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At least 289 records · Page 16Linked to original sources
PubMed2002

Different morphotypes of the tabby (EDA) dentition in the mouse mandible result from a defect in the mesio-distal segmentation of dental epithelium.

OBJECTIVES: Prenatal identification of the different dentition morphotypes, which exist in the lower molar region of tabby (Ta) adult mice, and investigation of their origin. The mouse Ta syndrome and its counterpart anhidrotic (hypohidrotic) ectodermal dysplasia (EDA) in human are characterized by absence or hypoplasia of sweat glands, hair and teeth. DESIGN: Analysis of tooth morphogenesis using serial histological sections and 3D computer aided reconstructions of the dental epithelium in the cheek region of the mandible. SETTING AND SAMPLE POPULATION: Institute of Experimental Medicine, Academy of Sciences, Prague. Heads of 75 Ta homozygous and hemizygous mice and 40 wild type (WT) control mice aged from embryonic day (ED) 14.0-20.5 (newborns), harvested during 1995-2001. OUTCOME MEASURE: Prenatal identification of five distinct morphotypes of Ta dentition on the basis of differences in tooth number, size, shape, position and developmental stage and of the morphology of the enamel knot in the most mesial tooth primordium. RESULTS: The mesio-distal length of the dental epithelium was similar in the lower cheek region in Ta and WT mice. In Ta embryos, there was altered the mesio-distal segmentation of the dental epithelium giving rise to the individual tooth primordia. Prenatally, two basic morphotypes I and II and their particular subtypes (Ia, Ib, Ic, and IIa, IIb, respectively) of the developing dentition were identified from day 15.5. The incidence of the distinct morphotypes in the present sample did not differ from postnatal data. The proportion of the morphotype I and II was dependent on mother genotype. CONCLUSION: The different dentition morphotypes in Ta mice originate from a defect in the mesio-distal segmentation of the dental epithelium in mouse embryos. This defect presumably leads to variable positions of tooth boundaries that do not correspond to those of the WT molars. One tooth primordium of Ta mice might be derived from adjacent parts of two molar primordia in WT mice.

Animals↗
PubMed1982

The effects of spacing protein intake on nitrogen balance and plasma amino acids in a child with propionic acidemia.

The effect of protein distribution on nitrogen balance and the plasma aminogram was studied in a 34-month-old male child with propionic acidemia. Protein provided 4.8% of energy of which high biological value protein was given either as a bolus or evenly distributed in three meals per day. Analysis of nitrogen balance including estimated sweat nitrogen losses revealed no major difference between the two diets. No marked differences in the fasting plasma concentrations of essential amino acids were noted with protein distribution. A generalized increase in concentration of all nonessential amino acids except taurine and ornithine was noted when protein was evenly distributed throughout the day. The ratio of nonessential to essential amino acids was higher after even protein distribution than when protein was given as a bolus. The data suggests that a low protein diet (206 mg nitrogen/kg/day) with adequate energy intake used in managing this child with propionic acidemia provided adequate amounts of total nitrogen and essential amino acids for normal growth regardless of protein distribution.

Amino Acid Metabolism, Inborn Errors↗
PubMed2006

Expression of cytokeratin subtypes in intraepidermal malignancies: a guide for differentiation.

BACKGROUND: Among intraepidermal malignancies of epithelial origin, Bowen's disease, bowenoid actinic keratosis (BAK), intraepidermal malignant eccrine poroma (MEP), and Paget's disease may pose diagnostic difficulties. METHODS: Histologic features and immunohistochemical profiles of 24 cases of Bowen's disease, 21 cases of BAK, 18 cases of intraepidermal MEP, and 11 cases of Paget's disease were analyzed. RESULTS: Using multivariate logistic regression test, multinuclear giant cells and solar degeneration were found to be the only histologic parameters of diagnostic help. On the other hand, a widespread positive reaction for CK 5/8, CK 7, CK 19, and negative reaction for CK 10, was a helpful feature in the differentiation of Paget's disease from Bowen's disease and BAK. The widespread and strong expression of CK 10 was seen in almost all cases of Bowen's disease in contrast to BAK. The widespread expression of CK 5/8 and CK 7, and negative reaction for CK 10, was in favor of Paget's disease, compared to intraepidermal MEP. On the other hand, widespread expression of CK 19 was a common finding in intraepidermal MEP, in contrast to Bowen's disease. CONCLUSION: An immunohistochemical panel may provide significant hints on the differentiation of common intraepidermal malignancies, especially in problematic cases.

