Sistematização e melhoria da assistência à deficiência auditiva na Atenção Primária à Saúde no município de Contagem - MG

O manejo de agravos com baixa mortalidade e alta morbidade, como a deficiência auditiva, constitui um desafio para os sistemas públicos de saúde. Abordá-los com eficiência e de maneira sistematizada na atenção primária à saúde pode otimizar o cuidado ofertado em termos de desfechos clínicos e de custo-efetividade. Objetiva-se com o presente estudo propor estratégias de abordagem da saúde auditiva no contexto da atenção primária, tendo como base a comunidade assistida por uma equipe de saúde da família em Contagem, Minas Gerais. Foram realizadas observação e descrição da assistência municipal à saúde auditiva, revisão bibliográfica e elaboração de projeto de intervenção com base no Método do Planejamento Estratégico Situacional. Como resultado, criou-se um modelo padronizado de cuidados integrais à saúde auditiva na atenção primária, incluindo o desenho das operações e a análise de viabilidade e dos recursos necessários para sua implementação.

Hearing Preservation And Cochlear Implants According To Inner Ear Approach: Multicentric Evaluation.

Electroacoustic stimulation is an excellent option for people with residual hearing in the low frequencies, who obtain insufficient benefit with hearing aids. To be effective, the subject's residual hearing should be preserved during cochlear implant surgery. To evaluate the hearing preservation in patients that underwent implant placement and to compare the results in accordance with the approach to the inner ear. 19 subjects underwent a soft surgical technique, and the electrode MED-EL FLEX™ EAS, designed to be atraumatic, was used. We evaluated pre- and postoperative tonal audiometric tests with an average of 18.4 months after implantation, to measure the rate of hearing preservation. 17 patients had total or partial preservation of residual hearing; 5 had total hearing preservation and two individuals had no preservation of hearing. The insertion of the electrode occurred through a cochleostomy in 3 patients, and in 2 of these there was no hearing preservation; the other 16 patients experienced electrode insertion through a round window approach. All patients benefited from the cochlear implant, even those who are only using electrical stimulation. The hearing preservation occurred in 89.4% of cases. There was no significant difference between the forms of inner ear approach.

Implante coclear em crianças: a visão dos pais

The objective of this study was to analyze the point of view of parents in relation to the cochlear implant, their level of information concerning the implant, its risks and benefits, and their expectations towards their children's future. Ten parents of deaf children candidate for the cochlear implant at Unicamp's Clinical Hospital were interviewed. Based on a qualitative approach, a content analysis showed that the majority of parents seek the cure for deafness, and consequently, the acquisition of speech with the cochlear implant. For these families, the cochlear implant is seen both as the solution to their children's deafness and as a path for a better future. It has been evidenced that during the acquisition of knowledge about the implant, parents experienced anxiety and anguish when faced with the risks and benefits of the procedure, and the need to choose between performing and not performing the cochlear implant.

Variação sazonal da fotossíntese, condutância estomática e potencial da água na folha de laranjeira 'Valência'

Seasonal variation in environmental conditions may influence gas exchange rates as well as water relations in perennial species. This work was carried out to evaluate photosynthetic rates (A), transpiration (E), stomatal conductance (g) and leaf water potential (psi f ) in 'Valencia' orange trees grafted on four different rootstocks. Measurements were made twice a day: from 9h00 to 11h00 a.m. and from 1h00 to 3h00 p.m., during January, March and July. A and g were significantly lower and psif was significantly more negative, in the afternoon. The decrease in A may be related to the reduction in g, due to the increase in the vapor pressure deficit between the air and the leaf (VPDair-leaf ) in the afternoon, when temperatures are higher. In spite of the partial stomatal closure in the afternoon, the values for E were approximately the same as those measured in the morning, due to the increase in the VPDair-leaf . A decrease in A and g could also be noted from January to July, that is, from the hot and humid summer months, to the colder and drier winter ones. It was suggested that the decrease in A and g observed from January through March, may be related to the decrease in plant growth rates, which could have influenced the source-sink relationships, since the climatic conditions for both months were similar. The decrease in A and g showed in July, seems to be related to the decrease in both the night temperature and the growth rate of plants.

Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil

In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients.

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia

Type II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in the biosynthesis of all the classes of steroid hormones. Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants with variable degrees of salt losing. Here we report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child, who was born from consanguineous parents, and presented with ambiguous genitalia and salt losing. The patient carries a homozygous nucleotide c.665C>A change in exon 4 that putatively substitutes the proline at codon 222 for glutamine. Molecular homology modeling of normal and mutant 3β-HSD2 enzymes emphasizes codon 222 as an important residue for the folding pattern of the enzyme and validates a suitable model for analysis of new mutations.

Metabolic evaluation of young women with congenital adrenal hyperplasia

OBJECTIVE: To evaluate insulin resistance and lipid profile in women with congenital adrenal hyperplasia (CAH) caused by classical 21-hydroxylase deficiency (21OHD), and their association with body mass index (BMI) and corticosteroid dosage. SUBJECTS AND METHODS: We assessed BMI, waist circumference, current glucocorticoid dosage, glucose, insulin and lipid profile in eighteen young women (mean ± SD, 19.3 ± 3.0 years) with 21OHD CAH. RESULTS: BMI was normal in 12 patients, 5 of them were overweight, and 1 was obese. Waist circumference was high in 7 patients. Fasting insulin and HOMA-IR were elevated in seven and eight patients, respectively. Total cholesterol and triglycerides were high in only two patients, and HDL-cholesterol was low in four. Insulin resistance was not associated with BMI, waist circumference or glucocorticoid dose. CONCLUSIONS: Young women with 21OHD CAH had infrequent dyslipidemia, but had a higher prevalence of insulin resistance and central obesity, that were independent of BMI or corticosteroid dosage.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. Arq Bras Endocrinol Metab. 2012;56(8):578-85

O aluno portador de visão subnormal na escola regular: desafio para o professor?

Purpose:1) To check self-knowledge and needs for orientation among regular class teachers working with low vision students; 2) To gather information to assist the training on visual deficiency of regular class teachers. Methods: A survey was conducted for the academic year of 1999 among those teachers working in public schools, Campinas/SP/Brazil, of which 11 were municipal and 9 state schools, respectively 79.0% and 90.0% of these schools. A self-administered questionnaire was used as data collection instrument. Results: The sample was composed of 50 teachers with a regular class experience averaging 20 years. Most of them, 94.0%, said that they had no specific preparation in the area of low vision. Only 18 teachers declared to have received some kind of information/orientation in order to work with their low vision students and of those only 15 teachers mentioned the kind of orientation received. The whole group of 50 declared interest in receiving information. From the information/orientation requested 66.0% mentioned extended working class materials, 50.0% visual performance and eye disease of their students and 46.0% visual acuity/visual field. Conclusion: It was detected that teachers of regular classes received none or little information about their low vision students but demonstrated interest in its obtention. It was also shown that those teachers are not prepared to work with visually impaired children.

Central retinal vein thrombosis as an initial manifestation of heterozygous protein C deficiency: case report

The purpose of this paper is to report a case of central retinal vein thrombosis associated with isolated heterozygous protein C deficiency. Acute occlusion of the central retinal vein presents as one of the most dramatic pictures in ophthalmology. It is often a result of both local and systemic causes. A rare systemic cause is heterozygous protein C deficiency, and it usually occurs in combination with other thrombophilic conditions. This case highlights that isolated heterozygous protein C deficiency may be the cause of central retinal vein thrombosis and underscores the importance of its screening in young patients with this ophthalmologic disease.

Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

A case of neuronal ceroid-lipofuscinosis (NCL) is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a) severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b) slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells. The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.

Identidade social e auto conceito do dançarino em cadeira de rodas

Universidade Estadual de Campinas . Faculdade de Educação Física

Adaptação do handebol para a prática em cadeira de rodas

Universidade Estadual de Campinas . Faculdade de Educação Física

O esporte paraolímpico no Brasil : abordagem da sociologia do esporte de Pierre Bourdieu

Universidade Estadual de Campinas . Faculdade de Educação Física

Auto-eficácia docente e motivação para a realização do(a) professor(a) de Educação Física Adaptada

Universidade Estadual de Campinas . Faculdade de Educação Física