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PubMed1988

Prenatal diagnosis of cystic fibrosis by chorionic villus sampling using 12 polymorphic deoxyribonucleic acid markers.

This report describes the application of a genetic prenatal diagnostic test for cystic fibrosis to a family with a cystic fibrosis-affected child. The test uses 12 deoxyribonucleic acid (DNA) markers that bracket the cystic fibrosis gene on chromosome 7, and chorionic villus tissue as a source of DNA from the fetus at risk for cystic fibrosis. The fetus was predicted by DNA analysis to be unaffected (although a carrier of one cystic fibrosis gene); this diagnosis was confirmed postnatally by the standard sweat electrolyte test. The genetic linkage test is informative in more than 99% of families with cystic fibrosis-affected members and is also useful for determination of carrier status. The test is both more informative and more accurate than one based upon the markers Met and D7S8 (J3.11) alone. The analysis can be done directly from chorionic villus tissue, and therefore can provide a diagnosis as early as nine to 12 weeks after conception.

Adult↗
PubMedDate not supplied

Diagnosis of cystic fibrosis: Indian perspective.

Cystic fibrosis (CF) is one of the common life limiting inherited diseases in Caucasian population. Recent reports suggest that the diagnosis of cystic fibrosis in Indian children is missed or delayed due to low index of suspicion. The diagnosis of cystic fibrosis is suspected by the typical clinical features and should be confirmed by doing sweat chloride estimation. If sweat test is not available, ancillary tests including blood electrolyte and acid base balance, airway microbiology, tests to identify pancreatic insufficiency and semen analysis for obstructive azoospermia in post pubertal boys should be carried out. Positive results of these tests make the suspicion very strong. A strongly suspected case should be treated as cystic fibrosis, but for giving a diagnosis of CF, sweat test should be done from the nearest centre where it is available. In the presence of typical clinical features with borderline sweat chloride values sweat test should be repeated 2-3 times and the child should be investigated for alternative diagnosis. In the absence of alternative diagnosis with consistently high or borderline sweat chloride values an attempt should be made to get tests for mutations.

Child↗
PubMed1997

Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.

Cystic fibrosis (CF) has a high incidence in the French-Canadian population of Saguenay Lac-Saint-Jean (Quebec). The A455E mutation accounts for 8.3% of the CF chromosomes. This mutation was shown to be associated with a milder lung disease in the Dutch population. Twenty two CF patients distributed in 17 families and compound heterozygotes for the A455E mutation have been followed at the Clinique de Fibrose Kystique de Chicoutimi. Fourteen patients also carried the delta F508 mutation while the remaining eight patients had the 621 + 1G-->T mutation. Each patient was matched by sex and age to a patient homozygous for the delta F508 mutation. The pairs were analyzed for several clinical and laboratory variables. The A455E compound heterozygotes were diagnosed at a later age (P = 0.003) and had chloride concentrations at the sweat test lower than those homozygous for the delta F508 mutation (P = 0.007). More patients were pancreatic sufficient (P = 0.004). They had a higher Shwachman score (P = 0.001) and better pulmonary function tests (P < 0.02). CF patients compound heterozygous for the A455E mutation have a milder pancreatic and lung disease than the delta F508 homozygotes. Therefore, the A455E should be associated with a better prognosis.

Adolescent↗
PubMed1998

Small cell sweat gland carcinoma in childhood.

Sweat gland carcinomas are rare skin tumors that typically occur in older patients. The spectrum of their clinical and pathologic features is broad, and many different types of sweat gland carcinomas have been described, ranging from fairly indolent to highly aggressive neoplasms. We present two cases of sweat gland carcinoma with a predominant small cell morphology. Both tumors occurred in children. One lesion developed in an 8-year-old girl as an asymptomatic papule on her left forearm, which ultimately was evaluated using biopsy because of rapid growth and change in color. The other lesion occurred on the hand of a 12-year-old boy. Both tumors were pandermal and extended into fat. They were composed of monotonous cuboidal cells with scant cytoplasm that formed tubules and grew in anastomosing cords and trabeculae. The tumor cells were immunoreactive for cytokeratins but not for cytokeratin 20. Ultrastructural analysis (available in one case only) showed that the tumor cells lacked neurosecretory granules. This variant of sweat gland carcinoma needs to be distinguished from other small cell neoplasms of the skin, especially Merkel cell carcinoma, its closest mimic.

