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1.
Int J Audiol ; 62(10): 946-954, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36047767

RESUMO

OBJECTIVE: In daily life, failure to perceive emotional expressions can result in maladjusted behaviour. For cochlear implant users, perceiving emotional cues in sounds remains challenging, and the factors explaining the variability in patients' sensitivity to emotions are currently poorly understood. Understanding how these factors relate to auditory proficiency is a major challenge of cochlear implant research and is critical in addressing patients' limitations. DESIGN: To fill this gap, we evaluated different auditory perception aspects in implant users (pitch discrimination, music processing and speech intelligibility) and correlated them to their performance in an emotion recognition task. STUDY SAMPLE: Eighty-four adults (18-76 years old) participated in our investigation; 42 cochlear implant users and 42 controls. Cochlear implant users performed worse than their controls on all tasks, and emotion perception abilities were correlated to their age and their clinical outcome as measured in the speech intelligibility task. RESULTS: As previously observed, emotion perception abilities declined with age (here by about 2-3% in a decade). Interestingly, even when emotional stimuli were musical, CI users' skills relied more on processes underlying speech intelligibility. CONCLUSIONS: These results suggest that speech processing remains a clinical priority even when one is interested in affective skills.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Música , Percepção da Fala , Adulto , Humanos , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Surdez/reabilitação , Percepção Auditiva , Emoções , Inteligibilidade da Fala , Percepção da Altura Sonora
2.
Acta Psychiatr Scand ; 142(1): 40-51, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32339254

RESUMO

BACKGROUND: Impairments of social cognition are considered core features of schizophrenia and are established predictors of social functioning. However, affective aspects of social cognition including empathy have far less been studied than its cognitive dimensions. The role of empathy in the development of schizophrenia remains largely elusive. METHODS: Emotional and cognitive empathy were investigated in large sample of 120 individuals at Clinical High Risk of Psychosis (CHR-P) and compared with 50 patients with schizophrenia and 50 healthy controls. A behavioral empathy assessment, the Multifaceted Empathy Test, was implemented, and associations of empathy with cognition, social functioning, and symptoms were determined. RESULTS: Our findings demonstrated significant reductions of emotional empathy in individuals at CHR-P, while cognitive empathy appeared intact. Only individuals with schizophrenia showed significantly reduced scores of cognitive empathy compared to healthy controls and individuals at CHR-P. Individuals at CHR-P were characterized by significantly lower scores of emotional empathy and unspecific arousal for both positive and negative affective valences compared to matched healthy controls and patients with schizophrenia. Results also indicated a correlation of lower scores of emotional empathy and arousal with higher scores of prodromal symptoms. CONCLUSION: Findings suggest that the tendency to 'feel with' an interaction partner is reduced in individuals at CHR-P. Altered emotional reactivity may represent an additional, early vulnerability marker, even if cognitive mentalizing is grossly unimpaired in the prodromal stage. Different mechanisms might contribute to reductions of cognitive and emotional empathy in different stages of non-affective psychotic disorders and should be further explored.


Assuntos
Cognição , Empatia , Transtornos Psicóticos/psicologia , Psicologia do Esquizofrênico , Cognição Social , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Sintomas Prodrômicos , Adulto Jovem
3.
Ann Pharm Fr ; 76(6): 489-498, 2018 Nov.
Artigo em Francês | MEDLINE | ID: mdl-30196933

RESUMO

Medication adherence can be defined as the link between "what the patient implements" and "what the patient and his doctor have decided together after negotiating without constrains". This definition should be put into perspective with the chronology of the disease and the way the patient experiences it. Counselling actions should always be adapted to the situation and negotiated with the patient, all along the process of care. This article proposes a model for this process and offers options pour tailored counselling. Key elements for pharmacist's practice are: simplify the prescription; communicate with the patient according to his stage of acceptation of the disease; get adequate training for motivational interviewing.


