Positron emission tomography in the Rett syndrome

International Nuclear Information System (INIS)

Naidu, S.; Wong, D.F.; Kitt, C.; Wenk, G.; Moser, H.W.

1992-01-01

A consistent constellation of clinical signs and symptoms define the Rett syndrome, the most prominent of which are disorders of movement and tone. Preliminary pathologic and neurochemical data indicate predominant involvement of the nigrostriatal dopaminergic pathways and the cholinergic system of the basal forebrain region. The age of onset differentiates the Rett syndrome from Alzheimer and Parkinson disease with similar lesions. PET scanning makes it possible to relate the chemistry of the brain to function by measuring the number and affinity of neuroreceptors, metabolism in specific brain regions, and provide important determinants of the underlying mechanisms in disease states. (author)

Divorce in families of children with Down Syndrome or Rett Syndrome.

Science.gov (United States)

Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

2015-05-01

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

DEFF Research Database (Denmark)

Schönewolf-Greulich, Bitten; Dunø, Morten; Ravn, Kirstine

2015-01-01

The neurodevelopmental disorder Rett syndrome was first described in 1966 by Andreas Rett, who described girls with loss of speech and hand use displaying characteristic hand stereotypies. Since then, the disease has been linked to mutations in the gene MECP2. However, the basis of the diagnosis...

Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

Science.gov (United States)

Roze, Emmanuel; Cochen, Valérie; Sangla, Sophie; Bienvenu, Thierry; Roubergue, Anne; Leu-Semenescu, Smaranda; Vidaihet, Marie

2007-02-15

Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.

Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPET study with 99Tc(m)-ECD.

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Burroni, L; Aucone, A M; Volterrani, D; Hayek, Y; Bertelli, P; Vella, A; Zappella, M; Vattimo, A

1997-06-01

Rett syndrome is a progressive neurological paediatric disorder associated with severe mental deficiency, which affects only girls. The aim of this study was to determine if brain blood flow abnormalities detected with 99Tc(m)-ethyl-cysteinate-dimer (99Tc[m]-ECD) single photon emission tomography (SPET) can explain the clinical manifestation and progression of the disease. Qualitative and quantitative global and regional brain blood flow was evaluated in 12 girls with Rett syndrome and compared with an aged-matched reference group of children. In comparison with the reference group, SPET revealed a considerable global reduction in cerebral perfusion in the groups of girls with Rett syndrome. A large statistical difference was noted, which was more evident when comparing the control group with girls with stage IV Rett syndrome than girls with stage III Rett syndrome. The reduction in cerebral perfusion reflects functional disturbance in the brain of children with Rett syndrome. These data confirm that 99Tc(m)-ECD brain SPET is sensitive in detecting hypoperfused areas in girls with Rett syndrome that may be associated with brain atrophy, even when magnetic resonance imaging appears normal.

Music and Vibroacoustic Stimulation in People with Rett Syndrome

DEFF Research Database (Denmark)

Bergström-Isacsson, Märith

2011-01-01

Background: Rett syndrome (RTT) is a neurodevelopmental disorder which affects basic body functions including the central control of the autonomic nervous system in the brainstem. Music is used by parents and carers in different situations, e.g. to calm down, to activate, to motivate and in commu......Background: Rett syndrome (RTT) is a neurodevelopmental disorder which affects basic body functions including the central control of the autonomic nervous system in the brainstem. Music is used by parents and carers in different situations, e.g. to calm down, to activate, to motivate...... and in communication. The aim of the study was to examine what effect musical stimuli had on the control functions of the autonomic nervous system, and on cortical emotional reactions, in participants with RTT. Methods: The study included 35 participants with RTT who were referred to the Swedish Rett Center...... (calming) response, sympathetic (activating) response, arousal (alerting) response and unclear response. The analyses were supplemented by case vignettes, where additional physiological parameters were also taken into account. Facial expressions were coded and categorised into positive emotions, negative...

Silent angels the genetic and clinical aspects of Rett syndrome

Directory of Open Access Journals (Sweden)

Dziwota Ewelina

2016-12-01

Full Text Available Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.

What Are the Symptoms of Rett Syndrome?

Science.gov (United States)

... any stage) can include: Loss of ability to grasp and intentionally touch things Loss of ability to ... Rett syndrome rely on feeding tubes.) Disrupted sleep patterns at night (during childhood) and increased sleep (after ...

Abnormal mitochondria in Rett syndrome: one case report.

Science.gov (United States)

Mak, S C; Chi, C S; Chen, C H; Shian, W J

1993-08-01

A 6-year-9-month-old girl with the characteristic features of Rett syndrome is reported. Clinically, she had microcephaly, psychomotor arrest, deterioration of communication, autistic behaviour, loss of language development, gait apraxia and stereotyped hand washing movement. Amino acid and organic acid analysis were normal. An abnormal rise in serum lactate was noted 120 minutes after oral glucose loading. Muscle biopsy was performed and there was no specific finding noted under light microscope. Electron microscopic evaluation revealed mild accumulation of mitochondria at subsarcolemmal area with abnormal tubular cristae. The cause of Rett syndrome remains obscure. Several articles concerning abnormal mitochondrial morphology or respiratory enzymes have been reported. The exact pathogenesis requires further investigation.

Evolving role of MeCP2 in Rett syndrome and autism.

Science.gov (United States)

LaSalle, Janine M; Yasui, Dag H

2009-10-01

Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 binding, methylation and gene expression have demonstrated that MeCP2 binds preferentially to intergenic and intronic regions, and sparsely methylated promoters of active genes. This review compares the evolution of thought within two ‘classic’ epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.

Neurophysiological responses to music and vibroacoustic stimuli in Rett syndrome

DEFF Research Database (Denmark)

Bergström-Isacsson, Märith; Lagerkvist, Bengt; Holck, Ulla

2014-01-01

People with Rett syndrome (RTT) have severe communicative difficulties. They have as well an immature brainstem that implies dysfunction of the autonomic nervous system. Music plays an important role in their life, is often used as a motivating tool in a variety of situations and activities......, and caregivers are often clear about people with RTTs favourites. The aim of this study was to investigate physiological and emotional responses related to six different musical stimuli in people with RTT. The study included 29 participants with RTT who were referred to the Swedish Rett Center for medical...

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Science.gov (United States)

Bebbington, A; Anderson, A; Ravine, D; Fyfe, S; Pineda, M; de Klerk, N; Ben-Zeev, B; Yatawara, N; Percy, A; Kaufmann, W E; Leonard, H

2008-03-11

Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in a population-based cohort. The data set for these analyses was derived from a subset of InterRett cases with subject information collected from the family, the clinician, or both. Individual phenotypic characteristics and clinical severity using three scales were compared among those with eight known recurrent pathogenic MECP2 mutations as well as those with C-terminal deletions (n = 272). Overall, p.R270X and p.R255X were the most severe and p.R133C and p.R294X were the mildest mutations. Significant differences by mutation were seen for individual phenotypic characteristics such as hand use, ambulation, and language. This multicenter investigation into the phenotypic correlates of MECP2 mutations in Rett syndrome has provided a greater depth of understanding than hitherto available about the specific phenotypic characteristics associated with commonly occurring mutations. Although the modifying influence of X inactivation on clinical severity could not be included in the analysis, the findings confirm clear genotype-phenotype relationships in Rett syndrome and show the benefits of collaboration crucial to effective research in rare disorders.

Progression of CT scan findings in Rett syndrome

Energy Technology Data Exchange (ETDEWEB)

Suzuki, Hisaharu; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka (National Center of Neurology and Psychiatry, Kodaira, Tokyo (Japan))

1989-07-01

Progression of the lesions revealed by CT scan was observed in five girls with Rett syndrome. The most distinct and common finding was progressive dilatation of Sylvian fissures, frontal extracerebral space, interhemispheric fissure, and sulci mainly in frontal lobe. It may indicate progressive lesion in the frontal and the temporal lobes. In addition, dilatation of the anterior horns of the lateral ventricles and the third ventricle was noted in some cases. Brainstem and cerebellum were small at any age with some morphological development as the patients became elder. Neither malformations nor abnormalities in density were found in any case. It is concluded that the main lesion of Rett syndrome on CT scan is progressive and localized in the frontal and the temporal lobes. (author).

The characteristics of the patients with Rett syndrome: Case series

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Dutina Aleksandra

2016-01-01

Full Text Available Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011, weight-for-age (r=-0.433 p=0.019 and BMI-for-age (r=-0.433 p=0.019. The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age. The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.

Clinico-lymphographic diagnosis of post-traumatic edema

International Nuclear Information System (INIS)

Chepelenko, G.V.

1989-01-01

Clinico-lymphographic comparisons in various manifestations of posttraumatic edema are presented. Early and delayed stages of chronic lymph flow violations are singled out. Data on distal non-progressing edema above foot edema following bone fractures in the low third of shank, in case of chronic edema of various limb segments occuring on the back-ground of muscle tissue atrophy are given. A clinico-lymphographic classification of posttraumatic edema is developed. Some new information on the value of lymphography in assessment of lymphographic lumen in bone defects, its substitution and elongation is reported

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes

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Hansen eWang

2015-02-01

Full Text Available Autism spectrum disorders (ASDs are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies focused on correcting underlying neural dysfunction. These preclinical discoveries are increasingly translating into exciting human clinical trials. Since there are significant molecular and neurobiological overlaps among ASDs, targeted treatments developed for fragile X and Rett syndromes may be helpful for autism of different etiologies. Here, we review the targeted pharmacological treatment of fragile X and Rett syndromes and discuss related issues in both preclinical studies and clinical trials of potential therapies for the diseases.

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes

Science.gov (United States)

Wang, Hansen; Pati, Sandipan; Pozzo-Miller, Lucas; Doering, Laurie C.

2015-01-01

Autism spectrum disorders (ASDs) are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies focused on correcting underlying neural dysfunction. These preclinical discoveries are increasingly translating into exciting human clinical trials. Since there are significant molecular and neurobiological overlaps among ASDs, targeted treatments developed for fragile X and Rett syndromes may be helpful for autism of different etiologies. Here, we review the targeted pharmacological treatment of fragile X and Rett syndromes and discuss related issues in both preclinical studies and clinical trials of potential therapies for the diseases. PMID:25767435

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.

Science.gov (United States)

Mangatt, Meghana; Wong, Kingsley; Anderson, Barbara; Epstein, Amy; Hodgetts, Stuart; Leonard, Helen; Downs, Jenny

2016-04-14

Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

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Sofia Temudo Duarte

Full Text Available OBJECTIVE: Rett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models. In these models, animals show deficits in brain-derived neurotrophic factor, which is thought to contribute to the pathogenesis of this disease. Neuronal Cation Chloride Cotransporters (CCCs play a key role in GABAergic neuronal maturation, and brain-derived neurotrophic factor is implicated in the regulation of CCCs expression during development. Our aim was to analyse the expression of two relevant CCCs, NKCC1 and KCC2, in the cerebrospinal fluid of Rett syndrome patients and compare it with a normal control group. METHODS: The presence of bumetanide sensitive NKCC1 and KCC2 was analysed in cerebrospinal fluid samples from a control pediatric population (1 day to 14 years of life and from Rett syndrome patients (2 to 19 years of life, by immunoblot analysis. RESULTS: Both proteins were detected in the cerebrospinal fluid and their levels are higher in the early postnatal period. However, Rett syndrome patients showed significantly reduced levels of KCC2 and KCC2/NKCC1 ratio when compared to the control group. CONCLUSIONS: Reduced KCC2/NKCC1 ratio in the cerebrospinal fluid of Rett Syndrome patients suggests a disturbed process of GABAergic neuronal maturation and open up a new therapeutic perspective.

A perspective on "cure" for Rett syndrome.

Science.gov (United States)

Clarke, Angus John; Abdala Sheikh, Ana Paula

2018-04-02

The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any age. However, it may be difficult to strike the right balance between enthusiasm on the one hand and realism on the other. One effect of this has been a fragmentation of the "Rett syndrome community" with some groups giving priority to work aimed at a cure while fewer resources are devoted to medical or therapy-based interventions to enhance the quality of life of affected patients or provide support for their families.Several possible therapeutic approaches are under development that, it is claimed and hoped, may lead to a "cure" for patients with Rett syndrome. While all have a rationale, there are potential obstacles to each being both safe and effective. Furthermore, any strategy that succeeded in restoring normal levels of MECP2 gene expression throughout the brain carries potential pitfalls, so that it will be of crucial importance to introduce any clinical trials of such therapies with great care.Expectations of families for a radical, rational treatment should not be inflated beyond a cautious optimism. This is particularly because affected patients with us now may not be able to reap the full benefits of a "cure". Thus, interventions aimed at enhancing the quality of life of affected patients should not be forgone and their importance should not be minimised.

[Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

NARCIS (Netherlands)

Mercadante, M.T.; Gaag, R.J. van der; Schwartzman, J.S.

2006-01-01

The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative

How Do Health Care Providers Diagnose Rett Syndrome?

Science.gov (United States)

... Research Information Find a Study Resources and Publications Klinefelter Syndrome (KS) Condition Information NICHD Research Information Find a ... Rett syndrome occur with another genetic condition called Klinefelter syndrome , in which a boy has two X chromosomes ...

Adult Phenotypes in Angelman- and Rett-Like Syndromes.

NARCIS (Netherlands)

Willemsen, M.H.; Rensen, J.H.; Schrojenstein Lantman-de Valk, H.M. van; Hamel, B.C.J.; Kleefstra, T.

2012-01-01

BACKGROUND: Angelman- and Rett-like syndromes share a range of clinical characteristics, including intellectual disability (ID) with or without regression, epilepsy, infantile encephalopathy, postnatal microcephaly, features of autism spectrum disorder, and variable other neurological symptoms. The

Managing Scoliosis in a Young Child with Rett Syndrome: A Case Study

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Meir Lotan

2005-01-01

Full Text Available Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. So far, only surgical intervention has succeeded in reversing the development of scoliosis in Rett syndrome.The present study describes a new management approach implemented with a girl with Rett syndrome. The core of the management regime was intensive: asymmetrical activation of trunk muscles through equilibrium reactions. The X-rays accompanying the article (evaluated by four experienced orthopedic surgeons blinded to the intervention process suggested that the intervention was successful in reversing the progress of the scoliosis for the above-mentioned child. Discontinuation of treatment led to severe and rapid deterioration of the spinal curve.Due to the fact that this was a case study, generalization is limited, but we suggest further investigation and studies with this method.

Rett and ICF syndromes: methylation moves into medicine

Indian Academy of Sciences (India)

Two human genetic disorders, Rett and ICF syndromes, have recently been shown to be ... normally until 6–18 months of age, then gradually loose speech and ... (abnormal lateral curvature of the vertebral column), vacant stare, severe ...

Low bone turnover phenotype in Rett syndrome

DEFF Research Database (Denmark)

Roende, Gitte; Petersen, Janne; Ravn, Kirstine

2014-01-01

Background:Patients with Rett syndrome (RTT) are at risk of having low bone mass and low-energy fractures.Methods:We characterised bone metabolism by both bone formation and resorption markers in blood in a RTT population of 61 girls and women and 122 well-matched healthy controls. Levels of N-te...

Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children

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S. Ya. Volgina

2016-01-01

Full Text Available Rett Syndrome is one of the most socially significant neuropsychiatric hereditary diseases in children. This syndrome is mainly found in girls: its frequency is 1:10000–15000. Currently mutations in X-linked gene MESR2 considered as the main cause of the syndrome. Diagnosis of typical and atypical variants of the syndrome is based on the use of clinical criteria, determining gene mutations МЕСР2, CDKL5 and FOXG1. In 2010, the Expert Consortium for Rett syndrome have revised the existing diagnostic criteria for the syndrome and come to a new consensus. If there is a regression of mental development for the diagnosis of Rett syndrome exemplary embodiment only four basic criteria for the diagnosis of atypical variant — two of the four main criteria, and five of the eleven additional criteria. 

Patients with rett syndrome sustain low-energy fractures

DEFF Research Database (Denmark)

Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine

2011-01-01

We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors...

Equinoterapia en niñas con síndrome de Rett

OpenAIRE

Ibáñez Ibáñez, Diana

2013-01-01

El presente estudio tiene como objetivo principal la valoración de los beneficios que la equinoterapia tiene en niñas afectadas con síndrome de Rett, y se llevará a cabo en un centro hípico que reúna las condiciones e instalaciones necesarias para poder realizar las sesiones de tratamiento. Será un estudio cualitativo y transversal, en el que participarán tanto fisioterapeutas expertos en el ámbito de la equinoterapia como niñas con síndrome de Rett que estén siendo tratadas co...

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Science.gov (United States)

Bebbington, A; Percy, A; Christodoulou, J; Ravine, D; Ho, G; Jacoby, P; Anderson, A; Pineda, M; Ben Zeev, B; Bahi-Buisson, N; Smeets, E; Leonard, H

2014-01-01

Objectives This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. Methods Cases were selected from InterRett, an international database and from the population-based Australian Rett Syndrome Database. Cases (n=832) were included if they had a pathogenic MECP2 mutation in which the nature of the amino acid change was known. Three severity scale systems were used, and individual aspects of the phenotype were also compared. Results Lower severity was associated with C-terminal deletions (n=79) compared to all other MECP2 mutations (e.g. Pineda scale C-terminals mean 15.0 (95% CI 14.0–16.0) vs 16.2 (15.9–16.5). Cases with C-terminal deletions were more likely to have a normal head circumference (odds ratio 3.22, 95% CI 1.53 – 6.79) and weight (odds ratio 2.97, 95% CI 1.25–5.76). Onset of stereotypies tended to be later (median age 2.5 years vs 2 years, pmiddle of the range. In terms of individual aspects of phenotype growth and ability to ambulate appear to be particular strengths. By pooling data internationally this study has achieved the case numbers to provide a phenotypic profile of C-terminal deletions in Rett syndrome. PMID:19914908

Recent advances in understanding synaptic abnormalities in Rett syndrome [version 1; referees: 2 approved

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Michael Johnston

2015-12-01

Full Text Available Rett syndrome is an extremely disabling X-linked nervous system disorder that mainly affects girls in early childhood and causes autism-like behavior, severe intellectual disability, seizures, sleep disturbances, autonomic instability, and other disorders due to mutations in the MeCP2 (methyl CpG-binding protein 2 transcription factor. The disorder targets synapses and synaptic plasticity and has been shown to disrupt the balance between glutamate excitatory synapses and GABAergic inhibitory synapses. In fact, it can be argued that Rett syndrome is primarily a disorder of synaptic plasticity and that agents that can correct this imbalance may have beneficial effects on brain development. This review briefly summarizes the link between disrupted synaptic plasticity mechanisms and Rett syndrome and early clinical trials that aim to target these abnormalities to improve the outcome for these severely disabled children.

Positron emission tomography in the Rett syndrome; Clinical, biochemical and pathologicl correlates

Energy Technology Data Exchange (ETDEWEB)

Naidu, S [Kennedy Institute, Baltimore, MD (United States); Wong, D F; Kitt, C; Wenk, G; Moser, H W

1992-05-01

A consistent constellation of clinical signs and symptoms define the Rett syndrome, the most prominent of which are disorders of movement and tone. Preliminary pathologic and neurochemical data indicate predominant involvement of the nigrostriatal dopaminergic pathways and the cholinergic system of the basal forebrain region. The age of onset differentiates the Rett syndrome from Alzheimer and Parkinson disease with similar lesions. PET scanning makes it possible to relate the chemistry of the brain to function by measuring the number and affinity of neuroreceptors, metabolism in specific brain regions, and provide important determinants of the underlying mechanisms in disease states. (author).

Seizures and pain uncertainty associated with parenting stress and Rett syndrome.

Science.gov (United States)

Byiers, Breanne J; Tervo, Raymond C; Feyma, Timothy J; Symons, Frank J

2014-04-01

Data were collected parenting stress, adaptive behavior, pain, and health issues from the caregivers of 35 girls and women with Rett syndrome (mean age = 20.3). A majority (60%) of parents reported stress in the clinical range on at least 1 subscale of the Parenting Stress Index-Short Form. Seizures and uncertainty about their daughter's gastrointestinal pain experience were significantly associated with higher levels of parenting stress. No other child factors (adaptive behavior, age, residential status) were significantly related to parenting stress. Factors related to chronic health concerns (seizures, ambiguous pain presentation) may be important when considering family stress issues in relation to general outcomes for girls with Rett syndrome and related developmental disorders.

Dermopathy of Graves′ disease: Clinico-pathological correlation

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Sagili Vijaya Bhaskar Reddy

2012-01-01

Full Text Available Dermopathy of Graves′ disease is a classical, but uncommon extrathyroidal manifestation of Graves′ disease. The images of a typical case of dermopathy of Graves′ disease are presented along with clinico-pathological correlation.

Normal Reactions to Orthostatic Stress in Rett Syndrome

Science.gov (United States)

Larsson, Gunilla; Julu, Peter O. O.; Engerstrom, Ingegerd Witt; Sandlund, Marlene; Lindstrom, Britta

2013-01-01

The aim of this study was to investigate orthostatic reactions in females with Rett syndrome (RTT), and also whether the severity of the syndrome had an impact on autonomic reactions. Based on signs of impaired function of the central autonomic system found in RTT, it could be suspected that orthostatic reactions were affected. The orthostatic…

Alternative Therapeutic Intervention for Individuals with Rett Syndrome

Directory of Open Access Journals (Sweden)

Meir Lotan

2007-01-01

Full Text Available The individual with Rett syndrome (RS displays an array of challenging difficulties in all areas of daily living. Since there is no cure for the disorder at this moment, parents of the individual with Rett search for different interventional modalities that will improve the condition and quality of life for their child. During the last few years, many individuals with RS have experienced different kinds of interventions. This paper presents these methods with relevant case stories for others to share the possibilities. This paper reviews the following interventions: animal-assisted therapy, such as dolphin therapy and dog-assisted therapy; auditory integration training; hyperbaric chamber; manual therapy, such as acupuncture/acupressure, aromatherapy, craniosacral therapy, Mayo facial release, Treager massage, chiropractor, and Reiki; mental modification techniques, such as Lovas and cognitive rehabilitation; motoric interventions, such as advanced biomechanical rehabilitation, patterning/Doman-DeLacato approach, and yoga. The present paper is not a recommendation for any of the above-mentioned techniques, but merely a review of different interventions available for the inquisitive parent of the individual with RS.

Incontinence in Individuals with Rett Syndrome: A Comparative Study

NARCIS (Netherlands)

Giesbers, S.A.H.; Didden, H.C.M.; Radstaake, M.; Korzilius, H.P.L.M.; Gontard, A. von; Lang, R.; Smeets, E.E.J.; Curfs, L.M.G.

2012-01-01

Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control

Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome

NARCIS (Netherlands)

Halbach, Nicky S J; Smeets, Eric E J; Bierau, Jörgen; Keularts, Irene M L W; Plasqui, Guy; Julu, Peter O O; Engerström, Ingegerd Witt; Bakker, Jaap A.; Curfs, Leopold M G

2012-01-01

Despite their good appetite, many females with Rett syndrome (RTT) meet the criteria for moderate to severe malnutrition. Although feeding difficulties may play a part in this, other constitutional factors such as altered metabolic processes are suspected. Irregular breathing is a common clinical

MeCP2 Rett mutations affect large scale chromatin organization

DEFF Research Database (Denmark)

Gupta, Noopur Agarwal; Becker, Annette; Jost, K Laurence

2011-01-01

Rett syndrome is a neurological, X chromosomal-linked disorder associated with mutations in the MECP2 gene. MeCP2 protein has been proposed to play a role in transcriptional regulation as well as in chromatin architecture. Since MeCP2 mutant cells exhibit surprisingly mild changes in gene...... expression, we have now explored the possibility that Rett mutations may affect the ability of MeCP2 to bind and organize chromatin. We found that all but one of the 21 missense MeCP2 mutants analyzed accumulated at heterochromatin and about half of them were significantly affected. Furthermore, two......-thirds of all mutants showed a significantly decreased ability to cluster heterochromatin. Three mutants containing different proline substitutions (P101H, P101R and P152R) were severely affected only in heterochromatin clustering and located far away from the DNA interface in the MeCP2 methyl-binding domain...

Síndrome de Rett: un nuevo reto para los pediatras. Revisión bibliográfica

Directory of Open Access Journals (Sweden)

Carlos Coronel Carvajal

2002-06-01

Full Text Available Se ofrece una revisión actualizada sobre el síndrome de Rett, un trastorno neurodegenerativo con un cuadro clínico característico. Ocurre solo en niñas, la mayoría de los casos son esporádicos y es genéticamente determinado. Recientemente se ha hallado en pacientes estudiando la proteína MECP2, que codifica el gen en la banda 8 de la región 2 del brazo largo del cromosomo X (Xq 28, lo cual sugiere mutación de novo de carácter dominante ligada al cromosoma X. El diagnóstico del síndrome de Rett se lleva a cabo por la observación y la valoración clínica, pues no existen marcadores bioquímicos, ni genéticos que faciliten la determinación del síndrome, y su origen se desconoce; se utilizan los criterios establecidos internacionalmente que incluyen criterios necesarios, complementarios y componentes de exclusión. El síndrome de Rett debe sospecharse en pacientes del sexo femenino, con diagnóstico de parálisis cerebral infantil o retardo mental idiopático al apoyarse en criterios establecidos internacionalmente.An updated literature review on Rett syndrome is presented. This neurodegenerative disorder with a characteristic clinical picture only occurs in girls, most of the cases are sporadic and genetically determined. It has been recently found in patients after studying the MECP2 protein that codifies the gene in band 8 of region 2 in the long arm of X chromosome(Xq 28, which suggests a dominant X chromosome-linked dominant de novo mutation. The diagnosis of Rett syndrome is made based on observation and clinical assessment since there are no biochemical or genetic markers facilitating the determination of the syndrome and besides its origin is unknown. The internationally established criteria including necessary, complementary criteria and exclusion elements are used. Rett syndrome should be considered in female patients with infantile cerebral palsy or idiopathic mental retardation, with the support of internationally set

Clinico-epidemiologic features of oculocutaneous albinism in ...

African Journals Online (AJOL)

Background: Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine ...

Communication Assessment for Individuals with Rett Syndrome: A Systematic Review

Science.gov (United States)

Sigafoos, Jeff; Kagohara, Debora; van der Meer, Larah; Green, Vanessa A.; O'Reilly, Mark F.; Lancioni, Giulio E.; Lang, Russell; Rispoli, Mandy; Zisimopoulos, Dimitrios

2011-01-01

We reviewed studies that aimed to determine whether behaviors, such as body movements, vocalizations, eye gaze, and facial expressions, served a communicative function for individuals with Rett syndrome. A systematic search identified eight studies, which were summarized in terms of (a) participants, (b) assessment targets, (c) assessment…

Brief Report: Systematic Review of Rett Syndrome in Males

Science.gov (United States)

Reichow, Brian; George-Puskar, Annie; Lutz, Tara; Smith, Isaac C.; Volkmar, Fred R.

2015-01-01

Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…

Clinico-histopathologic types of maxillofacial malignancies with ...

African Journals Online (AJOL)

Clinico-histopathologic types of maxillofacial malignancies with emphasis on sarcomas: A 10-year review. ... Sarcomas peaked in the third decade with 70% occurring below the age of 40 years. The maxilla and the mandible were the most afflicted sites in the maxillofacial region accounting for 52%. The patients on average

[Clinico-roentgenological semiotics of the chest damage in polytrauma].

Science.gov (United States)

Zamiatin, P N; Panchenko, E V; Grigor'ian, G O; Goloshchapova, E V

2006-10-01

There are presented the main clinico-roentgenological signs of the chest damage in the injured persons, suffering polytrauma, according to the data from the specialized department of traumatic shock and polytrauma.

Evoking communication in Rett syndrome: comparisons with conversations and games in mother-infant interaction.

Science.gov (United States)

Burford, B; Trevarthen, C

1997-01-01

Girls with Rett syndrome retain a responsiveness with care-givers that corresponds in many respects with the preverbal communication observed with normal infants. This has characteristic rhythmic patterns and phrases, mutual imitation, reciprocal emotional phases and rudimentary oral, vocal and gestural expressions. After individuals with Rett syndrome have passed the critical stage in dissolution of their attention, co-ordination and voluntary control, they retain positive orientation to human faces and eyes with smiling. Video analyses show that they can engage with rhythms and phrases of conversation, sometimes showing a sense of humour and sensitivity to playful teasing. They respond to repeated patterns of expression in rhythmic/prosodic play and to certain forms in music. It is suggested that sensitive and appropriately attuned support for the rudimentary motives for human contact that survive in Rett syndrome can help stabilisation of self-regulatory states, alleviate panic and confusion and facilitate learning. The effects of the disorder may be a consequence of a genetic fault in the elaboration of an Intrinsic Motive Formation in the reticular core of the embryo brain, leading to dysregulation of differentiation in higher cognitive systems and learning, but leaving partially intact motive principles for human intersubjective response.

Two new Rett syndrome families and review of the literature

DEFF Research Database (Denmark)

Ravn, Kirstine; Roende, Gitte; Duno, Morten

2011-01-01

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome...

Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.

Science.gov (United States)

Djukic, Aleksandra; Valicenti McDermott, Maria; Mavrommatis, Kathleen; Martins, Cristina L

2012-07-01

Consistently observed "strong eye gaze" has not been validated as a means of communication in girls with Rett syndrome, ubiquitously affected by apraxia, unable to reply either verbally or manually to questions during formal psychologic assessment. We examined nonverbal cognitive abilities and basic features of visual processing (visual discrimination attention/memory) by analyzing patterns of visual fixation in 44 girls with Rett syndrome, compared with typical control subjects. To determine features of visual fixation patterns, multiple pictures (with the location of the salient and presence/absence of novel stimuli as variables) were presented on the screen of a TS120 eye-tracker. Of the 44, 35 (80%) calibrated and exhibited meaningful patterns of visual fixation. They looked longer at salient stimuli (cartoon, 2.8 ± 2 seconds S.D., vs shape, 0.9 ± 1.2 seconds S.D.; P = 0.02), regardless of their position on the screen. They recognized novel stimuli, decreasing the fixation time on the central image when another image appeared on the periphery of the slide (2.7 ± 1 seconds S.D. vs 1.8 ± 1 seconds S.D., P = 0.002). Eye-tracking provides a feasible method for cognitive assessment and new insights into the "hidden" abilities of individuals with Rett syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

Clinico-Electroencephalography Pattern and Determinant of 2-year ...

African Journals Online (AJOL)

Clinico-Electroencephalography Pattern and Determinant of 2-year Seizure Control in Patients with Complex Partial Seizure Disorder in Kano, Northwestern ... Ability to predict seizure control on first diagnosis can be very useful in the management of patients with CPS. ... Data were analyzed using STATA version 10.

The Relationship between "MECP2" Mutation Type and Health Status and Service Use Trajectories over Time in a Rett Syndrome Population

Science.gov (United States)

Young, Deidra; Bebbington, Ami; de Klerk, Nick; Bower, Carol; Nagarajan, Lakshmi; Leonard, Helen

2011-01-01

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over 6 years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use…

Molecular analysis of MECP2 gene in Egyptian patients with Rett ...

African Journals Online (AJOL)

Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome. ... Egyptian Journal of Medical Human Genetics ... This study represents one of the limited MECP2 molecular analyses done on Egyptian patients with RTT, in which direct sequencing of MECP2 coding region in 10 female Egyptian patients ...

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Science.gov (United States)

Záhoráková, D; Langová, M; Brožová, K; Laštůvková, J; Kalina, Z; Rennerová, L; Martásek, P

2016-01-01

The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. A clear genotype-phenotype correlation has not been established due to an insufficient number of reported cases. The aim of this study was to analyse the CDKL5 gene in Czech patients with early-onset seizures and Rett-like features. We performed mutation screening in a cohort of 83 individuals using high-resolution melting analysis, DNA sequencing and multiplex ligation- dependent probe amplification. Molecular analyses revealed heterozygous pathogenic mutations in three girls with severe intellectual disability and intractable epilepsy starting at the age of two months. All three identified mutations, c.637G>A, c.902_977+29del105, and c.1757_1758delCT, are novel, thus significantly extending the growing spectrum of known pathogenic CDKL5 sequence variants. Our results support the importance of genetic testing of the CDKL5 gene in patients with early-onset epileptic encephalopathy and Rett-like features with early-onset seizures. This is the first study referring to molecular defects of CDKL5 in Czech cases.

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Science.gov (United States)

Das, Dhanjit Kumar; Raha, Sarbani; Sanghavi, Daksha; Maitra, Anurupa; Udani, Vrajesh

2013-02-15

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, primarily affecting females and characterized by developmental regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. Rett syndrome is caused by mutations within methyl CpG-binding protein 2 (MECP2) gene. Over 270 individual nucleotide changes which cause pathogenic mutations have been reported. However, eight most commonly occurring missense and nonsense mutations account for almost 70% of all patients. We screened 90 individuals with Rett syndrome phenotype. A total of 19 different MECP2 mutations and polymorphisms were identified in 27 patients. Of the 19 mutations, we identified 7 (37%) frameshift, 6 (31%) nonsense, 14 (74%) missense mutations and one duplication (5%). The most frequent pathogenic changes were: missense p.T158M (11%), p.R133C (7.4%), and p.R306C (7.4%) and nonsense p.R168X (11%), p.R255X (7.4%) mutations. We have identified two novel mutations namely p.385-388delPLPP present in atypical patients and p.Glu290AlafsX38 present in a classical patient of Rett syndrome. Sequence homology for p.385-388delPLPP mutation revealed that these 4 amino acids were conserved across mammalian species. This indicated the importance of these 4 amino acids in structure and function of the protein. A novel variant p.T479T has also been identified in a patient with atypical Rett syndrome. A total of 62 (69%) patients remained without molecular genetics diagnosis that necessitates further search for mutations in other genes like CDKL5 and FOXG1 that are known to cause Rett phenotype. The majority of mutations are detected in exon 4 and only one mutation was present in exon 3. Therefore, our study suggests the need for screening exon 4 of MECP2 as first line of diagnosis in these patients. Copyright © 2012 Elsevier B.V. All rights reserved.

Intraocular osseous metaplasia. A clinico-pathological study

OpenAIRE

Vemuganti Geeta; Honavar Santosh; Jalali Subhadra

2002-01-01

Purpose: To evaluate the clinico-pathologic features of intraocular osseous metaplasia. Methods: Pathology specimens of enucleated eyes submitted to the ophthalmic pathology service at a tertiary eye-care referral center between January 1995 and June 1999 were studied for intraocular osseous metaplasia. Specific histopathologic features noted in specimens with osseous metaplasia were the presence of retinal detachment, gliosis, retinal pigment epithelial hyperplasia, drusen, epiretinal membra...

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Science.gov (United States)

Das, Dhanjit Kumar; Mehta, Bhakti; Menon, Shyla R; Raha, Sarbani; Udani, Vrajesh

2013-03-01

Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Both the classic and atypical forms of Rett syndrome are primarily due to mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common features of generally early-onset seizures and mental retardation. CDKL5 is known as serine/threonine protein kinase 9 (STK9) and is mapped to the Xp22 region. It has a conserved serine/threonine kinase domain within its amino terminus and a large C-terminal region. Disease-causing mutations are distributed in both the amino terminal domain and in the large C-terminal domain. We have screened the CDKL5 gene in 44 patients with atypical Rett syndrome who had tested negative for MECP2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations. Two of these novel mutations p.V966I and p.A1011V were missense and p.H589H a silent mutation. Other known mutations identified were p.V999M, p.Q791P and p.T734A. Sequence homology for all the mutations revealed that the two mutations (p.Q791P and p.T734A) were conserved across species. This indicated the importance of these residues in structure and function of the protein. The damaging effects of these mutations were analysed in silico using PolyPhen-2 online software. The PolyPhen-2 scores of p.Q791P and p.T734A were 0.998 and 0.48, revealing that these mutations could be deleterious and might have potential functional effect. All other mutations had a low score suggesting that they might not alter the activity of CDKL5. We have also analysed the position of the mutations in the CDKL5 protein and found that all the mutations were present in the C-terminal domain of the protein. The C-terminal domain is required for

Variant of Rett syndrome and CDKL5 gene

DEFF Research Database (Denmark)

Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt

2012-01-01

UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have...... been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all...

DXA measurements in rett syndrome reveal small bones with low bone mass

DEFF Research Database (Denmark)

Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine

2011-01-01

Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients...

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Science.gov (United States)

Das, Dhanjit Kumar; Jadhav, Vaishali; Ghattargi, Vikas C; Udani, Vrajesh

2014-03-15

Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by the progressive loss of intellectual functioning, fine and gross motor skills and communicative abilities, deceleration of head growth, and the development of stereotypic hand movements, occurring after a period of normal development. The classic form of RTT involves mutation in MECP2 while the involvement of CDKL5 and FOXG1 genes has been identified in atypical RTT phenotype. FOXG1 gene encodes for a fork-head box protein G1, a transcription factor acting primarily as transcriptional repressor through DNA binding in the embryonic telencephalon as well as a number of other neurodevelopmental processes. In this report we have described the molecular analysis of FOXG1 gene in Indian patients with Rett syndrome. FOXG1 gene mutation analysis was done in a cohort of 34 MECP2/CDKL5 mutation negative RTT patients. We have identified a novel mutation (p. D263VfsX190) in FOXG1 gene in a patient with congenital variant of Rett syndrome. This mutation resulted into a frameshift, thereby causing an alteration in the reading frames of the entire coding sequence downstream of the mutation. The start position of the frameshift (Asp263) and amino acid towards the carboxyl terminal end of the protein was found to be well conserved across species using multiple sequence alignment. Since the mutation is located at forkhead binding domain, the resultant mutation disrupts the secondary structure of the protein making it non-functional. This is the first report from India showing mutation in FOXG1 gene in Rett syndrome. Copyright © 2014 Elsevier B.V. All rights reserved.

Engaging and interacting through improvised music making with girls and wormen with Rett Syndrome

DEFF Research Database (Denmark)

Wigram, Anthony Lewis

2003-01-01

Music is a communicative medium that is effective in arousing and sustaining attention and communicative engagement with girsl and women with Rett Syndrome. Timing, expectation, anticipation and musical structure combine to stimuloate turn-taking, intentional communication and pleasure reactions...

Rett syndrome: EEG presentation.

Science.gov (United States)

Robertson, R; Langill, L; Wong, P K; Ho, H H

1988-11-01

Rett syndrome, a degenerative neurological disorder of girls, has a classical presentation and typical EEG findings. The electroencephalograms (EEGs) of 7 girls whose records have been followed from the onset of symptoms to the age of 5 or more are presented. These findings are tabulated with the Clinical Staging System of Hagberg and Witt-Engerström (1986). The records show a progressive deterioration in background rhythms in waking and sleep. The abnormalities of the background activity may only become evident at 4-5 years of age or during stage 2--the Rapid Destructive Stage. The marked contrast between waking and sleep background may not occur until stage 3--the Pseudostationary Stage. In essence EEG changes appear to lag behind clinical symptomatology by 1-3 years. An unexpected, but frequent, abnormality was central spikes seen in 5 of 7 girls. They appeared to be age related and could be evoked by tactile stimulation in 2 patients. We hypothesize that the prominent 'hand washing' mannerism may be self-stimulating and related to the appearance of central spike discharges.

Síndrome de Rett: estudo retrospectivo e prospectivo de 28 pacientes

Directory of Open Access Journals (Sweden)

Bruck Isac

2001-01-01

Full Text Available No período entre Novembro 1982 e Maio 1999, 28 crianças com Síndrome de Rett foram seguidas por um período médio de 6 anos e 2 meses.O início da regressão do desenvolvimento psicomotor ocorreu entre 5 e 20 meses.Os 19 casos de síndrome de Rett típica apresentavam períodos pré e perinatal normais,e evoluíram com perda das habilidades previamente adquiridas, retardo psicomotor e estereotipias de mãos; 16 tinham desaceleração do crescimento craniano e 12 tinham marcha anormal. Nove pacientes foram casos atípicos: 2 formas frustras, 2 congênitas, 3 com crises precoces, 1 com fala preservada e 1 sendo do sexo masculino. A epilepsia esteve presente em 21 pacientes com crises predominantemente parciais e a droga de escolha foi a carbamazepina (15 pacientes. Na avaliação inicial a maioria dos pacientes estava distribuída em estágios II e III da síndrome e evolutivamente passaram aos estágios III e IV, sendo que 3 faleceram.

PTP1B: a new therapeutic target for Rett syndrome

OpenAIRE

Tautz, Lutz

2015-01-01

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that is characterized by successive loss of acquired cognitive, social, and motor skills and development of autistic behavior. RTT affects approximately 1 in 10,000 live female births and is the second most common cause of severe mental retardation in females, after Down syndrome. Currently, there is no cure or effective therapy for RTT. Approved treatment regimens are presently limited to supportive management of specific physica...

Clinico- Pathological Study Of Ichthyosis Vulgaris

Directory of Open Access Journals (Sweden)

Nandy Utpal

1997-01-01

Full Text Available A clinico- pathological study of 28 cases of ichthyosis vulgaris appeared with in the age of 5 years. The presence of the disease since birth was also found. While most (24 patients showed a diminution of severity in summer with an aggravation during winter, 4 patients followed the opposite seasonal pattern. Only in 4 patients, fine scales in the scalp were detected. One patient showed an affection of flexures. There was also a low occurrence of palmo- planter hyperkeratosis, follicular keratosis, fissuring of hands and feet and atopy.

Clinico-pathological features of kidney disease in diabetic cases.

Science.gov (United States)

Furuichi, Kengo; Shimizu, Miho; Okada, Hirokazu; Narita, Ichiei; Wada, Takashi

2018-03-21

Diabetic kidney disease is the major cause of end-stage kidney disease in developed countries. However, the onset of kidney disorder and the progression pattern of kidney dysfunction and proteinuria greatly vary cases by cases. Therefore, risk classification with clinical data and pathological findings is important. Recent clinico-pathological study with kidney biopsy samples from diabetic patients revealed that pathological changes of diabetic nephropathy are characteristic and have special impacts on prognosis in each clinical stage. Moreover, comparison of the clinico-pathological findings of diabetic nephropathy with hypertensive nephrosclerosis revealed that there are few differences in their pathological findings in cases with low albuminuria and preserved estimated glomerular filtration rate (eGFR). Because it is so difficult to clearly distinguish pure kidney lesions caused by diabetes and kidney lesions due to effects other than diabetes, it is vital that these overlapped pathological findings be confirmed on kidney biopsy in cases of early stage diabetes. Further research is warranted regarding the pathogenesis of diabetic nephropathy and indication of kidney biopsy in diabetic cases.

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene

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Fendri-Kriaa, Nourhene, E-mail: nourhene.fendri@gmail.com [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Hsairi, Ines [Service de Neurologie Infantile, C.H.U. Hedi Chaker de Sfax (Tunisia); Kifagi, Chamseddine [Laboratoire internationale associe LIA135, Centre de Biotechnologie de Sfax (Tunisia); Ellouze, Emna [Service de Neurologie Infantile, C.H.U. Hedi Chaker de Sfax (Tunisia); Mkaouar-Rebai, Emna [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Triki, Chahnez [Service de Neurologie Infantile, C.H.U. Hedi Chaker de Sfax (Tunisia); Fakhfakh, Faiza [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)

2011-06-03

Highlights: {yields} Sequencing of the MECP2 gene, modeling and comparison of the two variants were performed in a Tunisian classical Rett patient. {yields} A double-mutation: a new and de novo mutation c.535C > T and the common one c.763C > T of the MECP2 gene was identified. {yields} The P179S transition may change local electrostatic properties which may affect the function and stability of the protein MeCP2. -- Abstract: Rett syndrome is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. The aim of this study was to perform a mutational analysis of the MECP2 gene in a classical Rett patient by sequencing the corresponding gene and modeling the found variants. The results showed the presence of a double-mutation: a new and de novo mutation c.535C > T (p.P179S) and the common c.763C > T (p.R255X) transition of the MECP2 gene. The p.P179S mutation was located in a conserved amino acid in CRIR domain (corepressor interacting region). Modeling results showed that the P179S transition could change local electrostatic properties by adding a negative charge due to serine hydroxyl group of this region of MeCP2 which may affect the function and stability of the protein. The p.R255X mutation is located in TRD-NLS domain (transcription repression domain-nuclear localization signal) of MeCP2 protein.

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene

International Nuclear Information System (INIS)

Fendri-Kriaa, Nourhene; Hsairi, Ines; Kifagi, Chamseddine; Ellouze, Emna; Mkaouar-Rebai, Emna; Triki, Chahnez; Fakhfakh, Faiza

2011-01-01

Highlights: → Sequencing of the MECP2 gene, modeling and comparison of the two variants were performed in a Tunisian classical Rett patient. → A double-mutation: a new and de novo mutation c.535C > T and the common one c.763C > T of the MECP2 gene was identified. → The P179S transition may change local electrostatic properties which may affect the function and stability of the protein MeCP2. -- Abstract: Rett syndrome is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. The aim of this study was to perform a mutational analysis of the MECP2 gene in a classical Rett patient by sequencing the corresponding gene and modeling the found variants. The results showed the presence of a double-mutation: a new and de novo mutation c.535C > T (p.P179S) and the common c.763C > T (p.R255X) transition of the MECP2 gene. The p.P179S mutation was located in a conserved amino acid in CRIR domain (corepressor interacting region). Modeling results showed that the P179S transition could change local electrostatic properties by adding a negative charge due to serine hydroxyl group of this region of MeCP2 which may affect the function and stability of the protein. The p.R255X mutation is located in TRD-NLS domain (transcription repression domain-nuclear localization signal) of MeCP2 protein.

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

Science.gov (United States)

Hagebeuk, Eveline E O; van den Bossche, Renilde A S; de Weerd, Al W

2013-05-01

In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. In four genetically confirmed female patients with CDKL5 mutations (age range 2-15 y), the presence of breathing and sleep abnormalities was evaluated using the validated Sleep Disturbance Scale for Children and polysomnography (PSG). The Sleep Disturbance Scale for Children indicated disorders of initiating and maintaining sleep, daytime somnolence, and sleep breathing disorders. In one patient, PSG showed central apnoeas during sleep: her total apnoea-hypopnoea index (AHI) was 4.9, of which the central AHI was 3.4/h. When awake, central apnoeas were present in two of the four female children (central AHI 28/h and 41/h respectively), all preceded by hyperventilation. PSG showed low rapid eye movement (REM) sleep (9.7-18.3%), frequent awakenings, and low sleep efficiency (range 59-78%). Episodic hyperventilation followed by central apnoeas was present while awake in two of four patients. This may indicate failure of brainstem respiratory centres. In addition, low REM sleep, frequent arousals (not caused by apnoeas/seizures), and low sleep efficiency were present. Similar to Rett syndrome, in patients with CDKL5 mutations PSG seems warranted to evaluate breathing and sleep disturbances. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Assessment and management of nutrition and growth in Rett syndrome

Science.gov (United States)

Leonard, Helen; Ravikumara, Madhur; Baikie, Gordon; Naseem, Nusrat; Ellaway, Carolyn; Percy, Alan; Abraham, Suzanne; Geerts, Suzanne; Lane, Jane; Jones, Mary; Bathgate, Katherine; Downs, Jenny

2014-01-01

Objectives We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. Methods Initial draft recommendations were created based upon literature review and 34 open-ended questions where the literature was lacking. Statements and questions were made available to an international, multi-disciplinary panel of clinicians in an online format and a Microsoft Word formatted version of the draft via email. Input was sought using a 2-stage modified Delphi process to reach consensus agreement. Items included clinical assessment of growth, anthropometry, feeding difficulties and management to increase caloric intake, decrease feeding difficulties and consideration of gastrostomy. Results Agreement was achieved on 101/112 statements. A comprehensive approach to the management of poor growth in Rett syndrome is recommended that takes into account factors such as feeding difficulties and nutritional needs. A BMI of approximately the 25th centile can be considered as a reasonable target in clinical practice. Gastrostomy is indicated for very poor growth, if there is risk of aspiration and if feeding times are prolonged. Conclusions These evidence- and consensus-based recommendations have the potential to improve care of nutrition and growth in a rare condition and stimulate research to improve the current limited evidence base. PMID:24084372

Sleep Disturbance in Children with Rett Syndrome: A Qualitative Investigation of the Parental Experience

Science.gov (United States)

McDougall, Allyson; Kerr, Alison M.; Espie, Colin A.

2005-01-01

Background: Sleep problems in children with intellectual disability can be precipitated and maintained by intrinsic and external factors. The present study comprised a qualitative investigation of the experiences of parents of children with Rett syndrome, a neurodevelopmental disorder where sleep disturbance is common. Method: Audio-taped…

Prevalence and Clinico-Pathology of Ketosis in Dairy Cows in Tigray ...

African Journals Online (AJOL)

Tadesse

An investigation to study the prevalence and clinico-pathology of ketosis in dairy cows ... The clinical observations in ketotic cows were anorexia, refusal to .... The decrease in milk yield was 36-100% in 5 cases followed by 30-36% in 5 cases.

Physical and mental health of mothers caring for a child with Rett syndrome.

Science.gov (United States)

Laurvick, Crystal L; Msall, Michael E; Silburn, Sven; Bower, Carol; de Klerk, Nicholas; Leonard, Helen

2006-10-01

Our goal was to investigate the physical and mental health of mothers who care for a child with Rett syndrome. We assessed maternal physical and mental health by using the SF-12 version 1 physical component summary and mental component summary scores as the outcome measures of interest. Mothers (n = 135) of children with Rett syndrome completed the SF-12 measure as part of the Australian Rett Syndrome Study in 2002. The analysis investigated linear relationships between physical and mental health scores and maternal, family, and child characteristics. Mothers ranged in age from 21 to 60 years and their children from 3 to 27 years. Nearly half of these mothers (47.4%) indicated that they worked full-time or part-time outside the home, and 41% had a combined family (gross) income of health demonstrated that the following factors were positively associated with better maternal physical health: the mother working full-time or part-time outside the home, having some high school education, having private health insurance, the child not having breathing problems in the last 2 years, the child not having home-based structured therapy, and high scores on the Family Resource Scale (indicating adequacy of time resources for basic and family needs). The resultant model for mental health demonstrated that the following factors were positively associated with better maternal mental health: the mother working full-time or part-time outside the home, the child not having a fracture in the last 2 years, lesser reporting of facial stereotypes and involuntary facial movements, being in a well-adjusted marriage, and having low stress scores. Our study suggests that the most important predictors of maternal physical and emotional health are child behavior, caregiver demands, and family function.

Varied clinico-radiological presentations of transmigrated canines

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Ishita Gupta

2015-01-01

Full Text Available Canine is one of the most commonly impacted teeth in the dental arch. An unerupted permanent canine crossing the midline is called transmigration and is an unusual event. We report nine cases of impacted canine transmigration. Maxillary canine transmigration, bilateral transmigration, and transmigration associated with odontoma are rare presentations. This article discusses the varied clinico-radiologic presentations, etiology, and treatment options of transmigration. It also emphasizes the importance of panoramic radiographs for evaluation of over-retained deciduous canines or missing permanent canines.

Students perception about the clinico-anatomical conferences as a teaching methodology

International Nuclear Information System (INIS)

Saeed, K.; Baptist, M.; Mukhtar, F.

2015-01-01

Anatomy has always been considered as an essential basis for clinical sciences. In recent decades there has been an increased trend towards incorporation of clinical problems in the teaching of anatomy. To promote clinical knowledge clinico-anatomical conferences have been conducted in our department for the last five years. This study has been undertaken to determine perception of medical students regarding these conferences and to formulate recommendations for their improvement based on feedback obtained from students. Method: A cross-sectional study was conducted from December 2013 to January 2014 at the Lahore Medical and Dental College (LMDC), Lahore. A sample of 200 students of first and second year MBBS classes was selected for the study through convenience sampling technique. A 5-point Likert scale ranging from 1 (strongly agree) to 5 (strongly disagree) was used to determine students perception about clinic-anatomical conferences, using a self-administered questionnaire. Data was analysed using SPSS-19.0. Results: Out of total 144 (72%) students were of the opinion that clinico-anatomical conferences were a good source of clinical knowledge, 126 (63%) opined that these conferences promoted understanding rather than memorization, 122 (61%) found them interesting, and 15 (30%) found improvement in their grades in the subject of anatomy after attending the conferences. Conclusion: The clinico-anatomical conferences were found interesting and reported to be a good source of clinical knowledge. It is recommended that these conferences should be conducted frequently, made interactive and patients should be presented as case studies during the conferences. (author)

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

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Allou, L; Julia, S; Amsallem, D; El Chehadeh, S; Lambert, L; Thevenon, J; Duffourd, Y; Saunier, A; Bouquet, P; Pere, S; Moustaïne, A; Ruaud, L; Roth, V; Jonveaux, P; Philippe, C

2017-03-01

Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next-generation sequencing (NGS) to evaluate for mutations in known or new candidate genes in patients with variant forms of Rett or Rett-like phenotypes of unknown molecular aetiology. In the first step, we used NGS with a custom panel including MECP2, CDKL5, FOXG1, MEF2C and IQSEC2. In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. This missense was maternally inherited with opposite allele expression ratios in the proband and her mother. In the asymptomatic mother, the mutated copy of the CDKL5 gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 encoding the potassium channel Kv 1.2 in a girl with infantile-onset seizures variant of RTT. Our study expands the genetic heterogeneity of RTT and RTT-like phenotypes. Moreover, we report the first familial case of CDKL5-related disease. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations

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J Gordon Millichap

2006-08-01

Full Text Available Four young boys with neonatal onset of encephalopathy, a progressive course, and MECP2 mutations are reported from the University of Alabama, Birmingham, AL Symptoms suggestive of Rett syndrome included failure to thrive, respiratory insufficiency, microcephaly, hypotonia, movement disorder, with myoclonic, dyskinetic, and choreiform patterns, and repetitive face scratching or nose rubbing stereotypies.

Prevalência de megas em necrópsias realizadas no triângulo mineiro no período de 1954 a 1988

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Edison Reis Lopes

1989-12-01

Full Text Available Dentre 1708 necrópsias de chagásicos crônicos, de um total de 4690, diagnosticamos 273 megas. Destes o mais freqüente foi o megacólon, seguido pelo megaesôfago, ocupando a associação megacólon e megaesôfago o terceiro lugar. Discutem-se e comparam-se os achados com outros de ordem clinico-epidemiológica e anatomopatológica. Confirmando dados da literatura, nossos achados atuais mostram, que a exemplo do que sucede na cardiopatia chagásica, o megacólon e o megaesôfago predominam no sexo masculino, discutindo-se os fatores que poderiam explicar a razão desse fato.

Achados neuro-urológicos da síndrome de Williams: relato de caso

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TOBIAS-MACHADO MARCOS

1998-01-01

Full Text Available A síndrome de Williams (SW é doença relativamente rara, caracterizada por retardo mental e psicomotor de graus variados, facies característica, anomalias cardiovasculares, hipercalcemia e disfunções orgânicas múltiplas. Os achados urológicos desta entidade, apesar ocorrerem em até 40% dos casos, têm sido pouco abordados na literatura. Apresentamos o caso de uma paciente de 6 anos de idade, com diagnóstico de SW e que há 3 anos tem apresentado sintomas de polaciúria e urge-incontinência. A investigação revelou divertículos vesicais e hiperatividade detrusora, tratada com sucesso com oxibutimina. Ressaltamos a importância da investigação urológica, descrevemos os principais achados e discutimos a fisiopatologia e a abordagem terapêutica, a qual permite melhora das condições clínicas e sociais desses pacientes.

A qualitative motion analysis study of voluntary hand movement induced by music in patients with Rett syndrome

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Tohshin Go

2009-10-01

Full Text Available Tohshin Go1, Asako Mitani21Center for Baby Science, Doshisha University, Kizugawa, Kyoto, Japan; 2Independent Music Therapist (Poco A Poco Music Room, Tokyo, JapanAbstract: Patients with Rett syndrome are known to respond well to music irrespective of their physical and verbal disabilities. Therefore, the relationship between auditory rhythm and their behavior was investigated employing a two-dimensional motion analysis system. Ten female patients aged from three to 17 years were included. When music with a simple regular rhythm started, body rocking appeared automatically in a back and forth direction in all four patients who showed the same rocking motion as their stereotyped movement. Through this body rocking, voluntary movement of the hand increased gradually, and finally became sufficient to beat a tambourine. However, the induction of body rocking by music was not observed in the other six patients who did not show stereotyped body rocking in a back and forth direction. When the music stopped suddenly, voluntary movement of the hand disappeared. When the music changed from a simple regular rhythm to a continuous tone without an auditory rhythm, the periodic movement of both the hand and body prolonged. Auditory rhythm shows a close relationship with body movement and facilitates synchronized body movement. This mechanism was demonstrated to be preserved in some patients with Rett syndrome, and stimulation with music could be utilized for their rehabilitation.Keywords: Rett syndrome, music, auditory rhythm, stereotyped movement, body rocking, voluntary movement

Achados ultra-sonográficos abdominais em pacientes com dengue Abdominal ultrasound findings in patients with dengue fever

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Karen Amaral do Vabo

2004-06-01

Full Text Available OBJETIVO: Apresentar os achados ultra-sonográficos abdominais em pacientes com dengue e compará-los aos descritos na literatura. MATERIAIS E MÉTODOS: Foram realizados exames ultra-sonográficos abdominais de 38 pacientes, 25 do sexo feminino e 13 do sexo masculino, com idade média de 35 anos, com diagnóstico de dengue sorologicamente confirmado. Os achados foram comparados com os descritos na literatura. RESULTADOS: Os achados ultra-sonográficos mais relevantes foram espessamento difuso da parede da vesícula biliar em 18 casos (47,4%, líquido livre na cavidade abdominal e/ou pélvica em 12 (31,6%, esplenomegalia em 11 (28,9%, hepatomegalia em 10 (26,3% e líquido pericolecístico em 10 (26,3%. Vinte e seis por cento dos pacientes apresentaram exames ultra-sonográficos normais. CONCLUSÃO: Os achados ultra-sonográficos abdominais são uma ferramenta adicional útil na confirmação de casos suspeitos de dengue hemorrágica e na detecção precoce da gravidade e da progressão da doença, sendo de extrema importância para o radiologista o conhecimento destes possíveis achados.OBJECTIVE: To review the abdominal ultrasound findings in patients with serologically proven dengue fever and to compare the results with data from the literature. MATERIALS AND METHODS: Thirty-eight patients with serologically proven dengue fever, 25 female and 13 male, mean age of 35 years, were submitted to abdominal ultrasound. The ultrasound findings were compared with data from the literature. RESULTS: The most relevant ultrasound findings were diffuse gallbladder wall thickening in 18 cases (47.4%, abdominal and/or pelvic free fluid in 12 (31.6%, splenomegaly in 11 (28.9%, hepatomegaly in 10 (26.3% and perivesicular fluid in 10 (26.3%. Twenty-six percent of the patients had normal abdominal ultrasound. CONCLUSION: Abdominal sonography is a useful additional diagnostic tool for the confirmation of suspected cases of dengue hemorrhagic fever and for the

Rett Syndrome: Crossing the Threshold to Clinical Translation

Science.gov (United States)

Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.

2016-01-01

Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

Science.gov (United States)

Many postnatal onset neurological disorders such as autism spectrum disorders (ASDs) and intellectual disability are thought to arise largely from disruption of excitatory/inhibitory homeostasis. Although mouse models of Rett syndrome (RTT), a postnatal neurological disorder caused by loss-of-functi...

Caracterização das habilidades funcionais na síndrome de Rett Characterization of functional abilities in Rett syndrome

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Carlos Bandeira de Mello Monteiro

2009-12-01

Full Text Available O objetivo deste estudo foi identificar as áreas de maior comprometimento nas habilidades funcionais na síndrome de Rett (SR. Foram avaliadas 64 pacientes que preenchiam os critérios para a forma clássica da doença, com idade entre 2 e 26 anos. Foi aplicado o Inventário de avaliação pediátrica de incapacidade (PEDI que contém 197 itens nas áreas de autocuidado, mobilidade e função social. Dentre as 73 atividades da área de autocuidado, 52 (71,2% não foram realizadas por qualquer paciente; na mobilidade, dentre as 59 atividades propostas, 8 (13,5%; e na área de função social, dentre as 65 atividades, 50 (76,9% não foram realizadas por paciente alguma. O desempenho médio ajustado em escala de 0 a 100 para a área de autocuidado foi de 8,9/100, variando de 0 a 19; na área de mobilidade, foi de 30,2/100, variando de 1 a 44; e na de função social, 5,2/100, com variação de 0 a 14. Foi possível verificar fortes correlações entre a área de autocuidado e as de mobilidade e função social; no entanto, entre as áreas de mobilidade e função social não foi detectada correlação significativa. Infelizmente, devido à gravidade da síndrome, o menor comprometimento da mobilidade, comparado ao das áreas de autocuidado e função social, não traz vantagens adaptativas ou maior independência às pacientes com SR.The purpose of this study was to determine the areas of greater impairment in functional abilities of patients with Rett syndrome. Sixty-four patients aged 2 to 26 years old, who filled out criteria for the classic form of the disease, were assessed by the Pediatric Evaluation of Disability Inventory (PEDI of which 197 items are grouped in the areas of self-care, mobility, and social function. From the 73 activities in self-care area, 52 (71.2% were not accomplished by any patient; in mobility area, among the 59 proposed activities, 8 (13.5%; and in social function area, from 65 activities, 50 (76.9% could not be

Kvinners rett til liv og helse : en studie av abortloven i Nicaragua

OpenAIRE

Salvesen, Camilla Holst

2009-01-01

Sammenhengen mellom internasjonale menneskerettigheter og nasjonal lovgivning er utgangspunktet for denne oppgaven som handler om endringen i Nicaraguas abortlov. Tidligere var det, som i de aller fleste land i verden, tillat å ta såkalt terapeutisk abort- i tilfeller der kvinnens liv og helse står i fare. Mot slutten av 2006 ble denne loven endret. Flere advokater, leger og menneskerettighetsforkjempere hevder lovendringen er i strid med menneskerettighetene, slik som for eksempel rett til l...

Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.

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Carlos Bueno

Full Text Available Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others suggest that MeCP2 post-transcriptional processing generates multiple molecular forms linked to cell signaling, but so far they have not been properly analyzed in relation to Rett syndrome experimental models. The purpose of this study is to advance understanding of multiple MeCP2 immunoreactive bands in control neural cells and p.T158M MeCP2e1 mutant cells. We have generated stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Application of N- and C- terminal MeCP2 antibodies, and also, RFP antibody minimized concerns about nonspecific cross-reactivity, since they react with the same antigen at different epitopes. We report the existence of multiple MeCP2 immunoreactive bands in control cells, stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Also, MeCP2 immunoreactive bands differences were found between wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Slower migration phosphorylated band around 70kDa disappeared in p.T158M MeCP2e1-RFP mutant expressing cells. These data suggest that threonine 158 could represent an important phosphorylation site potentially involved in protein function. Our results clearly indicate that MeCP2 antibodies have no cross-reactivity with similar epitopes on others proteins, supporting the

Transtornos invasivos do desenvolvimento não-autísticos: síndrome de Rett, transtorno desintegrativo da infância e transtornos invasivos do desenvolvimento sem outra especificação Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

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Marcos T Mercadante

2006-05-01

Full Text Available A categoria "transtorno invasivos do desenvolvimento" inclui o autismo, a síndrome de Asperger, a síndrome de Rett, o transtorno desintegrativo da infância e uma categoria residual denominada transtornos invasivos do desenvolvimento sem outra especificação. Nesta revisão, a síndrome de Rett e o transtorno desintegrativo da infância, que são categorias bem definidas, serão discutidas, assim como as categorias não tão bem definidas que foram incluídas no grupo transtornos invasivos do desenvolvimento sem outra especificação. Diferentes propostas de categorização têm sido feitas, algumas baseadas em abordagem fenomenológica descritiva, outras baseadas em outras perspectivas teóricas, tais como a neuropsicologia. As propostas atuais são apresentadas e discutidas, seguidas por avaliações críticas sobre as vantagens e desvantagens desses conceitos.The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative disorder, which are well-defined categories, will be discussed, as well as the not well defined categories that have been included in the Pervasive Developmental Disorder Not Otherwise Specified group. Different proposals of categorization have been created, some of which based on descriptive phenomenological approach, and others based upon other theoretical perspectives, such as neuropsychology. Current proposals are presented and discussed, followed by critical appraisals on the clinical advantages and disadvantages of these concepts.

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

DEFF Research Database (Denmark)

Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris

2016-01-01

OBJECTIVES: We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS: An initial guidelines draft was created which included statements based upon literature review and 11 open-ended que...

Psychological Well-Being of Mothers and Siblings in Families of Girls and Women with Rett Syndrome

Science.gov (United States)

Cianfaglione, Rina; Hastings, Richard P.; Felce, David; Clarke, Angus; Kerr, Michael P.

2015-01-01

Few published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters' behavioral phenotype, current health, and behavior problems, and their own and a sibling's well-being. Mothers…

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

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Percy, Alan K; Neul, Jeffrey L; Glaze, Daniel G; Motil, Kathleen J; Skinner, Steven A; Khwaja, Omar; Lee, Hye-Seung; Lane, Jane B; Barrish, Judy O; Annese, Fran; McNair, Lauren; Graham, Joy; Barnes, Katherine

2010-12-01

Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria.

Management of a severe forceful breather with Rett syndrome using carbogen.

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Smeets, Eric E J; Julu, Peter O O; van Waardenburg, Dick; Engerström, Ingegerd Witt; Hansen, Stig; Apartopoulos, Flora; Curfs, Leopold M G; Schrander-Stumpel, Connie T R M

2006-11-01

We have used a novel neurophysiological technique in the NeuroScope system in combination with conventional electroencephalography (EEG) to monitor both brainstem and cortical activity simultaneously in real-time in a girl with Rett syndrome. The presenting clinical features in our patient were severe sleep disturbances, irregular breathing in the awake state dominated by Valsalva's type of breathing followed by tachypnoea and very frequent attacks of seizures and vacant spells. Our novel neurophysiological data showed that the patient was a Forceful Breather according to the breathing categories in Rett syndrome. She had frequent abnormal spontaneous brainstem activation (ASBA) preceded by severe attacks of hypocapnoea, which was caused by a combination of Valsalva's type of breathing and tachypnoea and all these together were responsible for the seizures and non-epileptic vacant spells. The ASBA was not detectable in conventional EEG and there were no epileptiform changes in the EEG during the seizures and vacant spells caused by the hypocapnic attacks, therefore these were pseudo-seizures. The record of brainstem activity confirmed that these were autonomic events, a kind of "brainstem epilepsy". We successfully treated the sleep disturbance with Pipamperone, a 5-hydroxytryptophan antagonist of receptor type 2 and we prevented the severe hypocapnoea during Valsalva's type of breathing and during tachypnoea using carbogen (a mixture of 5% carbon dioxide and 95% oxygen), which we gave by inhalation. Our treatment drastically reduced the autonomic events, promoted whole night sleep and significantly improved the quality of life in our patient. She can now participate in normal family activity which was previously impossible before treatment.

Onychomycosis: Clinico-mycologic study of 130 patients from Himachal Pradesh, India

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Gupta Mudita

2007-01-01

Full Text Available Background: Onychomycosis is a common nail infection caused by dermatophytes, yeast or other nondermatophyte molds and has diverse clinical presentations. Although common in this part of the country, no significant clinico-mycologic data is available. Objectives: This study was carried out to document the clinico-mycologic pattern of onychomycosis in Himachal Pradesh (India. Methods: All consecutive patients of onychomycosis diagnosed clinically during March 2005 to February 2006 were studied for clinical forms, number of nails involved and severity of infection. The clippings from the most severely affected nails were subjected to potassium hydroxide (KOH mounts for direct microscopy and fungal culture on Sabouraud′s dextrose agar. Results: These 130 patients (M:F 98:32 were between 8-76 years of age (mean 41.35 ± 14.98 years. The prevalence of onychomycosis was higher among farmers and office workers (20% each. Finger or toe nails were exclusively involved in 56.9 and 32.3% patients respectively while these were involved concurrently in the rest of the 10.8% patients. Distal and lateral subungual onychomycosis seen in 73.1% of the specimens was the most common clinical type. KOH- and culture-positivity were recorded in 59.2 and 37.6% cases respectively. Dermatophytes and yeast (Candida albicans were isolated in 40.8% each of the cultured nail specimens while nondermatophytic molds (NDM were cultured in 18.6% of the samples. Various dermatophytes cultured were Trichophyton rubrum (32.6%, T. mentagrophytes (6.1% and T. verrucosum (2.1% respectively. Aspergillus spp. (6.1% was the most commonly isolated NDM while other detected molds were Acremonium spp., Fusarium spp,, Scopulariopsis spp., Curvularia spp. and Penicillium marneffei. Peripheral vascular disorders (7.69%, occupational trauma (13.8%, close association with animals (60.78% and a family history of onychomycosis (26.15% were a few of the predisposing factors identified. Conclusion

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

DEFF Research Database (Denmark)

Vitezic, Morana; Bertin, Nicolas; Andersson, Robin

2014-01-01

BACKGROUND: Mutations in three functionally diverse genes cause Rett Syndrome. Although the functions of Forkhead box G1 (FOXG1), Methyl CpG binding protein 2 (MECP2) and Cyclin-dependent kinase-like 5 (CDKL5) have been studied individually, not much is known about their relation to each other...... reveal the predominantly used transcription start sites (TSSs) for each gene including novel transcription start sites for FOXG1. We show that FOXG1 expression is poorly correlated with the expression of MECP2 and CDKL5. We identify promoter shapes for each TSS, the predicted location of enhancers...