Bowen's Disease↗
PubMed1999

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis.

Cystic fibrosis (CF) is an inheritable disorder characterized by defective epithelial chloride transport and progressive lung disease, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The subject of this study was an 8-year old Japanese boy, who developed typical CF symptoms including meconium ileus, pancreatic insufficiency, an elevated sweat chloride concentration and pulmonary disease. Analysis of the CFTR gene of this patient revealed compound heterozygous mutations in exon 11 (1742 delAC) and intron 9 (1525-18 GtoA) of the CFTR gene.

Child↗
PubMedDate not supplied

[Comparison of conductivity with sodium determination in the same sweat sample]

OBJECTIVE: To correlate sweat conductivity by Wescor with quantitative sodium determination in the same sample. METHODS: We analyzed 206 sweat samples, being 31 obtained from patients with cystic fibrosis (CF). Sweat was collected by quantitative pilocarpine iontophoresis in the Macroduct system for 30 minutes. Samples were immediately determined by Sweat-Chek analyzer (Wescor) and sodium quantification with a flame photometer. RESULTS: In non-CF subjects sweat (n=175), mean conductivity and quantitative sodium were 41mmol/L (16-75mmol/l) and 36mEq/ l (12-75mEq/l) respectively. In CF subjects (n=31), mean values of conductivity and sodium were 119mmol/L (84-155mmol/l) and 113mEq/l (80 - 146mEq/l) respectively. None of CF patients showed values lower than 80mmol/L. There was a correlation between sweat conductivity and sodium determination (r= + 0.99; p<0.0001). CONCLUSION: Sweat conductivity by Wescor simplifies the analysis with lower volumes and is well correlated to sodium concentration.

Journal Article↗
PubMed2004

Effects of 8 days acclimation on biological and performance response in a tropical climate.

BACKGROUND: This study was designed to determine the acclimation process elicited by exposure to a tropical climate. METHODS: Nine triathletes performed 3 outdoor indirect continuous running multistage tests in both thermoneutral and tropical conditions. Before travelling to the tropical area (Martinique Island, FWI), the triathletes performed the thermoneutral test (TN) in 14 degrees C and 45% rh conditions. The tropical tests were performed 2 and 8 days after arrival (T2 and T8, performed at a mean environmental temperature of 33.4 degrees C and 75.5% rh). The day before T8, blood samples were drawn for biochemical analysis. During each test, tympanic temperature, sweat rate, weight loss, heart rate (HR), and performance were recorded. RESULTS: The results demonstrated that: 1) the mean tympanic temperature was greater in T2 (p<0.001) and T8 (p<0.01) than in TN; 2) the mean sweat rate was significantly greater (p<0.001) in T2 and T8 than in TN and significantly greater in T8 than in T2 (p<0.03); 3) the weight loss after trials was significantly greater (p<0.001) in T2 and T8 than in TN and in T8 than in T2 (p<0.04); 4) the mean HR and the HR at rest were significantly greater in T2 than in TN (p<0.001) and T8 (p<0.005); 6) significant reductions were observed in T8 vs TN in red cell count (p<0.05) and plasma proteins (p<0.04), the consequence of a 7.5% plasma volume expansion; and 7) the performance was significantly lower in both T2 (p<0.02) and T8 (p<0.03) than in TN. CONCLUSIONS: We concluded that 8 days exposure to hot/wet conditions induced impairments in physiological responses and performance that were still evident on the 8th day. Further and longer outdoor studies are needed to investigate if return to optimal performance levels after adaptation to hot/wet conditions is possible.

Acclimatization↗
PubMed1997

Osmoregulatory inhibition of thermally induced cutaneous vasodilation in passively heated humans.

