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91.
MD Donaldson PH Thomas JG Love GD Murray AW McNinch DC Savage 《Archives of disease in childhood》1994,70(3):214-218
The presentation, pattern of acute illness, and incidence of learning difficulties are described in 63 (33 boys, 30 girls) children with salt wasting 21-hydroxylase deficiency, drawn from a cohort study of congenital adrenal hyperplasia in the South West Region of England between 1968 and 1988. Thirty boys presented with a salt losing crisis from birth whereas the other three boys presented between 2 and 14 months of age with failure to thrive and hyponatraemia. Diagnostic uncertainty led to 13 (43%) of 30 girls developing a salt losing crisis. Five girls were misassigned as boys at birth. There were four deaths in the group, two due to salt losing crisis, one to complications of prematurity possibly compounded by 21-hydroxylase deficiency, and one from heart failure probably related to an excess of steroids. Acute admissions were common, especially during the first year of life, with convulsions in 7% of admissions. The 9% incidence of hypoglycaemia was considered to be an underestimate as blood glucose was measured in only 56 (22%) of 254 admissions. No convulsions occurred in the 38 (15%) admissions where the parents had given intramuscular hydrocortisone before bringing the child to hospital. A high incidence of learning difficulties was found among the 59 surviving children (9/30 (30%) boys and 6/29 (21%) girls), and in only two children could any factor other than 21-hydroxylase deficiency be invoked. Analysis of the subgroup with learning difficulties indicated that they were more ill at presentation with a significantly higher incidence of hypoglycaemia, and that growth in the first year was significantly worse. It is concluded that congenital adrenal hyperplasia remains a formidable disorder with an appreciable mortality and morbidity. The high incidence of learning difficulties seen in salt wasting 21-hydroxylase deficiency needs further attention. A prospective study is indicated to examine the effect of neonatal screening on morbidity from congenital adrenal hyperplasia, particularly the intellectual impairment seen in this study. 相似文献
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L. Petreska S. Koceva D. Plaseska M. Chernick A. Gordova-Muratovska S. Fustic R. Nestorov GD Efremov 《Clinical genetics》1998,54(3):203-209
Petreska L, Koceva S, Plaseska D, Chernick M, Gordova-Muratovska A, Fustic S, Nestorov R, Efremov GD. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin Genet 1998: 54: 203–209. 0 Munksgaard, 1998
Eighty-three cystic fibrosis (CF) patients and their families, belonging to various ethnic groups living in the Republic of Macedonia were studied for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and for the associated extragenic marker loci XV-2c and KM 19. The DNA methodology used included characterization of CFTR mutations in 19 exons (and flanking sequences) of the gene and analysis of distribution of the XV-2c/KM19 haplotypes among normal (N) and CF chromosomes by polymerase chain reaction (PCR) amplification followed by dot blot hybridization, restriction digestion, single-strand conformational polymorphism, constant denaturing gel electrophoresis, denaturing gradient gel elec-trophoresis, and sequencing. We identified 58.4% (97/166) of the CF chromosomes. Nine different CFTR gene mutations, including three novel ones. were found. Eight known and one new CFTR intragene polymorphisrns were also characterized. The haplotype analysis of the XV-2c/TaqI and KM19/PstI polymorphic loci have shown that haplotype C is the most frequently found haplotype among the non-AF508 CF chromosomes from Macedonia (36.5%). The results demonstrate the broad heterogeneity of CF origin in this part of the Balkan Peninsula. 相似文献
Eighty-three cystic fibrosis (CF) patients and their families, belonging to various ethnic groups living in the Republic of Macedonia were studied for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and for the associated extragenic marker loci XV-2c and KM 19. The DNA methodology used included characterization of CFTR mutations in 19 exons (and flanking sequences) of the gene and analysis of distribution of the XV-2c/KM19 haplotypes among normal (N) and CF chromosomes by polymerase chain reaction (PCR) amplification followed by dot blot hybridization, restriction digestion, single-strand conformational polymorphism, constant denaturing gel electrophoresis, denaturing gradient gel elec-trophoresis, and sequencing. We identified 58.4% (97/166) of the CF chromosomes. Nine different CFTR gene mutations, including three novel ones. were found. Eight known and one new CFTR intragene polymorphisrns were also characterized. The haplotype analysis of the XV-2c/TaqI and KM19/PstI polymorphic loci have shown that haplotype C is the most frequently found haplotype among the non-AF508 CF chromosomes from Macedonia (36.5%). The results demonstrate the broad heterogeneity of CF origin in this part of the Balkan Peninsula. 相似文献
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96.
Robert J. F. Eisner GD MS MEd Mary Ellen Quinn RN PhD Sandra D. Fanning BSHE Sarah Hall Gueldner RN DSN FAAN Leonard W. Poon PhD 《Journal of nursing scholarship》1999,31(3):263-267
To illustrate the incongruence of ethical standards and fiscal and policy constraints on quality care for the oldest old. As the fastest growing demographic segment in the United States, care needs of the oldest old are a special challenge to the health care system.