[Epigenome: what we learned from Rett syndrome, a neurological disease caused by mutation of a methyl-CpG binding protein].

Science.gov (United States)

Kubota, Takeo

2013-01-01

Epigenome is defined as DNA and histone modification-dependent gene regulation system. Abnormalities in this system are known to cause various neuro-developmental diseases. We recently reported that neurological symptoms of Rett syndrome, which is an autistic disorder caused by mutations in methyl-CpG binding protein 2 (MeCP2), was associated with failure of epigenomic gene regulation in neuronal cells, and that clinical differences in the identical twins with Rett syndrome in the differences in DNA methylation in neuronal genes, but not caused by DNA sequence differences. Since central nervus system requires precise gene regulation, neurological diseases including Alzheimer and Parkinson diseases may be caused by acquired DNA modification (epigenomic) changes that results in aberrant gene regulation as well as DNA sequence changes congenitally occurred (mutation).

[Peculiarities of clinico-neurological signs of the intervertebral discs protrusions in lumbar portion of vertebral column in patients of various age].

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Khyzniak, M V; Pryĭmak, E V

2013-11-01

Clinico-neurological signs of the discogenic pain syndromes, caused by intervertebral disc (IVD) protrusion in a lumbar portion of vertebral column, were analyzed. The strict indications were substantiated for application of the puncture treatment methods for the discogenic pain syndromes in patients of various ages. Clinico-neurological signs of the IVD protrusions constitute the important criterion while the treatment method selection. Differentiated application of the puncture methods permits to improve the treatment results in the patients of various age.

Is it possible to diagnose Rett syndrome before classical symptoms become obvious?

DEFF Research Database (Denmark)

Bisgaard, Anne-Marie; Schönewolf-Greulich, Bitten; Ravn, Kirstine

2015-01-01

BACKGROUND/PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder that affects mainly females; it results in multiple disabilities and carries a risk of medical comorbidities. Early diagnosis is important to help establish the best treatment opportunities and preventive care in order to slow...... down the progression of symptoms. We wanted to test our hypothesis that it is possible to diagnose RTT before the classical symptoms become obvious. METHODS: We analysed development and symptoms before and at the time of the RTT diagnosis, as well as the symptoms that triggered MECP2 mutation analysis...

Neurophysiological responses to music and vibroacoustic stimuli in Rett syndrome.

Science.gov (United States)

Bergström-Isacsson, Märith; Lagerkvist, Bengt; Holck, Ulla; Gold, Christian

2014-06-01

People with Rett syndrome (RTT) have severe communicative difficulties. They have as well an immature brainstem that implies dysfunction of the autonomic nervous system. Music plays an important role in their life, is often used as a motivating tool in a variety of situations and activities, and caregivers are often clear about people with RTTs favourites. The aim of this study was to investigate physiological and emotional responses related to six different musical stimuli in people with RTT. The study included 29 participants with RTT who were referred to the Swedish Rett Center for medical brainstem assessment during the period 2006-2007. 11 children with a typical developmental pattern were used as comparison. A repeated measures design was used, and physiological data were collected from a neurophysiological brainstem assessment. The continuous dependent variables measured were Cardiac Vagal Tone (CVT), Cardiac Sensitivity to Baroreflex (CSB), Mean Arterial Blood Pressure (MAP) and the Coefficient of Variation of Mean Arterial Blood Pressure (MAP-CV). These parameters were used to categorise brainstem responses as parasympathetic (calming) response, sympathetic (activating) response, arousal (alerting) response and unclear response. The results showed that all participants responded to the musical stimuli, but not always in the expected way. It was noticeable that both people with and without RTT responded with an arousal to all musical stimuli to begin with. Even though the initial expressions sometimes changed after some time due to poor control functions of their brainstem, the present results are consistent with the possibility that the RTT participants' normal responses to music are intact. These findings may explain why music is so important for individuals with RTT throughout life. Copyright © 2014 Elsevier Ltd. All rights reserved.

Síndrome de Rett: 50 años de historia de un trastorno aun no bien conocido Rett syndrome: 50 years' history of a still not well known condition

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Jaime Campos-Castello

2007-01-01

Full Text Available Desde que fue descrito por primera vez por Andreas Rett hace 50 años, el síndrome de Rett (SR ha sido objeto de muchas investigaciones, sin embargo continúa siendo un trastorno aún no bien conocido. Presentamos nuestra propia experiencia y una revisión de la literatura sobre el SR. Se trata de un trastorno del neurodesarrollo, dominante ligado a X, que afecta casi siempre a mujeres, la mayoría de los casos de forma esporádica. El diagnóstico de SR debe hacerse en base a la observación clínica. Las principales características son la aparición de un retraso mental, cambios conductuales, estereotipias, pérdida del lenguaje y, sobre todo, del uso propositivo de las manos, aparición de una apraxia de la marcha, presencia de alteraciones de la respiración y, frecuentemente, crisis epilépticas. Los criterios diagnósticos consensuados internacionalmente son aquí revisados. El SR se debe en la mayoría de casos a mutaciones del gen MECP2, si bien una proporción de casos atípicos puede estar causada por mutaciones de CDKL5, particularmente la variante con epilepsia precoz. Sin embargo, los mecanismos patogénicos moleculares no son bien conocidos, así como la relación entre las mutaciones de MECP2 y otros trastornos del desarrollo. Revisamos también los hallazgos de neuroimagen, neuropatológicos y neurobioquímicos descritos en el SR. Respecto al tratamiento, aparte del sintomático, no hay ninguno que se haya mostrado eficaz. Un trabajo reciente abre perspectivas terapéuticas futuras al haber demostrado mediante un modelo animal de ratón la reversión de los síntomas neurológicos mediante la activación de la expresión de MeCP2.Since it was first described by Andrea Rett 50 years ago, Rett syndrome (RS has been the subject of further investigations, nonetheless it continues to be a not well known condition. Our own experience and an updated literature review on RS is presented. RS is a severe dominant X chromosome

How Facial Expressions in a Rett Syndrome Population Are Recognised and Interpreted by Those around Them as Conveying Emotions

Science.gov (United States)

Bergstrom-Isacsson, Marith; Lagerkvist, Bengt; Holck, Ulla; Gold, Christian

2013-01-01

Rett syndrome (RTT) is a neurodevelopmental disorder, including autonomic nervous system dysfunctions and severe communication impairment with an extremely limited ability to use verbal language. These individuals are therefore dependent on the capacity of caregivers to observe and interpret communicative signals, including emotional expressions.…

[The clinico-psychopathological differentiation of schizoaffective psychoses with a predominance of affective disorders].

Science.gov (United States)

Korenev, A N

1994-01-01

Basing on the clinico-psychopathological analysis of 43 patients with an affect-dominant form of schizoaffective psychosis, their typological division has been suggested. The interrelations of clinical types of delusional disturbances with affective disorders, their polarity, congruent and noncongruent delusions were shown. The discussion covers differential-diagnostic characteristics of affective states in schizoaffective and affective psychoses.

Dysphagia in Rett Syndrome: A Descriptive Study.

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Mezzedimi, Chiara; Livi, Walter; De Felice, Claudio; Cocca, Serena

2017-09-01

Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

Science.gov (United States)

Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt; Calabrese, Olga; Felloni, Beatrice; Scusa, Maria Flora; Di Marco, Pietro; Borelli, Paolo; Bonuccelli, Ubaldo; Julu, Peter O O; Nielsen, Jytte Bieber; Morin, Bodil; Hansen, Stig; Gobbi, Giuseppe; Visconti, Paola; Pintaudi, Maria; Edvige, Veneselli; Romanelli, Anna; Bianchi, Fabrizio; Casarano, Manuela; Battini, Roberta; Cioni, Giovanni; Ariani, Francesca; Renieri, Alessandra; Benincasa, Alberto; Delamont, Robert S; Zappella, Michele

2012-02-01

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope. Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype. The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

DEFF Research Database (Denmark)

Schönewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Møller, Rikke S

2018-01-01

The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Ret...

IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients

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Giorgio Pini

2012-01-01

Full Text Available Rett syndrome (RTT is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2. Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1, are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3 IGF1, cross the blood brain barrier, and (1–3 IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy. This study shows that there are no risks associated with IGF1 administration.

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

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Sartori, Stefano; Di Rosa, Gabriella; Polli, Roberta; Bettella, Elisa; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, Alessandra

2009-02-01

Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de novo, mutation truncates the large CDKL5 COOH-terminal region, thought to be crucial for the proper sub-cellular localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early-onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures. (c) 2009 Wiley-Liss, Inc.

Miopatia miotubular: estudo clinico, eletrofisiologico e histologico de um caso

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José L. Alonso

1981-12-01

Full Text Available São apresentados os resultados dos exames clínicos, eletrofisiológicos e do estudo do ponto motor, da imunofluorescência, da histoquímica e da ultrami-croscopia da biópsia muscular de um caso de miopatia miotubular. São discutidos estes resultados em relação aos achados de 56 casos desta moléstia consignados na literatura até 1978, sendo dada enfase à etiopatogenia.

Occipito-atlanto-axial osteoarthritis: a cross sectional clinico-radiological prevalence study in high risk and general population.

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Badve, Siddharth A; Bhojraj, Shekhar; Nene, Abhay; Raut, Abhijit; Ramakanthan, Ravi

2010-02-15

A cross-sectional clinico-radiologic evaluation of occipito-atlantoaxial (OC1C2) region of 2 population groups. Determine the prevalence of OC1C2 osteoarthritis in porters involved in carrying loads on the head and general male population. Describe its clinico-radiologic manifestations. In addition to age, head loading is a known cause of degeneration affecting the occipito-cervical region. The impact of head loading in the population aged between third and sixth decade is unknown. Head loading is a common custom in the developing countries. Study group (n = 107) included randomly selected male porters from railway stations who underwent computed tomography (CT) study of the OC1C2 region, plain radiographs of the cervical spine and detailed clinical examination. Control group (n = 107) included randomly selected male patients undergoing CT scan study for diseases of paranasal sinuses with coincidental screening of OC1C2 region along with clinical assessment. The data were analyzed using SPSS 15 software. Mean age for study group was 32.6 years and controls was 34.6 years (P = 0.156). In the study group, duration of occupational exposure was 10.9 (+/-8.7) years; 81.3% porters being symptomatic with an age of 33.4 (+/-9.6) years. Radiologic prevalence of OC1C2 osteoarthritis in study group was 91.6% and in control group was 6.8%; age of affected individuals was 33.4 (+/-9.3) and 47.9 (+/-8.0) years, respectively. Most common complaint was suboccipital neck pain (69.7%); while the CT finding was decreased joint space with sclerosis and irregularity of the margins (81.3%). No statistically significant association was found between presence of radiologic changes and symptoms. Age, duration of occupational exposure and its relationship with various clinico-radiologic manifestations was studied. This condition has significant prevalence in porters, beginning at an early age. Diagnosis is based on the clinico-radiologic presentation. CT is the investigation of choice

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

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Allou, Lila; Lambert, Laetitia; Amsallem, Daniel; Bieth, Eric; Edery, Patrick; Destrée, Anne; Rivier, François; Amor, David; Thompson, Elizabeth; Nicholl, Julian; Harbord, Michael; Nemos, Christophe; Saunier, Aline; Moustaïne, Aissa; Vigouroux, Adeline; Jonveaux, Philippe; Philippe, Christophe

2012-01-01

The Forkhead box G1 (FOXG1) gene has been implicated in severe Rett-like phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor critical for forebrain development. Recently, the core FOXG1 syndrome was defined as postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients with a severe Rett-like neurodevelopment disorder associated with de novo FOXG1 point mutations (two cases) or 14q12 deletions (five cases). We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. Dysgenesis of the corpus callosum and dyskinesia are not always present in FOXG1-mutated patients. We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (−4 to−6 SD) and few clinical features suggestive of Rett syndrome. Interestingly enough, three 14q12 deletions that do not include the FOXG1 gene are associated with phenotypes very reminiscent to that of FOXG1-mutation-positive patients. We physically mapped a putative long-range FOXG1-regulatory element in a 0.43 Mb DNA segment encompassing the PRKD1 locus. In fibroblast cells, a cis-acting regulatory sequence located more than 0.6 Mb away from FOXG1 acts as a silencer at the transcriptional level. These data are important for clinicians and for molecular biologists involved in the management of patients with severe encephalopathies compatible with a FOXG1-related phenotype. PMID:22739344

Alergia ao leite de vaca: achados do ultrassom com Doppler colorido em neonatos com hematoquezia

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Matias Epifanio

2013-12-01

Full Text Available OBJETIVO: o ultrassom (US tem sido uma importante ferramenta de diagnóstico para identificar várias causas de hemorragia gastrointestinal. Neonatos com alergia ao leite de vaca (ALV podem apresentar hematoquezia, e a confirmação do diagnóstico pode ser difícil. O objetivo deste estudo é descrever achados com ultrassom em escala de cinza e com Doppler colorido em pacientes com ALV. MÉTODOS: estudamos, retrospectivamente, 13 neonatos com ALV. Todos eles apresentaram hematoquezia severa e dor abdominal e foram submetidos a um estudo com US, com o diagnóstico de colite alérgica. O diagnóstico teve como base os achados clínicos, a recuperação após a dieta de exclusão do neonato ou da mãe, no caso de amamentação exclusiva, e o teste de provocação oral positivo. RESULTADOS: a idade média variou de um a seis meses (média = 3,53. Sete dos 13 neonatos (53,8% passaram novamente por ultrassonografia em escala de cinza e com Doppler colorido após a dieta de exclusão. Dentre eles, 12 dos 13 (92,3% mostraram anormalidades no US e no ultrassom com Doppler colorido (USDC no início. Os achados positivos que sugeriram colite foram paredes intestinais espessas e aumento na vascularização, principalmente no cólon descendente e sigmoide. Os resultados da colonoscopia e histopatológicos foram compatíveis com colite alérgica. Após uma mudança na dieta, os 13 neonatos se recuperaram e seus testes de provocação oral foram positivos. CONCLUSÃO: o US com Doppler pode ser muito útil para diagnosticar a colite secundária, como a ALV, e para excluir várias outras doenças abdominais que podem imitar essa doença.

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

NARCIS (Netherlands)

Hagebeuk, Eveline E. O.; Duran, Marinus; Abeling, Nico G. G. M.; Vyth, Arno; Poll-The, Bwee Tien

2013-01-01

Rett syndrome is a neurodevelopmental disorder characterized by cognitive and locomotor regression and stereotypic hand movements. The disorder is caused by mutations in the X chromosomal MECP2 a gene encoding methyl CpG-binding protein. It has been associated with disturbances of cerebral folate

The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

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Meir Lotan

2006-01-01

Full Text Available Rett syndrome (RS is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life. One of the affected systems is the digestive system, where 74% of persons with RS have abnormal functioning. The affected digestive system causes this population to present an array of problems, such as gastroesophageal reflux (GER, constipation, and malnutrition, leading to failure to thrive (FTT, which resolves in reduced functional ability. Due to the severe effects of the dysfunctional digestive system of individuals with RS, this article will describe the problems common to this population, as well as propose some clinical suggestions for intervention. .

The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

Science.gov (United States)

Lotan, Meir; Zysman, Lilit

2006-01-01

Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life. One of the affected systems is the digestive system, where 74% of persons with RS have abnormal functioning. The affected digestive system causes this population to present an array of problems, such as gastroesophageal reflux (GER), constipation, and malnutrition, leading to failure to thrive (FTT), which resolves in reduced functional ability. Due to the severe effects of the dysfunctional digestive system of individuals with RS, this article will describe the problems common to this population, as well as propose some clinical suggestions for intervention. . PMID:17195872

Genetic syndromes in the family : child characteristics and parenting stress in Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett syndrome

NARCIS (Netherlands)

Wulffaert, Josette

2010-01-01

Aim of the dissertation: To expand the knowledge on the behavioural phenotypes, level of parenting stress and the relationship between child characteristics and parenting stress in five genetic syndromes. The included syndromes are Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome

DEFF Research Database (Denmark)

Stahlhut, Michelle; Hill, Kylie; Bisgaard, Anne-Marie

2017-01-01

measured duration of sedentary time with a mean difference (limit of agreement) of -1.0 (6.3) minutes. The duration of Bouchard activity record downtime accounted for 73% of the variance of sedentary time measured by the activPAL (coefficient 0.762, 95% CI 0.413 to 1.111). These data provide clinicians......This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.4-20.6) years) wore an activPAL accelerometer during video-taped activities and agreement was determined between sedentary time determined by the activ......PAL and observation. For 11 individuals (median [IQR] age 14.5 (11.5-25.6) years), linear regression was used to determine the relationship between sedentary time recorded on the modified Bouchard activity record diary card and measured using the activPAL. In comparison to observation, the activPAL accurately...

Brain perfusion SPECT and EEG findings in Rett syndrome

International Nuclear Information System (INIS)

Lappalainen, R.; Liewendahl, K.; Nikkinen, P.; Sainio, K.; Riikonen, R.S.

1997-01-01

Thirteen patients (mean age 8.4 + 5.3 years) with Rett syndrome (RS) were studied with EEG and 99m Tc-HMPAO SPECT. Eleven patients had background abnormalities and 10 patients paroxysmal activity in EEG. Hypoperfusion of varying severity was detected in 11 patients, 7 patients having multiple lesions. Bifrontal hypoperfusion, observed in 6 patients, was the most distinctive finding. Hypoperfusion was observed also in other cortical regions, except for the occipital lobes. There was no correlation between severity of the background abnormality or presence of paroxysmal activity in EEG and grade of hypoperfusion. There was, however, an association between the severity of hypoperfusion and early manifestation of symptoms in patients with RS. Whether this early-onset group of patients represents a different disease entity or only reflects disease variability the basic pathology being the same, is a possibility that deserves further clarification. (au) 37 refs

Social-emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour.

Science.gov (United States)

Munde, V; Vlaskamp, C; Ter Haar, A

2016-01-01

While the medical profession often terms behaviours in individuals with Rett syndrome (RTT) in the second stage as 'autistic-like', parents disagree with this description. The present study focuses on a comparison of parents' experiences with the social-emotional behaviour of the child with RTT in the second and subsequent stages. In collaboration with the Dutch Rett Syndrome Organization, 51 parents of children with RTT in the Netherlands took part in the present study. Parents completed an online questionnaire to clarify their experiences of the social-emotional behaviour of their children during and after the second stage of RTT. Both quantitative and qualitative analysis techniques have been used. The results of the paired-samples t-test show that parents see significantly less social-emotional behaviour in the children during the second stage of RTT than in the subsequent stages. Parents reported that their children did not seek as much interaction. From the parents' descriptions, it would seem that the children are willing but unable to interact with their environment. Like previous research, our study leads to doubts about the appropriateness of the label 'autistic-like' for the behaviour of individuals in the second stage of RTT. While behaviours of individuals with autism and individuals with RTT may resemble each other, quality and intentions may differ. Still, future studies are needed for further clarification. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Comparação entre os diagnósticos clínicos e os achados de necropsia: análise retrospectiva de 680 pacientes

OpenAIRE

Segura,Marcos Emanuel de Alcântara; Rocha,Erudith Mendes; Lourenço,Alexandre Alves; Veloso,Moema Gonçalves Pinheiro; Moraes,Waldete Cabral

2006-01-01

OBJETIVO: Analisar a concordância entre os diagnósticos clínicos e os achados anatomopatológicos obtidos por meio do exame necroscópico, a fim de determinar a freqüência com que a necropsia revela diagnósticos principais inesperados, que são relevantes para a causa do óbito. MÉTODOS: Foram analisadas retrospectivamente 680 necropsias realizadas no Hospital de Base do Distrito Federal (HBDF), de janeiro de 1997 a dezembro de 2002. Para a comparação entre os achados clínicos e anatomopatológico...

[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

Science.gov (United States)

Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

2012-01-01

Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

Aplastic anemia: clinico haematological features, treatment and outcome analysis

International Nuclear Information System (INIS)

Wali, R.; Fadoo, Z.; Naqvi, M.A.

2011-01-01

To determine the clinico haematological features, treatment and outcome of children diagnosed with aplastic anemia at a single institution. Study Design: Observational study. Place and Duration of Study: The Aga Khan University Hospital, Karachi, from January 1999 till December 2008. Methodology: Medical records of children aged less than 15 years of age diagnosed with aplastic anemia were reviewed. Clinico haematological features, treatment and its response to therapy and outcome were recorded. Results were described in percentages. Results: Ninety patients were diagnosed to have aplastic anemia (AA); 65 were male during the study period. Age ranged from 1 to 15 years. Fever in 65 patients (72.2%), pallor in 53 (58.8%), skin bleeding in 49 (54.4%) and epistaxis in 31(34.4%) were the most common and frequent presenting features. Congenital (Fanconi's) anemia was found in 15 (16.6%) and acquired idiopathic in 75 (83.4%) of patients. Very severe aplastic anemia (VSAA) was seen in 29 (32.2%), 26 (28.9%) had severe AA and 17 (18.9%) had moderate AA. Eight patients (8.9%) underwent haematopoietic stem cell transplantation (HSCT), 12 (13.3%) received immunosuppressive therapy (IST) and 70 patients (77.7%) received other and supportive therapy. Five (62.5%) patients showed complete response to HSCT and 3 (37.5%) failed to engraft. IST showed complete response in 3 (25%), partial response in 5 (41.6%) and no response in 4 (33.3%). Twenty two patients (24.4%) expired either due to infection in 16 (72.7%, fungal in 6, bacterial in 10) and intracranial haemorrhage in 6 (27.3%) cases. Conclusion: Majority of cases with AA were acquired and idiopathic in etiology. VSAA and SAA were frequent. Response to HSCT and IST was sub-optimal. (author)

Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis

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Ellison, K.A.; Fill, C.P. (Baylor College of Medicine, Houston, TX (United States)); Terwililger, J.; Percy, A.K.; Zobhbi, H. (Columbia University, NY (United States)); DeGennaro, L.J.; Ott, J. (University of Massachusetts Medical School, Worcester (United States)); Anvret, M.; Martin-Gallardo, A. (National Institutes of Health, Bethesda, MD (United States))

1992-02-01

Rett syndrome is a neurologic disorder characterized by early normal development followed by regression, acquired deceleration of head growth, autism, ataxia, and sterotypic hand movements. The exclusive occurrence of the syndrome in females and the occurrence of a few familial cases with inheritance through maternal lines suggest that this disorder is most likely secondary to a mutation on the X chromosome. To address this hypothesis and to identify candidate regions for the Rett syndrome gene locus, genotypic analysis was performed in two families with maternally related affected half-sisters by using 63 DNA markers from the X chromosome. Nineteen of the loci studied were chosen for multipoint linkage analysis because they have been previously genetically mapped using a large number of meioses from reference families. Using the exclusion criterion of a lod score less than [minus]2, the authors were able to exclude the region between the Duchenne muscular dystrophy locus and the DXS456 locus. This region extends from Xp21.2 to Xq21-q23. The use of the multipoint linkage analysis approach outlined in this study should allow the exclusion of additional regions of the X chromosome as new markers are analyzed.

Rett Syndrome: From Bed to Bench

Directory of Open Access Journals (Sweden)

Shih-Ming Weng

2011-12-01

Full Text Available Rett syndrome (RTT, a neurodevelopmental condition characterized by delayed-onset loss of spoken language and the development of distinctive hand stereotypies, affects approximately 1 in 10,000 live female births. Clinical diagnosis has been based on symptoms such as loss of acquired purposeful hand skills, autistic behaviors, motor dysfunctions, seizure disorders, and gait abnormalities. RTT is a genetic disease and is caused almost exclusively by mutations in the X-linked gene, MECP2, to produce a phenotype that is thought to be primarily of neurological origin. Clinical reports show RTT patients to have a smaller brain volume, especially in the cerebral hemispheres, and alterations in various neurotransmitter systems, including acetylcholine, dopamine, serotonin, glutamate, substance P, and various trophic factors. Because of its monogenetic characteristic, disruption of Mecp2 is readily recapitulated in mice to produce a prominent RTT-like phenotype and provide an excellent platform for understanding the pathogenesis of RTT. As shown in human studies, Mecp2 mutants also display subtle alterations in neuronal morphology, including smaller cortical neurons with a higher-packing density and reduced dendritic complexity. Neurophysiological studies in Mecp2-mutant mice consistently report alterations in synaptic function, notably, defects in synaptic plasticity. These data suggest that RTT might be regarded as a synaptopathy (disease of the synapse and thus potentially amenable to rational therapeutic intervention.

Clinico-pathological study to evaluate oral lichen planus for the establishment of clinical and histopathological diagnostic criteria.

Science.gov (United States)

Hiremath, Santhosh; Kale, Alka D; Hallikerimath, Seema

2015-01-01

Lichen planus and lichenoid lesions affecting the oral cavity show similar clinico-pathological features creating a diagnostic dilemma. Hence, the aim of the present study was to establish a clinical and histopathological correlation in the diagnosis of oral lichen planus, based on the modified WHO diagnostic criteria of oral lichen planus and oral lichenoid lesions proposed by Van der Meij and Van der Waal in 2003. In the present study, 100 cases of oral lichen planus were clinically and histopathologically analyzed. Out of the 100 cases, 50 were prospective and 50 were retrospective cases. Prospective cases were collected based on the clinical diagnosis of oral lichen planus and oral lichenoid lesion. Retrospective cases were collected based on the histopathological diagnosis of oral lichen planus. Both the clinical and histopathological analyses were performed based on a proposal for a set of modified diagnostic criteria of oral lichen planus and oral lichenoid lesion. A final diagnosis of oral lichen planus was made only after the correlation of the clinical diagnosis with the histopathological diagnosis. The interobserver agreement among three observers for both prospective and retrospective cases in the final diagnosis of oral lichen planus was found to be "good" to "very good" indicating high reproducibility. However, the final diagnoses of true oral lichen planus after clinico-pathological correlation in prospective and retrospective study groups appeared to be 38.0% and 54.0% respectively. The results of the present study revealed mild to moderate clinico-pathological correlation in the final diagnosis of oral lichen planus for the prospective and retrospective study groups respectively.

A qualitative motion analysis study of voluntary hand movement induced by music in patients with Rett syndrome.

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Go, Tohshin; Mitani, Asako

2009-01-01

Patients with Rett syndrome are known to respond well to music irrespective of their physical and verbal disabilities. Therefore, the relationship between auditory rhythm and their behavior was investigated employing a two-dimensional motion analysis system. Ten female patients aged from three to 17 years were included. When music with a simple regular rhythm started, body rocking appeared automatically in a back and forth direction in all four patients who showed the same rocking motion as their stereotyped movement. Through this body rocking, voluntary movement of the hand increased gradually, and finally became sufficient to beat a tambourine. However, the induction of body rocking by music was not observed in the other six patients who did not show stereotyped body rocking in a back and forth direction. When the music stopped suddenly, voluntary movement of the hand disappeared. When the music changed from a simple regular rhythm to a continuous tone without an auditory rhythm, the periodic movement of both the hand and body prolonged. Auditory rhythm shows a close relationship with body movement and facilitates synchronized body movement. This mechanism was demonstrated to be preserved in some patients with Rett syndrome, and stimulation with music could be utilized for their rehabilitation.

Optimization of the standards clinico-neurology and beam diagnostics of an easy brain injury

International Nuclear Information System (INIS)

Vakulenko, I.P.; Semisalov, S.Ya.; Sajko, D.Yu.

2003-01-01

16825 cases of a brain injury (BI) at the persons are investigated is more senior than 14 years. Axial computer topography (ACT) at concussion of a head brain was made 1/3 injureds. The careful analysis clinico-neuralgic symptoms allows to optimize purpose the ACT at easy BI, that not only improves quality of diagnostics, but in the certain degree normalizes beam loading on the injureds

Ricerca clinico-epidemiologica sullo stato di salute del cavo orale nei pazienti tossicodipendenti

OpenAIRE

Bromo, Francesco

2010-01-01

Obiettivo: Lo scopo della ricerca è stato quello di mettere in evidenza la presenza di patologie del cavo orale in soggetti tossicodipendenti Materiali e Metodi: Sono stati reclutati 71 pazienti in terapia di recupero presso la Comunità Incontro di Amelia. I soggetti sono stati sottoposti a visite clinico-anamnestiche adottando una cartella clinica da noi stessi costruita. Risultati: Dei 71 soggetti tossicodipendenti, 42 facevano uso di eroina e 39 assumevano droghe per v...

A qualitative motion analysis study of voluntary hand movement induced by music in patients with Rett syndrome

OpenAIRE

Go, T

2009-01-01

Tohshin Go1, Asako Mitani21Center for Baby Science, Doshisha University, Kizugawa, Kyoto, Japan; 2Independent Music Therapist (Poco A Poco Music Room), Tokyo, JapanAbstract: Patients with Rett syndrome are known to respond well to music irrespective of their physical and verbal disabilities. Therefore, the relationship between auditory rhythm and their behavior was investigated employing a two-dimensional motion analysis system. Ten female patients aged from three to 17 years were included. W...

Pulmonary sporotrichosis: case series and systematic analysis of literature on clinico-radiological patterns and management outcomes.

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Aung, Ar Kar; Teh, Bing Mei; McGrath, Christopher; Thompson, Philip J

2013-07-01

Pulmonary infections by Sporothrix spp. manifest radiologically as cavitary or non-cavitary disease depending on whether the infection is primary pulmonary or multifocal sporotrichosis. Despite current guidelines, the optimal management for pulmonary sporotrichosis remains unclear. In order to clarify this, we present two cases of pulmonary sporotrichosis, as well as the results of a comprehensive literature review of treatment outcomes based on clinico-radiological presentation patterns of the disease. A literature search of all case reports in English language over the last 50 years (1960-2010) was conducted. Data on patient characteristics, risk factors, clinico-radiological patterns, treatment modalities and outcomes were collected and analyzed. A total of 86 cases were identified, i.e., 64 (74.4%) primary pulmonary and 22 (25.6%) multifocal sporotrichosis. Radiologically, primary pulmonary disease was commonly characterized by cavity formation which was lacking in multifocal infections (P = 0.0001). Immunosuppressant use was more common in multifocal sporotrichosis (P = 0.0001), while hemoptysis was more common in primary pulmonary form (P = 0.01). No other differences in patient characteristics or risk factors were noted. Extra-pulmonary multifocal sporotrichosis most commonly involved skin (81.8%) and joints (45.4%). For patients with cavitary primary pulmonary sporotrichosis, outcomes from medical therapy alone were inferior to surgical intervention (P = 0.02). However, for both primary pulmonary and multifocal sporotrichosis with non-cavitary disease, medical therapy alone provided good outcomes. Only 12 (16.7%) cases were treated with itraconazole. Treatment of pulmonary sporotrichosis should be guided by the clinico-radiological patterns of presentation. Medical therapy alone is likely sufficient for non-cavitary disease while early surgery should be considered for cavitary primary pulmonary sporotrichosis. The experience in treating cavitary disease

Thyroiditis: a Clinico-cytomorphological Study with a Reference to the Ethnic Groups of Northeast Regions of India.

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Kalita, Abhijit; Baruah, Ronica

2015-12-01

Definite clinico-cytological criterion is outlined for thyroid lesions. Fine needle aspiration cytology (FNAC) makes it easier to segregate cases of thyroiditis (Chronic lymphocytic thyroiditis/Hashimoto's thyroiditis-CLT/HT, and subacute thyroiditis-SAT) from other benign and malignant lesions of thyroid. The study was done for a period of 5½ years at a diagnostic centre in Guwahati. Patients underwent FNAC and smears were studied for cytomorphology. A correlation with clinical features and thyroid function, including antithyroid antibody estimation, was done, wherever possible. 792 thyroid lesions were encountered during the study, of which 213 (26.89 %) were cases of thyroiditis (70.43 % CLT/HT, 24.9 % SAT and 3.76 % having overlapping features of CLT/HT and SAT); 2 cases (0.9 %) of CLT showed suspicion of Non-Hodgkin's Lymphoma (NHL), which was confirmed on histopathology. 24 cases (11.26 %) belonged to different ethnic tribal groups of Northeast India. CLT/HT presented predominantly with diffuse thyroid enlargement, but 12 cases (8 % of CLT/HT cases) had nodular enlargement. Patients presented with predominantly hypothyroidism; however occasional hyperthyroid cases were also seen. SAT showed signs of inflammation and presented with hyperthyroidism. Overlap cases of CLT/HT and SAT showed combined clinico-cytomorphological features of both lesions. 37.5 % cases with overlapping features belonged to tribal communities. A rise in incidence of thyroiditis, particularly CLT/HT, was seen. Overlap features of CLT/HT and SAT was noticed in significant percentage. No bias was noticed amongst any specific tribal community. FNAC, coupled with clinico-serological study, helps to diagnose thyroiditis at early stage.

Subclinical Inflammatory Status in Rett Syndrome

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Alessio Cortelazzo

2014-01-01

Full Text Available Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR in stage II (i.e., “pseudo-autistic” RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions. Elevated erythrocyte sedimentation rate values (median 33.0 mm/h versus 8.0 mm/h, P<0.0001 were detectable in RTT, whereas C-reactive protein levels were unchanged (P=0.63. The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive (n=6 spots or negative (n=9 spots, and to a lesser extent as proteins involved in the immune system (n=2 spots, with some proteins having overlapping functions on metabolism (n=7 spots. The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the “pseudo-autistic” phase of RTT, which is related to the severity carried by the MECP2 gene mutation.

Management of epilepsy in patients with Rett syndrome: perspectives and considerations.

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Krajnc, Natalija

2015-01-01

Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of acquired motor skills, loss of purposeful activity, hand stereotypies, loss of acquired spoken language, and seizures. Epilepsy affects the majority of patients in a specific clinical stage of the disease and is drug resistant in approximately one-third of cases. The association of epilepsy and even drug-resistant epilepsy has been reported in certain genotypes of the methyl-CpG-binding protein 2 mutation, which is present in a majority of patients with classical RTT. The evolution of electroencephalographic abnormalities accompanying the clinical development of the syndrome is well described, but much less is known about the seizure semiology and the effectiveness of specific antiepileptic drugs. The aim of this review is to present the clinical and electrophysiological aspects of epilepsy in RTT and the current treatment approach.

Oral findings in Rett syndrome: a systematic review of the dental literature.

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Fuertes-González, María-Cristina; Silvestre, Francisco-Javier; Almerich-Silla, José-Manuel

2011-01-01

Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS published in the indexed literature (Medline)--the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral/digital-manual habits. In any case, bruxism is the oral habit most frequently associated with RS--the treatment of which remains the subject of controversy.

Rett Syndrome: A Focus on Gut Microbiota

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Elisa Borghi

2017-02-01

Full Text Available Rett syndrome (RTT is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, and short-chain fatty acid (SCFA production. We enrolled eight RTT patients and 10 age- and sex-matched healthy women, all without dietary restrictions. The microbiota was characterized by 16S rRNA gene sequencing, and SCFAs concentration was determined by gas chromatographic analysis. The RTT microbiota showed a lower α diversity, an enrichment in Bacteroidaceae, Clostridium spp., and Sutterella spp., and a slight depletion in Ruminococcaceae. Fecal SCFA concentrations were similar, but RTT samples showed slightly higher concentrations of butyrate and propionate, and significant higher levels in branched-chain fatty acids. Daily caloric intake was similar in the two groups, but macronutrient analysis showed a higher protein content in RTT diets. Microbial function prediction suggested in RTT subjects an increased number of microbial genes encoding for propionate and butyrate, and amino acid metabolism. A full understanding of these critical features could offer new, specific strategies for managing RTT-associated symptoms, such as dietary intervention or pre/probiotic supplementation.

Rett syndrome: a neurological disorder with metabolic components

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Kyle, Stephanie M.

2018-01-01

Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system. However, the variety of phenotypes identified in Mecp2 mutant mouse models and RTT patients implicate important roles for MeCP2 in peripheral systems. Here, we review the history of RTT, highlighting breakthroughs in the field that have led us to present day. We explore the current evidence supporting metabolic dysfunction as a component of RTT, presenting recent studies that have revealed perturbed lipid metabolism in the brain and peripheral tissues of mouse models and patients. Such findings may have an impact on the quality of life of RTT patients as both dietary and drug intervention can alter lipid metabolism. Ultimately, we conclude that a thorough knowledge of MeCP2's varied functional targets in the brain and body will be required to treat this complex syndrome. PMID:29445033

Artrodese de coluna: avaliação da satisfação dos cuidadores de pacientes com síndrome de Rett Artrodesis de la columna: evaluación de la satisfacción de los cuidadores de pacientes con síndrome de Rett Arthrodesis spine: satisfaction evaluation of the caregivers of patients with Rett syndrome

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Cleverson Tadeu Sidoli

2010-12-01

Full Text Available OBJETIVO: avaliar o nível de satisfação dos cuidadores de pacientes com síndrome de Rett. MÉTODOS: foi realizado um estudo retrospectivo por meio dos prontuários de dez pacientes com Síndrome de Rett, nove femininos e um masculino. Foram obtidos os dados radiográficos e foi elaborado um questionário de 31 perguntas, respondidas pelos familiares dos pacientes. RESULTADOS: a redução média no ângulo pré-operatório e a medida no pós-imediato foi de 72,4%. Complicação pós-operatória ocorreu em apenas um caso, e 87,5% dos cuidadores afirmaram que houve melhora expressiva com relação ao efeito da cirurgia sobre os cuidados pessoais, na função e locomoção; o tempo de permanência na cadeira de rodas aumentou. Para 66,7% dos cuidadores, a frequência de internamentos por problemas médicos e a frequência de pneumonia diminuíram com a cirurgia. Também fizeram uma avaliação positiva sobre a estética da deformidade da coluna. A grande maioria dos cuidadores (85,7% submeteria novamente seus filhos à cirurgia e recomendariam para outra criança com o mesmo problema. CONCLUSÃO: houve redução significativa na média do ângulo de Cobb entre o pré e pós-operatório e melhoria em todos os aspectos do paciente. Os cuidadores manifestaram que submeteriam seus filhos ao procedimento cirúrgico novamente.OBJETIVO: evaluar el nivel de satisfacción de los cuidadores de pacientes con síndrome de Rett. MÉTODOS: fue realizado un estudio retrospectivo por medio de las historias clínicas de 10 pacientes con síndrome de Rett, nueve mujeres y un hombre. Fueron obtenidos datos radiográficos y se elaboró un cuestionario de 31 preguntas a los familiares de los pacientes. RESULTADOS: la reducción promedio en el ángulo preoperatorio y el promedio en el postoperatorio fue del 72,4%. La complicación postoperatoria ocurrió en solo un caso y el 87,5% de los cuidadores afirmaron que hubo mejoría expresiva con relación al efecto de la

Vitamin D Deficiency is Prevalent in Females with Rett Syndrome

Science.gov (United States)

Motil, Kathleen J.; Barrish, Judy O.; Lane, Jane; Geerts, Suzanne P.; Annese, Fran; McNair, Lauren; Percy, Alan K.; Skinner, Steven A; Neul, Jeffrey L.; Glaze, Daniel G.

2013-01-01

Objectives To determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D [25(OH)D] levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in females with Rett syndrome (RTT). Study design Retrospective review of the medical records of 284 females with RTT to determine serum 25(OH)D and parathyroid hormone levels, nutritional status, dietary sources of vitamin D, exposure to anticonvulsants, degree of mobility, and MECP2 status. Results Twenty percent of females who were tested (n=157) had 25(OH)D levels Anticonvulsants were used by 57% and 39% ambulated independently. Median 25(OH)D levels were lower in individuals who did not receive multivitamin supplements (panticonvulsants, degree of mobility, and MECP2 status did not influence 25(OH)D levels. Conclusion Vitamin D deficiency is prevalent in females with RTT. The use of multivitamin supplements or commercial formulas is associated with improved vitamin D levels. Attention to vitamin D may enhance bone mineral deposition and reduce the frequency of bone fractures in these individuals. PMID:21637127

Incidental benign parotid lesions on FDG-PET: prevalence and clinico-pathologic findings

International Nuclear Information System (INIS)

Lim, Il Han; Lee, Won Woo; Chung, Jin Haeng; Park, So Yeon; Kim, Sang Hee; Kim, Yu Kyeong; Kim, Sang Eun

2007-01-01

Incidental parotid lesions on F-18 FDG-PET can mimic distant metastasis of underlying malignancy. The prevalence and the clinico-pathologic findings of PET positive parotid lesions have not been known. We investigated how often incidental parotid lesions are found on clinical FDG-PET studies and what the clinico-pathologic characteristics of those parotid lesions are in the present study. We retrospectively reviewed 3,344 cases of FDG-PET which had been obtained in our hospital from May 2003 to Dec 2006. The indications of FDG-PET were: evaluation of known/suspected cancer (n = 3,212) or screening of cancer in healthy subjects (n = 132). Incidental parotid lesion on FDG-PET was defined as an un-expected FDG uptake in one of parotid glands which was not primary target lesion of current FDG/PET. FDG uptake was represented by maximum standardized uptake value (maxSUV). Final diagnosis was made by pathologic analysis or clinical follow-up assessment. Fifteen (0.45% = 15/3,344) incidental parotid lesions were found and they were all benign lesions. The maxSUV ranged from 1.7 to 8.6 (mean ± s.d. = 3.7 ± 1.9). Final diagnoses of the incidental parotid lesions were; Warthin's tumor (n = 2), pleomorphic adenoma (n = 1), other un-specified benign lesion (n 1), and benign lesions under bases of imaging studies (n = 3) and of clinical follow-up (n = 8). All of incidentally found parotid lesions in clinical FDG-PET studies were confirmed as benign lesions with prevalence of 0.45%. Close follow up using PET or CT might be a reasonable approach for determining the nature of incidentally found parotid lesions

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

NARCIS (Netherlands)

Schonewolf-Greulich, B.; Tejada, M.I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brondum-Nielsen, K.; Pfundt, R.P.; Ravn, K.; Maortua, H.; Gener, B.; Martinez-Bouzas, C.; Piton, A.; Rouleau, G.; Clayton-Smith, J.; Kleefstra, T.; Bisgaard, A.M.; Tumer, Z.

2016-01-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair

A Clinico-epidemiologic Profile of Herpeszoster in Norht India

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S D Chaudhary

1987-01-01

Full Text Available A clinico-epidemiological study of 230 cases of herpes zoster revealed an overallincidence of 0.6 percent. Out of 230 patients 160 were males and 70 females (male and female ratio being 2.2:1. The maximum incidence was noted in the second and third decades. A higher incidence was observed in the months of March, April, May and then in August, September and October. A confirmative history of chicken poxin the past was available in 34 (14.7% patients only. There was no appreciable difference between right and left side involvement, except for the cranial segments, where the right side was predominantly involved. Thoracic segments were most commonly (55.2% involved followed by cervical (19.5%, lumbo-sacral (13.9% , and cranial (11.3% segments. Prodromal symptoms were recorded in 20% patients. Among the cranial nerves, ophthalmic branch of trigeminal nerve was most commonly (57.7% affected. Post herpetic neuralgia was noticed in 14.3% patients.

Correlação diagnóstica anatomoclínica. Aferição retrospectiva do diagnóstico clínico em necrópsias Correlation between anatomo-clinical diagnosis and retrospective assessment of clinical diagnosis in post mortms

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Marcos Célio de Almeida

1989-08-01

Full Text Available Analisaram-se retrospectivamente 200 necrópsias, correlacionando-se os diagnósticos clínicos e anatomopatológicos. Foram consideradas 20 entidades nosológicas para confronto. Os diagnósticos não formulados em vida, embora observados na necrópsia (falso negativo, e que apresentaram os maiores percentuais em relação aos respectivos totais de achados necroscópicos, foram: pielonefrite aguda (100%, embolia pulmonar (87,50%, aneurisma dissecante da aorta (66,66% e broncopneumonia (58,16%. Os diagnósticos formulados em vida que não tiveram confirmação pela necrópsia (falso positivo, e que apresentaram os maiores percentuais em relação aos respectivos totais dos diagnósticos clínicos, foram: tuberculose (69,50%, paracoccidioidomicose (57,14%, septicemia (53,13% e doença de Chagas (44,44%. Houve concordância diagnóstica em 97 (48,50% dos 200 casos. Em 19 (9,50% deles o desacordo diagnóstico, se antes verificado, poderia ter implicado alterações do prognóstico. Enfatiza-se a importância da necrópsia para uma adequada correlação anatomoclínica e discute-se os achados em relação a estudos prévios.The post mortem findings in 200 autopsies were compared with the clinical diagnoses. Twenty diseases were analysed with respect to clinico-pathological correlation. In relation to the respective totals the diseases most frequently missed clinically were (false negative pyelonephrites (100%, pulmonary embolus (87.50% and bronchopneumonia (58.16%. In relation to the respective totals the clinical diagnoses less frequently confirmed (false positive were tuberculosis (69.56%, paracoccidioidomycosis (57.14%, sepsis (53.13% and Chagas'disease (44.44%. There was clinico-pathological agreement in 97 autopsies (48.50%. In 19 cases (9.50% if the diagnostic error had been detected during life this probably would have changes the prognosis. The findings are discussed in the light of previous studies. The importance of routine post

The quality of life in girls with Rett syndrome

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Lucia Parisi

2016-05-01

Full Text Available Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child’s development and the entire family. Parents’ answers demonstrated that their child’s illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc IgM Antibody Fraction

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Anna Maria Papini

2014-01-01

Full Text Available Rett syndrome (RTT, a neurodevelopmental disorder affecting exclusively (99% female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2 and, more rarely, cyclin-dependent kinase-like 5 (CDKL5 and forkhead box protein G1 (FOXG1. In this study, we aimed to evaluate the function of the immune system by measuring serum immunoglobulins (IgG and IgM in RTT patients (n=53 and, by comparison, in age-matched children affected by non-RTT pervasive developmental disorders (non-RTT PDD (n=82 and healthy age-matched controls (n=29. To determine immunoglobulins we used both a conventional agglutination assay and a novel ELISA based on antibody recognition by a surrogate antigen probe, CSF114(Glc, a synthetic N-glucosylated peptide. Both assays provided evidence for an increase in IgM titer, but not in IgG, in RTT patients relative to both healthy controls and non-RTT PDD patients. The significant difference in IgM titers between RTT patients and healthy subjects in the CSF114(Glc assay (P=0.001 suggests that this procedure specifically detects a fraction of IgM antibodies likely to be relevant for the RTT disease. These findings offer a new insight into the mechanism underlying the Rett disease as they unveil the possible involvement of the immune system in this pathology.

Hormônio folículo estimulante como preditor do achado de espermatozóides móveis na biópsia testicular de casos de azoospermia

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Souza Carlos Augusto Bastos de

2003-01-01

Full Text Available OBJETIVO: Determinar fatores preditivos do achado de espermatozóides móveis em casos de azoospermia. MÉTODOS: Sessenta pacientes com diagnóstico de azoospermia tiveram avaliado seu volume testicular e dosagens séricas de hormônio folículo estimulante (FSH, hormônio luteinizante (LH, prolactina e testosterona. Os pacientes foram submetidos à biópsia testicular bilateral com anestesia local. As amostras obtidas foram submetidas à avaliação no laboratório de biologia de reprodução, sendo classificadas em: ausência de espermatozóides, presença de espermatozóides móveis e imóveis, e à avaliação histológica. Foram comparados: idade, valores hormonais, volume testicular e histologia com o achado de espermatozóides móveis. Foi considerado significativo um P < 0,05. RESULTADOS: Quarenta e cinco pacientes possuíam azoospermia não-obstrutiva. Foi encontrada uma diferença significativa entre os grupos com achado de espermatozóides móveis e o grupo com ausência de espermatozóides quanto aos valores de FSH (P=0,037 ANOVA one-way. Foi construída uma curva ROC que determinou valores abaixo de 16,05 UI/L (sensibilidade de 76,2%, especificidade de 67,7% como preditivos do achado de espermatozóides móveis. Não foram encontradas outras diferenças estatísticas. CONCLUSÕES: O FSH possui boa acurácia na determinação da presença de espermatozóides móveis na biópsia testicular de pacientes azoospérmicos. O exame físico, os valores de testosterona, LH e prolactina não podem ser utilizados na predição do sucesso da biópsia testicular para fins de reprodução assistida.

Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome.

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Vitorino, Marta; Cunha, Nídia; Conceição, Natércia; Cancela, M Leonor

2018-05-11

Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease. Zebrafish has been used successfully as model organism for many human genetic diseases; however, no information is available concerning the spatial and temporal expression of cdkl5 orthologous in this organism. In the present study, we identified the developmental expression patterns of cdkl5 in zebrafish by quantitative PCR and whole-mount in situ hybridization. cdkl5 is expressed maternally at low levels during the first 24 h of development. After that the expression of the gene increases significantly and it starts to be expressed mainly in the nervous system and in several brain structures, such as telencephalon, mesencephalon and diencephalon. The expression patterns of cdkl5 in zebrafish is in accordance with the tissues known to be affected in humans and associated to symptoms and deficits observed in Rett syndrome patients thus providing the first evidence that zebrafish could be an alternative model to study the molecular pathways of this disease as well as to test possible therapeutic approaches capable of rescuing the phenotype.

A clinico-epidemiological study of herpes zoster.

Science.gov (United States)

Aggarwal, S K; Radhakrishnan, S

2016-04-01

Herpes zoster is a common viral infection of skin caused by reactivation of varicella zoster virus infection from the spinal ganglia. The clinico-epidemiological patterns of this disease in an Indian setting required to be studied. A cross sectional study was conducted on all consecutive cases of herpes zoster reporting to the Dermatology Outpatient Department at a Tertiary Care Hospital in Bangalore during a period of one year from 01 Jun 2013 to 31 May 2014. Detailed history, examination, HIV screening and Tzanck smear were carried out in all cases. 84 cases of herpes zoster were seen with a mean age of 30 years. Majority (39%) of cases were seen in the 21-30 year age group. Thoracic segments were involved in 65.4%, cervical in 11.9%, cranial in 11.5%, lumbar in 8.3% and sacral segments in 3.5%. 63% of cases had zoster associated pain. One case had motor involvement.3.57% of the patients were HIV positive. This study shows a lower age incidence of herpes zoster HIV positivity and zoster associated pain as compared to other studies. The pattern of segmental involvement in herpes zoster seen in this study was similar to other studies.

Clinico-pathological studies of CSF dissemination of glioblastoma and medulloblastoma

International Nuclear Information System (INIS)

Kato, Kyozo; Yoshida, Jun; Kageyama, Naoki

1986-01-01

Clinico-pathological findings of CSF dissemination which was diagnosed on CT scan, were studied on 13 cases of glioblastoma and 9 cases of medulloblastoma. The type of CSF dissemination and the prognosis of patients were both different between glioblastoma and medulloblastoma. In the former, the dissemination was predominantly in ventricular walls and in the latter, in basal cisterns. The mean survival time after the diagnosis of dissemination is 6 months of glioblastoma as compared with 13 months of medulloblastoma. The Pathological studies show that subependymal and/or subpial infiltration of tumor cells, and thickness of arachnoid membrane by marked mesodermal reaction were demonstrated in cases of glioblastoma. On the contrary, tumor cells of medulloblastoma grow markedly in the subarachnoid space and/or on the ependymal layers. From these pathological findings of CSF dissemination, it will be resulted that the prognosis of glioblastoma is much more poor that of medulloblastoma. (author)

Clinico-Pathological Association of Delineated miRNAs in Uveal Melanoma with Monosomy 3/Disomy 3 Chromosomal Aberrations.

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Nalini Venkatesan

Full Text Available To correlate the differentially expressed miRNAs with clinico-pathological features in uveal melanoma (UM tumors harbouring chromosomal 3 aberrations among South Asian Indian cohort.Based on chromosomal 3 aberration, UM (n = 86 were grouped into monosomy 3 (M3; n = 51 and disomy 3 (D3; n = 35 by chromogenic in-situ hybridisation (CISH. The clinico-pathological features were recorded. miRNA profiling was performed in formalin fixed paraffin embedded (FFPE UM samples (n = 6 using Agilent, Human miRNA microarray, 8x15KV3 arrays. The association between miRNAs and clinico-pathological features were studied using univariate and multivariate analysis. miRNA-gene targets were predicted using Target-scan and MiRanda database. Significantly dys-regulated miRNAs were validated in FFPE UM (n = 86 and mRNAs were validated in frozen UM (n = 10 by qRT-PCR. Metastasis free-survival and miRNA expressions were analysed by Kaplen-Meier analysis in UM tissues (n = 52.Unsupervised analysis revealed 585 differentially expressed miRNAs while supervised analysis demonstrated 82 miRNAs (FDR; Q = 0.0. Differential expression of 8 miRNAs: miR-214, miR-149*, miR-143, miR-146b, miR-199a, let7b, miR-1238 and miR-134 were studied. Gene target prediction revealed SMAD4, WISP1, HIPK1, HDAC8 and C-KIT as the post-transcriptional regulators of miR-146b, miR-199a, miR-1238 and miR-134. Five miRNAs (miR-214, miR146b, miR-143, miR-199a and miR-134 were found to be differentially expressed in M3/ D3 UM tumors. In UM patients with liver metastasis, miR-149* and miR-134 expressions were strongly correlated.UM can be stratified using miRNAs from FFPE sections. miRNAs predicting liver metastasis and survival have been identified. Mechanistic linkage of de-regulated miRNA/mRNA expressions provide new insights on their role in UM progression and aggressiveness.

Pericoronal radiolucencies with significant pathology: Clinico-histopathologic evaluation

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Sanjeev Anand

2015-04-01

Full Text Available Background: The purpose of the study was to correlate the provisional diagnosis of pericoronal radiolucencies associated with impacted, embedded, or unerupted teeth with the histopathologic diagnosis, and also to emphasize the importance of early detection for better diagnosis and management. Methods: This is a retrospective study involving 18 cases of pericoronal radiolucencies associated with unerupted, embedded, or impacted teeth whose data during 1-year period were retrieved, and were reviewed for clinical, radiological, and histopathologic data. Also, comparison and correlation of clinico-histopathologic diagnosis was made. Results: Of the 18 cases, 11 were provisionally diagnosed as dentigerous cyst and the remaining were diagnosed as ameloblastoma, odontogenic keratocyst, adenomatoid odontogenic tumor, and calcifying epithelial odontogenic cyst. Histopathologic diagnosis of the 18 cases showed varied results, with only 10% correlating with the provisional diagnosis. Conclusion: Although many pathological processes may present radiographically as pericoronal radiolucencies associated with unerupted teeth, the most common is the dentigerous cyst. Hence, it is crucial for the clinician to fully investigate all teeth that fail to erupt at the expected time, and promptly initiate appropriate assessment and management of suspected cystic lesions.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

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Maortua, Hiart; Martínez-Bouzas, Cristina; Calvo, María-Teresa; Domingo, Maria-Rosario; Ramos, Feliciano; García-Ribes, Ainhoa; Martínez, María-Jesús; López-Aríztegui, María-Asunción; Puente, Nerea; Rubio, Izaskun; Tejada, María-Isabel

2012-08-06

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. We performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the CDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA). Six previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life. This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

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Maortua Hiart

2012-08-01

Full Text Available Abstract Background Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5 located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. Methods We performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2 mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the CDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA. Results Six previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36 and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life. Conclusions This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.

Ulcerative Granular Cell Tumor: A Clinico pathological and Immunohistochemical Study

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El-Khalawan, M.; Mosbeh, A.; Abd-Al Salam, F.; Abou-Bakr, A.

2011-01-01

Granular cell tumor (GCT) is uncommonly presented with cutaneous ulcer. We examined the clinico pathological and immunohistochemical features of this ulcerative form in fourteen cases that may raise the awareness of this variant. The study included 11 males and 3 females with a mean age 31.5± 7.42 years. All cases were presented with large solitary ulcer with indurated base, elevated border, skin colored margin, and necrotic floor. Twelve lesions were located on the extremities and two lesions on the genital region. Histologically, the lesions showed dermal infiltrate composed of large polygonal cells with granular cytoplasm and characteristic infiltration of the dermal muscles in all cases. Immunostaining showed positive reaction for S100 (14/14), NSE (14/14), CD68 (5/14), and Vimentin (7/14) while HMB45, CK, EMA, and Desmin were negative. We hope that this paper increases the awareness of ulcerative GCT and consider it in the differential diagnosis of ulcerative lesions

Clinico-radiological study of fibro-osseous lesions of the jaw

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Nah, Kyung Sik; Park, Tae Won

1982-01-01

Since the fibro-osseous lesion is not a specific diagnostic term, the author studied clinically and radiologically 44 cases which had been diagnosed as fibro-osseous lesion in SNUDH (1972-1981.12). The obtained results were as follows. 1. Clinico-radiologically, the cases of fibro-osseous lesions were divided into two groups. 2. The first group was fibrous dysplasia(21 cases). 3. The second group was tumors of periodontal ligament origin, including ossifying fibroma, cementifying fibroma and cemento-ossifying fibroma (23 cases). 4. In most cases the chief complaint was painless swelling of the jaw and the mean age of the fibrous dysplasia (24.6 yrs) was a little younger than that of the periodontal ligament origin lesions (29.2 yrs). 5. In fibrous dysplasia, maxilla was often involved and showed ground-glass of smoke pattern radiologically. 6. The tumors of periodontal ligament origin occurred more in female, mandible and radiologically showed varying amounts of radiopaque foci in well-circumscribed osteolytic lesion.

Clinico-Histopathological Spectrum of Infectious Granulomatous Dermatoses in Western India- A Representative Study from Mumbai.

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Grover, Sumit; Agale, Shubhangi Vinayak; D'Costa, Grace F; Valand, Arvind G; Gupta, Vikram Kumar

2016-04-01

Infectious Granulomatous Dermatoses (IGDS) have various aetiological factors with a considerable overlap in the histopathological and clinical features, thus posing a diagnostic dilemma for dermatologists and pathologists. We aimed at determining the histopathological profile of IGDS correlating it with clinical features with an attempt to find the aetiology. In a cross-sectional study conducted in a tertiary referral center of Mumbai over two years, out of 1872 skin biopsies received, 239 histopathologically diagnosed cases of IGDS were studied for histopathological features of granuloma. A clinico-histopathological correlation was attempted. Chi-square test was used for comparison of proportions of different groups. Leprosy (211 cases) and tuberculosis (28 cases) were the commonest histopathologically diagnosed IGDS. Leprosy spectrum included BT (30.33% cases), followed by TT (21.32%), BL and LL and 21.79% cases of lepra reactions. Skin TB biopsies on histopathology showed lupus vulgaris (53.85% cases), scrofuloderma (15.38%), TBVC and papulonecrotic tuberculid (11.54% each). In leprosy maximum clinico-pathological agreement was seen at tuberculoid pole (TT 72.7% and BT 56.6%). Among tuberculosis cases, scrofuloderma (100%) and lupus vulgaris (53.8%) showed maximum agreement. Leprosy and skin TB are the commonest IGDS in Mumbai region though difficult to diagnose and subcategorize with certainty during initial stages. Histopathology plays the important role to elucidate the dilemma. This being a single center study, more such studies with a larger sample size are recommended to get more elaborate data and regional prevalence of these IGDS for a better overall approach to prevention, treatment and control.

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

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Hadzsiev, Kinga; Polgar, Noemi; Bene, Judit; Komlosi, Katalin; Karteszi, Judit; Hollody, Katalin; Kosztolanyi, Gyorgy; Renieri, Alessandra; Melegh, Bela

2011-03-01

Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%). Of the 22 mutations, we identified 7 (31.8%) frameshift-causing deletions, 4 (18.2%) nonsense, 10 (45.5%) missense mutations and one insertion (4.5%). The most frequent pathologic changes were: p.Thr158Met (14.2%) and p.Arg133Cys (11.9%) missense, and p.Arg255Stop (9.5%) and p.Arg294Stop (9.5%) nonsense mutations. We also detected the c.925C >T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. Patients without detectable MECP2 defects were screened for mutations of cyclin-dependent kinase-like 5 (CDKL5) gene, responsible for the early-onset variant of RTT. We discovered two novel mutations: c.607G >T resulting in a termination codon at aa203, disrupting the catalytic domain, and c.1708G >T leading to a stop at aa570 of the C terminus. Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT. No FOXG1 mutation was detected in any of the remaining patients. A total of 110 (72.5%) patients remained without molecular genetic diagnosis that necessitates further search for novel gene mutations in this phenotype. Our results also suggest the need of screening for CDKL5 mutations in patients with Rett phenotype tested negative for MECP2 mutations.

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

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Yuge, Kotaro; Iwama, Kazuhiro; Yonee, Chihiro; Matsufuji, Mayumi; Sano, Nozomi; Saikusa, Tomoko; Yae, Yukako; Yamashita, Yushiro; Mizuguchi, Takeshi; Matsumoto, Naomichi; Matsuishi, Toyojiro

2018-06-01

Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Reflections on the Constraints and Opportunities in Therapy in Rett Syndrome

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Alison M. Kerr

2006-01-01

Full Text Available More than 20 years of clinical and research experience with affected people in the British Isles has provided insight into particular challenges for therapists, educators, or parents wishing to facilitate learning and to support the development of skills in people with Rett syndrome. This paper considers the challenges in two groups: those due to constraints imposed by the disabilities associated with the disorder and those stemming from the opportunities, often masked by the disorder, allowing the development of skills that depend on less-affected areas of the brain. Because the disorder interferes with the synaptic links between neurones, the functions of the brain that are most dependent on complex neural networks are the most profoundly affected. These functions include speech, memory, learning, generation of ideas, and the planning of fine movements, especially those of the hands. In contrast, spontaneous emotional and hormonal responses appear relatively intact. Whereas failure to appreciate the physical limitations of the disease leads to frustration for therapist and client alike, a clear understanding of the better-preserved areas of competence offers avenues for real progress in learning, the building of satisfying relationships, and achievement of a quality of life.

Doenças cerebrovasculares em pacientes entre 15 e 40 anos: achados neuropatológicos em 47 casos

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Maggio, Everton M.; Montemór-Netto, Mário R; Gasparetto, Emerson L.; Reis-Filho, Jorge S.; Tironi, Fábio A.; Torres, Luiz F. Bleggi

2001-01-01

As doenças cerebrovasculares em pacientes entre 15 e 40 anos são pouco estudadas na literatura latino americana, principalmente no que tange aos achados neuropatológicos. Analisamos 47 encéfalos provenientes de necrópsias completas realizadas no período de 1987 a 1997 selecionados com base na faixa etária e alteração neuropatológica básica envolvendo fenômenos vasculares. Destes 47 casos analisados, 26 eram (55,3%) do sexo feminino. Quanto à distribuição etária, 12,8% (n=06) acometeram pacien...

Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

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Belousova, Elena; Sukhorukov, Vladimir; Dorofeeva, Marina; Shagam, Lev; Vlodavetz, Dmitrii V.

2017-01-01

Introduction. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS. Case study. The female child was born at term by normal de...

Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs.

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Leoncini, Silvia; De Felice, Claudio; Signorini, Cinzia; Zollo, Gloria; Cortelazzo, Alessio; Durand, Thierry; Galano, Jean-Marie; Guerranti, Roberto; Rossi, Marcello; Ciccoli, Lucia; Hayek, Joussef

2015-01-01

An involvement of the immune system has been suggested in Rett syndrome (RTT), a devastating neurodevelopmental disorder related to oxidative stress, and caused by a mutation in the methyl-CpG binding protein 2 gene (MECP2) or, more rarely, cyclin-dependent kinase-like 5 (CDKL5). To date, it is unclear whether both mutations may have an impact on the circulating cytokine patterns. In the present study, cytokines involved in the Th1-, Th2-, and T regulatory (T-reg) response, as well as chemokines, were investigated in MECP2- (MECP2-RTT) (n = 16) and CDKL5-Rett syndrome (CDKL5-RTT) (n = 8), before and after ω-3 polyunsaturated fatty acids (PUFAs) supplementation. A major cytokine dysregulation was evidenced in untreated RTT patients. In MECP2-RTT, a Th2-shifted balance was evidenced, whereas in CDKL5-RTT both Th1- and Th2-related cytokines (except for IL-4) were upregulated. In MECP2-RTT, decreased levels of IL-22 were observed, whereas increased IL-22 and T-reg cytokine levels were evidenced in CDKL5-RTT. Chemokines were unchanged. The cytokine dysregulation was proportional to clinical severity, inflammatory status, and redox imbalance. Omega-3 PUFAs partially counterbalanced cytokine changes, as well as aberrant redox homeostasis and the inflammatory status. RTT is associated with a subclinical immune dysregulation as the likely consequence of a defective inflammation regulatory signaling system.

Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs

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Silvia Leoncini

2015-01-01

Full Text Available An involvement of the immune system has been suggested in Rett syndrome (RTT, a devastating neurodevelopmental disorder related to oxidative stress, and caused by a mutation in the methyl-CpG binding protein 2 gene (MECP2 or, more rarely, cyclin-dependent kinase-like 5 (CDKL5. To date, it is unclear whether both mutations may have an impact on the circulating cytokine patterns. In the present study, cytokines involved in the Th1-, Th2-, and T regulatory (T-reg response, as well as chemokines, were investigated in MECP2- (MECP2-RTT (n=16 and CDKL5-Rett syndrome (CDKL5-RTT (n=8, before and after ω-3 polyunsaturated fatty acids (PUFAs supplementation. A major cytokine dysregulation was evidenced in untreated RTT patients. In MECP2-RTT, a Th2-shifted balance was evidenced, whereas in CDKL5-RTT both Th1- and Th2-related cytokines (except for IL-4 were upregulated. In MECP2-RTT, decreased levels of IL-22 were observed, whereas increased IL-22 and T-reg cytokine levels were evidenced in CDKL5-RTT. Chemokines were unchanged. The cytokine dysregulation was proportional to clinical severity, inflammatory status, and redox imbalance. Omega-3 PUFAs partially counterbalanced cytokine changes, as well as aberrant redox homeostasis and the inflammatory status. RTT is associated with a subclinical immune dysregulation as the likely consequence of a defective inflammation regulatory signaling system.

Prevalência de megas em necrópsias realizadas no triângulo mineiro no período de 1954 a 1988

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Edison Reis Lopes

1989-12-01

Full Text Available Dentre 1708 necrópsias de chagásicos crônicos, de um total de 4690, diagnosticamos 273 megas. Destes o mais freqüente foi o megacólon, seguido pelo megaesôfago, ocupando a associação megacólon e megaesôfago o terceiro lugar. Discutem-se e comparam-se os achados com outros de ordem clinico-epidemiológica e anatomopatológica. Confirmando dados da literatura, nossos achados atuais mostram, que a exemplo do que sucede na cardiopatia chagásica, o megacólon e o megaesôfago predominam no sexo masculino, discutindo-se os fatores que poderiam explicar a razão desse fato.One thousand seven hundred and eight chronic chagasic post-mortem examinations studied from a total of4690 autopsies perfomed at our Institution. Two hundred and seventy-three chagasic had megas. Megacolon was the most frequent, followed by megaesophagus. Megacolon associated with megaesophagus was, the third mostcommom finding. Our data are discussed and compared with the literature. Megacolon and megaesophagus were more prevalent in man, as shown by other workers. Higher parasitemia perhaps could explain this finding.

A comparison of the time required by radiologists for the preparation of clinico-radiological meetings when film and PACS are used

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Weatherburn, G.; Bryan, S.; Cousins, C.

2000-01-01

The hypothesis was that when a hospital-wide Picture Archive and Communications System (PACS) is used, preparation for clinico-radiological meetings is faster, and more images are available, than when a conventional film system is used. This paper reports a study which compared the preparation time by radiologists when film was used with the time for the same activity when a hospital-wide PACS was used at Hammersmith Hospital for the preparation of the respiratory medicine and hepato-biliary meetings. It was found that when PACS was used the time per patient to prepare for the respiratory medicine session was reduced by 11.1 min and that similarly, 16 min per patient was saved in the preparation of the hepato-biliary sessions. The number of images which were unavailable for the session was reduced when PACS was in operation, but this reduction was not shown to be statistically significant. The introduction of PACS at Hammersmith Hospital has significantly reduced the time spent by radiologists in preparing for the two clinico-radiological sessions studied and, if this is extended to the other numerous sessions held each week, contributes to a considerable saving of staff time within the radiology department. (orig.)

A template for a clinico-pathological audit of medical liver biopsies.

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Colling, Richard; Fryer, Eve; Cobbold, Jeremy; Collier, Jane; Collantes, Elena; Wang, Lai Mun; Hubscher, Stefan; Wyatt, Judith; Fleming, Kenneth

2015-11-01

With changing indications for performing medical liver biopsies, we aimed to develop a tool to allow pathologists to evaluate the current usefulness, value and impact of their medical liver biopsy service. We designed and piloted a questionnaire-based clinico-pathological audit for medical liver biopsies. The audit tool was simple to implement and provided useful information about our service. Hepatologists felt that 96% of reports were clinically useful. 56% of biopsies confirmed clinical diagnoses, 46% helped differentiate between diagnoses and 42% were able to exclude possible diagnoses. 74% resulted in a change of management and 27% of liver biopsies resulted in a diagnosis which was not clinically suspected. We demonstrate the usefulness of an audit tool in providing evidence of the value of the liver pathology service in a large UK regional centre. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome.

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Bredford Kerr

Full Text Available BACKGROUND: Rett syndrome (RTT is an X-linked postnatal neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2 and one of the leading causes of mental retardation in females. RTT is characterized by psychomotor retardation, purposeless hand movements, autistic-like behavior and abnormal gait. We studied the effects of environmental enrichment (EE on the phenotypic manifestations of a RTT mouse model that lacks MeCP2 (Mecp2(-/y. PRINCIPAL FINDINGS: We found that EE delayed and attenuated some neurological alterations presented by Mecp2(-/y mice and prevented the development of motor discoordination and anxiety-related abnormalities. To define the molecular correlate of this beneficial effect of EE, we analyzed the expression of several synaptic marker genes whose expression is increased by EE in several mouse models. CONCLUSIONS/SIGNIFICANCE: We found that EE induced downregulation of several synaptic markers, suggesting that the partial prevention of RTT-associated phenotypes is achieved through a non-conventional transcriptional program.