Assuntos
Adesão à Medicação , Cooperação do Paciente , Pacientes , Comunicação , Aconselhamento , Humanos , Farmacêuticos
4.
B-ENT ; 13(1 Suppl 27): 57-60, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29557564

RESUMO

Plunging ranula with prestyloid parapharyngeal space, masticator space, and parotid gland extension. INTRODUCTION: Ranulas develop from mucous extravasation secondary to sublingual gland duct obstruction or trauma. Plunging ranula usually dive into the submandibular space. METHODS: This is the first reported case of a plunging ranula with direct extension to the prestyloid parapharyngeal space, masticator space, and parotid gland with avoidance of the submandibular space. RESULTS: The patient presented with a tender parotid mass, of which the differential is broad, including parotitis, parotid malignancy, metastatic malignancy, lymphoma, as well as other infectious etiologies. When an intraoral component is not identified, other differential considerations would be thyroglossal duct cyst, branchial cleft cyst, parathyroid cyst, cervical thymic cyst, dermoid cyst, cystic hygroma, or benign teratoma. CONCLUSION: The case is unique due to ranula extension into multiple spaces. For optimal treatment, the sublingual gland along with its tract and contents needs to completely removed.


Assuntos
Rânula/patologia , Idoso , Humanos , Masculino , Doenças Parotídeas/etiologia , Faringe , Rânula/complicações , Rânula/diagnóstico por imagem , Rânula/terapia
5.
Diabetes Obes Metab ; 18(5): 508-18, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26863991

RESUMO

AIMS: To investigate the anorectic effect of L-arginine (L-Arg) in rodents. METHODS: We investigated the effects of L-Arg on food intake, and the role of the anorectic gut hormones glucagon-like peptide-1 (GLP-1) and peptide YY (PYY), the G-protein-coupled receptor family C group 6 member A (GPRC6A) and the vagus nerve in mediating these effects in rodents. RESULTS: Oral gavage of L-Arg reduced food intake in rodents, and chronically reduced cumulative food intake in diet-induced obese mice. Lack of the GPRC6A in mice and subdiaphragmatic vagal deafferentation in rats did not influence these anorectic effects. L-Arg stimulated GLP-1 and PYY release in vitro and in vivo. Pharmacological blockade of GLP-1 and PYY receptors did not influence the anorectic effect of L-Arg. L-Arg-mediated PYY release modulated net ion transport across the gut mucosa. Intracerebroventricular (i.c.v.) and intraperitoneal (i.p.) administration of L-Arg suppressed food intake in rats. CONCLUSIONS: L-Arg reduced food intake and stimulated gut hormone release in rodents. The anorectic effect of L-Arg is unlikely to be mediated by GLP-1 and PYY, does not require GPRC6A signalling and is not mediated via the vagus. I.c.v. and i.p. administration of L-Arg suppressed food intake in rats, suggesting that L-Arg may act on the brain to influence food intake. Further work is required to determine the mechanisms by which L-Arg suppresses food intake and its utility in the treatment of obesity.


Assuntos
Depressores do Apetite/uso terapêutico , Arginina/uso terapêutico , Suplementos Nutricionais , Fármacos Gastrointestinais/uso terapêutico , Peptídeo 1 Semelhante ao Glucagon/agonistas , Obesidade/dietoterapia , Peptídeo YY/agonistas , Animais , Depressores do Apetite/administração & dosagem , Depressores do Apetite/efeitos adversos , Depressores do Apetite/farmacologia , Arginina/administração & dosagem , Arginina/efeitos adversos , Células Cultivadas , Suplementos Nutricionais/efeitos adversos , Ingestão de Energia/efeitos dos fármacos , Metabolismo Energético/efeitos dos fármacos , Fármacos Gastrointestinais/administração & dosagem , Fármacos Gastrointestinais/efeitos adversos , Fármacos Gastrointestinais/farmacologia , Peptídeo 1 Semelhante ao Glucagon/sangue , Peptídeo 1 Semelhante ao Glucagon/metabolismo , Técnicas In Vitro , Injeções Intraperitoneais , Injeções Intraventriculares , Mucosa Intestinal/citologia , Mucosa Intestinal/efeitos dos fármacos , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patologia , Masculino , Camundongos Endogâmicos C57BL , Camundongos Knockout , Obesidade/tratamento farmacológico , Obesidade/metabolismo , Obesidade/patologia , Peptídeo YY/sangue , Peptídeo YY/metabolismo , Distribuição Aleatória , Ratos Wistar , Receptores Acoplados a Proteínas G/agonistas , Receptores Acoplados a Proteínas G/antagonistas & inibidores , Receptores Acoplados a Proteínas G/genética , Receptores Acoplados a Proteínas G/metabolismo , Redução de Peso/efeitos dos fármacos
6.
Eur Arch Psychiatry Clin Neurosci ; 266(4): 337-47, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25900468