Biopsy↗
PubMed1990

The relative influence of physical fitness, acclimatization state, anthropometric measures and gender on individual reactions to heat stress.

An experiment was set up to quantify the relative influence of fitness, acclimatization, gender and anthropometric measures on physiological responses to heat stress. For this purpose, 12 male and 12 female subjects were exposed to a neutral [ambient temperature (Ta) 21 degrees C, relative humidity (r.h. 50%)], a warm, humid (Ta 34 degrees C, r.h. 80%) and a hot, dry (Ta 45 degrees C, r.h. 20%) climate at rest and at two exercise intensities [25%, and 45% maximal O2 intake (VO2max)], seated seminude in a net chair behind a cycle ergometer. Their physiological responses were recorded and the data submitted to a multiple regression analysis. It was shown that for the variance in heat storage, the percentage of body fat and the surface to mass ratio had relatively the largest influence of all the individual parameters, followed by VO2max and the sweat rate versus increase in core temperature (total r2 = 92%). For the skin temperature variation, the relative influence of individual parameters (sweat gain, VO2max) was small. For body core temperatures, individual parameters had a large influence. The largest effect was due to the percentage of fat and the surface to mass ratio, followed by the sweating setpoint and, finally, VO2max (total r2 = 54%-70%). For the variance in heart rate the VO2max was the most relevant parameter, followed by the setpoint of the sweat rate:rectal temperature relationship (total r2 = 88%). Blood pressure and skin blood flow predictions were also shown to improve by the addition of individual characteristics to the model.(ABSTRACT TRUNCATED AT 250 WORDS)

Acclimatization↗
PubMed2001

Video-assisted thoracoscopic T2 sympathetic block by clipping for palmar hyperhidrosis: analysis of 52 cases.

BACKGROUND: Endoscopic thoracic sympathectomy or sympathicotomy is a standard method in treating palmar hyperhidrosis, but postoperative compensatory sweating may be troublesome in some patients. Therefore, we designed a new technique for only T2 sympathetic blocking by clipping instead of interruption of the sympathetic trunk. PATIENTS AND METHODS: Between September 2000 and July 2001, we saw a total of 100 patients with palmar hyperhidrosis who underwent video-assisted thoracoscopic sympathetic blocking of the T2 ganglion. All patients were placed in a semisitting position under single-lumen intubated anesthesia. We performed sympathetic blocking by clipping of the T2 ganglion at the level of the second and third rib beds using an 8-mm, 0 degree thoracoscope (Storz). RESULTS: We supposed that the postoperative improvement in palmar hyperhidrosis would be perfect. The operation could be accomplished within 30 minutes. All patients were discharged within 4 hours after the operation. Surgical complications were minimal, without surgical mortality. A few patients were willing to receive the reverse operation and should get improvement of compensatory sweating after removal of the endo clips. CONCLUSION: We believe that video-assisted thoracoscopic T2 sympathetic block by clipping will be a safe and effective method of treating patients with palmar hyperhidrosis. Compensatory sweating may be improved by the reverse operation: removal of the endo clip.

Adolescent↗
PubMed2002

Prevalence of night sweats in primary care patients: an OKPRN and TAFP-Net collaborative study.