Does microglial dysfunction play a role in autism and Rett syndrome?

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Maezawa, Izumi; Calafiore, Marco; Wulff, Heike; Jin, Lee-Way

2011-02-01

Autism spectrum disorders (ASDs) including classic autism is a group of complex developmental disabilities with core deficits of impaired social interactions, communication difficulties and repetitive behaviors. Although the neurobiology of ASDs has attracted much attention in the last two decades, the role of microglia has been ignored. Existing data are focused on their recognized role in neuroinflammation, which only covers a small part of the pathological repertoire of microglia. This review highlights recent findings on the broader roles of microglia, including their active surveillance of brain microenvironments and regulation of synaptic connectivity, maturation of brain circuitry and neurogenesis. Emerging evidence suggests that microglia respond to pre- and postnatal environmental stimuli through epigenetic interface to change gene expression, thus acting as effectors of experience-dependent synaptic plasticity. Impairments of these microglial functions could substantially contribute to several major etiological factors of autism, such as environmental toxins and cortical underconnectivity. Our recent study on Rett syndrome, a syndromic autistic disorder, provides an example that intrinsic microglial dysfunction due to genetic and epigenetic aberrations could detrimentally affect the developmental trajectory without evoking neuroinflammation. We propose that ASDs provide excellent opportunities to study the influence of microglia on neurodevelopment, and this knowledge could lead to novel therapies.

VPA alleviates neurological deficits and restores gene expression in a mouse model of Rett syndrome.

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Weixiang Guo

Full Text Available Rett syndrome (RTT is a devastating neurodevelopmental disorder that occurs once in every 10,000-15,000 live female births. Despite intensive research, no effective cure is yet available. Valproic acid (VPA has been used widely to treat mood disorder, epilepsy, and a growing number of other disorders. In limited clinical studies, VPA has also been used to control seizure in RTT patients with promising albeit somewhat unclear efficacy. In this study we tested the effect of VPA on the neurological symptoms of RTT and discovered that short-term VPA treatment during the symptomatic period could reduce neurological symptoms in RTT mice. We found that VPA restores the expression of a subset of genes in RTT mouse brains, and these genes clustered in neurological disease and developmental disorder networks. Our data suggest that VPA could be used as a drug to alleviate RTT symptoms.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

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Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura; Trotta, Jean-Rémi; Derdak, Sophia; Del Mar O'Callaghan, Maria; Garcia-Cazorla, Àngels; Pineda, Mercè; Armstrong, Judith

2017-09-25

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study.

DXA measurements in Rett syndrome reveal small bones with low bone mass.

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Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine; Andersen, Henrik; Nielsen, Jytte Bieber; Brøndum-Nielsen, Karen; Jensen, Jens-Erik Beck

2011-09-01

Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients with RTT do have low BMD when correcting for smaller bones by examination with dual-energy X-ray absorptiometry (DXA). We compared areal BMD (aBMD(spine) and aBMD(total hip) ) and volumetric bone mineral apparent density (vBMAD(spine) and vBMAD(neck) ) in 61 patients and 122 matched healthy controls. Further, spine and hip aBMD and vBMAD of patients were associated with clinical risk factors of low BMD, low-energy fractures, MECP2 mutation groups, and X chromosome inactivation (XCI). Patients with RTT had reduced bone size on the order of 10% and showed lower values of spine and hip aBMD and vBMAD (p bone mass and small bones are evident in RTT, indicating an apparent low-bone-formation phenotype. Copyright © 2011 American Society for Bone and Mineral Research.

Functional assessment of MeCP2 in Rett syndrome and cancers of breast, colon, and prostate.

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Pandey, Somnath; Pruitt, Kevin

2017-06-01

Ever since the first report that mutations in methyl-CpG-binding protein 2 (MeCP2) causes Rett syndrome (RTT), a severe neurological disorder in females world-wide, there has been a keen interest to gain a comprehensive understanding of this protein. While the classical model associated with MeCP2 function suggests its role in gene suppression via recruitment of co-repressor complexes and histone deacetylases to methylated CpG-sites, recent discoveries have brought to light its role in transcription activation, modulation of RNA splicing, and chromatin compaction. Various post-translational modifications (PTMs) of MeCP2 further increase its functional versatility. Involvement of MeCP2 in pathologies other than RTT, such as tumorigenesis however, remains poorly explored and understood. This review provides a survey of the literature implicating MeCP2 in breast, colon and prostate cancer.

Primary melanoma lung purposely clinico pathologic considerations of a clinical case

International Nuclear Information System (INIS)

Rodríguez, R.; Roldán, G.; Sosa, A.; Mañana, G.; Rodríguez, A.; Panuncio, A.

2004-01-01

Introduction: There are few reports of primary malignant melanomas (M M) of visceral organs, general case of metastatic cutaneous and ocular M M regression suffering go unnoticed or diagnosis. Cases of lung primary melanomas (MPP) that meet the clinico pathologic to be considered as such criteria constitute about 0.01% lung tumors and are published as individual case analysis is impossible series of patients. These criteria are under constant review, constituting a field permanent controversial.Materials and method: A case review of the clinical literature on the most relevant of MPP clinico pathological aspects is performed. Case: This is a patient (Pt), 58 years old, smoker, who consults for elements progressive intracranial hypertension installation without other symptoms to note. the Computed tomography (CT) of the skull shows an expansive process only right temporal. Radiography and CT of the chest then show a right parahiliar single nodule without liver involvement without mediastinal symphadenopathy. Flexible bronchoscopy and bronchial brushing are negative. With the proposition that it is a bearer of a lung carcinoma with second only symptomatic brain macroscopically complete resection is performed head injury. The pathology reports that metastasis is a M M. Is discarded the presence of other injuries, especially to skin and eye. Receive brain radiotherapy and a right lower lobectomy whose analysis confirms that this is a M M is performed and that no there are other lesions in the resected lobe. Analyzed the cost / benefit profile indication treatment (t to) with systemic disease in the absence of other obvious injuries continues regular clinical exams. Remained asymptomatic for 5 months relapsing to brain level no new lesions in the lungs. The p te refuses to receive palliative systemic t to reaching, to the presentation of this work, a survival of 11 months. Discussion: Within the clinical criteria that state that is an MPP, the absence of a history of

Hepatocellular carcinoma: a clinico pathological study

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Abbasi, A.; Butt, N.; Bhutto, A.R.; Gulzar, K.; Munir, S.M.

2010-01-01

To describe the clinico-pathological and radiological profile of hepatocellular carcinoma. All consecutive patients suspected of having hepatocellular carcinoma (HCC), were admitted and included in this study. Diagnosis of HCC was established by clinical, biochemical, ultrasonographic and histopathologic findings. Patients with primary carcinoma elsewhere in the body, metastatic in the liver, fibrolamellar carcinoma and benign tumours were excluded from the study. At ultrasonography, the details of tumour size and number, portal vein thrombosis and presence of ascites were recorded. Patients were staged according to Okuda staging system. Results were described in mean and percentage values. There were 82 patients with hepatocellular carcinoma including 58 males and 24 females, with male to female ratio of 2.8:1. The mean age of patients was 56.24 +- 13.65 years. Right hypochondrial pain was the main symptom in 52 (63.4%) patients. The duration of symptoms varied from 1 month to 2 years. Tumour size was larger than 50% of liver size in 42 (51.2%) with portal vein thrombosis in 10 (12.19%). Anti HCV was positive in 44 (53.7%), HBsAg in 26 (31.7%) and both were found positive in 2 (2.44%) patients. Ten patients (12.2/%) found negative both for anti-HCV and HBsAg. According to Okuda staging system 18 patients had stage 1, 50 had stage 2 and 14 had stage 3 hepatocellular carcinoma. The mean age of presentation of hepatocellular carcinoma was younger as compared to western countries with potentially large non-resectable lesions. Chronic hepatitis C and B was found to be the major known factors. Patients with chronic hepatitis C and B should undergo vigorous HCC surveillance to detect early, potentially respectable HCC. (author)

CLINICO-PATHOLOGICAL STUDY OF CERVICAL LYMPHADENOPATHY

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Dova Subba

2016-03-01

Full Text Available OBJECTIVES To know the incidence and aetiological factors of cervical lymphadenopathy. To know the most common group of lymph nodes enlarged. To assess the response to management. MATERIALS AND METHODS This study includes 50 patients who attended the Surgical OPD, studied taking detailed clinical history, after physical examination and arriving at clinical diagnosis, confirmation was done by FNAC and biopsy. RESULTS Tuberculous lymphadenopathy is the commonest cause of cervical lymphadenopathy with 68% followed by chronic nonspecific lymphadenopathy with 32%. There was no case of sarcoidosis in this series. Disease commonly affected the 2 nd and 3 rd decades with 19% and 18% respectively. There is comparatively an increased incidence of tuberculous cervical lymphadenopathy in females than males. The average age of presentation was 30.5 years. There was no definite history of contact with tuberculosis in 82% of cases. In this study series, 44% of the patients belonged to the low income group, 46% belonged to the middle income group. There was only unilateral involvement of node in 72% of cases right side was affected in 32% and left side was affected in 40% of cases. Bilateral involvement was seen in 14% of the cases. The lymph nodes were associated with other groups of lymph nodes in 10% of cases. Chest radiography findings showed the evidence of coexisting active tuberculosis lesions in 8 out of 50 cases (16% and normal was 42(84%. CONCLUSION Knowledge about clinico-demographic perspectives of cervical lymphadenopathy in respect to their cytopathological diagnosis will help to detect/refer the respective cases early for investigations and treatment. Surgical intervention is definitely required in many cases, though most of the cases are medically curable.

Achados clínicos e patológicos em cães infectados naturalmente por herpesvírus canino

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Oliveira, Eduardo C.; Sonne, Luciana; Bezerra Júnior, Pedro S.; Teixeira, Elisa M.; Dezengrini, Renata; Pavarini, Saulo P.; Flores, Eduardo F.; Driemeier, David

2009-01-01

Descrevem-se os achados clínicos e patológicos e os exames laboratoriais de filhotes de cães com diagnóstico post mortem de infecção por herpesvírus canino. Os casos ocorreram em duas propriedades da Cidade de Porto Alegre, Rio Grande do Sul, em abril de 2007 e julho de 2008. Clinicamente, os cães apresentaram anorexia, apatia, choro e dispneia. A morte dos cães ocorreu após 24-72 horas do início dos sinais clínicos. Na necropsia observaram-se hemorragia multifocal renal e hepatomegalia com p...

Unusual magnetic resonance findings in two children with sudden sensorineural hearing loss Achados incomuns nas ressonâncias magnéticas de duas crianças com perda auditiva neuro-sensorial súbita

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Emerson L. Gasparetto

2005-12-01

Full Text Available OBJECTIVE: To describe the MRI findings of two pediatric patients with sudden sensorineural hearing loss (SSHL. CASE REPORTS: Two male patients (two-year and three-months-old, and one year and four-months-old presented with sudden dumbness. Physical and neurological examinations were unremarkable besides bilateral hypoacusia. All the laboratory investigation was negative, and brain stem auditory evoked potentials showed deep bilateral deafness in both cases. MRI studies revealed normal inner ears and multifocal white matter areas of slight low signal on T1-weighted images and high signal on FLAIR images. The follow-up MRI studies and neurological examinations did not demonstrate alterations in the previous findings. CONCLUSION: Pediatric patients with SSHL may present cerebral white matter signal abnormalities at the MRI as the only finding. Further studies with larger casuistics need to be conducted to elucidate these findings.OBJETIVO: Descrever os achados de ressonância magnética (RM em dois pacientes pediátricos com perda auditiva neuro-sensorial súbita (PANS. RELATO DOS CASOS: Dois pacientes masculinos (dois anos e três meses e um ano e quarto meses de idade apresentaram-se com surdez súbita. Os exames físico e neurológico foram normais, à exceção da hipoacusia. Toda a investigação laboratorial foi normal, e os potenciais auditivos evocados do tronco cerebral demonstraram surdez profunda bilateral. Os exames de RM evidenciaram estruturas normais dos ouvidos internos e áreas multifocais de discreto hipossinal em T1 e hipersinal em FLAIR na substância branca dos hemisférios cerebrais. As RMs e os exames neurológicos de controle não demonstraram alterações nos achados prévios. CONCLUSÃO: Pacientes pediátricos com PANS podem apresentar à RM alterações de sinal na substância branca dos hemisférios cerebrais como único achado. Estudos futuros com casuísticas maiores deverão ser conduzidos para a elucidação destes

Adrenoleucodistrofia (leucodistrofia melanodermica: registro de um caso anatomo-clinico

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Mario Wilson Iervolino Brotto

1979-06-01

Full Text Available É relatado o caso de um paciente de 14 anos, do sexo masculino, com esclerose cerebral difusa precedida em 7 anos de sinais de insuficiência do córtex supra-renal, com antecedentes familiares. Clinicamente a doença é caracterizada por deterioração mental, distúrbios da marcha e da visão, associados com insuficiência do córtex supra-renal. Confirmando os dados da literatura, em nosso caso o estudo anátomo-patológico revelou desmielinização e gliose difusa na substância branca cerebral, poupando as fibras subcorticais. Células inflamatórias são comuns e têm distribuição perivascular. Na zona fasciculada e reticular da supra-renal, células "balonadas" são evidentes, muitas delas apresentando citoplasma vacuolizado e com estriações. Inclusões lipídicas similares têm sido encontradas nas células de Schwann dos nervos periféricos e dos testículos. Os achados são comparados com vinte casos da literatura.

Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome

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Bianca De Filippis

2015-01-01

Full Text Available Rett syndrome (RTT is a rare neurodevelopmental disorder, characterized by severe behavioural and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2 cause more than 95% of classic cases. Motor abnormalities represent a significant part of the spectrum of RTT symptoms. In the present study we investigated motor coordination and fine motor skill domains in MeCP2-308 female mice, a validated RTT model. This was complemented by the in vivo magnetic resonance spectroscopy (MRS analysis of metabolic profile in behaviourally relevant brain areas. MeCP2-308 heterozygous female mice (Het, 10-12 months of age were impaired in tasks validated for the assessment of purposeful and coordinated forepaw use (Morag test and Capellini handling task. A fine-grain analysis of spontaneous behaviour in the home-cage also revealed an abnormal handling pattern when interacting with the nesting material, reduced motivation to explore the environment, and increased time devoted to feeding in Het mice. The brain MRS evaluation highlighted decreased levels of bioenergetic metabolites in the striatal area in Het mice compared to controls. Present results confirm behavioural and brain alterations previously reported in MeCP2-308 males and identify novel endpoints on which the efficacy of innovative therapeutic strategies for RTT may be tested.

A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.

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Christianto, Antonius; Katayama, Syouichi; Kameshita, Isamu; Inazu, Tetsuya

2016-08-01

Rett syndrome (RTT) is a severe X-linked dominant inheritance disorder with a wide spectrum of clinical manifestations. Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT. This study was conducted to identify the responsible gene(s) in atypical RTT patient, and to examine the effect of the mutation on protein function. DNA sequence analysis showed a novel heterozygous mutation in CDKL5 identified as c.530A>G which resulted in an amino acid substitution at position 177, from tyrosine to cysteine. Genotyping analysis indicated that the mutation was not merely a single nucleotide polymorphism (SNP). We also revealed that patient's blood lymphocytes had random X-chromosome inactivation (XCI) pattern. Further examination by bioinformatics analysis demonstrated the mutation caused damage or deleterious in its protein. In addition, we demonstrated in vitro kinase assay of mutant protein showed impairment of its activity. Taken together, the results suggested the mutant CDKL5 was responsible for the disease. Copyright © 2016 Elsevier B.V. All rights reserved.

Neurocisticercose: estudo clínico e patológico de 27 casos de necrópsia

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MONTEMÓR NETTO MÁRIO RODRIGUES

2000-01-01

Full Text Available Neurocisticercose é a mais frequente e disseminada neuroparasitose humana. O desenvolvimento de lesões no cérebro e leptomeninges, com consequente aparecimento de sintomas, está relacionado com a resposta imune do hospedeiro, ao número e à fase de involução dos parasitas . Relatamos os achados anatomopatológicos durante a necrópsia em 27 casos de neurocisticercose, que corresponderam a 3,1% dos casos necropsiados no serviço. 77% dos pacientes eram masculinos, com idade variando entre 18 e 85 anos. Em 26% dos casos havia história de alcoolismo. A análise clinico-patológica mostrou que 50% dos casos eram da forma assintomática, 11% da forma epiléptica, 11% da forma intraventricular e 11% da forma combinada. 33% dos pacientes apresentaram crise epiléptica como fator agravante do quadro clínico. O cisticerco era único em 60% dos casos, a forma cellulosae estava presente em 82% e a racemosa em 7% dos casos, sendo os 11% restantes portadores da forma combinada. Em 30% dos pacientes a causa mortis estava relacionada com a presença do cisticerco no sistema nervoso central. Nossos achados confirmam a alta morbidade desta parasitose.

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

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José Salomão Schwartzman

2015-05-01

Full Text Available Objective To compare visual fixation at social stimuli in Rett syndrome (RT and autism spectrum disorders (ASD patients. Method Visual fixation at social stimuli was analyzed in 14 RS female patients (age range 4-30 years, 11 ASD male patients (age range 4-20 years, and 17 children with typical development (TD. Patients were exposed to three different pictures (two of human faces and one with social and non-social stimuli presented for 8 seconds each on the screen of a computer attached to an eye-tracker equipment. Results Percentage of visual fixation at social stimuli was significantly higher in the RS group compared to ASD and even to TD groups. Conclusion Visual fixation at social stimuli seems to be one more endophenotype making RS to be very different from ASD.

Achados cirúrgicos em 260 casos de impressão basilar e/ou malformação de Arnold-Chiari

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José Alberto Gonçalves da Silva

1994-09-01

Full Text Available A impressão basilar é malformação frequentemente observada no Nordeste do Brasil. No período de 1971 a 1992 foram operados, em nosso Serviço, 260 pacientes com malformações occipitocervicais, sendo 29 (11,1% casos de impressão basilar pura, 18 (6,9% com malformação de Arnold-Chiari e 213 (81,9% com impressão basilar associada à malformação de Arnold-Chiari. São relatados os achados cirúrgicos do plano ósseo, da dura-máter, do tecido nervoso e dos vasos da fossa posterior.

CT scan findings in mild head trauma: a series of 2,000 patients Achados tomográficos no trauma cranioencefálico leve: análise de 2000 casos

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Kelly C. Bordignon

2002-06-01

Full Text Available The present study describes the cranial computed tomography (CT scan findings of 2,000 cases of mild head trauma (HT in Curitiba, Southern Brazil. The mean age of the entire series was 30.8 ±19 years. The overall male to female ratio was 2:1. The most common causes of head injury were interpersonal aggression (17.9%, falls (17.4%, automobile accidents (16.2%, falls to the ground (13.1% and pedestrian injuries (13 %. Alcohol intoxication was associated with HT in 158 cases (7.9%. A normal CT scan was seen in 60.75% (1215 and an abnormal CT scan in 39.25% (785 of patients. Out of 785 abnormal CT scan, 518(65.9% lesions were related to HT. The most common CT scan HT related findings were: soft tissue swelling (8.9 %, skull fractures (4.3 %, intracranial and subgaleal hematomas (3.4% and 2.4 %, brain swelling (2 % and brain contusion (1.2%. Out of 785 abnormal CT scans, 267 (34.1% lesions were not related to head trauma. Incidental CT scan findings included brain atrophy (5.9%, one calcification (5.2% several calcifications (2.4% (probably neurocysticercosis in most cases, ischemic infarct (1.9% and leukoaraiosis (1.3%. These findings showed the importance of CT scan examination in mild head injuries. Further studies to identify mild HT patients at higher risk of significant brain injury are warranted in order to optimize its use.São descritos os achados de tomografia computadorizada craniana (TC de 2000 casos de trauma cranio-encefálico (TCE leve em Curitiba, Paraná. A idade média de toda série de pacientes foi 30,8 ± 19 anos. A razão homem/mulher foi 2:1. A causas mais comuns de TCE foram agressão interpessoal (17,9%, quedas de nível (17,4%, acidentes automobilísticos (16,2%, queda ao solo (13,1% e atropelamento (13%. Intoxicação por álcool foi um importante fator associado ao TCE e esteve presente em 158 casos (7,9% de 2000 pacientes. Uma TC normal ocorreu em 60,75% (1215 e uma TC anormal em 39,25% (785 dos pacientes. Das 785 TC

[Clinico-morphological peculiarities of thyroid cancer among children exposed to the Chernobyl disaster radiation].

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Iakovleva, I N; Shishkov, R V; Poliakov, V G; Pankova, P A

2008-01-01

The paper deals with a comparison of clinico-morphological patterns of sporadic thyroid cancer and that in pediatric patients exposed to radiation during the Chernobyl disaster. The latter are highly prone to both local and regional metastatic spread to the lymph nodes (intrathyroid distribution--61%; extension through capsule--42%, and metastases to the neck lymph nodes--66%). However, these data do not differ significantly from those for intact areas. Yet, cancer occurs in exposed cohorts at an earlier stage: its incidence at age 4-6 is 2-3.5 higher and that of relapse such as presentation of latent metastases to the lymph nodes and tumor foci development in residual tumor tissue is 1.6 times the average. Also, morphological patterns have changed: typical papillary cancer incidence has dropped by half while the diffuse follicular variety has grown 1.8-fold.

Prognostic factors for keratocystic odontogenic tumor (odontogenic keratocyst): analysis of clinico-pathologic and immunohistochemical findings in cysts treated by enucleation.

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Kuroyanagi, Norio; Sakuma, Hidenori; Miyabe, Satoru; Machida, Junichiro; Kaetsu, Atsuo; Yokoi, Motoo; Maeda, Hatsuhiko; Warnakulasuriya, Saman; Nagao, Toru; Shimozato, Kazuo

2009-04-01

The purpose of this study was to determine prognostic factors for the recurrence of keratocystic odontogenic tumors (KCOTs) following simple enucleation by examining clinico-pathologic and immunohistochemical findings. Following enucleation, the frequency of recurrence among 32 subjects diagnosed with KCOT was analyzed for tumor site, radiographic and histologic features, and immunopositivity for Ki-67 and p53. Keratocystic odontogenic tumors in four out of 32 subjects (12.5%) recurred during the follow-up period (median: 33 months, range: 7-114 months). Three out of four subjects (75.0%) among recurrent group showed high expression of Ki-67 (LI >10%) in basal layer and four (4/28; 14.3%) among non-recurrence group (P = 0.025). Expression of p53 among non-recurrent group was observed in 11 subjects (11/28; 39.3%), and in three subjects (3/4; 75.0%) among the recurrent group (P = 0.295). Hazard risk for the recurrence of KCOT was 4.02 (95% CI 1.42-18.14) for high Ki-67 expression in the basal layer by the Cox proportional hazard model (P = 0.009). In our study, none of the other clinico-pathologic variables were associated with the recurrence of KCOT. The results suggested that the evaluation of Ki-67 expression in KCOT at the time of pathological diagnosis might be helpful for consideration of appropriate adjunctive surgical procedures to avoid a recurrence and may serve as a prognostic marker.

Bilirubin-Induced Neurological Dysfunction: A Clinico-Radiological-Neurophysiological Correlation in 30 Consecutive Children.

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van Toorn, Ronald; Brink, Philip; Smith, Johan; Ackermann, Christelle; Solomons, Regan

2016-12-01

The clinical expression of bilirubin-induced neurological dysfunction varies according to severity and location of the disease. Definitions have been proposed to describe different bilirubin-induced neurological dysfunction subtypes. Our objective was to describe the severity and clinico-radiological-neurophysiological correlation in 30 consecutive children with bilirubin-induced neurological dysfunction seen over a period of 5 years. Thirty children exposed to acute neonatal bilirubin encephalopathy were included in the study. The mean peak total serum bilirubin level was 625 μmol/L (range 480-900 μmol/L). Acoustic brainstem responses were abnormal in 73% (n = 22). Pallidal hyperintensity was observed on magnetic resonance imaging in 20 children. Peak total serum bilirubin levels correlated with motor severity (P = .03). Children with severe motor impairment were likely to manifest severe auditory neuropathy (P bilirubin-induced neurological dysfunction subtype, and the majority of children had abnormal acoustic brainstem responses and magnetic resonance imaging. © The Author(s) 2016.

Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome.

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Ronghui Li

2016-06-01

Full Text Available Mutations in the human MECP2 gene cause Rett syndrome (RTT, a severe neurodevelopmental disorder that predominantly affects girls. Despite decades of work, the molecular function of MeCP2 is not fully understood. Here we report a systematic identification of MeCP2-interacting proteins in the mouse brain. In addition to transcription regulators, we found that MeCP2 physically interacts with several modulators of RNA splicing, including LEDGF and DHX9. These interactions are disrupted by RTT causing mutations, suggesting that they may play a role in RTT pathogenesis. Consistent with the idea, deep RNA sequencing revealed misregulation of hundreds of splicing events in the cortex of Mecp2 knockout mice. To reveal the functional consequence of altered RNA splicing due to the loss of MeCP2, we focused on the regulation of the splicing of the flip/flop exon of Gria2 and other AMPAR genes. We found a significant splicing shift in the flip/flop exon toward the flop inclusion, leading to a faster decay in the AMPAR gated current and altered synaptic transmission. In summary, our study identified direct physical interaction between MeCP2 and splicing factors, a novel MeCP2 target gene, and established functional connection between a specific RNA splicing change and synaptic phenotypes in RTT mice. These results not only help our understanding of the molecular function of MeCP2, but also reveal potential drug targets for future therapies.

Comparison of clinico-radiological features of patients with positive cultures of nontuberculous mycobacteria and patients with tuberculosis

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Ba-Hammam, Ahmed; Sharif, Yasir; Masood, Mohammad; Isnani, Arthur; Youssef, Ismael; Kambal, Abdelmageed; Shaikh, Shaffi

2005-01-01

To identify the clinico-radiological features of patients with positive cultures for nontuberculous mycobacteria (NTM) and compare those to a sample of patients with tuberculosis (MTB). A laboratory database was used to retrieve all specimens submitted to King Khalid University Hospital, Riyadh, mycobacteriology laboratory for mycobacterial smears and cultures during the period from October 1999-April 2002. Using this database, the original records of the mycobacteriology laboratory and a review of the patient's health records, a standard proforma was completed that included demographic, clinical, radiological and laboratory information on patients included in this study. The patients were divided into 2 groups; the NTM group, which included patients with positive cultures for NTM and the MTB group, which included a sample of patients with documented tuberculosis. During the study period, 286 patients had positive mycobacterial cultures. Seventy patients (24.5%) grew NTM and 216 (75.5%) grew MTB. For patients with MTB, 54 patients were included as per the selection protocol of the study. There was no difference between the 2 groups in all measured demographic variables. The presence of weight loss and fever was significantly more in the MTB group. Radiologically, the presence of hilar adenopathy was more significant among patients with MTB than those with NTM (17% versus 4%, p=0.02). However, bronchiectatic changes were seen significantly more among NTM patients compared to patients with MTB (26% versus 11%, p=0.03). The isolation of NTM in the mycobacteriology laboratory is high. The clinico-radiological features were not sufficiently specific to differentiate patients with NTM from patients with MTB. Local studies are needed to explore NTM disease in various developing countries and identify the NTM species causing infections in non-immunosuppressed patients in each locality. (author)

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.

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Nectoux, J; Fichou, Y; Rosas-Vargas, H; Cagnard, N; Bahi-Buisson, N; Nusbaum, P; Letourneur, F; Chelly, J; Bienvenu, T

2010-07-01

More than 90% of Rett syndrome (RTT) patients have heterozygous mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene that encodes the methyl-CpG-binding protein 2, a transcriptional modulator. Because MECP2 is subjected to X chromosome inactivation (XCI), girls with RTT either express the wild-type or mutant allele in each individual cell. To test the consequences of MECP2 mutations resulting from a genome-wide transcriptional dysregulation and to identify its target genes in a system that circumvents the functional mosaicism resulting from XCI, we carried out gene expression profiling of clonal populations derived from fibroblast primary cultures expressing exclusively either the wild-type or the mutant MECP2 allele. Clonal cultures were obtained from skin biopsy of three RTT patients carrying either a non-sense or a frameshift MECP2 mutation. For each patient, gene expression profiles of wild-type and mutant clones were compared by oligonucleotide expression microarray analysis. Firstly, clustering analysis classified the RTT patients according to their genetic background and MECP2 mutation. Secondly, expression profiling by microarray analysis and quantitative RT-PCR indicated four up-regulated genes and five down-regulated genes significantly dysregulated in all our statistical analysis, including excellent potential candidate genes for the understanding of the pathophysiology of this neurodevelopmental disease. Thirdly, chromatin immunoprecipitation analysis confirmed MeCP2 binding to respective CpG islands in three out of four up-regulated candidate genes and sequencing of bisulphite-converted DNA indicated that MeCP2 preferentially binds to methylated-DNA sequences. Most importantly, the finding that at least two of these genes (BMCC1 and RNF182) were shown to be involved in cell survival and/or apoptosis may suggest that impaired MeCP2 function could alter the survival of neurons thus compromising brain function without inducing cell death.

Intraocular osseous metaplasia. A clinico-pathological study.

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Vemuganti, Geeta K; Honavar, Santosh G; Jalali, Subhadra

2002-09-01

To evaluate the clinico-pathologic features of intraocular osseous metaplasia. Pathology specimens of enucleated eyes submitted to the ophthalmic pathology service at a tertiary eye-care referral center between January 1995 and June 1999 were studied for intraocular osseous metaplasia. Specific histopathologic features noted in specimens with osseous metaplasia were the presence of retinal detachment, gliosis, retinal pigment epithelial hyperplasia, drusen, epiretinal membrane, fibrovascular proliferation and inflammation. Immunohistochemistry using monoclonal antibody against glial fibrillary acidic protein was performed to assess the glial component within the membranes and the proliferative vitreoretinal mass. Clinical records were reviewed and correlated with histopathologic findings. Osseous metaplasiaS was noted in 8 of 151 (5.2%) eyes examined. Clinical diagnosis in these was phthisis bulbi, staphyloma, absolute glaucoma and microphthalmos. Enucleation was performed for relief of symptoms (in painful blind eyes) or for cosmesis, and in an eye inciting sympathetic ophthalmia. Retinal detachment, gliosis and retinal pigment epithelial hyperplasia were noted in all the cases. Drusen with calcification or ossification (5 of 8), fibrovascular proliferation in the vitreous (5 of 8) and active inflammation (4 of 8) were the other associated histologic features. Location of ossification was subretinal in 3 cases, preretinal (ora serrata) in 1 case and in both locations in 4 cases. The eyes with subretinal osseous metaplasia had associated calcified drusen, while preretinal ossification was seen within the fibrovascular membranes. Chronic retinal detachment, hyperplasia and transdifferentiation of retinal pigment epithelium appear to be a few of the prerequisites for intraocular osseous metaplasia. Ossification can occur at isolated subretinal and preretinal locations or can involve both. Though a larger study is required to postulate the chronology of events, in

Intraocular osseous metaplasia. A clinico-pathological study

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Vemuganti Geeta

2002-01-01

Full Text Available Purpose: To evaluate the clinico-pathologic features of intraocular osseous metaplasia. Methods: Pathology specimens of enucleated eyes submitted to the ophthalmic pathology service at a tertiary eye-care referral center between January 1995 and June 1999 were studied for intraocular osseous metaplasia. Specific histopathologic features noted in specimens with osseous metaplasia were the presence of retinal detachment, gliosis, retinal pigment epithelial hyperplasia, drusen, epiretinal membrane, fibrovascular proliferation and inflammation. Immunohistochemistry using monoclonal antibody against glial fibrillary acidic protein was performed to assess the glial component within the membranes and the proliferative vitreoretinal mass. Clinical records were reviewed and correlated with histopathologic findings. Results: Osseous metaplasiaS was noted in 8 of 151 (5.2% eyes examined. Clinical diagnosis in these was phthisis bulbi, staphyloma, absolute glaucoma and microphthalmos. Enucleation was performed for relief of symptoms (in painful blind eyes or for cosmesis, and in an eye inciting sympathetic ophthalmia. Retinal detachment, gliosis and retinal pigment epithelial hyperplasia were noted in all the cases. Drusen with calcification or ossification (5 of 8, fibrovascular proliferation in the vitreous (5 of 8 and active inflammation (4 of 8 were the other associated histologic features. Location of ossification was subretinal in 3 cases, preretinal (ora serrata in 1 case and in both locations in 4 cases. The eyes with subretinal osseous metaplasia had associated calcified drusen, while preretinal ossification was seen within the fibrovascular membranes. Conclusion: Chronic retinal detachment, hyperplasia and transdifferentiation of retinal pigment epithelium appear to be a few of the prerequisites for intraocular osseous metaplasia. Ossification can occur at isolated subretinal and preretinal locations or can involve both. Though a larger study is

Comparação entre os achados ultra-sonográficos, histeroscópicos e histopatológicos no sangramento uterino da pós-menopausa Comparison of ultrasonographic, hysteroscopic and histopathologic findings in women with postmenopausal uterine bleeding

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Adriana Scavuzzi

2003-05-01

Full Text Available OBJETIVOS: Determinar a associação entre os achados ultra-sonográficos, histeroscópicos e histopatológicos em mulheres com sangramento uterino na pós-menopausa. MÉTODOS: realizou-se estudo descritivo, retrospectivo, tipo transversal, incluindo 156 pacientes com sangramento uterino na pós-menopausa atendidas no Centro Diagnóstico do Instituto Materno-Infantil de Pernambuco no período de janeiro de 1995 a dezembro de 2001. Os resultados ultra-sonográficos foram classificados como anormais ou normais, de acordo com os pontos de corte de 4 e 5 mm. Determinou-se a freqüência dos principais achados histeroscópicos e histopatológicos destas mulheres, categorizados como lesões pré-malignas/malignas (hiperplasias/câncer e lesões benignas. Determinou-se ainda a concordância entre os achados histeroscópicos e histopatológicos. RESULTADOS: a freqüência de espessamento do eco endometrial de acordo com os pontos de corte de 4 mm e 5 mm foi de 75% e de 67,3%, respectivamente. O achado histeroscópico mais freqüente foi o endométrio atrófico (37,8%, seguindo-se os pólipos endometriais (35,9%, hiperplasia do endométrio (10,9%, câncer de endométrio (10,3%, endométrio funcionante (30.2% e outros achados (1,9%. Em relação aos achados histopatológicos, observou-se também maior freqüência do endométrio atrófico (31,4%, seguindo-se os pólipos endometriais (26,3%, material insuficiente (16,0%, câncer de endométrio (10,9%, hiperplasia (9,0% e outros achados (6,4%. Observou-se associação estatisticamente significante entre espessamento endometrial e presença de lesões pré-malignas e malignas. Observou-se um único caso de malignidade em pacientes com ponto de corte de 5 mm, e nenhum caso foi evidenciado com o ponto de corte de 4 mm. Encontrou-se uma boa taxa de concordância entre os achados histeroscópicos e histopatológicos (kappa = 0,61. CONCLUSÕES: a freqüência de eco endometrial espessado foi de 75% e de 67,3% com

Differential DNA methylation profiles in gynecological cancers and correlation with clinico-pathological data

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Tsang Percy CK

2006-08-01

Full Text Available Abstract Background Epigenetic gene silencing is one of the major causes of carcinogenesis. Its widespread occurrence in cancer genome could inactivate many cellular pathways including DNA repair, cell cycle control, apoptosis, cell adherence, and detoxification. The abnormal promoter methylation might be a potential molecular marker for cancer management. Methods For rapid identification of potential targets for aberrant methylation in gynecological cancers, methylation status of the CpG islands of 34 genes was determined using pooled DNA approach and methylation-specific PCR. Pooled DNA mixture from each cancer type (50 cervical cancers, 50 endometrial cancers and 50 ovarian cancers was made to form three test samples. The corresponding normal DNA from the patients of each cancer type was also pooled to form the other three control samples. Methylated alleles detected in tumors, but not in normal controls, were indicative of aberrant methylation in tumors. Having identified potential markers, frequencies of methylation were further analyzed in individual samples. Markers identified are used to correlate with clinico-pathological data of tumors using χ2 or Fisher's exact test. Results APC and p16 were hypermethylated across the three cancers. MINT31 and PTEN were hypermethylated in cervical and ovarian cancers. Specific methylation was found in cervical cancer (including CDH1, DAPK, MGMT and MINT2, endometrial cancer (CASP8, CDH13, hMLH1 and p73, and ovarian cancer (BRCA1, p14, p15, RIZ1 and TMS1. The frequencies of occurrence of hypermethylation in 4 candidate genes in individual samples of each cancer type (DAPK, MGMT, p16 and PTEN in 127 cervical cancers; APC, CDH13, hMLH1 and p16 in 60 endometrial cancers; and BRCA1, p14, p16 and PTEN in 49 ovarian cancers were examined for further confirmation. Incidence varied among different genes and in different cancer types ranging from the lowest 8.2% (PTEN in ovarian cancer to the highest 56

Differential DNA methylation profiles in gynecological cancers and correlation with clinico-pathological data

International Nuclear Information System (INIS)

Yang, Hui-Juan; Liu, Vincent WS; Wang, Yue; Tsang, Percy CK; Ngan, Hextan YS

2006-01-01

Epigenetic gene silencing is one of the major causes of carcinogenesis. Its widespread occurrence in cancer genome could inactivate many cellular pathways including DNA repair, cell cycle control, apoptosis, cell adherence, and detoxification. The abnormal promoter methylation might be a potential molecular marker for cancer management. For rapid identification of potential targets for aberrant methylation in gynecological cancers, methylation status of the CpG islands of 34 genes was determined using pooled DNA approach and methylation-specific PCR. Pooled DNA mixture from each cancer type (50 cervical cancers, 50 endometrial cancers and 50 ovarian cancers) was made to form three test samples. The corresponding normal DNA from the patients of each cancer type was also pooled to form the other three control samples. Methylated alleles detected in tumors, but not in normal controls, were indicative of aberrant methylation in tumors. Having identified potential markers, frequencies of methylation were further analyzed in individual samples. Markers identified are used to correlate with clinico-pathological data of tumors using χ 2 or Fisher's exact test. APC and p16 were hypermethylated across the three cancers. MINT31 and PTEN were hypermethylated in cervical and ovarian cancers. Specific methylation was found in cervical cancer (including CDH1, DAPK, MGMT and MINT2), endometrial cancer (CASP8, CDH13, hMLH1 and p73), and ovarian cancer (BRCA1, p14, p15, RIZ1 and TMS1). The frequencies of occurrence of hypermethylation in 4 candidate genes in individual samples of each cancer type (DAPK, MGMT, p16 and PTEN in 127 cervical cancers; APC, CDH13, hMLH1 and p16 in 60 endometrial cancers; and BRCA1, p14, p16 and PTEN in 49 ovarian cancers) were examined for further confirmation. Incidence varied among different genes and in different cancer types ranging from the lowest 8.2% (PTEN in ovarian cancer) to the highest 56.7% (DAPK in cervical cancer). Aberrant methylation

Achados ecográficos em pacientes com catarata total Ultrasound findings in patients with dense cataracts

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Zélia Maria da Silva Corrêa

2002-12-01

Full Text Available Objetivos: Avaliar a prevalência e a natureza das anomalias intra-oculares detectadas no exame de ultra-som em pacientes com catarata densa (total e comparar estes achados com aqueles obtidos após cirurgia de catarata. Métodos: Foram revisados 724 ultra-sonografias oculares realizadas entre janeiro de 1999 e julho de 2001. Destas, 289 exames foram solicitadas em casos de catarata densa (total pela impossibilidade de observar o segmento posterior. Os achados ultra-sonográficos foram documentados por fotografias e revisados para o estudo. Seguimento pós-operatório foi possível em 131 pacientes para avaliar sensibilidade e especificidade do ultra-som como método diagnóstico. A análise estatística foi feita com o teste t de "Student" usando o pacote estatístico SPSS "Statistical Package for the Social Science" 8.0 para Windows. Resultados: Foram estudados 289 pacientes com catarata densa, todos avaliados com ultra-som; 200 destes apresentavam alterações ecográficas em segmento posterior. Nos pacientes sem história de trauma ocular (n=268, 82 olhos (30,6% apresentaram segmento posterior normal e 26 olhos (9,7%, descolamento de retina. Nos pacientes com história de trauma ocular (n=21 foram encontrados 8 olhos com descolamento de retina (38,1% e 7 normais (33,3%. A concordância entre os achados ecográficos e pós-operatórios foi de 95,4% nos 131 pacientes com seguimento pós-operatório. O ultra-som apresentou sensibilidade de 91,3% e especificidade de 100%. Conclusão: Neste estudo, a avaliação pré-operatória de cataratas densas com ultra-som se mostrou eficiente em diagnosticar alterações do segmento posterior. A sensibilidade e a especificidade deste exame complementar na amostra estudada confirmam a importância do ultra-som na avaliação pré-operatória de pacientes com cataratas densas.Purpose: To evaluate the prevalence and nature of intra-ocular abnormalities detected by conventional B-scan ultrasound in patients

Genetic progression in microsatellite instability high (MSI-H) colon cancers correlates with clinico-pathological parameters: A study of the TGRbetaRII, BAX, hMSH3, hMSH6, IGFIIR and BLM genes.

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Calin, G A; Gafà, R; Tibiletti, M G; Herlea, V; Becheanu, G; Cavazzini, L; Barbanti-Brodano, G; Nenci, I; Negrini, M; Lanza, G

2000-05-20

Colon carcinomas with microsatellite mutator phenotype exhibit specific genetic and clinico-pathological features. This report describes the analysis of 63 "microsatellite instability-high" (MSI-H) tumors for the presence of mutations in microsatellites located in the coding regions (CDRs) of 6 genes: TGFbetaRII, BAX, hMSH3, hMSH6, IGFIIR, and BLM. The following frequencies of mutations were detected: TGFbetaRII (70%), BAX (54%), hMSH3 (36.5%), IGFIIR (22%), hMSH6 (17.5%), and BLM (16%). The overall picture revealed combinations of mutations suggestive of a progressive order of accumulation, with mutations of TGFbetaRII and BAX first, followed by frameshifts in hMSH3, hMSH6, IGFIIR, and BLM. Correlations with 12 clinico-pathological parameters revealed that tumors with frameshifts in 1 or 2 CDRs were significantly better differentiated than tumors with frameshifts in more than 2 CDRs. We also found that mutations in the hMSH3 gene were significantly associated with decreased wall invasiveness and aneuploidy, and frameshifts in the BLM gene were significantly associated with the mucinous histotype. A trend toward an association between hMSH3 and IGFIIR with the medullary and conventional adenocarcinoma histotypes, respectively, was seen. Our results strengthen the concept that mutations in target genes have a role in the tumorigenic process of MSI-H tumors, and indicate that frameshifts in microsatellites located in CDRs occur in a limited number of combinations that could determine distinct clinico-pathological traits. Copyright 2000 Wiley-Liss, Inc.

Clinico-laboratory spectrum of dengue viral infection and risk factors associated with dengue hemorrhagic fever: a retrospective study.

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Mallhi, Tauqeer Hussain; Khan, Amer Hayat; Adnan, Azreen Syazril; Sarriff, Azmi; Khan, Yusra Habib; Jummaat, Fauziah

2015-09-30

The incidence of dengue is rising steadily in Malaysia since the first major outbreak in 1973. Despite aggressive measures taken by the relevant authorities, Malaysia is still facing worsening dengue crisis over the past few years. There is an urgent need to evaluate dengue cases for better understanding of clinic-laboratory spectrum in order to combat this disease. A retrospective analysis of dengue patients admitted to a tertiary care teaching hospital during the period of six years (2008 - 2013) was performed. Patient's demographics, clinical and laboratory findings were recorded via structured data collection form. Patients were categorized into dengue fever (DF) and dengue hemorrhagic fever (DHF). Appropriate statistical methods were used to compare these two groups in order to determine difference in clinico-laboratory characteristics and to identify independent risk factors of DHF. A total 667 dengue patients (30.69 ± 16.13 years; Male: 56.7 %) were reviewed. Typical manifestations of dengue like fever, myalgia, arthralgia, headache, vomiting, abdominal pain and skin rash were observed in more than 40 % patients. DHF was observed in 79 (11.8 %) cases. Skin rash, dehydration, shortness of breath, pleural effusion and thick gall bladder were more significantly (P  40 years (OR: 4.1, P hospitalization (OR: 2.3, P = 0.037) as independent predictors of DHF. Overall mortality was 1.2 % in our study. Current study demonstrated that DF and DHF present significantly different clinico-laboratory profile. Older age, secondary infection, diabetes mellitus, lethargy, thick gallbladder and delayed hospitalization significantly predict DHF. Prior knowledge of expected clinical profile and predictors of DHF/DSS development would provide information to identify individuals at higher risk and on the other hand, give sufficient time to clinicians for reducing dengue related morbidity and mortality.

Pituitary stalk transection syndrome: Comparison of clinico-radiological features in adults and children with review of literature

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Kulkarni, Chinmay; Moorthy, Srikanth; Pullara, Sreekumar K; Rajeshkannan, R; Unnikrishnan, Ambika G

2012-01-01

Hypo-pituitarism results from impaired production of one or more of anterior pituitary trophic hormones. A rare cause of hypo-pituitarism is pituitary stalk transection syndrome. The MRI features of this condition in children and its association with hormonal deficiencies have been reported earlier. Reports on adults with this disorder are scarce, with only one small case series published in the recent literature. We studied the hormonal deficiency pattern and MRI findings of 12 patients with pituitary stalk transection syndrome who presented to our department between 2004 and 2011. Six patients were children and six were adults (≥18 years). This article compares the adult clinico-radiological phenotype of pituitary transection syndrome with the pediatric group of patients with same condition

Basal Cell Epithelioma (A Clinico-pathological Study of 172 Cases

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R L Solanki

1989-01-01

Full Text Available The present paper deals with a clinico-pathological analysis of 172 cases of basal cell epithelioma representing 28% of the total skin cancer case. 1.44% of the total malignant tumours, 1% of the total tumours and 0.24% of the hospital admissions. M:F ratio was 1.26:1. The mean age was 54.06 years with the maximum number of cases in the fifth decade., Most (94% of the lesions were seen on the head and neck region. Histopathologically it showed solid (60.5%, adenoid cystic (15,7%, keratotic (9.3%, pigmented (6.4%, basi-squamous (3.5% and morphoea patterns (2.3%. Perineural lymphatic invasion was seen in 52% of the adenoid cystic basal call epithelioma. Amyloid (12.8% and amyloid like deposits (29.65% were seen in 42% of the case. Amyloid deposits were seen as lichen amyloidosis in 10.46% cases and in or around the tumour cell masses in 16.8% cases. It appeared as structureless homogeneous eosinophilic material and showed congophilia with apple green birefringence on polarising microscopy. It was found to be KMN04 sensitive (AA type protein- secondary amyloidosis. Amyloid like deposits appeared as less homogeneous,, basophilic, fractured material which showed non-specific congophilia with apple- green birefringence and stained with acid orcein stain indicating degenerated collagen (elastoid-degeneration.

Epidemiology and clinico-investigative study of organisms causing vaginal discharge

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Venugopal, Swetha; Gopalan, Kannan; Devi, Asha; Kavitha, A.

2017-01-01

Background: Abnormal vaginal discharge is a common clinical problem in reproductive age group. It is the second most common problem after abnormal uterine bleeding. It is a neglected health problem, most commonly caused due to vulvovaginal candidiasis, trichomoniasis, and bacterial vaginosis (BV). Objectives: The present study was conducted to determine the prevalence of common organisms causing vaginal discharge and also to know the variety of clinical presentation. Materials and Methods: A cross-sectional descriptive study was conducted in the Skin and STD Outpatient Department of Vinayaka Mission Kirupananda Variyar Medical College Hospital, Salem, who presented with abnormal vaginal discharge between September 2012 and September 2014. A total of 100 women in the reproductive age group who had symptoms of vaginitis were examined. Data were coded and analyzed. Results: Out of the 100 patients examined, 77 (77%) cases were organism positive. Among the positive cases, BV (27%) was the most common microbiological cause of abnormal vaginal discharge, followed by trichomoniasis (25%), vaginal candidiasis (22%), combined infection (Candida and BV) (3%), and nonspecific cases (23%). Conclusion: Out of 100 cases, few cases showed discordance between clinical and laboratory diagnosis. This discordance can be due to pitfalls in identifying the causative agent clinically or obscuring of the findings due to improper treatment received for other ailments. Thus, clinico-investigative correlation is more important than other clinical findings alone. PMID:28442807

Endometriose intestinal simulando os achados clínicos e cirúrgicos da doença de Crohn

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Orivaldo Alves Barbosa

2017-04-01

Full Text Available Introdução: A endometriose é caracterizada pelo implante extrauterino de tecido endometrial funcionante. A faixa etária de acometimento é de 25 a 30 anos, estimando-se que esteja presente em 10 a 15% das mulheres em idade reprodutiva, raramente acometendo o trato gastrointestinal. Relato do caso: Descreve-se um caso de uma paciente com sintomas de dor abdominal e alteração do hábito intestinal que evoluiu com semioclusão intestinal. Os achados endoscópicos foram sugestivos de Doença Inflamatória Intestinal, obtendo-se o diagnóstico de endometriose após avaliação de segmento de delgado. Conclusão: Seguiu-se com uma breve revisão de literatura sobre endometriose intestinal, concluindo a importância deste diagnóstico diferencial de doença inflamatória, especialmente em mulheres na idade fértil.

Relationships between socio-clinico-demographic factors and global cognitive function in the oldest old living in the Tokyo Metropolitan area: Reanalysis of the Tokyo Oldest Old Survey on Total Health (TOOTH).

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Eguchi, Yoko; Tasato, Kumiko; Nakajima, Shinichiro; Noda, Yoshihiro; Tsugawa, Sakiko; Shinagawa, Shunichiro; Niimura, Hidehito; Hirose, Nobuyoshi; Arai, Yasumichi; Mimura, Masaru

2018-03-07

Despite a steady increase in life expectancy, a few studies have investigated cross-sectional correlates and longitudinal predictors of cognitive function, a core domain of the successful aging, among socio-clinico-demographic factors in the oldest-old exclusively. The aims of this study were to examine socio-clinico-demographic characteristics associated with global cognition and its changes in the oldest-old. We reanalyzed a dataset of cognitively preserved community-dwelling subjects aged 85 years and older in the Tokyo Oldest Old Survey on Total Health, a 6-year longitudinal observational study. This study consisted of (1) baseline cross-sectional analyses examining correlates of global cognition (n = 248) among socio-clinico-demographic factors and (2) longitudinal analyses examining baseline predictors for changes of global cognition in 3-year follow-up (n = 195). The Mini-Mental State Examination was used as a screening test to assess global cognition. At baseline, higher weights were related to higher cognitive function in the oldest-old. The baseline predictors of global cognitive decline in 3-year follow-up were higher global cognition, shorter education period, and lower sociocultural activities and lower instrumental activity of daily living, in this order. The present study suggests that it is crucial to attain higher education during early life and avoid leanness or obesity, participate in sociocultural cognitive activities during late life, and maintain instrumental activity of daily living to preserve optimal cognitive function in the oldest-old, which will facilitate developing prevention strategies for cognitive decline and promoting successful aging in this increasing population. Copyright © 2018 John Wiley & Sons, Ltd.

Acurácia dos achados ultrassonográficos do câncer de mama: correlação da classificação BI-RADS® e achados histológicos Accuracy of sonographic findings in breast cancer: correlation between BI-RADS® categories and histological findings

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José Hermes Ribas do Nascimento

2009-08-01

Full Text Available OBJETIVO: O objetivo geral do estudo é avaliar a acurácia da ultrassonografia (BI-RADS no diagnóstico do câncer de mama, e os objetivos específicos, descrever a frequência de apresentação dos diferentes achados ultrassonográficos e a avaliação da concordância entre observadores. MATERIAIS E MÉTODOS: Exames de 110 pacientes encaminhados para biópsia, com diagnóstico prévio de nódulos, foram reanalisados independentemente por dois médicos especialistas utilizando a nomenclatura do BI-RADS. Os achados histológicos foram utilizados como padrão-ouro. A acurácia dos achados foi determinada. As diferenças nos grupos de comparação foram analisadas com teste qui-quadrado para variáveis categóricas e a concordância entre os médicos foi calculada por meio da estatística kappa (κ. RESULTADOS: Cento e dez massas mamárias foram avaliadas pelo ultrassom, sendo que 76 (69% foram benignas e 34 (30,9%, malignas. Foram observados, entre os radiologistas, sensibilidade variando entre 70,5% e 82,3%, valor preditivo negativo entre 81,1% e 87,5%, valor preditivo positivo entre 42,1% e 45,1%, especificidade entre 56,58% e 55,2% e acurácia entre 60,9% e 63,6%. Na avaliação entre observadores foi obtida concordância global considerada moderada (κ= 0,50. CONCLUSÃO: O BI-RADS 4ª edição é um acurado sistema para auxiliar os médicos na descrição das lesões mamárias e na tomada de condutas.OBJECTIVE: The main purpose of the present study is to evaluate the accuracy of ultrasonography (BI-RADS in the diagnosis of breast cancer whereas the additional specific objectives are to describe the frequency of different sonographic findings and evaluating interobserver agreement. MATERIALS AND METHODS: Images of 110 patients who had been referred for biopsy with previous diagnosis of breast nodules were independently reviewed by two specialists according to the BI-RADS classification. Histological findings were utilized as a gold

Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

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Marschik, Peter B; Vollmann, Ralf; Bartl-Pokorny, Katrin D; Green, Vanessa A; van der Meer, Larah; Wolin, Thomas; Einspieler, Christa

2014-08-01

We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years. For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences. Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality. Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.

Microlitíase alveolar pulmonar: achados na tomografia computadorizada de alta resolução do tórax em 10 pacientes Pulmonary alveolar microlithiasis: high-resolution computed tomography findings in 10 patients

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Edson Marchiori

2007-10-01

Full Text Available OBJETIVO: Apresentar os achados na tomografia computadorizada de alta resolução (TCAR do tórax da microlitíase alveolar pulmonar. MÉTODOS: Foram estudadas, retrospectivamente, as tomografias de dez pacientes adultos, sete mulheres e três homens, com idade média de 38,7 anos. Os exames foram analisados por dois radiologistas, de forma independente, e as decisões finais foram obtidas por consenso. RESULTADOS: Os achados mais freqüentes foram as opacidades em vidro fosco e as calcificações subpleurais, ambas presentes em 90% dos pacientes estudados. Os outros achados de maior relevância foram pequenos nódulos parenquimatosos, calcificação ao longo dos septos interlobulares, cissuras nodulares, nódulos subpleurais, cistos subpleurais, consolidações densas e padrão de pavimentação em mosaico. CONCLUSÕES: A microlitíase alveolar pulmonar apresenta aspectos na TCAR que são altamente sugestivos da doença, na maior parte dos casos dispensando a realização de biópsias pulmonares.OBJECTIVE: To present the high-resolution computed tomography (HRCT findings of pulmonary alveolar microlithiasis. METHODS: The HRCT scans of 10 adult patients (seven females and three males; mean age, 38.7 years were retrospectively analyzed. The films were studied independently by two radiologists. RESULTS: The most common tomographic findings were ground-glass attenuation and linear subpleural calcifications, which were seen in 90% of the patients. Other relevant findings were small parenchymal nodules, calcification along the interlobular septa, nodular cissures, subpleural nodules, subpleural cysts, dense consolidations, and a mosaic pattern of attenuation. CONCLUSIONS: The HRCT findings presented by individuals with pulmonary alveolar microlithiasis are distinct. In most cases, such findings can form the basis of the diagnosis, eliminating the need to perform a lung biopsy.

Achados clínicos e patológicos em cães infectados naturalmente por herpesvírus canino

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Eduardo C. Oliveira

2009-08-01

Full Text Available Descrevem-se os achados clínicos e patológicos e os exames laboratoriais de filhotes de cães com diagnóstico post mortem de infecção por herpesvírus canino. Os casos ocorreram em duas propriedades da Cidade de Porto Alegre, Rio Grande do Sul, em abril de 2007 e julho de 2008. Clinicamente, os cães apresentaram anorexia, apatia, choro e dispneia. A morte dos cães ocorreu após 24-72 horas do início dos sinais clínicos. Na necropsia observaram-se hemorragia multifocal renal e hepatomegalia com petéquias e pontos brancos na superfície natural do fígado. Os pulmões se apresentaram não-colapsados e vermelhos. Havia esplenomegalia e, em alguns cães, petéquias na superfície capsular do baço. Aumento dos linfonodos mesentéricos e do timo foi observado. Lesões microscópicas incluíram hemorragia e necrose multifocal em células epiteliais tubulares renais, hepatócitos e tecidos linfoides. Nos pulmões, havia necrose alveolar multifocal acentuada com abundante material fibrinoso e infiltrado inflamatório misto de intensidade variada. Ocasionais corpúsculos de inclusão intranucleares em áreas periféricas à necrose foram identificados em hepatócitos, células epiteliais de túbulos renais e células alveolares. Amostras de fígado, rim e pulmão foram positivas na imunofluorescência direta para herpesvírus canino tipo 1 (CHV-1. O diagnóstico de infecção por herpesvírus foi baseado nos achados de necropsia, histológicos e de imunofluorescência positiva em tecidos usando anticorpo anti-CHV-1. De nosso conhecimento, este é o primeiro relato da identificação do CHV-1 no Brasil, embora achados clínico-patológicos anteriores já sugerissem a presença do agente na população canina do país.The clinic and pathological findings and laboratorial testing of puppies with postmortem diagnosis of canine herpesvirus infection are described. The cases occurred in two households of Porto Alegre, RS, in April 2007 and July 2008

Ten-year clinico-statistical study of oral squamous cell carcinoma

International Nuclear Information System (INIS)

Aoki, Shinjiro; Kawabe, Ryoichi; Chikumaru, Hiroshi; Saito, Tomokatsu; Hirota, Makoto; Miyake, Tetsumi; Omura, Susumu; Fujita, Kiyohide

2003-01-01

This clinico-statistical study includes 232 cases of oral squamous cell carcinoma that underwent radical treatment in the Department of Oral and Maxillofacial Surgery, Yokohama City University Hospital, during the decade from 1991 to 2000. Surgery was principally adopted as the first line for treatment in 199 cases, and radiotherapy in 33 cases. The 5-year overall survival rate was 73.4%. The results according to stage were as follows: stage I, 87.5%; Stage II, 77.9%; Stage III, 63.5%; and Stage IV A, 44.7%. The primary sites were classified as follows: upper gingiva, 85.2%; tongue, 73.7%; floor of mouth, 68.9%; lower gingiva, 66.3%; buccal mucosa, 63.9%; and hard palate, 50%. For tongue cancer, the 5-year overall survival rates by stage were: Stage I, 90.8%; Stage II, 82.1%; Stage III, 40.3%; and Stage IV A, 45.7%. Statistical significance was seen between cases of Stages I and II and those of Stages III and IV A stage. For lower gingival cancer, the 5-year overall survival rates by stage were: Stage I, 90.8%; Stage II, 82.1%; Stage III, 40.3%; and Stage IV A, 45.7%. Even in Stage I lower gingival cancers had unfavorable clinical outcomes. Preventive neck dissections were performed on 52 N 0 neck patients, but clinically negative nodes however showed metastasis in 14 patients (26.9%). (author)

Chordoma: review of clinico radiological features and factors affecting survival

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Soo, M.Y.S.

2001-01-01

This study reviews the clinico radiological features of cranial and sacrospinal chordomas and identifies factors affecting survival. Nineteen patients seen between January 1980 and December 2000 with histopathological diagnosis of chordomas were retrospectively reviewed with reference to clinical presentation, imaging features, treatment modalities and post-therapy status. Eight had tumours in the skull base while 11 patients had spinal and sacro-coccygeal lesions. Surgical resection was performed in 16 patients whose subsequent natural history was used to identify clinical indicators that may influence survival. Completeness of resection, age, gender and postoperative irradiation were subjected to analysis using the Cox proportional hazard models. Kaplan-Meir survival curves illustrate the survival distributions. Diplopia and facial pain are prime clinical presentations in cranial lesions, while extremity weakness and a sacrogluteal mass are common complaints in the sacrospinal group. Lesional calcifications are present in 40% while an osteolytic soft tissue mass is detectable by CT in all cases. Heterogeneous signals and internal septations on T 2 -weighted MRI are predominant features. In sacrospinal tumours, complete excision with adjuvant radiotherapy achieves the best results with a disease-free survival of more than 5 years. The clinical and imaging findings in this study are in accordance with those of other series. Except for complete surgical excision followed by radiotherapy in the subset of patients with sacrospinal tumours, none of the other clinical indicators show a statistical significant influence on survival. Copyright (2001) Blackwell Science Pty Ltd

Assessing cognitive functioning in females with Rett syndrome by eye-tracking methodology.

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Ahonniska-Assa, Jaana; Polack, Orli; Saraf, Einat; Wine, Judy; Silberg, Tamar; Nissenkorn, Andreea; Ben-Zeev, Bruria

2018-01-01

While many individuals with severe developmental impairments learn to communicate with augmentative and alternative communication (AAC) devices, a significant number of individuals show major difficulties in the effective use of AAC. Recent technological innovations, i.e., eye-tracking technology (ETT), aim to improve the transparency of communication and may also enable a more valid cognitive assessment. To investigate whether ETT in forced-choice tasks can enable children with very severe motor and speech impairments to respond consistently, allowing a more reliable evaluation of their language comprehension. Participants were 17 girls with Rett syndrome (M = 6:06 years). Their ability to respond by eye gaze was first practiced with computer games using ETT. Afterwards, their receptive vocabulary was assessed using the Peabody Picture Vocabulary Test-4 (PPVT-4). Target words were orally presented and participants responded by focusing their eyes on the preferred picture. Remarkable differences between the participants in receptive vocabulary were demonstrated using ETT. The verbal comprehension abilities of 32% of the participants ranged from low-average to mild cognitive impairment, and the other 68% of the participants showed moderate to severe impairment. Young age at the time of assessment was positively correlated with higher receptive vocabulary. The use of ETT seems to make the communicational signals of children with severe motor and communication impairments more easily understood. Early practice of ETT may improve the quality of communication and enable more reliable conclusions in learning and assessment sessions. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Clinico-allergological pattern of allergic contact dermatitis among 70 Indian children

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Sarma Nilendu

2010-01-01

Full Text Available Background: Rapid urbanization, westernization of lifestyles, poor quality of objects available and extremely relaxed vigilance on adherence to ′product safety guidelines′ make any developing country like India highly susceptible to allergic contact dermatitis (ACD even in children. There has been no previous attempts to assess the magnitude of childhood ACD in India. Aims: To assess the clinico-allergological profile of ACD in Indian children. Methods: All consecutive children up to 15 completed years of age who were patch tested over the last 3 years were analyzed from the records. Results: A total of 70 children were studied (average age of disease onset 8.39±3.59 years [SD], range 1-15 years and average age of presentation 10.8 ± 2.99 years [SD], range 5-15 years. Relevant allergy was noted in 48.6% of the patients. Age and sex had no significant role on the prevalence of ACD. Common allergens were paraben (43%, potassium dichromate (27% and fragrance mix (26%. Most relevant allergens were potassium dichromate, paraben and fragrance. Foot was the most commonly involved site (25.7% of patients. Atopy was present in 18 patients (25.7%. A total of 22 irritant reactions were noted in 13 patients. Conclusion: This study reflects the current status of childhood ACD of this region.

Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings.

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Mizukami, Keijiro; Shoubudani, Tomoaki; Nishimoto, Seira; Kawamura, Ryuta; Yabuki, Akira; Yamato, Osamu

2012-06-01

Trapped neutrophil syndrome (TNS) is an autosomal recessive inherited neutropenia known in Border Collies since the 1990's. Recently, the causative mutation has been identified in the canine VPS13B gene and a DNA-based diagnosis has now become available. The present paper describes clinical and clinico-pathologic findings in a Border Collie with TNS that was molecularly diagnosed for the first time in Japan. In a 10-week-old male Border Collie with microgenesis and symptoms related to recurrent infections, a hematological examination revealed severe leukopenia due to neutropenia, suggesting the dog to be affected by inherited neutropenic immunodeficiency. Direct DNA sequencing demonstrated that the dog was homozygous for the causative mutation of TNS and both its parents were heterozygous carriers. In addition, a simple and rapid polymerase chain reaction-based length polymorphism analysis coupled with microchip electrophoresis was developed for the genotyping of TNS. This assay could discriminate clearly all genotypes, suggesting that it was suitable for both individual diagnosis and large-scale surveys for prevention.

Ocular findings in Brazilian identical twins with Cohen syndrome: case report Achados oftalmológicos em gêmeos idênticos brasileiros com síndrome de Cohen: relato de caso

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Priscila Hae Hyun Rim

2009-12-01

Full Text Available A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal iris atrophy and retinochoroidal dystrophy. Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment.Relata-se caso de gêmeos idênticos com síndrome de Cohen que apresentam múltiplos achados oftalmológicos. Os pacientes eram gêmeos idênticos, do sexo masculino, que apresentavam pálpebras em forma de onda, ptose moderada, alta miopia, opacidades cristalinianas corticais discretas, catarata subcapsular posterior, pupilas mióticas e corectópicas com pobre dilatação devido à atrofia focal de íris, além de distrofia retinocoroidiana. Os oftalmologistas devem estar atentos quanto aos achados oftalmológicos e sistêmicos da síndrome de Cohen na avaliação de pacientes jovens com retardo mental e baixa visão.

Inflammatory protein response in CDKL5-Rett syndrome: evidence of a subclinical smouldering inflammation.

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Cortelazzo, Alessio; de Felice, Claudio; Leoncini, Silvia; Signorini, Cinzia; Guerranti, Roberto; Leoncini, Roberto; Armini, Alessandro; Bini, Luca; Ciccoli, Lucia; Hayek, Joussef

2017-03-01

Mutations in the cyclin-dependent kinase-like 5 gene cause a clinical variant of Rett syndrome (CDKL5-RTT). A role for the acute-phase response (APR) is emerging in typical RTT caused by methyl-CpG-binding protein 2 gene mutations (MECP2-RTT). No information is, to date, available on the inflammatory protein response in CDKL5-RTT. We evaluated, for the first time, the APR protein response in CDKL5-RTT. Protein patterns in albumin- and IgG-depleted plasma proteome from CDKL5-RTT patients were evaluated by two-dimensional gel electrophoresis/mass spectrometry. The resulting data were related to circulating cytokines and compared to healthy controls or MECP2-RTT patients. The effects of omega-3 polyunsaturated fatty acids (ω-3 PUFAs) were evaluated. CDKL5-RTT mutations resulted in a subclinical attenuated inflammation, specifically characterized by an overexpression of the complement component C3 and CD5 antigen-like, both strictly related to the inflammatory response. Cytokine dysregulation featuring a bulk increase of anti-inflammatory cytokines, predominantly IL-10, could explain the unchanged erythrocyte sedimentation rate and atypical features of inflammation in CDKL5-RTT. Omega-3 PUFAs were able to counterbalance the pro-inflammatory status. For the first time, we revealed a subclinical smouldering inflammation pattern in CDKL5-RTT consisting in the coexistence of an atypical APR coupled with a dysregulated cytokine response.

Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

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Cvelbar Mirjam

2017-05-01

Full Text Available In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.

