmed by screening for 31 mutations in five, by complete genetic screening in three, and by NPD in the remaining patient. Searching for CF should start with sweat test. If the sweat test is normal or intermediate, screening for 31 mutations may help to diagnose CF. A complete genetic analysis is indicated when only one mutation is detected and/or when other clinical features, such as obstructive azoospermia or pancreatic insufficiency, are suggestive of CF. NPD measurement is indicated in controversial cases.
Adolescent↗
Identification of schizophrenic patients by examination of body odor using gas chromatography-mass spectrometry and a cross-selective gas sensor array.
BACKGROUND: Previous findings have shown that the body odor of patients affected by schizophrenia contains some specific compounds. Chemical sensor technology has proved to be able to classify different odours. We investigated the possibility of using a chemical sensor array to detect body odor alteration in schizophrenic patients. MATERIAL/METHODS: The sweat of subjects was sampled and analysed by Gas Chromatography-Mass Spectrometry (GC-MS) and by an array of cross-selective gas sensors. A total of 27 individuals were involved in the experiment: 9 schizophrenics, 9 with other mental disorders, and 9 controls. RESULTS: GC-MS analysis showed a richer composition for the sweat of schizophrenic patients. Nevertheless, the individuation of specific markers was unsuccessful. On the other hand, statistical analysis of cross-selective gas sensor data provided a complete classification of schizophrenic patients with respect to the other three groups. CONCLUSIONS: The alteration of body odor in schizophrenic patients was confirmed by GC-MS and chemical sensor array. Results show that the alteration is complex and cannot be limited to a single compound, but rather to a global variation of the body odor.
Adult↗
Relationship between menopausal symptoms and menopausal status in Australian and Japanese women: preliminary analysis.
The main aim of the present study was to explore the midlife experience for women living in Australia and Japan. The specific objectives of the study included: (i) comparing menopausal symptoms between the two groups; and (ii) comparing the factor structure of symptoms and exploring their relationship to menopausal status. Postal questionnaires were distributed to two structured, random population based samples of midlife women aged 45-60 years; consisting of 712 women living in Australia and 1502 women living in Japan. Analysis showed significant differences in menopausal symptoms related to psychological symptoms (P < 0.001), including anxiety (P < 0.001) and depression (P < 0.001), somatic symptoms (P < 0.001), and vasomotor symptoms (P < 0.01). The analysis, which excluded hormone replacement therapy (HRT) users, found that there were significant differences seen across menopausal status in the following symptoms: difficulty in sleeping (P < 0.01), difficulty in concentrating (P < 0.01), feeling dizzy or faint (P < 0.001), loss of interest in most things (P < 0.01) and loss of feeling in hands or feet (P < 0.001). In the postmenopausal stage specifically, significant differences were seen in the areas of feeling tense or nervous (P < 0.01), feeling unhappy or depressed (P < 0.01), parts of body feeling numb or tingling (P < 0.05), headaches (P < 0.01), and sweating at night (P < 0.05). Our analysis revealed that the experience of menopause for women is different between Australian and Japanese women.
Australia↗
Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood.