OBJECTIVE: To estimate the prevalence and factors associated with night sweats among adult primary care patients. STUDY DESIGN: This was a cross-sectional study. POPULATION: Adult patients in 2 primary care practice-based research networks (PBRNs) during 1 week in the summer and 1 week in the winter in the years 2000 and 2001. OUTCOME MEASURES: We measured the prevalence of pure night sweats and night and day sweats in all patients and subgroups defined by age and sex, clinical variables associated with night sweats, and the frequency, severity, and rate of reporting. RESULTS: Of the 2267 patients who participated, 41% reported experiencing night sweats within the last month, including 23% with pure night sweats and an additional 18% with day and night sweats. The prevalence of night sweats in both men and women was highest in the group aged 41 years to 55 years. In multivariate analyses, factors associated with pure night sweats in women were hot flashes and panic attacks; in men, sleep problems. Variables associated with night and day sweats in women were increased weight, hot flashes, sleep disturbances, use of antihistamines, selective serotonin reuptake inhibitors (SSRIs), and other (non-SSRI, non-tricyclic) antidepressants; in men, increased weight, hot flashes, and greater alcohol use. A majority of patients had not reported their night sweats to their physicians, even when frequent and severe. CONCLUSIONS: Night sweats are common and under-reported. Pure night sweats and night and day sweats may have different causes. With regard to the etiologies of pure night sweats, panic attacks and sleep disorders need further investigation.

Adult↗
PubMed2005

Low and high frequency acupuncture stimulation inhibits mental stress-induced sweating in humans via different mechanisms.

The effects of acupuncture stimulation at 5 Hz and 100 Hz on mental stress-induced sweating were analyzed, and the mechanisms involved were examined using the rate of sweat expulsion as an estimate of central sudomotor outflow. Mental arithmetic was imposed on 25 young healthy volunteers for 2 min before, during and after the stimulation. Acupuncture stimulation was delivered to either the Zusanli (leg) or Hegu (hand) acupoint, and the sweat rate was measured quantitatively during mental arithmetic on the palm or the sole, respectively. When stimulation at 5 Hz was applied to the Zusanli acupoint, the palmar sweat rate (paSR), rate of sweat expulsion (Fsw) and paSR/Fsw were reduced during the stimulation, whereas when it was applied to the Hegu acupoint, plantar SR (plSR) and Fsw were reduced, but plSR/Fsw was not altered. When stimulation at 100 Hz was applied to Zusanli, paSR and paSR/Fsw were reduced, but Fsw was unchanged whereas when it was applied to Hegu, neither plSR, Fsw nor plSR/Fsw was altered. The results suggest that acupuncture stimulation at 5 Hz affects both the supraspinal rhythm-generating mechanism and the mechanisms situated below (probably the spinal cord), whereas stimulation at 100 Hz only affects the mechanisms below the rhythm-generating mechanism. Thus, acupuncture stimulation at 5 Hz and at 100 Hz may reduce mental stress-induced sweating through different mechanisms.

Acupuncture↗
PubMed2006

Effects of water intake on the responses of haemorheological variables to resistance exercise.

To examine the effects of drinking an amount of water equal to weight loss on the responses of blood rheological variables, eleven healthy male subjects performed three resistance exercise trials. The aim of the first session was to determine the amount of weight loss following a resistance exercise trial at 80% of one repletion maximum (1RM). In the second and third sessions subjects performed the same resistance exercise protocol without and with drinking an amount of water equal to that recorded for body weight loss. Three venous blood samples were taken before exercise, immediately after exercise, and at the end of 30-min recovery and were analysed for haematocrit (Hct), haemoglobin (Hb), blood cells count and the main determinant of blood rheology. Haematocrit, plasma viscosity, fibrinogen, albumin, and total protein were significantly increased in response to resistance exercise and returned to pre-exercise level following 30-min of recovery. The changes in blood rheological variables in response to resistance exercise occurred similarly in both control and water trials with no significant difference being observed between trials. Plasma volume loss through sweating and respiratory tract during resistance exercise could have contributed to the decrease in plasma volume, though, this contribution was negligible. Therefore, it is concluded that the increases in blood rheological variables in response to resistance exercise are mainly due to plasma shifts from intravascular space to extravascular spaces rather than plasma volume loss through sweating and respiratory tract.

Adult↗
PubMed2006

Menopausal symptoms and associated risk factors among postmenopausal women screened for the metabolic syndrome.