We examined the effect of increased plasma osmolality (P(osm)) on cutaneous vasodilatory response to increased esophageal temperature (T(es)) in passively heated human subjects (n = 6). To modify P(osm), subjects were infused with 0.9, 2, or 3% NaCl infusions (Inf) for 90 min on separate days. Infusion rates were 0.2, 0.15, and 0.125 ml.min-1.kg body wt-1 for 0.9, 2, and 3% Inf, respectively, which produced relatively similar plasma volume expansion. Thirty minutes after the end of infusion, subjects immersed their lower legs in a water bath at 42 degrees C (room temperature 28 degrees C) for 60 min after 10 min of preheating control measurements. Passive heating without infusion (NI) served as time control to account for the effect of volume expansion. P(osm) (mosmol/kgH2O) values at the onset of passive heating were 289.9 +/- 1.4, 292.1 +/- 0.6, 298.7 +/- 0.7, and 305.6 +/- 0.6 after NI, 0.9% Inf, 2% Inf, and 3% Inf, respectively. The increases in T(es) (delta T(es)) at equilibrium during passive heating (mean delta T(es) during 55-60 min) were 0.47 +/- 0.08, 0.59 +/- 0.08, 0.85 +/- 0.13, and 1.09 +/- 0.12 degrees C after NI, 0.9% Inf, 2% Inf, and 3% Inf, respectively, which indicates that T(es) at equilibrium increased linearly as P(osm) increased. delta T(es) required to elicit cutaneous vasodilation (delta T(es) threshold for cutaneous vasodilation) also increased linearly as P(osm) increased as well as the delta T(es) threshold for sweating. The calculated increases in these thresholds per unit rise in P(osm) from regression analysis were 0.044 degree C for the cutaneous vasodilation and 0.034 degree C for sweating. Thus the delta T(es) thresholds for cutaneous vasodilation and sweating are shifted to higher delta T(es) along with the increase in P(osm), and these shifts resulted in the higher increase in T(es) during passive heating.

Adult↗
PubMed2001

[Evaluation of 47,213 infants in neonatal screening for cystic fibrosis, using pancreatitis-associated protein and immunoreactive trypsinogen assays].

OBJECTIVES: The increasing evidence of the benefits of neonatal screening for cystic fibrosis (CF) indicates that this procedure could soon be implemented throughout France. The screening strategy currently used involves the detection of infants with elevated levels of immunoreactive trypsinogen (IRT) (approximately 1% of the population), followed by the detection of CFTR gene mutations. However, genetic analysis has certain drawbacks, the most important of which being the management of heterozygotes, and in France the requirement by law of previous informed consent. In cases of CF, pancreatic alterations are already present in utero. A previous study has demonstrated the value of pancreatitis-associated protein (PAP) as a screening test for CF, and has indicated that a feasible two-stage strategy could involve the following: 1) selection of infants with elevated PAP levels; 2) in this group of infants, subsequent detection of those with elevated IRT levels for direct CF diagnosis by the sweat test thereby avoiding the use of genetic analysis. The study aim was to evaluate this strategy in a large number of neonates. METHODS AND RESULTS: The aforementioned strategy was evaluated in a prospective study involving 47,213 infants in the Provence region of France. In infants with a PAP > 7.5 ng/mL (1.28%), 176 had an elevated IRT level > 700 ng/mL (0.37%). In this limited population sample (0.37% of the total), the sweat test diagnosed five cases of CF. A sixth case involving the monozygous twin of an infant with diagnosed CF remained undetected, probably because of a registration error. Genetic analysis confirmed the diagnosis, and also detected another case in an infant with two CFTR mutations but with a normal phenotype at 20 months of age. As the observed incidence was similar to that which had previously been reported, and as no further case was subsequently detected two years after the end of the study, this indicated that the sensitivity of this screening strategy was satisfactory. Its specificity makes the direct diagnosis of CF cases by the sweat test feasible, without further selection by genetic analysis. CONCLUSION: The PAP/IRT technique for CF detection seems to be suitable for mass screening, without the drawbacks of genetic testing.

Acute-Phase Proteins↗
PubMed2002

Cutaneous lymphatic amyloid deposits in "Hungarian-type" familial transthyretin amyloidosis: a case report.