OBJECTIVE: To define the clinical characteristics and diagnostic parameters of patients with cystic fibrosis (CF) diagnosed in adulthood. DESIGN: Retrospective cohort study. SETTING: Tertiary care center. PATIENTS AND METHODS: All patients with a diagnosis of CF made at the Toronto CF Clinics between 1960 and June 2001. Data were collected prospectively and analyzed retrospectively. RESULTS: There were 73 of 1,051 patients (7%) with CF diagnosed in adulthood. Over time, an increasing number and proportion of patients received a diagnosis in adulthood: 27 patients (3%) before 1990, compared to 46 patients (18%) after 1990 (p < 0.001). The mean sweat chloride level was lower for those with CF diagnosed as adults, compared to those with a diagnosis as children (75 +/- 26 mmol/L and 100 +/- 19 mmol/L, respectively; p < 0.001) [mean +/- SD], and adults were more likely to have pancreatic sufficiency (PS) than children (73% vs 13%, respectively; p < 0.0001). In 46 adults who received a diagnosis since 1990, the reason for the initial sweat test was pancreatitis (2 patients, 4%), pulmonary symptoms (18 patients, 39%), pulmonary and GI symptoms (10 patients, 22%), infertility (12 patients, 26%), and genetic screening (4 patients, 9%). Other manifestations were biliary cirrhosis (one patient) and diabetes mellitus (four patients, 9%). The diagnosis could be confirmed by sweat test alone in 30 of 46 patients (65%), by mutation analysis alone in 15 patients (33%), and by a combination in 31 patients (67%). Nasal potential difference (PD) measurements alone confirmed the diagnosis in the remaining 15 patients (33%). CONCLUSION: Patients with CF presenting in adulthood often have PS, inconclusive sweat test results, and a high prevalence of mutations that are not commonly seen in CF diagnosed in childhood. Although most patients have lung disease of variable degrees, single-organ manifestations such as congenital bilateral absence of the vas deferens and pancreatitis are seen. Repeated sweat tests and extensive mutation analysis are often required. Nasal PD may aid the diagnosis, but has not been standardized for clinical diagnosis.
Adult↗
Heat stress evaluation of anti-exposure flight garments.
Constant-wear anti-exposure suit ensembles, employing a polytetrafluoroethylene (PTFE) coverall, were evaluated for their impact on aircrew performance under heat stress. Conditions were designed to simulate stresses experienced by aircrews during aircraft operations over cold water; therefore, chamber temperatures were maintained at dry bulb temperature = 34.0 +/- 1.5 degrees C and wet bulb temperature = 23.9 +/- 4.5 degrees C. Six subjects were studied twice in each of five configurations, i.e., a standard flight ensemble (control), and four combinations of the PTFE coverall with different liners, for maximum 180-min exposures. Subjects alternated periods of physical work, performance of a psychomotor task, and rest, for a total time of 20 min in each activity cycle, which were repeated throughout the duration of a trial, at an estimated mean metabolic rate of 2.4 kcal.min-1. Mean test duration for the control was 177 +/- 9 min, while for the other configurations, mean test durations were 105 +/- 32 min, with no significant differences observed between the PTFE-based configurations. Total sweat rate (SRT), heat storage rate (S), final heart rate (HR), and mean weighted skin temperature (Tsk) indicated similar trends among configurations, with significant differences principally observed as a consequence of the use of the PTFE coverall. Use of the PTFE coverall appears to limit heat tolerance to less than 3 h if a moderate workload is imposed under heat stress.
Adult↗
Sweat testing of MDMA with the Drugwipe analytical device: a controlled study with two volunteers.
Rapid on-site tests for the analysis of drugs of abuse in unconventional specimens (e.g., sweat) have recently been developed. Two healthy volunteers familiar with the effects of methylenedioxymethamphetamine (MDMA) were given 100 mg of the drug as a single oral dose. MDMA and its main metabolite 4-hydroxy-3-methoxymethamphetamine (HMMA) were determined in plasma and urine by gas chromatography-mass spectrometry (GC-MS). MDMA was also investigated in sweat with the Drugwipe (an immunochemical strip test). Subjects' armpits were swabbed for 10 s at 0 time (predose) and at 2, 6, 8, 12, and 24 h after MDMA administration. MDMA consumption could be detected using Drugwipe at 2 h and for as long as 12 h after drug administration. However, in one of the volunteers, a faint color change appeared at 0 time, when plasma and urine tested negative for MDMA and did not disappear even 48 h later. Plasma concentrations of MDMA and HMMA measured by GC-MS peaked at 2-4 h, and values greater than 20 ng/mL for MDMA and of 40 ng/mL for HMMA were still detected at 24 h. Urine tested positive by GC-MS for MDMA and HMMA in the 48-h collection period. These findings preliminarily support sweat testing with Drugwipe for monitoring MDMA use.