RESUMO

Under certain conditions, coercive interventions in psychotic patients can help to regain insight and alleviate symptoms, but can also traumatize subjects. This study explored attitudes towards psychiatric coercive interventions in healthy individuals and persons suffering from schizophrenia, schizoaffective or bipolar disorder. The impact of personal history of coercive treatment on preferences concerning clinical management of patients unable to consent was investigated. Six case vignettes depicting scenarios of ethical dilemmas and demanding decisions in favour of or against coercive interventions were presented to 60 healthy volunteers and 90 patients. Structured interviews focusing on experienced coercion were performed in conjunction with the Coercion Experience Scale and the Admission Experience Survey. Symptom severity, psychosocial functioning and insight into illness were assessed as influencing variables. Student's t tests compared patients' and controls' judgments, followed by regression analyses to define the predictive value of symptoms and measures of coercion on judgments regarding the total patient sample and patients with experience of fixation. Patients and non-psychiatric controls showed no significant difference in their attitudes towards involuntary admission and forced medication. Conversely, patients more than controls significantly disapproved of mechanical restraint. Subjective experience of coercive interventions played an important role for the justification of treatment against an individual's "natural will". Factors influencing judgments on coercion were overall functioning and personal experience of treatment effectiveness and fairness. Qualitative and quantitative aspects of perceived coercion, in addition to insight into illness, predicted judgments of previously fixated patients. Results underline the importance of the quality of practical implementation and care, if coercive interventions cannot be avoided.


Assuntos
Coerção , Hospitais Psiquiátricos , Transtornos Mentais/psicologia , Transtornos Mentais/terapia , Restrição Física/métodos , Restrição Física/psicologia , Adolescente , Adulto , Feminino , Voluntários Saudáveis/psicologia , Humanos , Julgamento , Masculino , Transtornos Mentais/classificação , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Escalas de Graduação Psiquiátrica , Psicoterapia/métodos , Inquéritos e Questionários , Adulto Jovem
7.
Int J Obes (Lond) ; 39(3): 447-55, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25219528

RESUMO

BACKGROUND: High-protein diets promote weight loss and subsequent weight maintenance, but are difficult to adhere to. The mechanisms by which protein exerts these effects remain unclear. However, the amino acids produced by protein digestion may have a role in driving protein-induced satiety. METHODS: We tested the effects of a range of amino acids on food intake in rodents and identified l-cysteine as the most anorexigenic. Using rodents we further studied the effect of l-cysteine on food intake, behaviour and energy expenditure. We proceeded to investigate its effect on neuronal activation in the hypothalamus and brainstem before investigating its effect on gastric emptying and gut hormone release. The effect of l-cysteine on appetite scores and gut hormone release was then investigated in humans. RESULTS: l-Cysteine dose-dependently decreased food intake in both rats and mice following oral gavage and intraperitoneal administration. This effect did not appear to be secondary to behavioural or aversive side effects. l-Cysteine increased neuronal activation in the area postrema and delayed gastric emptying. It suppressed plasma acyl ghrelin levels and did not reduce food intake in transgenic ghrelin-overexpressing mice. Repeated l-cysteine administration decreased food intake in rats and obese mice. l-Cysteine reduced hunger and plasma acyl ghrelin levels in humans. CONCLUSIONS: Further work is required to determine the chronic effect of l-cysteine in rodents and humans on appetite and body weight, and whether l-cysteine contributes towards protein-induced satiety.


