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91.
92.
A behavioral approach to increasing calorie consumption in children with cystic fibrosis 总被引:1,自引:1,他引:1
To increase calorie consumption of 5 mildly malnourished children with cystic fibrosis (CF), intervention was implemented in multiple baseline fashion across snack and three meals. Intervention involved nutritional education establishing gradually increasing calories goals, teaching parents contingency management strategies, and a reward system for achieving calorie goals. Following 6 treatment sessions, the children's calorie intake increased across meals and total calorie intake was 25 to 43% above baseline. The calorie increase was maintained at 9-month follow-up. Significant changes in weight and height were made during treatment and the year following intervention. The results suggest that the long-term oral intake of children with CF can be modified by a short-term behavioral intervention. 相似文献
93.
94.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 总被引:22,自引:1,他引:22
Marsh DJ; Coulon V; Lunetta KL; Rocca-Serra P; Dahia PL; Zheng Z; Liaw D; Caron S; Duboue B; Lin AY; Richardson AL; Bonnetblanc JM; Bressieux JM; Cabarrot-Moreau A; Chompret A; Demange L; Eeles RA; Yahanda AM; Fearon ER; Fricker JP; Gorlin RJ; Hodgson SV; Huson S; Lacombe D; Eng C 《Human molecular genetics》1998,7(3):507-515
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403
amino acid dual specificity phosphatase (protein tyrosine phosphatase;
PTPase), was shown recently to play a broad role in human malignancy.
Somatic PTEN deletions and mutations were observed in sporadic breast,
brain, prostate and kidney cancer cell lines and in several primary tumours
such as endometrial carcinomas, malignant melanoma and thyroid tumours. In
addition, PTEN was identified as the susceptibility gene for two hamartoma
syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or
Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD
families and seven BZS families was screened for germline PTEN mutations.
PTEN mutations were identified in 30 of 37 (81%) CD families, including
missense and nonsense point mutations, deletions, insertions, a
deletion/insertion and splice site mutations. These mutations were
scattered over the entire length of PTEN , with the exception of the first,
fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified
in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD
mutations identified in this exon. Seven of 30 (23%) were within the core
motif, the majority (five of seven) of which were missense mutations,
possibly pointing to the functional significance of this region. Germline
PTEN mutations were identified in four of seven (57%) BZS families studied.
Interestingly, none of these mutations was observed in the PTPase core
motif. It is also worthy of note that a single nonsense point mutation,
R233X, was observed in the germline DNA from two unrelated CD families and
one BZS family. Genotype-phenotype studies were not performed on this small
group of BZS families. However, genotype-phenotype analysis inthe group of
CD families revealed two possible associations worthy of follow-up in
independent analyses. The first was an association noted in the group of CD
families with breast disease. A correlation was observed between the
presence/absence of a PTEN mutation and the type of breast involvement
(unaffected versus benign versus malignant). Specifically and more
directly, an association was also observed between the presence of a PTEN
mutation and malignant breast disease. Secondly, there appeared to be an
interdependent association between mutations upstream and within the PTPase
core motif, the core motif containing the majority of missense mutations,
and the involvement of all major organ systems (central nervous system,
thyroid, breast, skin and gastrointestinal tract). However, these
observations would need to be confirmed by studying a larger number of CD
families.
相似文献
95.
Birth weight has long been a focus of study by epidemiologists and human biologists, because it reflects the quality of the intrauterine environment and may be used as a predictor of future growth and development. Comparisons of Black and White neonates in the USA have consistently shown differences in birth weight. Confounding variables are a major problem in any such investigation, especially socio-economic status which is highly correlated with race in the USA. This study was distinctive in the sampling of one socio-economic stratum (low income), and the use of five anthropometric measures in addition to birth weight. The goals of this study were as follows: to determine if there were differences in body size and body composition at birth in Black and White neonates of low socio-economic status (SES), and to investigate what variables might account for any observed variability. The sample consisted of full term Black and White neonates of low SES (n = 323) born in Albany, NY (1986-1997). Birth weight, length, head and arm circumference, and subscapular and triceps skinfolds were compared. Race was determined through maternal self-identification. White neonates were significantly larger than Black neonates in birth weight, length and head circumference. Among female neonates none of the anthropometric dimensions differed between Blacks and Whites. Among male neonates, Whites were significantly larger than Blacks in birth weight, length, head and arm circumferences. Principal components analysis reduced the six anthropometric dimensions to two summary measures: body size and composition. When controlling for social and biological variables, race and sex were significant predictors of body composition, but not body size. Interpretation of results and possible causal relationships are discussed. 相似文献
96.