Indicações e achados das colonoscopias nos doentes HIV-positivo: comparação com soronegativos Indications and results of colonoscopies in HIV-positive patients: comparison with seronegative patients

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Carmen Ruth Manzione

2007-03-01

Full Text Available Embora as indicações da colonoscopia sejam semelhantes em doentes HIV-positivo, quando comparados aos soronegativos, os achados e as suas incidências parecem diferir, sendo alguns deles mais específicos para o grupo dos imunodeprimidos. OBJETIVO: Avaliar as indicações e os achados das colonoscopias comparando os doentes soropositivos com os soronegativos para o HIV. Realizamos 1909 exames entre 1997 e 2005, sendo 1341 HIV-negativo (771 mulheres e 570 homens com média etária de 51,2 anos e 568 HIV-positivo (137 mulheres e 431 homens com 34,4 anos, em média. A análise estatística dos dados estudados revelou haver mais exames em homens no grupo HIV-positivo e em mulheres entre os soronegativos. O grupo mais jovem foi o dos soropositivos. Houve mais indicações devidas a enterorragia (22,1% e dor abdominal (12,7% nos pacientes soronegativos, e diarréia crônica (45,9% entre os soropositivos. As colites e os tumores foram os achados mais comuns em pacientes HIV-positivo e a moléstia diverticular e os pólipos, os mais freqüentes entre os soronegativos. O tumor predominante nos soronegativos foi o adenocarcinoma, enquanto que entre os soropositivos foi o sarcoma de Kaposi. CONCLUSÃO: A comparação entre os grupos demonstrou haver diferenças com relação ao sexo, idade e algumas indicações. Os achados foram semelhantes, embora com freqüências distintas.Although colonoscopy indications are similar in HIV-positive patients when compared to sero-negative persons, the findings and their incidences seem to be different, and some are more specific to immunosuppressed patients. The aim of this study is to evaluate indications and findings of colonoscopies comparing patients, sero-negatives and sero-positives to HIV. We performed 1909 colonoscopies from 1997 to 2005, 1341 in HIV-negative persons (771 females and 570 males with mean age of 51.2 years old and 568 in HIV-positive people (137 females and 431 males with mean age of 34.4 years

Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings

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Rômulo Lopes Gama

2007-06-01

Full Text Available Lipofuscinose ceróide neuronal (LCN constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de outros casos na família. Os achados de imagem podem contribuir no diagnóstico diferencial.The neuronal ceroid lipofuscinoses (NCL are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation - Fortaleza - Ceará - Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of

Correlação entre os achados estroboscópicos, perceptivo-auditivos e acústicos em adultos sem queixa vocal

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Corazza Vera Regina

2004-01-01

Full Text Available Os grandes avanços na compreensão da fisiologia vocal e o desenvolvimento científico e tecnológico na área de voz permitiram transpor o limite terapêutico através dos meios para a detecção precoce de alterações vocais. OBJETIVO: Avaliar indivíduos sem queixa vocal e correlacionar possíveis achados telelaringo-estroboscópicos, perceptivo-auditivos e acústicos. FORMA DE ESTUDO: Observacional coorte com corte transversal. CASUÍSTICA E MÉTODO: Foram avaliados 21 indivíduos do sexo masculino, com idade variando de 20 a 50 e mediana de 33 anos, sem queixas vocais, que não faziam uso de tabaco nem de destilados. Os sujeitos foram submetidos às avaliações telelaringo-estroboscópica, perceptivo-auditiva e acústica da voz. RESULTADOS: Do total de sujeitos avaliados, 57,15% apresentaram alteração em uma ou mais das avaliações realizadas. À telelaringo-estroboscopia, observou-se fenda vocal triangular posterior em 4 sujeitos. Dez apresentaram alteração na análise perceptivo-auditiva, observando-se os seguintes parâmetros: instabilidade, rouquidão e soprosidade, todos em grau discreto. Na avaliação da ressonância, três apresentaram cada foco hipernasal, cul de sac e laringo-faríngea. A avaliação acústica apresentou as seguintes médias: f0 - 125,69 Hz; jitter - 0,22%; shimmer - 3,06%; NNE -12,29 dB; HNR - 20,75 dB; freqüência do tremor - 2,09 Hz; amplitude do tremor - 1,16 Hz. Alguns sujeitos apresentaram valores de shimmer% e freqüência do tremor maiores do que a média. CONCLUSÃO: Foram detectadas alterações em 57,15% das avaliações realizadas em indivíduos sem queixas vocais. Esses achados podem ser indicativos de uma variação da normalidade ou representar uma predisposição a alterações glóticas e vocais que, com o passar do tempo, podem desenvolver-se. Em todas as avaliações alteradas houve alteração de parâmetro acústico.

Clinico-hemato-biochemical profile of dogs with liver cirrhosis

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M. A. Elhiblu

2015-04-01

Full Text Available Aim: The aim of this study was to determine the relevant tools in the diagnosis of liver cirrhosis in dogs. Material and Methods: A total of 140 dogs presented at Veterinary Teaching Hospital, Guru Angad Dev Veterinary and Animal Sciences University, Ludhiana, showing clinical signs of hepatic insufficiency were subjected to clinico-hemato biochemical, urological, ultrasonographic (USG, and USG guided fine-needle biopsy examinations by standard methods. On the basis of these results, 6 dogs out of 140 dogs were found to be suffering from liver cirrhosis. Six clinically healthy dogs constituted the control group. Results: The dogs suffering from liver cirrhosis manifested inappetence, halitosis, abdominal distension, weight loss, melena, icterus, anemia, and neutrophilic leukocytosis with the left shift. Levels of hemoglobin, lymphocytes, packed cell volume, mean corpuscular volume, mean corpuscular Hb (MCH, and platelet count were significantly lower in liver cirrhosis group than control group while total leukocyte count, neutrophils, and MCH concentration were significantly higher. Glucose, total protein, albumin, A/G ratio, and fibrinogen were significantly lower, and creatinine, alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, prothrombin time, and APTT were significantly higher than the control values. Ultrasound revealed diffuse increase in echogenicity with rounded and irregular liver margins. Cytological examination of the ascitic fluid and fine-needle aspiration biopsy of liver was not fruitful in the diagnosis of liver cirrhosis. Conclusions: Liver cirrhosis causes clinical and hemo-biochemical alterations, which require special consideration when treating diseased animals. USG, diffuse increase in echogenicity of liver, rounding and irregularity of liver margins and microhepatica were the consistent findings. It is suggested that USG along with hemo-biochemical alterations may be used as a diagnostic tool for

Simulators of Squamous Cell Carcinoma of the Skin: Diagnostic Challenges on Small Biopsies and Clinico pathological Correlation

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Tan, K. B.; Tan, S. H.; Lee, Y. S.; Wee Aw, D. C.; Jaffar, H.; Lim, T. C.; Lee, S. J.

2013-01-01

Squamous cell carcinoma (SCC) is a common and important primary cutaneous malignancy. On skin biopsies, SCC is characterized by significant squamous cell atypia, abnormal keratinisation, and invasive features. Diagnostic challenges may occasionally arise, especially in the setting of small punch biopsies or superficial shave biopsies, where only part of the lesion may be assessable by the pathologist. Benign mimics of SCC include pseudoepitheliomatous hyperplasia, eccrine squamous syringometaplasia, inverted follicular keratosis, and keratoacanthoma, while malignant mimics of SCC include basal cell carcinoma, melanoma, and metastatic carcinoma. The careful application of time-honored diagnostic criteria, close clinico pathological correlation and a selective request for a further, deeper, or wider biopsy remain the most useful strategies to clinch the correct diagnosis. This review aims to present the key differential diagnoses of SCC, to discuss common diagnostic pitfalls, and to recommend ways to deal with diagnostically challenging cases

[Clinico-epidemiological characteristics of HIV-positive immigrants: study of 371 cases].

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Llenas-García, Jara; Rubio, Rafael; Hernando, Asunción; Fiorante, Silvana; Maseda, Diego; Matarranz, Mariano; Costa, José Ramón; Alonso, Beatriz; Pulido, Federico

2012-10-01

The number of HIV-positive immigrants have increased in Spain in the last few years, and now represent a significant proportion of the epidemic. Our objective is to describe the clinico-epidemiological characteristics of HIV-positive immigrants seen in a specialist unit in Madrid. Retrospective study. Every patient born in a country other than Spain and attended an HIV Unit in Madrid between 1992 and 2009 was included. Of the 371 patients included, 53.1% were Latin Americans, 24.5% Sub-Saharan Africans, and 22.4% others), and 60% were males. Immigrants represented 0.3% of new patients in 1992 and rose to 49.2% in 2009. The principal reason for HIV testing had been pregnancy/delivery among women (32.7%) and having a category-B disease among men (17.4%). Sexual transmission accounted for 92% of patients. Tuberculosis was the principal AIDS-diagnosing illness. Respectively 90%, 7.7%, 60%, 26.7%, 96% and 95% of patients had an IgG for HAV, HCV, Toxoplasma, Treponema, CMV and VZV. VHB-Ags+: 5.4%; PPD+: 17%. At least one syphilis episode was recorded in 62% of the men who have sex with men (MSM). Prevalence of HLA-B5701 was 6%, 0.9% and 3.8% in Caucasians, Amerindians and Afro-Americans, respectively. Immigrants represent a significant proportion of new HIV-positive patients. It is a very heterogeneous group according to their clinical and epidemiological characteristics. Copyright © 2011 Elsevier España, S.L. All rights reserved.

[Clinico-pathological features of papillary thyroid cancer coexistent with Hashimoto's thyroiditis].

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Molnár, Sarolta; Győry, Ferenc; Nagy, Endre; Méhes, Gábor; Molnár, Csaba

2017-02-01

Former studies suggest the frequent coexistence of Hashimoto's thyreoditis with papillary thyroid cancer, frequently featured by multifocal carcinogenesis but lower clinical stages compared to thyroid cancers lacking thyroiditis. We examined the clinico-pathological correlations between Hashimoto's thyroditis and papillary thyroid cancer in our region in the North-Eastern part of Hungary. We included a total of 230 patients with papillary thyroid cancer who underwent thyroid surgery at the Surgical Department of the University of Debrecen. Patients' sex, age, multifocality of thyroid cancer and clinical stage were evaluated. Cases included 40 patients (17.4%) with (4 male, 36 female) and 190 (82.6%) patients without HT (44 male, 146 female). Hashimoto's thyroiditis related thyroid cancer was almost exclusively associated with the papillary histological type. Multifocality of papillary cancer was significantly more frequent with coexisting Hashimoto's thyroiditis (16/40; 40.0%) compared to cases uninvolved (45/190; 23.7%; p = 0.034). In contrast, lymph node metastasis was significantly less frequent among patients with Hashimoto's thyroiditis (4 pN1 [36.4%]; 7 pN0 [63.6%]) then without it (34 pN1 [82.9%]; 7 pN0 [17.1%]; p = 0.002). Higher frequency and multifocality of papillary thyroid cancer might be the consequence of preexisting Hashimoto's thyroiditis to be considered as a preneoplastic stimulus supporting carcinogenesis, though the exact pathomechanism of this correlation is not clear yet. Orv. Hetil., 2017, 158(5), 178-182.

Gastritis OLGA-staging and gastric cancer risk: a twelve-year clinico-pathological follow-up study.

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Rugge, M; de Boni, M; Pennelli, G; de Bona, M; Giacomelli, L; Fassan, M; Basso, D; Plebani, M; Graham, D Y

2010-05-01

Intestinal-type gastric cancer (GC) still ranks among the high-incidence, highly lethal malignancies. Atrophic gastritis is the cancerization field in which GC develops. The current histological reporting formats for gastritis do not include any (atrophy-based) ranking of GC risk. To test the gastritis OLGA-staging (Operative Link for Gastritis Assessment) in prognosticating neoplastic progression. Ninety-three Italian patients were followed up for more than 12 years (range: 144-204 months). Clinical examinations, pepsinogen serology, endoscopy and histology (also assessing Helicobacter pylori status) were performed both at enrolment (T1) and at the end of the follow-up (T2). All invasive or intra-epithelial gastric neoplasia were consistently associated with high-risk (III/IV) OLGA stages. There was a significant inverse correlation between the mean pepsinogen ratio and the OLGA stage (test for trend; P gastritis OLGA-staging conveys relevant information on the clinico-pathological outcome of gastritis and therefore for patient management. According to OLGA-staging and H. pylori-status, gastritis patients could be confidently stratified and managed according to their different cancer risks.

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

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Tokaji, Narumi; Ito, Hiromichi; Kohmoto, Tomohiro; Naruto, Takuya; Takahashi, Rizu; Goji, Aya; Mori, Tatsuo; Toda, Yoshihiro; Saito, Masako; Tange, Shoichiro; Masuda, Kiyoshi; Kagami, Shoji; Imoto, Issei

2018-03-01

Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5-bp duplication in the open-reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype. © 2018 Wiley Periodicals, Inc.

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model [version 1; referees: 2 approved

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Sampathkumar Rangasamy

2016-09-01

Full Text Available Rett syndrome (RTT is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene, encoding methyl-CpG-binding protein 2. We have created a mouse model (Mecp2 A140V “knock-in” mutant expressing the recurrent human MECP2 A140V mutation linked to an X-linked mental retardation/Rett syndrome phenotype. Morphological analyses focused on quantifying soma and nucleus size were performed on primary hippocampus and cerebellum granule neuron (CGN cultures from mutant (Mecp2A140V/y and wild type (Mecp2+/y male mice. Cultured hippocampus and cerebellar granule neurons from mutant animals were significantly smaller than neurons from wild type animals. We also examined soma size in hippocampus neurons from individual female transgenic mice that express both a mutant  (maternal allele and a wild type Mecp2 gene linked to an eGFP transgene (paternal allele. In cultures from such doubly heterozygous female mice, the size of neurons expressing the mutant (A140V allele also showed a significant reduction compared to neurons expressing wild type MeCP2, supporting a cell-autonomous role for MeCP2 in neuronal development. IGF-1 (insulin growth factor-1 treatment of neuronal cells from Mecp2 mutant mice rescued the soma size phenotype. We also found that Mecp2  mutation leads to down-regulation of the mTOR signaling pathway, known to be involved in neuronal size regulation. Our results suggest that i reduced neuronal size is an important in vitro cellular phenotype of Mecp2 mutation in mice, and ii MeCP2 might play a critical role in the maintenance of neuronal structure by modulation of the mTOR pathway. The definition of a quantifiable cellular phenotype supports using neuronal size as a biomarker in the development of a high-throughput, in vitro assay to screen for compounds that rescue small neuronal phenotype (“phenotypic assay”.

Achado incidental de glândula sebácea em colo uterino: provavelmente um processo metaplásico An incidental finding of sebaceous glands in the uterine cervix: a probable metaplastic process

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Daniel Cury Ogata

2012-06-01

Full Text Available As glândulas sebáceas ectópicas são achados muito infrequentes no trato genital feminino. Descrevemos um caso que ocorreu em paciente de 42 anos de idade, submetida à histerectomia total, devido à leiomiomatose e ao prolapso uterino.The ectopic sebaceous glands have been extremely rare findings in female genital system. We describe the case of 42 years-old patient with total hysterectomy due to leiomyomatosis and uterine prolapsed.

Cytokines profile and peripheral blood mononuclear cells morphology in Rett and autistic patients.

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Pecorelli, Alessandra; Cervellati, Franco; Belmonte, Giuseppe; Montagner, Giulia; Waldon, PhiAnh; Hayek, Joussef; Gambari, Roberto; Valacchi, Giuseppe

2016-01-01

A potential role for immune dysfunction in autism spectrum disorders (ASD) has been well established. However, immunological features of Rett syndrome (RTT), a genetic neurodevelopmental disorder closely related to autism, have not been well addressed yet. By using multiplex Luminex technology, a panel of 27 cytokines and chemokines was evaluated in serum from 10 RTT patients with confirmed diagnosis of MECP2 mutation (typical RTT), 12 children affected by classic autistic disorder and 8 control subjects. The cytokine/chemokine gene expression was assessed by real time PCR on mRNA of isolated peripheral blood mononuclear cells (PBMCs). Moreover, ultrastructural analysis of PBMCs was performed using transmission electron microscopy (TEM). Significantly higher serum levels of interleukin-8 (IL-8), IL-9, IL-13 were detected in RTT compared to control subjects, and IL-15 shows a trend toward the upregulation in RTT. In addition, IL-1β and VEGF were the only down-regulated cytokines in autistic patients with respect to RTT. No difference in cytokine/chemokine profile between autistic and control groups was detected. These data were also confirmed by ELISA real time PCR. At the ultrastructural level, the most severe morphological abnormalities were observed in mitochondria of both RTT and autistic PBMCs. In conclusion, our study shows a deregulated cytokine/chemokine profile together with morphologically altered immune cells in RTT. Such abnormalities were not quite as evident in autistic subjects. These findings indicate a possible role of immune dysfunction in RTT making the clinical features of this pathology related also to the immunology aspects, suggesting, therefore, novel possible therapeutic interventions for this disorder. Copyright © 2015 Elsevier Ltd. All rights reserved.

Achados histológicos e sobrevida na fibrose pulmonar idiopática Histological features and survival in idiopathic pulmonary fibrosis

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Ester Nei Aparecida Martins Coletta

2003-12-01

Full Text Available INTRODUÇÃO: A fibrose pulmonar idiopática foi recentemente redefinida como pneumonia intersticial usual de etiologia desconhecida. O valor prognóstico dos achados histológicos deve ser reavaliado. OBJETIVO: Neste estudo foram correlacionados os achados histológicos e alguns dados clínicos e funcionais (duração dos sintomas, capacidade vital forçada, idade, sexo, hábito de fumar com a sobrevida. MÉTODO: Foram estudados 51 pacientes portadores de fibrose pulmonar idiopática. A média de idade foi de 66 ± 8 anos. Vinte e um pacientes eram do sexo feminino; 26 eram fumantes ou ex-fumantes. Todos apresentavam quadro de pneumonia intersticial usual na histologia. Grau de faveolamento, fibrose estabelecida, descamação, celularidade, espessamento vascular miointimal e focos fibroblásticos foram graduados por método semiquantitativo. RESULTADOS: A mediana do tempo de sintomas foi de 12 meses e a capacidade vital forçada inicial foi de 72 ± 21%. Por análise de risco proporcional de Cox, a sobrevida correlacionou-se, de maneira significativa (p BACKGROUND: Idiopathic pulmonary fibrosis was recently redefined as usual interstitial pneumonia of unknown etiology. Consequently, the prognostic value of histological findings needs to be reassessed. OBJECTIVE: To correlate clinical, functional and histological findings with survival in patients with idiopathic pulmonary fibrosis. METHOD: Patients (n = 51; mean age: 66 ± 8 years; gender: 21 females/30 males were evaluated. Of the 51, 26 were smokers or ex-smokers. Duration of symptoms, forced vital capacity and smoking habits were recorded. All patients presented usual interstitial pneumonia verified through histology. Degree of honeycombing, established fibrosis, desquamation, cellularity, myointimal thickening of blood vessels and number of fibroblastic foci were graded according to the semiquantitative method. RESULTS: Median duration of symptoms was 12 months and initial forced vital

Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis Achados clínicos, citogenéticos e de neuroimagem em 20 pacientes com disgenesia do corpo caloso

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Anna Cláudia Evangelista dos Santos

2002-06-01

Full Text Available Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies were the most prominent findings. There were three cases of chromosomal anomalies, all of them representing trisomy of chromosome 8.Vinte pacientes com disgenesia do corpo caloso foram avaliados através de um protocolo padronizado. Retardo neuropsicomotor, convulsões e dismorfias faciais foram os achados mais proeminentes. Três casos de anomalia cromossômica foram observados, todos representados por trissomia do cromossomo 8.

Clinico-pathological studies on the effects of preoperative hyperthermo-chemo-radiotherapy for advanced esophageal carcinoma

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Nakamura, Tsutomu; Ide, Hiroko; Eguchi, Reiki (Tokyo Women' s Medical Coll. (Japan)) (and others)

1991-12-01

We report clinico-pathological studies on the effect of preoperative hyperthermia and chemotherapy combined with radiotherapy (HCR) for progress of the local curability of advanced esophageal carcinoma. The subjects of these studies were 17 patients who underwent subtotal esophagectomy after preoperative irradiation of 40 Gy from 1980 to 1989, of which 8 patients had HCR, 6 patients irradiation only (R), 3 patients both irradiation and chemotherapy (CR). The clinical response rate of the patients with R or CR was 33% (PR 3, MR 3, NC 3), and the histological effective (Ef{sub 3} or Ef{sub 2}) rate was 56% (Ef{sub 3} 1, Ef{sub 2} 4, Ef{sub 1} 4). The clinical response rate of the patients with HCR was 88% (PR 7, MR 1), and the histological effective rate was 100% (Ef{sub 3} 1, Ef{sub 2} 7). HCR was more effective than R or CR for the local lesion of esophageal carcinoma histopathologically (p<0.05). However, the survival rate of patients with HCR was similar to R and CR, respectively. These results suggest that further improvement of the heating methods and the methods of combining hyperthermia with irradiation and chemotherapy is needed. (author).

Clinico-pathological studies on the effects of preoperative hyperthermo-chemo-radiotherapy for advanced esophageal carcinoma

International Nuclear Information System (INIS)

Nakamura, Tsutomu; Ide, Hiroko; Eguchi, Reiki

1991-01-01

We report clinico-pathological studies on the effect of preoperative hyperthermia and chemotherapy combined with radiotherapy (HCR) for progress of the local curability of advanced esophageal carcinoma. The subjects of these studies were 17 patients who underwent subtotal esophagectomy after preoperative irradiation of 40 Gy from 1980 to 1989, of which 8 patients had HCR, 6 patients irradiation only (R), 3 patients both irradiation and chemotherapy (CR). The clinical response rate of the patients with R or CR was 33% (PR 3, MR 3, NC 3), and the histological effective (Ef 3 or Ef 2 ) rate was 56% (Ef 3 1, Ef 2 4, Ef 1 4). The clinical response rate of the patients with HCR was 88% (PR 7, MR 1), and the histological effective rate was 100% (Ef 3 1, Ef 2 7). HCR was more effective than R or CR for the local lesion of esophageal carcinoma histopathologically (p<0.05). However, the survival rate of patients with HCR was similar to R and CR, respectively. These results suggest that further improvement of the heating methods and the methods of combining hyperthermia with irradiation and chemotherapy is needed. (author)

Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2

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Tugba G. Kucukkal

2015-01-01

Full Text Available Rett Syndrome (RTT is a progressive neurodevelopmental disease affecting females. RTT is caused by mutations in the MECP2 gene and various amino acid substitutions have been identified clinically in different domains of the multifunctional MeCP2 protein encoded by this gene. The R133C variant in the methylated-CpG-binding domain (MBD of MeCP2 is the second most common disease-causing mutation in the MBD. Comparative molecular dynamics simulations of R133C mutant and wild-type MBD have been performed to understand the impact of the mutation on structure, dynamics, and interactions of the protein and subsequently understand the disease mechanism. Two salt bridges within the protein and two critical hydrogen bonds between the protein and DNA are lost upon the R133C mutation. The mutation was found to weaken the interaction with DNA and also cause loss of helicity within the 141-144 region. The structural, dynamical, and energetical consequences of R133C mutation were investigated in detail at the atomic resolution. Several important implications of this have been shown regarding protein stability and hydration dynamics as well as its interaction with DNA. The results are in agreement with previous experimental studies and further provide atomic level understanding of the molecular origin of RTT associated with R133C variant.

Loss of Maspin Expression in Bladder Cancer: Its Relationship with p53 and Clinico pathological Parameters

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Abd El-Maqsoud, N.M.R.; Tawfiek, E.R.

2010-01-01

Maspin (mammary serine protease inhibitor) is a member of the serpin super family of protease inhibitors and is known to have tumor-suppressor function in breast and prostate cancers, acting at the level of tumor invasion and metastasis. However, there have been no published data regarding the role of Maspin in squamous cell carcinoma (SCC) and transitional cell carcinoma (TCC) of urinary bladder. Patients and Methods: We have evaluated the immunohistochemical expression of Maspin and p53 in a series of 134 bladder cancer patients (56 SCC and 78 TCC) and the interrelationship between Clinico pathological features and Maspin and p53 expression. Results: There was positive Maspin expression in 53.7% in all cases. In TCC, expression was found in 48/78 cases (61.5%). High Maspin expression was found in low grade (p<0.001) and advanced stage (p=0.02). In SCC, expression was found in 24/56 (42.8%). There was a statistically significant association between lost Maspin expression and grading (p=0.001). No correlation was found between Maspin expression and other Clinico pathological parameters including gender, clinical stage and Bilharzial infestation. These results indicated that Maspin expression might predict a better prognosis for bladder carcinoma. Also Maspin probably could play a role in tumor progression. p53 was positive in 70 cases (52.2%) of all patients evaluated. In TCC, it was positive in 36/78 cases (46.1%) and correlated with high grade (p=0.01) and advanced stage (p=0.01). In SCC, it was positive in 34/56 cases (60.7%). There was a statistically significant association between p53 expression and high grade (p=0.01) and advanced stage (p=0.01). There was an inverse correlation between the Maspin and p53 expression in TCC and SCC of bladder cancer. We found no significant association between both Maspin and p53 expression and bilharziasis in TCC and SCC; this indicated that Maspin and p53 expression could be prognostic factors in both bilharzial and non

Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report.

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Santosh, P J; Bell, L; Lievesley, K; Singh, J; Fiori, F

2016-11-29

Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT. The prototypical beta blocker propranolol has been used to manage sympathetic hyperactivity in patients with RTT. A 13 year old girl with RTT was referred to the Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust. Her clinical picture included disordered breathing with concomitant hyperventilation and apnoea, epilepsy, scoliosis, no QT prolongation (QT/QTc [372/467 ms on automated electrocardiogram [ECG], but manually calculated to be 440 ms]), no cardiac abnormalities (PR interval: 104 ms, QRS duration: 78 ms), and generalised anxiety disorder (ICD-10-CM Diagnosis Code F41.1). She was also constipated and was fed via percutaneous endoscopic gastrostomy (PEG). To manage the dysautonomia, propranolol was given (5 mg and 10 mg) and in parallel her physiological parameters, including heart rate, skin temperature and skin transpiration, were monitored continuously for 24 h as she went about her activities of daily living. Whilst her skin temperature increased and skin transpiration decreased, unexpectedly there was a significant paradoxical increase in the patient's average heart rate following propranolol treatment. Here, we present a unique case of a paradoxical increase in heart rate response following propranolol treatment for managing dysautonomia in a child with RTT. Further studies are warranted to better understand the underlying dysautonomia in patients with RTT and

Achados tomográficos em 1000 pacientes consecutivos com antecedentes de crises epilépticas

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Trentin Ana Paula

2002-01-01

Full Text Available Analizamos retrospectivamente as tomografias computadorizadas (TC de crânio de 1000 pacientes consecutivos, com história clínica de crises epilépticas classificadas do ponto de vista clínico em generalizadas (CG e parciais (CP. Nossos resultados mostraram a presença de CG em 70,7% dos pacientes, sendo 57,1% do sexo masculino e 42,9% do sexo feminino e, CP em 29,3%, sendo 60,0% do sexo maculino e 40,0% do sexo femninino. As faixas etárias de maior incidência foram entre 0 a 10 (31,0% e 11 a 20 (21,8% anos nos pacientes com CG e 0 a 10 (24,5%, 21 a 30 (16,7% e 31 a 40 anos (18,4% nos pacientes com CP. Os resultados tomográficos no grupo com CG foram: normais (48,8% e alterados em 51,2%, sendo esses achados definidos como calcificações/cisticercose (14,0%, neurocisticercose/cistos (9,6% hidrocefalia (4,4%, infarto (4,2%, indefinido (4,0%, tumor (2,5% entre outros (12,5,%. Nos pacientes com CP os exames tomográficos foram normais em 37,4%, alterados em 62,7%, tendo os diagnósticos de neurocisticercose/cistos (12,2%, calcificações/cisticercose (11,2%, tumor (10,5%, indefinido (8,1%, infarto (5,4%, hidrocefalia (3,7% e outros (11,6%. Salientamos a importância da TC em pacientes com epilepsia, particularmente para o diagnóstico de neurocisticercose.

Computerized tomography findings in Fahr's syndrome Achados da tomografia computadorizada na síndrome de Fahr

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Andréia V. Faria

2004-09-01

Full Text Available We analyzed computerized tomography (CT findings in six patients with Fahr's syndrome. They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. The image pattern was not strictly related with etiology, although some differences in dystrophic senile calcifications (the only one present in semioval center and absent in subcortical region. CT is an easy exam, has maximum sensitivity and allows diagnosis, contributing to early treatment of many etiologies of Fahr's syndrome.Analisamos os achados de tomografia computadorizada (TC de seis pacientes com síndrome de Fahr. Eles apresentaram calcificações nos gânglios da base, núcleo denteado, região subcortical e centro semi-oval, devidas a distúrbios no metabolismo do cálcio ou a estado de hipóxia relativa, por senilidade. O padrão de imagem não apresenta relação clara com a etiologia, apesar de algumas diferenças no caso das calcificações distróficas senis (as únicas presentes nos centros semi-ovais e ausentes na região subcortical. TC é um exame de fácil realização, máxima sensibilidade e permite o diagnóstico, contribuindo para o tratamento precoce de muitas das etiologias da síndrome de Fahr.

Beta-actin deficiency with oxidative posttranslational modifications in Rett syndrome erythrocytes: insights into an altered cytoskeletal organization.

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Alessio Cortelazzo

Full Text Available Beta-actin, a critical player in cellular functions ranging from cell motility and the maintenance of cell shape to transcription regulation, was evaluated in the erythrocyte membranes from patients with typical Rett syndrome (RTT and methyl CpG binding protein 2 (MECP2 gene mutations. RTT, affecting almost exclusively females with an average frequency of 1∶10,000 female live births, is considered the second commonest cause of severe cognitive impairment in the female gender. Evaluation of beta-actin was carried out in a comparative cohort study on red blood cells (RBCs, drawn from healthy control subjects and RTT patients using mass spectrometry-based quantitative analysis. We observed a decreased expression of the beta-actin isoforms (relative fold changes for spots 1, 2 and 3: -1.82±0.15, -2.15±0.06, and -2.59±0.48, respectively in pathological RBCs. The results were validated by western blotting and immunofluorescence microscopy. In addition, beta-actin from RTT patients also showed a dramatic increase in oxidative posttranslational modifications (PTMs as the result of its binding with the lipid peroxidation product 4-hydroxy-2-nonenal (4-HNE. Our findings demonstrate, for the first time, a beta-actin down-regulation and oxidative PTMs for RBCs of RTT patients, thus indicating an altered cytoskeletal organization.

Real-World Evidence In Support Of Precision Medicine: Clinico-Genomic Cancer Data As A Case Study.

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Agarwala, Vineeta; Khozin, Sean; Singal, Gaurav; O'Connell, Claire; Kuk, Deborah; Li, Gerald; Gossai, Anala; Miller, Vincent; Abernethy, Amy P

2018-05-01

The majority of US adult cancer patients today are diagnosed and treated outside the context of any clinical trial (that is, in the real world). Although these patients are not part of a research study, their clinical data are still recorded. Indeed, data captured in electronic health records form an ever-growing, rich digital repository of longitudinal patient experiences, treatments, and outcomes. Likewise, genomic data from tumor molecular profiling are increasingly guiding oncology care. Linking real-world clinical and genomic data, as well as information from other co-occurring data sets, could create study populations that provide generalizable evidence for precision medicine interventions. However, the infrastructure required to link, ensure quality, and rapidly learn from such composite data is complex. We outline the challenges and describe a novel approach to building a real-world clinico-genomic database of patients with cancer. This work represents a case study in how data collected during routine patient care can inform precision medicine efforts for the population at large. We suggest that health policies can promote innovation by defining appropriate uses of real-world evidence, establishing data standards, and incentivizing data sharing.

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling.

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Chen, Qian; Zhu, Yong-Chuan; Yu, Jing; Miao, Sheng; Zheng, Jing; Xu, Li; Zhou, Yang; Li, Dan; Zhang, Chi; Tao, Jiong; Xiong, Zhi-Qi

2010-09-22

Mutations in cyclin-dependent kinase-like 5 (CDKL5), also known as serine/threonine kinase 9 (STK9), have been identified in patients with Rett syndrome (RTT) and X-linked infantile spasm. However, the function of CDKL5 in the brain remains unknown. Here, we report that CDKL5 is a critical regulator of neuronal morphogenesis. We identified a neuron-specific splicing variant of CDKL5 whose expression was markedly induced during postnatal development of the rat brain. Downregulating CDKL5 by RNA interference (RNAi) in cultured cortical neurons inhibited neurite growth and dendritic arborization, whereas overexpressing CDKL5 had opposite effects. Furthermore, knocking down CDKL5 in the rat brain by in utero electroporation resulted in delayed neuronal migration, and severely impaired dendritic arborization. In contrast to its proposed function in the nucleus, we found that CDKL5 regulated dendrite development through a cytoplasmic mechanism. In fibroblasts and in neurons, CDKL5 colocalized and formed a protein complex with Rac1, a critical regulator of actin remodeling and neuronal morphogenesis. Overexpression of Rac1 prevented the inhibition of dendrite growth caused by CDKL5 knockdown, and the growth-promoting effect of ectopically expressed CDKL5 on dendrites was abolished by coexpressing a dominant-negative form of Rac1. Moreover, CDKL5 was required for brain-derived neurotrophic factor (BDNF)-induced activation of Rac1. Together, these results demonstrate a critical role of CDKL5 in neuronal morphogenesis and identify a Rho GTPase signaling pathway which may contribute to CDKL5-related disorders.

The Utility of Next Generation Sequencing in Gene Discovery for Mutation-negative Patients with Rett Syndrome

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Wendy Anne Gold

2015-07-01

Full Text Available Rett syndrome (RTT is a rare, severe disorder of neuronal plasticity that predominantly affects girls. Girls with RTT usually appear asymptomatic in the first 6-18 months of life, but gradually develop severe motor, cognitive and behavioural abnormalities that persist for life. A predominance of neuronal and synaptic dysfunction, with altered excitatory-inhibitory neuronal synaptic transmission and synaptic plasticity are overarching features of RTT in children and in mouse models. Approximately 95% of patients with classical RTT have mutations in the X-linked methyl-CpG-binding (MECP2 gene, whilst other genes, including cyclin-dependent kinase-like 5 (CDKL5, Forkhead box protein G1 (FOXG1, Myocyte-specific enhancer factor 2C (MEF2C and Transcription factor 4 (TCF4, have been associated with phenotypes overlapping with RTT. However, there remain a proportion of patients who carry a clinical diagnosis of RTT, but who are mutation negative. In recent years, next-generation sequencing (NGS technologies have revolutionized approaches to genetic studies, making whole-exome and even whole-genome sequencing possible strategies for the detection of rare and de novo mutations, aiding the discovery of novel disease genes. Here, we review the recent progress that is emerging in identifying pathogenic variations, specifically from exome sequencing in RTT patients, and emphasize the need for the use of this technology to identify known and new disease genes in RTT patients.

Management of Rett Syndrome in the Controlled Multisensory (Snoezelen Environment. A Review with Three Case Stories

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Meir Lotan

2006-01-01

Full Text Available Rett syndrome (RS is a neurological disorder resulting from an X-linked dominant mutation. It is characterized by a variety of physical and perceptual disabilities, resulting in a need for continuous intervention programs to be administered on a regular basis throughout life. Many of these individuals with RS show fear of movement and, therefore, find it hard to accept external facilitation (so common in physical therapy intervention. In a search for novel intervention techniques that might improve their ability to cope with difficulties in daily situations, while also reducing their difficulty in handling motion inflicted by an external physical facilitator, we examined the use of the Snoezelen room. The Snoezelen, also known as the controlled multisensory environment, can provide a soothing atmosphere that appeals to the individual with RS, while at the same time it can improve physical, sensorial, and functional abilities. This article suggests various intervention goals that are appropriate for individuals with RS at different stages of the disorder. Since the management of young children with RS in the multisensory environment has been discussed at length in the past, this article will mainly describe intervention with adults with RS, focusing on three case stories. The present article reviews the available scientific materials on the topic of Snoezelen, incorporating clinical knowledge in the field of RS and suggesting this approach as an appropriate intervention method for this population.

miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome Phenotypes

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Keita Tsujimura

2015-09-01

Full Text Available Rett syndrome (RTT is a neurodevelopmental disorder caused by MECP2 mutations. Although emerging evidence suggests that MeCP2 deficiency is associated with dysregulation of mechanistic target of rapamycin (mTOR, which functions as a hub for various signaling pathways, the mechanism underlying this association and the molecular pathophysiology of RTT remain elusive. We show here that MeCP2 promotes the posttranscriptional processing of particular microRNAs (miRNAs as a component of the microprocessor Drosha complex. Among the MeCP2-regulated miRNAs, we found that miR-199a positively controls mTOR signaling by targeting inhibitors for mTOR signaling. miR-199a and its targets have opposite effects on mTOR activity, ameliorating and inducing RTT neuronal phenotypes, respectively. Furthermore, genetic deletion of miR-199a-2 led to a reduction of mTOR activity in the brain and recapitulated numerous RTT phenotypes in mice. Together, these findings establish miR-199a as a critical downstream target of MeCP2 in RTT pathogenesis by linking MeCP2 with mTOR signaling.

Consumidores de baixa renda: uma revisão dos achados de estudos feitos no Brasil

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Marie Agnes Chauvel

Full Text Available As famílias de classe C, D e E (Critério Econômico Brasil representam, aproximadamente, três quartos da população brasileira. Na década de 1990, esses consumidores começaram a despertar a atenção das empresas e dos estudiosos da área de marketing. Ainda assim, existem, até o momento, poucos estudos acadêmicos sobre esse tema. Este artigo se propõe efetuar uma revisão desses trabalhos, de cunho essencialmente descritivo e interpretativo, confrontando e discutindo seus achados dentro de uma perspectiva interpretativa. Seu objetivo é o de tentar avançar na interpretação dos resultados dessas pesquisas, buscando, assim, contribuir para a construção de novos estudos. O artigo está estruturado em torno dos temas abordados nos estudos analisados: classe social; gestão do orçamento; experiência da compra; e papel do preço e da marca nas decisões de compra. Traz, como conclusão, uma proposta de articulação dos elementos interpretativos encontrados nas pesquisas analisadas. Resumidamente, duas racionalidades parecem coexistir na formação das decisões de consumo: uma, "dura", material, derivada da escassez de recursos, que impõe uma racionalização estrita dos gastos; outra, de ordem simbólica, ancorada em elementos culturais e particularmente, nas dimensões relacionais e hierárquicas da sociedade brasileira, bem como em instituições de forte significado nessa sociedade, como a família e a religião.

Bacterial pneumonia following bone marrow transplantation: HRCT findings Achados de TCAR nas pneumonias bacterianas após transplante de medula óssea

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Luiz Otávio de Mattos Coelho

2009-05-01

Full Text Available OBJECTIVE: To describe HRCT findings in patients with bacterial pneumonia following bone marrow transplantation (BMT. METHODS: This was a retrospective study involving 30 patients diagnosed with bacterial pneumonia in whom HRCT of the chest was performed within 24 h after the onset of symptoms and the diagnosis was confirmed, based on a positive culture of sputum or bronchial aspirate, together with a positive pleural fluid or blood culture, within one week after symptom onset. There were 20 male patients and 10 female patients. The median age was 21 years (range, 1-41 years. The BMT had been performed for the treatment of the following: chronic myeloid leukemia, in 14 cases; severe aplastic anemia, in 6; acute myeloid leukemia, in 4; Fanconi's anemia, in 3; and acute lymphocytic leukemia, in 3. Two radiologists analyzed the HRCT scans and reached their final decisions by consensus. RESULTS: The most common HRCT findings were air-space consolidation (in 60%, small centrilobular nodules (in 50%, ground-glass opacities (in 40%, bronchial wall thickening (in 20%, large nodules (in 20%, pleural lesions (in 16.7% and tree-in-bud opacities (in 10%. The pulmonary lesions were distributed in the central and peripheral areas in 15 patients, whereas they were exclusively peripheral in 11. Lesions were located in the lower and middle lobes of the lung in 22 and 20 patients, respectively. CONCLUSIONS: The most common HRCT findings in our patient sample were air-space consolidation, small centrilobular nodules and ground-glass opacities, most often in the central and peripheral regions of the middle and lower lung zones.OBJETIVO: Descrever os achados de TCAR em pacientes com pneumonia bacteriana após transplante de medula óssea (TMO. MÉTODOS: Estudo retrospectivo com 30 pacientes diagnosticados com pneumonia bacteriana, documentada com TCAR do tórax realizada em até 24 h do início dos sintomas, e com diagnóstico comprovado com base em cultura positiva

Automated Quantitative Analysis of p53, Cyclin D1, Ki67 and pERK Expression in Breast Carcinoma Does Not Differ from Expert Pathologist Scoring and Correlates with Clinico-Pathological Characteristics

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Cass, Jamaica D. [Division of Cancer Biology and Genetics, Cancer Research Institute, Queen’s University, Kingston K7L 3N6 (Canada); Varma, Sonal [Department of Pathology and Molecular Medicine, Queen’s University, Kingston K7L 3N6 (Canada); Day, Andrew G. [Kingston General Hospital, Kingston K7L 2V7 (Canada); Sangrar, Waheed [Division of Cancer Biology and Genetics, Cancer Research Institute, Queen’s University, Kingston K7L 3N6 (Canada); Rajput, Ashish B. [Department of Pathology and Molecular Medicine, Queen’s University, Kingston K7L 3N6 (Canada); Raptis, Leda H.; Squire, Jeremy [Division of Cancer Biology and Genetics, Cancer Research Institute, Queen’s University, Kingston K7L 3N6 (Canada); Madarnas, Yolanda [Department of Oncology, Queen’s University, Kingston K7L 3N6 (Canada); SenGupta, Sandip K. [Department of Pathology and Molecular Medicine, Queen’s University, Kingston K7L 3N6 (Canada); Elliott, Bruce E., E-mail: elliottb@queensu.ca [Division of Cancer Biology and Genetics, Cancer Research Institute, Queen’s University, Kingston K7L 3N6 (Canada); Department of Pathology and Molecular Medicine, Queen’s University, Kingston K7L 3N6 (Canada)

2012-07-18

There is critical need for improved biomarker assessment platforms which integrate traditional pathological parameters (TNM stage, grade and ER/PR/HER2 status) with molecular profiling, to better define prognostic subgroups or systemic treatment response. One roadblock is the lack of semi-quantitative methods which reliably measure biomarker expression. Our study assesses reliability of automated immunohistochemistry (IHC) scoring compared to manual scoring of five selected biomarkers in a tissue microarray (TMA) of 63 human breast cancer cases, and correlates these markers with clinico-pathological data. TMA slides were scanned into an Ariol Imaging System, and histologic (H) scores (% positive tumor area x staining intensity 0–3) were calculated using trained algorithms. H scores for all five biomarkers concurred with pathologists’ scores, based on Pearson correlation coefficients (0.80–0.90) for continuous data and Kappa statistics (0.55–0.92) for positive vs. negative stain. Using continuous data, significant association of pERK expression with absence of LVI (p = 0.005) and lymph node negativity (p = 0.002) was observed. p53 over-expression, characteristic of dysfunctional p53 in cancer, and Ki67 were associated with high grade (p = 0.032 and 0.0007, respectively). Cyclin D1 correlated inversely with ER/PR/HER2-ve (triple negative) tumors (p = 0.0002). Thus automated quantitation of immunostaining concurs with pathologists’ scoring, and provides meaningful associations with clinico-pathological data.

Automated Quantitative Analysis of p53, Cyclin D1, Ki67 and pERK Expression in Breast Carcinoma Does Not Differ from Expert Pathologist Scoring and Correlates with Clinico-Pathological Characteristics

International Nuclear Information System (INIS)

Cass, Jamaica D.; Varma, Sonal; Day, Andrew G.; Sangrar, Waheed; Rajput, Ashish B.; Raptis, Leda H.; Squire, Jeremy; Madarnas, Yolanda; SenGupta, Sandip K.; Elliott, Bruce E.

2012-01-01

There is critical need for improved biomarker assessment platforms which integrate traditional pathological parameters (TNM stage, grade and ER/PR/HER2 status) with molecular profiling, to better define prognostic subgroups or systemic treatment response. One roadblock is the lack of semi-quantitative methods which reliably measure biomarker expression. Our study assesses reliability of automated immunohistochemistry (IHC) scoring compared to manual scoring of five selected biomarkers in a tissue microarray (TMA) of 63 human breast cancer cases, and correlates these markers with clinico-pathological data. TMA slides were scanned into an Ariol Imaging System, and histologic (H) scores (% positive tumor area x staining intensity 0–3) were calculated using trained algorithms. H scores for all five biomarkers concurred with pathologists’ scores, based on Pearson correlation coefficients (0.80–0.90) for continuous data and Kappa statistics (0.55–0.92) for positive vs. negative stain. Using continuous data, significant association of pERK expression with absence of LVI (p = 0.005) and lymph node negativity (p = 0.002) was observed. p53 over-expression, characteristic of dysfunctional p53 in cancer, and Ki67 were associated with high grade (p = 0.032 and 0.0007, respectively). Cyclin D1 correlated inversely with ER/PR/HER2-ve (triple negative) tumors (p = 0.0002). Thus automated quantitation of immunostaining concurs with pathologists’ scoring, and provides meaningful associations with clinico-pathological data

Astrocitoma subependimário de células gigantes em pacientes com esclerose tuberosa: achados em ressonância magnética de dez casos Subependymal giant cell astrocytoma in patients with tuberous sclerosis: magnetic resonance imaging findings in ten cases

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Karina Takata

2007-06-01

Full Text Available OBJETIVO: Relatar os achados de ressonância magnética (RM em 10 casos de astrocitoma subependimário de células gigantes (ASCG em pacientes com esclerose tuberosa (ET. MÉTODO: Foram estudados de forma retrospectiva 10 pacientes com ET e diagnóstico histológico comprovado de ASCG. Quatro pacientes eram do sexo masculino e seis do feminino, com idade média de 15,7 anos. Todos os pacientes foram investigados com RM, sendo os exames revisados por dois radiologistas, havendo decisão por consenso sobre os achados de imagem. Foram analisados os seguintes achados: localização, dimensões, intensidade de sinal em T1/T2, realce pós-contraste e outros achados associados. RESULTADOS: Todos os pacientes apresentaram lesão única sugestiva de ASCG, medindo entre 1,5 cm e 8 cm em seu maior diâmetro. Oito lesões foram encontradas junto ao forame de Monro (80% e duas adjacentes ao corpo do ventrículo lateral (20%. Os tumores apresentavam nas imagens pesadas em T1 médio sinal (70% e em T2 alto sinal (100%, com realce intenso após a administração do gadolínio (100%. CONCLUSÃO: Os astrocitomas subependimários de células gigantes em pacientes com ET em geral apresentam-se como lesão única próxima ao forame de Monro, com médio sinal nas imagens ponderadas em T1, alto sinal em T2 e realce intenso após a administração de contraste.OBJECTIVE: To report the magnetic resonance imaging (MRI findings in 10 patients with subependimal giant cell astrocytoma (SGCA and tuberous sclerosis (TS. METHOD: Ten patients were retrospectively studied, presenting TS and histologically proven SGCA. Four patients were male and six female, with mean age 15.7 years. All patients underwent MRI, which was analyzed by two radiologists, final diagnosis was reached by consensus. The following findings were studied: topography, size, signal intensity on T1/T2-weighted images, contrast enhancement and associated findings. RESULTS: All patients presented a single lesion

Clinico-serologic co-relation in bi-directional ABO incompatible hemopoietic stem cell transplantation

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Sabita Basu

2015-01-01

Full Text Available Background: The ABO blood group system is of prime significance in red cell transfusion and organ transplantation. However, ABO compatibility is not critical in allogenic hemopoietic stem cell transplantation (HSCT and approximately 40-50% of hemopoietic stem cell transplants are ABO incompatible. This incompatibility may be major, minor or bi-directional. Though there are descriptions of transfusion practice and protocols in ABO incompatible HSCT, there are considerable variations and transfusion support in these patients can be very challenging. Aims: The immunohematologic observations in two cases of bi-directional ABO incompatible HSCT have been described, and clinico-serologic correlation has been attempted. Materials and Methods: In both cases, peripheral blood stem cell harvests were obtained using the Cobe spectra cell separator. Immunohematologic assessments in the donor and recipient were done as a part of pre HSCT evaluation. Both the standard tube technique and column agglutination method (Ortho Biovue Micro Bead System was used. Antibody screen was done by column agglutination method using three cell panel (Surgiscreen cells. Isoagglutinin titration was done by the master dilution method and standard validated techniques were used. Results: The pattern of laboratory findings in the two cases was different and so were the clinical outcomes. Although there was early engraftment in the first case, the second case developed pure red cell aplasia and this was well-reflected in the immunohematologic assessments. Conclusion: Immunohematologic assessment correlated well with the clinical picture and could be used to predict clinical outcome and onset of complications in ABO incompatible HSCT.

Lymphatic Vessel Density as Prognostic Factor in Breast Carcinoma: Relation to Clinico pathologic Parameters

International Nuclear Information System (INIS)

El-Gendi, S.; Abdel-Hadi, M.

2009-01-01

Angiogenesis and lymphangiogenesis are essential for breast cancer growth and progression. This study aimed at investigating lymphatic micro vessel density (LVD) and microvessel density (MVD) as prognostic markers in breast carcinoma. Forty breast carcinomas were immuno stained for D2-40, CD31 and VEGF. Median lymphatic and blood micro vessel densities, as well as VEGF expression, were related to each other and to clinico pathologic parameters including lymph node (Ln) status. The efficacy of haematoxylin and eosin (H and E) in detecting lymphatic vessel invasion (LVI) compared to D2-40 immunostaining was also investigated. D2-40 stained normal lymphatic endothelium and myoepithelial cells, but with different staining patterns. D2-40 LVD related significantly to CD31 counts (r=0.470; p=0.002), and LN metastasis (Mann-Whitney U=101.500; p=0.043); however, it did not relate to age, tumor grade, tumor size or LVI. D2-40 identified LVI in 3 more cases (7.5%) than those detected by H and E. VEGF was expressed in 85% of cases, and was significantly related to CD31 and D2-40 counts (p=0.033 and 0.007, respectively). In conclusion, D2-40 LVD showed a significant association with LN metastasis, and can be considered to segregate patients with positive from those with negative LNs. D2-40 enhances the detection of LVI relative to H and E staining reflecting a potential for lymphatic metastatic spread and possible poor prognosis

Complicações pulmonares após uso de crack: achados na tomografia computadorizada de alta resolução do tórax Pulmonary complications of crack cocaine use: high-resolution computed tomography of the chest

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Alexandre Mançano

2008-05-01

Full Text Available Relatamos os achados na tomografia computadorizada de alta resolução de um paciente que, após uso de cocaína fumada (crack, desenvolveu quadro de hemoptise, dispnéia e dor torácica súbitas. As radiografias de tórax mostravam consolidações predominando em lobos superiores. A tomografia de alta resolução evidenciava opacidades em vidro fosco, consolidações e nódulos do espaço aéreo. Nova tomografia de controle, após suspensão da droga e uso de corticóides, mostrou regressão parcial das lesões e aparecimento de escavações. A correlação entre os achados clínicos, laboratoriais e de imagem permitiu o diagnóstico de "pulmão de crack".Here, we report high-resolution computed tomography (HRCT findings in a patient who developed sudden hemoptysis, dyspnea and chest pain after smoking crack cocaine. Chest X-rays showed consolidations, primarily in the upper lobes, and HRCT scans showed ground glass attenuation opacities, consolidations and air-space nodules. A follow-up CT, after drug use discontinuation and administration of corticosteroids, showed partial resolution of pulmonary lesions and the appearance of cavitations. Clinical, imaging and laboratory findings led to a diagnosis of 'crack lung'.

Os achados de imagem para avaliação da tríade portal são confiáveis para realização do transplante hepático com doador vivo?

OpenAIRE

Dazzi,Francisco Leôncio; Ribeiro-Júnior,Marcelo Augusto Fontenelle; Mancero,Jorge Marcelo Padilla; Gonzalez,Adriano Miziara; Leão-Filho,Hilton Muniz; Silva,Adávio de Oliveira e; D'Albuquerque,Luiz Augusto Carneiro

2013-01-01

RACIONAL: Um aspecto crucial do transplante hepático inter-vivos é o risco imposto ao doador, devido ser procedimento realizado em pessoa saudável, com possibilidade de alta morbidade pós-operatória. OBJETIVO: Correlacionar os achados de imagem do pré e intra-operatório dos doadores adultos vivos de fígado. MÉTODOS: No período de 2003 a 2008 foram revisados os prontuários de 66 doadores. Foram 42 homens (64%) e 24 mulheres (36%), com média de idade de 30 anos (± 8 anos). A anatomia pré-operat...

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Science.gov (United States)

Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

2016-06-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.

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Townend, Gillian S; Ehrhart, Friederike; van Kranen, Henk J; Wilkinson, Mark; Jacobsen, Annika; Roos, Marco; Willighagen, Egon L; van Enckevort, David; Evelo, Chris T; Curfs, Leopold M G

2018-04-27

Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss-of-function mutation in the gene encoding methyl-CPG-binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations contribute to different levels of disease severity. For researchers and clinicians, it is important that genotype-phenotype information is available to identify disease-causing mutations for diagnosis, to aid in clinical management of the disorder, and to provide counseling for parents. In this study, 13 genotype-phenotype databases were surveyed for their general functionality and availability of RTT-specific MECP2 variation data. For each database, we investigated findability and interoperability alongside practical user functionality, and type and amount of genetic and phenotype data. The main conclusions are that, as well as being challenging to find these databases and specific MECP2 variants held within, interoperability is as yet poorly developed and requires effort to search across databases. Nevertheless, we found several thousand online database entries for MECP2 variations and their associated phenotypes, diagnosis, or predicted variant effects, which is a good starting point for researchers and clinicians who want to provide, annotate, and use the data. © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.

Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan.

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Chin Wong, Lee; Hung, Pi-Lien; Jan, Tz-Yun; Lee, Wang-Tso

2017-07-01

Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 14 ± 6) compared to those with typical RTT (mean: 9 ± 5) (P = 0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P = 0.003, P = 0.006, P = 0.003 and clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P = 0.012), clapping (P = 0.044), and mouthing with single hand (P = 0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1204-1214. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Clinico pathological spectrum of mycosis fungoides type cutaneous t-cell lymphoma

International Nuclear Information System (INIS)

Shaikh, Z.I.; Rahman, S.B.

2006-01-01

Objective: To determine the clinical, histological, and immuno phenotypic characteristics of mycosis fungoides type cutaneous T-cell lymphoma. Design: Descriptive study. Place and Duration of Study: This study was conducted from January 2000 to December 2004 at the Department of Dermatology, Military Hospital and the Department of Dermatopathology, Armed Forces Institute of Pathology, Rawalpindi. Materials and Methods: The medical case records of patients with mycosis fungoides diagnosed during the period of study were surveyed. Data was collected pertaining to patients' characteristics, clinical descriptions, histopathological features, immuno phenotypic analysis and stage of disease at the time of diagnosis. Results: A total of 33 cases of mycosis fungoides were diagnosed between the years 2000 and 2004. There were 24 male and 9 female patients with male to female ratio of 2.6:1 The age ranged from 24 to 68 years and the duration of disease prior to diagnosis varied between 2 to 36 months. The number of skin biopsies performed for definite diagnosis ranged from 01 to 5. The various clinical presentations recorded in these patients were hypo pigmented patches in 7 (21.3%), infiltrated papules and plaques in 6 (18.2%), erythroderma in 5 (15.2%), psoriasiform lesions in 3 (9%), and nodular lesions in 3 (9%) patients. There were 2 (6%) cases respectively of noduloulcerative, ichthyosiform and poikilodermatous lesions, and 1 (3%) case each of follicular, morphoea-like and purpuric skin lesions. The predominant histological features were lymphocytic infiltrate in the upper dermis, epidermotropism, haloed lymphocytes in epidermis, Pautrier's micro abscesses, and interface dermatitis. The immunohistochemical studies (n=12) showed predominantly T helper cell immuno phenotype (CD3+, CD45RO+) in 11 (92%) cases and T suppressor cell immuno phenotype (CD3+, CD8+) in 1 (8%) patient. Conclusion: The mycosis fungoides type cutaneous T-cell lymphoma has a wide clinico

Achados oftalmológicos em pacientes com múltiplas deficiências Ophthalmologic findings in multiple handicapped patients

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Maria Cecília Remígio

2006-12-01

Full Text Available OBJETIVO: Relatar os achados oftalmológicos em portadores de múltiplas deficiências. MÉTODOS: Foram estudados 274 usuários do Sistema Único de Saúde atendidos no Departamento de Oftalmologia Pediátrica e Estrabismo da Fundação Altino Ventura (FAV, no período de junho a setembro de 2004. RESULTADOS: A freqüência dos pacientes quanto ao gênero foi de 58,5% para o masculino e 41,5% para o feminino. A variação das idades foi de 0,1 a 20 anos com mediana de 5. A maioria (61,3% dos pacientes apresentava boa acuidade visual, contudo 38,7% apresentava baixa de visão (PURPOSE: To report the visual findings in patients with multiple handicaps. METHODS: Two hundred and seventy-four patients cared for at the Pediatric and Strabismus Ophthalmology Department of the "Fundação Altino Ventura" - Brazilian National Health System, were examined from June to September 2004. Age varied from 0.1 to 20 years with a median of 5. RESULTS: The majority of the patients (61.3% presented good visual acuity; however low visual acuity (< 20/80 was observed in 38.7% of the patients. Heterotropias were observed in 66 patients (24.0%; astigmatism (53.2% and hyperopia (29.0% were more frequent. CONCLUSION: Children with multiple handicaps need an early ophthalmologic diagnosis and treatment for better global development. The integration of a multidisciplinary team with pediatricians, pediatric ophthalmologists and specialists in low vision, may assure a better visual rehabilitation.

Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity.

Science.gov (United States)

Kondo, Mari A; Gray, Laura J; Pelka, Gregory J; Leang, Sook-Kwan; Christodoulou, John; Tam, Patrick P L; Hannan, Anthony J

2016-02-01

Rett syndrome (RTT) is a neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) and consequent dysregulation of brain maturation. Patients suffer from a range of debilitating physical symptoms, however, behavioral and emotional symptoms also severely affect their quality of life. Here, we present previously unreported and clinically relevant affective dysfunction in the female heterozygous Mecp2(tm1Tam) mouse model of RTT (129sv and C57BL6 mixed background). The affective dysfunction and aberrant anxiety-related behavior of the Mecp2(+/-) mice were found to be reversible with environmental enrichment (EE) from 4 weeks of age. The effect of exercise alone (via wheel running) was also explored, providing the first evidence that increased voluntary physical activity in an animal model of RTT is beneficial for some phenotypes. Mecp2(+/-) mutants displayed elevated corticosterone despite decreased Crh expression, demonstrating hypothalamic-pituitary-adrenal axis dysregulation. EE of Mecp2(+/-) mice normalized basal serum corticosterone and hippocampal BDNF protein levels. The enrichment-induced rescue appears independent of the transcriptional regulation of the MeCP2 targets Bdnf exon 4 and Crh. These findings provide new insight into the neurodevelopmental role of MeCP2 and pathogenesis of RTT, in particular the affective dysfunction. The positive outcomes of environmental stimulation and physical exercise have implications for the development of therapies targeting the affective symptoms, as well as behavioral and cognitive dimensions, of this devastating neurodevelopmental disorder. © 2015 Wiley Periodicals, Inc.

Recurrent pyogenic cholangitis: clinico-pathologic correlation of focal attenuation differences on multi-phasic spiral CT

International Nuclear Information System (INIS)

Jeong, Jun Yong; Han, Joon Koo; Kim, Tae Kyoung; Kim, Seog Joon; Kim, Hyun Bum; Choi, Byung Ihn

2002-01-01

To determine the clinical and the pathologic significance of the focal attenuation differences (FAD) and bile duct wall enhancement occurring in recurrent pyogenic cholangitis (RPC) and seen at multiphasic spiral CT. Among the multiphasic (non-contrast, arterial and portal or delayed phase) spiral CT findings of 60 consecutive patients, two types of FAD were noted during the non-contrast phase. These were Type A (iso) and Type B (low attenuation), and their distribution pattern (lobar versus patchy, multifocal) and the and the presence or absence of bile duct wall enhancement were recorded. The radiologic findings were correlated with the clinical and pathologic findings. Two types of FAD were noted in 40 of the 60 patients. Active in flammation was present in 19 of the 27 with Type-A and in ten of the 15 in whom the presence of RPC was pathologically proven. Ten of the 13 with Type-B FAD were in a subclinical state, and nine of the ten in whom RPC was pathologically proven had chronic inflammation. Among 20 patients who did not have FAD, RPC was subclinical in 18 and dormant in nine of the eleven in whom its presence was pathologically proven (p<0.001). Clinico-pathologic correlation with bile duct wall enhancement and the distribution pattern of FAD showed no statistical significance. The inflammatory activity of RPC can be predicted by analysis of the FAD seen at multiphasic spiral CT

Eating epilepsy: clinical and neuro image aspects - case report; Epilepsia da alimentacao: achados clinicos e de neuroimagem - relato de um caso

Energy Technology Data Exchange (ETDEWEB)

Buchpiguel, Carlos A.; Yacubian, Elza Marcia T.; Fiore, Lia Arno; Jorge, Carmen Lisa; Yamaga, Liliam I.; Watanabe, Tomoco; Bacheschi, Luis A.; Scaff, Milberto; Magalhaes, Alvaro E.A. [Sao Paulo Univ., SP (Brazil). Faculdade de Medicina

1994-04-01

Eating epilepsy is an uncommon form of reflex epilepsy. The authors present a case report of a patient with clinical diagnosis of eating epilepsy who was submitted to clinical tests, neuroimaging studies (MRI and SPECT) and surface EEG. Multiple intercritical EEGs showed sharp discharges in the posterior left temporal area. The MRI did not show any abnormality. The intercritical brain SPECT showed clear hypoperfusion in the posterior left temporal area; so confirming the epileptogenic focus in producing the partial complex seizures triggered by eating. (author) 23 refs., 2 figs., 1 tab.

Hemato-biochemical and clinico-epidemiological aspects of parturient hemoglobinuria in Nili-Ravi buffaloes

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A. Khan

2010-02-01

Full Text Available For this study, 60 buffaloes suffering from parturient hemoglobinuria (PHU were randomly selected from field cases occurring in three districts of Punjab, Pakistan and simultaneously, 60 clinically healthy buffaloes of similar description from the same localities were included for case control study. Clinico-epidemiological data were collected. Blood/serum samples from all buffaloes were collected and analyzed. The most prominent clinical sign was passing of red to coffee colored urine. Milk production was reduced and respiration and pulse rates were significantly accelerated. Ruminal motility was significantly weak and reduced along with characteristic straining while defecating. The case fatality was 15%. A significantly high occurrence of PHU was observed in the winter season (41.8%. Maximum number of affected buffaloes (25.0% was in 4th lactation. Twenty-seven (45.0% buffaloes developed hemoglobinuria in the post calving period and majority (59.3% of these were within 1-23 days of calving. Of the 33 (55.0% PHU affected pregnant buffaloes, 18 (54.6% were in their third trimester. The highest cases of PHU were observed in buffaloes producing 10 or more liters of milk/day (42.5%. Recurrence of PHU was observed in 18.3% buffaloes. Mean values of total erythrocyte counts, hemoglobin concentration and packed cell volume were lower (P<0.001, while erythrocyte sediment rate was higher (P<0.001 in PHU affected buffaloes as compared to the values in healthy buffaloes. Neutrophils were significantly higher, while lymphocytes and erythrocytic glucose-6-phosphate dehydrogenase (G6PD were lower, in PHU affected buffaloes than in healthy buffaloes. Serum phosphorus, copper and selenium were significantly (P<0.001 lower, whereas potassium, iron and molybdenum (P<0.001 were higher in buffaloes suffering from PHU than healthy buffaloes.

Clinico-statistical study on the patients who were applied preoperative CT imaging for dental implant treatment in Iwate Medical University Hospital

International Nuclear Information System (INIS)

Shoji, Satoru; Izumisawa, Mitsuru; Satoh, Hitoshi; Hoshino, Masayuki; Takahashi, Noriaki; Shozushima, Masanori; Nakasato, Tatsuhiko

2007-01-01

The diagnosis of jaw bones using X-ray computed tomography (CT) is important to determine placement of dental implants. A Clinico-statistical study were made on 490 cases which applied preoperative dental mutiplannar reconstructing CT (dental MPR) imaging for dental implant treatment in Iwate Medical University Hospital, during a five-year period from 2002 to 2006. The following results were obtained: The 490 cases consisted of 179 males and 311 females. They ranged in age from 16 to 80 years, the average age was 53.6 years old. The largest number of cases were in their 50's and, in most generations, there were more female cases than male. Similar cases have been increasing every year. Most patients were referred from other clinics to our hospital. Of the cases that underwent CT scanning more were mandible than maxilla. Implantation prearranged region revealed a predominance of mandible in anterior teeth, and maxilla in molar teeth. The cases that were using diagnostic surgical stents increased in the first three years, but were constant afterwards. (author)

Prediction for steatosis in type-2 diabetes: clinico-biological markers versus 1H-MR spectroscopy

International Nuclear Information System (INIS)

Guiu, Boris; Krause, Denis; Cercueil, Jean-Pierre; Crevisy-Girod, Elodie; Binquet, Christine; Duvillard, Laurence; Masson, David; Lepage, Come; Hamza, Samia; Minello, Anne; Hillon, Patrick; Verges, Bruno; Petit, Jean-Michel

2012-01-01

The SteatoTest, fatty liver index (FLI) and hepatic steatosis index (HSI) are clinico-biological scores of steatosis validated in general or selected populations. Serum adiponectin (s-adiponectin) and retinol binding protein 4 (s-RBP4) are adipokines that could predict liver steatosis. We investigated whether the Steatotest, FLI, HSI, s-adiponectin and s-RBP4 could be valid predictors of liver steatosis in type-2 diabetic (T2D) patients. We enrolled 220 consecutive T2D patients. Reference standard was 3.0 T 1 H-MR spectroscopy (corrected for T1 and T2 decays). Intraclass correlation coefficients (ICCs), Kappa statistic measures of agreement, receiver operating characteristic (ROC) curves were assessed. Median liver fat content was 91 mg triglyceride/g liver tissue (range: 0-392). ICCs among the Steatotest, FLI, HSI, s-adiponectin, s-RBP4 and spectroscopy were low: 0.384, 0.281, 0.087, -0.297 and 0.048. Agreement between scores and spectroscopy was poor (Kappa range: 0.042-0.281). The areas under the ROC curves were low: 0.674, 0.647, 0.637, 0.616 and 0.540. S-adiponectin and s-RBP4 levels were strongly related to the presence of diabetic nephropathy (P = 0.0037 and P = 0.004; Mann-Whitney). The SteatoTest, FLI, HSI, s-adiponectin, s-RBP4 are not valid predictors of steatosis in T2D patients. Clino-biological markers cannot replace 1 H-MR spectroscopy for the assessment of liver fat in this population. (orig.)

Clinico-statistical study of preoperative examination for the dental implant using multi-detector row computed tomography

International Nuclear Information System (INIS)

Sekiya, Keiko; Mori, Shintaro; Sekiya, Kotaro

2008-01-01

In April 2006, a new affiliated hospital opened at Nihon University School of Dentistry at Matsudo, and the latest model was introduced into the department of radiology. CT examinations for preoperative dental implant going on 64 multi-detector row CT, the number of cases has increased. CT examination is useful for preoperative dental implant, and many studies of concerning clinical studies using CT images have been reported. The purpose of this study was to the clinico-statistical studies of preoperative CT examinations for dental implant at our radiology department using 64 multi-detector row CT. The subjects consisted of 5174 regions in 1312 cases of preoperative CT examinations, between April 2006 and December 2007. CT machine used was the Aquilion TM 64 (Toshiba Medical Systems, Japan), and the workstation used was the ZIOSTATION (ZIOSOFT, Japan). All of CT examinations were performed the position of implant placement and disease examined from CT findings. The following results were obtained: The 1312 cases consisted of 426 males and 886 females. Patient age ranged from 16 yrs to 86 yrs old, the average age were 55.5 yrs old. Six hundred and seventy four cases were ordered at another private dental office not our hospital, and 638 cases were ordered at our hospital. The numbers of implant placement were on the average of 3.9, and the rate got higher with age. The lesions which detected by preoperative CT examination were maxillary sinusitis, periodontitis, ectopic calcification, and mucous retention cyst. (author)

Calcificações arredondadas como único achado mamográfico no carcinoma da mama: correlação mamografia-anatomia patológica Round calcifications as the sole mammographic finding of breast carcinoma: mammography and pathology correlation

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Alberto Domingues Vianna

2005-06-01

Full Text Available OBJETIVO: Correlacionar os achados da mamografia com os da anatomia patológica nos tumores de mama associados a calcificações arredondadas. MATERIAIS E MÉTODOS: Foram avaliados 16 pacientes portadoras de câncer de mama, cujo único achado mamográfico foi o de calcificações arredondadas, estudando-se o tipo histológico, o padrão de distribuição mais freqüente e a quantidade de calcificações observada. RESULTADOS: O tumor mais freqüente foi o carcinoma ductal in situ (CDIS tipo cribriforme, com 42,9% dos casos, seguido pelo CDIS tipo micropapilar com 23,8%, CDIS tipo comedo com 19% e carcinoma ductal infiltrante com 9,5%. Houve associação de dois ou mais tipos histológicos em cinco casos, perfazendo um total de 21 tumores. Quanto à distribuição, 56% dos casos apresentaram padrão indefinido, 31,25% padrão ductal e 12,5% padrão lobular. Em relação ao número de calcificações, 75% apresentaram mais de 20, 12,5% apresentaram entre 10 e 20 e 12,5% menos de 10 calcificações. CONCLUSÃO: O carcinoma de mama pode ter como único achado a presença de calcificações arredondadas, com padrão de distribuição ductal, lobular ou indefinido.OBJECTIVE: To determine the relationship between mammography findings and pathology results in patients with breast tumors associated with round calcifications. MATERIALS AND METHODS: We analyzed 16 patients with malignant breast tumors whose mammograms showed round calcifications as the sole finding. The histological types, number of calcifications and the most frequent distribution patterns were studied. RESULTS: The most common histological type of these tumors was cribriform carcinoma in 42.9% of the cases, followed by micropapillary carcinoma (23.8%, comedo (19% and infiltrating ductaI carcinoma (9.5%. Association of two or more histological types was seen in five cases in a total of 21 tumors. Uncharacteristic distribution pattern was observed in 56% of the cases, ductal pattern in 31

MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome Síndrome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes

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Mauro Nakayama

2006-06-01

Full Text Available Sjögren-Larsson syndrome (SLS is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy (¹H-MRS reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and ¹H-MRS findings are discussed.A síndrome de Sjögren-Larsson (SJL é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, retardo mental e tetraplegia ou diplegia espástica. Trata-se de um erro inato do metabolismo dos lipídios, causado pela deficiência da enzima microssômica aldeído graxo desidrogenase. Os achados de imagem do encéfalo na SJL demonstram atrofia cerebral e alteração da substância branca. A espectroscopia de prótons, com poucos casos relatados, caracteriza-se pelo elevado pico de lipídios e redução de N-acetil-aspartato. Apresentamos três casos de SJL, com ênfase nos achados da ressonância magnética e da espectroscopia de prótons.

