ANALISE FAMILIAL DO COMPORTAMENTO IN VITRO DOS MACROFAGOS HUMANOS FRENTE AO MYCOBACTERIUM LEPRAE

The lysogenic capacity of human macrophages facing M. leprae in vitro may be dependent on an important genetic component. Although the familial aggregation of the trait is demonstrated, this is a necessary but not sufficient condition to prove genetic influence. The data do not fit some simple genetic models (autosomal dominant or incompletely dominant gene; dominant or recessive sex-linked gene). The results obtained are consistent with the hypothesis that the macrophages' lysogenic capacity is mainly due to a major gene with variable expressivity. This hypothesis may be too simple to account for the whole variability detected and therefore must be considered a working hypothesis.

Familial malignant osteopetrosis in children: A case report

The clinical, radiological, pathological and laboratory findings of two brothers with autosomal recessive malignant osteopetrosis are presented. Our findings are similar to characteristics previously reported in the literature about patients with osteopetrosis. The 6-year-old male patient was pale and had petechiae on his arms and legs. He also had macrocephalia, splenomegaly, severe pancytopenia, genu valgus, hypocalcemia, amaurosis, cessation of physical development, generalized bone sclerosis and recurrent infections with a history of multiple incidences of acute otitis media. Generalized bone sclerosis and irregular sclerosis of the maxilla and mandible were seen on radiographs. The oral mucosa was apparently normal but permanent tooth eruption was delayed although there was early loss of deciduous teeth. The recommended treatment was blood transfusion and therapy with antibiotics when necessary; a bone marrow transplant was not possible due to lack of a compatible donor.

Desempenho em consciência fonológica, memória operacional, leitura e escrita na dislexia familial

Background: familial dyslexia. Aim: to characterize and compare the phonological awareness, working memory, reading and writing abilities of individuals whose family members are also affected. Method: in this study 10 familial nuclei of natural family relationship of individuals with dyslexia were analyzed. Families of natural individuals living in the west region of the state of São Paulo were selected. Inclusion criteria were: to be a native speaker of the Brazilian Portuguese language, to have 8 years of age or more, to present positive familial history for learning disabilities, That is, to present at least one relative with difficulties in learning. Exclusion criteria were: to present any neurological disorder genetically caused or not, in any of the family members, such as dystonia, extra pyramidal diseases, mental disorder, epilepsy, attention deficit and hyperactivity disorder (ADHA); psychiatric symptoms or conditions; or any other pertinent conditions that could cause errors in the diagnosis. As for the diagnosis of developmental dyslexia, information about the familial history of the adolescents and children was gathered with the parents, so that a detailed pedigree could be delineated. Neurological, psychological, speech-language, and school performance evaluations were made with the individuals and their families. Results: the results of this study suggest that the dyslexic individuals and their respective relatives, also with dyslexia, presented lower performances than the control group in terms of rapid automatic naming, reading, writing and phonological awareness. Conclusion: deficits in phonological awareness, working memory, reading and writing seem to have genetic susceptibility that possibly determine, when in interaction with the environment, the manifestation of dyslexia.

SED-brachydactyly and distinctive speech: Report of a new familial case

Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.

Three new taxa of meliosma (Sabiaceae) neotropical sabiaceae: Three new species and a new variety of meliosma

Three new neotropical species of Sabiaceae, M. robusta from Peru, M. starkii from Mexico, Meliosma cornejoi, and a new variety, M. boliviensis var. sumacensis from Ecuador, are here described and illustrated. © President and Fellows of Harvard College, 2012.

Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening

The purpose of this study it was to evaluate the frequency of Multiple Endocrine Neoplasia type 1 (MEN1) in patients with pituitary adenoma and to perform genetic analysis and familial screening of those individuals afflicted with MEN1. 144 patients with pituitary adenoma at Botucatu Medical School, UNESP-Univ Estadual Paulista, were assessed retrospectively for MEN1 during the years of 2005-2011. The patients were evaluated for the presence of primary hyperparathyroidism (PHP) and enteropancreatic tumors. Genetic analysis was performed for the individuals with clinically diagnosed MEN1. Thirteen patients met the diagnostic criteria for MEN1, but three individuals belong to the same family and they were considered as a single MEN1 event, revealing 7.7 % frequency of MEN1 in this patient group. Genetic analysis showed MEN1 mutations in four index cases: IVS4+1 G>A, IVS3-6 C>T, c.1547insC and a new D180A mutation. One patient did not agree to participate in the genetic study and another one was referred for follow up in other hospital. Only polymorphisms were found in the other individuals, one of which was novel. We identified a high frequency of MEN1 in pituitary adenoma patients. Since PHP is one of the most common MEN1 tumor and patients are mostly asymptomatic, we suggest that all pituitary adenoma patients have their calcium profile analyzed. © 2013 Springer Science+Business Media New York.