Stark Lori J.; Opipari Lisa C.; Donaldson Deidre L.; Danovsky Michael B.; Rasile Deborah A.; DelSanto Anne F. 《Journal of pediatric psychology》1997,22(5):619-633
Replicated the efficacy of a short-term, combined medical andbehavioral intervention protocol for retentive encopresis. Fifty-ninechildren who had failed standard medical management for retentiveencopresis and their parents participated in six 1-hour grouptreatment sessions. Treatment protocol combined the medicalmanagement strategies of enema clean out, increasing dietaryfiber, and daily toilet sitting with the child behavior managementstrategies of differential attention, contingency management,and contracting. For the overall sample, the number of soilingincidents decreased 85%, the weekly frequency of independentbowel movements increased 15%, the weekly frequency of parent-promptedbowel movements increased 9%, and daily dietary fiber intakeincreased 121% pre-to posttreatment. The majority of the sample(86%) stopped soiling by the end of treatment and did not requirefurther treatment. Results are discussed in terms of the comparabilitywith previous findings and the utility of combined medical andpsychological treatments for children with encopresis who havefailed standard medical approaches 相似文献
97.
C R Payne J W Hadfield P G Stovin V Barker B E Heard J E Stark 《Journal of clinical pathology》1981,34(7):773-778
The accuracy of diagnosis in 656 patients with the four common histopathological types of primary lung cancer has been assessed by comparing the cell type diagnosis made on cytological and histological investigation with that determined by examination of the surgically resected or necroscopy specimen. The accuracy of diagnosis achieved by cytological examination of sputum and bronchial aspirate, and by bronchial biopsy histology was over 85%. The least accurate diagnostic procedure was percutaneous needle biopsy (62%). Squamous and small cell tumours were accurately diagnosed by all four investigations but errors were made in the diagnosis of large cell and adenocarcinomas. Nearly half the number of patients (43%) with large cell carcinoma were later reclassified as having squamous carcinoma and of the patients with adenocarcinoma 32% had been predicted to be squamous and 18% large cell carcinoma. We consider such quality control of pretreatment diagnosis mandatory in management of individual patients and before enrollment in clinical trials. 相似文献
98.
DL?MagerEmail author AD?Haffajee PM?Devlin CM?Norris MR?Posner JM?Goodson 《Journal of translational medicine》2005,3(1):27
Background
The purpose of the present investigation was to determine if the salivary counts of 40 common oral bacteria in subjects with an oral squamous cell carcinoma (OSCC) lesion would differ from those found in cancer-free (OSCC-free) controls. 相似文献99.
100.
Josephine O'Doherty Robert J. Stark 《Pflügers Archiv : European journal of physiology》1982,394(1):26-31
Acetylcholine (ACh) released from vagal terminals increases the permeability of the pancreatic acinar membrane to Na+ and Ca2+ ions. In this report, we compare the induced changes in intracellular Na+ and Ca2+ electrode potentials (ENa and ECa) due to ACh-stimulation of acini with those observed during stimulation with the calcium ionophore, A23187, which mimicks the action of ACh on pancreatic secretion. Stimulation with ACh concentrations varying from 10–8 to 10–5 M and with A23187 concentrations of 10–6 and 10–5 M caused parallel increases in cytosolic Ca2+ and Na+ ([Ca]i, [Na]i). The magnitude of the increases in [Ca]i and [Na]i due to A23187-stimulation further indicate that when presented with a calcium challenge the acinar cells continue to regulate [Ca]i close to physiological levels and suggest that the observed increases in ionized calcium could reflect much larger increases in complexed Ca2+. ACh-stimulation following removal of either extracellular Na+ or Ca2+ ions, eliminated the intracellular increases found when the removed ions is present, but did not affect the increases usually found with the other ion. The independence of the permeability changes to either the presence of Ca2+ or Na+ indicates the ACh-induced currents carried by Na+ and Ca2+ are also independent. The selective translocation of Na+ and Ca2+ during acetylcholine-stimulation in a manner analogous to the changes observed when ionophore A23187 was used as stimulus, indicates the ability of the activated acinar membrane to function as an ionophore. 相似文献