Esplenose Torácica: um achado acidental mais de 20 anos após traumatismo toraco-abdominal

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Helena Lobo Martins

2017-12-01

Full Text Available Resumo: A esplenose torácica é uma condição rara, benigna que resulta da rutura do baço associada ou não a lesão do diafragma, geralmente assintomática e acidentalmente diagnosticada após a realização de exames de imagem por qualquer outro motivo. Apresentamos o caso clínico de um homem de 45 anos de idade, assintomático, com antecedentes de traumatismo do baço consequente a um acidente de viação aos 18 anos de idade. O doente foi enviado a consulta de Pneumologia por achados imagiológicos compatíveis com nódulos pleurais no hemitórax esquerdo, mas a análise histopatológica das referidas lesões demonstrou tratar-se de tecido esplénico. O tratamento dos remanescentes esplénicos é conservador. Estes podem adquirir função imunológica, independentemente do local onde estão implantados, e proteger o organismo de eventuais infeções. Summary: Thoracic splenosis is a rare, benign condition that results from the rupture of the spleen associated or not to diaphragm injury, usually asymptomatic and incidentally diagnosed after performing imaging exams for other reasons. We present the case of a 45-year-old male, asymptomatic, with splenic trauma history subsequent to a traffic accident at 18 years of age. The patient was sent to Pneumology consultation due to imaging findings consistent with pleural nodules in the left hemithorax, but histopathological examination of these lesions showed the presence of splenic tissue. The treatment of splenic remnants is conservative. These can acquire immune function, regardless of their location, and protect the patient from possible infections.

L4-L5-S1 human dermatomes: a clinical, electromyographical, imaging and surgical findings Dermátomos humanos L4, L5 e S1: achados clínicos, eletromiográficos, de imagem e cirúrgicos

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Antonio Tadeu de Souza Faleiros

2009-06-01

Full Text Available There is substantial controversy in literature about human dermatomes. We studied L4, L5, and S1 inferior limb dermatomes by comparing clinical signs and symptoms with conduction studies, electromyographical data, neurosurgical findings, and imaging data from computerized tomography (CT or magnetic resonance imaging (MRI. After analyzing 60 patients, we concluded that L4 is probably located in the medial aspect of the leg, L5 in the lateral aspect of the leg and foot dorsus, and S1 in the posterior aspect of the backside, tight, leg and plantar foot skin. This is the first time that these human dermatomes have been evaluated by combined analysis of clinical, electromyographical, neurosurgical, and imaging data.Há controvérsia na literatura sobre os dermátomos humanos. Estudamos dermátomos do membro inferior comparando sinais e sintomas com estudos eletromiográficos, de imagem e achados cirúrgicos. Analisando 60 pacientes, concluímos que o dermátomo L4 provavelmente está localizado na região medial da perna, o dermátomo L5 na região lateral da perna e dorso do pé, e o dermátomo S1 na nádega, região posterior da coxa e da perna e na região plantar. Este é o primeiro estudo que os dermátomos do membro inferior foram analisados através de dados clínicos, eletromiográficos, imagem e achados cirúrgicos.

The BDNF val-66-met Polymorphism Affects Neuronal Morphology and Synaptic Transmission in Cultured Hippocampal Neurons from Rett Syndrome Mice

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Xin Xu

2017-07-01

Full Text Available Brain-derived neurotrophic factor (Bdnf has been implicated in several neurological disorders including Rett syndrome (RTT, an X-linked neurodevelopmental disorder caused by loss-of-function mutations in the transcriptional modulator methyl-CpG-binding protein 2 (MECP2. The human BDNF gene has a single nucleotide polymorphism (SNP—a methionine (met substitution for valine (val at codon 66—that affects BDNF’s trafficking and activity-dependent release and results in cognitive dysfunction. Humans that are carriers of the met-BDNF allele have subclinical memory deficits and reduced hippocampal volume and activation. It is still unclear whether this BDNF SNP affects the clinical outcome of RTT individuals. To evaluate whether this BDNF SNP contributes to RTT pathophysiology, we examined the consequences of expression of either val-BDNF or met-BDNF on dendrite and dendritic spine morphology, and synaptic function in cultured hippocampal neurons from wildtype (WT and Mecp2 knockout (KO mice. Our findings revealed that met-BDNF does not increase dendritic growth and branching, dendritic spine density and individual spine volume, and the number of excitatory synapses in WT neurons, as val-BDNF does. Furthermore, met-BDNF reduces dendritic complexity, dendritic spine volume and quantal excitatory synaptic transmission in Mecp2 KO neurons. These results suggest that the val-BDNF variant contributes to RTT pathophysiology, and that BDNF-based therapies should take into consideration the BDNF genotype of the RTT individuals.

[Non-metastatic clear cell renal cancer: dependence of the tumour stage on clinico-anatomic and morphologic factors; prognostic value of macro- and karyometric characteristics].

Science.gov (United States)

Iurin, A G

2010-01-01

Non-metastatic clear-cell renal cancer: dependence of the tumour stage on clinico-anatomic and morphologic factors; prognostic value of macro- and karyometric characteristics Sankt Peterburg Pathology Bureau, Sankt Peterburg It was shown based on multivariate regression analysis that pT1a3bN0MO stages of non-metastatic clear-cell renal cancer significantly correlate not only with the tumor size and invasion into the fatty tissue and/or renal vein but also with the invasion into the renal capsule and with the mean maximum diameter and mean nucleus area of tumor cells. There was no correlation of clear-cell renal cancer stages with tumor proliferative activity, gene p53 mutation, oncosuppressor gene PTEN expression, fraction of tumour clear-cell component, and such clinical characteristics as patients' sex, age, and body mass index. Taking into account statistically significant differences between the patients' survival rates, the regression equations developed in this work may be used for the prediction of disease outcome.

Medication adherence among Nigerians with schizophrenia: correlation between clinico-demographic factors and quality of life

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Oluseun P. Ogunnubi

2017-03-01

Full Text Available Medication adherence contributes significantly to symptom remission, recovery and wellbeing in mental illnesses. We evaluated how medication adherence correlates with clinico-demographic factors and quality of life (QoL in a sample of Nigerians with schizophrenia. This descriptive crosssectional study involved 160 randomly selected participants with confirmed diagnosis of schizophrenia based on MINI International Neuropsychiatric Interview. Data on socio-demographic and clinical characteristics of participants were collected with a questionnaire. Medication adherence was assessed with Morisky Medication Adherence Questionnaire, and participants completed the World Health Organization Quality of Life Scale-BREF. The mean age of participants was 38.54 (±11.30 years, and all the participants were on antipsychotics, but only 45% were adherent to their medication. Out of all the participants, 45 (28.2% considered their overall QoL to be good, 97 (60.6% considered theirs to be fair, while 18 (11.2% reported poor QoL. Medication non-adherence correlated negatively with good QoL across multiple dimensions including overall QoL (r=- 0.175, health satisfaction (r=-0.161, physical (r=-0.186 and psychological domain (r=-0.175. Again, participant’s age (r=- 0.190 and age of onset of illness (r=-0.172 correlated negatively with medication nonadherence, and a trend towards relapse delay with medication adherence was also observed (r=-0.155. The effect size of these correlations were however small. Our findings suggest a link between medication adherence and QoL in schizophrenia, such that strategy that addresses medication nonadherence and its determinants may have potential benefits on wellbeing. Further hypotheses-driven studies are desirable.

Prediction for steatosis in type-2 diabetes: clinico-biological markers versus {sup 1}H-MR spectroscopy

Energy Technology Data Exchange (ETDEWEB)

Guiu, Boris; Krause, Denis; Cercueil, Jean-Pierre [University of Burgundy, INSERM U866, BP 87900, Dijon (France); CHU (University Hospital), Department of Radiology, 2 boulevard Marechal de Lattre de Tassigny, BP 77908, Dijon (France); Crevisy-Girod, Elodie [CHU (University Hospital), Department of Endocrinology, Diabetology, and Metabolic Diseases, BP 77908, Dijon (France); Binquet, Christine [University of Burgundy, INSERM U866, BP 87900, Dijon (France); CHU (University Hospital), Department of Biostatistics and Medical Informatics, BP 77908, Dijon (France); Duvillard, Laurence [University of Burgundy, INSERM U866, BP 87900, Dijon (France); Masson, David [University of Burgundy, INSERM U866, BP 87900, Dijon (France); CHU (University Hospital), Department of Biochemistry, BP 77908, Dijon (France); Lepage, Come; Hamza, Samia; Minello, Anne; Hillon, Patrick [University of Burgundy, INSERM U866, BP 87900, Dijon (France); CHU (University Hospital), Department of Hepatology, BP 77908, Dijon (France); Verges, Bruno; Petit, Jean-Michel [University of Burgundy, INSERM U866, BP 87900, Dijon (France); CHU (University Hospital), Department of Endocrinology, Diabetology, and Metabolic Diseases, BP 77908, Dijon (France)

2012-04-15

The SteatoTest, fatty liver index (FLI) and hepatic steatosis index (HSI) are clinico-biological scores of steatosis validated in general or selected populations. Serum adiponectin (s-adiponectin) and retinol binding protein 4 (s-RBP4) are adipokines that could predict liver steatosis. We investigated whether the Steatotest, FLI, HSI, s-adiponectin and s-RBP4 could be valid predictors of liver steatosis in type-2 diabetic (T2D) patients. We enrolled 220 consecutive T2D patients. Reference standard was 3.0 T {sup 1}H-MR spectroscopy (corrected for T1 and T2 decays). Intraclass correlation coefficients (ICCs), Kappa statistic measures of agreement, receiver operating characteristic (ROC) curves were assessed. Median liver fat content was 91 mg triglyceride/g liver tissue (range: 0-392). ICCs among the Steatotest, FLI, HSI, s-adiponectin, s-RBP4 and spectroscopy were low: 0.384, 0.281, 0.087, -0.297 and 0.048. Agreement between scores and spectroscopy was poor (Kappa range: 0.042-0.281). The areas under the ROC curves were low: 0.674, 0.647, 0.637, 0.616 and 0.540. S-adiponectin and s-RBP4 levels were strongly related to the presence of diabetic nephropathy (P = 0.0037 and P = 0.004; Mann-Whitney). The SteatoTest, FLI, HSI, s-adiponectin, s-RBP4 are not valid predictors of steatosis in T2D patients. Clino-biological markers cannot replace {sup 1}H-MR spectroscopy for the assessment of liver fat in this population. (orig.)

Neuroendocrine tumours of the ampulla of Vater: clinico-pathological features, surgical approach and assessment of prognosis.

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Dumitrascu, Traian; Dima, Simona; Herlea, Vlad; Tomulescu, Victor; Ionescu, Mihnea; Popescu, Irinel

2012-08-01

Neuroendocrine tumours occur very rarely in the ampulla of Vater and their clinical behaviour is unknown. The aim of this study is to assess the clinico-pathological features, surgical approach and prognosis of these patients. Six patients with neuroendocrine tumours of the ampulla of Vater treated with curative intent surgery at a single centre were retrospectively analysed. A univariate analysis of potential prognostic factors was also performed (data provided from the present study and literature review). Pancreaticoduodenectomy was curative in all the patients. Overall and disease-free survival rates were significantly better for G1/G2 tumours (p = 0.006 and p = 0.004, respectively). Although frequent, lymph node metastases did not influenced both overall (p = 0.760) and disease-free survival rates (p = 0.745). No significant differences of survival were observed in patients with ENETS stage I/II disease, as compared to ENETS stage III disease (p = 0.169 and p = 0.137, respectively). No differences were observed according to UICC staging system (p = 0.073 and p = 0.177, respectively). Tumours that are less than 2 cm or limited to the ampulla appear to have a better prognosis. The WHO 2010 classification appear to accurately predict patient prognosis, while the ENETS or UICC staging systems have a limited value (especially in regard to lymph node metastases). Radical surgery (i.e. pancreaticoduodenectomy with lymphadenectomy) should be the standard approach in most patients with NET of the ampulla of Vater because this procedure removes all the potential tumour-bearing tissue.

Clinico pathological presentation of tongue cancers and early cancer treatment

International Nuclear Information System (INIS)

Najeeb, T.

2006-01-01

Objective: To analyze clinico pathological presentation of tongue cancers and to calculate survival rates (SR) with disease free survival rates (DFSR) and recurrence rates (RR) in different treatment modalities and to compare the results of surgery alone and radiotherapy alone in stage I and stage II disease and to calculate better option of treatment in early tongue cancers. Design: A longitudinal study. Place and Duration of Study: Department of Otolaryngology and Head and Neck Surgery, Pakistan Institute of Medical Sciences, Islamabad (PIMS) from January 1987 to June 1998. Patients and Methods: Case histories of 67 patients were collected from departmental record. Clinical data included age at diagnosis, gender of patient, location of tumor, presenting symptoms and their duration, biopsy report, predominant histological pattern of tumor, nodal status, stage of tumor, treatment modality employed, tumor recurrence, metastasis and survival rates with disease-free survival rates after 2 years' follow-up. Results: Among 67 patients there were 31 males and 36 females. Mean age was 50 years (range 20 - 80 years). Sixty seven patients with primary cancer of tongue constituted 38.8% of oral cavity cancers during period of 1987 - 1998 in PIMS. Smoking, poor oro dental hygiene (POOH) and betel nuts chewing were the main risk factors. Odynophagia and painful ulcers on lateral border of tongue were the main clinical symptoms with average duration of 7 months. Regional lymph nodes were palpable in 32.8%, 5.5% was in stage I, 35.8% in stage II, 29.8% in stage III, and 28.3% was in stage IV. No patient was found to have distant metastasis. Histopathology in 94% of cases was squamous cell carcinoma (SCC). Recurrence and survival rates were determined in 49 patients. Average time of recurrence was 12.5 months. Recurrence was 100% loco regional (LR). It was 85.7% in patients treated with radiotherapy (RT) alone, 42.1% in patients treated with surgery alone and 31.2% in patients

CLINICO-EPIDEMIOLOGICAL PROFILE OF ORAL CANCER: A HOSPITAL BASED STUDY

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Kapil H Agrawal

2012-07-01

Full Text Available Background: India is heading towards various types of non-communicable diseases, which are also known as modern epidemics. Among these modern epidemics cancer is among the ten commonest cause of mortality in developing countries including India. Oral cancer is a major problem in India and accounts for 50-70% of all the cancers diagnosed. Ninety percent (90% of oral cancers in South East Asia including India are linked to tobacco chewing and tobacco smoking. Research question: What is the profile of Oral cancer (Oral cavity cases reported in the hospital? Objective: To study the clinico-epidemiological profile associated with Oral cancer cases. Methods: Study Design: Hospital based, Cross -sectional study. Settings: Shri Siddhivinayak Ganapati Cancer Hospital, Miraj, Maharashtra. Participants and Sample size: As it is a time bound study sample size comprised of all the confirmed cases of oral cancer reported in the hospital during the study period. The study was carried out from 1st March 2005 to 28th February 2006. Study variables included demographic factors, socioeconomic factors, enquiries regarding modifiable risk factors such as tobacco usage, alcohol consumption, site involved (within oral cavity, staging, histopathological examination, treatment modality used. Data entry and statistical analysis was done using Microsoft excel. Data presented in form of percentages and proportions. Results: Out of the total 160 cases, majority of the subjects were above 40 years age. 36 (22% of subjects were young adults (below 40 years age. 125 (78% subjects were male. Most of the subjects belonged to upper lower and lower middle socio-economic scale according to modified Kuppuswamy classification. It was observed that 139 (87% cases consumed tobacco in all forms. Out of these, ninety cases consumed tobacco in chewable form. Tobacco was chewed mainly in the form of gutka. Only ten (10 female subjects chewed tobacco. No female subjects smoked. The most

Clinico-pathological profile in the infants and children in dengue 2012 epidemic, Kolkata

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Saha K Ashis, Ghosh Shibendu

2014-03-01

Full Text Available Background: Dengue fever (DF is responsible for cyclical and frequent epidemic in different parts of India in its varieties of presentations. In 1992 large number of children died of Dengue hemorrhagic fever (DHF. Aims and objective: In this study, we evaluated the demography and clinico-pathological profile in dengue affected infants and children in 2012 Kolkata epidemic. Materials and methods: Total 233 patients (between 1-18 years, with either Non structural protein 1 antigen or dengue Immunoglobulin positive admitted in our hospital. After taking proper history and physical examination, blood were sent for different hematological and biochemical examinations on the day of admission and after 24-48 hours of admission. We differentiated the dengue patients into DF and DHF based on platelet count. Results: Male female ratio and DF to DHF ratio were 1: 0.86 and 1: 3.5 respectively. Mean age of DF and DHF were 10.31±5.41 years and 12.6±4.51 years respectively. Mean duration of fever in DF and DHF cases were 5.33±1.13 and 6.08±1.79 days respectively. Headache, backache, nausea/vomiting, rash, anorexia, loose motions were statistically significant in DF. In spite of significant positive tourniquet test in DHF patients (76.92%, only 13 patients showed evidence of bleeding. Hematocrit (Hct values between 30-40 and below 30 were significant in DHF and DF patients respectively. Leucopenia and increased liver enzymes (SGOT and SGPT were commonly observed in both DF and DHF patients. Hepatomegaly was observed in 13.72% of DF patients, whereas, isolated hepatomegaly, ascites, combined hepatomegaly with ascites and evidence of pleural effusion were observed in 4.94%, 1.64%, 3.29% and 7.14% of DHF patients respectively. Conclusion: In seropositive DHF patients, fever, headache, backache, loose motions were the predominant symptoms associated with hepatomegaly, elevated liver enzymes and evidence of plasma leakage.

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Science.gov (United States)

Sprovieri, T; Conforti, F L; Fiumara, A; Mazzei, R; Ungaro, C; Citrigno, L; Muglia, M; Arena, A; Quattrone, A

2009-02-15

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not been completely elucidated, the CDKL5 appears to be physiologically related to the MECP2 gene. Here we report on the clinical and CDKL5 molecular investigation in a very unusual RTT case, with severe, early-neurological involvement in which we have shown in a previous report, a novel P388S MECP2 mutation [Conforti et al. (2003); Am J Med Genet A 117A: 184-187]. The patient has had severe psychomotor delay since the first month of life and infantile spasms since age 5 months. Moreover, at age 5 years the patient suddenly presented with renal failure. The severe pattern of symptoms in our patient, similar to a CDKL5 phenotype, prompted us to perform an analysis of the CDKL5, which revealed a novel missense mutation never previously described. The X-inactivation assay was non-informative. In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that CDKL5 analysis is recommended in patients with a seizure disorder commencing during the first months of life.

Apendicite aguda: achados na tomografia computadorizada - ensaio iconográfico Acute appendicitis: computed tomography findings - an iconographic essay

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Marcelo Eustáquio Montandon Júnior

2007-06-01

Full Text Available A apendicite aguda é a causa mais comum de dor abdominal aguda que requer intervenção cirúrgica no mundo ocidental. O diagnóstico precoce é essencial para minimizar a morbidade da doença. O uso dos métodos de imagem significou grande avanço no diagnóstico desta entidade, até então avaliada apenas com base na história clínica, exame físico e dados laboratoriais, haja vista que 20% a 33% dos pacientes apresentam sintomas atípicos. O diagnóstico é mais difícil nas crianças, nos idosos e nas mulheres em idade fértil. Os principais métodos de imagem para sua avaliação são a ultra-sonografia e a tomografia computadorizada. Os objetivos deste trabalho são: descrever a fisiopatologia da doença, comentar os principais aspectos técnicos da tomografia computadorizada, demonstrar e ilustrar os achados tomográficos e citar os principais diagnósticos diferenciais.Acute appendicitis is the most important cause of abdominal pain requiring surgical intervention in the Western world. The early diagnosis of this disease is of paramount relevance for minimizing its morbidity. Imaging methods have represented a huge progress in the diagnosis of this entity, which used to be based essentially on clinical history, physical examination and laboratory tests results, considering that 20% to 33% of patients present with atypical symptoms. Diagnostic difficulty is higher in children, the elderly, and women in childbearing age. The main imaging methods for evaluation of acute appendicitis are ultrasound and computed tomography. The present study is aimed at describing the disease physiopathology, commenting main computed tomography technical aspects, demonstrating and illustrating tomographic findings, and describing main differential diagnoses.

Ergoterapeutická intervence u dětí s Rettovým syndromem

OpenAIRE

Husovská, Veronika

2016-01-01

This thesis deals to occupational therapy intervention for children with Rett syndrome. The aim of this bachelor thesis is to describe Rett syndrome and summary of occupational therapy interventions for girls with this disease. The thesis is divided into two parts. One is theoretical and the other is practical. The theoretical part describes the characteristics of Rett syndrome, its diagnosis, symptoms and 5 stages of the syndrome. The theoretical part describes the methods by which is possib...

NonScarring Diffuse Hair Loss in Women: a Clinico-Etiological Study from tertiary care center in North-West India.

Science.gov (United States)

Poonia, Kavita; Thami, Gurvinder Pal; Bhalla, Mala; Jaiswal, Shivani; Sandhu, Jasleen

2018-05-17

Diffuse hair loss (DHL) is a common problem in adult women and has a major impact on quality of life. Ascertaining the etiological diagnosis is a challenging task in such patients. Satisfactory treatment can only be instituted after ascertaining the cause of hair loss. To study the clinico-epidemiological profile of nonscarring DHL in females and to ascertain its underlying etiological factors. Of a total of 110 females, who presented with nonscarring DHL to the outpatient dermatology department, 100 qualified for inclusion in the study. A detailed history, clinical examination, and laboratory investigations were performed in all the patients. Statistical analysis was performed on the data collected. Of 100 cases of DHL which were included in the study, commonest was chronic telogen effluvium (CTE) (62%), followed by female pattern hair loss (FPHL) (22%) and acute telogen effluvium (ATE) (16%). Incidence of hair loss was highest in 21-40 years age group. Psychological stress was seen to be a precipitating factor in 18 patients and found most commonly in women belong to CTE group (n-16, 25.8%). Hemoglobin levels ranged from 80 to 142 gm/L (mean: 119 ± 110). Low hemoglobin level (hair loss, and their supplementation may be needed for a faster regrowth of hair in all cases of hair loss irrespective of the pattern. © 2018 Wiley Periodicals, Inc.

PATTERNS OF SEVEN AND COMPLICATED MALARIA IN CHILDREN

African Journals Online (AJOL)

GB

... pain and stress. KEYWORDS: Rett Syndrome, stereotypic hand movements, behavior therapy. .... Two groups of oral manifestations of Rett syndrome ... The individual becomes stiff and may lose muscle tone. ... versus speech skills. iii) Play ...

Comparison between human and rat TMJ: anatomic and histopathologic features Comparação entre a ATM humana e de ratos: achados anatômicos e histopatológicos

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Gabriela Granja Porto

2010-06-01

Full Text Available PURPOSE: To describe and evaluate normal rat temporomandibular joints from anatomic and histopathologic point of view and make a comparison between this joint in rats and humans. METHODS: Twelve male adult Wistar rats (12 same side joints were used in this procedure. The following anatomical structures were histologically evaluated in a qualitative fashion: condyle, disc, temporal bone, retrodiscal tissue and synovia. The macroscopical and microscopic study of the human TMJ was based on the current literature. RESULTS: The TMJ is surrounded by a thin capsule, consisting of fibrous tissue, and a synovial lining. The mandibular angle has a prominent shape. The glenoid fossa is flat, with no eminences. Histologically, the TMJ is composed of different tissues that comprise the mandibular head, mandibular fossa and fibrocartilaginous disc. A layer of hyaline cartilage covers the articulating cortical condyle and temporal bone. CONCLUSION:Morphologically and histologically, the articular structure of rats is, on the whole, similar to that of humans. In these animals there is no articular eminence.OBJETIVO: Descrever e avaliar a articulação temporomandibular de ratos sob o aspecto anatômico e histológico e realizar uma comparação entre esta articulação e a de humanos. MÉTODOS: Foram utilizados doze ratos adultos Wistar (12 articulações do mesmo lado. As seguintes estruturas anatômicas foram avaliadas de forma qualitativa: côndilo, disco, osso temporal, tecido retrodiscal e sinóvia. O estudo macroscópico e o microscópico da ATM humana foram baseados na literatura atual. RESULTADOS: A ATM é envolvida por uma fina cápsula, formada por tecido fibroso e cobertura sinovial. O ângulo mandibular é proeminente. A fossa glenoide é rasa, sem eminência articular. De acordo com os achados histológicos, a ATM é composta por diferentes tecidos, são eles a cabeça da mandíbula, a fossa mandibular e o disco fibrocartilaginoso. Uma camada de

Non-Small-Cell Lung Cancer Clinico pathologic Features and Survival Outcomes in Asian Pacific Islanders Residing in the United States: A SEER Analysis

International Nuclear Information System (INIS)

Hamid, M. S.; Shameem, R.; Gafoor, K.; George, J.; Mina, B.; Sullivan, K.

2015-01-01

The objective of our study was to ascertain racial/ethnic disparities in Asian/Pacific Islanders (API) for non-small-cell lung cancer (NSCLC) clinico pathologic features and survival outcomes based on various tumor characteristics and treatment modalities. Method. SEER database identified invasive NSCLC cases from 2004 to 2010. Variables included American Joint Committee on Cancer (AJCC) stage 7, tumor grade, tumor size, histology, age, marital status, radiation, surgery, and reason for no surgery. The Kruskall-Wallis test and the Z test were used to examine differences between races/ethnicities and the referent, non-Hispanic white (NHW). Multivariate Cox proportional analyses were used to establish the weight of the prognostic significance contributing to disease-specific survival (DSS) in each AJCC stage. Result. Improved DSS was seen in API across stage I (HR: 0.78), stage II (HR: 0.79), and stage IV (HR: 0.86), respectively, compared to the referent NHW (P<0.01). being female gender, AIS histology, and birth outside the US (P<0.01). Conclusion. We have demonstrated improved survival among API in early stage and stage IV NSCLC. Further research is necessary to clarify the role of lifestyle and tumor biology for these differences.

Immunohistochemical Expression of Survivin in Breast Carcinoma: Relationship with Clinico pathological Parameters, Proliferation and Molecular Classification

International Nuclear Information System (INIS)

YOUSSEF, N.S.; HEWEDI, I.H.; ABD RABOH, N.M.

2008-01-01

Background and Objective: Survivin is a novel member of the inhibitor of apoptosis (IAP) gene family. It is associated with more aggressive behavior and parameters of poor prognosis in most human cancers including gastric, colorectal and bladder carcinomas. However, conflicting data exist on its prognostic effect in breast cancer. This current study is designed to assess survivin expression in breast carcinoma relating results with clinico pathological parameters, proliferation (MIB-1) and molecular classification. Material and Methods: Our retrospective study com- prised of 65 archived cases of breast carcinoma. Samples from the tumor and the adjacent normal breast tissue were immuno stained for survivin and MIB-1. Nuclear and cytoplasmic survivin expression was evaluated in normal breast tissue and carcinoma regarding both the intensity and the percentage of positive cells. ER, PR, HER2 were used as surrogate markers to classify the cases into four molecular subtypes. Results: Survivin expression was detected in 78.5% of breast carcinomas. The adjacent normal breast tissue was immuno negative. Survivin expression showed significant association with increased tumor size ( p <0.0001), high histologic grade ( p =0.04), lymph node metastases ( p <0.001), advanced tumor stage ( p <0.0001), MIB-1 expression ( p =0.02), negative estrogen receptor status ( p =0.01) and negative progesterone receptor status ( p <0.0001). The subcellular localization of survivin significantly related to histologic grade, stage and lymph node involvement. The percentage of TNP (triple negative phenotype) and HER2+/ER-PR- tumors expressing survivin were significantly higher compared to the Luminal subtypes ( p =0.01). Conclusion: Survivin expression was associated with parameters of poor prognosis in breast cancer. Moreover, the cancer-specific expression of survivin, coupled with its importance in inhibiting cell death and in regulating cell division, makes it a potential target for novel

Andean cutaneous leishmaniasis (Andean-CL, uta) in Peru and Ecuador: the causative Leishmania parasites and clinico-epidemiological features.

Science.gov (United States)

Hashiguchi, Yoshihisa; Gomez, Eduardo A L; Cáceres, Abraham G; Velez, Lenin N; Villegas, Nancy V; Hashiguchi, Kazue; Mimori, Tatsuyuki; Uezato, Hiroshi; Kato, Hirotomo

2018-01-01

This study provides comprehensive information on the past and current status of the Andean cutaneous leishmaniasis (Andean-CL, uta) in Peru and Ecuador, mainly focusing on the causative Leishmania parasites and clinico-epidemiological features. Available information and data including our unpublished works were analyzed thoroughly. Endemic regions of the Andean-CL (uta) in Peru run from the north Piura/Cajamarca to the south Ayacucho at a wide range of the Pacific watersheds of the Andes through several departments, while in Ecuador those exist at limited and spotted areas in the country's mid-southwestern two provinces, Azuay and Chimborazo. The principal species of the genus Leishmania are completely different at subgenus level, L. (Viannia) peruviana in Peru, and L. (Leishmania) mexicana and L. (L.) major-like (infrequent occurrence) in Ecuador. The Peruvian uta is now prevalent in different age and sex groups, being not clearly defined as found in the past. The precise reasons are not known and should be elucidated further, though probable factors, such as emergence of other Leishmania parasites, non-immune peoples' migration into the areas, etc., were discussed briefly in the text. The Andean-CL cases in Ecuador are more rural than before, probably because of a rapid development of the Leishmania-positive communities and towns, and the change of life-styles of the inhabitants, including newly constructed houses and roads in the endemic areas. Such information is helpful for future management of the disease, not only for Leishmania-endemic areas in the Andes but also for other endemic areas. Copyright © 2017 Elsevier B.V. All rights reserved.

Clinico-Biochemical Correlation to Histological Findings in Alcoholic Liver Disease: A Single Centre Study from Eastern India

Science.gov (United States)

Khanra, Dibbendhu; Sonthalia, Nikhil; Kundu, Supratip; Biswas, Kaushik; Talukdar, Arunansu; Saha, Manjari; Bera, Himel

2014-01-01

Background: Alcoholism is a health problem not only in developed countries but also in developing countries. Cirrhosis due to alcohol is a common cause of death among individuals abusing alcohol. A better knowledge of the spectrum of alcoholic liver diseases, its clinical, biochemical and histopathological features could result in early detection and prevention of alcoholic liver diseases before it’s catastrophic and life threatening effects. Materials and Methods: A total of 200 patients with alcoholic liver diseases were studied with respect to alcohol consumption, clinical features, biochemical and histopathological changes. The clinical features, biochemical parameters, and histopathology of liver including Ishak’s modified histological activity index (HAI) were correlated with the amount and duration of alcohol consumed. Result: Majority of the patients were in the age group of 40-49 years and all the cases were males. Majority consumed alcohol of about 75-90 grams per day for a duration of 10–12 years. Anorexia and jaundice were the most common symptom and clinical finding respectively. Hyperbilirubinemia and hypoalbuminemia were the most common abnormalities observed in liver function tests. Advanced HAI stages with features of cirrhosis were most frequent histo-pathological finding noted in this study. Clinico-biochemical profile was significantly correlated with degree of alcohol ingestion as well as with liver histopathology. Conclusion: The wide prevalence of alcoholic liver disease including cirrhosis among Indian males was noted with significantly lower quantity and duration of alcohol ingestion. The severity of liver damage is directly proportional to the quantity and duration of alcohol consumed. Clinical features and biochemical changes may forecast the liver histopathology among the patients of alcoholic liver disease. PMID:25478382

Validation of the prognostic gene portfolio, ClinicoMolecular Triad Classification, using an independent prospective breast cancer cohort and external patient populations

Science.gov (United States)

2014-01-01

Introduction Using genome-wide expression profiles of a prospective training cohort of breast cancer patients, ClinicoMolecular Triad Classification (CMTC) was recently developed to classify breast cancers into three clinically relevant groups to aid treatment decisions. CMTC was found to be both prognostic and predictive in a large external breast cancer cohort in that study. This study serves to validate the reproducibility of CMTC and its prognostic value using independent patient cohorts. Methods An independent internal cohort (n = 284) and a new external cohort (n = 2,181) were used to validate the association of CMTC between clinicopathological factors, 12 known gene signatures, two molecular subtype classifiers, and 19 oncogenic signalling pathway activities, and to reproduce the abilities of CMTC to predict clinical outcomes of breast cancer. In addition, we also updated the outcome data of the original training cohort (n = 147). Results The original training cohort reached a statistically significant difference (p risk groups. Conclusions Both prospective internal cohorts and the independent external cohorts reproduced the triad classification of CMTC and its prognostic significance. CMTC is an independent prognostic predictor, and it outperformed 12 other known prognostic gene signatures, molecular subtype classifications, and all other standard prognostic clinicopathological factors. Our results support further development of CMTC portfolio into a guide for personalized breast cancer treatments. PMID:24996446

Reflexões sobre a ceratite fúngica por meio dos achados de exames histopatológicos

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Fernando Queiroz Monte

2013-04-01

Full Text Available OBJETIVO: Estudo de botões corneanos por meio do exame histopatológico para verificar as alterações ocorridas nos tecidos corneanos numa infecção fúngica e tirar desses achados orientações para o diagnóstico e o tratamento. MÉTODOS: Trabalho retrospectivo, realizado num Banco de Olhos (BOO entre janeiro de 2006 e junho de 2011, usando dados de prontuários a partir das informações enviadas pelos cirurgiões e sendo examinado material recebido de ceratoplastia penetrante com o exame de 38 peças de 35 pacientes, sendo processadas e feitas de uma a três colorações de acordo com as dificuldades diagnósticas. RESULTADOS: Os pacientes eram na maioria homens, 57% (n=35, a faixa etária acima de 60 anos a mais numerosa com 1/3 dos pacientes. Os casos de ceratite fúngica correspondiam à média de 6,4% (n=597 do material recebido no BOO e 1,65% (n=2310 dos transplantes ocorrido com o material fornecido nos últimos 5 anos. Pelas informações dos cirurgiões 39,5% (n=38 dos casos deviam-se a perfuração corneana. Usando as datas dos transplantes foi feita uma Tábua de Observação. Em 11 (n=38 casos, a córnea procedia de transplante anterior. As formas leveduriformes nos tecidos corneanos eram de 63% (n=38. Em 50% (n=38 dos casos o infiltrado inflamatório era pequeno ou inexistente. A camada de Descemet estava íntegra em 13% (n=38, enquanto eram encontrados fungos na superfície corneana de 45% (n=38 dos casos. CONCLUSÃO: A coleta do material poderá ser feita com sucesso mesmo depois de instalado o tratamento, entretanto, nas úlceras de córnea deve ser feito preferentemente a coleta de material com espátula para exame laboratorial e a microscopia confocal in vivo. A predominância das leveduras poderá ser devido a alterações morfológicas do fungo sofridas no tecido corneano. A penetração intraocular é facilitada por alterações da Camada de Descemet e pela própria capacidade do fungo de penetrar nos tecidos

Encefalopatia induzida por cefepime: achados clínicos e eletroencefalográficos em sete pacientes Cefepime-induced encephalopathy: clinical and electroencephalographic features in seven patients

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José Augusto Bragatti

2005-03-01

Full Text Available Cefepime, uma cefalosporina de quarta geração, com amplo espectro de ação, é um antibiótico largamente utilizado no tratamento de infecções graves em ambientes hospitalares. O registro de segurança deste fármaco é considerado favorável. Vários casos de encefalopatia grave, associada ao uso de cefepime, reversível, foram descritos recentemente. No presente artigo, descrevemos sete casos de encefalopatia induzida por cefepime, com achados eletroencefalográficos (EEG característicos, que apresentaram reversão do quadro com a suspensão da droga. As relações do padrão EEG encontrado nestes pacientes com estado epiléptico não-convulsivo são consideradas, bem como a possibilidade de enquadrar os pacientes estudados na entidade "encefalopatia epileptiforme".Cefepime, a fourth-generation cephalosporin, with large antibacterial spectrum, is a commonly used antibiotic for the treatment of serious hospitalar infections. Its security report is considered favourable. Recently, many cases of a severe and reversible cefepime-induced encephalopathy were described. In this paper, we report seven patients with reversible cefepime-induced encephalopathy, with a peculiar EEG pattern, characterized by semiperiodic diffuse triphasic waves. We discuss the EEG abnormalities found and their association with nonconvulsive status epilepticus.

Impact of body mass index on clinico-pathological parameters and outcome in patients with metastatic prostate cancer

International Nuclear Information System (INIS)

Mohammed, A.A.; EL-Tanni, H.; Ghanem, H.M.; El Saify, A.M.; Al-Zahrani, A.S.; EL-Khatib, H.M.; Mohammed, A.A.; Farooq, M.U.; EL-Shentenawy, A.

2015-01-01

This study evaluates the correlation between body mass index (BMI) and clinico pathological parameters of metastatic prostate cancer (MPC) and its impact on survival. Method During the study period, 71 MPC patients were eligible. Patients with BMI < 25.0 kg/m2 were categorized as level I and patients with BMI ⩾ 25.0 kg/m2 were categorized as level II. Demographic features and survival rates were evaluated by the Kaplan–Meier method and Cox proportional models. Results 31 patients belonged to level I while the rest belonged to level II with insignificant higher median follow-up duration in level II; ρ=0.5. In terms of age, metastasis, serum level of albumin, prostatic specific antigen, alkaline phosphatase (AKP) and Gleason score, there was no significant difference between the two levels. The cumulative survival probability in the 12th, 24th and 36th month in level I vs; level II was; 86.7%, 68.7%, 64.1% vs; 74.4%, 67.7%, 55.1%, respectively with 7 patients dead in level I compared to 14 patients dead in level II denoting a higher PC-specific death rate in the level II group. In univariate and multivariate analysis, poor prognosis was associated with increasing AKP (HR = 1.0005, 95% CI, p = 0.03; HR=1.001, 95% CI, ρ=0.03) respectively, while better prognosis was associated with no visceral metastasis (HR = 0.09, 95% CI, ρ=0.000; HR = 0.04, 95% CI, ρ=0.000) and increasing albumin levels (HR = 0.17, 95% CI, ρ=0.000; HR = 0.15, 95% CI, ρ=0.000) respectively. In multivariate analysis only, patients belonging to level I were associated with better prognosis (HR = 0.17, 95% CI, ρ=0.02). Conclusion BMI is dependent on prognostic factors in patients with MPC

Clinico-psycho-social profile of patients brought under consultation-liaison psychiatry care in a large tertiary care referral hospital

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P Patra

2017-01-01

Full Text Available Objective: The aim of this study was to access the clinico-psycho-social profile of patients brought under consultation-liaison (CL psychiatry care in a large tertiary care referral hospital. Materials and Methods: This study included all patients who were referred for CL psychiatry from among the inpatients in the hospital and the emergency department (during off working hours of the hospital over a period of 1 year. Data were obtained and analyzed in terms of where was the referral placed, by whom, the reason for placing the referral, the primary medical/surgical diagnosis of the patient, the presenting complaints, any past psychiatric history, the psychiatric diagnosis (as per the International Classification of Diseases, Tenth Edition, the investigations advised and their reports, the treatment advised (psychotherapeutic and psychopharmacological, the sociodemographic profile of the patients, and the follow-up details. Results: A total of 157 patients were referred to the CL unit over the study period. Out of these, 125 patients were referred among the inpatients and 32 from the emergency department of the hospital. Majority of the patients were in the age group of 25–50 years and were male. The majority of the referrals were made by general physician; most of the referrals were placed from emergency department. The most common reason for referral was for altered sensorium and behavioral abnormalities. The most common diagnosis was delirium followed by depressive episode and alcohol dependence syndrome. Conclusion: There was higher representation of delirium and alcohol-related cases in our study compared to older studies.

Lactonase Activity and Lipoprotein-Phospholipase A2 as Possible Novel Serum Biomarkers for the Differential Diagnosis of Autism Spectrum Disorders and Rett Syndrome: Results from a Pilot Study

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Joussef Hayek

2017-01-01

Full Text Available Rett syndrome (RTT and autism spectrum disorders (ASDs are not merely expression of brain dysfunction but also reflect the perturbation of physiological/metabolic homeostasis. Accordingly, both disorders appear to be associated with increased vulnerability to toxicants produced by redox imbalance, inflammation, and pollution, and impairment of systemic-detoxifying agents could play a role in the exacerbation of these detrimental processes. To check this hypothesis, the activities of two mechanistically related blood-based enzymes, paraoxonase-1 (arylesterase, paraoxonase, and lactonase, and lipoprotein-associated phospholipase A2 (Lp-PLA2 were measured in the serum of 79 ASD and 95 RTT patients, and 77 controls. Lactonase and Lp-PLA2 showed a similar trend characterized by significantly lower levels of both activities in ASD compared to controls and RTT (p<0.001 for all pairwise comparisons. Noteworthy, receiving operator curve (ROC analysis revealed that lactonase and, mostly, Lp-PLA2 were able to discriminate between ASD and controls (lactonase: area under curve, AUC = 0.660; Lp-PLA2, AUC = 0.780, and, considering only females, between ASD and RTT (lactonase, AUC = 0.714; Lp-PLA2, AUC = 0.881. These results suggest that lactonase and, especially, Lp-PLA2 activities might represent novel candidate biomarkers for ASD.

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

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Minchenko Dimitri

2010-04-01

Full Text Available Abstract Background The Rett Syndrome (RTT brain displays regional histopathology and volumetric reduction, with frontal cortex showing such abnormalities, whereas the occipital cortex is relatively less affected. Results Using microarrays and quantitative PCR, the mRNA expression profiles of these two neuroanatomical regions were compared in postmortem brain tissue from RTT patients and normal controls. A subset of genes was differentially expressed in the frontal cortex of RTT brains, some of which are known to be associated with neurological disorders (clusterin and cytochrome c oxidase subunit 1 or are involved in synaptic vesicle cycling (dynamin 1. RNAi-mediated knockdown of MeCP2 in vitro, followed by further expression analysis demonstrated that the same direction of abnormal expression was recapitulated with MeCP2 knockdown, which for cytochrome c oxidase subunit 1 was associated with a functional respiratory chain defect. Chromatin immunoprecipitation (ChIP analysis showed that MeCP2 associated with the promoter regions of some of these genes suggesting that loss of MeCP2 function may be responsible for their overexpression. Conclusions This study has shed more light on the subset of aberrantly expressed genes that result from MECP2 mutations. The mitochondrion has long been implicated in the pathogenesis of RTT, however it has not been at the forefront of RTT research interest since the discovery of MECP2 mutations. The functional consequence of the underexpression of cytochrome c oxidase subunit 1 indicates that this is an area that should be revisited.

Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.

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Plummer, J T; Evgrafov, O V; Bergman, M Y; Friez, M; Haiman, C A; Levitt, P; Aldinger, K A

2013-10-22

Single nucleotide variants (SNV) in the gene encoding the MET receptor tyrosine kinase have been associated with an increased risk for autism spectrum disorders (ASD). The MET promoter SNV rs1858830 C 'low activity' allele is enriched in ASD, associated with reduced protein expression, and impacts functional and structural circuit connectivity in humans. To gain insight into the transcriptional regulation of MET on ASD-risk etiology, we examined an interaction between the methyl CpG-binding protein 2 (MeCP2) and the MET 5' promoter region. Mutations in MeCP2 cause Rett syndrome (RTT), a predominantly female neurodevelopmental disorder sharing some ASD clinical symptoms. MeCP2 binds to a region of the MET promoter containing the ASD-risk SNV, and displays rs1858830 genotype-specific binding in human neural progenitor cells derived from the olfactory neuroepithelium. MeCP2 binding enhances MET expression in the presence of the rs1858830 C allele, but MET transcription is attenuated by RTT-specific mutations in MeCP2. In the postmortem temporal cortex, a region normally enriched in MET, gene expression is reduced dramatically in females with RTT, although not due to enrichment of the rs1858830 C 'low activity' allele. We newly identified a sex-based reduction in MET expression, with male ASD cases, but not female ASD cases compared with sex-matched controls. The experimental data reveal a prominent allele-specific regulation of MET transcription by MeCP2. The mechanisms underlying the pronounced reduction of MET in ASD and RTT temporal cortex are distinct and likely related to factors unique to each disorder, including a noted sex bias.

The free radical scavenger Trolox dampens neuronal hyperexcitability, reinstates synaptic plasticity, and improves hypoxia tolerance in a mouse model of Rett syndrome

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Oliwia Alicja Janc

2014-02-01

Full Text Available Rett syndrome (RS causes severe cognitive impairment, loss of speech, epilepsy, and breathing disturbances with intermittent hypoxia. Also mitochondria are affected; a subunit of respiratory complex III is dysregulated, the inner mitochondrial membrane is leaking protons, and brain ATP levels seem reduced. Our recent assessment of mitochondrial function in MeCP2-deficient mouse (Mecp2-/y hippocampus, confirmed early metabolic alterations, an increased oxidative burden, and a more vulnerable cellular redox balance. As these changes may contribute to the manifestation of symptoms and disease progression, we now evaluated whether free radical scavengers are capable of improving neuronal and mitochondrial function in RS. Acute hippocampal slices of adult mice were incubated with the vitamin E derivative Trolox for 3-5 h. In Mecp2-/y slices this treatment dampened neuronal hyperexcitability, improved short-term plasticity, and fully restored synaptic long-term potentiation. Furthermore, Trolox specifically attenuated the increased hypoxia susceptibility of Mecp2-/y slices. Also, the anticonvulsive effects of Trolox were assessed, but the severity of 4-aminopyridine provoked seizure-like discharges was not significantly affected. Adverse side effects of Trolox on mitochondria can be excluded, but clear indications for an improvement of mitochondrial function were not found. Since several ion-channels and neurotransmitter receptors are redox modulated, the mitochondrial alterations and the associated oxidative burden may contribute to the neuronal dysfunction in RS. We confirmed in Mecp2-/y hippocampus that Trolox dampens neuronal hyperexcitability, reinstates synaptic plasticity, and improves hypoxia tolerance. Therefore, radical scavengers are promising compounds for the treatment of neuronal dysfunction in RS and deserve further detailed evaluation.

Comparing Parental Well-Being and Its Determinants across Three Different Genetic Disorders Causing Intellectual Disability

Science.gov (United States)

Mori, Yuka; Downs, Jenny; Wong, Kingsley; Heyworth, Jane; Leonard, Helen

2018-01-01

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n…

Third harmonic generation imaging of intact human cerebral organoids to assess key components of early neurogenesis in Rett Syndrome (Conference Presentation)

Science.gov (United States)

Yildirim, Murat; Feldman, Danielle; Wang, Tianyu; Ouzounov, Dimitre G.; Chou, Stephanie; Swaney, Justin; Chung, Kwanghun; Xu, Chris; So, Peter T. C.; Sur, Mriganka

2017-02-01

Rett Syndrome (RTT) is a pervasive, X-linked neurodevelopmental disorder that predominantly affects girls. It is mostly caused by a sporadic mutation in the gene encoding methyl CpG-binding protein 2 (MeCP2).The clinical features of RTT are most commonly reported to emerge between the ages of 6-18 months and implicating RTT as a disorder of postnatal development. However, a variety of recent evidence from our lab and others demonstrates that RTT phenotypes are present at the earliest stages of brain development including neurogenesis, migration, and patterning in addition to stages of synaptic and circuit development and plasticity. We have used RTT patient-derived induced pluripotent stem cells to generate 3D human cerebral organoids that can serve as a model for human neurogenesis in vitro. We aim to expand on our existing findings in order to determine aberrancies at individual stages of neurogenesis by performing structural and immunocytochemical staining in isogenic control and MeCP2-deficient organoids. In addition, we aim to use Third Harmonic Generation (THG) microscopy as a label-free, nondestructive 3D tissue visualization method in order to gain a complete understanding of the structural complexity that underlies human neurogenesis. As a proof of concept, we have performed THG imaging in healthy intact human cerebral organoids cleared with SWITCH. We acquired an intrinsic THG signal with the following laser configurations: 400 kHz repetition rate, 65 fs pulse width laser at 1350 nm wavelength. In these THG images, nuclei are clearly delineated and cross sections demonstrate the depth penetration capacity (< 1mm) that extends throughout the organoid. Imaging control and MeCP2-deficient human cerebral organoids in 2D sections reveals structural and protein expression-based alterations that we expect will be clearly elucidated via both THG and three-photon fluorescence microscopy.

Mass spectrometry protein expression profiles in colorectal cancer tissue associated with clinico-pathological features of disease

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Liao Christopher CL

2010-08-01

Full Text Available Abstract Background Studies of several tumour types have shown that expression profiling of cellular protein extracted from surgical tissue specimens by direct mass spectrometry analysis can accurately discriminate tumour from normal tissue and in some cases can sub-classify disease. We have evaluated the potential value of this approach to classify various clinico-pathological features in colorectal cancer by employing matrix-assisted laser desorption ionisation time of-flight-mass spectrometry (MALDI-TOF MS. Methods Protein extracts from 31 tumour and 33 normal mucosa specimens were purified, subjected to MALDI-Tof MS and then analysed using the 'GenePattern' suite of computational tools (Broad Institute, MIT, USA. Comparative Gene Marker Selection with either a t-test or a signal-to-noise ratio (SNR test statistic was used to identify and rank differentially expressed marker peaks. The k-nearest neighbours algorithm was used to build classification models either using separate training and test datasets or else by using an iterative, 'leave-one-out' cross-validation method. Results 73 protein peaks in the mass range 1800-16000Da were differentially expressed in tumour verses adjacent normal mucosa tissue (P ≤ 0.01, false discovery rate ≤ 0.05. Unsupervised hierarchical cluster analysis classified most tumour and normal mucosa into distinct cluster groups. Supervised prediction correctly classified the tumour/normal mucosa status of specimens in an independent test spectra dataset with 100% sensitivity and specificity (95% confidence interval: 67.9-99.2%. Supervised prediction using 'leave-one-out' cross validation algorithms for tumour spectra correctly classified 10/13 poorly differentiated and 16/18 well/moderately differentiated tumours (P = P = P = 0.001; ROC error, 0.212. Conclusions Protein expression profiling of surgically resected CRC tissue extracts by MALDI-TOF MS has potential value in studies aimed at improved molecular

Achados bucais e laboratoriais em pacientes com lúpus eritematoso sistêmico Oral and laboratorial findings in patients with systemic lupus erythematosus

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Antonio Augusto Umbelino Júnior

2010-12-01

Full Text Available INTRODUÇÃO: O lúpus eritematoso sistêmico (LES é uma doença inflamatória crônica caracterizada por manifestações clínicas variadas. Os poucos trabalhos existentes na literatura relatam uma prevalência entre 6,5% e 21% de acometimento bucal. OBJETIVO: Investigar os achados bucais e laboratoriais em pacientes com LES. MATERIAL E MÉTODO: Foram analisados 155 pacientes com diagnóstico de LES, segundo critérios do American College of Rheumatology (ACR. O índice de dentes cariados, perdidos e obturados (CPO-D foi registrado e avaliou-se a necessidade de tratamento periodontal por meio do índice periodontal comunitário (IPC. Foram realizados esfregaços e biópsias das lesões e bordas laterais de língua para exames citopatológicos. Exames laboratoriais foram correlacionados com os achados bucais destes pacientes. RESULTADOS: Dos 155 pacientes, 94,1% eram mulheres. Altos níveis de anticorpos circulantes (FAN-Hep2 foram observados em todos os pacientes, sendo 41,9% positivos para a pesquisa de anticorpos anti-DNA de fita dupla. O índice CPO-D médio correspondeu a 18,5 e de acordo com o IPC, 18% apresentaram bolsas periodontais de 4-5 mm e 5,9% de 6 mm ou mais. Foram biopsiadas oito lesões bucais, mas somente três casos foram considerados compatíveis com a indicação clínica de LES. Os principais sítios acometidos foram dorso de língua, mucosa jugal e lábios. A prevalência de candidíase correspondeu a 20,1% e a de leucoplasia pilosa oral a 3,7%. CONCLUSÃO: Pacientes com LES apresentam condição periodontal precária e baixa prevalência de lesões bucais e, além disso, a citopatologia mostrou-se importante no diagnóstico de infecções relacionadas com imunossupressão, como candidíase e leucoplasia pilosa oral.INTRODUCTION: Systemic lupus erythematosus (SLE is a chronic inflammatory disease, which is characterized by several clinical manifestations. A few studies in the literature state estimated prevalence of 6

Hamartoma fibrolipomatoso e macrodistrofia lipomatosa: análise dos achados clínicos e de imagem em quatro casos, com revisão da literatura Fibrolipomatous hamartoma and macrodystrophia lipomatosa: imaging and clinical data analysis of four cases and review of the literature

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Rafael Darahem de Souza Coelho

2002-10-01

Full Text Available O hamartoma fibrolipomatoso neural e a macrodistrofia lipomatosa são doenças raras, com achados de imagem característicos. Radiografias simples, estudos de ressonância magnética e prontuários médicos de quatro pacientes foram revisados. Em um paciente, foi realizada cirurgia com confirmação histopatológica. Em três pacientes, os achados clínicos e de imagem foram considerados suficientes para o diagnóstico. Descrevemos dois casos de macrodistrofia lipomatosa isolada, um caso de hamartoma fibrolipomatoso do nervo mediano e um caso de coexistência das duas condições. As radiografias simples, nos casos de macrodistrofia lipomatosa, mostraram aumento difuso de partes moles e estruturas ósseas, com estrias radiotransparentes entremeadas às fibras musculares. Os dois casos de hamartoma fibrolipomatoso ocorreram no nervo mediano, com achados, à ressonância magnética, de fascículos nervosos espessados com baixo sinal nas imagens ponderadas em T1 e T2, com infiltração homogênea de gordura entre estes, aparecendo com alto sinal em T1 e baixo sinal em T2 com saturação de gordura. O aspecto do nervo aos cortes axiais é de "cabo coaxial". Nota-se extensão para a ramificação dos nervos, aspecto típico desta lesão. As características de imagem da macrodistrofia lipomatosa e do hamartoma fibrolipomatoso neural, principalmente pela ressonância magnética, permitiram o diagnóstico preciso destas condições freqüentemente coexistentes.Fibrolipomatous hamartoma of nerve and macrodystrophia lipomatosa are rare conditions that present characteristic imaging findings. The plain films, magnetic resonance imaging studies and medical records of four patients were reviewed. The lesion was resected in one patient allowing histological confirmation of the diagnosis. Diagnosis was based on imaging and clinical findings in three patients who had unavailable biopsy data. We describe two cases of isolated macrodystrophia lipomatosa, one

Brain MRI lesions in neuromyelitis optica: clinical case; Lesiones cerebrales de resonancia magnetica en neuromielitis optica: caso clinico

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Rosales Bravo, Luis Guillermo; Heyden Cordero, Marvin; Chinchilla Weinstok, Dennis; Mendelewicz Goldwaig, Isaias, E-mail: neurologia.cima@gmail.com [Caja Costarricense del Seguro Social, Hospital Mexico, Div. de Neurologia, San Jose (Costa Rica)

2011-10-15

Many cases of patients with neuromyelitis optica have submitted without demyelinating lesions in the cerebral white matter, it has documented that this entity can cause from the onset of illness or through its natural evolution. Diagnostic methods currently as Magnetic Resonance Imaging (MRI) and specific antibodies in plasma (such as antiaquaporin-4) have been diagnosed of neuromyelitis optica cases that were initially confused with multiple sclerosis. Disease in Costa Rica has been little prevalent and is not exactly known what the prevalence and incidence. The degree of disorder is illustrated through a case study, both in the cerebral white matter as spinal cord, in a patient with neuromyelitis optica during a follow-up period of 4 years. This is the first case that has been reported in the scientific literature of Costa Rica. (author) [Spanish] Muchos casos de pacientes con neuromielitis optica se han presentado sin lesiones desmielinizantes en la sustancia blanca cerebral, se ha documentado que esta entidad puede causarlas desde el inicio de la enfermedad o a traves de su evolucion natural. Los metodos de diagnostico en la actualidad como la Imagen por Resonancia Magnetica (IRM) y la determinacion de anticuerpos especificos en plasma (como la antiaquaporina-4) han logrado diagnosticar algunos casos de neuromielitis optica que inicialmente fueron confundidos con esclerosis multiple. La enfermedad en Costa Rica ha sido poco prevalente y no se ha conocido con exactitud cual es la prevalencia e incidencia. El grado de afeccion ha sido ilustrado a traves de un caso clinico, tanto en la sustancia blanca cerebral como espinal, en un paciente con neuromielitis optica durante un periodo de seguimiento de 4 anos. Este es el primer caso que ha sido reportado en la literatura cientifica de Costa Rica. (autor)

Den rette tale på det rette tidspunkt

DEFF Research Database (Denmark)

Hansen, Jette Barnholdt

2010-01-01

Artiklen har form som en teoretisk klumme, der gør rede for det klassiske retoriske begreb kairos ved hjælp af eksempler fra kendte taler fra det 20. årh.......Artiklen har form som en teoretisk klumme, der gør rede for det klassiske retoriske begreb kairos ved hjælp af eksempler fra kendte taler fra det 20. årh....

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Science.gov (United States)

Maortua, Hiart; Martínez-Bouzas, Cristina; García-Ribes, Ainhoa; Martínez, María-Jesus; Guillen, Encarna; Domingo, María-Rosario; Calvo, María-Teresa; Guitart, Miriam; Gabau, Elisabeth; Botella, María-Pilar; Gener, Blanca; Rubio, Izaskun; López-Aríztegui, María-Asunción; Tejada, María-Isabel

2013-09-01

The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of mutations (sequencing of four exons and rearrangements) in 120 female patients: 28 with classic Rett syndrome, five with atypical Rett syndrome, and 87 with heterogeneous phenotypes with some Rett-like features. Another 120 female patients with intellectual disability of unknown origin were also studied, but in these cases we only tested exons 3 and 4. Finally, 861 healthy controls (519 females and 342 males) were also studied for exon 3 and 4. Eighteen different pathological mutations were found, five of them previously undescribed, and four large deletions detected by multiplex ligation-dependent probe amplification. All were de novo mutations not present in the parents. In conclusion, i) MECP2 is one of the most important genes in the diagnosis of genetic intellectual disability in females; ii) MECP2 must be studied not only in patients with classical/atypical Rett syndrome but also in patients with other phenotypes related to Rett syndrome; and iii) for the new variants, it is important to perform complementary studies, including the analysis of large populations of healthy individuals and the use of in silico programs. Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Achados histeroscópicos em mulheres na pós-menopausa com diagnóstico de espessamento endometrial por ultra-sonografia transvaginal Hysteroscopic findings in postmenopausal women with endometrial thickening diagnosed by transvaginal ultrasound

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Adriana Bittencourt Campaner

2004-02-01

Full Text Available OBJETIVO: correlacionar espessamento endometrial diagnosticado por ultra-sonografia com os achados histeroscópicos, em mulheres na pós-menopausa. MÉTODOS: foi realizado estudo transversal com avaliação histeroscópica em 121 mulheres na pós-menopausa, com diagnóstico de espessamento do endométrio por ultra-sonografia transvaginal. Das pacientes incluídas, 23 (19% recebiam diferentes esquemas de hormonioterapia e 98 não referiam uso de reposição hormnonal.; 55 pacientes queixavam-se de sangramento por via vaginal e as restantes apresentavam-se sem esta condição. Os exames endoscópicos foram realizados ambulatorialmente, utilizando-se histeroscópio rígido de 4 mm. Para a distensão da cavidade uterina empregou-se gás carbônico (CO2. Biópsia foi praticada em todas as pacientes, com auxílio de cureta tipo Novak, de 3 mm, e o material obtido submetido a estudo histopatológico. RESULTADOS: a espessura do endométrio variou entre 6 e 38 mm, com média de 10,7 ± 5,3 mm. Os achados histeroscópicos foram: lesão polipóide, em 51 pacientes (42,1%; endométrio atrófico, em 15 (12,4%; sinéquia senil, em 15 (12,4%; espessamento focal, em 13 (10,7%; lesão cerebróide, em 6 (5,0%; endométrio proliferativo, em 5 (4,1%; muco, em 5 (4,1%; mioma, em 4 (3,3%; endométrio secretor, em 3 (2,5%; hiperplasia endometrial, em 3 (2,5% e atrofia cística, em 1 (0,8%. Observou-se correlação entre os achados histeroscópicos e os resultados da histopatologia em 30 dos 51 casos de pólipo, em 12 dos 15 de endométrio atrófico e na totalidade dos casos sugestivos de hiperplasia endometrial e de adenocarcinoma. CONCLUSÃO: na maioria das pacientes, o exame histeroscópico revelou que não se tratava de real espessamento endometrial, mas sim de outras variedades de lesão da cavidade uterina.PURPOSE: to correlate endometrial thickening diagnosed by ultrasonography with hysteroscopic findings in postmenopausal women. METHODS: a transversal study

Achados da neuroimagem em transtorno de estresse pós-traumático e suas implicações clínicas Posttraumatic stress disorder neuroimaging findings and their clinical implications

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Julio Fernando Prieto Peres

2005-07-01

Full Text Available Estudos com neuroimagem vêm replicando alguns achados relevantes ao entendimento de anormalidades neuroanatômicas, estruturais e funcionais associadas ao transtorno de estresse pós-traumático (TEPT. A dificuldade em sintetizar, categorizar e integrar a memória traumática em uma narrativa pode estar relacionada à relativa diminuição do volume e ativação do hipocampo, à diminuição na atividade do córtex pré-frontal, do cíngulo anterior e da área de Broca. O mecanismo deficiente de extinção da resposta ao medo e à desregulação emocional estão possivelmente relacionados à menor atividade cortical pré-frontal, implicado na atenuação do feedback negativo da atividade da amígdala. Tais memórias traumáticas não-hipocampo/pré-frontal dependentes são involuntariamente acessadas, apresentam-se fragmentadas sensorialmente, sem estrutura narrativa desenvolvida e tendem a permanecer com expressão emocional intensa e sensações vívidas. Processos psicoterapêuticos, baseados em exposição e reconstrução cognitiva, podem estimular as faculdades cognitivas e integrativas do encéfalo correspondentes às estruturas encontradas como deficitárias em indivíduos com TEPT. Nessa perspectiva, a memória poderá perder intensidade emocional, ser cognitivamente mais organizada e ainda, esvaecer-se com o tempo. Outras implicações dos achados da neuroimagem são discutidas no âmbito psicoterapêutico, assim como, as perspectivas de futuros estudos com neuroimagem no Brasil.Neuroimaging findings have been replicating some findings important to understanding structural and functional abnormalities associated with posttraumatic stress disorder (PTSD. The impairment in synthesizing, categorizing, and integrating a traumatic memory into a narrative may be related to a relative decrease in hippocampus volume and activation, and a decrease in activity of the prefrontal cortex, anterior cingulate, and Broca's area. The deficient

Health status of the elderly population among four primitive tribes of Orissa, India: a clinico-epidemiological study.

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Kerketta, A S; Bulliyya, G; Babu, B V; Mohapatra, S S S; Nayak, R N

2009-02-01

Primitive tribal groups (PTGs) are the most marginalised and vulnerable communities in India. Clinico-epidemiological studies on morbidity patterns among the elderly primitive tribe members are essential to recommend special intervention programmes to improve the health of the elderly in these communities. A community-based cross-sectional study was carried out among the elderly populations of four different PTGs, namely Langia Saora (LS), Paudi Bhuiyan (PB), Kutia Kondh (KK) and Dongria Kondh (DK) living in the forests of Orissa, India. Clinical and anthropometric data were collected using standard methods and haemoglobin was estimated by the cyanomethaemoglobin method. The average number of illnesses per person was 3.0. Common disabilities like vision and hearing impairment and mobility-related problems were found in considerable numbers. Gastrointestinal problems like acid peptic disease were found among 2.6% to 20% of cases. Non-specific fever was marked in 10.2% to 24.2% of individuals. The iodine deficiency disorder, namely goitre, was found among 4.2% to 6.0% of individuals. Diseases of the respiratory tract, like upper and lower respiratory tract infection, asthma, tuberculosis and leprosy, were found in small numbers. The prevalence of hypertension among males and females was 31.8% and 42.2%, respectively. The LS had the highest prevalence of hypertension (63% among men and 68% among women). With regard to anaemia status, severe anaemia was marked in 70% of males and 76.7% of females in the LS, while in other groups the prevalence of severe anaemia ranged from 15% to 33%. Although the prevalence of severe anaemia in other tribal communities is lower than in the LS, mild to moderate anaemia was found to range from 60% to 80%. The present study revealed a high prevalence of physical disabilities with both non-communicable as well as communicable diseases among the elderly primitive tribal members. This warrants the implementation of a special health care

Validation of the prognostic gene portfolio, ClinicoMolecular Triad Classification, using an independent prospective breast cancer cohort and external patient populations.

Science.gov (United States)

Wang, Dong-Yu; Done, Susan J; Mc Cready, David R; Leong, Wey L

2014-07-04

Using genome-wide expression profiles of a prospective training cohort of breast cancer patients, ClinicoMolecular Triad Classification (CMTC) was recently developed to classify breast cancers into three clinically relevant groups to aid treatment decisions. CMTC was found to be both prognostic and predictive in a large external breast cancer cohort in that study. This study serves to validate the reproducibility of CMTC and its prognostic value using independent patient cohorts. An independent internal cohort (n = 284) and a new external cohort (n = 2,181) were used to validate the association of CMTC between clinicopathological factors, 12 known gene signatures, two molecular subtype classifiers, and 19 oncogenic signalling pathway activities, and to reproduce the abilities of CMTC to predict clinical outcomes of breast cancer. In addition, we also updated the outcome data of the original training cohort (n = 147). The original training cohort reached a statistically significant difference (p value of the triad classification was reproduced in the second independent internal cohort and the new external validation cohort. CMTC achieved even higher prognostic significance when all available patients were analyzed (n = 4,851). Oncogenic pathways Myc, E2F1, Ras and β-catenin were again implicated in the high-risk groups. Both prospective internal cohorts and the independent external cohorts reproduced the triad classification of CMTC and its prognostic significance. CMTC is an independent prognostic predictor, and it outperformed 12 other known prognostic gene signatures, molecular subtype classifications, and all other standard prognostic clinicopathological factors. Our results support further development of CMTC portfolio into a guide for personalized breast cancer treatments.

Cerebrovascular disorders in childhood: etiology, clinical presentation, and neuroimaging findings in a case series study Acidente vascular cerebral na infância: etiologia, apresentação clínica e achados de neuroimagem em um estudo de série de casos

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André P.C. Matta

2006-06-01

Full Text Available OBJECTIVE: To describe the main etiologies, neurological manifestations and neuro-imaging findings among children with sequelae of cerebrovascular disorders. METHOD: Case series study of children whose diagnosis was stroke sequelae. Variables studied were age at the time of first episode, number of episodes, etiology, motor deficits, epilepsy, and effected vascular territory. RESULTS: Twenty three patients were studied. Average age at first episode was 6.91 (±2.08 years. Fourteen patients were female. The number of stroke events per patient ranged from one to five. The most frequent etiologies were heart disease and sickle cell anemia. The most frequent neurological deficit was right hemiparesis. Nine patients experienced seizures. The left middle cerebral artery was the most affected vascular area. CONCLUSION: Our findings are similar to those described in the literature. Despite a careful investigation, some causes of stroke remain unidentified.OBJETIVO: Descrever as principais etiologias, manifestações neurológicas e achados de neuroimagem entre crianças com seqüela de acidente vascular cerebral (AVC. MÉTODO: Estudo de série de casos de crianças com seqüela de AVC isquêmico ou hemorrágico, analisando-se as variáveis: idade no primeiro episódio, número de eventos, etiologia, déficit motor, epilepsia e território vascular acometido. RESULTADO: Vinte e três pacientes foram incluídos, sendo 14 do sexo feminino. A idade do primeiro episódio foi 6.91 (±2,08 anos. O número de eventos por paciente variou entre 1 e 5. As etiologias mais freqüentes foram cardiopatia e anemia falciforme. O déficit mais encontrado foi a hemiparesia direita. Nove pacientes apresentaram convulsões. A artéria cerebral média esquerda foi o território vascular mais afetado. COCLUSÃO: Os achados deste trabalho estão de acordo com a literatura em geral. Apesar de extensa investigação, alguns casos permanecem sem definição etiológica.

Cerebellar liponeurocytoma: a newly recognized clinico-pathological entity Liponeurocitoma cerebelar: uma nova entidade clínico-patológica

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Nádia Montagna

2002-09-01

Full Text Available The term "cerebellar liponeurocytoma", recently adopted by the World Health Organization Working Group (WHO, replaced many other different terms used up to now to give name to this rare tumor. To our knowledge, less than 20 cases have been related up to now under different names like as "lipomatous medulloblastoma, lipidized medulloblastoma, neurolipocytoma, medullocytoma and lipomatous glioneurocytoma". The new nomenclature eliminates the word "medulloblastoma", reinforces its benign caracter, and includes it in the category of glioneuronal tumors. We describe an adictional case of this distinct clinico-pathological entity removed from the right cerebellar hemisphere of a 53-year-old woman. With the present case report, we hope to contribute to the knowledge on the diagnostic and prognostic implications derived from the finding of mature adipose-like tissue within a medulloblastomatous tumour.O termo "liponeurocitoma cerebelar" recentemente adotado pela Organização Mundial de Saúde (Classificação de Tumores Cerebrais - versão 2000, surgiu em substituição a vários outros utilizados até então, para denominar esta rara neoplasia. De nosso conhecimento há na literatura menos de 20 casos relatados sob termos diferentes tais como "meduloblastoma lipomatoso, meduloblastoma lipidizado, neurolipocitoma, medulocitoma e glioneurocitoma lipomatoso". A nova nomenclatura elimina a palavra "meduloblastoma", enfatiza seu caráter benigno e o coloca na categoria dos tumores glioneuronais. Descrevemos mais um caso desta rara entidade clínico-patológica, ressecada do hemisfério cerebelar direito em uma mulher de 53 anos. Com este caso esperamos contribuir para o melhor conhecimento sobre o diagnóstico, prognóstico e possibilidades terapêuticas advindas da presença de tecido adiposo em tumor meduloblastomatoso de adultos.