Humans↗
Predictors of Pneumocystis carinii pneumonia in HIV-infected persons. Pulmonary Complications of HIV Infection Study Group.
The Pulmonary Complications of HIV Infection Study is a prospective, multicenter, observational study evaluating pulmonary disease among HIV-infected persons. For approximately 52 mo, 1,182 HIV-infected subjects were followed. All participants were evaluated for pulmonary disease on a predetermined schedule. There were 145 episodes of Pneumocystis carinii pneumonia (PCP). Low CD4 count correlated with risk of PCP (p < 0.0001); 79% had CD4 counts less than 100/microl and 95% had CD4 counts less than 200/microl. Subtle changes in diffusing capacity for carbon monoxide (DLCO) were associated with PCP. Univariate analysis identified recurrent undiagnosed fevers, night sweats, oropharyngeal thrush, and unintentional weight loss to be associated with risk among persons with CD4 counts above 200/microl. Subjects in whom CD4 counts declined to below 200/microl and who were not receiving preventive therapy were nine times more likely to develop PCP within 6 mo compared with subjects who received such therapy. A strong trend toward differences between the sexes was detected. Black subjects had less than one third the risk of developing PCP as did white subjects (p < 0.0001). There was no significant difference in risk by HIV transmission category, study site, frequency of follow-up, age, education, smoking history, or use of antiretroviral therapy. Multivariable analysis revealed low CD4 lymphocyte count (p < 0.0001), use of prophylaxis (p < 0.0001), racial differences (p < 0.0001), and declining DLCO (p = 0.015) to influence risk. Constitutional signs and symptoms indicate increased risk for PCP among HIV-infected persons with CD4 counts above 200/microl.
AIDS-Related Opportunistic Infections↗
A phase I randomized, multicenter trial of CPX in adult subjects with mild cystic fibrosis.
CPX (8-cyclopentyl-1,3-dipropylxanthine) is a novel compound currently under development as a potential treatment for cystic fibrosis (CF). The drug has been shown to increase chloride efflux and CFTR trafficking in vitro in CF airway cells. This phase I multicenter, single-dose, placebo-controlled trial was performed at four institutions. Thirty-seven subjects homozygous for the Delta F(508) allele were studied in an escalating dose protocol of seven single-dose cohorts (1, 3, 10, 30, 100, 300, and 1,000 mg) to evaluate the safety, pharmacokinetics, and efficacy of CPX. Efficacy was determined using nasal transepithelial potential difference and sweat chloride measurements prior to dosing and at 1, 2, and 4 hr postdose. The incidence of adverse events in the treatment group was similar to that with placebo, indicating safety of the single doses studied. One serious adverse event (an acute pulmonary exacerbation) occurred 13 days after dosing, and was not considered related to the study drug. The maximal plasma CPX concentration and total amount of CPX absorbed appeared to be linearly related to dose, but was highly variable throughout the dose range studied, suggesting inconsistent absorption. There was no apparent effect of single-dose administration on either nasal transepithelial potential difference or sweat chloride measurements. The positive safety and pharmacokinetic findings of this study support continued development of CPX as a potential therapeutic for CF.
Adolescent↗
Plasma, oral fluid and sweat wipe ecstasy concentrations in controlled and real life conditions.
