Quality of life in patients with ileal pouch for ulcerative colitis

INTRODUCTION:proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the standard surgical procedure for the treatment of ulcerative colitis (UC) and is associated with the prospect of cure. Experience gained over the years has demonstrated the occurrence of a high number of complications as well as bowel disorders that can compromise quality of life (QoL).OBJECTIVE:evaluate QoL in patients with IPAA for ulcerative colitis.PATIENTS AND METHODS:the Inflammatory Bowel Disease Questionnaire (IBDQ) was used to assess QoL in patients with IPAA after its validation in Portuguese.RESULTS:thirty-one patients submitted to IPAA by the same group of professionals were evaluated. QoL was classified as regular in all domains evaluated (intestinal and systemic symptoms and emotional and social aspects). There were no differences in relation to gender, type of pouch or postoperative time. However, elderly patients showed a tendency toward lower scores. Having a professional activity was associated with higher scores in systemic symptoms and social aspects (p < 0.05). Patients with ileostomy showed lower values in the domains of systemic symptoms, emotional and social aspects (p <0.05).CONCLUSION:in all domains assessed, patients with IPAA for UC had QoL classified as regular. Ileostomy and lack of professional activity negatively influenced QoL.

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.

Endocrinologia pediátrica 2011

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The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

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

Indicações para ceratoplastia penetrante no Hospital das Clínicas-UNICAMP

PURPOSE: To determine the main causes of penetrating keratoplasty indications at Hospital das Clínicas-UNICAMP (January, 1999 to December, 2003). METHODS: A non-comparative, retrospective series of case studies. The authors reviewed the files of 857 patients who underwent penetrating keratoplasty at Hospital das Clínicas-UNICAMP between 1999-2003 and classified them into different categories according to diagnostic indication for surgery. RESULTS: The age range was between 0-88 years (average 44 years ±1.2). The main causes of penetrating keratoplasty were: keratoconus in 427 cases (49.82%); 152 cases (17.74%) of corneal ulceration (perforated or not); corneal graft failure in 87 cases (10.15%); bullous keratopathy, 72 cases (8.40%); Fuchs dystrophy in 59 cases (6.88%); trachoma complications in 28 cases (3.27%); other causes, 32 (3.74%). In children under 10 years of age, the main cause of penetrating keratoplasty indications was infectious ulcer (77.78%) and between 11-50 years of age, keratoconus was the main cause (71.65%). CONCLUSION: This study was composed of a young population, and the main causes of penetrating keratoplasty were keratoconus and therapeutic keratoplasty.

Eficácia na utilização de córneas no transplante penetrante

PURPOSES: 1) To verify the impact of the creation of the Single Technical Record (STR) at the University of Campinas (Unicamp) Hospital das Clínicas, on the preservation period of corneas which were used in elective penetrating keratoplasties, and 2) to compare the primary failure incidence in cornea penetrating keratoplasties regarding the periods before and after the creation of STR. METHODS: A retrospective study was conducted at the Unicamp Hospital, which evaluated 15 consecutive cornea penetrating keratoplasties between January 1st and April 30th, 2000 and 24 consecutive penetrating keratoplasties between May 1st and September 20th of the same year (corneas under the control of the STR), totaling 39 keratoplasties. RESULTS: The mean time between cornea preparation and transplantation was 3.8 days (±1.78) in the period before STR creation, and 6.0 days (±2.97) after STR creation, representing a 36.7% increase in the preservation time. There was a statistically significant difference (p=0.02) between the two groups. No corneal primary failure was observed among the 39 transplanted patients in both groups. CONCLUSION: Based on the results of this study, it can be concluded that this new concept of the State Transplantation System has caused a statistically significant increase in the conservation period of corneas, which may reduce the period of a clear transplant due to an increased loss of endothelial cells, as well as increase the primary failure incidence or result in a high number of corneas that cannot be used due to having exceeded the preservation time recommended by the literature.

Tratamento dos abscessos intracranianos por trepanopunção

The cases of nine pacients with intracranial abscess operated on by aspiration are reported. Only one patient did not survive. One pacient developed postoperative seizures and, another, hemiparesis. In 5 cases it was necessary a relief of increased intracranial pressure by neurosurgical emergency.

Aneurisma gigante da artéria cerebral média

A case of giant aneurysm of the left middle cerebral artery, in a 28-year-old right-handed woman, successfuly operated is reported. The aneurysm measur- ing 35 x 27 x 23 mm showed clinical manifestations as a space-occupying lesion. The patient recovered completely after the total excision of the aneurysm.

Exostose múltipla hereditária com compressão medular

A case of hereditary multiple exostoses successfully operated is reported. The patient, a 15 year-old white brazilian boy, was admitted with tetraplegia and Babinski's sign. Early diagnosis followed by prompt surgery may prevent permanent spinal cord damage.