Multiple transthyretin (TTR) mutations have recently been identified and implicated in the development of familial systemic amyloidoses, but early diagnosis of these disorders is still largely unresolved. We investigated the presence and tissue distribution of TTR-derived amyloid in skin biopsies of a 59-year-old woman carrying the "Hungarian-type" mutation of TTR (Asp18Gly). Clinical symptoms involved severe central nervous system dysfunction without signs of polyneuropathy, also referred to as the "central form" of TTR-related systemic amyloidosis. Skin biopsy was also evaluated as a tool in order to diagnose this type of TTR amyloidosis. Biopsy samples were collected from the infra-axillary region. Light microscopy using Congo red and polarized light was used to diagnose amyloid deposits. Subsequently, electron microscopic analysis was performed to correlate the amyloid deposits with vicinal dermal structures. The amyloid class was determined by means of immunocytochemistry. TTR amyloid was primarily localized to lymphatic microvessels in the present case, whereas arterioles were devoid of TTR amyloid deposits. In addition, the well-known association of TTR amyloid with neural structures along the erector pilorum and around the sebaceous and serosal (sweat) glands was also evident. Electron microscopic analysis of amyloid deposits revealed characteristic amyloid fibrils that were irregular in shape, and exhibited a heterogeneous density and a random deposition pattern. Immunocytochemistry confirmed the cutaneous accumulation of TTR amyloid. In conclusion, amyloid deposits were abundantly present in the skin of a patient with "Hungarian-type" TTR amyloidosis; skin biopsy seems to be appropriate for the diagnosis of this disorder. We showed that besides the erector pilorum, sweat glands and nerve terminals, lymphatic microvessels are also severely infiltrated by TTR amyloid. Whether these pathological alterations can exclusively be found in "Hungarian-type" TTR amyloidosis should still be investigated. If such changes are not specific for the Asp18Gly mutation, they may be considered as diagnostic markers for "central" TTR amyloid disorders.

Amyloidosis↗
PubMedDate not supplied

Neurodegeneration in sweat glands and skin of aged rats.

In order to compare age-associated neurodegenerative changes in peripheral nerves of laboratory mammals and humans, we have investigated the density and pattern of different nerve populations innervating sweat glands of ageing rats and compared our results with a previous study of the innervation of human sweat glands. We have also studied age-changes in subepidermal afferent nerves that may be involved in reflex activation of sweat glands. Total nerve density, measured by immunohistochemical staining for the general neuronal marker, protein gene product (PGP9.5) and image analysis, showed a significant decline around secretory coils of sweat glands of old compared to young rats. Marked reductions of acetylcholinesterase (AChE) histochemical staining and of vasoactive intestinal polypeptide (VIP)- and calcitonin gene-related peptide (CGRP)-like immunoreactivity were observed in nerves around sweat glands. In the sub-epidermis, PGP- and CGRP-like immunoreactive nerves were significantly reduced in old rats. The age-related changes in sweat gland innervation of old rats were comparable to those reported in elderly human subjects suggesting that these tissues may provide a suitable model for experimental studies of neuronal ageing.

Acetylcholinesterase↗
PubMed1995

Intracutaneous transport of orally administered fluconazole to the stratum corneum.

Fluconazole administered at 150 mg/week for 1-5 weeks is effective orally against dermatophytes and yeast in stratum corneum. Clinical and mycological cure rates approach 90%, but the precise distribution of the drug within various layers of skin is uncertain. We administered fluconazole at 150 mg/week for 2 weeks to 5 volunteers. Distribution of fluconazole in biopsies of skin was imaged by energy dispersive analysis of X-rays (EDX) and transmission electron microscopy, and in cells by electron energy-loss spectroscopy (EELS). Eight hours after a second dose, EDX showed fluconazole highest and homogeneously distributed in stratum corneum, lower in the rest of the epidermis, and lowest in dermis. The highest fluconazole levels detected by EELS were in cytoplasmic inclusions of sweat and sebaceous glands and less in keratinocytes and dermal collagen. We conclude that fluconazole delivered to stratum corneum by direct diffusion from capillaries and in sweat is also in all likelihood transported in sebum.

Administration, Oral↗
PubMed1991

A fertile male with cystic fibrosis: molecular genetic analysis.

A family study is presented in which the father of a girl with severe cystic fibrosis (CF) was also found to have CF but was mildly affected. He was diagnosed with three positive sweat tests including one after suppression with fludrocortisone. Genetic analysis showed that he is a compound heterozygote with the delta F508 CF mutation associated with haplotype B and a second CF mutation associated with haplotype C. In this unusual, fertile CF male, the late age of diagnosis (30 years) and the mild clinical picture suggest that the compound genotype (delta F508/other CF mutation) determines a much less severe form of the disease which might have gone unnoticed in the absence of a severely affected child. The implications of these findings for genetic counselling of families with CF are discussed.

Adult↗
PubMed1990

[Spiradenoma apo- et eccrinale mammae--a report of 3 cases].

We have described three cases of benign sweat gland adenoma in woman's breast defined in latin terminology as spiradenoma apo- et eccrinale mammae, causing many diagnostic difficulties both in clinical and histologic analysis.

Adenoma, Sweat Gland↗