Albinism in the South African Negro. III. Genetic counselling issues

1984 ◽  
Vol 16 (1) ◽  
pp. 99-108 ◽  
Author(s):  
Jennifer G. R. Kromberg ◽  
Trefor Jenkins

SummaryA sample of 35 South African Negro albinos and a normally pigmented matched control group have been studied for adjustment problems and attitudes towards this inherited condition. The results showed that although the albinos appeared to be as well adjusted as the controls, significantly more of the albino group had adjustment problems of a physical nature indicated by psychosomatic symptoms. Attitudes were found to be reasonably positive. One common local misconception was revealed: that albinos do not die but disappear or ‘vanish away’. There was very little understanding of the cause, mode of inheritance or the problems associated with albinism. It is concluded that relevant genetic counselling should be offered to the Negro albinos to enable them to understand their condition, its implications and the myths which surround it. Because albinism is so common in South Africa the education of the community in this connection is also desirable.

Author(s):  
Shamima Saloojee ◽  
Jonathan K. Burns ◽  
Ayesha A. Motala

Background: There is an increased prevalence of metabolic syndrome (MetS) in individuals with severe mental illness (SMI) globally. The prevalence of MetS is higher in black women compared to black men from South Africa.Aim: To compare the prevalence of MetS between black South African men and women with SMI taking antipsychotic medication. Further, this prevalence was compared to the prevalence in a matched control group of black South African men and women without SMI. Setting: A general hospital psychiatric unit.Methods: A cross-sectional study was undertaken to compare the prevalence of MetS in a group of multi-ethnic participants with SMI treated with antipsychotic medication and a matched control group without SMI, applying the 2009 Joint Interim Statement (JIS) criteria. Here, we included only the black African participants to compare MetS prevalence between men and women.Results: There were 232 participants in the group with SMI (male 155 and female 77) and without SMI (male 156 and female 76). The prevalence of MetS was more than three times higher in women with SMI compared to men with SMI (37.7% vs. 10.3%, p < 0.001). There was no significant difference in the prevalence of MetS in men or women between the groups with and without SMI. In multivariate logistic regression analysis, female gender (odds ratio [OR] 7.66), advancing age (OR 1.08) and longer duration of illness (OR = 1.15) were significant risk factors for MetS in SMI.Conclusion: In black South Africans with SMI on antipsychotic medication, there is a higher prevalence and risk for MetS in women compared to men.


2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 771-771
Author(s):  
Miriam Morey ◽  
Cathy Lee

Abstract In recognition of the GSA’s 75th Anniversary “Why Age Matters” we celebrate the 7th anniversary of the Gerofit dissemination initiative. Gerofit is an exercise and health promotion program for older Veterans that has been declared a Veterans Health Administration (VA) “Best Practice” and been disseminated to 17 VA’s across the country. Over 7000 Veterans have participated in Gerofit initiated programs and have reported robust outcomes including improved quality of life, physical and mental health, and high levels of satisfaction with the programs. For this symposium, we focus on newly acquired program outcomes that emphasize the importance of fitness as we age. The first paper compares hospitalization and emergency room visits between individuals participating in Gerofit for 12 months compared to a matched control group. The second paper describes four-year trajectories of physical performance to highlight the impact of becoming fit over expected normative trajectories. The third paper examines outcomes of a home-based geriatric walking clinic. The fourth paper describes the impact of exercise adherence on chronic pain. The fifth paper describes changes in medication utilization compared to a matched control group following 12-months of supervised exercise. These papers highlight the importance of fitness as a contributor to overall health during the aging process and celebrates that fitness matters, no matter when you start!


1998 ◽  
Vol 16 (2) ◽  
pp. 397-404 ◽  
Author(s):  
O T Jóhannsson ◽  
J Ranstam ◽  
A Borg ◽  
H Olsson