A concepção estratégico-tática no handebol : implicações para a formação de jogadores inteligentes

Universidade Estadual de Campinas . Faculdade de Educação Física

Atuação do profissional de educação fisica em serviços locais de saude : o caso de teatro interativo de bonecos no controle da hanseniase

Universidade Estadual de Campinas . Faculdade de Educação Física

Avaliação da posição condilar e disfunção temporomandibular em pacientes com má oclusão de Classe II submetidos à protrusão mandibular ortopédica

OBJETIVO: avaliar a participação da protrusão mandibular ortopédica e da posição condilar na prevalência de sinais e sintomas de disfunção temporomandibular (DTM). METODOLOGIA: a amostra foi composta por 60 indivíduos divididos em 3 grupos, sendo o grupo I correspondente a indivíduos não tratados; o grupo II composto por jovens em tratamento com o Bionator; e o grupo III por jovens já tratados com este aparelho. Os indivíduos da amostra responderam a um questionário relativo aos principais sintomas de DTM, permitindo a classificação dos mesmos de acordo com a presença e severidade dessas disfunções. Esses jovens também se submeteram à avaliação da movimentação mandibular, palpação dos músculos mastigatórios e inspeção de ruídos articulares. Radiografias transcranianas padronizadas das ATMs direita e esquerda foram realizadas, para obtenção do grau de concentricidade condilar. RESULTADOS: os testes ANOVA, Kruskal-Wallis e qui-quadrado foram utilizados para análise dos dados. De acordo com os resultados do questionário anamnésico, 66,67% da amostra foram classificados com ausência de DTM; 30% com DTM leve e apenas 3,33% com DTM moderada, sem diferença entre os grupos estudados (p > 0,05). Quanto à concentricidade condilar, o grupo II apresentou os valores de menor concentricidade (côndilos mais anteriorizados), com diferença estatisticamente significante em relação ao grupo I (p < 0,05). Uma associação entre a concentricidade condilar e a prevalência de DTM, no entanto, não foi encontrada. CONCLUSÃO: a protrusão ortopédica, apesar de alterar a posição dos côndilos, não aumentou a prevalência de DTM na população estudada.

Early treatment of Class III malocclusion: 10-year clinical follow-up

Angle Class III malocclusion has been a challenge for researchers concerning diagnosis, prognosis and treatment. It has a prevalence of 5% in the Brazilian population, and may have a genetic or environmental etiology. This malocclusion can be classified as dentoalveolar, skeletal or functional, which will determine the prognosis. Considering these topics, the aim of this study was to describe and discuss a clinical case with functional Class III malocclusion treated by a two-stage approach (interceptive and corrective), with a long-term follow-up. In this case, the patient was treated with a chincup and an Eschler arch, used simultaneously during 14 months, followed by corrective orthodontics. It should be noticed that, in this case, initial diagnosis at the centric relation allowed visualizing the anterior teeth in an edge-to-edge relationship, thereby favoring the prognosis. After completion of the treatment, the patient was followed for a 10-year period, and stability was observed. The clinical treatment results showed that it is possible to achieve favorable outcomes with early management in functional Class III malocclusion patients.

Dental caries profile in Monte Negro, Amazonian state of Rondônia, Brazil, in 2008

OBJECTIVE: This epidemiological survey assessed the dental caries profile in Monte Negro, a small town in the Amazonian state of Rondônia, Brazil, and its relationship with the northern region, national and global goals for oral health in the years 2000 and 2020. MATERIAL AND METHODS: The groups randomly examined were composed of individuals aged 5, 12, 15 to 19, 35 to 44, 65 to 74 years, living in both rural and urban areas. RESULTS: The means dft (standard deviation) and DMFT (standard deviation) for the groups were, respectively, 3.15 (3.12), 3.41 (2.69), 5.96 (4.19), 16.00 (7.30) and 25.96 (9.82). Caries-free individuals were 34.42%, 14.81% and 8.16% in the preschoolchildren, schoolchildren and adolescent groups, respectively. The Significant Caries Index percentages applied to the two younger groups were 6.65 and 6.70, and they increased to 32.00 in the individuals aged 65 to 74 years. Care Index percentages for adolescents, adults and elderly groups were, respectively, 29.40, 25.00 and 1.41. The dental caries profile in Monte Negro in 2008 shows that, 8 years after the year 2000, no FDI/WHO goal for any age settled in 1982 has been achieved. Dental caries increased with age and the main dental problem of adult and elderly groups was tooth loss. CONCLUSION: Oral health promotion and prevention of oral disease policies are urgent needs. Setting of oral health goals and targets to people living in Monte Negro or Amazonia to be pursuit and achieved in a near future is an important action to do because of the culture, sanitary conditions and socioeconomic aspects of this particular population.