Congenital Adrenal Hyperplasia in The Bahamas due to 21-Hydroxylase Deficiency / Hiperplasia Suprarrenal Congénita en las Bahamas por Déficit de 21-Hidroxilasa

OBJECTIVE: To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS: Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS: Nine patients had elevated 17-OH progesterone levels--confirming 21-hydroxylase deficiency. Range of levels was 174.9 nmol/l to 81678.7 nmol/L (normal less than 13 nmol/L). There were six females and three males and the age at diagnosis ranged from 21 days to 16 years. Five had precocious development, three had salt wasting, and there was one with virilization. One of the salt wasters had ambiguous genitalia. Incidence of 2l-hydroxylase deficiency--20/100,000; salt wasting--35/100,000; the prevalence of 21-Hydroxylase deficiency 10/100,000). CONCLUSION: The frequency of 21-Hydroxylase deficiency in The Bahamas is one of the highest worldwide.

OBJETIVO: Determinar la frecuencia del déficit de 21-hidroxilasa en las Bahamas y el espectro de este problema. MÉTODOS: A los pacientes remitidos para evaluación de virilización, pubertad precoz, genitales ambiguos, y pérdida de sal, se les extrajo sangre para medir la 17-hidroxiprogesterona (17-OH progesterona) mediante un inmunoensayo enzimático (ELISA). RESULTADOS: Nueve pacientes tuvieron niveles elevados de 17-OH progesterona, confirmando el déficit de 21-hidroxilasa. El rango de niveles fue de 174.9nmol/l a 81678.7 nmol/L (normal menos de 13). Había seis hembras y tres varones, y la edad al momento del diagnóstico oscilaba entre los 21 días y los 16 años. Cinco mostraban desarrollo precoz, tres presentaban pérdida de sal, y uno exhibía virilización. Uno de los pacientes con pérdida de sal presentaba también genitales ambiguos. Incidencia del déficit de 21-hidroxilasa – 20/100 000. (Incidencia de la pérdida de sal – 35/100 000. Prevalencia del déficit de 21-hidroxilasa – 10/100 000). CONCLUSIÓN: La frecuencia del déficit de 21-hidroxilasa en las Bahamas es una de las más altas a nivel mundial.

Prevalence; diversite antigenique et multiplicite d'infections de Plasmodium falciparum en milieu scolaire au centre de la Cote d'Ivoire

Une etude a ete conduite a Taabo - village; localite rurale du centre de la Cote d'Ivoire; situee a proximite d'un gra n d lac artificiel. Les objectifs etaient (i) de determiner le taux d'endemicite du paludisme; la diversite antigenique et la multiplicite des infections a Plasmodium falciparum au sein d'ecoliers; et (ii) de comparer la performance du diagnostic microscopique a celle de la reaction de polymerisation en chaine (PCR). Au total; 424 eleves ages de 5 a 15 ans ont eu des examens de sang au microscope et par PCR. La multiplicite d'infection a porte sur 196 (46;2) d'entre eux. L'indice plasmodique detecte au micro s c o p e est de 54;7et de 83;9par PCR. Les typages genotypiques determines par le polymorphisme des longueurs de fragments de restriction du gene respon sable des proteines de surface-2 du mero zoite (m s p 2); ont revele 86;5de cas d'infections multipes; avec une moyenne geometrique de 3;87 genotypes par individu positif. Une correlation positive significative a ete obtenue entre a multiplicite et les densites parasitaires au sein du groupe d'age 5-6 ans. 50 genotypes dont six observes pour la premiere fois ont ete denombres puis classes en familles de tailles similaires FC27 (n=26 ; 52) et 3D7 (n=24 ; 48). Compare a la PCR; la microscopie a montre une sensibilite et une specificite respectivement de 81;3et 88;2. Nos donnees sont discutees au regard d'etudes similaires en Afrique sub-saharienne et ailleurs; et peuvent servir de base a long terme pour l'evaluation d'impact des grands amenagements d'eau sur la prevalence; la diversite antigenique et la multiplicite des infections a P. fal c i p a ru m

Histochemical localization of enzymes and lipids in the ovary of a vespertilionid bat, Scotophilus heathi, during the reproductive cycle