In a double-blind placebo controlled study on psychomotor skills important for car driving (Study 1), a 75 mg dose of +/- 3,4-methylenedioxymethamphetamine (MDMA) was administered orally to 12 healthy volunteers who were known to be recreational MDMA-users. Toxicokinetic data were gathered by analysis of blood, urine, oral fluid and sweat wipes collected during the first 5h after administration. Resultant plasma concentrations varied from 21 to 295 ng/ml, with an average peak concentration of 178 ng/ml observed between 2 and 4h after administration. MDA concentrations never exceeded 20 ng/ml. Corresponding MDMA concentrations in oral fluid, as measured with a specific LC-MS/MS method (which required only 50 microl of oral fluid), generally exceeded those in plasma and peaked at an average concentration of 1215 ng/ml. A substantial intra- and inter-subject variability was observed with this matrix, and values ranged from 50 to 6982 ng/ml MDMA. Somewhat surprisingly, even 4-5h after ingestion, the MDMA levels in sweat only averaged 25 ng/wipe. In addition to this controlled study, data were collected from 19 MDMA-users who participated in a driving simulator study (Study 2), comparing sober non-drug conditions with MDMA-only and multiple drug use conditions. In this particular study, urine samples were used for general drug screening and oral fluid was collected as an alternative to blood sampling. Analysis of oral fluid samples by LC-MS/MS revealed an average MDMA/MDEA concentration of 1121 ng/ml in the MDMA-only condition, with large inter-subject variability. This was also the case in the multiple drug condition, where generally, significantly higher concentrations of MDMA, MDEA and/or amphetamine were detected in the oral fluid samples. Urine screening revealed the presence of combinations such as MDMA, MDEA, amph, cannabis, cocaine, LSD and psilocine in the multiple-drug condition.
Adult↗
Benefit of heat acclimation is limited by the evaporative potential when wearing chemical protective clothing.
Heat acclimation-induced sweating responses have the potential of reducing heat strain for chemical protective garment wearers. However, this potential benefit is strongly affected by the properties of the garment. If the clothing ensemble permits sufficient evaporative heat dissipation, then heat acclimation becomes helpful in reducing heat strain. On the other hand, if the garment creates an impenetrable barrier to moisture, no benefit can be gained from heat acclimation as the additional sweating cannot be evaporated. Ten subjects were studied exercising on a treadmill while wearing two different chemical protective ensembles. Skin heat flux, skin temperature, core temperature, metabolic heat production and heart rate were measured. It was found that the benefit of heat acclimation is strongly dependent on the ability of the body to dissipate an adequate amount of heat evaporatively. The evaporative potential (EP), a measure of thermal insulation modified by moisture permeability, of the clothing ensemble offers a quantitative index useful to determine, a priori, whether heat acclimation would be helpful when wearing protective clothing system. The data show that when EP is < 15%, heat acclimation affords no benefit. An evaporative potential graph is created to aid in this determination.
Acclimatization↗
Missing Cl conductance in cystic fibrosis.
The specific conductance of the epithelium of the reabsorptive duct of the human eccrine sweat gland was determined by cable analysis of microperfused segments of the duct taken from normal (N) and cystic fibrosis (CF) subjects. Conditions were designed to compare the total conductance and relative contributions of Cl, Na, and residual ion conductance components in the two populations. The total conductance (Gt) of the N ducts was 125 +/- 14 mS/cm2, which was sixfold higher than the Gt of CF ducts. Removal of Cl from the media decreased Gt of the N ducts to the same value as that of the CF ducts (15 +/- 2 mS/cm2). Addition of amiloride to the Cl-free perfusate resulted in a further decline in Gt of approximately 5 mS/cm2 in both tissues. However, the effect of amiloride on Gt of the N duct was more than an order of magnitude greater in Cl-containing than in Cl-free media, but its effect on Gt of the CF duct (with or without Cl) was the same as on that of the N duct in Cl-free media. We conclude that the Cl impermeability that is characteristic of the CF tissue is due to the almost complete absence of an electrodiffusive shunt for Cl across this epithelium, while the remaining conductance components are probably not altered.
Amiloride↗
ELECTROENCEPHALOGRAMS OF PATIENTS WITH CYSTIC FIBROSIS.
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Adolescent↗
Nasal potential difference in cystic fibrosis patients presenting borderline sweat test.