Assuntos
Depressores do Apetite/farmacologia , Apetite/efeitos dos fármacos , Cisteína/farmacologia , Ingestão de Alimentos/efeitos dos fármacos , Grelina/antagonistas & inibidores , Adulto , Animais , Depressores do Apetite/administração & dosagem , Cisteína/administração & dosagem , Relação Dose-Resposta a Droga , Feminino , Hormônios Gastrointestinais/metabolismo , Grelina/metabolismo , Humanos , Hipotálamo/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , RNA Mensageiro , Ratos , Ratos Wistar , Receptores dos Hormônios Gastrointestinais/metabolismo , Receptores de Neuropeptídeos/metabolismo , Saciação
8.
Environ Res ; 141: 86-95, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25440294

RESUMO

In 2011 and 2012, the COPHES/DEMOCOPHES twin projects performed the first ever harmonized human biomonitoring survey in 17 European countries. In more than 1800 mother-child pairs, individual lifestyle data were collected and cadmium, cotinine and certain phthalate metabolites were measured in urine. Total mercury was determined in hair samples. While the main goal of the COPHES/DEMOCOPHES twin projects was to develop and test harmonized protocols and procedures, the goal of the current paper is to investigate whether the observed differences in biomarker values among the countries implementing DEMOCOPHES can be interpreted using information from external databases on environmental quality and lifestyle. In general, 13 countries having implemented DEMOCOPHES provided high-quality data from external sources that were relevant for interpretation purposes. However, some data were not available for reporting or were not in line with predefined specifications. Therefore, only part of the external information could be included in the statistical analyses. Nonetheless, there was a highly significant correlation between national levels of fish consumption and mercury in hair, the strength of antismoking legislation was significantly related to urinary cotinine levels, and we were able to show indications that also urinary cadmium levels were associated with environmental quality and food quality. These results again show the potential of biomonitoring data to provide added value for (the evaluation of) evidence-informed policy making.


Assuntos
Biomarcadores/análise , Exposição Ambiental/análise , Exposição Ambiental/estatística & dados numéricos , Poluentes Ambientais/análise , Adulto , Biomarcadores/urina , Cádmio/análise , Cádmio/urina , Criança , Cotinina/urina , Interpretação Estatística de Dados , Monitoramento Ambiental/métodos , Monitoramento Ambiental/estatística & dados numéricos , Poluentes Ambientais/urina , Europa (Continente) , Feminino , Regulamentação Governamental , Cabelo/química , Humanos , Mercúrio/análise , Mercúrio/urina , População Rural/estatística & dados numéricos , Alimentos Marinhos/estatística & dados numéricos , Fumar/legislação & jurisprudência , Fumar/urina , Inquéritos e Questionários/normas , População Urbana/estatística & dados numéricos
9.
Environ Res ; 141: 3-14, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25746298

RESUMO

In 2004 the European Commission and Member States initiated activities towards a harmonized approach for Human Biomonitoring surveys throughout Europe. The main objective was to sustain environmental health policy by building a coherent and sustainable framework and by increasing the comparability of data across countries. A pilot study to test common guidelines for setting up surveys was considered a key step in this process. Through a bottom-up approach that included all stakeholders, a joint study protocol was elaborated. From September 2011 till February 2012, 17 European countries collected data from 1844 mother-child pairs in the frame of DEMOnstration of a study to COordinate and Perform Human Biomonitoring on a European Scale (DEMOCOPHES).(1) Mercury in hair and urinary cadmium and cotinine were selected as biomarkers of exposure covered by sufficient analytical experience. Phthalate metabolites and Bisphenol A in urine were added to take into account increasing public and political awareness for emerging types of contaminants and to test less advanced markers/markers covered by less analytical experience. Extensive efforts towards chemo-analytical comparability were included. The pilot study showed that common approaches can be found in a context of considerable differences with respect to experience and expertize, socio-cultural background, economic situation and national priorities. It also evidenced that comparable Human Biomonitoring results can be obtained in such context. A European network was built, exchanging information, expertize and experiences, and providing training on all aspects of a survey. A key challenge was finding the right balance between a rigid structure allowing maximal comparability and a flexible approach increasing feasibility and capacity building. Next steps in European harmonization in Human Biomonitoring surveys include the establishment of a joint process for prioritization of substances to cover and biomarkers to develop, linking biomonitoring surveys with health examination surveys and with research, and coping with the diverse implementations of EU regulations and international guidelines with respect to ethics and privacy.