Avaliação dos achados ao exame dos potenciais evocados do tronco cerebral em indivíduos com síndrome de West Evaluation of the brainstem evoked potentials in West syndrome

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Alfredo Lopes Pereira Filho

2004-01-01

Full Text Available A síndrome de West é um tipo de espasmo infantil caracterizado por encefalopatia epiléptica associado a espasmos em flexão e deficiência mental de instalação no primeiro ano de vida e de etiologia incerta. Acredita-se ser determinada por diferentes fatores etiológicos como infeção intrauterina, esclerose tuberosa, asfixia perinatal ou afecções pós-natais. FORMA DE ESTUDO: Observacional coorte com corte transversal. MATERIAL E MÉTODO: No presente estudo dez pacientes com Síndrome de West foram submetidos ao exame de Potencial Evocado de Tronco Cerebral (BERA para avaliar o envolvimento do tronco cerebral e das vias auditivas a este nível. RESULTADO: Os achados anormais ao BERA incluem alteração na morfologia das curvas com reprodutibilidade apenas de onda I e II, (caso 7, aumento do intervalo interpico da onda I-V (casos 1, 2 e 9, aumento da proporção de amplitude da onda I/V (caso 8 e alteração do limiar eletrofisiológico (caso 7. Tais achados ao BERA sugerem que a disfunção do sistema nervoso resulte principalmente da hipogênese ou degeneração das células nervosas, em parte como resultado da dismielinização. CONCLUSÃO: Os autores recomendam o uso de estudos eletrofisiológicos para avaliar a disfunção do sistema nervoso central no paciente com suspeita de espasmo infantil.The West syndrome is a pediatric disease that involves muscular spasm, mental deficiency and epileptic encephalopathy. This disease tends to be noticed in the first year of life and has no etiology known. It is believed to be caused by different etiology factors as uterine infection, tuberous sclerosis, perinatal asphyxia, or post-born diseases. STUDY DESIGN: Observacional cohort with transversal cut. MATERIAL AND METHOD: In this study, ten West Syndrome patients were submitted to Auditory Brainstem Response (ABR to evaluate the involvement of the hearing system. RESULTS: The abnormal results consisted in morphological alterations (case 7

Corpo perdido, Corpo achado

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Marcela Arpes

2008-06-01

Full Text Available La intención del presente trabajo es la de examinar qué tipo de apropiaciones y puesta en circulación realiza el arte, específicamente el teatro, de las diversas representaciones sociales del cuerpo. Nos detendremos en varios textos dramáticos del ciclo que ya lleva seis años de edición conocido en la Argentina como Teatro por la Identidad. Teatro por la Identidad es una propuesta estética surgida de la Asociación Abuelas de Plaza de Mayo con el fin de recuperar las identidades, aún no recobradas, de los hijos apropiados durante la dictadura militar de 1976. El teatro se presenta entonces como la alternativa estética y política privilegiada para inquietar e inquirir sobre las identidades de cada uno de los que asisten a las representaciones. El cuerpo adquiere un espacio de densa significación en esta propuesta teatral ya que la ficción hace presentes los cuerpos “desaparecidos” del pasado encarnándolos en los “cuerpos sin órganos”, corporeidades en grado cero de los “hijos” arrebatados, para restituirles la identidad perdida. El planteo teórico excede en mucho el trabajo sobre la noción de individualidad, ya que el cuerpo se presenta como medio de conocimiento histórico y social al articular cuerpo individual y cuerpo social en una lógica de implicancia necesaria.

Dermoscopic findings in female androgenetic alopecia Achados dermatoscópicos na alopecia androgenética feminina

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Lya Duarte Ramos

2012-10-01

dermatoscópio no aumento de 10x e câmera digital no aumento de 20x e 40x na linha média frontal do couro cabeludo. RESULTADOS: Todas as pacientes apresentaram miniaturização dos fios na área examinada. Halo castanho peripilar foi encontrado em 22 pacientes, pigmentação em favo de mel em 14 e pontos amarelos em apenas 1 paciente. Estudos recentes mostram a dermatoscopia como uma nova ferramenta no auxílio diagnóstico e acompanhamento do tratamento das desordens do couro cabeludo. Em nosso estudo utilizamos um dermatoscópio comum e avaliamos vários achados relatados na literatura com facilidade e clareza significativas. CONCLUSÃO: O dermatoscópio, instrumento de uso diário dos dermatologistas, é excelente ferramenta para auxílio no diagnóstico precoce e avaliação da resposta terapêutica na alopecia androgenética e é capaz de mostrar de forma simples sinais precoces de miniaturização capilar.

Follicular red dots: a normal trichoscopy feature in patients with pigmentary disorders? Pontos vermelhos foliculares: um achado tricoscópico normal em pacientes com distúrbios da pigmentação?

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Rodrigo Pirmez

2013-06-01

Full Text Available Follicular red dots have been described as a trichoscopic feature of active discoid lupus erythematosus of the scalp and its presence associated with a better prognosis. We report five patients with pigmentary disorders in whom follicular red dots were detected during scalp examination. We suggest that this pattern is probably related to the rich vasculature that naturally envelops the normal hair follicle. The possible implications of such proposition in cases of discoid lupus erythematosus and other scalp disorders are also discussed.Pontos vermelhos foliculares foram descritos como achado tricoscópico de lupus eritematoso discóide do couro cabeludo em atividade e a presença destes associado a melhor prognóstico. Relatamos cinco pacientes com distúrbios da pigmentação nos quais pontos vermelhos foliculares foram detectados ao exame do couro cabeludo. Sugerimos que este padrão está provavelmente relacionado à rica vascularização que naturalmente envolve o folículo piloso normal. As possíveis implicações desta suposição nos casos de lupus eritematoso discóide e outras doenças do couro cabeludo também são discutidas.

Clinical phenotype of 5 females with a CDKL5 mutation.

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Stalpers, Xenia L; Spruijt, Liesbeth; Yntema, Helger G; Verrips, Aad

2012-01-01

Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor visual, language, and motor development. However, these patients do not meet the consensus criteria for Rett syndrome since they lack the clear period of regression. Furthermore, in contrast to Rett syndrome, patients with CDKL5 mutations, have seizures or infantile spasms starting in the first weeks of life. We present clinical phenotype of 5 girls having a mutation in the CDKL5 gene. All mutations are novel and are pathogenic since they either lead to a frameshift in the reading frame or affect a consensus splice site. Four of the mutations are detected de novo in the affected girl.

Síndrome de Möbius: achados clínicos e cirúrgicos em 7 pacientes Möbius syndrome: clinical and surgical findings in 7 patients

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Galton Carvalho Vasconcelos

2001-06-01

Full Text Available Objetivo: Avaliar o quadro clínico, as anormalidades gestacionais e de parto e os resultados na cirurgia de estrabismo em pacientes com síndrome de Möbius. Métodos: Foram estudados, retrospectivamente, 7 pacientes com diagnóstico de síndrome de Möbius, dos quais 6 foram submetidos à cirurgia de estrabismo. Resultados: Além dos achados clássicos que caracterizam a síndrome, em todos os casos estudados observaram-se alterações gestacionais ou de parto. Em 2 pacientes encontrou-se no per-operatório, inserção posteriorizada do reto medial. Graças à fixação cruzada, esses pacientes geralmente não desenvolvem ambliopia. Conclusão: A cirurgia, quando indicada, deve constar apenas dos retrocessos musculares e acredita-se que o planejamento cirúrgico deva ser menor do que o feito em casos de paralisia isolada do nervo abducente de mesmo valor.Purpose: To evaluate clinical features, pregnancy and labour abnormalities and the results of strabismus surgery in patients with Möbius syndrome. Methods: The authors studied retrospectively 7 patients with Möbius syndrome, of whom 6 were submitted to strabismus surgery. Results: In addition to the classical findings that characterize the syndrome, pregnancy and labour insults were observed in all cases. In 2 patients a posterior medial rectus insertion was found during surgery. Due to cross-fixation, these patients usually do not develop amblyopia. Conclusions: Surgery should consist of muscle recessions, but recessing them less than it would be done for similar isolated abducens palsy.

Bronchial asthma: correlation of high resolution computerized tomography findings with clinical data; Asma bronquica: correlacao de achados em tomografia computadorizada de alta resolucao com dados clinicos

Energy Technology Data Exchange (ETDEWEB)

Mogami, Roberto [Universidade do Estado, Rio de Janeiro, RJ (Brazil). Servico de Radiologia; Marchiori, Edson [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia; Kirk, Kennedy; Capone, Domenico [Universidade do Estado, Rio de Janeiro, RJ (Brazil). Servico de Pneumologia; Daltro, Pedro [Instituto Fernandes Figueira, Rio de Janeiro, RJ (Brazil). Servico de Radiologia

1999-04-01

In this work we did a sectional study of 31 asthmatic patients with several levels of disease severity, which were submitted to high resolution computed tomography of the thorax and spirometry, between the months of July, 1995 and August, 1997. The tomographic findings were correlated with the clinical classification of the patients and the most frequent tomographic findings were bronchial wall thickening, bronchial dilatation, air trapping, centrilobular opacities, cicatricial linear shadows, mucoid impaction, emphysema and atelectasis. In asthmatic patients of long duration we observed small airway disease and irreversible lesions as the predominant findings. In smoking patients there was no high frequency of emphysema. (author)

Det Spirituelle Menneske

DEFF Research Database (Denmark)

Viftrup, Dorte Toudal

2010-01-01

Bøn, meditation, ritualer og kirkegang har ikke monopol som adgangsveje for det spirituelle menneske. Den åndelige søgen kan rette sig mange steder hen – også i de situationer, hvor psykologen inddrages.......Bøn, meditation, ritualer og kirkegang har ikke monopol som adgangsveje for det spirituelle menneske. Den åndelige søgen kan rette sig mange steder hen – også i de situationer, hvor psykologen inddrages....

The Historically Black Colleges and Universities/Minority Institutions Environmental Technology Consortium annual report, 1991--1992

Energy Technology Data Exchange (ETDEWEB)

NONE

1992-12-31

The member institutions of the Consortium continue to play a significant role in increasing the number of African Americans who enter the environmental professions through the implementation of the Consortium`s RETT Plan for Research, Education, and Technology Transfer. The four major program areas identified in the RETT Plan are as follows: (1) minority outreach and precollege education; (2) undergraduate education and postsecondary training; (3) graduate and postgraduate education and research; and (4) technology transfer.

Achados eletrocardiográficos em pacientes com doença renal crônica em hemodiálise

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Luís Henrique Bignotto

2012-09-01

Full Text Available INTRODUÇÃO: A doença cardiovascular é a principal causa de mortalidade de pacientes em hemodiálise. Quando consideradas todas as causas de morte, aproximadamente 30% são classificadas como parada cardíaca, morte de causa desconhecida ou arritmia cardíaca. O prolongamento do tempo de despolarização e repolarização ventriculares, medido pela aferição do intervalo QT no eletrocardiograma de repouso, tem emergido como preditor de arritmias ventriculares complexas, uma importante causa de morte súbita cardíaca. OBJETIVOS: Determinar as alterações eletrocardiográficas presentes em pacientes sob hemodiálise (HD, aferir o intervalo QT e sua relação com variáveis clínicas e laboratoriais. MÉTODOS: Pacientes com idade acima de 18 anos em programa de hemodiálise foram abordados para participarem do estudo, e após anuência, foram submetidos ao exame de eletrocardiograma de 12 derivações. Dados clínicos foram revisados para avaliar a presença de comorbidades, além da aferição de medidas antropométricas e da pressão arterial. Amostras de sangue foram coletadas para determinação da hemoglobina e níveis séricos de cálcio, fósforo e de potássio. RESULTADOS: Cento e setenta e nove pacientes foram incluídos no estudo. A maioria era do sexo masculino (64,8% e da raça branca (54,7%; a idade média foi de 58,5 ± 14,7 anos. Aproximadamente 50% dos pacientes apresentaram ao menos um distúrbio de condução elétrica. Cerca de 50% apresentaram prolongamento do intervalo QTc e experimentaram aumento significativo na frequência de hipertrofia ventricular esquerda (HVE, alterações do ritmo cardíaco, bloqueios de ramo e mais baixos índices de massa corporal (IMC, quando comparados aos pacientes com intervalo QTc normal. CONCLUSÕES: Pacientes com doença renal crônica (DRC em hemodiálise apresentam elevada frequência de achados eletrocardiográficos anormais, incluindo alta prevalência de pacientes com intervalo QTc

A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome

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Miriam Kron

2014-09-01

Full Text Available Reduced levels of brain-derived neurotrophic factor (BDNF are thought to contribute to the pathophysiology of Rett syndrome (RTT, a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2. In Mecp2 mutant mice, BDNF deficits have been associated with breathing abnormalities, a core feature of RTT, as well as with synaptic hyperexcitability within the brainstem respiratory network. Application of BDNF can reverse hyperexcitability in acute brainstem slices from Mecp2-null mice, suggesting that therapies targeting BDNF or its receptor, TrkB, could be effective at acute reversal of respiratory abnormalities in RTT. Therefore, we examined the ability of LM22A-4, a small-molecule BDNF loop-domain mimetic and TrkB partial agonist, to modulate synaptic excitability within respiratory cell groups in the brainstem nucleus tractus solitarius (nTS and to acutely reverse abnormalities in breathing at rest and during behavioral arousal in Mecp2 mutants. Patch-clamp recordings in Mecp2-null brainstem slices demonstrated that LM22A-4 decreases excitability at primary afferent synapses in the nTS by reducing the amplitude of evoked excitatory postsynaptic currents and the frequency of spontaneous and miniature excitatory postsynaptic currents. In vivo, acute treatment of Mecp2-null and -heterozygous mutants with LM22A-4 completely eliminated spontaneous apneas in resting animals, without sedation. Moreover, we demonstrate that respiratory dysregulation during behavioral arousal, a feature of human RTT, is also reversed in Mecp2 mutants by acute treatment with LM22A-4. Together, these data support the hypothesis that reduced BDNF signaling and respiratory dysfunction in RTT are linked, and establish the proof-of-concept that treatment with a small-molecule structural mimetic of a BDNF loop domain and a TrkB partial agonist can acutely reverse abnormal breathing at rest and in response to

Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation.

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D'Annessa, Ilda; Gandaglia, Anna; Brivio, Elena; Stefanelli, Gilda; Frasca, Angelisa; Landsberger, Nicoletta; Di Marino, Daniele

2018-05-01

Mutations in the X-linked MECP2 gene represent the main origin of Rett syndrome, causing a profound intellectual disability in females. MeCP2 is an epigenetic transcriptional regulator containing two main functional domains: a methyl-CpG binding domain (MBD) and a transcription repression domain (TRD). Over 600 pathogenic mutations were reported to affect the whole protein; almost half of missense mutations affect the MBD. Understanding the impact of these mutations on the MBD structure and interaction with DNA will foster the comprehension of their pathogenicity and possibly genotype/phenotype correlation studies. Herein, we use molecular dynamics simulations to obtain a detailed view of the dynamics of WT and mutated MBD in the presence and absence of DNA. The pathogenic mutation Y120D is used as paradigm for our studies. Further, since the Y120 residue was previously found to be a phosphorylation site, we characterize the dynamic profile of the MBD also in the presence of Y120 phosphorylation (pY120). We found that addition of a phosphate group to Y120 or mutation in aspartic acid affect domain mobility that samples an alternative conformational space with respect to the WT, leading to impaired ability to interact with DNA. Experimental assays showing a significant reduction in the binding affinity between the mutated MBD and the DNA confirmed our predictions. Copyright © 2018 Elsevier B.V. All rights reserved.

Clinico-radiological profile and outcome of dengue patients with central nervous system manifestations: A case series in an Eastern India tertiary care hospital

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Souren Pal

2016-01-01

Full Text Available Background and Objective: Dengue, an acute viral disease, transmitted by Aedes mosquitoes, has a variable clinical spectrum ranging from asymptomatic infection to life-threatening dengue hemorrhagic fever and dengue shock syndrome. However, neurological complications, in general, are unusual but have been observed more frequently in the recent past, and some studies highlighted varied neurological complications during the course of illness. Although dengue is classically considered a nonneurotropic virus, there is increasing evidence for dengue viral neurotropism. In this study, we have evaluated clinico-radiological profile and outcome of nine serologically confirmed dengue patients having varied manifestations of central nervous system (CNS involvement. Materials and Methods: All the consecutive patients presented with neurological complications with positive serology for dengue infection (IgM positivity in Department of Medicine, in a tertiary care hospital in Eastern India from August 2013 to October 2014 were included in the study. These patients were subjected to a detailed clinical evaluation, laboratory assessment including complete hemogram, coagulation profile, liver function test, serum electrolytes, and routine CSF (Cerebrospinal Fluid study with the exclusion of other common neuroinvasive pathogens. Results: Out of 9 patients with neurological complications associated with confirmed dengue infection, 2 (22% patients had dengue encephalopathy, 5 (56% patients have dengue encephalitis, 1 (11% patient had dengue meningitis, and 1 (11% patient had postdengue immune-mediated CNS involvement. Conclusion: This case series reaffirms the occurrence of varied CNS manifestations in dengue virus infection and underlines the importance of inclusion of dengue in the differential diagnosis of acute encephalitis syndrome.

Mass spectrometry protein expression profiles in colorectal cancer tissue associated with clinico-pathological features of disease

International Nuclear Information System (INIS)

Liao, Christopher CL; Ward, Nicholas; Marsh, Simon; Arulampalam, Tan; Norton, John D

2010-01-01

Studies of several tumour types have shown that expression profiling of cellular protein extracted from surgical tissue specimens by direct mass spectrometry analysis can accurately discriminate tumour from normal tissue and in some cases can sub-classify disease. We have evaluated the potential value of this approach to classify various clinico-pathological features in colorectal cancer by employing matrix-assisted laser desorption ionisation time of-flight-mass spectrometry (MALDI-TOF MS). Protein extracts from 31 tumour and 33 normal mucosa specimens were purified, subjected to MALDI-Tof MS and then analysed using the 'GenePattern' suite of computational tools (Broad Institute, MIT, USA). Comparative Gene Marker Selection with either a t-test or a signal-to-noise ratio (SNR) test statistic was used to identify and rank differentially expressed marker peaks. The k-nearest neighbours algorithm was used to build classification models either using separate training and test datasets or else by using an iterative, 'leave-one-out' cross-validation method. 73 protein peaks in the mass range 1800-16000Da were differentially expressed in tumour verses adjacent normal mucosa tissue (P ≤ 0.01, false discovery rate ≤ 0.05). Unsupervised hierarchical cluster analysis classified most tumour and normal mucosa into distinct cluster groups. Supervised prediction correctly classified the tumour/normal mucosa status of specimens in an independent test spectra dataset with 100% sensitivity and specificity (95% confidence interval: 67.9-99.2%). Supervised prediction using 'leave-one-out' cross validation algorithms for tumour spectra correctly classified 10/13 poorly differentiated and 16/18 well/moderately differentiated tumours (P = < 0.001; receiver-operator characteristics - ROC - error, 0.171); disease recurrence was correctly predicted in 5/6 cases and disease-free survival (median follow-up time, 25 months) was correctly predicted in 22

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

OpenAIRE

Fehr, Stephanie; Wilson, Meredith; Downs, Jenny; Williams, Simon; Murgia, Alessandra; Sartori, Stefano; Vecchi, Marilena; Ho, Gladys; Polli, Roberta; Psoni, Stavroula; Bao, Xinhua; de Klerk, Nick; Leonard, Helen; Christodoulou, John

2012-01-01

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of...

The impact of having a sibling with an intellectual disability: parental perspectives in two disorders.

Science.gov (United States)

Mulroy, S; Robertson, L; Aiberti, K; Leonard, H; Bower, C

2008-03-01

The potential effects on other children when there is a child with intellectual disability (ID) in the family are being increasingly recognized. This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents. The parents of 186 Western Australian children with Down syndrome and 141 Australian girls and women with Rett syndrome participated in the study. Patterns of reporting disadvantages and/or benefits were compared across a number of child and family variables (age, functional ability and birth order of the affected child, number of siblings and number of parents in the family home) and by socio-economic status as measured by the index of relative socio-economic disadvantage and by area of residence. Parents' responses to open-ended questions about the benefits and/or disadvantages for siblings of their child were analysed for themes. The majority of parents in the Rett syndrome and Down syndrome groups reported both disadvantages and benefits for siblings. In the Rett syndrome group, families from outer regional areas were the least likely to mention disadvantages and those with a smaller family more likely to note disadvantages. In both groups, more socio-economically advantaged families were more likely to report disadvantages. In the Down syndrome group, benefits were also more commonly reported by parents who were socio-economically advantaged, and by larger and two-parent families. Major disadvantages for siblings centred around parental and personal time constraints, relationships and socializing, restrictions, parental emotion and burden of helping. Major benefits were related to personality characteristics. Parents identified both benefits and disadvantages to the siblings of their child with either Rett syndrome or Down syndrome. It is important that these findings are incorporated into any discussion around the impact on the family of a child diagnosed with an ID.

Enfermedad de Hodgkin: nuevos conceptos clínico-patológicos Hodgkin´s disease: new clinico-pathologic features

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José René Mesa Cuervo

2000-04-01

Full Text Available La enfermedad de Hodgkin, considerada una neoplasia linfoide, se clasifica en 5 grupos a partir de la conferencia de Rye en 1966. La variedad esclerosis nodular es la más frecuente, afecta generalmente regiones supradiafragmáticas y se divide en 2 grados, con características morfológicas y pronósticas diferentes. El grado II, de mal pronóstico, exige formas de tratamiento más agresivas. La celularidad mixta suele tener mayor diseminación de la enfermedad y junto a la esclerosis nodular, se catalogan como formas clásicas de la enfermedad, con positividad para los marcadores inmunofenotípicos CD15 y CD30. El predominio linfocítico se considera un linfoma de células del centro germinal y emerge como entidad clínicopatológica diferente. La depleción linfocítica se diagnostica con baja frecuencia y tiene un pronóstico desfavorable. El diagnóstico diferencial con linfomas no hodgkinianos no siempre es posible y actualmente se señala que la delimitación entre ambos tipos de linfomas no está bien definida. El grupo no clasificado tiende a desaparecerHodgkin´s disease, considered a lymphoid neoplasia, is classified in 5 groups, since Rye Conference in 1960. Nodular sclerosis variety is commonest, generally involve supradiaphragmatic regions and is divided in two grades with distinct morphologic ant prognostic features. Grade II of badly prognosis demand a more aggresive treatment. Mixed cellularity ussualy has a greater disease spreading level and joined with nodular sclerosis, are classified as classic forms of disease, positive to immunophenotypical markers, CD15 and CD30. Lymphocytic predominance is to be considered as a cell lymphoma of germinal center and emerge as a distinct clinico-pathologic entity with a unfavourable prognosis. Differential diagnosis in non-Hodgkin´s lymphomas, unusually is possible and at present, delimitation between both types of lymphoma, es not well defined. Non classified group have a tendency to

Oral findings in patients with Apert Syndrome Achados bucais em pacientes com Síndrome de Apert

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Gisele da Silva Dalben

2006-12-01

Full Text Available INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both. Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.INTRODUÇÃO: A síndrome de Apert é um distúrbio raro de herança autossômica dominante causado por mutações no lócus 10q26 do gene FGFR2; pacientes com esta síndrome apresentam sindactilia severa, exoftalmia, hiperteleorbitismo e hipoplasia da face média com má oclusão de Classe III, além de alterações sistêmicas. A maior parte dos estudos disponíveis sobre a síndrome de Apert aborda o aspecto genético ou manejo cirúrgico, com pouca ênfase nos aspectos bucais. OBJETIVO: investigar os achados bucais, incluindo anomalias dentárias, irrup

Radionuclide esophageal transit test to detect esophageal disorders in patients with mitral valve prolapse

International Nuclear Information System (INIS)

Kao Chiahung; Tsai Shihchuan; Hsieh Jihfang; Ho Yungjen; Ding Hueischjy

2000-01-01

Aim: The origin of chest discomfort in patients with mitral valve prolapse (MVP) is controversial. Our aim was to prospectively determine the incidence of esophageal disorders in MVP patients with or without chest pain. Methods: Twenty-five MVP patients with chest pain (group A) and 25 MVP patients without chest pain (group B) underwent evaluation of esophageal motility. None of the total of 50 MVP patients had significant coronary artery disease on cardiac catheterization. Esophageal motility including esophageal mean transit time (MTT), residual fraction (RF), and retrograde index (RI) was analyzed by the radionuclide esophageal transit test (RETT). Results: In comparison with 25 age and sex-matched healthy volunteers, the results showed that: (1) 19 patients in group A (76%) had abnormal RETT findings (48% of cases with prolonged MTT, 44% of cases with higher RF, and 60% of cases with higher RI); (2) 3 patients in group B (12%) had abnormal RETT findings (8% of cases with prolonged MTT, 4% of cases with higher RF, and 8% of cases with higher RI). In addition, mean values of MTT, RF, and RI in group A patients were significantly higher than in group B patients and healthy volunteers. Conclusion: We found that the chest pain in some MVP patients may be related to abnormal esophageal motility, based on the evidence from a simple and noninvasive RETT. (orig.) [de

Relação entre achados em neuroimagem, habilidades auditivas e metafonológicas em escolares com dislexia do desenvolvimento Relationship between neuroimaging findings and auditory and metaphonological abilities in students with developmental dyslexia

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Giseli Donadon Germano

2009-01-01

Full Text Available OBJETIVO: Relacionar as habilidades auditivas, metafonológicas e de neuroimagem em escolares com dislexia do desenvolvimento e comparar os achados dessas habilidades em escolares com bom desempenho acadêmico. MÉTODOS: Participaram deste estudo 20 escolares, sendo dez com diagnóstico interdisciplinar de dislexia do desenvolvimento e dez com bom desempenho acadêmico, submetidos a avaliações audiológica, do processamento auditivo e de consciência fonológica. Os escolares com dislexia do desenvolvimento foram submetidos a exame de imagem (SPECT. RESULTADOS: Os resultados indicaram diferença estatisticamente significante entre as habilidades auditivas de sequência para sons verbais, mensagem competitiva ipsi e contralateral, dicótico de dígitos e dissílabos alternados e habilidades de síntese, segmentação, manipulação e transposição fonêmica. Entre os escolares com dislexia do desenvolvimento, evidenciou-se hipoperfusão da porção mesial do lobo temporal. CONCLUSÃO: Os achados deste estudo evidenciaram correlação entre provas de memória auditiva e manipulação silábica e fonêmica e associação entre habilidades auditivas e fonológicas, sugerindo que os processos auditivos interferem diretamente na percepção de aspectos acústicos, temporais e sequenciais dos sons para formação de uma representação fonológica estável, e que isto pode ser decorrente da presença de alterações de fluxo sanguíneo no lobo temporal.PURPOSE: To correlate auditory and metaphonological abilities and neuroimaging in students with developmental dyslexia, and to compare these findings to those obtained with students with good academic performance. METHODS: Twenty children participated in this study: ten with an interdisciplinary diagnostic of developmental dyslexia, and ten students with good academic performance. All subjects carried out audiologic, auditory processing and phonological awareness evaluations. The students with

Achados macroscópicos e histológicos no processo de cicatrização de lesões por inalação

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A. Anakawa

2008-07-01

Full Text Available Resumo: A broncofibroscopia possui um papel no diagnóstico e terapêutica das lesões iniciais do sistema respiratório, secundárias a queimaduras e inalação de fumo. Poucos trabalhos têm descrito as lesões da árvore brônquica encontradas na fase tardia pós-inalação.Os autores deste artigo investigaram as alterações histopatológicas da traqueia e brônquios na fase inicial e tardia pós-inalação. Cinco doentes sobreviventes a queimaduras e lesão da árvore brônquica por inalação foram avaliados, numa fase inicial e tardia através de broncofibroscopia, com realização de biópsias da mucosa. Numa fase tardia e apesar de a mucosa traqueobrônquica se apresentar praticamente recuperada macroscopicamente, persiste a nível histológico a invasão por células inflamatórias e dilatação dos capilares na região subepitelial. Nos casos de lesão por inalação com queimadura grave, o edema pulmonar e brônquico tornam-se mais prolongados, assim como o aumento das secreções brônquicas.Nalguns doentes, a produção exagerada e contínua de secreções brônquicas ocasiona quadros de obstrução e atelectasia. Os autores referem ainda que os achados broncoscópicos e histológicos encontrados na fase de cicatrização podem possuir um papel preditivo a longo prazo na função pulmonar dos doentes sobreviventes. Consideram ainda que a limpeza agressiva da árvore brônquica, com remoção de partículas estranhas inaladas e das secreções, é útil na redução da resposta inflamatória e obstrutiva pós lesão inalatória.

Linfoadenopatia transitória secundária à síndrome nefrótica

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Olívia Meira Dias

2012-05-01

Full Text Available Linfadenomegalias mediastinais secundárias a hipervolemia são achados tomográficos subdiagnosticados. Descrevemos neste paciente com função cardíaca normal, achados de congestão pulmonar associados a alargamento dos linfonodos mediastinais. A síndrome nefrótica causando hipoalbuminemia, baixa pressão oncótica plasmática e aumento da pressão transcapilar foi a causa provável dos achados radiológicos.

Epilepsy in Rett syndrome--lessons from the Rett networked database

DEFF Research Database (Denmark)

Nissenkorn, Andreea; Levy-Drummer, Rachel S; Bondi, Ori

2015-01-01

collected. Statistical analysis was done using the IBM SPSS Version 21 software, logistic regression, and Kaplan-Meier survival curves. RESULTS: Epilepsy was present in 68.1% of the patients, with uncontrolled seizures in 32.6% of the patients with epilepsy. Mean age of onset of epilepsy was 4...

Prevalência e achados epidemiológicos, anatomopatológicos e imuno-histoquímicos dos tumores hepáticos malignos primários de cães da Região Central do Rio Grande do Sul (1965-2012

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Mariana M. Flores

2013-04-01

Full Text Available A prevalência e os aspectos epidemiológicos, anatomopatológicos e imuno-histoquímicos dos tumores hepáticos malignos primários (THMP em cães foram estudados. De 7.373 cães necropsiados em 48 anos (1965-2012, 64 morreram de THMP, o que corresponde a 0,9% do total de cães que morreram por qualquer causa, 7,8% do total de cães que morreram por tumores em geral e 33,5% do total de cães que morreram por tumores hepáticos. Desses 64 casos de THMP, 51 foram revistos histologicamente, avaliados imuno-histoquimicamente e reclassificados como carcinomas (colangiocarcinomas [n=36], carcinomas hepatocelulares [n=9] e hepatocolangiocarcinoma [n=1] e sarcomas (hemangiossarcomas [n=5]. Dos cães com colangiocarcinomas e carcinomas hepatocelulares em que a idade estava disponível nos protocolos, 64,7% e 77,8% eram idosos, respectivamente. Na necropsia, colangiocarcinomas caracterizaram-se principalmente por ocorrerem em um padrão multinodular (83,3%, enquanto carcinomas hepatocelulares ocorreram tanto de forma massiva (44,4% quanto nodular (44,4%. Metástases extra-hepáticas foram vistas em 77,8% e 33,3% dos casos de colangiocarcinomas e carcinomas hepatocelulares, respectivamente, e em relação aos colangiocarcinomas afetaram principalmente pulmões (52,8%, linfonodos (50% e peritônio (19,4%. Ascite (22,2% e icterícia (22,2% foram achados associados ocasionalmente com ambos os tumores. Na histologia, a maior parte dos colangiocarcinomas (86,1% e dos carcinomas hepatocelulares (55,6% tinha padrão tubular e trabecular, respectivamente. Na imuno-histoquímica, a maioria (63,9% dos colangiocarcinomas demonstrou imunomarcação para CK7 e nenhum imunomarcou para Hep Par 1. A maioria (55,6% dos carcinomas hepatocelulares demonstrou imunomarcação para Hep Par 1 e nenhum imunomarcou para CK7. Os resultados aqui apresentados demonstram uma altíssima prevalência de THMP, principalmente colangiocarcinomas, e servem para auxiliar, através dos

Achados de fala, deglutição e qualidade de vida na mielinólise extrapontina: relato de caso de uma adolescente com germinoma do sistema nervoso central

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Kaliani Lima Coça

Full Text Available RESUMO O presente trabalho é um relato de caso que descreve os achados fonoaudiológicos e de qualidade de vida apresentados por uma adolescente com um tumor do sistema nervoso central acometida pela mielinólise extrapontina. A mielinólise extrapontina é uma doença desmielinizante aguda que pode ser causada por variações abruptas na osmolaridade sérica, como o que ocorre na rápida correção da hiponatremia. Os dados foram obtidos a partir da avaliação clínica fonoaudiológica, de questionários pediátricos sobre a qualidade de vida e dados contidos no prontuário médico. A paciente apresentou mutismo, disartria e disfagia decorrentes da mielinólise extrapontina, com impactos significativos na sua comunicação verbal, alimentação e qualidade de vida. Os escores de qualidade de vida após a mielinólise extrapontina apresentaram piora quando comparados aos do período anterior à doença. Recebeu atendimento fonoaudiológico hospitalar e ambulatorial. Foram observadas evoluções nos padrões de fala, deglutição e mobilidade das estruturas orofaciais, com reversão parcial dos déficits neurológicos. A atuação fonoaudiológica, como parte de uma equipe multiprofissional de saúde, é de grande importância na reabilitação funcional dos pacientes acometidos por esta doença.

Refluxo laringofaringeano: estudo prospectivo correlacionando achados laringoscópicos precoces com a phmanometria de 24 horas de 2 canais Laringopharingeal reflux: prospective study that compare early laryngoscopic finds and 2 channel and 24 hours esophageal testing

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O. Marambaia

2002-08-01

Full Text Available Introdução: Manifestações laríngeas do refluxo gastro-esofágico são problemas cada vez mais comuns. Estudos revelam alta associação com sensação de "globus", rouquidão crônica e com tosse crônica. Seu diagnóstico e tratamento diferem da clássica doença do refluxo gastro-esofágico. Os achados à endoscopia laríngea de hiperemia e edema de estruturas glóticas, espessamento do espaço interaritenóideo, granulomas, pólipos, edema de Reinke, estenose subglótica sugerem uma investigação diagnóstica completa através da pHmanometria de 24 horas, exame de maior sensibilidade e especificidade. Objetivo: correlacionar achados clínicos e laringoscópicos precoces sugestivos de refluxo gastro-esofágico com resultados da pHmanometria de 24 horas. Avaliar terapia medicamentosa e modificações dietéticas. Forma de estudo: Clínico prospectivo. Material e Método: pacientes adultos com queixas crônicas: tosse seca, "globus", sialorréia, disfonia, pigarro, halitose e engasgos. Foram excluídos pacientes com outras patologias de vias aéreas. Endoscopia laríngea descartava aqueles que apresentassem lesões laríngeas mais avançadas. Encaminhamento à pHmanometria e iniciado tratamento clínico. Resultados: 83,6% apresentaram refluxo patológico. Sintomas mais freqüentes: disfonia (72,5%, pigarro (60,8%, tosse (29,4%, "globus" (23,5% e sialorréia (19,6%. Associação de sintomas: dois (67,4%; três (41,2% e quatro (21,5%. 49 pacientes iniciaram tratamento com omeprazol (20 mg e dieta: 83,7% cursaram com melhora dos sintomas após 6 meses. Em 95,9% dos pacientes tratados houve melhora laringoscópica. Conclusões: Houve uma correlação importante entre história clínica e endoscopia laríngea com achados à pHmanometria de 24 horas. Outros estudos poderão fortalecer a telescopia laríngea para o diagnóstico do refluxo laringofaríngeo e seu acompanhamento. É necessária abordagem multidisciplinar, além de um aumento do grau

Síndrome de Sweet: estudo de 73 casos, com ênfase nos achados histopatológicos Sweet's syndrome: study of 73 cases, emphasizing histopathological findings

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Mayra Carrijo Rochael

2011-08-01

Full Text Available FUNDAMENTOS: A síndrome de Sweet corresponde a um conjunto de alterações cutâneas, sistêmicas e histopatológicas como resposta a diversos estímulos, semelhantes ao eritema nodoso, ao eritema multiforme e à vasculite leucocitoclásica. São descritas condições associadas como infecção, gravidez, uso de drogas e malignidades. OBJETIVOS: Avaliar as alterações clínicas e histopatológicas da síndrome, relacionando-a a outras condições. MÉTODO: Estudo retrospectivo de 73 casos com avaliação microscópica de lesões cutâneas, dados clínicos e laboratoriais. RESULTADOS: Houve predomínio de mulheres (83,0%, brancas (49,2%, entre a quarta e a sexta décadas de vida (73,8%. Placas eritematosas (76,9%, pápulas (43,0%, pseudovesiculação (PV (38,4% e lesões em alvo (18,5% foram as principais alterações. Entre as condições associadas, infecções de vias aéreas (15,4% e uso de drogas (10,8% foram as mais frequentes. Outras associações, representadas por um caso cada, foram: linfoma de Hodgkin, gravidez, colite ulcerativa, policitemia vera e lúpus eritematoso em paciente com Aids. Neutrófilos com leucocitoclasia (98,6%, degeneração do colágeno (87,7%, edema (74,0% e PV (38,4% foram os principais achados microscópicos. Eosinófilos estiveram presentes (41,1% de raros a abundantes e, em geral, não relacionados ao uso de drogas. O infiltrado inflamatório atingiu a derme profunda em 47,9% das vezes e encontrou-se paniculite em 80,0% dos casos nos quais a hipoderme estava representada (10 casos. CONCLUSÕES: Os achados, de modo geral, coincidem com os da literatura, destacando-se: frequente participação de eosinófilos sem correlação com a ingestão de medicamentos, paniculite e rara associação com linfoma de Hodgkin, sendo este o quinto relato de tal ocorrência, segundo o conhecimento dos autores.BACKGROUND: Sweet's syndrome refers to a set of cutaneous, systemic and histopathological alterations that occur in

Clinico-Pathological Profile and Outcomes of Patients with Polycythaemia Vera, Essential Thrombocythaemaia and Idiopathic Myelofibrosis: A Tertiary Care Center Experience from Southern Pakistan

International Nuclear Information System (INIS)

Shaikh, M. S.; Shaikh, M. U.; Adil, S. N.; Ahmed, Z. A.; Khurshid, M.

2016-01-01

Background: The P hiladelphia Negative Classic Myeloproliferative Neoplasms include polycythaemia vera (PV), essential thrombocythaemia (ET) and idiopathic myelofibrosis (IMF). These three disorders share several clinical and laboratory features including JAK2 V617F mutation. Our objectives were to determine the clinico-pathological profile and outcomes of Pakistani patients with polycythaemia vera (PV), essential thrombocythaemia (ET) and idiopathic myelofibrosis (IMF) in order to have an insight regarding behaviour of these conditions. Methods: A retrospective analysis of all the cases of PV, ET and IMF diagnosed at our institute from January 1995 to December 2013 was performed. Age, gender, clinical presentation, laboratory investigations, treatment provided and duration of follow-up were included for analysis. Appropriate statistics were utilized for calculation of data. Results: A total of 58 patients were diagnosed as PV, ET or IMF during the study period. Male to female ratio was 1.1:1. Forty five percent (n=27) patients came to medical attention due to abnormal laboratory results, 3 had cerebrovascular events, 3 had pruritus, and 1 patient each with gangrene and Budd-Chiari syndrome. Haemorrhage was not seen in any patient. Sixty percent (n=35) patients were treated with phlebotomy, hydroxyurea and aspirin alone or in combination. None of the patients transformed to myelofibrosis (MF) or myelodysplasia (MDS) during the mean (±SD) follow-up period of 57.2±50 months. One patient with ET transformed to acute myeloid leukaemia 9 years after the diagnosis. Conclusions: This study demonstrated a relatively more benign form of PV, ET and IMF with lesser frequency of symptoms, good response to treatment and less likelihood of transformation to MF, MDS or AML. (author)

Clinico-pathological features and prognosis of invasive micropapillary carcinoma compared to invasive ductal carcinoma: a population-based study from China.

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Wen-Biao Shi

Full Text Available Invasive micropapillary carcinoma (IMPC of the breast is a rare subtype of breast cancer that is associated with a high incidence of regional lymph node metastases and a poor clinical outcome. However, the clinico-pathological features and prognostic factors of IMPC are not well understood.A total of 188 IMPC cases and 1,289 invasive ductal carcinoma (IDC cases were included. The clinical features, breast cancer-specific survival (BCSS and recurrence/metastasis-free survival (RFS of the patients were compared between these two groups.The IMPC patients exhibited more features of aggressive carcinoma than the IDC patients, including larger tumor size, higher tumor stage, a greater proportion of nodal involvement and an increased incidence of lymphovascular invasion. Patients with IMPC had lower 5-year BCSS and RFS rates (75.9% and 67.1%, respectively than patients with IDC (89.5% and 84.5%, respectively. Compared to IDC patients, the patients with IMPC had a significantly higher percentage of stage III breast cancer (51.3% versus 21.7%. In a stage-matched Kaplan-Meier analysis, the patients with stage III IMPC had lower 5-year BCSS and RFS rates than patients with stage III IDC (BCSS, P = 0.004; RFS, P = 0.034. A multivariate analysis revealed that TNM stage was an independent prognostic factor for patients with IMPC. The proportion of cancers with a luminal-like subtype was significantly higher in IMPC than in IDC (P<0.001. However, after matching by molecular subtype, the patients with IMPC had significantly worse clinical outcomes than patients with IDC.In Chinese women, IMPCs displayed more aggressive behaviors than IDCs, resulting in poorer clinical outcomes for patients with IMPC, regardless of a favorable molecular subtype. Our findings illustrate that the poorer survival of patients with IMPC might be due to an increased incidence and aggressiveness of tumors in TNM stage III.

Du er god nok! Litteraturstudie om tilrettelegging av mestring for elever med dysleksi.

OpenAIRE

Loktu, Thea Amanda Hansen

2017-01-01

Bacheloroppgave, grunnskolelærerutdanning, 2017. Norsk: Temaet for oppgaven er mestring og dysleksi og omhandler hvorfor og til dels hvordan en særlig skal legge til rette for mestring hos elever med dysleksi. Oppgaven er fundert i både et samfunnsmessigperspektiv og et individperspektiv. Bacheloren søker å finne de momentene som påvirker læring for denne gruppen, med fokus på det helhetlige mennesket. Problemstillingen lyder slik: Hvorfor legge særlig til rette for mestring hos elever ...

Acute movement disorder with bilateral basal ganglia lesions in diabetic uremia

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Gurusidheshwar M Wali

2011-01-01

Full Text Available Acute movement disorder associated with symmetrical basal ganglia lesions occurring in the background of diabetic end stage renal disease is a recently described condition. It has distinct clinico-radiological features and is commonly described in Asian patients. We report the first Indian case report of this potentially reversible condition and discuss its various clinico-radiological aspects.

Achados clínico-laboratoriais de uma série de casos com endocardite infecciosa Clinical and laboratory findings in a series of cases of infective endocarditis

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Carla A.Z. Pereira

2003-10-01

Full Text Available OBJETIVO: Descrever os achados clínico-laboratoriais da endocardite infecciosa (EI em 28 crianças, em Vitória/ES. MÉTODO: Estudo retrospectivo dos prontuários de 28 crianças, com idade abaixo de 18 anos e diagnóstico de endocardite infecciosa, internadas no serviço de infectologia do Hospital Infantil Nossa Senhora da Glória, em Vitória - Espírito Santo, no período de janeiro de 1993 a dezembro de 2001. Os critérios para diagnóstico de endocardite infecciosa foram os do Duke Endocarditis Service (Duke University, Durham, North Carolina - USA: critérios maiores (hemoculturas e ecocardiograma positivos e critérios menores (febre, doença cardíaca prévia, sopro cardíaco recente, fenômenos vasculares e imunológicos. Através de protocolo específico, preenchido pelos médicos-residentes e acadêmicos do serviço de infectologia, e revisados pelos médicos da equipe, foram anotadas as idades, sexo, achados clínicos e laboratoriais, e os resultados da ecocardiografia transtorácica das 28 crianças que preenchiam os critérios clínicos e laboratoriais. Em todos os casos, as hemoculturas foram realizadas com coleta do sangue (três amostras, sob condições assépticas e com inoculação em meios aeróbicos e anaeróbicos, incubados a uma temperatura de 37ºC e testados com sistema automatizado Vitec System® (Biolab. RESULTADOS: Das 28 crianças, 16 eram do sexo masculino, com idade entre 3 e 180 meses (média 70,6±59,2 m, e a maioria (68% era procedente da região metropolitana de Vitória. Metade apresentava cardiopatia prévia. Os achados clínicos mais freqüentes que levaram à suspeita de EI foram: febre prolongada (100%, sopro cardíaco (67,9%, dispnéia (57,1%, hepatomegalia (57,1%, fenômenos vasculares (32,2%, esplenomegalia (28,6% e nódulos de Osler (7,1%. Foram colhidas hemoculturas dos 28 casos, sendo 16 (57,1% positivas. O S. aureus adquirido na comunidade foi o germe mais freqüentemente isolado (9

Ultrasound and magnetic resonance imaging findings in Schistosomiasis mansoni: expanded gallbladder fossa and fatty hilum signs Achados da ultrassonografia e da ressonância magnética na esquistossomose mansônica: sinais da expansão da fossa da vesícula e do hilo gorduroso

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Luciana Cristina dos Santos Silva

2012-08-01

Full Text Available INTRODUCTION: There is no study relating magnetic resonance imaging (MRI to ultrasound (US findings in patients with Schistosomiasis mansoni. Our aim was to describe MRI findings inpatients with schistosomal liver disease identified by US. METHODS: Fifty-four patients (mean age 41.6±13.5years from an area endemic for Schistosomiasis mansoni were selected for this study.All had US indicating liver schistosomal fibrosis and were evaluated with MRI performed witha 1.5-T superconducting magnet unit (Sigma. RESULTS: Forty-seven (87% of the 54 patientsshowing signs of periportal fibrosis identified through US investigation had confirmed diagnosesby MRI. In the seven discordant cases (13%, MRI revealed fat tissue filling in the hilar periportalspace where US indicated isolated thickening around the main portal vein at its point of entryto the liver. We named this the fatty hilum sign. One of the 47 patients with MRI evidence ofperiportal fibrosis had had his gallbladder removed previously. Thirty-five (76.1% of the other46 patients had an expanded gallbladder fossa filled with fat tissue, whereas MRI of the remainingeleven showed pericholecystic signs of fibrosis. CONCLUSIONS: Echogenic thickening of thegallbladder wall and of the main portal vein wall heretofore attributed to fibrosis were frequentlyidentified as fat tissue in MRI. However, the gallbladder wall thickening shown in US (expandedgallbladder fossa in MRI is probably secondary to combined hepatic morphologic changes inschistosomiasis, representing severe liver involvement.INTRODUÇÃO: Não existem estudos que correlacionam os achados da ressonância magnética (RM aos da ultrassonografia (US em pacientes com esquistossomose mansônica. O objetivodeste estudo foi descrever os achados da imagem por RM em pacientes com doença hepática esquistossomótica identificada por US. MÉTODOS: Selecionaram-se 54 pacientes com idade média de 41,6±13,5 anos, provenientes de área endêmica para a

Análisis bibliométrico de la influencia de la Genética en enfermedades raras, a partir de las bases de datos Pubmed y SCI (2000-2009

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Serrano-López, Antonio Eleazar

2013-12-01

Full Text Available This work focuses on the bibliometric analysis of journal articles published about two rare diseases that produce mental and behavioural disorders: Rett Syndrome and CADASIL, during the period 2000-2009. Furthermore, although Rett mainly affects females and the causes of both diseases are very different, they have in common that both are genetic disorders. To carry out the analysis we used two databases, Medline and SCI --each with its advantages and biases but complementary to each other-- together with a multidimensional analysis methodology in order to determine the relationship between output about these rare diseases and the advances in the field of Genetics. The results show a clear difference in research patterns for the two diseases, but a convergence on a common factor, genetic influence, although this is more pronounced in the Rett syndrome. Finally it concludes that the great milestones in the field of genetics, both specific (mutations in genes that cause disease and general (the human genome sequencing, significantly affect the scientific activity surrounding these rare diseases.Este trabajo se centra en el análisis bibliométrico de los artículos de revista publicados sobre dos enfermedades raras que generan trastornos mentales y del comportamiento: CADASIL y Síndrome de Rett, durante el periodo 2000- 2009. Además, aunque el Rett afecta fundamentalmente al género femenino y las causas de ambas enfermedades son muy diferentes, tienen en común que en ambos casos se trata de trastornos con un origen genético. Para llevar a cabo el análisis se utilizaron dos bases de datos, Medline y SCI y una metodología de análisis multidimensional que permitiera determinar la relación existente entre la producción en estas enfermedades raras y los avances en el campo de la Genética. Los resultados encontrados muestran una clara diferenciación en los patrones de investigación en ambas enfermedades, aunque confluyen en un factor com

Refluxo laringofaringeano: estudo prospectivo correlacionando achados laringoscópicos precoces com a pHmanometria de 24 horas de 2 canais Laringopharingeal reflux: prospective study that compare early laryngoscopic finds and 2 channel and 24 hours esophageal testing

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O. Marambaia

Full Text Available Introdução: Manifestações laríngeas do refluxo gastro-esofágico são problemas cada vez mais comuns. Estudos revelam alta associação com sensação de "globus", rouquidão crônica e com tosse crônica. Seu diagnóstico e tratamento diferem da clássica doença do refluxo gastro-esofágico. Os achados à endoscopia laríngea de hiperemia e edema de estruturas glóticas, espessamento do espaço interaritenóideo, granulomas, pólipos, edema de Reinke, estenose subglótica sugerem uma investigação diagnóstica completa através da pHmanometria de 24 horas, exame de maior sensibilidade e especificidade. Objetivos: correlacionar achados clínicos e laringoscópicos precoces sugestivos de refluxo gastro-esofágico com resultados da pHmanometria de 24 horas. Avaliar terapia medicamentosa e modificações dietéticas. Forma de estudo: clínico prospectivo randomizado. Método: 61 pacientes adultos com queixas crônicas: tosse seca, "globus", sialorréia, disfonia, pigarro, halitose e engasgos. Foram excluídos pacientes com outras patologias de vias aéreas. Endoscopia laríngea descartava aqueles que apresentassem lesões laríngeas mais avançadas. Encaminhamento à pHmanometria e iniciado tratamento clínico. Resultados: 83,6% apresentaram refluxo patológico. Sintomas mais freqüentes: disfonia (72,5%, pigarro (60,8%, tosse (29,4%, "globus" (23,5% e sialorréia (19,6%. Associação de sintomas: dois (67,4%; três (41,2% e quatro (21,5%. 49 pacientes iniciaram tratamento com omeprazol (20 mg e dieta: 83,7% cursaram com melhora dos sintomas após 6 meses. Em 95,9% dos pacientes tratados houve melhora laringoscópica. Conclusões: Houve uma correlação importante entre história clínica e endoscopia laríngea com achados à pHmanometria de 24 horas. Outros estudos poderão fortalecer a telescopia laríngea para o diagnóstico do refluxo laringofaríngeo e seu acompanhamento. É necessária abordagem multidisciplinar, além de um aumento do

Broncopneumopatias a vírus: análise crítica de alterações histológicas encontradas no estudo de afecções respiratórias não bacterianas na infância

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Albanita Viana de Oliveira

1973-01-01

Full Text Available Os autores apresentam 69 casos de afecções respiratórias em crianças que atribuem a agentes não bacterianos, provavelmente virais. Usam para isto um critério clínico, outro morfológico, em uma revisão de 372 pneumopatias infecciosas em casos de autópsias. Caracterizaram morfologicamente a resposta à agressão viral pela presença de: infiltrado mononuclear intersticial, predominantemente peribronquilar; alterações degenerativas ou mesmo necrose e hiperplasia do epitélio respiratório; membrana hialina; descamação epitelial; células gigantes sinciciais alveolares e bronquiolares; inclusões nucleares e citoplasmáticas; edema proteináceo alveolar e septal, proliferação intersticial conjuntiva incipiente. Criticam o erro por excesso de diagnósticos de "pneumonia mononuclear intesticial" e o erro por falta quando o acometimento bacteriano dificulta o diagnóstico de lesão atribuível a vírus. Além disso realçam a importância de achado de bonquiolite aguda como fundamental para o diagnóstico. Estas lesões - ao lado de achados clínicos-radiológicos e epidemiológicos - cosntituem o que a experiência adquirida julga como reação do pulmão a vários vírus conhecidos (Adenovírus, Influenza, Parainfluenza, Vírus Sincicial Respiratório e Sarampo.69 cases of respiratory diseases in children are presented and atributed to non-bacterial agents, probably viral. Using clinical and morphological criteria, a review of 372 cases of infections lung diseases was performed in autopsy material. The reaction due to the viral injury is characterized morphologically by interstitial mononuclear infiltration, mainly peribronchiolar; degenerative changes, necrosis and hyperplasia of the respiratory epithelium; hyaline membrane; epithelial desquamation; syncytial giant-cells, alveolar or bronquiolar; nuclear and cytoplasmic inclusions; proteinaceous edema, alveolar and septal; mild intersticial conective tissue proliferation. The

På rette spor

DEFF Research Database (Denmark)

Nielsen, Jakob Isak

2011-01-01

Nicolas Winding Refns Drive står på skuldrene af en righoldig filmhistorie. Lige fra filmens begyndelse, hvor titlens cyklamefarvede formskrift toner op på lærredet, genkalder man sig løbende genremæssige, stilistiske, fortællemæssige og tematiske lån. Men Drive er langt fra en citatsamling. Refn...... har formgivet materialet til en dybt original, humanistisk film, der bevæger sig hinsides ironi og pastiche – en historie om ”a real human being”, som man hører Electric Youth synge i filmens titelsang (”A Real Hero” af College feat. Electric Youth)...

Achados patológicos e imuno-histoquímicos em cães infectados naturalmente pelo vírus da cinomose canina Pathologic and immunohistochemistry findings in dogs naturally infected by canine distemper virus

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Luciana Sonne

2009-02-01

Full Text Available A cinomose canina é uma doença viral e afeta principalmente os sistemas respiratório, gastrintestinal e nervoso. Neste trabalho foram analisados os achados patológicos e imuno-histoquímicos de 54 cães com cinomose de um total de 760 cães necropsiados no período de julho de 2006 a outubro de 2007. As lesões macroscópicas observadas foram caracterizadas por corrimento ocular e nasal mucopurulentas, hiperqueratose dos coxins digitais, pulmões avermelhados e não colapsados, atrofia do timo, conteúdo intestinal diarréico e placas de Peyer proeminentes. Os achados histológicos caracterizavam-se principalmente por pneumonia intersticial, rarefação linfóide, desmielinização da substância branca, manguitos perivasculares e corpúsculos de inclusão intranucleares e intracitoplasmáticos, que se localizam principalmente na mucosa do estômago, epitélios da bexiga, brônquios e bronquíolos, pelve renal, coxins digitais, pálpebra, orelha e tonsila no sistema nervoso central e em células mononucleares dos linfonodos, baço e tonsilas. Os tecidos foram marcados pela técnica imuno-histoquímica utilizando anticorpo monoclonal anti-cinomose canina. O coxim digital foi o tecido com maior número de casos marcados positivamente (67,4% dos casos, seguido pelo estômago com 62,7%. A imuno-histoquímica mostrou ser uma ferramenta importante para o estudo da distribuição do antígeno em cães infectados pela cinomose bem como indicou o melhor tecido para a confirmação do diagnóstico de casos suspeitos.Canine distemper is a viral disease that affects mainly respiratory, gastrointestinal and nervous system. The present study analyzes pathologic and immunohistochemical findings in 54 dogs with canine distemper of a total of 760 canine necropsies performed from July 2006 to October 2007. The gross lesions were characterized by mucopurulent oculonasal discharge, hyperkeratosis of footpads, red and not collapsed lungs, thymic atrophy, watery

Epidemiological findings of ocular trauma in childhood Achados epidemiológicos do trauma ocular na infância

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Angelino Julio Cariello

2007-03-01

Full Text Available PURPOSE: To describe epidemiological findings of ocular trauma in childhood in an emergency unit. METHODS: A retrospective study was carried out including patients under 16 years old who were treated for ocular trauma at the emergency unit of the Federal University of São Paulo from September 2001 to September 2004. Age, sex, involved eye, place, circumstance and mechanism of injury, initial visual acuity and immediate management were recorded. RESULTS: A total of 273 patients were included in the study. The age group comprising most cases was 7 to 10 years (39.9%. The most frequent cause of ocular injury was traumatism by external agents like stone, iron and wood objects (27.9%. The commonest place was the home (53.1%. Initial visual acuity was over 20/40 in 63.4% of cases. Closed globe injury occurred in 201 (73.6% accidents. Seventy-six children (27. 8% were treated with medicines and in forty-eight (17.6% cases surgery was necessary. CONCLUSION: Ocular trauma in childhood was more frequent in the male schoolchild and was due mostly to traumatism with agents like stone, wood and iron pieces, domestic utensils and leisure objects. The injuries occurred most frequently at home. Closed globe injuries predominated. Programs of education and prevention for ocular trauma in childhood are necessary.OBJETIVO: Descrever os achados epidemiológicos do trauma ocular na infância em uma unidade de emergência. MÉTODOS: Em estudo retrospectivo, foram analisados prontuários de pacientes menores que 16 anos que foram atendidos por trauma ocular no Pronto-Socorro de Oftalmologia da Universidade Federal de São Paulo de setembro de 2001 a setembro de 2004. Foram coletadas informações a respeito da idade, sexo, olho envolvido, local, circunstância e mecanismo do trauma, acuidade visual inicial e conduta imediata. RESULTADOS: Um total de 273 pacientes foi incluído no estudo. A faixa etária com maior número de casos foi a de 7 a 10 anos (39,9%. A causa

A comparison of two emergency medical dispatch protocols with respect to accuracy.

Science.gov (United States)

Torlén, Klara; Kurland, Lisa; Castrén, Maaret; Olanders, Knut; Bohm, Katarina

2017-12-29

Emergency medical dispatching should be as accurate as possible in order to ensure patient safety and optimize the use of ambulance resources. This study aimed to compare the accuracy, measured as priority level, between two Swedish dispatch protocols - the three-graded priority protocol Medical Index and a newly developed prototype, the four-graded priority protocol, RETTS-A. A simulation study was carried out at the Emergency Medical Communication Centre (EMCC) in Stockholm, Sweden, between October and March 2016. Fifty-three voluntary telecommunicators working at SOS Alarm were recruited nationally. Each telecommunicator handled 26 emergency medical calls, simulated by experienced standard patients. Manuscripts for the scenarios were based on recorded real-life calls, representing the six most common complaints. A cross-over design with 13 + 13 calls was used. Priority level and medical condition for each scenario was set through expert consensus and used as gold standard in the study. A total of 1293 calls were included in the analysis. For priority level, n = 349 (54.0%) of the calls were assessed correctly with Medical Index and n = 309 (48.0%) with RETTS-A (p = 0.012). Sensitivity for the highest priority level was 82.6% (95% confidence interval: 76.6-87.3%) in the Medical Index and 54.0% (44.3-63.4%) in RETTS-A. Overtriage was 37.9% (34.2-41.7%) in the Medical Index and 28.6% (25.2-32.2%) in RETTS-A. The corresponding proportion of undertriage was 6.3% (4.7-8.5%) and 23.4% (20.3-26.9%) respectively. In this simulation study we demonstrate that Medical Index had a higher accuracy for priority level and less undertriage than the new prototype RETTS-A. The overall accuracy of both protocols is to be considered as low. Overtriage challenges resource utilization while undertriage threatens patient safety. The results suggest that in order to improve patient safety both protocols need revisions in order to guarantee safe emergency medical

Pineal yolk sac tumor: correlation between neuroimaging and pathological findings Tumor do seio endodérmico da pineal: correlação entre os achados patológicos e de neuroimagem

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Taísa Davaus

2007-06-01

Full Text Available A 17-year-old boy presented with somnolence and mental confusion. Physical examination demonstrated motor disturbances. Laboratorial investigation showed elevated levels of alpha-fetoprotein in serum and cerebrospinal fluid. The CT scan revealed a heterogeneous mass at the pineal region. At the MRI, this lesion was hypointense on T1 and hyperintense on T2-weighted images, enhancing after contrast administration. The patient underwent a surgical biopsy, which defined the diagnosis of yolk sac tumor. We emphasize the correlation of neuroimaging and pathological findings of this rare pineal region tumor.Um menino de 17 anos de idade apresentou-se com sonolência e confusão mental. O exame físico demonstrou distúrbios motores. A investigação laboratorial revelou aumento dos níveis de alfafetoproteína no soro e no líquor. A TC de crânio revelou massa heterogênea na região pineal. À RM, a lesão era hipointensa em T1 e hiperintensa em T2, com realce após a administração de contraste. O paciente foi submetido a biópsia cirúrgica, a qual definiu o diagnóstico de tumor do seio endodérmico. Enfatizamos a correlação entre os achados patológicos e de neuroimagem deste raro tumor da região pineal.

Correlation between the Doppler velocimetry findings of the uterine arteries during the first and second trimesters of pregnancy Correlação entre os achados doppplervelocimétricos das artérias uterinas no primeiro e segundo trimestres da gestação

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Adolfo Wenjaw Liao

2009-01-01

Full Text Available OBJECTIVES: Evaluate the feasibility of transvaginal uterine artery Doppler examination in the first and second trimesters of pregnancy, establish reference ranges in a Brazilian population and examine the correlation between these Doppler findings. METHODS: Longitudinal prospective study at the antenatal clinic of a tertiary teaching hospital. Uterine artery Doppler examinations were carried out transvaginally at 11 to 14 weeks and 20 to 25 weeks of gestation. Uterine artery mean pulsatility index (PI distributions were determined and the presence or absence of an early diastolic notch was also noted. The degree of correlation between first and second trimester Doppler findings was examined. RESULTS: Three hundred and forty four women with live singleton pregnancies and normal outcome were first examined at a mean gestation of 12.7 weeks. The values corresponding to the 50th and 95th centiles of mean PI were 1.69 and 2.48. Bilateral notches were observed in 44% of cases and unilateral notches were present in 19%. Second trimester Doppler examinations were carried out at a mean gestation of 23.2 weeks and corresponding figures for the 50th and 95th centiles were 1.03 and 1.57. Bilateral notches were noted in 4.4% of the cases. First trimester impedance indices were significantly higher and positively correlated to second trimester findings (r = 0.42, pOBJETIVO: Avaliar a aplicabilidade de realizar exames dopplervelocimétricos endovaginais das artérias uterinas no primeiro e segundo trimestres da gestação, definir valores normais na população brasileira e examinar a correlação entre esses achados. MÉTODOS: Estudo prospectivo longitudinal conduzido em Hospital Universitário Terciário. Os exames dopplervelocimétricos das artérias uterinas foram realizados pela via endovaginal, entre 11 a 14 semanas e 20 a 25 semanas de gestação. Em cada período gestacional estudado, a distribuição dos valores dos índices de pulsatilidade (IP m

Policitemia vera: a propósito de um caso clínico

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Joana Macedo

2015-06-01

Full Text Available A policitemia vera (PV é um transtorno mieloproliferativo das células hematopoiéticas, caracterizada por uma produção anormal e acentuada de eritrócitos, leucócitos e plaquetas. Outras características da doença incluem esplenomegalia, complicações trombo-hemorrágicas, distúrbios vasomotores, prurido e um pequeno risco de progressão da doença para leucemia mielóide aguda ou mielofibrose. A trombose é o sintoma de apresentação em 20% dos pacientes com PV. É uma doença rara, com uma incidência de 2,3/100.000 pessoas por ano, que é ainda mais incomum em crianças e adolescentes. É obrigatório o diagnóstico diferencial com as outras doenças mieloproliferativas. Caso clínico: Descreve-se o caso clínico de uma adolescente do sexo feminino, 14 anos de idade, referenciada à consulta de hematologia pediátrica por trombocitose. Os achados clínicos e analíticos sugestivos de PV foram confirmados após diagnóstico molecular. Iniciou terapêutica com alfa-interferão 2a. Atualmente apresenta contagem plaquetária e eritrocitária dentro de valores normais. Conclusões: Os autores fazem uma análise do caso clinico, inserido no contexto mandatório de um diagnóstico diferencial entre trombocitose reativa e outras doenças mieloproliferativas.

Recent outbreak of cutaneous anthrax in Bangladesh: clinico-demographic profile and treatment outcome of cases attended at Rajshahi Medical College Hospital

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Siddiqui Muhammad

2012-08-01

Full Text Available Abstract Background Human cutaneous anthrax results from skin exposure to B. anthracis, primarily due to occupational exposure. Bangladesh has experienced a number of outbreaks of cutaneous anthrax in recent years. The last episode occurred from April to August, 2011 and created mass havoc due to its dreadful clinical outcome and socio-cultural consequences. We report here the clinico-demographic profile and treatment outcome of 15 cutaneous anthrax cases attended at the Dermatology Outpatient Department of Rajshahi Medical College Hospital, Bangladesh between April and August, 2011 with an aim to create awareness for early case detection and management. Findings Anthrax was suspected primarily based on cutaneous manifestations of typical non-tender ulcer with black eschar, with or without oedema, and a history of butchering, or dressing/washing of cattle/goat or their meat. Diagnosis was established by demonstration of large gram-positive rods, typically resembling B. anthracis under light microscope where possible and also by ascertaining therapeutic success. The mean age of cases was 21.4 years (ranging from 3 to 46 years, 7 (46.7% being males and 8 (53.3% females. The majority of cases were from lower middle socioeconomic status. Types of exposures included butchering (20%, contact with raw meat (46.7%, and live animals (33.3%. Malignant pustule was present in upper extremity, both extremities, face, and trunk at frequencies of 11 (73.3%, 2 (13.3%, 1 (6.7% and 1 (6.7% respectively. Eight (53.3% patients presented with fever, 7 (46.7% had localized oedema and 5 (33.3% had regional lymphadenopathy. Anthrax was confirmed in 13 (86.7% cases by demonstration of gram-positive rods. All cases were cured with 2 months oral ciprofloxacin combined with flucoxacillin for 2 weeks. Conclusions We present the findings from this series of cases to reinforce the criteria for clinical diagnosis and to urge prompt therapeutic measures to treat

Associação entre achados ultrassonográficos e clínicos do quadril de pacientes com artrite idiopática juvenil

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Vanessa Bugni Miotto e Silva

2013-08-01

Full Text Available OBJETIVO: Descrever os achados ultrassonográficos do quadril em pacientes com artrite idiopática juvenil (AIJ e sua associação com sinais, sintomas e atividade da doença. MATERIAIS E MÉTODOS: Estudo retrospectivo com 92 pacientes com AIJ. Foram avaliados os subtipos da doença, a idade de início, o tempo de evolução, a atividade da doença e as manifestações clínicas do envolvimento do quadril. A avaliação ultrassonográfica foi realizada na rotina dos pacientes, e as imagens foram analisadas por dois ultrassonografistas cegos em relação às condições clínicas dos pacientes. RESULTADOS: Do total de 92 pacientes, 69,6% eram meninas, com média de idade de 12,4 ± 5,1 anos. Trinta e três (35,9% apresentaram subtipo oligoarticular persistente e trinta (32,6% poliarticular com fator reumatoide negativo. Quarenta e quatro (47,8% apresentaram sinal e/ou sintoma relacionado ao quadril. Vinte e nove (31,5% apresentaram alterações ultrassonográficas, com sinovite subclínica em 34,4%. As alterações ultrassonográficas se associaram com presença de sinais e/ou sintomas do quadril (P = 0,021, especialmente limitação articular (P = 0,006, mas não com atividade (P = 0,948 ou subtipo de doença (P = 0,108. Sinovite clínica se associou com comprometimento poliarticular (P = 0,002 e atividade de doença (P = 0,017. Não houve associação entre sinovite subclínica e as variáveis estudadas. CONCLUSÃO: O acometimento clínico do quadril na AIJ, especialmente a limitação articular, está associado à sinovite na avaliação por US, independente do subtipo e da atividade da doença. Os profissionais de saúde devem estar atentos à possibilidade de doença silenciosa com sinovite subclínica, que pode contribuir para a deterioração da articulação do quadril.

Psiconeuroendocrinologia do transtorno de estresse pós-traumático

OpenAIRE

Ruiz,Juliana Elena; Barbosa Neto,Jair; Schoedl,Aline Ferri; Mello,Marcelo Feijo

2007-01-01

OBJETIVO: Os autores realizaram uma revisão tradicional da literatura sobre os achados neurobiológicos das disfunções do eixo hipotálamo-pituitária-adrenal associados ao transtorno de estresse pós-traumático. MÉTODO: Os achados científicos relevantes foram descritos de acordo com a ordem cronológica de publicação e as características dos estudos, se eram pré-clínicos, relacio-nados à violência precoce como fator de risco e, finalmente, achados clínicos em pacientes portadores de transtorno de...