The diagnosis of cystic fibrosis (CF) can be difficult if the sweat test and routine deoxyribonucleic acid (DNA) analysis are inconclusive. Under these circumstances, measurement of nasal potential difference (NPD) was proposed as a complementary diagnostic tool, as demonstrated in subjects bearing the G551S or 3849+10KbC-->T mutations. The purpose of the present study was to verify the diagnostic value of this technique in CF patients with a borderline sweat test. NPD was measured in 18 patients with a borderline sweat test, in whom CF diagnosis was based on the presence of one CF gene mutation in each chromosome (CF borderline). These patients were compared both to non-CF controls and CF patients with an abnormal sweat test (CF controls). Basal NPD values of CF borderline patients (mean value -39+/-6 mV, range -29 to -52 mV; n=18) were in the pathological range of CF controls (-39+/-8 mV, range -28 to -57 mV; n=37), and both were statistically different from values obtained in non-CF controls (-15+/-4 mV, range -6 to -23 mV; n=24; p<0.0001). Mutation analysis confirmed a high frequency of the 3849+10KbC-->T mutation in this group of CF borderline patients (positive in 14 out of 18 subjects), whereas other mutations, such as AF508, Q552X, N1303K and R1162X, were also found to be associated with this atypical CF phenotype. These results confirm the presence of pathological values of basal NPD in CF patients with borderline sweat test, and also extend this finding to subjects bearing genotypes other than the G551S and 3849+10KbC-->T mutations. The present findings, therefore, confirm the usefulness of measurement of basal nasal potential difference in all those patients in whom diagnosis of cystic fibrosis can be suspected but the sweat test remains inconclusive.
Adolescent↗
Sweat testing in opioid users with a sweat patch.
For many years, toxicologists have detected the presence of drugs of abuse in biological materials using blood or urine. In recent years, remarkable advances in sensitive analytical techniques have enabled the analysis of drugs in unconventional samples such as sweat. In a study conducted in a detoxification center, sweat patches were applied to 20 known heroin abusers. Subjects wore the patch with minimal discomfort for five days. During the same period, two urine specimens were also collected. Target drugs analyzed either by gas chromatography-mass spectrometry (GC-MS) or liquid chromatography-mass spectrometry (LC-MS) included opiates (heroin, 6-monoacetylmorphine, morphine, codeine), cocaine (cocaine, benzoylecgonine, ecgonine methyl ester), delta 9-tetrahydrocannabinol, benzodiazepines (nordiazepam, oxazepam), amphetamines (amphetamine, methamphetamine, methylenedioxyamphetamine [MDA], methylenedioxymethamphetamine [MDMA], methylenedioxyethylamphetamine [MDEA]), and buprenorphine. Patches were positive for opiates in 12 cases. Heroin (37-175 ng/patch) and/or 6-acetylmorphine (60-2386 ng/patch) were identified in eight cases, and codeine exposure (67-4018 ng/patch) was determined in four cases. When detected, heroin was always present in lower concentrations than 6-acetylmorphine, which was the major analyte found in sweat. Cocaine (324 ng/patch) and metabolites were found in only one case. delta 9-Tetrahydrocannabinol (4-38 ng/patch) was identified in nine cases. Benzodiazepine concentrations were very low, ranging from 2 to 44 and from 2 to 15 ng/patch for nordiazepam and oxazepam, respectively. MDEA (121 ng/patch) and its metabolite, MDA (22 ng/patch), were detected in one case. Buprenorphine, which was administered as therapy under close medical supervision, was detected in the range 1.3-153.2 ng/patch with no apparent relationship between the daily dose and amount excreted in sweat. All the urine tests were consistent with the sweat findings, but to identify the same drugs it was necessary to test two urine specimens along with only one sweat specimen. It was concluded that sweat testing appears to offer the advantage of being a relatively noninvasive means of obtaining a cumulative estimate of drug exposure over the period of a week. This new technology may find useful applications in the treatment and monitoring of substance abusers, as the patch provides a long-term continuous monitor of drug exposure or noncompliance.
Amphetamines↗
Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.
We report on a 10-month-old boy with hypotonic dehydration and metabolic alkalosis. Sweat test was borderline and genetic analysis was negative for common mutations. Analysis of the whole coding regions of the CFTR gene revealed the rare mutation D579G in homozygosity.
Alkalosis↗