Assuntos
Saúde Ambiental/métodos , Monitoramento Ambiental/métodos , Cooperação Internacional , Desenvolvimento de Programas , Biomarcadores/análise , Interpretação Estatística de Dados , Exposição Ambiental/análise , Europa (Continente) , Estudos de Viabilidade , Humanos , Projetos Piloto
10.
Osteoporos Int ; 25(11): 2657-62, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25001984

RESUMO

UNLABELLED: After introducing radiation-free spinometry as a diagnostic tool to predict prevalent vertebral fractures, its validity and comparison with established tools such as historical height loss (HHL) was missing. This study shows that radiation-free spinometry is valid and its application adds predictive power to the ability of HHL to assess presence of vertebral fractures. INTRODUCTION: Recently, radiation-free spinometry was introduced to identify patients with vertebral fractures (VFs). The goals of this study were to validate previous findings and to test the predictive accuracy of radiation-free spinometry compared to the assessment of historical height loss (HHL). METHODS: We analyzed 304 patients [258 (85%) females (age range, 42-90 years) and 46 males (50-84 years)], including 108 patients with VFs. We performed receiver operator characteristic and net reclassification improvement (NRI) analyses to quantify the predictive power and the added predictive ability of radiation-free spinometry and HHL for VFs. RESULTS: The estimated odds ratios in the thoracic and the lumbar spine showed no significant differences compared to the previously published, except for the effect of thoracic kyphosis in region "Th12 + L4-5." Radiation-free spinometry and HHL were both moderately accurate to raise suspicion for VFs. According to the NRI, which is defined as the net sum of the predicted risk increase in individuals who have VFs and the predicted net risk decrease for those who have not, we found significant improvements in all regions of interest when HHL and radiation-free spinometry were used in combination (area under the curve (AUC) 0.729-0.788). CONCLUSION: Our results based on a new data set suggest validity of the prognostic score published previously. In addition, although our findings did not confirm our initial hypothesis that radiation-free spinometry alone performs superior to the assessment of HHL to predict VFs, we showed that radiation-free spinometry still adds predictive power to the ability of HHL to discriminate patients with VFs.


Assuntos
Estatura , Fraturas por Osteoporose/diagnóstico , Fraturas da Coluna Vertebral/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Cifose/diagnóstico , Cifose/etiologia , Lordose/diagnóstico , Lordose/etiologia , Vértebras Lombares/lesões , Vértebras Lombares/patologia , Masculino , Pessoa de Meia-Idade , Fraturas por Osteoporose/complicações , Fotogrametria/métodos , Valor Preditivo dos Testes , Prognóstico , Fraturas da Coluna Vertebral/complicações , Vértebras Torácicas/lesões , Vértebras Torácicas/patologia
11.
J Evol Biol ; 27(1): 200-13, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24329900

RESUMO

In Tettigoniidae (Orthoptera: Ensifera), hearing organs are essential in mate detection. Male tettigoniids usually produce calling songs by tegminal stridulation, whereas females approach the males phonotactically. This unidirectional communication system is the most common one among tettigoniids. In several tettigoniid lineages, females have evolved acoustic replies to the male calling song which constitutes a bidirectional communication system. The genus Poecilimon (Tettigoniidae: Phaneropterinae) is of special interest because the ancestral state of bidirectional communication, with calling males and responding females, has been reversed repeatedly to unidirectional communication. Acoustic communication is mediated by hearing organs that are adapted to the conspecific signals. Therefore, we analyse the auditory system in the Tettigoniidae genus Poecilimon for functional adaptations in three characteristics: (i) dimension of sound-receiving structures (tympanum and acoustic spiracle), (ii) number of auditory sensilla and (iii) hearing sensitivity. Profound differences in the auditory system correlate with uni- or bidirectional communication. Among the sound-receiving structures, the tympana scale with body size, whereas the acoustic spiracle, the major sound input structure, was drastically reduced in unidirectional communicating species. In the unidirectional P. ampliatus group, auditory sensilla are severely reduced in numbers, but not in the unidirectional P. propinquus group. Within the P. ampliatus group, the number of auditory sensilla is further reduced in P. intermedius which lost acoustic signalling due to parthenogenesis. The auditory sensitivity correlated with the size of the acoustic spiracle, as hearing sensitivity was better with larger spiracles, especially in the ultrasonic range. Our results show a significant reduction in auditory structures, shaped by the differing sex roles during mate detection.