O presente estudo descreve as mudanças sazonais na D5 3b hidroxiesteróide desidrogenase (3b-HSD), glicose-6 fosfato desidrogenase (G-6-PD), e lipídios no ovário de um morcego vespertilionidae, Scotophilus heathi. As atividades totais dos lipídios e do 3b-HSD estão restritas às células tecais e intersticiais do ovário. Os lipídios, 3b-HSD e G-6-PD totais, aumentaram significantemente durante a recrudescência, e permaneceram elevados durante a dormência de inverno e o período de acasalamento, quando comparados a outras fases reprodutivas. A alta incidência de atividade de lipídios e enzimas nas células intersticiais durante o período de acasalamento e durante o período de ovulação sugere claramente que estas células estão ativamente envolvidas na esteroidogênese. O declínio da atividade dos lipídios e enzimas durante a dormência de inverno, o qual se correlaciona com os níveis decrescentes da esteroidogênese, podem ser o fator responsável pela longa sobrevivência do folículo de De Graaf no ovário do S. heathi.

Leprosy neuropathy: correlation of clinical and electrophysiological tests.

This report describes the neurological and electrophysiological examination of 35 subjects with leprosy (average duration of symptoms 3.4 years, average time since diagnosis 7.5 months). Clinical examination in the distribution of non-dominant median and ulnar nerves was performed with the following clinical methods: touch sensation with 0.05 gm. Monofilament nylon, thermal sensation with a thermal sensitivity testing device, voluntary muscle testing and nerve palpation. At least one abnormality was found in 22 ulnar and 13 median nerves (63% and 37%, respectively). Nerve palpation was the most frequent clinical abnormality, while the other methods had similar frequencies of abnormality. Electrophysiological studies were performed on the ipsilateral side of the leprosy subjects and on 32 age-matched normal subjects. Electrophysiological responses from the leprosy subjects were evaluated by criteria established from normal subject data. Abnormal or absent responses were found in 21/35 ulnar sensory, 12/35 ulnar motor, 9/35 median sensory and 6/35 median motor responses among the leprosy subjects. The most important electrodiagnostic findings were: (i) low sensory amplitudes and (ii) drops in amplitude and NCV over the across-elbow segment of the ulnar nerve. Both clinical and nerve conduction abnormalities were positively associated with duration of leprosy symptoms. The four clinical methods were compared for concordance with nerve conduction data by cross-tabulation. The two sensory measures, monofilaments and the thermal sensitivity device, had the highest concordances. Usefulness of clinical tests for nerve damage in leprosy may vary depending on whether the purpose is for diagnosis, patient education or clinical follow-up.

Leprosy trends in northern Thailand: 1951-1990.

Data of new, previously untreated leprosy patients from 6 northern provinces of Thailand, diagnosed at McKean Rehabilitation Center, Chiang Mai and associated clinics between 1951 and 1990 were analysed. The following trends were found: 1) Decreasing numbers of new, previously untreated patients. 2) Increasing average age of patients at onset and presentation of disease. 3) Decreasing duration between onset and presentation. 4) Increasing percentage of patients presenting within the first year of symptoms. 5) Increasing percentage of paucibacillary cases. 6) Decreasing percentage of patients presenting with deformity. These trends are a reflection of those seen for the whole of Thailand and indicate that leprosy control is being effective. Patients are presenting at an earlier stage than before, with consequent reduction in disability and infectivity. Better usage of chemotherapy since 1976 has helped to reduce the transmission of bacilli from person to person, combined with effective health education activities which have dispelled some wrong ideas about leprosy and encouraged patients to seek help early in the course of the disease. Additional factors related to public health and living standards have also contributed.

Hepatitis B antigen and antibody in patients with leprosy: a study of three resettlement villages in Thailand.

It remains uncertain whether the cellular immune abnormalities of patients with lepromatous leprosy interfere with resolution of hepatitis B virus (HBV) infections. To investigate this question in an area coendemic for the two diseases, we determined the prevalence of hepatitis B surface antigen (HBsAg) and antibody (anti-HBs) in: 1) 204 leprosy patients living in three leprosy resettlement villages; 2) 198 contacts living in the same villages; and 3) 44 newly diagnosed leprosy patients in Thailand. Within the villages, the prevalence of HBsAg positivity was inversely related to age, tended to be more frequent in patients with tuberculoid than lepromatous leprosy, and was similar after age adjustment among persons with and without leprosy. The prevalence of HBV markers found in newly diagnosed patients was similar to that in the villagers. We conclude that extensive HBV transmission had occurred in the resettlement villages and that the natural history of HBV infection was similar in persons with, whether tuberculoid or lepromatous, and without leprosy.