Long-term results of GH therapy in GH-deficient children treated before 1 year of age. (17/28941)

OBJECTIVES: To evaluate the long-term effects of GH therapy in early diagnosed GH-deficient patients treated before 1 year of age. STUDY DESIGN: We studied all 59 patients (33 males) recorded by Association France-Hypophyse and treated with GH (0.50+/-0.15 IU/kg (S.D.) per week) before 1 year of age. Clinical presentation and growth parameters under GH treatment were analyzed. RESULTS: Neonatal manifestations of hypopituitarism were frequent: hypoglycemia (n=50), jaundice (n=25) and micropenis (n=17/33). Although birth length was moderately reduced (-0.9+/-1.4), growth retardation at diagnosis (5.8+/-3.8 months) was severe (-3.5+/-1.9 standard deviation scores (SDS)). Fifty patients (85%) had thyrotropin and/or corticotropin deficiency. After a mean duration of GH therapy of 8.0+/-3.6 years, change in height SDS was +3.11+/-2.06 S.D., exceeding 4 SDS in 19 patients. Only 9 patients (15%) did not reach a height of -2 S.D. for chronological age and 20 patients (34%) exceeded their target height. Pretreatment height SDS was independently associated with total catch-up growth. CONCLUSION: Conventional doses of GH allow normalization of height in patients with early GH deficiency and treatment.  (+info)

Descriptive study of cooperative language in primary care consultations by male and female doctors. (18/28941)

OBJECTIVE: To compare the use of some of the characteristics of male and female language by male and female primary care practitioners during consultations. DESIGN: Doctors' use of the language of dominance and support was explored by using concordancing software. Three areas were examined: mean number of words per consultation; relative frequency of question tags; and use of mitigated directives. The analysis of language associated with cooperative talk examines relevant words or phrases and their immediate context. SUBJECTS: 26 male and 14 female doctors in general practice, in a total of 373 consecutive consultations. SETTING: West Midlands. RESULTS: Doctors spoke significantly more words than patients, but the number of words spoken by male and female doctors did not differ significantly. Question tags were used far more frequently by doctors (P<0.001) than by patients or companions. Frequency of use was similar in male and female doctors, and the speech styles in consultation were similar. CONCLUSIONS: These data show that male and female doctors use a speech style which is not gender specific, contrary to findings elsewhere; doctors consulted in an overtly non-directive, negotiated style, which is realised through suggestions and affective comments. This mode of communication is the core teaching of communication skills courses. These results suggest that men have more to learn to achieve competence as professional communicators.  (+info)

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. (19/28941)

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. (20/28941)

Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene. Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too. We therefore determined APOE genotype and normal CAG repeat length in the HD gene for 138 HD patients who were previously analysed with respect to CAG repeat length. Genotyping for APOE was performed blind to clinical information. In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited HD and in male patients, we show that the APOE epsilon2epsilon3 genotype is associated with significantly earlier AO in males than in females. Such a sex difference in AO was not apparent for any of the other APOE genotypes. Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO.  (+info)

Gender-specific differences in dialysis quality (Kt/V): 'big men' are at risk of inadequate haemodialysis treatment. (21/28941)

BACKGROUND: Inadequate dialysis dose is closely related to mortality and morbidity of maintenance haemodialysis (MHD) patients. According to the DOQI guidelines a minimum prescribed dialysis dose of single-pool Kt/V (Kt/Vsp)=1.3, equivalent to equilibrated double pool Kt/V (e-Kt/Vdp)=1.1, is recommended. Knowledge of patient-related risk factors for inadequate delivery of hacmodialysis would be helpful to select patient subgroups for intensive control ofdialysis adequacy. METHODS: A retrospective survey was conducted to assess the prevalence of inadequate dialysis dose according to DOQI criteria during a 7-month period. A total of 320 e-Kt/Vdp measurements in 62 MHD patients were evaluated (mean effective dialysis time 222+/-32 min). Residual renal function (RRF) was expressed as renal weekly Kt/V (r-Kt/Vweek) and included into assessment of total weekly renal and dialytic Kt/V (t-Kt/Vweek). RESULTS: Inadequacy (e-Kt/Vdp<1.10) was prevalent in 37.2% of all measurements and in 22/62 patients (35.5%). In 54% of underdialysed patients r-Kt/Vweek compensated for insufficient dialytic urea removal. Mean weekly Kt/V was inadequate (t-Kt/Vweek<3.30) in 12/62 patients (19.4%) of whom 91.7% (11/12) were male. Body-weight, urea distribution volume (UDV). and body-surface area (BSA) were significantly higher in inadequately is adequately dialysed males. UDV>42.0 litres or BSA>2.0 m2 and a lack of RRF (r-Kt/Vweek<0.3) put 'big men' at increased risk to receive an inadequate dose of dialysis. CONCLUSION: Our data identify patients at risk for inadequate haemodialysis treatment. Special attention should be focused on 'big men' with UDV>42.0 litres or BSA>2.0 m2. In this subset of patients frequent measurements of t-Kt/Vweek and assessment of RRF should be mandatory.  (+info)