BACKGROUND: Although the frequency of menopausal symptoms may vary according to the studied population, in general severe intensity has been related to lower quality of life. OBJECTIVE: To assess the frequency of menopausal symptoms and involved risk factors in an Ecuadorian postmenopausal population. METHODS: Postmenopausal women that participated in a metabolic syndrome screening program were interviewed with the Menopause-specific quality of life questionnaire (MENQOL) in order to determine the most frequently presenting menopausal symptoms and correlate these symptoms with socio-demographic data and the main results of the screening program. RESULTS: Three hundred and twenty-five postmenopausal women (n = 325) were surveyed with the MENQOL. Mean age of participants was 55.9 +/- 8.1 years (median: 54 years). The most frequently presenting symptoms were: hot flushes (53.3%), sweating (49.2%), poor memory (80.6%), feeling depressed (67.4%), aching in muscles and joints (84%), drying of their skin (85.5%), avoiding intimacy (76.2%) and change in their sexual desire (76.5%). Multivariate analysis determined that abdominal obesity was a significant risk factor for presenting hot flushes, depression and muscle and joint pain. High triglyceride levels were associated to higher rates of sweating and depression. While women with basal hyperglycemia were associated to dry skin and changes in sexual desire in a higher proportion, those who were older and with more years of menopause onset were related less frequently to vasomotor symptoms. Older age was also significantly associated in a higher rate to dry skin. CONCLUSION: In this postmenopausal Ecuadorian population, the frequency of menopausal symptoms, as assessed with the MENQOL, was found to be relatively similar to other Latin and non-Latin American populations and associated to age, hormonal status and related metabolic conditions.

Adult↗
PubMed1985

Protracted diarrhea in infancy: clinical aspects and ultrastructural analysis of the small intestine.

Protracted diarrhea is a clinical entity characterized by diarrhea lasting greater than 2 weeks, starting before 3 months of age, with severe nutritional aggravation and negative stool culture for enteropathogens. This report deals with the ultrastructural abnormalities found in the intestinal mucosa of children with protracted diarrhea. Forty children (mean age 5.1 months) were studied. They were submitted to the following tests of intestinal function: D-xylose, triglyceride tolerance, small bowel biopsy (light and electron microscope), sigmoidoscopy, and sweat test. D-Xylose absorption and triglyceride tolerance test in these patients were both significantly lower than controls. Ultrastructural analysis of the small bowel of 12 patients showed various degrees of alterations, mainly shortening of the microvilli, increased number of multivesicular bodies, and vacuolation of mitochondria and endoplasmic reticulum. These lesions were totally reversible after clinical and nutritional recovery as could be proven in two children. The most common cause of protracted diarrhea in these patients was secondary carbohydrate intolerance and dietary protein cow's milk and soy bean intolerance, which resulted in colitis or malabsorption as a consequence of intestinal mucosa injury due to acute gastroenteritis.

Absorption↗
PubMed1988

Nitrogen mustard, vincristine, procarbazine, and prednisolone for relapse after radiation in Hodgkin's disease. An analysis of long-term follow-up.

One hundred and sixty-one patients who were treated with nitrogen mustard, vincristine, procarbazine, and prednisolone (MOPP) chemotherapy for Hodgkin's disease have been observed for a median of 10.2 years. Eighty-two percent of those patients received MOPP after relapse from previous irradiation. The complete response (CR) rate was 71%. For the 116 patients achieving CR the relapse-free survival at 5 years was 83% and at 10 years, 79%. The overall survival was 72% at 5 years and 64% at 10 years. In a stepwise logistic regression analysis the most important clinical factors influencing response were B symptoms at presentation (fever greater than 38 degrees C, night sweats, weight loss greater than 10% of body weight), histologic subtype, and lung or pleural involvement. Patients who received MOPP as first-line therapy had a significantly worse response rate than those who received MOPP upon relapse after radiotherapy. This difference is reduced when adjustments are made for the presence of the above prognostic factors. A Cox regression analysis showed that Stage IV at presentation and lymphocyte-depleted histology were the most important factors indicating reduced survival. Patients who achieved a CR to MOPP had a significantly improved survival. Of the 65 patients who had died at the time of the analysis of this series, 46 died of progressive Hodgkin's disease. All four patients who developed secondary acute nonlymphocytic leukemia had received radiation as well as MOPP.

Adolescent↗
PubMed1999

Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis.

