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1.
J Expo Sci Environ Epidemiol ; 29(3): 335-343, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30242267

RESUMEN

Element deficiencies and excesses play important roles in non-communicable disease aetiology. When investigating their roles in epidemiologic studies without prospective designs, reverse-causality limits the utility of transient biomarkers in cases. This study aimed to investigate whether surrogate participants may provide viable proxies by assessing concentration correlations within households. We obtained spot urine samples from 245 Tanzanian and Kenyan adults (including 101 household pairs) to investigate intra-household correlations of urinary elements (As, Ba, Ca, Cd, Co, Cs, Cu, Fe, Li, Mn, Mo, Ni, Pb, Rb, S, Se, Sr, Tl, V and Zn) and concentrations (also available for: Bi, Ce, Sb, Sn and U) relative to external population-levels and health-based values. Moderate-strong correlations were observed for As (r = 0.65), Cs (r = 0.67), Li (r = 0.56), Mo (r = 0.57), Se (r = 0.68) and Tl (r = 0.67). Remaining correlations were <0.41. Median Se concentrations in Tanzania (29 µg/L) and Kenya (24 µg/L) were low relative to 5738 Canadians (59 µg/L). Exceedances (of reference 95th percentiles) were observed for: Co, Mn, Mo, Ni and U. Compared to health-based values, exceedances were present for As, Co, Mo and Se but deficiencies were also present for Mo and Se. For well correlated elements, household members in East African settings provide feasible surrogate cases to investigate element deficiencies/excesses in relation to non-communicable diseases.


Asunto(s)
Composición Familiar , Oligoelementos/orina , Adolescente , Adulto , Anciano , Biomarcadores/orina , Estudios de Casos y Controles , Femenino , Humanos , Kenia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tanzanía , Adulto Joven
2.
Oxf Med Case Reports ; 2018(7): omy036, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30034812

RESUMEN

Camurati-Engelmann disease is a rare autosomal dominant inherited condition belonging to the group of craniotubular hyperostosis with characteristic radiological features of the diaphyses of the long bones and the skull. A 35-year-old female is reported presenting with bone pain and waddling gait, since the age of 20 years. Motor activities were limited since the age of 10 years. Palpable bones, muscle weakness and protrusion of eyes were noted. Radiologically, hyperostosis of long bones was seen. Based on history, clinical and radiological features Camurati-Engelmann disease was diagnosed. Sequence analysis of the transforming growth factor ß1 (TGFB1) gene revealed a missense mutation (c.652C>T; p.Arg218Cys). She is the first molecularly confirmed case in sub-Saharan Africa. It is emphasized that Camurati-Engelmann disease is included in the differential diagnosis of persistent bone pain, but also of abnormal childhood motor development in order to avoid unnecessary investigations and inadequate management.

3.
Cancer Epidemiol ; 53: 119-128, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29414631

RESUMEN

Esophageal squamous cell carcinoma (ESCC) remains the predominant histological subtype of esophageal cancer (EC) in many transitioning countries, with an enigmatic and geographically distinct etiology, and consistently elevated incidence rates in many Eastern and Southern African countries. To gain epidemiological insights into ESCC patterns across the continent, we conducted a systematic review and meta-analysis of male-to-female (M:F) sex ratios of EC age-standardised (world) incidence rates in Africa according to geography, time and age at diagnosis. Data from 197 populations in 36 countries were included in the analysis, based on data from cancer registries included in IARC's Cancer Incidence in Five Continents, Cancer in Africa and Cancer in Sub-Saharan Africa reports, alongside a systematic search of peer-reviewed literature. A consistent male excess in incidence rates overall (1.7; 95% CI: 1.4, 2.0), and in the high-risk Eastern (1.6; 95% CI: 1.4, 1.8) and Southern (1.8; 95% CI: 1.5, 2.0) African regions was observed. Within the latter two regions, there was a male excess evident in 30-39 year olds that was not observed in low-risk regions. Despite possible referral biases affecting the interpretability of the M:F ratios in place and time, the high degree of heterogeneity in ESCC incidence implies a large fraction of the disease is preventable, and directs research enquiries to elucidate early-age exposures among young men in Africa.


Asunto(s)
Neoplasias Esofágicas/epidemiología , Sistema de Registros/estadística & datos numéricos , Adulto , África/epidemiología , Factores de Edad , Anciano , Femenino , Geografía , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Factores de Tiempo , Adulto Joven
4.
Case Rep Genet ; 2017: 2348045, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28487784

RESUMEN

Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

5.
Oxf Med Case Reports ; 2015(8): 314-6, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26421158

RESUMEN

Spontaneous oesophageal rupture after swallowing a bolus of food is a very rare condition. In resource-limited settings, it is very challenging to diagnose this condition especially when its presentation is atypical. Its prognosis is very poor when diagnosis is delayed due to risk of mediastinitis. We report a case of 37-year-old man who was admitted to our hospital complaining of sudden onset of chest tightness and pain after a meal 8 h prior to admission. Urgent chest radiograph revealed right hydropneumothorax with collapsed lung. Water-seal drainage was established gushing 1200 ml of food materials. Definitive diagnosis of oesophageal rupture was reached after post-mortem.

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