Assuntos
Evolução Biológica , Audição/genética , Ortópteros/fisiologia , Comportamento Sexual Animal , Vocalização Animal , Animais , Feminino , Masculino , Ortópteros/anatomia & histologia , Órgãos dos Sentidos/anatomia & histologia
12.
Lett Appl Microbiol ; 58(3): 292-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24236892

RESUMO

UNLABELLED: The aim of this study consisted in evaluating MALDI-TOF MS as a tool for the identification of the genus Brachyspira (B.) and its relevant species for the pig industry. First, a database was created with 30 control strains, and superspectra for five different porcine Brachyspira species were calculated. In a second step, 67 field isolates were investigated using MALDI-TOF MS, and results were compared to those obtained using nox gene-based RFLP (reference method) and biochemical tests. Among the 67 field isolates, five different Brachyspira species were detected using nox gene-based RFLP analysis. MALDI-TOF MS analysis correctly assigned all isolates to the genus Brachyspira and identified all isolates from B. hyodysenteriae (29/29), B. pilosicoli (11/11), B. intermedia (4/4) and B. innocens (11/11). In terms of B. murdochii, MALDI-TOF MS assigned one of 12 isolates ambiguously as B. innocens/B. murdochii. The results of this study indicate that MALDI-TOF MS facilitates the diagnosis of swine dysentery and porcine intestinal spirochaetosis. SIGNIFICANCE AND IMPACT OF THE STUDY: Current methods for the discrimination of pathogenic Brachyspira hyodysenteriae and Brachyspira pilosicoli from Brachyspira species with low pathogenic potential have proven to be laborious and time-consuming and are therefore not suitable for routine diagnostics. This study describes the evaluation of MALDI-TOF MS for the identification of different porcine Brachyspira species in routine diagnostic laboratories. The results suggest that MALDI-TOF MS is an effective method for the identification of porcine Brachyspira spp. and accelerates diagnosis of swine dysentery and porcine intestinal spirochaetosis.


Assuntos
Técnicas de Tipagem Bacteriana/métodos , Brachyspira/química , Brachyspira/isolamento & purificação , Infecções por Bactérias Gram-Negativas/veterinária , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Doenças dos Suínos/microbiologia , Animais , Sequência de Bases , Brachyspira/classificação , Brachyspira/genética , Infecções por Bactérias Gram-Negativas/diagnóstico , Infecções por Bactérias Gram-Negativas/microbiologia , Dados de Sequência Molecular , Filogenia , Sus scrofa , Suínos , Doenças dos Suínos/diagnóstico
13.
Pediatr Endocrinol Rev ; 11(3): 341-53, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24716402

RESUMO

The association between poverty, malnutrition, illness and poor socioeconomic conditions on the one side, and poor growth and short adult stature on the other side, is well recognized. Yet, the simple assumption by implication that poor growth and short stature result from poor living conditions, should be questioned. Recent evidence on the impact of the social network on adolescent growth and adult height further challenges the traditional concept of growth being a mirror of health. Twenty-nine scientists met at Glücksburg castle, Northern Germany, November 15th - 17th 2013, to discuss genetic, endocrine, mathematical and psychological aspects and related issues, of child and adolescent growth and final height.


Assuntos
Comportamento do Adolescente/psicologia , Desenvolvimento do Adolescente/fisiologia , Estatura/genética , Hormônios/fisiologia , Adolescente , Peso Corporal , Criança , Feminino , Alemanha , Nível de Saúde , Hormônio do Crescimento Humano/fisiologia , Humanos , Hipotálamo , Masculino , Desnutrição , Estado Nutricional , Grupo Associado , Apoio Social , Fatores Socioeconômicos
14.
Diabetologia ; 56(4): 758-62, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23385738