Variability of glutathione S-transferase alpha in human liver and plasma. (22/28941)

BACKGROUND: Glutathione S-transferases are a family of enzymes involved in the binding, transport, and detoxification of a wide variety of endogenous and exogenous compounds. Little information is available about the variability of class alpha glutathione S-transferases in human liver, where they are highly expressed, or in serum. METHODS: Both total class alpha glutathione S-transferase (GST-alpha, composed of GSTA1-1, GSTA1-2, and GSTA2-2) as well as GSTA1-1 concentrations were measured by specific and sensitive ELISA in liver cytosols of 35 organ donors and in plasma samples of 350 healthy controls. RESULTS: The mean total GST-alpha and GSTA1-1 in liver cytosols were 25.1 +/- 9.4 and 10.7 +/- 5.3 microg/mg protein, respectively, and did not correlate with activities of aspartate aminotransferase or alanine aminotransferase. The mean total GST-alpha in liver was significantly higher in females compared with males (28.8 +/- 10.0 vs 22.0 +/- 7.8 microg/mg protein; P <0.05). In contrast, the median total GST-alpha in plasma was lower in females compared with males (2.0 and 2.8 microg/L, respectively; P <0.0001). The median ratios for GSTA1-1/total GST-alpha in liver and plasma were 0.42 and 0.58, respectively. CONCLUSIONS: GSTA1-1 constitutes approximately one-half of the total amount of alpha class GSTs in human plasma and liver. Total GST-alpha values are higher in female liver but lower in plasma compared with the respective values in males.  (+info)

Natural history of Helicobacter pylori infection in childhood: 12-year follow-up cohort study in a biracial community. (23/28941)

We assessed the pattern of acquisition and loss of Helicobacter pylori infection in a cohort of 212 children from a biracial community with a homogeneous socioeconomic class. The children were followed over 12 years (1973-1974 to 1985-1986) from childhood to young adulthood. H. pylori status was assessed by the presence of serum IgG antibodies to H. pylori. At ages 7-9, 19% of children had H. pylori infection (40% of blacks vs. 11% of whites; P = .0001); 12 years later, 33% were seropositive. The higher prevalence among blacks remained (P = .0001). During follow-up, 22% of children became infected; the rate of acquisition was fourfold greater among blacks than among whites (P = .001). Over the 12-year period, infection was lost in 50% of whites compared with 4% of blacks who either remained infected or became reinfected. H. pylori infection in childhood is affected by both acquisition and loss of infection in different ethnic groups. This observation is critical for understanding the epidemiology and transmission of H. pylori infection.  (+info)

Prognostic value of ECG findings for total, cardiovascular disease, and coronary heart disease death in men and women. (24/28941)

OBJECTIVE: To study abnormalities in the resting ECG as independent predictors for all cause, cardiovascular disease (CVD), and coronary heart disease (CHD) mortality in a population based random sample of men and women, and to explore whether their prognostic value is different between sexes. DESIGN AND SUBJECTS: An age and sex stratified random sample was selected from the total Belgian population aged 25 to 74 years. Baseline data were gathered and resting ECGs were classified according to Minnesota code criteria. The sample was then followed for at least 10 years with respect to cause specific death. Results are based on observations from 5208 men and 4746 women free from prevalent CHD at the start of the follow up period. RESULTS: Although the prevalence of major abnormalities in general was comparable between sexes, women had more ischaemic findings, ST segment changes, and abnormal T waves on their baseline ECG, while men showed more arrhythmias, bundle branch blocks, and left ventricular hypertrophy. Fitting the multiplicative effect on subsequent mortality between all ECG classifications under study and sex indicated that the prognostic value of ECG changes was equal in women and men. Independently of other risk factors and other major ECG changes, almost all ECG classifications were significantly related to all cause, CVD, and CHD mortality. The most predictive ECG findings for CVD death were ST segment depression (risk ratio (RR) 4.71), major ECG findings (RR 3.26), left ventricular hypertrophy (RR 2.79), bundle branch blocks (RR 2.58), T wave flattening (RR 2.47), ischaemic ECG findings (RR 2.35), and arrhythmias (RR 2.15). The prognostic value of major ECG findings for CVD and CHD death was more powerful than well established cardiovascular risk factors. CONCLUSIONS: Abnormalities in the baseline ECG are strongly associated with subsequent all cause, CVD, and CHD mortality. Their predictive value was similar for men and women.  (+info)