PURPOSE Recent studies indicate that BRCA1 breast and ovarian tumors may have an advantageous survival. In this population-based study, the survival of carriers of a mutated BRCA1 gene was investigated. PATIENTS AND METHODS The survival of 71 BRCA1-associated cancer patients (33 breast cancer, seven breast and ovarian cancer, and 31 ovarian cancer patients from 21 families with BRCA1 germline mutations) diagnosed after 1958 was compared with that of a population-based comparison group that consisted of all other invasive breast (n = 28,281) and ovarian (n = 7,011) cancers diagnosed during 1958 to 1995, as well as an age- and stage-matched control group. RESULTS No apparent survival advantage was found for BRCA1-associated breast cancers upon direct comparison. After adjustment for age and calendar year of diagnosis, survival was equal to or worse than that of the comparison group (hazards ratio [HR], 1.5; 95% confidence interval [CI], 0.9 to 2.4). In comparison with an age- and stage-matched control group, survival again appeared equal or worse (HR, 1.5; 95% CI, 0.6 to 3.7). For BRCA1-associated ovarian cancers, an initial survival advantage was noted that disappeared with time. Due to this time dependency, multivariate analyses cannot adequately be analyzed. Compared with the age- and stage-matched control group, survival again appeared equal or worse (HR, 1.2; 95% CI, 0.5 to 2.8). CONCLUSION The results suggest that survival for carriers of a BRCA1 mutation may be similar, or worse than, that for breast and ovarian cancer in general. This finding is in accordance with the adverse histopathologic features observed in BRCA1 tumors and underlines the need for surveillance in families that carry a BRCA1 mutation.


Nutrients ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 2555 ◽  
Author(s):  
Takahashi ◽  
Matsunaga ◽  
Banjo ◽  
Takahashi ◽  
Sato ◽  
...  

We investigated the effects of nutrient intake timing on glycogen accumulation and its related signals in skeletal muscle after an exercise that did not induce large glycogen depletion. Male ICR mice ran on a treadmill at 25 m/min for 60 min under a fed condition. Mice were orally administered a solution containing 1.2 mg/g carbohydrate and 0.4 mg/g protein or water either immediately (early nutrient, EN) or 180 min (late nutrient, LN) after the exercise. Tissues were harvested at 30 min after the oral administration. No significant difference in blood glucose or plasma insulin concentrations was found between the EN and LN groups. The plantaris muscle glycogen concentration was significantly (p < 0.05) higher in the EN group—but not in the LN group—compared to the respective time-matched control group. Akt Ser473 phosphorylation was significantly higher in the EN group than in the time-matched control group (p < 0.01), while LN had no effect. Positive main effects of time were found for the phosphorylations in Akt substrate of 160 kDa (AS160) Thr642 (p < 0.05), 5'-AMP-activated protein kinase (AMPK) Thr172 (p < 0.01), and acetyl-CoA carboxylase Ser79 (p < 0.01); however, no effect of nutrient intake was found for these. We showed that delayed nutrient intake could not increase muscle glycogen after endurance exercise which did not induce large glycogen depletion. The results also suggest that post-exercise muscle glycogen accumulation after nutrient intake might be partly influenced by Akt activation. Meanwhile, increased AS160 and AMPK activation by post-exercise fasting might not lead to glycogen accumulation.


2021 ◽  
pp. 152574012110547
Author(s):  
Elmien Kraamwinkel ◽  
Alta Kritzinger

Late language emergence (LLE) may result from genetic and environmental factors. Little is known about environmental factors in LLE in South Africa. The study describes the nature of differences in language functioning between toddlers with LLE and without LLE, and which factors were associated with LLE in a middle-income area in South Africa. Toddlers, aged 24 to 36 months with LLE ( n = 20) were matched with a control group (CG, n = 21) for household income, age, gender, maternal education, and parental employment. The research group (RG) showed moderate delays in expressive and receptive language, and play skills, while the controls exhibited no delay. Significant differences in early feeding history and multilingual exposure were found between the groups. As far as known, it is the first study utilizing a South African middle-income sample indicating that multilingual exposure may play a role in LLE. The study focuses the attention on environmental factors which are potentially modifiable in LLE.


1981 ◽  
Vol 139 (1) ◽  
pp. 38-42 ◽  
Author(s):  
R. C. B. Aitken ◽  
J. A. Lister ◽  
C. J. Main

SummaryThe psychological and physiological features of 20 aircrew consecutively referred for treatment of anxiety symptoms when flying were compared with a matched control group of uncomplaining aircrew. There were no significant differences between the two groups on psychometric tests of personality, though there were differences in skin conductance; the phobics had a higher rate of spontaneous fluctuation, and habituated less to a repeated auditory tone. More of the phobic group worried about their wives and acknowledged childhood and other adulthood phobias; more had a family history of an episode perhaps best described as flying trauma. Many were on an overseas posting when symptoms presented. These few features could correctly classify 85 per cent of the subjects into the phobic or control group. This type of ‘phobic aircrew index’ now requires to be validated prospectively for its predictive value.


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