RESUMO

AIMS/HYPOTHESIS: 6q24 transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes presenting in the neonatal period that remits during infancy but, in a proportion of cases, recurs in later life. We aim to describe the clinical presentation of 6q24 TNDM in the largest worldwide cohort of patients with defined molecular aetiology, in particular seeking differences in presentation or clinical history between aetiological groups. METHODS: One-hundred and sixty-three patients with positively diagnosed 6q24 TNDM were ascertained from Europe, the Americas, Asia and Australia. Clinical data from referrals were recorded and stratified by the molecular aetiology of patients. RESULTS: 6q24 TNDM patients presented at a modal age of one day, with growth retardation and hyperglycaemia, irrespective of molecular aetiology. There was a positive correlation between age of presentation and gestational age, and a negative correlation between adjusted birthweight SD and age of remission. Congenital anomalies were significantly more frequent in patients with paternal uniparental disomy of chromosome 6 or hypomethylation of multiple imprinted loci defects than in those with 6q24 duplication or isolated hypomethylation defects. Patients with hypomethylation had an excess representation of assisted conception at 15%. CONCLUSIONS/INTERPRETATION: This, the largest case series of 6q24 TNDM published, refines and extends the clinical phenotype of the disorder and confirms its clinical divergence from other monogenic TNDM in addition to identifying previously unreported clinical differences between 6q24 subgroups.


Assuntos
Cromossomos Humanos Par 6 , Diabetes Mellitus/genética , Anormalidades Múltiplas/genética , Idade de Início , Estudos de Coortes , Metilação de DNA , Diabetes Mellitus/diagnóstico , Feminino , Estudos de Associação Genética , Impressão Genômica , Genótipo , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/genética , Masculino , Fenótipo , Indução de Remissão , Dissomia Uniparental/genética
15.
Br J Dermatol ; 169(6): 1279-87, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23889214

RESUMO

BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. OBJECTIVES: To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. METHODS: Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. RESULTS: Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. CONCLUSIONS: Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn.


Assuntos
Queimadura Solar/patologia , Xeroderma Pigmentoso/patologia , Adolescente , Adulto , Idade de Início , Estudos de Casos e Controles , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Melanoma/etnologia , Melanoma/mortalidade , Melanoma/patologia , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/etnologia , Doenças do Sistema Nervoso/mortalidade , Doenças do Sistema Nervoso/patologia , Neoplasias Cutâneas/etnologia , Neoplasias Cutâneas/patologia , Queimadura Solar/etnologia , Queimadura Solar/mortalidade , Xeroderma Pigmentoso/etnologia , Xeroderma Pigmentoso/mortalidade , Adulto Jovem
16.
Genome ; 56(11): 667-76, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24299106

RESUMO

The cytogenetic characteristics of 17 species of bushcricket belonging to eight genera of the tribe Barbitistini were examined by fluorescence in situ hybridization with 18S rDNA and (TTAGGn) telomeric as probes and by C-banding, silver, and fluorochrome staining. These markers were used to understand chromosomal organization and evolutionary relationships between genera or species within the same genus. The number of 18S rDNA clusters per haploid genome that co-localized with active nucleolus organizer regions (NORs) ranged from one to five, with the most common pattern being the presence of one NOR-bearing chromosome. This ribosomal cistron was preferentially located in the paracentromeric region of autosomes and very rarely in the sex chromosome. The results demonstrated coincidence between the localization of major ribosomal genes and active NORs and the position of C-band and GC-rich regions. The rDNA/NOR distribution and the composition of chromosome heterochromatin proved to be good cytogenetic markers for distinguishing species and phylogenetic lines and for understanding the genomic differentiation and evolution of Barbitistini. A comparison of cytogenetic and morphological or behavioral traits suggests that morphological and behavioral specialization in this group was not followed by major karyotype modification (except for Leptophyes). However, the occurrence and distribution of different repetitive DNA sites tends to vary among the taxa.