Narrative analysis of interviews with centenarians who used nursing home services. The sample was three participants of the Georgia Centenarian Study who had been community dwelling and cognitively intact at the onset of participation (between 1988 and 1997). Interviews were conducted in nursing homes or after discharge.
Case histories were constructed from interviews in 1997 to improve understanding of quality of care.
Less-than-optimal care was provided for these elders, and little consideration was given to their input to care decisions and prospects for medical improvement. Appropriate consideration was not given to providing least-restrictive environments, appropriate restraint use, and options for community care.
Six policy reforms are suggested for meeting the needs of the oldest-old before and after institutionalization. These include: integration of resident involvement in care decisions; development of alternate models of care; greater input from nurses concerning nursing care of special populations; more effective family and community involvement in the caring of elderly populations; increased research to promote function and independence; and increased education of personnel and nursing students to allow for more accurate assessment of cognitive and physical status. 相似文献
Design:
Narrative analysis of interviews with centenarians who used nursing home services. The sample was three participants of the Georgia Centenarian Study who had been community dwelling and cognitively intact at the onset of participation (between 1988 and 1997). Interviews were conducted in nursing homes or after discharge.
Methods:
Case histories were constructed from interviews in 1997 to improve understanding of quality of care.
Findings:
Less-than-optimal care was provided for these elders, and little consideration was given to their input to care decisions and prospects for medical improvement. Appropriate consideration was not given to providing least-restrictive environments, appropriate restraint use, and options for community care.
Conclusions:
Six policy reforms are suggested for meeting the needs of the oldest-old before and after institutionalization. These include: integration of resident involvement in care decisions; development of alternate models of care; greater input from nurses concerning nursing care of special populations; more effective family and community involvement in the caring of elderly populations; increased research to promote function and independence; and increased education of personnel and nursing students to allow for more accurate assessment of cognitive and physical status. 相似文献
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OS Ogah RO Akinyemi JO Adesina JKL Osinfade RF Ogundipe GD Adegbite OI Udofia SB Udoh OS Ojo AA Alabi T Majekodunmi AO Falase 《Cardiovascular journal of Africa》2011,22(6):297-302
Background
We sought to determine the prevalence of echocardiographically determined left ventricular systolic dysfunction in asymptomatic hypertensive subjects seen in Abeokuta, Nigeria.Methods
Echocardiography was performed in 832 consecutive hypertensive subjects referred for cardiac evaluation over a three-year period.Results
Data were obtained in 832 subjects (50.1% women) aged 56.0 ± 12.7 years (men 56.9 ± 13.3 years, women 55.0 ± 12.0 years, range 15–88). The prevalence of left ventricular systolic dysfunction (LVSD) was 18.1% in the study population (mild LVSD = 9.6%, moderate LVSD = 3.7% and severe LVSD = 4.8%). In a multivariate analysis, male gender, body mass index and LV mass were the predictors of LVSD.Conclusion
Significant numbers of hypertensive subjects in this study had varying degrees of left ventricular systolic dysfunction. Early introduction of disease-modifying drugs in these patients, such as angiotensin converting enzyme inhibitors or angiotensin receptor blockers may retard or prevent the progression to overt heart failure. 相似文献99.
GD Honey PR Corlett AR Absalom M Lee E Pomarol-Clotet GK Murray PJ McKenna ET Bullmore DK Menon PC Fletcher 《The Journal of neuroscience》2008,28(25):6295-6303
The symptoms of major psychotic illness are diverse and vary widely across individuals. Furthermore, the prepsychotic phase is indistinct, providing little indication of the precise pattern of symptoms that may subsequently emerge. Likewise, although in some individuals who have affected family members the occurrence of disease may be predicted, the specific symptom profile may not. An important question, therefore, is whether predictive physiological markers of symptom expression can be identified. We conducted a placebo-controlled, within-subjects study in healthy individuals to investigate whether individual variability in baseline physiology, as assessed using functional magnetic resonance imaging, predicted psychosis elicited by the psychotomimetic drug ketamine and whether physiological change under drug reproduced those reported in patients. Here we show that brain responses to cognitive task demands under placebo predict the expression of psychotic phenomena after drug administration. Frontothalamic responses to a working memory task were associated with the tendency of subjects to experience negative symptoms under ketamine. Bilateral frontal responses to an attention task were also predictive of negative symptoms. Frontotemporal activations during language processing tasks were predictive of thought disorder and auditory illusory experiences. A subpsychotic dose of ketamine administered during a second scanning session resulted in increased basal ganglia and thalamic activation during the working memory task, paralleling previous reports in patients with schizophrenia. These results demonstrate precise and predictive brain markers for individual profiles of vulnerability to drug-induced psychosis. 相似文献
100.