In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H. The diagnosis of CF adversely affected the family's emotional, employment, and financial statuses. Our evaluation included sweat chloride, nasal transepithelial potential difference, and bronchoscopy with bronchoalveolar lavage measurements, all which were consistent with findings expected from an individual without CF. Genotype analysis for the sequence polymorphism in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed the 7 thymidines and 9 thymidines alleles. We conclude that this patient probably expresses enough epithelial cell surface CFTR function such that she has a normal phenotype. Based on our evaluation, she does not meet the current diagnostic criteria for CF. Although genotype analysis can be an useful adjunct, it should not be the sole diagnostic criterion for CF.

Chlorides↗
PubMed2006

Factors associated with pulmonary edema in severe scorpion sting patients--a multivariate analysis of 428 cases.

OBJECTIVE: To determine clinical and routine laboratory factors associated with pulmonary edema secondary to scorpion envenomation. DESIGN AND SETTING: Retrospective study covering 13 years (1990-2002) in the medical Intensive Care Unit of a university hospital (Sfax-Tunisia). PATIENTS: 428 patients older than 3 years who were admitted to the intensive care unit for scorpion envenomation were included in this study. Patients were stratified into two groups according to the presence or absence of pulmonary edema as assessed by a medical committee. MEASUREMENTS AND RESULTS: The mean (+/- SD) age was 17.5 +/- 17.7 years, ranging from 3 to 76 years. The pulmonary edema group included 294 patients (68.7%). A multivariate analysis found the following factors to be correlated with a pulmonary edema: age less than 5 years (p = 0.04), sweating (p = 0.004), agitation (p = 0.01), leukocytes of 25000 cells/mm3 or more (p = 0.02), and a plasma protein concentration of 72 g/L or more (p < 0.0001). In addition, a plasma protein concentration of 72 g/L or more predicted the presence of pulmonary edema with a sensitivity of 78% a specificity of 88%, a positive predictive value of 93%, and negative predictive value of 64%. Almost 84% of patients having a respiratory rate of > or = 30 breaths/minute associated with agitation and sweating were classified in the pulmonary edema group. This clinical association indicates the presence of pulmonary edema with a specificity of 84.3% and a positive predictive value of 87.5%. CONCLUSION: In scorpion envenomation patients older than 3 years, the association of a respiratory rate of > or = 30 breaths/minute, agitation, sweating, or the presence of high plasma protein concentrations suggest the presence of pulmonary edema.

Adolescent↗
PubMed1995

Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease.

A 13 month old boy was found to have severely reduced beta-galactocerebrosidase activity suggesting infantile Krabbe disease. Clinically, the patient showed a progressive neurological deterioration with white-matter disease on radiological study. Axillary skin biopsy was performed to support the diagnosis. On electron microscopy, needle-like inclusions, which are the typical finding seen in the cytoplasm of astrocytes and Schwann cells in the classic infantile form, were present in eccrine sweat gland epithelial cells. This method is useful for diagnosis when nerve biopsy and biochemical analysis are not readily available.

Eccrine Glands↗
PubMed1994

Cephalometric analysis of Rapp-Hodgkin syndrome.

Rapp-Hodgkin syndrome (RHS) is a rare form of ectodermal dysplasia with variable involvement of the hair, eyes, sweat glands, nails, and teeth. Oral findings may include hypodontia, hypoplastic enamel, cleft lip/palate, and a pronounced midfacial hypoplasia. The objective of this study was to determine if the pronounced midfacial hypoplasia is the result of a true tissue hypoplasia or displacement of midfacial tissues. We have identified a family in which three members, a mother and two daughters, display clinical features characteristic of RHS. Clinical and intraoral examination of these affected persons showed manifestations characteristic of RHS, and several new findings were observed, including subcutaneous abscesses, palmoplantar keratosis, and keratotic lesions located on the chest and trunk. To assess the midfacial hypoplasia, lateral cephalometric analysis was performed on lateral headplates. Results of the cephalometric analysis suggest that the midfacial hypoplasia results from both a deficiency and a displacement of the maxilla. These findings are significant because successful dental treatment of RHS relies upon accurate assessment of current and projected orofacial development, particularly for the skeletal relations of the maxilla and mandible.

Adolescent↗