Vi, de civiliserede

DEFF Research Database (Denmark)

Nyemann, Dorthe

2016-01-01

Vi har i årtier troet på, at mennesker under de rette omstændigheder kan lykkes med at leve i fred og fordragelighed med hinanden. Skal vi til at erkende, at også vores samfundsstrukturer kun er en tynd fernis ovenpå et utæmmeligt voldspotentiale og egoisme?......Vi har i årtier troet på, at mennesker under de rette omstændigheder kan lykkes med at leve i fred og fordragelighed med hinanden. Skal vi til at erkende, at også vores samfundsstrukturer kun er en tynd fernis ovenpå et utæmmeligt voldspotentiale og egoisme?...

Poor performance of quick-SOFA (qSOFA) score in predicting severe sepsis and mortality - a prospective study of patients admitted with infection to the emergency department.

Science.gov (United States)

Askim, Åsa; Moser, Florentin; Gustad, Lise T; Stene, Helga; Gundersen, Maren; Åsvold, Bjørn Olav; Dale, Jostein; Bjørnsen, Lars Petter; Damås, Jan Kristian; Solligård, Erik

2017-06-09

We aimed to evaluate the clinical usefulness of qSOFA as a risk stratification tool for patients admitted with infection compared to traditional SIRS criteria or our triage system; the Rapid Emergency Triage and Treatment System (RETTS). The study was an observational cohort study performed at one Emergency Department (ED) in an urban university teaching hospital in Norway, with approximately 20,000 visits per year. All patients >16 years presenting with symptoms or clinical signs suggesting an infection (n = 1535) were prospectively included in the study from January 1 to December 31, 2012. At arrival in the ED, vital signs were recorded and all patients were triaged according to RETTS vital signs, presenting infection, and sepsis symptoms. These admission data were also used to calculate qSOFA and SIRS. Treatment outcome was later retrieved from the patients' electronic records (EPR) and mortality data from the Norwegian population registry. Of the 1535 admitted patients, 108 (7.0%) fulfilled the Sepsis2 criteria for severe sepsis. The qSOFA score ≥2 identified only 33 (sensitivity 0.32, specificity 0.98) of the patients with severe sepsis, whilst the RETTS-alert ≥ orange identified 92 patients (sensitivity 0.85, specificity 0.55). Twenty-six patients died within 7 days of admission; four (15.4%) of them had a qSOFA ≥2, and 16 (61.5%) had RETTS ≥ orange alert. Of the 68 patients that died within 30 days, only eight (11.9%) scored ≥2 on the qSOFA, and 45 (66.1%) had a RETTS ≥ orange alert. In order to achieve timely treatment for sepsis, a sensitive screening tool is more important than a specific one. Our study is the fourth study were qSOFA finds few of the sepsis cases in prehospital or at arrival to the ED. We add information on the RETTS triage system, the two highest acuity levels together had a high sensitivity (85%) for identifying sepsis at arrival to the ED - and thus, RETTS should not be replaced by qSOFA as a screening and

Achados ecocardiográficos em crianças com sopro "inocente" Echocardiographic findings in children with innocent murmur

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Cora Firpo

2006-08-01

Full Text Available OBJETIVOS: Avaliar a freqüência de alterações ecocardiográficas em pacientes com diagnóstico de sopro "inocente". Métodos. Estudo transversal de uma amostra de 166 pacientes com diagnóstico de sopro "inocente" avaliados no ambulatório de Cardiologia Pediátrica do Instituto de Cardiologia/Fundação Universitária de Cardiologia, um serviço terciário de referência, durante o período de 3/12/2001 a 2/12/2002. Todos os pacientes realizaram anamnese, exame físico, eletrocardiograma e ecocardiograma. Foram estimadas as probabilidades pós-teste de exame clínico considerando o ecocardiograma como padrão ouro. Resultados. Dos 166 pacientes estudados, 11 apresentaram alguma alteração ao ecocardiograma: estenose pulmonar leve (4, forame oval patente (2, aorta bicúspide (2, comunicação interatrial (1, insuficiência aórtica mínima (1, comunicação interventricular mínima (1. A probabilidade pós-teste negativo, ou seja, a probabilidade de lesão cardíaca com diagnóstico de sopro "inocente" foi de 6,6%. Conclusão. Em ambulatório especializado, é alta a proporção de alterações ecocardiográficas em pacientes com diagnóstico de sopro "inocente". Estes achados podem não estar relacionados à presença de sopro, como o forame oval patente e a aorta bicúspide. No entanto, levantam a questão da indicação de ecocardiograma considerando, por um lado, o baixo risco das lesões detectadas e, por outro, o caráter resolutivo de um ambulatório de referência.OBJECTIVES: To access the frequency of abnormal echocardiographic findings in patients with diagnosis of innocent murmur. METHODS: A transversal study of 166 consecutive patients was carried out with diagnosis of innocent murmur evaluated in the pediatric cardiology outpatient clinic of "Instituto de Cardiologia/Fundação Universitária de Cardiologia", a tertiary reference center, between December 3, 2001 and December 2, 2002. History, clinical examination and

Absorbable stent: focus on clinical applications and benefits

OpenAIRE

Gonzalo, Nieves; Macaya, Carlos

2012-01-01

Nieves Gonzalo, Carlos MacayaInterventional Cardiology, Cardiovascular Institute. Hospital Clinico San Carlos, Instituto de Investigación Sanitaria del Hospital Clinico San Carlos, Madrid, SpainAbstract: Coronary stents have improved very significantly the immediate and long-term results of percutaneous coronary interventions. However, once the vessel has healed, the scaffolding function of the stent is no longer needed, and the presence of a permanent metallic prosthesis poses imp...

Paralisia facial periférica

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José Jarjura Jorge Jr.

2007-05-01

Full Text Available Os autores fazem uma revisão sobre o anatomo fisiologia, os diagnósticos clinico e eletrofisiológico da Paralisia Facial Periférica assim como relacionam as afecções envolvidas no processo, discutindo seu tratamento clinico e cirúrgico. Em seguida relatam 5 casos de diversas etiologias tratados no ambulatório de Paralisia Facial da Disciplina de Otorrinolaringologia da FCMB da PUC-SP.

Achados otoneurológicos em pacientes com doença de Parkinson Neurotological findings in patients with Parkinson's disease

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Jackeline Martins Bassetto

2008-06-01

Full Text Available O número de idosos vem aumentando consideravelmente em nossa população, com isso, as doenças crônico-degenerativas como a doença de Parkinson (DP, cuja sintomatologia relacionada ao equilíbrio é constante, torna-se cada vez mais freqüente na população idosa. OBJETIVO: Verificar os achados no exame labiríntico em pacientes com DP e correlacioná-los com a sintomatologia vestibular. Forma de Estudo: Corte contemporânea com corte transversal. MATERIAL E MÉTODO: Avaliaram-se trinta pacientes, vinte do sexo feminino e dez do sexo masculino na faixa etária de 48 a 84 anos. Procedimentos: anamnese, inspeção otológica e avaliação vestibular por meio da vectoeletronistagmografia (VENG. RESULTADOS: a Com relação às queixas otoneurológicas referidas à anamnese, observou-se a prevalência do tremor (100,0%, da tontura (43,3%, do zumbido (40,0%, do desequilíbrio á marcha e queda (36,6% em cada; b Na avaliação da função vestibular, evidenciou-se diferença significativa na proporção de exames alterados (p=0,0000; c A prevalência de alteração ocorreu no sistema vestibular periférico (93,3% e na prova calórica com predomínio da hiporreflexia labiríntica bilateral (30,0%; d Correlacionou-se o resultado do exame com a sintomatologia vestibular e observou-se que não existe diferença significativa. CONCLUSÃO: Este estudo permitiu verificar um número significativo de exames alterados independente da ocorrência da sintomatologia.The number of elderly people is increasing considerably in our settings, and with that we have a matching increase in chronic-degenerative diseases - such as Parkinson's Disease (PD, which has balance-related symptoms associated and is increasingly more prevalent in the elderly population. AIM: Study labyrinth exams in PD patients and associate them with vestibular disorders. Study design: contemporary cross-sectional cohort. MATERIALS AND METHODS: Thirty patients were assessed, twenty females and

Tumoral expression on Her-2, E R and P R and its Clinico pathological characteristics relation in Uruguayan and Argentine patients with operable breast cancer

International Nuclear Information System (INIS)

Delgado, L; Richardet, E; Pallotta, G; Fresco, R; Aguiar, S; Camejo, N; Gonzalez, V; Ferrero, L; Heinzen, S; Martinez, A. and others

2010-01-01

Introduction: the study of biological subtype of breast cancer (B C) given by the expression tumor estrogen receptors (E R), progesterone (P R) and growth factor receptor and evolutionary. Objective: To know the profile of tumor expression of HER2, ER and P R and their relation with to characteristics clinico pathological characteristics in Uruguayan and Argentine patients with breast cancer. Material and Methods: The medical records of patients who underwent analyzed C M I-III invasive stages between 03/2006 and 03/2008 and assisted in Oncology Services where the authors are performing, which had selected determination ER, P R and HER2 by immunohistochemistry. The expression profile of these was markers compared with age at diagnosis, type and histological grade (GH) and pathological stage (TNM). Results: 291 patients (197 Uruguayan and 94 Argentine) were included whose characteristics were: mean age: 56 years, ductal carcinoma: 85%, GH 1-2: 55% stage I-II: 70%, metastasis axillary: 51%, ER / P R +: 78% HER2 + 12%. Three subtypes were defined: HER2 ER / P R + (71%), HER2 + (12% Uruguayan patients: 10%, Argentine patients: 17%) and negative Triple (TN) (17%). The joint analysis of the patients in both countries showed that subtypes TN and HER2 is associated with greater histological grade (p <0.05). Furthermore, in the group of patients Uruguayan, TN subtype was associated with younger age at diagnosis (p <0.05) subtype HER2, ER / PR +. Conclusions: The percentage of patients with CM Uruguayan invasive HER2 + subtype (10%) is smaller than that reported by other studies (17-28%) and that observed in our study Argentine group of patients. Consistent with previous studies, TN subtypes and HER2 + correlated with more undifferentiated tumors and in the group of Uruguayan patients TN appeared in younger patients

Robusthed er noget betjente skaber sammen

DEFF Research Database (Denmark)

Mogensen, Mette; Mikkelsen, Elisabeth Naima

2018-01-01

Kriminalforsorgen lægger vægt på at tiltrække ’folk af den rette støbning’. Men når Man fokuserer på den enkelte betjents karaktertræk, trænger man en væsentlig dimension Ved betjentjobbet i baggrunden: nemlig betydningen af et velfungerende teamsamarbejde.......Kriminalforsorgen lægger vægt på at tiltrække ’folk af den rette støbning’. Men når Man fokuserer på den enkelte betjents karaktertræk, trænger man en væsentlig dimension Ved betjentjobbet i baggrunden: nemlig betydningen af et velfungerende teamsamarbejde....

Síndrome de Cogan: achados oculares em um caso da forma atípica Cogan's syndrome: ocular findings in an atypical case

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Ana Karina Santiago de Medeiros Lima

2006-12-01

Full Text Available A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o não-acometimento corneano na forma atípica com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica. O diagnóstico diferencial também é discutido.Cogan's syndrome is an unusual multisystemic disease characterized by intersticial keratitis in association with vestibuloauditory dysfunction and possible irreversible deafness, classified into 2 clinical types: typical and atypical. There is disagreement in the literature about corneal disease in the atypical variety. A 32-year-old woman complaining of ocular hyperemia and ocular pain, photophobia and visual acuity loss in the right eye associated with sudden left hearing loss, vomiting, diarrhea, oliguria, oropharynx pain and fever. Previous history of similar disease in left eye and right hearing. There was intense conjunctival hyperemia, nodular scleritis, episcleritis, and circular infiltrates

Internprising i multinasjonale konsern - En analyse av eierskapsbestemmelsene til overskudd fra immaterielle eiendeler i skatteavtalesituasjoner etter OECDs reviderte retningslinjer fra BEPS-prosjektet

OpenAIRE

Hamnes, Benjamin Jacobsen

2017-01-01

Oppgaven omhandler OECDs oppdaterte internprisingsretningslinjer fra BEPS-prosjektet, som medfører endrede begrensninger i rettslig eiers rett til residualoverskudd fra en selvutviklet immateriell eiendel.

Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age

Science.gov (United States)

Cvelbar, Mirjam; Hocevar, Marko; Novakovic, Srdjan; Stegel, Vida; Perhavec, Andraz

2017-01-01

Abstract Background In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to

Correlação do sinal de Lasègue e manobra da elevação da perna, retificada com os achados cirúrgicos em pacientes com ciatalgia portadores de hérnia discal lombar Correlación del signo de Lasègue y maniobra de elevación de la pierna recta con los resultados quirúrgicos en pacientes con ciática que tenían hernia lumbar discal Correlation of Lasègue sign and the straight-leg-raising test with surgical findings in patients with sciatica and lumbar disc herniation

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Jonatas Sanchez Fernandez

2012-01-01

Full Text Available OBJETIVO: Investigar a correlação entre as manobras de estiramento do nervo ciático, como o Teste de Lasègue (TL e o Teste de Elevação da Perna Estendida (TEPE, com os achados cirúrgicos nos pacientes com ciatalgia. MÉTODOS: 178 pacientes portadores de hérnia de disco lombar foram examinados previamente pelo autor através do TL e do TEPE. Os achados cirúrgicos foram anotados e comparados com os achados do exame clínico. RESULTADOS: Dos pacientes estudados, 162 (91% apresentaram TL positivo enquanto 118 (66,2% apresentaram a TEPE positivo. CONCLUSÃO: O TL foi a manobra diagnóstica pré-operatória mais sensível em correlação com a hérnia discal lombar.OBJETIVO: Investigar la correlación entre las maniobras de estiramiento del nervio ciático, como la Prueba de Lasègue (PL y la Prueba de Elevación de la Pierna Extendida (PEPE, con los resultados quirúrgicos en pacientes con ciática. MÉTODOS: 178 pacientes con hernia discal lumbar fueron examinados previamente por el autor mediante la PL y la PEPE. Los resultados quirúrgicos fueron registrados y comparados con los hallazgos en el examen clínico. RESULTADOS: De los pacientes estudiados, 162 (91% fueron positivos en la PL, mientras que 118 (66,2% presentaron PEPE positiva. CONCLUSIÓN: La PL fue la maniobra de diagnóstico preoperatorio más sensible en correlación con hernia discal lumbar.OBJECTIVE: To investigate the correlation between maneuversfor stretching the sciatic nerve, as the Lasègue Sign (LS and the Straight-Leg-Raising Test (SLRT, with surgical findings in patients with sciatica. METHODS: 178 patients with herniated lumbar disc were previously examined by the author through LS and SLRT. Surgical findings were recorded and compared with findings on clinical examination. RESULTS: Of the patients studied, 162 (91% had positive LS while 118 (66.2% were positive to SLRT. CONCLUSION: The LS was the most sensitive preoperative physical diagnostic test with respect

What Causes Rett Syndrome?

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... of Legislation and Public Policy (OLPP) Office of Science Policy, Reporting, and Program Analysis (OSPRA) Division of Extramural Research (DER) Extramural Scientific Branches Grants Management Branch (GMB) Office of Committee Management ( ...

Rett Syndrome Fact Sheet

Science.gov (United States)

... help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some ... Are Funded Small Business Grants Overview Areas of Interest Budget Information Grant Timeline Award Information Entrepreneurial Resources ...

Renal involvement in human rabies: clinical manifestations and autopsy findings of nine cases from northeast of Brazil Envolvimento renal na raiva em humanos: manifestações clínicas e achados de autópsia de nove casos do nordeste do Brasil

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Elizabeth De Francesco Daher

2005-12-01

(50% foi encontrada evidência de insuficiência renal aguda, definida como creatinina > 1.4 mg/dL. Os achados de autópsia do tecido renal foram congestão glomerular leve a moderada e congestão capilar peritubular leve a intensa. Necrose tubular aguda foi encontrada em dois casos. Estes achados são inespecíficos, de modo que a instabilidade hemodinâmica, causada por disfunção autonômica, hidrofobia e desidratação podem ser considerados como responsáveis pela insuficiência renal aguda na raiva.

Acurácia dos achados mamográficos do câncer de mama: correlação da classificação BI-RADS e achados histológicos Accuracy of mammographic findings in breast cancer: correlation between BI-RADS classification and histological findings

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José Hermes Ribas do Nascimento

2010-04-01

Full Text Available OBJETIVO: A proposta deste estudo foi avaliar a acurácia da classificação BI-RADS® na mamografia. Os pontos secundários foram descrever a frequência de apresentação dos diferentes achados mamográficos e avaliar a concordância entre observadores. MATERIAIS E MÉTODOS: Os exames de 115 pacientes, encaminhados para core biopsy, foram reavaliados independentemente por dois médicos especialistas, cegados, utilizando a recomendação do BI-RADS. Posteriormente, os exames foram comparados com a histologia. A acurácia da classificação BI-RADS na mamografia foi avaliada. A concordância entre os médicos foi calculada pela estatística kappa (κ de Cohen e as diferenças nos grupos de comparação foram analisadas com teste qui-quadrado. RESULTADOS: Esta pesquisa demonstrou que a acurácia mamográfica oscilou de 75% a 62% na diferenciação entre lesões benignas de malignas com o uso do BI-RADS. Houve importante concordância na descrição das margens dos nódulos (κ= 0,66. Baixa concordância foi identificada na descrição dos contornos (formas dos nódulos (κ= 0,40 e na descrição das calcificações, tanto em relação à sua distribuição (κ= 0,24 como também em relação à morfologia (κ= 0,36. CONCLUSÃO: O presente estudo demonstrou que o método é acurado na diferenciação de lesões benignas de malignas. A concordância foi fraca na análise das calcificações quanto a morfologia e distribuição, no entanto, identificou-se elevação progressiva dos valores preditivos positivos nas subcategorias 4.OBJECTIVE: The present study was aimed at evaluating the BI-RADS® classification accuracy in mammography. Additionally, the frequency of different findings was described and the interobserver agreement was evaluated. MATERIALS AND METHODS: Mammographic images of 115 patients were independently and blindly reviewed by two specialists in compliance with BI-RADS recommendations, and later compared with histological data. The

Relação entre os achados do teste masking level difference e do reflexo acústico em crianças com transtorno fonológico

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Diana Weber Bartz

2015-10-01

Full Text Available Resumo: OBJETIVO: investigar os achados do teste Masking Level Difference com os resultados do reflexo acústico e a composição do sistema fonológico de crianças com transtorno fonológico, com o propósito de verificar se há associações que possam auxiliar a compreensão do processo de aquisição de linguagem atípica. MÉTODOS: estudo quantitativo, observacional e descritivo, desenvolvido por meio de levantamento secundário de um banco de dados, constituído de avaliações fonoaudiológicas de 110 crianças com transtorno fonológico, com idades entre 5 e 10 anos. Para a composição do corpus deste estudo o requisito utilizado foi a realização da timpanometria, com curva timpanométrica do tipo A (Jerger e possuir avaliação do Masking Level Difference. RESULTADOS: dos dados de 110 crianças, 57 se enquadraram nestes requisitos, compondo a população deste estudo, sendo 42 do sexo masculino e 15 do sexo feminino. Destas 57 crianças, 23 (40,3% apresentam resultado do Masking Level Difference normal e 34 (59,7% apresentam resultado alterado. Não foi encontrada diferença estatística na relação entre o Masking Level Difference com as variáveis idade, sexo, grau de inteligibilidade de fala e o resultado do reflexo acústico contralateral e ipsilateral. Na relação entre a aquisição fonológica dos fonemas em onsetinicial e medial, foi encontrada significância estatística entre a não aquisição dos fonemas /s/ e /ʀ/ em onset inicial e /s/ e /z/ em onset medial com o resultado do teste alterado. CONCLUSÃO: outras habilidades do processamento auditivo, além da interação binaural, devem ser estudadas a fim de identificar a relação deste com o transtorno fonológico.

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Science.gov (United States)

Bahi-Buisson, Nadia; Girard, Benoit; Gautier, Agnes; Nectoux, Juliette; Fichou, Yann; Saillour, Yoann; Poirier, Karine; Chelly, Jamel; Bienvenu, Thierry

2010-01-05

We report a 2-year-old girl with early onset seizures variant of Rett syndrome with a deletion at Xp22 detected by multiplex ligation-dependent probe amplification (MLPA) technique. This patient presented with tonic seizures at 7 days of life. Subsequently, she developed infantile spasms at three months and finally refractory myoclonic epilepsy. She demonstrated severe encephalopathy with hypotonia, deceleration of head growth, with eye gaze but limited eye pursuit, no language, limited hand use, and intermittent hand stereotypies. This combination of clinical features, suggestive of early onset variant of Rett syndrome led us to screen the CDKL5 gene. In a first step, screening of the whole coding sequence of the CDKL5 gene revealed no point mutations. In a second step, we searched gross rearrangements by MLPA and identified a microdeletion affecting both the promoter and exon 1 in CDKL5. Subsequent analysis on a Nimblegen HD2 microarray confirmed a deletion of approximately 300 kb at Xp22, including the BEND2, SCML2, and CDKL5 genes. In conclusion, our report suggests that searching for large rearrangements in CDKL5 should be considered in girls with early onset seizures and Rett-like features. (c) 2009 Wiley-Liss, Inc.

La ricerca narrativa in psicologia: in fondamento per la formazione

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Santo Di Nuovo

2005-09-01

Full Text Available Proprio le metodologie qualitative di verifica del lavoro clinico, quelle narrative in particolare [...] offrono un potente strumento di mediazione tra il rigore scientifico e la possibilità di condividere principi e criteri nella comunità dei ricercatori, e l’accettazione di una complessità di approccio al lavoro clinico che solo metodologie olistiche e non riduttive possono garantire. Le scuole di formazione alla psicologia clinica possono ampiamente avvalersi di queste metodologie, con sicuro beneficio sulla qualità complessiva della formazione stessa.

What Are Treatments for Intellectual & Developmental Disabilities (IDDs)?

Science.gov (United States)

... Children with Down syndrome , fragile X syndrome , Rett syndrome , and other IDDs can often benefit from therapeutic speech therapy, occupational therapy, and exercises to improve their gross- and ...

Achados vestibulares em usuários de aparelho de amplificação sonora individual Vestibular findings in hearing aid users

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Fabiane Paulin

2009-01-01

Full Text Available OBJETIVO: verificar os achados vestibulares em pacientes com perda auditiva neurossenssorial usuários de aparelho de amplificação sonora individual. MÉTODOS: vinte pacientes, 11 do sexo feminino e nove do sexo masculino, com idades entre 39 e 85 anos, com perda auditiva neurossenssorial bilateral de grau moderado e severo foram atendidos em uma Instituição de Ensino Superior e submetidos a uma anamnese, inspeção otológica, avaliação audiológica, imitanciometria e ao exame vestibular por meio da vectoeletronistagmografia. RESULTADOS: a dos 20 pacientes avaliados, 18 (90% apresentaram queixa de zumbido, 15 (75% queixa de tontura e oito (40% queixa de cefaléia; b houve predomínio de alteração na prova calórica e no sistema vestibular periférico; c o resultado do exame vestibular esteve alterado em 14 pacientes (70%, sendo, oito casos (40% de síndrome vestibular periférica irritativa e seis casos (30% de síndrome vestibular periférica deficitária; d verificou-se diferença significativa entre o resultado do exame vestibular e o tempo de uso do aparelho de amplificação sonora individual; e dos cinco pacientes que não referiram nenhum sintoma vestibular, quatro (80% apresentaram alteração no exame. CONCLUSÃO: ressalta-se a sensibilidade e importância do estudo funcional do sistema do equilíbrio neste tipo de população, uma vez que podem ocorrer alterações na avaliação labiríntica independente da presença de sintomas.PURPOSE: to check vestibular findings in patients with sensoneural hearing loss, hearing aid users. METHODS: 20 patients (eleven females and nine males aging from 39 to 85-year-old with bilateral sensorineural hearing loss, from moderate to severe degrees, were attended in a higher education institution evaluated by medical history, otological inspections, complete basic conventional audiological evaluations, acoustic impedance tests and vectoeletronystagmography. RESULTS: a from the 20 evaluated

Arterial territories of human brain: brainstem and cerebellum

International Nuclear Information System (INIS)

Tatu, L.; Moulin, T.; Bogousslavsky, J.; Duvernoy, H.

1997-01-01

The development of neuroimaging has allowed clinicians to improve clinico-anatomic correlations in patients with strokes. Brainstem and cerebellum structures are well delineated on MRI, but there is a lack of standardization in their arterial supply. We present a system of 12 brainstem and cerebellum axial sections, depicting the dominant arterial territories and the most important anatomic structures. These sections may be used as a practical tool to determine arterial territories on MRI, and may help establish consistent clinico-anatomic correlations in patients with brainstem and cerebellar ischemic strokes. (authors)

Broca's aphemia: an illustrated account of its clinico-anatomic validity Afemia de Broca: um relato ilustrado sobre sua validade anátomo-clínica

Directory of Open Access Journals (Sweden)

Ricardo de Oliveira-Souza

2007-12-01

Full Text Available OBJECTIVE: To present the case of a 54-year-old man with loss of speech, but with preservation of voluntary facio-lingual motility, language and other cognitive abilities (Broca's aphemia. METHOD: Observation of patient oral communicative abilities and general behavior, neuropsychological assessment and cranial computed tomography. RESULTS: Computed tomography showed a hyperdense lesion in the subcortex of the left precentral gyrus corresponding to Brodmann's area 6 and 44. Neuropsychological assessment confirmed that the major cognitive domains were intact. CONCLUSION: Our patient reiterates the validity of Broca's aphemia as a clinico-anatomic entity allowing us to portray it for the first time in pictures. From a neurobehavioral perspective, aphemia is related to apraxia rather than to aphasia, a fact that may have hampered the full grasp of its far-reaching implications for neurology and aphasiology.OBJETIVO: Apresentar o caso de um paciente de 54 anos de idade com perda da fala, mas preservação da linguagem, das demais capacidades cognitivas, e da motilidade fácio-lingual voluntária (afemia de Broca. MÉTODO: Observação da capacidade de comunicação oral e do comportamento geral, exame neuropsicológico e tomografia computadorizada do crânio. RESULTADOS: A tomografia computadorizada revelou lesão hiperdensa no subcórtex do giro precentral esquerdo correspondendo às áreas 6 e 44 de Brodmann. O exame neuropsicológico confirmou que os principais domínios cognitivos se encontravam intactos. CONCLUSÃO: Nosso paciente reiterou a validade da afemia de Broca como entidade anátomo-clínico permitindo documentá-la em fotos pela primeira vez. Da perspectiva neurocomportamental, a afemia está vinculada às apraxias e não às afasias, o que pode ter prejudicado a apreensão plena do seu profundo significado para a neurologia e para a afasiologia.

STUDY OF CLINICO- EPIDEMIOLOGICAL PROFILE OF PATIENTS ADMITTED WITH INFANTILE TREMOR SYNDROME (ITS AND STATUS OF TRACE ELEMENTS (ZINC, COPPER DEFICIENCY IN THEM

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Mohan Makwana

2017-03-01

Full Text Available BACKGROUND Under nutrition is one of the major problems in the field of Paediatrics. The greatest risk of malnutrition is in the first two years of life. The effects of this early damage on health, brain development, intelligence, educability and productivity are potentially reversible. The current study was an attempt to find out the clinico epidemiological profile, evaluate them for trace elements deficiency and most appropriate management options in those who are admitted with infantile tremor syndrome. MATERIALS AND METHODS The current study was a hospital based cross sectional study that was conducted in the Department of Paediatrics, Dr. S. N. Medical College Jodhpur. Duration of study was One Year. Any child up to the age of three years of age admitted in the paediatric wards with typical features of infantile tremor syndrome. RESULTS Maximum numbers of patients were found between 6 months to 12 months of age, there was slight male predominance. The majority of infants in our study (85% were exclusively breast fed, 66% of cases were having low serum Copper level. 9% of cases were having low serum zinc level. 8% of cases were having low serum copper level with tremors. CONCLUSION In our study the fact that NTS is mainly seen in children who are exclusively breast feed for a longer period with delayed introduction of weaning foods. The main presenting features remain developmental delay, hyper pigmentation and anemia. Among nutritional factors, deficiency of copper and zinc in children plays a big role in development of disease. Thus to prevent the development of nutritional tremor syndrome stress should be on early timely introduction of weaning foods, especially rich in copper and zinc. What is already known about this Study- low levels of trace elements like copper and zinc may be responsible for typical clinical manifestations in patients of infantile tremor syndrome. Pronged and Exclusive breast feeding further aggravate these features

Praktikuddannelse, kendte og miskendte sider

DEFF Research Database (Denmark)

Larsen, Kristian

, evalueringssamtaler etc. Den konventionelle forestilling om læring (fra lærer til studerende, fra tanke til handling etc.) kan til dels bekræftes, men den fremstår samtidig som en stærkt accentueret og overestimeret dimension af, hvad praktikuddannelse er. Den miskender gennem sin ideologiske konstruktion...... styrende end at anvende teori i praktik eller at lære noget af aktiviteterne. Habitus guider en søgende og defensiv praktik ud fra et forsigtighedsprincip. Strategier kan være at stille de rette spørgsmål på rette sted og måde, først spørge når man nogenlunde ‘ved', vise sin uvidenhed frem for at gøre den...

Transtorno afetivo bipolar em idosos: características clínicas e sociodemográficas = Bipolar disorder in the elderly: clinical and socio-demographic characteristics

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Zung, Stevin

2009-01-01

Conclusões: o presente estudo, conduzido em pacientes idosos com transtorno afetivo bipolar, confirmou achados clínicos importantes de investigações realizadas em pacientes adultos, acrescentando o fato inédito de consolidar esses achados através da investigação em uma população de pacientes idosos com longo tempo de evolução de seu quadro clínico

Imobilização interna da coluna vertebral lombar com placas de cloreto de polivinila, em cães - parte I: resultados clínico-cirúrgicos Internal immobilization of the lumbar canine spine using polyvinylchloride plates - part I: clinical and surgical results

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Eduardo Alberto Tudury

1997-03-01

Full Text Available Utilizando-se 20 cães, com o segmento lombar da coluna vertebral cirurgicamente desestabilizado na junção das vértebras L2-L3, foi testada a eficiência de placas ortopédicas de cloreto de polivinila (PVC Tigre®, fixadas com parafusos nos corpos vertebrais e com fio ortopédico de aço inoxidável nos processos espinhosos. As placas foram manual e individualmente confeccionadas para cada animal e esterilizadas pelo calor. Apesar de apresentar maleabilidade adequada, a resistência das placas utilizadas no corpos vertebrais deixou a desejar, dado seu rompimento em 40% dos casos. Apesar disto, durante os 45 dias do estudo, verificaram-se resultados favoráveis quanto ao estado clinico-neurológico, resultados de exames laboratoriais, achados radiológicos, estabilidade e alinhamento da coluna vertebral, assim como, quanto a resistência e flexibilidade das placas utilizadas nos processos espinhosos. Os fios ortopédicos de aço inoxidável, utilizados para fixar as placas no compartimento dorsal da coluna vertebral, passaram entre e não através desses processos.The efficiency ofpolyvinylchioride (PVC orthopedic plates, fixed by screws to the vertebral bodies and by cerciage wires to the spinous processes, were tested in twenty dogs with the lumbar spine destabilized at L2-L3. The plates were produced manually and individuatly for each animal and sterilized by heat. The plates exhibited suitable malleabitity but inappropriate strength because 40% ofthose affixed to the vertebral bodies were bmken. Nevertheless, during the 45 days ofthe study, the technique was consideredefective based on stability, clinicai, neurological, laboratory and radiological results. This effïciency was achieved by the technique used m the spinous processes, where the plates were fixed by wires passing between (not through them.

Achados tomográficos das alterações abdominais pós-operatórias dos pacientes submetidos ao derivação gastrojejunal em Y-de-Roux sem anel

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Fernanda Marcondes Ribas

Full Text Available OBJETIVO: Avaliar por exame de tomografia computadorizada de pacientes submetidos à derivação gastrojejunal em Y-de-Roux, sem anel, para tratamento de obesidade mórbida. MÉTODOS: Estudaram-se 40 pacientes, encaminhados ao serviço de tomografia do Hospital Universitário Evangélico de Curitiba para avaliação diagnóstica. Encontravam-se em pós-operatório de cirurgia bariátrica tendo sido operados no mesmo hospital. Foram incluídos pacientes submetidos à operação laparoscópica com sintomas que necessitavam de avaliação tomográfica diagnóstica. Excluíram-se pacientes que tinham sido submetidos à cirurgia bariátrica por outras técnicas cirúrgicas; que tinham sido operados por outra equipe; que não concordassem com a administração de contraste iodado por via oral ou endovenosa; e que excediam o limite de peso da mesa de exame. Para análise estatística utilizou-se a média das variáveis. RESULTADOS: Os pacientes apresentaram-se com idade entre 23 a 70 anos e eram 11 homens e 29 mulheres. Não houve alterações extra-abdominais detectáveis pela tomografia de abdômen total; dos 40 pacientes avaliados, 30 apresentavam achados tomográficos dentro do limite da normalidade. A presença de estenose na anastomose gastrojejunal foi encontrada em um paciente; hérnia interna ocorreu em cinco; fístula anastomótica em um e abcesso em três dos pacientes estudados. CONCLUSÃO: A tomografia de abdome total não conseguiu informar a causa dos sintomas dos pacientes operados em 87,5% dos pacientes que procuraram re-avaliação médica por sintomas pós-operatórios da cirurgia bariátrica.

African Heath Sciences Vol 7 No 4.p65

African Journals Online (AJOL)

FOMCS2

Prevalence and determinants of ever smoked cigarettes among school-going ... Background: Cigarette smoking is the single most important preventable cause of non-infectious diseases. ... rette smokers were likely to be less educated, urban.

MRI findings in the diagnosis and monitoring of rasmussen's encephalitis Achados de RM no diagnóstico e monitorização da encefalite de Rasmussen

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Andréia V. Faria

2009-09-01

Full Text Available Rasmussen's encephalitis is a devastating syndrome of multifocal brain dysfunction and focal seizures. Magnetic resonance (MR findings, associated with clinical data and electroencephalogram (EEG, may indicate the diagnosis and could be an indicative of prognosis. We studied 5 patients with Rasmussen's encephalitis, assessing clinical history and MR images. All patients had refractory focal seizures with a predominant motor component associated with hemispheric atrophy, that was proportional to severity of disease and neurological deficits in these patients. Gray and white matter abnormal signal on T2 MR images were found in patients who had hemiparesis. It was not related to the duration of the disease but to aggressiveness. MR proton spectroscopy in severe disease showed lactate and choline increase and decreased NAA, reflecting neuronal and axonal loss, gliosis and elevated membrane turnover and recent - crisis (not controlled. MR studies, in addition to help in diagnosis, may be useful for monitoring metabolic changes and progression of disease in Rasmussen's encephalitis.A encefalite de Rasmussen é uma devastadora síndrome com disfunção cerebral multifocal e convulsões focais. Achados de ressonância magnética (RM, associados aos dados clínicos e de eletrencefalograma (EEG, podem indicar o diagnóstico e podem ser indicativos de prognóstico. Foram estudados 5 pacientes com encefalite de Rasmussen, avaliando a história clínica e imagens de RM. Todos os pacientes apresentavam crises epilépticas focais refratárias com componente predominantemente motor associadas à atrofia hemisférica, que foi proporcional à gravidade da doença e déficits neurológicos nestes pacientes. Alteração da intensidade de sinal nas substâncias branca e cinzenta, nas sequências ponderadas em T2, foram encontradas nos pacientes com hemiparesia. Ela não estava relacionada com a duração da doença, mas à severidade. A espectroscopia de pr

Clinical X-ray characteristics of some forms of hematogenous vertebral body osteomyelitis in children and adolescents

International Nuclear Information System (INIS)

Sizov, V.A.

1988-01-01

Clinico-roentgenological changes in dynamics are studied in 72 children and adolescents with a limited hematogenous vertebrae body osteomyelitis. The clinico-roentgenologic examination lasted from 1 to 15 years. Such a durable examination permitted to trace the development, regularities and remote results of the disease. The increase in vertebrae body height (lengthening) which is considered a pathognomonic sign of tuberculous spondylitis is described for the first time. Unlike tuberculosis, hematogenous spondylitis brings about the body lengthening of both ajacent nonaffected and affected vertebrae in the case of their surface or limited focal injury. 12 refs.; 1 fig

Folkets mand

DEFF Research Database (Denmark)

Birkholm, Klavs; Lasch, Christopher

2016-01-01

Genudgivelsen på dansk af Christopher Lasch' hovedværk "The True And Only Heaven" har med rette fået den nye titel "Populismen". Det er elitens betegnelse for enhver modstand mod "deres fremskridt"...

Cryptococcus gattii fungemia: report of a case with lung and brain lesions mimicking radiological features of malignancy Fungemia por Cryptococcus gattii: relato de um caso com lesões cerebrais e pulmonares nos achados radiológicos mimetizando câncer

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Flávio de Mattos Oliveira

2007-08-01

Full Text Available A 64-year-old apparently immunocompetent white man developed lung and brain lesions of disseminated cryptococcosis. The radiologic features mimicked those of lung cancer metastatic to the central nervous system. C. gattii was recovered from cultures of bronchoalveolar lavage fluid, brain biopsy, and blood. The same fungus was recovered from pulmonary and brain specimens at autopsy. Serum and cerebrospinal fluid cryptococcal antigen tests were diagnostic in our case and should be included in the diagnostic evaluation of unexplained pulmonary and cerebral lesions. A literature search showed few reports of fungemia by this species of Cryptococcus, contrasting to C. neoformans.Homem branco de 64 anos, aparentemente imunocompetente, desenvolveu lesões pulmonares e cerebrais por criptococose disseminada. Os achados radiológicos foram similares àqueles encontrados em pacientes com câncer de pulmão e metástase no sistema nervoso central. C. gattii foi isolado de cultivos de lavado broncoalveolar, biópsia cerebral e sangue. O mesmo fungo foi encontrado em fragmentos pulmonares e cerebrais obtidos da autópsia. Testes de antígeno no soro e no líquido cefalorraquidiano foram diagnóstico no nosso caso e devem ser incluídos na avaliação diagnóstica de lesões pulmonares e cerebrais indefinidas. Pesquisa na literatura mostrou poucos relatos de fungemia por esta espécie de Cryptococcus, contrastando com C. neoformans.

Glutathione S-transferase M1 and T1, CYP1A2-2467T/delT ...

African Journals Online (AJOL)

Bв€™chir Fatma

2012-06-16

Jun 16, 2012 ... tion of tobacco carcinogens and may therefore affect lung cancer risk. In order to assess ... E-mail address: bchirfatma@hotmail.fr (B. Fatma). Peer review under .... rette smoked and the mean daily cigarettes smoked.

Disgenesia do corpo caloso e más-formações associadas: achados de tomografia computadorizada e ressonância magnética Dysgenesis of the corpus callosum and associated malformations: computed tomography and magnetic resonance imaging findings

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Cristiano Montandon

2003-10-01

Full Text Available O termo disgenesia do corpo caloso refere-se a uma má-formação deste com origem na embriogênese do telencéfalo. O relato analisa os achados de tomografia computadorizada e ressonância magnética em 11 pacientes com disgenesia calosa e em um caso de corpo caloso normal com lipoma associado. Esta pode ser distinguida em três grupos: agenesia total (três casos, agenesia parcial (seis casos e hipoplasia (dois casos. Anomalias associadas foram observadas em nove casos, incluindo má-formação de Chiari tipo II (um caso, esquizencefalia (um caso, cisto inter-hemisférico (dois casos, heterotopia nodular (um caso, cisto de Dandy-Walker (um caso e lipoma do corpo caloso (quatro casos. Este artigo demonstra um espectro destes distúrbios, auxiliando na sua interpretação diagnóstica.Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients, partial agenesis (six patients and hypoplasia (two patients. Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient, schizencephaly (one patient, interhemispheric cyst (two patients, Dandy-Walker cyst (one patient, nodular heterotopy (one patient and lipoma of the corpus callosum (four patients. This paper presents a review that may contribute to the diagnosis of these disorders.

Evaluation of c-kit expression in classic Kaposi's sarcoma in a cohort of Egyptian patients

International Nuclear Information System (INIS)

Hussein, T.M.; El-Sabaa, B.M.; Hanafy, N.F.

2012-01-01

Kaposis sarcoma (KS) is in angio proliferative disorder associated with human herpes virus 8 infection. Classic Ks is the most prevalent type of KS in countries of the Mediterranean basin including Egypt. Several in vitro studies have detected C-kit expression in AIDS related-KS however, only a few studies addressed this Issue In the classic type with no data on the ethnicity of studied cases. The prospect of installing targeted anti-c-kit treatment to KS patients presents a promising avenue in KS therapeutics. Aim: To elucidate the expression of c-kit in classic KS cases and study possible relations with expression of HHV8 latency-associated nuclear antigen-1 (LANA-1) and other clinico pathological parameters. Methods: Twenty four cases of classic KS of the plaque and nodular stages in the lower limb were studied. Immunohistochemical detection of HHV8-LANA-1 and c-kit was carried out on archival paraffin embedded tissue, possession of the pathology and dermatology Departments, Alexandria School Of Medicine, Egypt. Statistical analysis of possible reltions between both antigen and clinico pathological parameters (patient age and gender and histological stage) was performed. Results: HHV8 expression was detected in 100% of cases while c-kit immunoreactivity was found in 54.2% of cases. There was no correlation between c-kit and HHV8 immunoreactivity or any of the studied clinico pathological parameters. Conclusions: This is the first report of c-kit expression in classic KS in an ethnically homogeneous cohort of arabs of the Mediterranean region. We detected c-kit expression in about half the cases with no relationship to HHV8 LANA expression or clinico pathological parameters

Achados na triagem imitanciométrica e de processamento auditivo em escolares Acoustic immitance and auditory processing screening findings in school children

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Camila Lucia Etges

2012-12-01

Full Text Available OBJETIVOS: verificar os achados da triagem imitanciométrica e dos testes da avaliação simplificada de processamento auditivo em escolares. MÉTODO: participaram da pesquisa alunos de 1ª a 4ª séries, de sete a dez anos de idade, de uma escola de ensino público de Porto Alegre. Foram avaliados 130 escolares na triagem imitanciométrica, que foi constituída por timpanometria e pesquisa do reflexo acústico ipsilateral e avaliação simplificada do processamento auditivo, incluindo testes de localização sonora, memória sequencial para sons verbais e memória sequencial para sons não verbais. RESULTADOS: na triagem imitanciométrica 43,08% dos escolares passaram, tendo a curva tipo A como mais frequente. O reflexo acústico em 4000 Hz teve percentual de presença inferior comparado com os demais. Passaram nos testes da avaliação simplificada do processamento auditivo 76,15% das crianças. Além disso, foi observado que o teste no qual os escolares obtiveram pior desempenho foi o de memória sequencial para sons verbais. Falharam na triagem imitanciométrica e na avaliação simplificada de processamento auditivo 12,3% dos escolares. CONCLUSÃO: a curva timpanométrica tipo A foi a mais frequente na população estudada. Na avaliação simplificada do processamento auditivo a maioria dos sujeitos passou, tendo maior frequência de acertos no teste de localização sonora. Não houve associação estatística entre o resultado da triagem imitanciométrica e o resultado da avaliação simplificada de processamento auditivo.PURPOSE: to check acoustic immittance screening findings and results of the simplified evaluation of auditory processing in school children. METHOD: the subjects under this study were students from the 1st to the 4th grade, with ages ranging from seven to ten year-old, from a public school in Porto Alegre. 130 students were evaluated in the immitance screening, which consisted of a tympanometry and an ipsilateral

Treatment of autistic spectrum disorder with insulin-like growth factors.

Science.gov (United States)

Riikonen, Raili

2016-11-01

There are no treatments for the core symptoms of autistic spectrum disorder (ASD), but there is now more knowledge on emerging mechanisms and on mechanism-based therapies. In autism there are altered synapses: genes affected are commonly related to synaptic and immune function. Dysregulation of activity-dependent signaling networks may have a key role the etiology of autism. There is an over-activation of IGF-AKT-mTor in autism spectrum disorders. Morphological and electro-physiological defects of the cerebellum are linked to system-wide ASD-like behavior defects. The molecular basis for a cerebellar contribution has been demonstrated in a mouse model. These have led to a potential mechanism-based use of drug targets and mouse models. Neurotrophic factors are potential candidates for the treatment. Insulin-like growth factor-1 (IGF-1) is altered in autism. It reduces neuro-inflammation: by causing changes of cytokines such as IL-6 and microglial function. IGF-1 reduces the defects in the synapse. It alleviates NMDA-induced neurotoxicity via the IGF-AKT-mTor pathway in microglia. IGF-1 may rescue function in Rett syndrome and ASD caused by changes of the SCHANK3 gene. There are recently pilot studies of the treatment of Rett syndrome and of SCHANK3 gene deficiency syndromes. The FDA has granted Orphan drug designations for Fragile X syndrome, SCHANK3 gene deficiency syndrome and Rett syndrome. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Precisão do diagnóstico clínico da síndrome do desconforto respiratório agudo quando comparado a achados de necropsia Accuracy of clinical diagnosis of acute respiratory distress syndrome in comparison with autopsy findings

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Bruno Valle Pinheiro

2007-08-01

Full Text Available OBJETIVO: Comparar a definição de síndrome do desconforto respiratório agudo (SDRA estabelecida pela American-European Consensus Conference (AECC, Conferência Americano-Européia com achados de necropsia. MÉTODOS: Avaliaram-se todos os pacientes que morreram na unidade de terapia intensiva do Hospital Universitário da Universidade Federal de Juiz de Fora entre 1995 e 2003 e que foram submetidos à necropsia. Seus prontuários foram revisados para estabelecer a presença ou não dos critérios clínicos de SDRA, cujo diagnóstico histológico foi definido pela presença de dano alveolar difuso (DAD. RESULTADOS: No período, 592 pacientes faleceram e 22 foram submetidos à necropsia. Destes, 10 pacientes (45% preencheram os critérios de SDRA pela AECC e sete (32% preencheram os critérios histopatológicos de DAD. A sensibilidade da definição clínica foi de 71% (IC95%: 36-92% e a especificidade foi de 67% (IC95%: 42-85%. Os valores preditivos positivo e negativo foram, respectivamente, 50 e 83%; e as razões de verossimilhança positiva e negativa foram, respectivamente, 2,33 e 0,47. Os achados histopatológicos nos cinco pacientes que preencheram os critérios clínicos de SDRA, mas não apresentavam DAD, foram pneumonia (n = 2, embolia pulmonar (n = 1, tuberculose (n = 1 e criptococose (n = 1. CONCLUSÃO: A precisão dos critérios da AECC para diagnóstico de SDRA não é tão boa. Em função do baixo valor preditivo positivo e da baixa razão de verossimilhança positiva do diagnóstico clínico, outras hipóteses devem ser consideradas quando há suspeita de SDRA.OBJECTIVE: To compare the American-European Consensus Conference (AECC definition of acute respiratory distress syndrome (ARDS to autopsy findings. METHODS: All patients who died in the intensive care unit of the Federal University of Juiz de Fora University Hospital between 1995 and 2003 and were submitted to autopsy were included in the study. Patient clinical charts

Achados oftalmológicos em 28 crianças portadoras da seqüência de Möebius Möebius sequence: clinical ophthalmological findings in 28 cases

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Laura Patrícia Ferreira Santos

2004-08-01

Full Text Available OBJETIVO: Analisar os principais achados oftalmológicos encontrados em uma série de casos de seqüência de Möebius. MÉTODOS: Foram estudados 28 pacientes com o diagnóstico de seqüência de Möebius, atendidos em três centros oftalmológicos de referência do Estado de Pernambuco, Brasil. RESULTADOS: Foi observado: presença de epicanto em 25 pacientes (89,3%, blefaroptose em 14 (50,0%, ceratopatia de exposição em cinco (17,8% e alteração do reflexo de Bell em três (11,1%. A acuidade visual monocular variou de 0,03 a 1. Deficiência da acuidade visual esteve presente em 13 pacientes (46,4%. A ametropia mais encontrada foi o astigmatismo, diagnosticado em 33 olhos (58,9% do total de 56 examinados. Na posição primária do olhar, 16 pacientes (57,2% apresentaram esotropia, 2 (7,1% apresentaram exotropia e 7 (25,0% ortotropia. O exame de fundo de olho foi normal em 26 pacientes (92,8%. CONCLUSÃO: Foi observado que os pacientes portadores da seqüência de Möebius apresentavam alterações oftalmológicas importantes no que diz respeito à presença de deficiência da acuidade visual, desvio ocular, ceratopatia de exposição e ametropias. Sugere-se que esses pacientes sejam avaliados precocemente por um oftalmologista, visando o diagnóstico e tratamento adequado.PURPOSE: To evaluate the clinical ophthalmological findings in Möebius sequence patients. Methods: Twenty-eight Möebius sequence patients were studied at three ophthalmological centers in Pernambuco state, Brazil. RESULTS: Bilateral epicanthus was found in 25 patients (89.3%, ptosis in 14 (50.0%, corneal opacities from exposure in 5 (17.8% and diminished Bell's reflex in 3 (10.7%. Monocular visual acuity varied from 0.03 to 1. Visual acuity deficiency was detected in 13 patients (46.4%. The most frequent refractive error was astigmatism. It was observed in 33 eyes (58.9%. At the primary position, 16 patients (57.2% had esotropia, 2 (7.1% had exotropia and 7 (25.0% had

Miopatia miotubular ou centronuclear: relato de caso e revisão da literatura

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Roscicler Pereira de Sousa

1977-09-01

Full Text Available É relatado um caso de miopatia miotubular ou centronuclear em paciente de 13 anos de idade, do sexo masculino, com história de hipotonia e ptose palpebral congênitas. Estudos clínicos, eletromiográficos e anátomopatológicos (inclusive microscopia eletrônica evidenciaram achados comparáveis aos encontrados na revisão bibliográfica. São também discutidos os diagnósticos diferenciais e os achados de microscopia eletrônica.

Prevalência de carbapenemases em enterobactérias resistentes a carbapenêmicos em quatro hospitais terciários de Porto Alegre [Prevalence of carbapenemases in carbapenem-resistant Enterobacteriaceae in four tertiary care hospitals in Porto Alegre

Directory of Open Access Journals (Sweden)

Fabio de Moura Pinto

2014-04-01

Conclusão: KPC foi a carbapenemase mais frequentemente detectada. A circulação de uma enzima OXA-48-like foi demonstrada, um achado novo e preocupante em nosso meio. A disseminação persistente da carbapenemase NDM foi também outro achado perturbador do estudo. A positividade maior para carbapenemases enalteceu a importância da estratégia de culturas de vigilância. Esses dados e outros estudos poderão contribuir para um entendimento maior da epidemiologia das ERC.

The autistic spectrum: subgroups, boundaries, and treatment.

NARCIS (Netherlands)

Swinkels, S.H.N.

2002-01-01

There is consensus about the disorders that comprise the autistic spectrum, with autistic disorder, Asperger's disorder, and PDD-NOS as the most typical examples and Rett's disorder and disintegrative disorder as the other components. Important controversies regarding the precise definitions of

Om lidt er der gået 100 år

DEFF Research Database (Denmark)

Farø, Ken Joensen

2012-01-01

Artiklen undersøger frasen "om lidt" for sprogforandring mht. betydning. Den konstaterer et frekvent, systematisk betydningsskred (udvidelse) hen imod en ekstra betydning 'om et relativt kort tidsrum, som imidlertid kan være årmillioner mod den rette folie'...

Triagem pré-participação com ECG em recrutas militares

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Alon Grossman

2013-03-01

Full Text Available FUNDAMENTO: Os achados e investigações adicionais necessários com base na triagem pré-participação com eletrocardiograma (ECG entre os recrutas militares estão mal definidos na literatura. OBJETIVOS: Este estudo foi elaborado para avaliar a taxa de achados anormais na triagem pré-participação com ECG em adultos jovens e as avaliações adicionais necessárias com base nestes resultados. MÉTODOS: Um estudo de coorte retrospectivo foi realizado no centro aero-médico da Força Aérea de Israel (IAF, para candidatos das unidades das academias de voo e de tropa s de elite. Os candidatos das unidades das Academias de voo e de elite passam por uma triagem pré-participação com ECG antes do alistamento nas Forças de Defesa de Israel (IDF. Desde 2010, todos os ECGs são realizados no centro aero-médico da IAF. Todos os ECGs realizados desde janeiro de 2010 foram analisados por um de três cardiologistas e todos aqueles nos quais resultados significativos foram identificados foram encaminhados para uma avaliação mais detalhada, a pedido do cardiologista. As causas de encaminhamento para avaliação posterior, as avaliações realizadas e os resultados dessas avaliações são notificados para a população de estudo. RESULTADOS: 1.455 ECGs foram realizados nos anos 2010-2011. Desses, 1.388 (95,39% foram interpretadas como normais. 67 indivíduos foram encaminhados para uma avaliação mais detalhada com base nos achados do ECG. Os achados mais comuns levando a uma avaliação mais detalhada foram alterações da onda T (16 casos, 23,88%, padrão de pré-excitação (14, 20,89% e critérios de voltagem para hipertrofia ventricular esquerda (11; 16,41%. Apenas 7 indivíduos (10,44% tinham resultados anormais que foram considerados clinicamente significativos no final da avaliação médica. CONCLUSÕES: A taxa de achados significantes levando à desqualificação para a atividade militar é extremamente baixa e o encaminhamento para

Infecção por Cryptococcus limitada à próstata em paciente aidético com micobacteriose disseminada. Relato de necropsia

OpenAIRE

Lima, Marcus Aurelho de; Santos, Jenner A. Modesto dos; Lazo, Javier; Silva-Vergara, Mario León; Santos, Lister A. Modesto dos; Santos, Vitorino Modesto dos

1997-01-01

Relata-se caso de infecção criptocócica confinada à próstata, como achado de necropsia, em homem de 32 anos portador da síndrome da imunodeficiência adquirida (SIDA) com micobacteriose disseminada. Enfatiza-se a importância do achado incidental em necropsia e a persistência dessa infecção micótica na próstata.This is a case report of asymptomatic and restrained cryptococcal prostatic infection in a 32-year old black male with the acquired immunodeficiency syndrome, whose death was caused by s...

Osteossarcoma parosteal: aspectos na radiologia convencional

OpenAIRE

Nanci Neto,Francisco; Marchiori,Edson; Vianna,Alberto Domingues; Aymoré,Ierecê Lins; Almeida,Ana Luiza Brito de; Irion,Klaus L.; Collares,Felipe Birchal

2007-01-01

OBJETIVO: Avaliar os achados clínicos mais importantes do osteossarcoma parosteal e descrever os seus aspectos mais comuns na radiologia convencional. MATERIAIS E MÉTODOS: Estudo retrospectivo com 26 pacientes com osteossarcoma parosteal, provenientes do arquivo do Clube do Osso, Rio de Janeiro, RJ, e análise dos principais achados clínicos e aspectos radiológicos. RESULTADOS: A doença predominou em pacientes do sexo feminino e teve idade média de acometimento na terceira década de vida. Os a...

Establishment and identification of a rabbit model of peritoneal carcinomatosis from gastric cancer

International Nuclear Information System (INIS)

Mei, Lie-Jun; Yang, Xiao-Jun; Tang, Li; Hassan, Alaa Hammed al-shammaa; Yonemura, Yutaka; Li, Yan

2010-01-01

Gastric cancer peritoneal carcinomatosis is a common clinical problem, but there are no suitable large animal models to study this problem. This study was to establish a stable rabbit peritoneal carcinomatosis model of gastric cancer using VX2 tumor, and analyze the clinico-pathological features. VX2 tumor was implanted into 36 New Zealand rabbits by 3 methods: laparotomic orthotopic injection of cancer cells into the submucosal layer of the stomach (Group A), laparotomic implantation of tumor tissue into the greater omentum immediately beneath the gastric antrum (Group B), and percutaneous injection of tumor cells directly into the peritoneal cavity (Group C), 12 rabbits in each group. The animals were closely observed and detailed clinico-pathological studies were conducted. The success rates of peritoneal carcinomatosis formation were 100% (12/12), 91.7% (11/12) and 58.3% (7/12), respectively, for Groups A, B and C (P = 0.019, A versus C; P = 0.077, B versus C; P = 0.500, A versus B, Fisher's exact test). Two weeks after submucosal cancer cells injection in Group A, ulcerative gastric cancer with peritoneal carcinomatosis showed typical VX2 tumor pathology, with widespread intraperitoneal metastatic nodules, bloody ascites and perspicuous pulmonary metastases. The clinico-pathological progression pattern was very similar to patients of advanced gastric cancer with peritoneal carcinomatosis. Groups B and C showed similar pattern of cancer progression, but less aggressive. First large animal model of peritoneal carcinomatosis from gastric cancer has been established by laparotomic orthotopic injection of VX2 cancer cells into the submucosal layer of the stomach, providing a more suitable model for surgical interventional studies. The clinico-pathological features of this model resemble human peritoneal carcinomatosis

Audiometria de resposta evocada de acordo com sexo e idade: achados e aplicabilidade Evoked response audiometry according to gender and age: findings and usefulness

Directory of Open Access Journals (Sweden)

Edmir Américo Lourenço

2008-08-01

Full Text Available A audiometria de respostas evocadas (ABR é um registro não-invasivo de potenciais elétricos auditivos nos primeiros 12 milissegundos, da orelha média ao córtex auditivo. ABR é importante na avaliação otoneurológica. OBJETIVO: Esclarecer as utilidades do exame, faixas etárias e sexo com maior incidência e topodiagnóstico segundo as latências absolutas e os intervalos interpicos. CASUÍSTICA E MÉTODO: Neste estudo retrospectivo foram analisados 403 prontuários de ABR realizados em clínica particular na cidade de Jundiaí/SP, Brasil, suspeitos de alteração auditiva e/ou doença do SNC, com os pacientes divididos por sexo e faixa etária. RESULTADOS E CONCLUSÕES: ABR é um importante exame para determinar a integridade da via auditiva, limiares eletrofisiológicos e topodiagnóstico, embora o teste não indique a etiologia das alterações. Foi demonstrado que ocorreu maior incidência de achados retrococleares na faixa etária de 12-20 anos e sexo masculino, contudo crianças menores de um ano com fatores de risco não apresentaram um aumento na incidência de alterações condutivas, cocleares e retrococleares em relação à população geral estudada. As latências absolutas das ondas I, III e V foram maiores no sexo masculino e as alterações dos intervalos interpicos foram similares em ambos os sexos, sendo que o intervalo I-III foi o mais freqüentemente alterado.Auditory evoked brainstem responses (ABR is a non-invasive electrical potential registration which evaluates the auditory tract from the middle ear to the auditory cortex in the first 12 milliseconds (ms. The ABR is an important otoneurological evaluation. AIM: confirm the test's usefulness, major incidence and topography according to are range gender considering the absolute latencies of the waves and interpeak intervals. MATERIALS AND METHOD: we retrospectively analyzed 403 tests from a private clinic in the city of Jundiaí-São Paulo State-Brazil, from

Correlação dos achados tomográficos com parâmetros de função pulmonar na fibrose pulmonar idiopática em não fumantes Correlation of tomographic findings with pulmonary function parameters in nonsmoking patients with idiopathic pulmonary fibrosis

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Agnaldo José Lopes

2007-12-01

Full Text Available OBJETIVO: Correlacionar os achados tomográficos com os parâmetros de função pulmonar em portadores de fibrose pulmonar idiopática (FPI. MÉTODOS: Foi realizado um estudo de corte transversal, em que foram avaliados 30 pacientes não tabagistas, portadores de FPI. Utilizando um sistema de escore semiquantitativo, os seguintes achados na tomografia computadorizada de alta resolução (TCAR foram quantificados: extensão total da doença intersticial (Tot, infiltrado reticular e faveolamento (Ret+Fav, e opacidade em vidro fosco (Vif. As variáveis funcionais foram mensuradas através de espirometria, técnica de oscilações forçadas (TOF, método da diluição com hélio e método da respiração única para medir a capacidade de difusão do monóxido de carbono (DLCO. RESULTADOS: Dos 30 pacientes estudados, 18 eram mulheres e 12 eram homens, com média de idade de 70,9 anos. Foram encontradas correlações significativas de Tot e Ret+Fav com as medidas de capacidade vital forçada (CVF, capacidade pulmonar total (CPT, DLCO e complacência dinâmica do sistema respiratório (correlações negativas, e de Vif com volume residual/CPT (correlação positiva. A relação fluxo expiratório forçado entre 25 e 75% da CVF/CVF (FEF25-75%/CVF correlacionou-se positivamente com Tot, Ret+Fav e Vif. CONCLUSÕES: Em portadores de FPI, as medidas de volume, difusão e complacência dinâmica são as variáveis fisiológicas que melhor refletem a extensão da doença intersticial na TCAR.OBJECTIVE: To correlate tomographic findings with pulmonary function parameters in patients with idiopathic pulmonary fibrosis (IPF. METHODS: A cross-sectional study was carried out, in which 30 nonsmoking patients with IPF were evaluated. Using a semiquantitative scoring system, the following high-resolution computerized tomography (HRCT findings were quantified: total interstitial disease (TID, reticular abnormality/honeycombing, and ground-glass opacity (GGO. The

Commentary: Potential Neurobiologic Mechanisms through Which Metabolic Disorders Could Relate to Autism.

Science.gov (United States)

Johnston, Michael V.

2000-01-01

To illustrate the possible relationships between metabolic disorders and autism, this commentary reviews findings from studies on the characteristics of individuals with Rett syndrome that indicate the genetic mechanism of transcriptional dysregulation can produce pathologic phenotypes which resemble metabolic disorders that stunt axonodendritic…

Clinical phenotype of 5 females with a CDKL5 mutation

NARCIS (Netherlands)

Stalpers, X.L.; Spruijt, L.; Yntema, H.G.; Verrips, A.

2012-01-01

Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor

Special Operations can Increase Denmark’s Strategic Options

DEFF Research Database (Denmark)

Jensen, Lars H. Ehrensvärd

Dette tredje brief om danske specialoperationer fokuserer på specialoperationers mulige strategiske rolle under krisestyring og I konflikter. Specialoperationer bør principielt altid rettes mod en modstanders strategiske tyngdepunkt og sårbarheder. At bidrage til konfliktforebyggelse eller løsnin...

Solving the puzzle of neurological diseases: an interview with Huda Zoghbi

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Huda Y. Zoghbi

2017-05-01

Full Text Available Huda Zoghbi's achievements in the field of neurology are internationally acclaimed. She is best known for elucidating the genetic basis of two complex neurological disorders, spinocerebellar ataxia type 1 and Rett syndrome, and has been honored with many prizes, including The Shaw Prize in Life Science and Medicine in 2016 and the 2017 Breakthrough Prize for Life Sciences. A diligent and creative research scientist at the bench, a respected lab mentor and founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, her inspiration has always been the burning need to help patients faced with devastating neurological problems. Her pursuit of the mechanisms mediating spinocerebellar ataxia and Rett syndrome has been dogged, requiring 30 years of focused effort. As highlighted in this interview, her work is now paying dividends by starting to reveal potential therapeutic targets for these intractable and complex disorders.

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.

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Rusconi, Laura; Salvatoni, Lisa; Giudici, Laura; Bertani, Ilaria; Kilstrup-Nielsen, Charlotte; Broccoli, Vania; Landsberger, Nicoletta

2008-10-31

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome (RTT), West syndrome, and X-linked infantile spasms, sharing the common feature of mental retardation and early seizures. CDKL5 is a rather uncharacterized kinase, but its involvement in RTT seems to be explained by the fact that it works upstream of MeCP2, the main cause of Rett syndrome. To understand the role of this kinase for nervous system functions and to address if molecular mechanisms are involved in regulating its distribution and activity, we studied the ontogeny of CDKL5 expression in developing mouse brains by immunostaining and Western blotting. The expression profile of CDKL5 was compared with that of MeCP2. The two proteins share a general expression profile in the adult mouse brain, but CDKL5 levels appear to be highly modulated at the regional level. Its expression is strongly induced in early postnatal stages, and in the adult brain CDKL5 is present in mature neurons, but not in astroglia. Interestingly, the presence of CDKL5 in the cell nucleus varies at the regional level of the adult brain and is developmentally regulated. CDKL5 shuttles between the cytoplasm and the nucleus and the C-terminal tail is involved in localizing the protein to the cytoplasm in a mechanism depending on active nuclear export. Accordingly, Rett derivatives containing disease-causing truncations of the C terminus are constitutively nuclear, suggesting that they might act as gain of function mutations in this cellular compartment.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Science.gov (United States)

Fehr, Stephanie; Wilson, Meredith; Downs, Jenny; Williams, Simon; Murgia, Alessandra; Sartori, Stefano; Vecchi, Marilena; Ho, Gladys; Polli, Roberta; Psoni, Stavroula; Bao, Xinhua; de Klerk, Nick; Leonard, Helen; Christodoulou, John

2013-03-01

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant.

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.

Science.gov (United States)

Bertani, Ilaria; Rusconi, Laura; Bolognese, Fabrizio; Forlani, Greta; Conca, Barbara; De Monte, Lucia; Badaracco, Gianfranco; Landsberger, Nicoletta; Kilstrup-Nielsen, Charlotte

2006-10-20

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation. Disease-causing mutations are distributed in both the catalytic domain and in the large COOH terminus. In this report, we examine the functional consequences of some Rett mutations of CDKL5 together with some synthetically designed derivatives useful to underline the functional domains of the protein. The mutated CDKL5 derivatives have been subjected to in vitro kinase assays and analyzed for phosphorylation of the TEY (Thr-Glu-Tyr) motif within the activation loop, their subcellular localization, and the capacity of CDKL5 to interact with itself. Whereas wild-type CDKL5 autophosphorylates and mediates the phosphorylation of the methyl-CpG-binding protein 2 (MeCP2) in vitro, Rett-mutated proteins show both impaired and increased catalytic activity suggesting that a tight regulation of CDKL5 is required for correct brain functions. Furthermore, we show that CDKL5 can self-associate and mediate the phosphorylation of its own TEY (Thr-Glu-Tyr) motif. Eventually, we show that the COOH terminus regulates CDKL5 properties; in particular, it negatively influences the catalytic activity and is required for its proper sub-nuclear localization. We propose a model in which CDKL5 phosphorylation is required for its entrance into the nucleus whereas a portion of the COOH-terminal domain is responsible for a stable residency in this cellular compartment probably through protein-protein interactions.

Autism Spectrum Disorders (Pervasive Developmental Disorders)

Science.gov (United States)

Strock, Margaret

2007-01-01

This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…

Deglutição com e sem comando verbal: achados videofluoroscópicos Swallowing with and without verbal commands: videofluoroscopy findings

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Rita de Cássia de Araújo Almeida

2011-09-01

Full Text Available OBJETIVO: Caracterizar a deglutição de consistências e quantidades alimentares diferentes, com e sem comando verbal, por meio da videofluoroscopia da deglutição. MÉTODOS: Estudo quantitativo, transversal e observacional em 40 indivíduos sadios e sem queixas de deglutição, realizado no período de janeiro a março de 2010. A média de idade dos indivíduos foi de 23 anos e 5 meses (DP±2,5, com idade mínima de 20 anos e máxima de 30 anos, sendo 87,5% (35/40 do gênero feminino. Realizou-se avaliação videofluoroscópica da deglutição com ingestão de bário nas consistências líquida, líquido-pastosa, pastosa e sólida. Durante a administração da consistência líquida, realizaram-se duas provas de deglutição, uma com e outra sem comando verbal. Foram analisados o local do início da fase faríngea da deglutição em diferentes estruturas, a perda prematura do alimento, o aumento do tempo de trânsito oral, a presença de deglutições múltiplas, a presença de estase alimentar e a presença de penetração e/ou aspiração laríngea nas duas situações. RESULTADOS: O início da fase faríngea ocorreu na base da língua e valéculas para a maioria das consistências e quantidades, com exceção da líquida (5 ml cuja deglutição foi ativada em valéculas. Não houve influência do comando verbal para o local do início da fase faríngea da deglutição e presença de estase alimentar, entretanto o comando foi eficaz para a diminuição dos achados orofaríngeos. CONCLUSÃO: A fase faríngea da deglutição ocorreu em base de língua e valéculas. Houve influência do comando verbal na dinâmica da deglutição.Purpose: To characterize the swallowing process of different food consistencies and quantities, with and without verbal commands, through videofluoroscopy. METHODS: Quantitative cross-sectional, observational study held in the period between January and March 2010 with 40 healthy subjects with no apparent signs of

Persistência hiperplástica do vítreo primitivo: avaliação por métodos de imagem

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Jacob Beatriz Mahmud

2003-01-01

Full Text Available Persistência hiperplásica do vítreo primitivo (PHVP é um desenvolvimento anormal, afetando crianças, resultante da falha de regressão do vítreo primitivo e dos vasos hialóides, com proliferação de tecido conectivo. A PHVP pode ter três variações: uma anterior, outra posterior e uma terceira com a combinação das duas. Clinicamente manifesta-se como leucocoria (reflexo branco pupilar em um olho de dimensões reduzidas. Esta anomalia é usualmente unilateral e não associada com outros achados sistêmicos. Leucocoria, descolamento de retina, pregas retinianas e catarata podem confundir PHVP com outras afecções oculares que têm achados semelhantes. Retinoblastoma, catarata congênita, retinopatia da prematuridade e pseudogliomas são doenças com achados semelhantes aos da PHVP. A visualização direta dos remanescentes do sistema vascular hialóide fetal é a melhor evidência da lesão presente, se não fosse, muitas vezes impossivel, à fundoscopia, devido à opacidade do tecido. Nestes casos, a visualização indireta, por meio de ultra-sonografia, tomografia computadorizada e ressonância magnética, fornece o diagnóstico. As imagens obtidas por estes métodos proporcionam, ainda, informações e diagnóstico diferencial com outras doenças, particularmente com o retinoblastoma. Os autores fazem uma revisão na literatura e apresentam um estudo iconográfico das imagens e achados da PHVP.