Sugar cane variety research for the Caribbean

Includes bibliography

Estudo moleculares das regiões cromossômicas 18p e 18q proximal em portadores de gagueira persistente da familial

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Reduction of infant mortality in Latin America and the Caribbean: uneven progress requiring a variety of responses

Infant mortality has unquestionably declined throughout Latin America over the last decade, even under conditions of low and unstable economic growth and a meagre overall reduction of poverty in the region. The declines in infant mortality vary from one country to another. The persistence of high infant mortality rates is related to low income, teenage pregnancy and lack of access to basic services, as well as to the lack of appropriate health care infrastructure. At the same time, both the rural population as a whole, and the indigenous and Afro-descendent population in particular, has fallen markedly behind, with overall infant mortality rates much higher than among the rest of the population. Moreover, the cause and incidence of death in this age group have been changing according with the changes in neonatal and post-neonatal deaths. Our editorial line-up has created space for opinions from adolescents and youth, as well as from policy experts on the problem, its causes, and approaches to dealing with infant mortality. We also offer succinct information on a broad range of programmes—utilizing various interventions—in different countries of the region regarding maternal and infant care, in an attempt to bring about a reduction in mortality.

Famílias de zona rural e urbana: características e concepções de adolescentes

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

O gene PHF21B como candidato a predisposição familia em familial em cânceres de cabeça e pescoço

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Perfil mutacional do gene APC em pacientes com polipose adenomatosa familial no estado do Pará

O câncer colorretal é um grave problema de saúde pública na região norte, sendo a 3a neoplasia mais frequente entre os homens e a 2a entre as mulheres. Cerca de 10% destes tumores são hereditários e a polipose adenomatosa familial está entre as principais causas destes. Mutações no gene APC são responsáveis pelo desenvolvimento de tumores nestes pacientes e estão presentes desde a fase mais precoce na carcinogênese, além disso, existe uma relação entre o tipo de mutação e apresentação clínica da doença. Até o presente momento não existe uma publicação com o perfil de mutação do gene APC na região norte do país. Este trabalho tem como objetivo principal, identificar o perfil de mutações no gene APC em famílias do estado do Pará. Um total de 15 pacientes foi analisado provenientes de cinco famílias, todos atendidos no UNACON do HUJBB. Foi realizado a extração de DNA do sangue periférico e realizado um sequenciamento direto em um membro de cada família, obtendo desta forma um screening molecular e os demais membros da família foram genotipados pela técnica ARMS. A análise estatística foi realizada pelos softwares que acompanham o próprio produto. Neste estudo foram encontrados mutações nos 15 membros estudados (provenientes das 5 famílias), 40% das quais eram do tipo frameshift, 35% silenciadoras e 20% nonsense. Sendo que 60% de todas as mutações ocorreram na região MCR. Entre as três mutações mais frequentes na literatura, neste estudo foram encontradas duas: códon 1309 (em 40% dos indivíduos) e no códon 1061 (em 10% dos indivíduos). Estes números foram bem diferentes dos encontrados na literatura, reforçando o papel da miscigenação na frequência das mutações. A mutação c.3956delC foi a única encontrada em todas as famílias analisadas, o que pode comportar-se como um forte biomarcador desta síndrome. A avaliação clínica dos pacientes confirmou a correlação genótipo/fenótipo, sendo um fator determinante para o direcionamento clínico e aconselhamento genético. A plataforma confeccionada para análise de mutações pela técnica ARMS será de grande utilidade, já que conseguiu detectar mutações no 15 indivíduos estudados a um custo bem inferior que o sequenciamento direto por PCR.

Perfil da fluência: análise comparativa entre gagueira desenvolvimental persistente familial e isolada

PURPOSE: to evaluate and compare the fluency between the familial and the sporadic persistent developmental stuttering, characterizing the typology and the frequency of the disfluencies, the speech rate and the severity of the stuttering. METHOD: 40 participants aged from 6 to 42 years old, divided in two groups with twenty participants in each one: Familial Persistent Developmental Stuttering and Sporadic Persistent Developmental Stuttering. The procedures used were: clinical and familial history, assessment of fluency and Stuttering Severity Instrument. RESULTS: there were no statistically significant differences between the groups regarding the frequency of stuttering like disfluencies, the flow of syllables and words per minute and the severity of stuttering. It was noted a tendency of the group with familial stuttering to show a bigger variability of the severity of stuttering, going from mild to very severe, whereas in the group with sporadic stuttering, the severity varied from mild to severe. CONCLUSION: this study represents the first effort to the characterization of the speech fluency profile of the subgroups of people who stutter, namely familial persistent developmental stuttering and sporadic persistent developmental stuttering. It is possible to conclude that the speech fluency profile of people who stutter, independently of the familial history, is similar. It is noteworthy that the occurrence of some stuttering-like disfluencies, monosyllabic word repetition, block and intrusion were different between groups.