Genetic and Medical Considerations of Autism: A Literature Review.

Science.gov (United States)

Silver, Kathi O.

This literature review, from 1990 to the present, discusses the characteristics of autism and the comorbidity of mental retardation and autism. Specific medical syndromes that complement the heterogeneity concept are described, including epilepsy, fragile X syndrome, Rett syndrome, tuberous sclerosis, and Asperger syndrome. The paper presents some…

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

NARCIS (Netherlands)

Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Romein, T.; Sistermans, E.A.; Nillessen, W.; Bokhoven, J.H.L.M. van; Vries, L.B.A. de; Hamel, B.C.J.

2002-01-01

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental

Melatonin in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis

Science.gov (United States)

Rossignol, Daniel A.; Frye, Richard E.

2011-01-01

Aim: The aim of this study was to investigate melatonin-related findings in autism spectrum disorders (ASD), including autistic disorder, Asperger syndrome, Rett syndrome, and pervasive developmental disorders, not otherwise specified. Method: Comprehensive searches were conducted in the PubMed, Google Scholar, CINAHL, EMBASE, Scopus, and ERIC…

Mecp2 deficiency leads to altered Htr2c pre-mRNA editing and HTR2C isoform distribution in mouse hippocampus and cerebellum

Science.gov (United States)

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in MECP2, a methyl-CpG binding protein and transcriptional repressor. CpG methylation plays an important role in genomic imprinting since imprinted genes are regulated by regions of differentially methylated CpGs (or ICs). A ...

Achados Ultra-Sonográficos em Pacientes com Ameaça de Abortamento no Primeiro Trimestre da Gestação Ultrasound Findings in First-trimester Threatened Abortion

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Luiz Carlos Watanabe

2000-06-01

Full Text Available Objetivo: avaliar os achados ultra-sonográficos nas gestantes com ameaça de abortamento no primeiro trimestre da gestação. Métodos: exames de ultra-som obstétrico transabdominal e transvaginal foram realizados nas pacientes com sangramento vaginal e teste de gravidez positivo. Foram incluídas as gestantes entre 6 a 14 semanas de gestação pela data da última menstruação ou pelo exame ultra-sonográfico, que apresentavam colo do útero impérvio ao exame clínico. Foram excluídas as gestações múltiplas ou aquelas que realizaram tentativa de abortamento por meio de drogas ou manipulação. Resultados: em 132 dos 247 casos (53.4% foi diagnosticada gestação viável e em 46.6% (115/247, gestação inviável. Abortamento incompleto foi identificado em 19% (47/247, abortamento completo em 8,5% (21/247, abortamento retido em 7,7% (19/247, gestação anembrionada em 6,1% (15/247, gestação ectópica em 4,5% (11/247 e mola hidatiforme em 0,8% (2/247. Conclusão: aproximadamente metade (46,6% das gestações com ameaça de abortamento no primeiro trimestre apresentaram diagnóstico de inviabilidade da gestação. O exame ultra-sonográfico pode ajudar a definir esta condição e a conduta obstétrica.Objective: to evaluate ultrasound findings in pregnant women with threatened abortion in the first trimester of pregnancy. Methods: transabdominal and transvaginal ultrasound scans were performed in patients with vaginal bleeding with previous positive pregnancy test. Patients with 6-14-week gestation (by the last menstrual period or ultrasound scan, with closed cervix on clinical evaluation were included. Multiple pregnancies and those patients who have tried abortion by using abortive drugs or manipulation were excluded. Results: in 132 of 247 (53.4% the pregnancy was viable and in 46.6% (115/247 the pregnancy was nonviable. Incomplete miscarriage was found in 19% (47/247, complete miscarriage in 8.5% (21/247, missed abortion in 7.7% (19

[The optimization of an early rehabilitation program for cerebral stroke patients: the use of different methods of magneto- and laser therapy].

Science.gov (United States)

Kochetkov, A V; Gorbunov, F E; Minenkov, A A; Strel'tsova, E N; Filina, T F; Krupennikov, A I

2000-01-01

Magnetotherapy and laser therapy were used in complex and complex-combined regimens in 75 patients after cerebral ischemic or hemorrhagic stroke starting on the poststroke week 4-5. Clinico-neurologic, neurophysiological and cerebrohemodynamic findings evidence for the highest effectiveness of neurorehabilitation including complex magneto-laser therapy in hemispheric ischemic and hemorrhagic stroke of subcortical location in the absence of marked clinico-tomographic signs of dyscirculatory encephalopathy. Complex-combined magneto-laser therapy is more effective for correction of spastic dystonia. Mutual potentiation of magnetotherapy and laser therapy results in maximal development of collateral circulation and cerebral hemodynamic reserve (84% of the patients). Complex effects manifest in arteriodilating and venotonic effects. Complex magneto-laser therapy is accompanied by reduction of hyperthrombocythemia and hyperfibrinogenemia.

RESEARCH ARTICLE Small suitability of the DLEC1,MLH1 and ...

Indian Academy of Sciences (India)

Navya

However these finding were not confirmed in further studies, f. ex. on different populations. Besides there were no ... NSCLC was characterized using International System of Clinico-Morphological. Classification of ... Experimental protocols.

Clinical, laboratory and neuroimage findings in juvenile systemic lupus erythematosus presenting involvement of the nervous system Achados clínicos, laboratoriais e de imagem no lupus eritematoso sistêmico juvenil com comprometimento do sistema nervoso

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Mônica Jaques Spinosa

2007-06-01

Full Text Available OBJECTIVE: To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD: The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects. RESULTS: Forty-seven patients were included. Neuropsychiatric syndromes were found 29 (61.7%: seizures (17 / 36.2%, intractable headache (7 / 14.9%, mood disorders (5 / 10.6%, cerebrovascular disease (4 / 8.5%, acute confusional state (3 / 6.4%, aseptic meningitis (3 / 6.4%, psychosis (3 / 6.4%, chorea (3 / 6.4%, Guillain-Barré syndrome (2 / 4.3% and cranial neuropathy (1 / 2.1%. Morbidity indexes (SLEDAI and SLICC were higher among patients with neuropsychiatric manifestations (pOBJETIVO: Caracterizar o comprometimento neurológico no lupus eritematoso sistêmico juvenil. MÉTODO: Os prontuários dos pacientes com o diagnóstico de lupus eritematoso sistêmico antes dos 16 anos de idade, em acompanhamento na Unidade de Reumatologia do Hospital Pequeno Príncipe, de janeiro de 1992 a janeiro de 2006, foram revisados retrospectivamente enfatizando aspectos neuropsiquiátricos. RESULTADOS: Quarenta e sete pacientes foram incluídos. Síndromes neuropsiquiátricas foram encontradas em 29 (61,7%: crises convulsivas (17 / 36,2%, cefaléia intratável (7 / 14,9%, distúrbios do humor (5 / 10,6%, doença cerebrovascular (4 / 8,5%, estado confusional agudo (3 / 6,4%, meningite asséptica (3 / 6,4%, psicose (3 / 6,4%, coréia (3 / 6,4%, síndrome de Guillain-Barré (2 / 4,3% e neuropatia craniana (1 / 2,1%. Índices de morbidade (SEDAI e SLICC foram maiores em pacientes com manifestações neuropsiquiátricas (p<0,05. CONCLUSÃO: Síndromes neuropsiquiátricas são um achado freqüente que acrescenta morbidade significativa ao lupus eritematoso sistêmico juvenil.

Teaching Students with Autism Spectrum Disorders: Technology, Curriculum, and Common Sense

Science.gov (United States)

Ennis-Cole, Demetria

2012-01-01

Autism is a spectrum of disorders which comprises Asperger's Syndrome, Pervasive Developmental Delay-Not Otherwise Specified (PDD-NOS), Rett's Syndrome, Childhood Disintegrative Disorder, and Autistic Disorder. It affects 1 in 110 children (Center for Disease Control and Prevention, [CDC], 2011), and it is a complex neurological disorder that is…

Chikungunya: an overview

Indian Academy of Sciences (India)

PRAKASH KUMAR

The present review briefly ... review describes CHIK in general and highlights the various clinico-pathological aspects observed during the .... from diabetes, alcoholic hepatopathy and impaired ... Mavalankar et al (2008) carried out systematic.

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

Science.gov (United States)

Livide, Gabriella; Patriarchi, Tommaso; Amenduni, Mariangela; Amabile, Sonia; Yasui, Dag; Calcagno, Eleonora; Lo Rizzo, Caterina; De Falco, Giulia; Ulivieri, Cristina; Ariani, Francesca; Mari, Francesca; Mencarelli, Maria Antonietta; Hell, Johannes Wilhelm; Renieri, Alessandra; Meloni, Ilaria

2015-02-01

Rett syndrome is a monogenic disease due to de novo mutations in either MECP2 or CDKL5 genes. In spite of their involvement in the same disease, a functional interaction between the two genes has not been proven. MeCP2 is a transcriptional regulator; CDKL5 encodes for a kinase protein that might be involved in the regulation of gene expression. Therefore, we hypothesized that mutations affecting the two genes may lead to similar phenotypes by dysregulating the expression of common genes. To test this hypothesis we used induced pluripotent stem (iPS) cells derived from fibroblasts of one Rett patient with a MECP2 mutation (p.Arg306Cys) and two patients with mutations in CDKL5 (p.Gln347Ter and p.Thr288Ile). Expression profiling was performed in CDKL5-mutated cells and genes of interest were confirmed by real-time RT-PCR in both CDKL5- and MECP2-mutated cells. The only major change in gene expression common to MECP2- and CDKL5-mutated cells was for GRID1, encoding for glutamate D1 receptor (GluD1), a member of the δ-family of ionotropic glutamate receptors. GluD1 does not form AMPA or NMDA glutamate receptors. It acts like an adhesion molecule by linking the postsynaptic and presynaptic compartments, preferentially inducing the inhibitory presynaptic differentiation of cortical neurons. Our results demonstrate that GRID1 expression is downregulated in both MECP2- and CDKL5-mutated iPS cells and upregulated in neuronal precursors and mature neurons. These data provide novel insights into disease pathophysiology and identify possible new targets for therapeutic treatment of Rett syndrome.

Confiabilidade da análise qualitativa da ressonância magnética do encéfalo em prematuros extremos

Directory of Open Access Journals (Sweden)

Andre Dietz Furtado

2010-12-01

Full Text Available OBJETIVO: O objetivo deste estudo foi avaliar a confiabilidade da análise visual qualitativa dos achados de imagem de ressonância magnética (RM em recém-nascidos prematuros extremos. MATERIAIS E MÉTODOS: Uma coorte de 45 recém-nascidos de idade gestacional de 30 semanas ou menos foram inseridos neste estudo. Dois neurorradiologistas, cegos quanto aos dados clínicos, avaliaram de forma independente as RMs de crânio em relação aos seguintes achados: presença de hipersinal difuso e excessivo (DEHSI, dilatação dos ventrículos laterais, hemorragia intracraniana, áreas de sinal anormal em núcleos da base e córtex, áreas de aspecto cístico, deformidades ventriculares, dilatação do espaço subaracnóideo, leucoencefalomalácia precoce e anormalidades corticais. RESULTADOS: Quarenta e um pacientes (91,1% apresentaram exame de RM anormal. Os achados mais comuns foram DEHSI (75,6% e dilatação dos ventrículos (42,2%. A concordância interobservadores entre os dois experientes neurorradiologistas foi alta (κ > 0,60 para a maioria das alterações detectadas pela RM. O valor de kappa foi moderado (κ = 0,52 para alargamento do espaço subaracnoide e fraco (κ = 0,39 para DEHSI na substância branca. CONCLUSÃO: A avaliação qualitativa da maioria dos achados de imagem por RM de neonatos prematuros extremos foi considerada confiável, entretanto, a presença de DEHSI na substância branca demonstrou um grau de confiabilidade menor

Evolutional neurologic evaluation of seven year-old children born prematurely Avaliação neurológica evolutiva aos sete anos de idade de crianças nascidas prematuras

Directory of Open Access Journals (Sweden)

Lygia Ohiweiler

1996-09-01

Full Text Available A sample of 51 children aged 7 with a history of prematurity was compared to 44 age-matched children who were born at term at the HCPA. The premature children had had gestational ages up to 37 weeks and 6 days and were born weighing less than 2500g. The control group consisted of children born with gestational age between 38 and 42 weeks and weights above 2S00g. The evaluation criteria were clinical examination, neurological examination and the evolutional neurological evaluation (ENE. The results pointed out that impulsiveness, aggressiveness, disorganization and enuresis were prevalent symptoms of developmental disturbances in the sample of prematures. Alterations at neurological examination did not discriminate between the two groups, although cerebral palsy occurred only in the proup of prematures. The ENE functions which differentiated the two groups studied were dynamic balance, appendicular and trunk-limb coordination and motor persistence.Para estudar o desenvolvimento neuropsicomotor em amostra de prematuros aos 7 anos de idade, foram avaliadas 51 crianças prematuras e comparadas com 44 a termo. O grupo de prematuros tinha idade gestacional de até 37 semanas e 6 dias e peso de nascimento até 2500g. O grupo controle foi constituído de crianças com idade gestacional entre 38 e 42 semanas e acima de 2500g. Os instrumentos de avaliação utilizados foram os exames clinico, neurológico e neurológico evolutivo (ENE. Os resultados mostraram que impulsividade, agressividade, desorganização e enurese foram sintomas prevalentes nos prematuros. As alterações no exame neurológico não discriminaram os grupos, embora paralisia cerebral só tenha ocorrido nos prematuros. As funções do ENE que distinguiram os grupos foram equilíbrio dinâmico, coordenação tronco-membros e persistência motora, constituindo-se esta no comprometimento dominante nos prematuros e as alterações na coordenação tronco-membros em achado peculiar neste

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

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Gary W Beecham

2014-09-01

Full Text Available Alzheimer's disease (AD and related dementias are a major public health challenge and present a therapeutic imperative for which we need additional insight into molecular pathogenesis. We performed a genome-wide association study and analysis of known genetic risk loci for AD dementia using neuropathologic data from 4,914 brain autopsies. Neuropathologic data were used to define clinico-pathologic AD dementia or controls, assess core neuropathologic features of AD (neuritic plaques, NPs; neurofibrillary tangles, NFTs, and evaluate commonly co-morbid neuropathologic changes: cerebral amyloid angiopathy (CAA, Lewy body disease (LBD, hippocampal sclerosis of the elderly (HS, and vascular brain injury (VBI. Genome-wide significance was observed for clinico-pathologic AD dementia, NPs, NFTs, CAA, and LBD with a number of variants in and around the apolipoprotein E gene (APOE. GalNAc transferase 7 (GALNT7, ATP-Binding Cassette, Sub-Family G (WHITE, Member 1 (ABCG1, and an intergenic region on chromosome 9 were associated with NP score; and Potassium Large Conductance Calcium-Activated Channel, Subfamily M, Beta Member 2 (KCNMB2 was strongly associated with HS. Twelve of the 21 non-APOE genetic risk loci for clinically-defined AD dementia were confirmed in our clinico-pathologic sample: CR1, BIN1, CLU, MS4A6A, PICALM, ABCA7, CD33, PTK2B, SORL1, MEF2C, ZCWPW1, and CASS4 with 9 of these 12 loci showing larger odds ratio in the clinico-pathologic sample. Correlation of effect sizes for risk of AD dementia with effect size for NFTs or NPs showed positive correlation, while those for risk of VBI showed a moderate negative correlation. The other co-morbid neuropathologic features showed only nominal association with the known AD loci. Our results discovered new genetic associations with specific neuropathologic features and aligned known genetic risk for AD dementia with specific neuropathologic changes in the largest brain autopsy study of AD and related

Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons

NARCIS (Netherlands)

S. Yazdani (Saami); R. Deogracias (Rubén); J.A. Guy (Jacqueline); R.A. Poot (Raymond); A. Bird (Adrian); Y.A. Barde

2012-01-01

textabstractMutations in the gene encoding the methyl-CpG-binding protein MECP2 are the major cause of Rett syndrome, an autism spectrum disorder mainly affecting young females. MeCP2 is an abundant chromatin-associated protein, but how and when its absence begins to alter brain function is still

Skolens brugere er tilfredse - eller er de?

DEFF Research Database (Denmark)

Rasmussen, Palle

2009-01-01

Brugerundersøgelser bruges i stigende grad af kommunerne som redskab til at sikre kvaliteten på folkeskoleområdet. De kan rette sig mod at udvikle kvalitet, for eksempel gennem dialogorienterede undersøgelser; men de fleste af dem retter sig mod at kontrollere, hvor godt serviceydelserne lever op...

Phenotypes and genotypes in individuals with SMC1A variants

DEFF Research Database (Denmark)

Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert

2017-01-01

, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group...

Variação da ecogenicidade difusa em parênquima hepático homogêneo relacionada aos achados bioquímicos e hematológicos em cães

Directory of Open Access Journals (Sweden)

Fernanda P. Medeiros

2013-12-01

Full Text Available No presente estudo foi analisado o parênquima hepático com características homogêneas e ecogenicidade difusa reduzida (G1, aumentada (G2 e normal (G3, em relação ao perfil dos animais, dimensão do fígado e achado bioquímico e hematológico. Amostras de sangue obtidas por punção venosa da jugular ou da cefálica do antebraço foram encaminhadas para realização de hemograma e dosagem sérica de ALT, FA, proteínas totais, albumina, globulina, uréia e creatinina. Dos 30 cães que compuseram o G1, 30 (100% apresentaram evidenciação das paredes portais e da parede da vesícula biliar, 23 (76,67% fígado com dimensão preservada e bordos em ângulos agudos, 15 (50% faixa etária entre 1 e 6 anos de idade e 8 (26,67% eram da raça Lhasa apso. Não houve predisposição quanto ao sexo, assim como não foram identificadas alterações significativas nos exames bioquímicos e hematológicos dos cães do G1. Quanto aos diagnósticos clínicos atribuídos para estes cães, houve maior prevalência de gastroenterite (43,33%. Dos 30 cães do G2, 27 animais (90% apresentaram hepatomegalia e arredondamento dos bordos hepáticos, 18 (60% tinham idade superior a 9 anos, 16 (53,33% eram fêmeas e 9 (30% eram da raça poodle. Houve elevação da atividade sérica de FA e elevação de ALT, redução nos níveis de proteínas séricas totais, albumina, globulinas, eritrócitos e volume globular, além de leucocitose por neutrofilia, com desvio à esquerda, eosinopenia, linfopenia e monocitose nos cães do G2. Neste grupo houve prevalência de doenças metabólicas (54%, como diabetes mellitus e hiperadrenocorticismo, além das hepatopatias crônicas (17%, atribuídas ao uso contínuo e prolongado de corticóide e drogas anticonvulsivantes. Dos 30 cães do grupo controle (G3, 22 (73,33% apresentaram dimensões hepáticas inalteradas e bordos em ângulos agudos. Neste grupo de animais, não houve alterações significativas nos exames laboratoriais.

Pancytopenia: A clinico-hematological study

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Fahim Manzoor

2014-01-01

Full Text Available Background: A review of both Western and Indian literature shows that there are few comprehensive studies on pancytopenia. In India, the causes of pancytopenia are not well defined. This data, if available, would help in planning the diagnostic and therapeutic approach in patients with pancytopenia. Aim: To evaluate the cases of pancytopenia by peripheral smear and/or bone marrow aspiration and/or bone marrow biopsy to find out the etiology, clinical, hematological, and histomorphologic features of pancytopenia. Materials and Methods: Detailed hematological investigations a complete hemogram, peripheral smear examination, bone marrow aspiration, and biopsy examination were done. Results: The most common cause of pancytopenia in our study was megaloblastic anemia (56%, followed by hypoplastic/aplastic anemia (14%, hypersplenism (8% and post viral illness (6%. Conclusion: Megaloblastic anemia due to vitamin B12/folate deficiency seems to reflect the higher prevalence of pancytopenia in Indian subjects, putting hypoplastic/aplastic anemia in the second position, which is the leading cause for pancytopenia in the Western countries.

Motor neuron diseases in the University Hospital of Fortaleza (Northeastern Brazil: a clinico-demographic analysis of 87 cases Doenças do neurônio motor no Hospital Universitário de Fortaleza (Nordeste do Brasil: análise clínico-demográfica de 87 casos

Directory of Open Access Journals (Sweden)

CARLOS M. DE CASTRO-COSTA

2000-12-01

Full Text Available In this retrospective (1980-1998 study, we have analyzed clinico-demographically, from the records of the University Hospital of Fortaleza (Brazil, a group of 87 patients showing signs and symptoms of motor neuron diseases (MNDs. Their diagnosis was determined clinically and laboratorially. The WFN criteria were used for amyotrophic lateral sclerosis (ALS diagnosis. The clinico-demographic analysis of the 87 cases of MNDs showed that 4 were diagnosed as spinal muscular atrophy (SMA, 5 cases as ALS subsets: 2 as progressive bulbar paralysis (PBP, 2 as progressive muscular atrophy (PMA and 1 as monomelic amyotrophy (MA, and 78 cases of ALS. The latter comprised 51 males and 27 females, with a mean age of 42.02 years. They were sub-divided into 4 groups according to age: from 15 to 29 years (n= 17, 30 to 39 years (n= 18, 40 to 69 years (n= 39 and 70 to 78 years (n= 4. From the 78 ALS patients, 76 were of the classic sporadic form whilst only 2 were of the familial form. The analysis of the 87 patients with MNDs from the University Hospital of Fortaleza showed a predominance of ALS patients, with a high number of cases of juvenile and early onset adult sporadic ALS.Neste estudo retrospectivo (1980-1998, analisamos clínico-demograficamente, a partir dos prontuários do Hospital Universitário de Fortaleza (Brasil, um grupo de 87 pacientes que apresentavam sinais e sintomas de doenças do neurônio motor (DNMs. Eles foram diagnosticados clinicamente, e através de exames complementares. Para o diagnóstico da esclerose lateral amiotrófica (ELA, usamos os critérios da Federação Mundial de Neurologia. A análise clínico-demográfica dos 87 casos de DNMs evidenciou a existência de 4 casos de atrofia muscular espinhal (AME, 5 casos de variantes da ELA: 2 de paralisia bulbar progressiva (PBP, 2 de atrofia muscular progressiva (AMP e 1 de amiotrofia monomélica (AM, e 78 casos de ELA. Esses últimos eram constituídos de 51 homens e 27 mulheres, com

Sífilis congênita simulando a síndrome da criança espancada: relato de caso Congenital syphilis mimicking battered child syndrome: case report

OpenAIRE

Beatriz Regina Alvares; Maria Aparecida M.S. Mezzacappa; Cláudia Braga Poterio

2002-01-01

As autoras descrevem os achados radiológicos dos ossos longos de um recém-nascido com diagnóstico confirmado de sífilis congênita, enfatizando o diagnóstico diferencial com a síndrome da criança espancada. É apresentada a evolução radiológica das lesões nos ossos longos, do nascimento até o quarto mês de vida. Os dados clínicos e laboratoriais do recém-nascido, as radiografias anteriores e os achados radiológicos característicos da doença de base foram essenciais para o diagnóstico desta doen...

Edema agudo hemorrágico da infância: relato de três casos Acute hemorrhagic edema of infancy: report of three cases

OpenAIRE

Paulo Sergio Emerich; Patricia Almeida Prebianchi; Luciene Lage da Motta; Elton Almeida Lucas; Leonardo Mello Ferreira

2011-01-01

O Edema Agudo Hemorrágico da Infância é uma vasculite leucocitoclástica pouco frequente, que ocorre, quase exclusivamente, em crianças entre 4 meses e 2 anos de idade. Caracteriza-se, clinicamente, pela tríade febre, lesões purpúricas na face, pavilhões auriculares e extremidades e edema. Embora os achados cutâneos sejam dramáticos e de surgimento rápido, o prognóstico é favorável, com resolução espontânea dentro de 1 a 3 semanas. Descrevem-se três casos cujos achados clínicos e histopatológi...

Quais são os recentes achados clínicos sobre a associação entre depressão e suicídio? Which are the recent clinical findings regarding the association between depression and suicide?

Directory of Open Access Journals (Sweden)

Eduardo Chachamovich

2009-05-01

Full Text Available OBJETIVO: Suicídio é uma das maiores causas de mortalidade ao redor do mundo, especialmente entre indivíduos jovens. Suicídio é considerado o desfecho de um fenômeno complexo e multidimensional, e decorrente da interação de diversos fatores. A associação entre psicopatologia e suicídio tem sido largamente estudada. Dentre os diagnósticos psiquiátricos associados a suicídio, depressão maior se destaca sobremaneira. Tais achados parecem ser confirmados em diferentes desenhos metodológicos e em distintas populações. Este artigo visa a revisar sucintamente as contribuições recentes acerca das características clínicas da depressão que se encontram vinculadas a casos de suicídio. Destacam-se também os esforços de prevenção, no sentido de, ao se detectar e tratar casos de depressão em serviços gerais de saúde, diminuir o risco de suicídio. REVISÃO: Referências recentes foram identificadas e agrupadas com o intuito de ilustrar as principais contribuições acerca da interface entre depressão e suicídio. Brevemente, a revisão de literatura aberta aponta para a grande prevalência do diagnóstico de depressão maior entre os casos de comportamento suicida. Traços psicopatológicos de agressão e impulsividade parecem exercer um papel relevante no desencadeamento de atos suicidas. Estratégias de prevenção foram também revisadas nos contextos internacional e brasileiro. De modo geral, a detecção e tratamento de depressão são capazes de reduzir as taxas de suicídio. CONCLUSÃO: No campo da pesquisa sobre comportamento suicida, os estudos têm tido caráter pragmático e produziram um panorama de fatores claramente associados ao suicídio, sem, no entanto, oferecer uma amarração teórica consistente para os achados. A crescente adoção de modernas técnicas traz uma ampliação das possibilidades de investigação. Para serem clinicamente úteis, os novos conhecimentos devem possibilitar um olhar mais profundo

Radioisotope-pharmacodynamic studies without exposure to radiation

International Nuclear Information System (INIS)

Graul, H.

1983-01-01

On the basis of a clinico-pharmacological study using a new diuretic combination it is shown that not only the RIA determination, but also the measurement of the total amount of potassium in the body with the aid of the 40 K potassium-nuclide confirmed therapeutic efficacy. Furosemide (30 mg) and the combination furosemide-retard (30 mg) and triamterene (50 mg) influence the plasmarenin-aldosterone system (PRA-system) differently. After both furosemide alone and the combination, the plasma-renin activity increased significantly (p 40 /K potassium nuclide - decreased after 8 days of treatment with the combination of furosemide-retard and triamterene. Both methods have proved of value in the clinico-pharmacological examination of diuretics. They are of great importance, easy to apply, involve no exposure to radiation, and are inexpensive. (orig.) [de

Hematological toxicity of Zevalin1-{sup 90}Y used in mono-therapy or in consolidation among 39 patients suffering of B non Hodgkin lymphomas (B-N.H.L.); Toxicite hematologique du Zevalin1-90Y utilise en monotherapie ou en consolidation chez 39 patients atteints de LNH B

Energy Technology Data Exchange (ETDEWEB)

Boin, C.; Barre, E.; Gaillard, I.; Faure, P.; Moretti, J.L. [Hopital Saint-Louis, Service de pharmacie/medecine nucleaire, 75 - Paris (France); Sibon, D.; Brice, P.; Thieblemont, C. [Hopital Saint-Louis, Service d' hemato-oncologie, 75 - Paris (France); Bonnot-Lours, S.; Meignan, M. [Hopital Henri-Mondor, service de pharmacie/medecine nucleaire, 94 - Creteil (France)

2010-07-01

Purpose: an important heterogeneity of hematological toxicity of Zevalin -{sup 90}Y was observed in patients treated in mono-therapy or consolidation. In a context of ambulatory follow-up, it seems interesting to look for predicting this toxicity according to the clinico biological characteristics of patients. This would allow to select and follow in an optimum way the candidates to this treatment. A bi-centric retrospective study was lead for which objective was to enlighten the factors associated to this toxicity. Conclusions: a comprehensive study of clinico biological history and compliance with warnings of product characteristics summary will allow to select at the best the candidates to radioimmunotherapy by Zevalin-{sup 90}Y. this treatment represents an interesting option in some patients (particularly aged patients), stays efficient and well tolerated. (N.C.)

[The importance of the internal picture of the disease for the rehabilitative prognosis in paranoid schizophrenia].

Science.gov (United States)

Pkhidenko, S V

1993-07-01

Clinico-catamnestic analysis of internal picture of disease was carried out in 237 patients with paranoid schizophrenia. High ratio of anosognosia (52%) was found. As many as 11% of patients aimed at overcoming morbid symptoms.

Detecção sorológica de anti-HPV 16 e 18 e sua associação com os achados do papanicolaou em adolescentes e mulheres jovens Serological detection of anti HPV 16/18 and its association with pap smear in adolescents and young women

Directory of Open Access Journals (Sweden)

Cristina Helena Rama

2006-02-01

Full Text Available OBJETIVO: Verificar a taxa de anticorpos neutralizantes anti-HPV 16 e/ou 18, e a sua associação com os achados da citologia oncológica do colo uterino em adolescentes e mulheres jovens. MÉTODOS: Foram incluídas, neste estudo transversal, 541 mulheres de 15 a 25 anos de idade, saudáveis, sexualmente ativas, que apresentaram exame ginecológico normal, no período de setembro a novembro de 2000. Foi obtida uma amostra cervical para citologia em meio líquido e uma amostra de sangue para identificação dos anticorpos anti-HPV 16 e/ou 18, por meio do método ELISA. As amostras foram encaminhadas para um laboratório de referência na Bélgica. Para análise estatística, foram estimadas a prevalência e a razão de prevalência (RP, com intervalo de confiança de 95%. RESULTADOS: Entre as mulheres incluídas, 150 (27,7% apresentaram resultados positivos da sorologia sendo: 79 (14,6% por anticorpos anti-HPV 16, 35 (6,4% anti-HPV 18 e 36 (6,6% anti-HPV 16 e 18. Foram detectadas anormalidades citológicas em 107 casos (20,5%, sendo 63 classificadas como atipias celulares de significado indeteminado (ASCUS, 41 casos sugestivos de lesões de baixo (LSIL e três casos sugestivos de lesões de alto grau (HSIL. A prevalência de citologias anormais quando a sorologia foi positiva foi apenas 1,75 vez a prevalência de citologias positivas observadas com sorologia negativa. Nesta amostra não houve evidência de associação entre os resultados anormais da citologia e a positividade da sorologia. CONCLUSÃO: O resultado deste estudo indica uma alta prevalência de sorologia positiva para o HPV 16 e 18 em mulheres jovens sadias sem relação com os achados anormais da colpocitologia.OBJECTIVE: Verify the relation between HPV 16/18 antibodies and the association with cervical cytology findings in adolescents and young women. METHODS: A cross sectional study with 541 healthy and sexually active women from 15 to 25 years of age was carried on from

Estudio clinico micologico de onimicosis en ancianos Clinico-mycological study of onychomycosis in elderly patients

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Mayda Elena Rodriguez-Soto

1993-06-01

Full Text Available Se realizó examen físico de las uñas a 210 ancianos y a aquellos que presentaron lesiones sugestivas de onicomicosis se les realizó toma de muestra con el objetivo de conocer los principales agentes causales, las características e incidencia de las lesiones. Se confirmó el diagnóstico mediante el aislamiento del agente causal en 74 de los casos procedentes principalmente de las uñas de los pies, para una incidencia de 35,2. La tinea pedis se presentó en el 25,7% de los casos, mientras que la enfermedad asociada más frecuente fue la Diabetes mellitus; entre las características clínicas de las uñas predominaron el engrosamiento, la pérdida del brillo y la aparición de estrías longitudinales. Existió una correspondencia significativa entre el examen microscópico directo y el cultivo. La especie de dermatofito predominate fue Trichophyton rubrum, mientras que Candida parapsilosis fue la más aislada entre las especies de Candida.Physical examination of nails was carried out in 210 elderly patients and nail scrapings were obtained from onychomycosis suggested lesions in order to determine their causative agents, incidence and clinical characteristics. Diagnostic was confirmed by the isolation of the agents from 74 patients, mainly from toe-nails (incidence 35,2. Tinea pedis occurred in 25% of the cases and Diabetes mellitus was the most prevalent associated disease and the most frequent clinical characteristics were the thickening, the opacity and the presence of longitudinal strias in the surface of the nails. It was compared the results obtained by microscopic examination and by culture. Trichophyton ru-brum was the most common dermatophyte isolated; Candida parapsilosis was dominant among Candida species.

International Terrorism: A Chronology, 1968-1974

Science.gov (United States)

1975-03-01

Tabacos , Argentina’s largest ciga- rette company and a subsidiary of British-Ameri- can Tobacco Co., was kidnapped outside of his home in Buenos Aires...presumably as part of the IRA’s worldwide letter-bomb cam- paign. 445. September 23 Argentina. David George Heywood of Nobleza Tabacos , a subsidiary of

The Impact of Having a Sibling with an Intellectual Disability: Parental Perspectives in Two Disorders

Science.gov (United States)

Mulroy, S.; Robertson, L.; Aiberti, K.; Leonard, H.; Bower, C.

2008-01-01

Background: The potential effects on other children when there is a child with intellectual disability (ID) in the family are being increasingly recognized. This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents. Methods: The parents of 186 Western Australian children with…

Enseñanza y aprendizaje de la competencia conversacional en español

DEFF Research Database (Denmark)

Ambjørn, Lone

2008-01-01

Formålet med denne artikel er at belyse de grundlæggende problemstillinger, der er forbundet med at udvikle intersprogsbrugerens evne til at føre en uformel og naturlig samtale og på samme tid anvende den sprogbrug, der er karakteristisk for talt diskurs. Der rettes en kritik mod de traditionelle...

Diagnose eller typeeksemplar? - Botaniske artsnavne mellem essentialisme og empiri

DEFF Research Database (Denmark)

Friis, Ib

2008-01-01

Plantenavne har siden 1753 været betegnet med toledede videnskabelige navne, Linnés nomina trivialia. Men for Linné var diagnoserne de rette artsnavne der angiver artens essens. Konserveret materiale var blot eksempler på artens fremtrædelsesform. Men siden 1930 er de toledede plantenavne formelt...

Audit of advanced gastric cancer at Ibn Sina Hospital, Khartoum ...

African Journals Online (AJOL)

Sudan Journal of Medical Sciences ... Background: Worldwide, gastric cancer is the second most common cancer (second to lung cancer). ... and age influences the clinico-pathological features of gastric cancer and to audit the outcome of ...

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

Science.gov (United States)

Garcelon, Nicolas; Neuraz, Antoine; Benoit, Vincent; Salomon, Rémi; Kracker, Sven; Suarez, Felipe; Bahi-Buisson, Nadia; Hadj-Rabia, Smail; Fischer, Alain; Munnich, Arnold; Burgun, Anita

2017-09-01

In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records. We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients. Our model was based on a vector space model (VSM) to compute the similarity distance between an index patient and all the patients of the data warehouse. The dimensions of the VSM were built upon Unified Medical Language System concepts extracted from clinical narratives stored in the clinical data warehouse. The VSM was enhanced using three parameters: a pertinence score (TF-IDF of the concepts), the polarity of the concept (negated/not negated) and the minimum number of concepts in common. We evaluated this model by displaying the most similar patients for five different rare diseases: Lowe Syndrome (LOWE), Dystrophic Epidermolysis Bullosa (DEB), Activated PI3K delta Syndrome (APDS), Rett Syndrome (RETT) and Dowling Meara (EBS-DM), from the clinical data warehouse representing 18, 103, 21, 84 and 7 patients respectively. The percentages of index patients returning at least one true positive similar patient in the Top30 similar patients were 94% for LOWE, 97% for DEB, 86% for APDS, 71% for EBS-DM and 99% for RETT. The mean number of patients with the exact same genetic diseases among the 30 returned patients was 51%. This tool offers new perspectives in a translational context to identify patients for genetic research. Moreover, when new molecular bases are discovered, our strategy will help to identify additional eligible patients for genetic screening. Copyright © 2017. Published by Elsevier Inc.

Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation

NARCIS (Netherlands)

Hagebeuk, Eveline E. O.; Marcelis, Carlo L.; Alders, Mariëlle; Kaspers, Ageeth; de Weerd, Al W.

2015-01-01

This is the second report of a family with a recurrence of a CDKL5 mutation (c. 283-3_290del) in 2 sisters. Both parents tested negative for the mutation in all tissues, but germline mosaicism is likely. Clinically CDKL5 patients resemble those with Rett syndrome, caused by a MECP2 mutation, who

Network models predict that reduced excitatory fluctuations can give rise to hippocampal network hyper-excitability in MeCP2-null mice.

Directory of Open Access Journals (Sweden)

Ernest C Y Ho

Full Text Available Rett syndrome is a severe pediatric neurological disorder caused by loss of function mutations within the gene encoding methyl CpG-binding protein 2 (MeCP2. Although MeCP2 is expressed near ubiquitously, the primary pathophysiology of Rett syndrome stems from impairments of nervous system function. One alteration within different regions of the MeCP2-deficient brain is the presence of hyper-excitable network responses. In the hippocampus, such responses exist despite there being an overall decrease in spontaneous excitatory drive within the network. In this study, we generated and used mathematical, neuronal network models to resolve this apparent paradox. We did this by taking advantage of previous mathematical modelling insights that indicated that decreased excitatory fluctuations, but not mean excitatory drive, more critically explain observed changes in hippocampal network oscillations from MeCP2-null mouse slices. Importantly, reduced excitatory fluctuations could also bring about hyper-excitable responses in our network models. Therefore, these results indicate that diminished excitatory fluctuations may be responsible for the hyper-excitable state of MeCP2-deficient hippocampal circuitry.

Clinical profile and outcome of children with scrub typhus from Chennai, South India.

Science.gov (United States)

Ganesh, Ramaswamy; Suresh, Natarajan; Pratyusha, L L; Janakiraman, Lalitha; Manickam, Mani; Andal, A

2018-06-01

Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. We prospectively studied the clinico-laboratory profile and outcome of 358 children aged 1 day to 18 years diagnosed with scrub typhus from Chennai, South India. All children (100%) had fever. Eschar was seen in 67%. All children were treated with oral doxycycline and those with complications were treated with intravenous chloramphenicol/azithromycin. Rapid defervescence (within 48 h) after initiation of doxycline was seen in 306 (85%) and 52 (14.5%) developed complications. Multivariate logistic regression analysis revealed that children who had an elevated aspartate amino transferase (> 120 IU/L) and the presence of thrombocytopenia (platelet count less than 1 lac cells/mm 3 ) at admission had high risk of developing complications. The overall mortality rate in this series was 0.8%. Our 4-year study highlights the clinico-laboratory profile of Scrub typhus in children from Chennai, South India. Early recognition and prompt treatment reduces the complication and mortality. What is Known: • Scrub typhus is endemic to tsutsugamushi triangle, a geographical triangle extending from northern Japan in the east to Pakistan and Afghanistan in the west and northern Australia in the south. • There is paucity of data regarding its clinico-laboratory profile in neonates as well as its predictors of outcome. What is New: • Children who had an elevated AST and the presence of thrombocytopenia at admission had high risk of developing complications.

Comparison of conventional and 3-dimensional computed tomography against histopathologic examination in determining pancreatic adenocarcinoma tumor size: Implications for radiation therapy planning

International Nuclear Information System (INIS)

Qiu Haoming; Wild, Aaron T.; Wang Hao; Fishman, Elliot K.; Hruban, Ralph H.; Laheru, Daniel A.; Kumar, Rachit; Hacker-Prietz, Amy; Tuli, Richard; Tryggestad, Erik; Schulick, Richard D.; Cameron, John L.; Edil, Barish H.; Pawlik, Timothy M.; Wolfgang, Christopher L.; Herman, Joseph M.

2012-01-01

Background and purpose: This study seeks to: (a) quantify radiologic-pathologic discrepancy for pancreatic adenocarcinoma by comparing tumor size on conventional computed tomography (C-CT) and 3-dimensional CT (3D-CT) to corresponding pathologic specimens; and (b) to identify clinico-pathologic characteristics predictive of radiologic-pathologic discrepancy to assist radiotherapy planning. Materials and methods: Sixty-three patients with pancreatic adenocarcinoma and preoperative C-CT and volume-rendered 3D-CT imaging within 6 weeks of resection were identified. Maximum tumor diameter (MTD) was measured on pathology, C-CT, and 3D-CT and compared for each patient as well as among different clinico-pathologic subgroups. Results: There was a trend toward C-CT underestimation of MTD compared to final pathology (p = 0.08), but no significant difference between 3D-CT MTD and pathology (p = 0.54). Pathologic tumor size was significantly underestimated by C-CT in patients with larger pathologic tumor size (>3.0 cm, p = 0.0001), smaller tumor size on C-CT ( 90 U/mL, p = 0.008), and location in the pancreatic head (p = 0.015). A model for predicting pathologic MTD using C-CT MTD and CA19-9 level was generated. Conclusions: 3D-CT may allow for more accurate contouring of pancreatic tumors than C-CT. Patients with the above clinico-pathologic characteristics may require expanded margins relative to tumor size estimates on C-CT during radiotherapy planning.

Browse Title Index

African Journals Online (AJOL)

Items 151 - 200 of 229 ... Vol 8 (2011), Prevalence of HIV/AIDS among Breast Cancer Patients and the ... Vol 11, No 2 (2014), Receptor Status and Associated Clinico- ... Vol 7 (2011), Spontaneous Intra-Peritoneal Urinary Bladder Rupture ...

Associação à positividade da Lawsonia intracellularis com a expressão clínico-patológica da infecção em suínos da região metropolitana de Bucaramanga (Santander, Colômbia

Directory of Open Access Journals (Sweden)

A.P. Jiménez

Full Text Available RESUMO Porções de íleo terminal foram coletados de 100 suínos com sinais de doença gastrointestinal na área metropolitana de Bucaramanga, a fim de se estudar a eficiência do diagnóstico de enteropatia proliferativa suína (PPE pela técnica de PCR aninha (PCRa empregando sequências específicas (primers para L. intracellularis: 16S ARN região (270pb e sua correlação com achados clínicos e patológicos. Todas as amostras foram processadas para se determinar a associação entre positividade por PCR, os sinais clínicos, os achados de necropsia e as lesões histológicas. Cinquenta e seis por cento das amostras foram positivas para L. intracellularis pela PCRa. Só 2% exibiram resultados positivos pela técnica Warthin-Starry. Trinta e um de 100 animais com sinais de anorexia resultaram positivos para PCRa (P>0,05. Não houve associação (P<0,05 entre diarreia e queda no crescimento, bem como associação (P<0,05 entre achados anatomopatológicos e histológicos com PCRa positivas.

Contemplation at Last Sight

DEFF Research Database (Denmark)

Reeh, Henrik

2015-01-01

Pr. 1. juli 2015 gik de såkaldte klippekort ud af brug efter i mere end fyrre år at have formidlet mellem individ, offentlig transport og byrum i København og hele hovedstadsregionen. Undersøgelsen rettes især mod de automater, som har stået for afstemplingen af klippekortene. Disse automater - a...

Tosprogede har en trumf i ærmet

DEFF Research Database (Denmark)

Henriksen, Carsten

2010-01-01

Solstrålehistorier om afghanske superstudenter ændrer ikke ved det faktum, at tosprogede børns faglige niveau halter bagefter deres danske klassekammeraters. Vi har brug for at skrue op for den pædagogiske målrettethed og ned for skrækken for andre sprog, hvis vi skal rette op på skævheden, mener...

Key Clinical Features to Identify Girls with "CDKL5" Mutations

Science.gov (United States)

Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

2008-01-01

Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…

6 principper for opfindsomhed

DEFF Research Database (Denmark)

Tanggaard, Lene

2014-01-01

Alle er opfindsomme under de rette rammer. Det kræver, at lederen anviser retning og styring af opfindsomheden, så det ikke bliver ufokuseret og meningsløst. Læs om de seks principper for opfindsomhed, og få inspiration til, hvordan du som leder kan blive bedre til at få dine medarbejders opfinds...

Psykologi i Østen

DEFF Research Database (Denmark)

Singla, Rashmi; Khanna, Enlisa

2012-01-01

Det var bevægende at læse Line Kvist Carls beretning om sine faglige erfaringer med psykologisk arbejde i det sydlige Indien (”Kvinderne i Tamil Nadu”, Psykolog Nyt 1/2012). Vi vil gerne rette hendes og andre psykologers opmærksomhed på den udvikling, der foregår på det psykologfaglige felt med...

Implementering af accountability - en udfordring for den pædagogiske profession

DEFF Research Database (Denmark)

Mørk, Brian

2014-01-01

dagtilbudområdet på. En styring, der kan identificeres som en accountability-politik, hvor det pædagogiske personale ansvarliggøres og stilles til regnskab for deres præstationer i arbejdet med udsatte børn. Fokus rettes blandt andet på de vanskeligheder og konsekvenser, der opstår hos ”gulvpædagoger” i...

Subject Index

Indian Academy of Sciences (India)

R. Narasimhan (Krishtel eMaging) 1461 1996 Oct 15 13:05:22

Cygnus X-3. X-ray Spectroscopy of Cygnus X-3 (M. Choudhury & A. R. Rao), 39. Eta carinae. High Energy Phenomena in Eta Carinae (R. F. Viotti, L. A. Antonelli, S. Rebecchi &. C. Rossi), 19. Galaxy, active. The Multiwavelength Study of Two Unique Radio Galaxies (N. A. B. Gizani, M. A. Gar- rett & J. P. Leahy), 89. 261 ...

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB Auditory findings and electrophysiologics in individuals with G/BBB syndrome

Directory of Open Access Journals (Sweden)

Tatiana Vialôgo Cassab

2011-12-01

Full Text Available A síndrome G/BBB é uma condição rara, caracterizada por hipertelorismo, fissura de lábio e palato e hipospádia. Não foram encontrados trabalhos sobre a audição em indivíduos com esta síndrome. OBJETIVO: Investigar a função auditiva em pacientes com síndrome G/BBB quanto à ocorrência ou não de perda auditiva e a condução nervosa auditiva periférica e central. MATERIAL E MÉTODO: Catorze pacientes de 7 a 34 anos, do gênero masculino, com a síndrome G/BBB, foram avaliados por meio de otoscopia, audiometria, timpanometria e potenciais evocados auditivos de tronco encefálico (PEATE. Forma de Estudo: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 12 (66,7% pacientes da amostra e alterados em dois (33,3%, sendo um com perda condutiva e um neurossensorial. Quanto ao PEATE, foram encontrados: latências absolutas da onda I normais em todos os pacientes, aumento das latências absolutas da onda III e V em dois e seis pacientes respectivamente; latências interpicos I-III, III-V e I-V aumentadas em quatro, três e oito pacientes, respectivamente. CONCLUSÃO: Perdas auditivas periféricas podem ocorrer na síndrome G/BBB. Há evidências de comprometimento das vias auditivas centrais em nível do tronco encefálico. Estudos com exames de imagem são necessários para maior clareza dos achados clínicos.The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. AIM: To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory nerve conduction. METHODS: Fourteen male patients aged 7-34 years with the G/BBB syndrome were assessed by otoscopy, audiometry, tympanometry and evoked auditory brainstem response (ABR. Model: A retrospective clinical series study. RESULTS: Audiometric thresholds were

Colon cancer: it's CIN or CIMP.

Science.gov (United States)

Issa, Jean-Pierre

2008-10-01

Combined genetic and epigenetic analysis of sporadic colon cancer suggest that it can no longer be viewed as a single disease. There are at least three different subsets with distinct clinico-pathologic features, with important implications for preventions, screening, and therapy.

Screenings of lung cancer with low dose spiral CT: results of a three year pilot study and design of the randomised controlled trial Italung-CT; Screening della neoplasia polmonare con TC spirale a bassa dose: risultati di uno studio pilota triennale e disegno dello studio clinico randomizzato Italung-CT

Energy Technology Data Exchange (ETDEWEB)

Picozzi, Giulia [Firenze Univ., Firenze (Italy). Radiodiagnostica I-Dipartimento di Fisiopatologia Clinica; Paci, Enrico [Azienda Ospedaliera Universitaria di Careggi, Firenze (Italy). Unita' di Epidemiologia Clinica e Descrittiva Centro per lo Studio e la Prevenzione Oncologica; Lopes Pegna, Andrea [Azienda Ospedaliera Universitaria di Careggi, Firenze (Italy). U.O. Pneumologia] [and others

2005-02-01

Purpose: To report the results of a three-year observational pilot study of lung cancer screening with low dose computed tomography (CT) and to present the study design of a randomised clinical trial named as Italung CT. Materials and methods: Sixty (47 males and 13 females, mean age 64{+-}4.5 years) heavy smokers (at least 20 packs-year) underwent three low-dose spiral CT screening tests one year apart on a single slice or multislice CT scanner. Indeterminate nodules were managed according to the recommendations of the Early Lung Cancer Action Project. Results: Indeterminate nodules were observed in 33 (55%) of the subjects (60% at the baseline screening test, 24% at the first annual test and 16% at the second annual test). The size of the largest indeterminate nodule was <5mm in diameter in 20 subjects. 10 of whom showed the nodule at the baseline test. Forty-five subjects (75%) completed the first annual test and 42 (70%) the second annual test. One (1.6%) prevalent lung cancer (adenosquamous carcinoma) and one (2.2%) incident lung cancer (small cell cancer at the first annual examination) were observed, as well as pulmonary localisation of Hodgkin's lymphoma (at the second annual test). In addition, one subject underwent lung surgery for a chondromatous hamartoma. Conclusions: The results of the pilot study are substantially in line with those of other observational studies of greater sample size. This justifies optimism about the reliability of the results in the screened arm of the Italung Ct trial which hast just began. [Italian] Scopo: Riportare i risultati di uno studio pilota osservazionale di screening della neoplasia polmonare con TC a bassa dose della durata di tre anni e presentare il disegno dello studio clinico randomizzato Italung-CT. Materiale e metodi: Sessanta (47 uomini e 13 donne, eta' media 64{+-}4,5 anni) forti fumatori (almeno 20 pacchetti/anno) sono stati sottoposti ad un esame basale e a due controlli annuali con TC single o

Veia cava superior esquerda anômala com ausência de veia cava superior direita: achados de imagem Persistent left superior vena cava with absent right superior vena cava: image findings

Directory of Open Access Journals (Sweden)

Cyrillo Rodrigues de Araújo Júnior

2003-10-01

Full Text Available A persistência da veia cava superior esquerda com ausência da veia cava superior direita é uma anomalia rara, com menos de 150 casos descritos na literatura. A não-obliteração e regressão da veia cardinal anterior esquerda durante o desenvolvimento embriológico promove uma variação sistêmica de retorno venoso ao coração, com persistência da veia cava superior esquerda. Sua incidência varia de 0,3% em pacientes sem alterações cardíacas congênitas concomitantes a 4,3% naqueles com cardiopatias. Na maioria das vezes coexiste a veia cava superior direita, porém se houver regressão e degeneração da veia cardinal anterior direita, implicará a sua ausência e a drenagem venosa para o coração será feita pela veia cava superior esquerda ao átrio direito, através do seio coronariano. Mostramos um caso de um paciente submetido a radiografia de tórax e tomografia computadorizada para avaliação de doença pulmonar obstrutiva crônica, tendo como achado a persistência da veia cava superior esquerda com ausência da direita, sem qualquer cardiopatia associada e com a drenagem cardíaca sendo feita, através do seio coronariano, para o átrio direito.Persistent left superior vena cava with absent right superior vena cava is a rare anomaly, with less than 150 cases reported in the literature. Congenitally persistent left superior vena cava is the most common variant of systemic venous return to the heart, resulting embryologically from failure of the left anterior cardinal vein to become obliterated. Its incidence varies from 0.3% in patients with otherwise normal heart to 4.3% in patients with congenital heart disease. In the majority of the patients, a right superior vena cava is present as well, but rarely the right anterior cardinal vein degenerates resulting in the absence of the normal right superior vena cava. The blood from the right side is carried by the persistent left superior vena cava to the right atrium through the

ABO Blood Group and Endometrial Carcinoma: A Preliminary Single-Center Experience from Saudi Arabia.

Science.gov (United States)

Abu-Zaid, Ahmed; Alsabban, Mohannad; Abuzaid, Mohammed; Alomar, Osama; Al-Badawi, Ismail A; Salem, Hany

2017-12-18

Inherited ABO blood groups have been shown to play possible contributions in the pathogenesis of various gynecologic and non-gynecologic carcinomas. With regard to gynecologic carcinomas, there is a confined number of studies that explored the relationship between ABO blood group and endometrial carcinoma (EC) in the PubMed-indexed literature. To the best of our knowledge, no such study has ever been conducted in Saudi Arabia. Our study has two objectives: (I) to determine the prevalence of ABO blood groups among Saudi patients with EC, and (II) to explore the relationship between ABO blood group and several clinico-pathological prognostic parameters (namely: menopausal status [age], body mass index [BMI], tumor grade, FIGO [Fédération Internationale de Gynécologie et d'Obstétrique] stage and recurrence) in Saudi patients with EC. A retrospective cross-sectional study from 01-January-2010 to 31-July-2014 was conducted at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia - a referral tertiary healthcare institute. One-hundred and fourteen patients (n=114) were included in the study. Clinico-pathological data were extrapolated from medical records, and their association with ABO blood groups were evaluated. Categorical data were presented as number of cases (n) and percentages (%). Two-tailed Chi-square test was used for univariate analysis. For all purposes, p values 28 kg/m 2 (84.2%), diagnosed with early FIGO stage I-II (76.3%) and developed no recurrence (86.8%). The frequencies of ABO blood group types A, B, AB, and O were 28.1%, 12.3%, 3.5% and 56.1%, respectively. When ABO blood groups were analyzed as four different types (A, B, AB and O), O-type was the most common ABO blood group in pre- and post-menopausal EC patients (43.8% and 58.2%, respectively; p=0.14). There were no statistically significant correlations between ABO blood groups and all the examined clinico-pathological factors. Moreover, when ABO blood groups were

African Journal of Clinical and Experimental Microbiology - Vol 6, No ...

African Journals Online (AJOL)

Antistaphylococcal metabolite from Aureobasidium pullulans: production and characterization · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT ... Opportunistic infections and clinico-epidemiological factors in HIV/AIDS casesseen in a tertiary care hospital in Nepal · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT

Alcoholism and diabetes mellitus: Case report | Otieno | East African ...

African Journals Online (AJOL)

He was an alcoholic receiving psychiatric care for alcoholism. They both presented separately at different hospitals with decompensated diabetes following heavy alcohol consumption. The history and clinico-laboratory picture of both patients are presented and brief management programme and outcome are also given.

Prognostic factors in patients hospitalised with diabetic ketoacidosis ...

African Journals Online (AJOL)

Objective: To determine the clinico-laboratory predictors of outcomes of patients hospitalised with diabetic ketoacidosis who were undergoing treatment. Design: Cross-sectional descriptive study. Setting: The accident and emergency department and medical wards of the Kenyatta National Hospital. Subjects: Fifty one ...

Internationale perspektiver på seksualundervisning

DEFF Research Database (Denmark)

Roien, Line Anne; Simovska, Venka

2018-01-01

I Danmark er vi i ikke så vant til at forholde os til internationale erfaringer for seksualundervisning. Men ud fra tanken om, at man kan lære meget om sit eget uddannelsessystem ved at spejle sig i andres, vil vi i dette kapitel rette blikket ud over Danmarks grænser og redegøre for nogle af de...

Testing Brain Overgrowth and Synaptic Models of Autism Using NPCs and Neurons From Patient Derived iPS Cells

Science.gov (United States)

2015-12-01

are complex neurodevelopmental diseases that affect about 1% of children in the United States. Such disorders are characterized by deficits in...neurodevelopmental diseases that affect about 1% of children in the United States. Such disorders are characterized by deficits in verbal communication...have been generated for several neurological disorders and diseases, including Rett syndrome, a syndromic ASD (Marchetto et al. 2010). The objective

BUILD UP Skills Danmark

DEFF Research Database (Denmark)

Forsingdal, Charlotte Vartou; Lauridsen, Vagn Holk; Hougaard, Karsten Frøhlich

opfyldelsen af 2020-målene, skal de rette kompetencer inden for energief-fektivitet og brug af vedvarende energi være til stede blandt de udførende i bygge- og an-lægsbranchen. Det er på denne baggrund, at Europa-Kommissionen har igangsat Build Up Skills projektet på tværs af Europa. Formålet med denne...

Bisphosphonate-Related Osteonecrosis of the Jaw Bone: Radiological Pattern and the Potential Role of CBCT in Early Diagnosis

Directory of Open Access Journals (Sweden)

James Olutayo

2010-04-01

Full Text Available Objectives: To systematize the clinico-radiological symptoms and course of bisphosphonate-related osteonecrosis of jaw bone and to evaluate the diagnostic potential of various radiological techniques to detect mild osteonecrosis in each stage of the disease.Material and Methods: The sample consisted of 22 patients previously diagnosed with extraoral malignant disease. Diagnosis was based on a clinical examination in conjunction to digital panoramic radiography and cone beam computed tomography (CBCT. Two dentomaxillofacial radiologists reviewed all images.Results: Twenty patients showed mandibular involvement clinically, while two others had a maxillary involvement. Four stages of the disease were proposed based on the clinico-radiological findings. Subclinical cortical and lamina dura thickening was detected with only three-dimensional CBCT and periapical images, while ulceration and cortical bone thickening was detected only by three-dimensional CBCT. Mixed sclerotic, lytic bone destruction involving alveolar and basal bone with or without encroachment on the mandibular canal, pathological mandibular fractures were detected by two-dimensional panoramic and three-dimensional CBCT images. Other findings are non healing extraction sockets, periapical radiolucencies, osteolysis, sequestra, oroantral fistula, and periosteal new bone formation.Conclusions: The present study showed that bisphosphonate-related osteonecrosis of jaw bone occurs in four distinct clinico-radiological stages. For mild cases, panoramic image diagnosis was much less obvious, whereas cone beam computed tomography was able to fully characterise the bony lesions and describe their extent and involvement of neighbouring structures in all cases. Thus cone beam computed tomography might better contribute to the prevention of bisphosphonate-related osteonecrosis of jaw bone as well to the disease management.

Phosphoprotein enriched in diabetes (PED/PEA15) promotes migration in hepatocellular carcinoma and confers resistance to sorafenib

DEFF Research Database (Denmark)

Quintavalle, Cristina; Hindupur, Sravanth Kumar; Quagliata, Luca

2017-01-01

and protein levels of PED were significantly high in HCC compared with non-tumoral tissue. Clinico-pathological correlation revealed that PED(high) HCCs showed an enrichment of gene signatures associated with metastasis and poor prognosis. Further, we observed that PED overexpression elevated the migration...

Author Details

African Journals Online (AJOL)

The prevalence and clinico-haematological changes of protozoan diseases in food animals in Alabata, Abeokuta Abstract · Vol 36, No 2 (2015) - Articles Canine trypanosomosis: Clinical observations and morphological pathology associated with natural infection of Trypanosoma congolense in exotic breeds of dog in ...

A Delphic consensus assessment

DEFF Research Database (Denmark)

Oberg, Kjell; Krenning, Eric; Sundin, Anders

2016-01-01

remains suboptimal as a metric. A critical unmet need is the development of a clinico-biological tool to provide enhanced information regarding precise disease status and treatment response. The group considered that circulating RNA was better than current general NEN biomarkers and preliminary clinical...

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

NARCIS (Netherlands)

Parchi, P.; Strammiello, R.; Notari, S.; Giese, A.; Langeveld, J.P.M.; Ladogana, A.; Zerr, I.; Roncaroli, F.; Cras, P.; Ghetti, B.; Pocchiari, M.; Kretzschmar, H.; Capellari, S.

2009-01-01

Six subtypes of sporadic Creutzfeldt-Jakob disease with distinctive clinico-pathological features have been identified largely based on two types of the abnormal prion protein, PrPSc, and the methionine (M)/valine (V) polymorphic codon 129 of the prion protein. The existence of affected subjects

Hydroxyurea therapy in adult Nigerian sickle cell disease: a ...

African Journals Online (AJOL)

Background: The clinical prospects of hydroxyurea therapy in the management of sickle cell disease (SCD) require evaluation in the Nigerian setting to develop indigenous guidelines. This survey examines the pattern of hydroxyurea therapy, its clinico-haematologic benefits and safety profile in Nigerian SCD subjects.

Tomografia computadorizada no diagnóstico da otosclerose fenestral

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Vicente Andy de Oliveira

2004-01-01

Full Text Available OBJETIVO: Identificar os principais achados tomográficos da otosclerose fenestral e avaliar a utilidade da tomografia computadorizada de alta resolução (TCAR, como método diagnóstico dessa osteodistrofia. FORMA DE ESTUDO: Estudo prospectivo multicêntrico com tomografia computadorizada (TC de ossos temporais. MATERIAL E MÉTODO: 54 pacientes com diagnóstico clínico e cirúrgico de otosclerose. Foi realizada uma análise tomográfica, em que foi avaliada a sensibilidade da TC no diagnóstico radiológico da otosclerose fenestral, sendo verificados os principais sítios de lesões dessa doença, como também a sua bilateralidade e simetria. Foram incluídos neste estudo 22 pacientes submetidos à TC de ossos temporais para investigação de outras afecções otológicas, que constituíram o grupo controle. RESULTADOS: A TC foi positiva em 87% dos pacientes (77% das orelhas. Os achados tomográficos foram bilaterais na maioria dos casos (78,7%, e o foco fenestral mais prevalente foi o foco anterior à janela oval (FAJO. CONCLUSÕES: A TC apresentou um alto índice de positividade e o FAJO foi o foco mais prevalente nessa população, podendo ser considerado um achado tomográfico altamente sugestivo de otosclerose.

Micoses do sistema nervoso

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Carlos da Silva Lacaz

1947-03-01

Full Text Available As micoses do sistema nervoso central não têm merecido atenção cuidadosa dos neurologistas. Elas afetam o neuraxe em diferente percentagem: a granulomatose criptocóccica (torulose é a mais freqüente, seguindo-se a actinomicose; a granulomatose paracoccidióidica só excepcionalmente determina lesões meningoencefálicas. Do ponto de vista clínico, as neuromicoses podem ser divididas em duas formas: tumorais encefalomedulares e meningíticas. Estas predominam sobre as tumorais, das quais são mais freqüentes as de localização encefálica. Não são raros os quadros mistos, meningoencetálicos. As formas tumorals encefálicas abrangem vários tipos anátomo-patológicos - abscesso, granuloma, nódulos e cistos - sendo mais comuns os dois primeiros, todos êles produzindo o quadro clinico da síndrome hipertensiva intracraniana. As formas meningomedulares, em geral, são secundárias às lesões ósseas vertebrais, sendo a actinomicose, por ser a mais osteófila, a micose que mais freqüentemente atinge a medula. Nestes casos, o quadro clínico da síndrome compressiva é o mais comum. As meninges participam do processo fúngico, na maior parte dos casos; as manifestações clínicas variam desde o simples meningismo, até as meningites purulentas e meningoencefalites graves, havendo a possibilidade de se formarem aracnoidites císticas, ependimites e bloqueios ventriculares, do aqueduto ou mesmo do canal raquidiano. O diagnóstico das micoses do sistema nervoso central é comumente um "achado de autópsia". Somente a verificação do cogumelo no líquor e o seu isolamento permitem um diagnóstico seguro. Outros dados liquóricos, quando bem interpretados com os achados clínicos e neurológicos, orientam o analista na pesquisa do agente fúngico. O quadro anátomo-patológico nada tem de caraterístico, a não ser a presença do agente parasitário e só o seu encontro firma o diagnóstico. Examinamos 25 casos de granulomatose

Basaloid Squamous Cell Carcinoma of the Head and Neck: Subclassification into Basal, Ductal, and Mixed Subtypes Based on Comparison of Clinico-pathologic Features and Expression of p53, Cyclin D1, Epidermal Growth Factor Receptor, p16, and Human Papillomavirus

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Kyung-Ja Cho

2017-07-01

Full Text Available Background Basaloid squamous cell carcinoma (BSCC is a rare variant of squamous cell carcinoma with distinct pathologic characteristics. The histogenesis of BSCC is not fully understood, and the cancer has been suggested to originate from a totipotent primitive cell in the basal cell layer of the surface epithelium or in the proximal duct of secretory glands. Methods Twenty-six cases of head and neck BSCC from Asan Medical Center, Seoul, Korea, reported during a 14-year-period were subclassified into basal, ductal, and mixed subtypes according to the expression of basal (cytokeratin [CK] 5/6, p63 or ductal markers (CK7, CK8/18. The cases were also subject to immunohistochemical study for CK19, p53, cyclin D1, epidermal growth factor receptor (EGFR, and p16 and to in situ hybridization for human papillomavirus (HPV, and the results were clinico-pathologically compared. Results Mixed subtype (12 cases was the most common, and these cases showed hypopharyngeal predilection, older age, and higher expression of CK19, p53, and EGFR than other subtypes. The basal subtype (nine cases showed frequent comedo-necrosis and high expression of cyclin D1. The ductal subtype (five cases showed the lowest expression of p53, cyclin D1, and EGFR. A small number of p16- and/or HPV-positive cases were not restricted to one subtype. BSCC was the cause of death in 19 patients, and the average follow-up period for all patients was 79.5 months. Overall survival among the three subtypes was not significantly different. Conclusions The results of this study suggest a heterogeneous pathogenesis of head and neck BSCC. Each subtype showed variable histology and immunoprofiles, although the clinical implication of heterogeneity was not determined in this study.

Clinico-Pathologic Presentation and Management of ...

African Journals Online (AJOL)

Von Recklinghausen's) Disease among North-Eastern Nigerians: A six year review. ... presentation and to highlight the need of multi disciplinary approach in the management of this condition. Methodology: The case records of patients who ...

Clinico epidemiological study of pitted keratolysis

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Naik Chandra

2007-01-01

Full Text Available Background: Pitted keratolysis is a common dermatological condition. However, very few studies are available on the clinical characteristics and epidemiological features of this disorder from India and abroad. Materials and Methods: Fifty patients from rural area of Kolar at Sri R.L.J.H. and S.N.R. Hospital, presenting with clinically distinctive lesions of pitted keratolysis were included in the study. Cases were interviewed with particular emphasis on triggering factors and findings were recorded. Investigations like Gram′s stain, culture studies, Wood′s ultraviolet light examination, histopathology etc, was done in selected cases to ascertain the clinical diagnosis. Results: Age of the patients varied from 20 to 40 years in 52% with male preponderance in 82% of cases. Duration of the disease varied from 15 days to five years, most of the patients were bare-footed farmers (62% of cases. Hyperhidrosis and pruritus were most frequently observed symptoms in 70% and 60% of patients. Most of the patients presented with the characteristic pits which varied from 1 to 50 in number in 56 % of cases, located predominantly on the pressure bearing areas in 92% of cases and depth of the pits varied from 1 to 2 mm in 60% of cases. Associated skin conditions recorded in present study were fissuring of soles in 38%, psoriasis 10%, dermatophyte infections in 6%, planter warts 6% and Corynebacterial triad and corn in 2% of patients each. Discussion: Affection of bare-footed individuals, male preponderance, presence of hyperhidrosis and occurrence of lesions over pressure bearing areas of soles, observed in the present study were consistent with earlier studies on the subject. However, pruritus as commonest presenting symptom reported by 60% patients in the present study, has not been documented in the previous studies. Conclusion: Pitted keratolysis is fairly common in bare footed male farmers of rural India. The condition is predominantly seen over the pressure bearing areas of sole and hyperhidrosis is common precipitating factor. Pruritus, a common presenting symptom observed in this study has not been reported earlier.

CYSTIC AMELOBLASTOMA: A CLINICO-PATHOLOGIC REVIEW

African Journals Online (AJOL)

a tertiary health care centre. Materials: All cases diagnosed as cystic ameloblastoma in the ..... Unicystic amelobla- stoma. A prognostically distinct entity. Cancer. 1977;40: 2278-2285. 4. Ackermann GL, Altini M, Shear M: The unicystic ameloblastoma: A clinicopathologic study of 57 cases. J Oral Pathol. 1988;17: 541-546. 5.

AIDS-related malignancies: clinico-radiological correlation

International Nuclear Information System (INIS)

Ferrozzi, F.; Bova, D.; Campodonico, F.; DeChiara, F.; Marini, M.; Bassi, P.

1995-01-01

Our goal is to report the imaging findings of the most frequent HIV-related malignant neoplasms and outline them in relation to their atypical biological and structural behaviour. It is our opinion that a careful evaluation of clinical history and status is mandatory for the proper diagnosis and staging in such pathologies. We also review the current etiopathogenetic theories that attempt to link these two deadly pathologies. (orig./MG)

Disordered eating attitudes: demographic and clinico ...

African Journals Online (AJOL)

Department of Psychiatry, Lagos University Teaching Hospital, PMB12003, ... attitudes among undergraduate students of two higher institutions in Lagos, Nigeria. .... as a profile of the eating attitudes of the sub-scale scores ..... lar studies conducted in Iran, Brazil and Canada where ..... Educational Research and Evaluation.