Assuntos
Análise Citogenética , Genes de Insetos , Variação Genética , Ortópteros/classificação , Ortópteros/genética , Animais , Cromossomos de Insetos , DNA Ribossômico/genética , Evolução Molecular , Feminino , Marcadores Genéticos , Genoma de Inseto , Hibridização in Situ Fluorescente , Região Organizadora do Nucléolo/genética , Filogenia , Telômero/genética
17.
Nat Genet ; 7(2): 189-94, 1994 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-7920640

RESUMO

DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other associated abnormalities, but no skin cancer. The XPD gene product, a DNA helicase, is required for nucleotide excision repair and recent evidence has demonstrated a role in transcription. We have now identified causative mutations in XPD in four TTD patients. The patients are all compound heterozygotes and the locations of the mutations enable us to suggest relationships between different domains in the gene and its roles in excision repair and transcription.


Assuntos
Reparo do DNA/genética , Doenças do Cabelo/genética , Xeroderma Pigmentoso/genética , Sequência de Aminoácidos , Sequência de Bases , Linhagem Celular , DNA/genética , DNA Helicases/genética , Teste de Complementação Genética , Humanos , Modelos Genéticos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Deleção de Sequência , Transcrição Gênica
18.
Ann Pharm Fr ; 71(2): 135-41, 2013 Mar.
Artigo em Francês | MEDLINE | ID: mdl-23537415

RESUMO

INTRODUCTION: Identifying the difficulties of the patient towards following his medication regimen remains complex for the healthcare provider. This can be explained by the multidimensional character of medication adherence and, actually, the evaluation of this phenomenon. The objective of this work was to review the various methods to measure medication adherence. METHODS: We performed a search on PubMed completed by a manual one. RESULTS: Two types of measure are described. The "direct" methods are based on the measurement of the level of medicine or metabolite in blood or urine, measurement of biologic markers in blood or measurement of physiologic or clinical markers. The "indirect" methods are represented by the analysis of the administrative databases (prescription, rate of prescription refills); pill counts; electronic medication monitors; the self-reported measures by the patient or his close relations (questionnaires, diaries, interviews); the opinion of the healthcare provider. DISCUSSION: None of these tools supplants the others, each having limits either of feasibility, or reliability. In the end, it is the crossing of the information stemming from these various equipments that allows an idea on the adherence behavior of the patient and especially, dimensions on which he is most in trouble. CONCLUSION: The identification of these difficulties can allow the healthcare provider to develop behavioral and organizational skills tailored to the patient follow-up.


Assuntos
Cooperação do Paciente/estatística & dados numéricos , Bases de Dados Factuais , Tratamento Farmacológico , Registros Eletrônicos de Saúde , Humanos , Adesão à Medicação , Cooperação do Paciente/psicologia , Preparações Farmacêuticas/sangue , Preparações Farmacêuticas/urina , Reprodutibilidade dos Testes , Inquéritos e Questionários
19.
Nutr Metab Cardiovasc Dis ; 22(9): 720-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21420841

RESUMO

BACKGROUND AND AIMS: Asymmetrical dimethylarginine (ADMA) may contribute to hypertension and cardiovascular disease by decreasing NO formation. In diabetic patients, a high fat meal acutely increased plasma ADMA while impairing endothelial function. We hypothesized that chronic and acute increases in dietary fat intake augment ADMA also in lean and in obese subjects without diabetes. METHODS AND RESULTS: Seventeen lean and twelve obese volunteers were randomized to two weeks of isocaloric diets with approximately 20% or >40% calories from fat in a cross-over fashion. At the end of the high and low fat periods, volunteers received corresponding test meals. ADMA was measured by GC-MS/MS using a deuterated standard. Mean fasting plasma ADMA concentration was 0.52 (0.49-0.54; 95% CI) µmol/l in lean and 0.53 (0.50-0.55) µmol/l in obese subjects (p = 0.55). The two week high fat diet did not influence ADMA. Both test meals elicited a 6%increase in circulating ADMA in lean subjects. In obese subjects, plasma ADMA concentration did not change with the low fat meal, and decreased by approximately 4% with the high fat meal. CONCLUSION: Our findings challenge the idea that obesity and dietary fat intake have a major effect on plasma ADMA, at least in subjects without overt cardiovascular and metabolic disease. This finding is important with regard to dietary recommendations for weight loss. Overestimation of the influence of dietary fat intake and obesity on circulating ADMA in previous reports was most likely due to methodological issues concerning ADMA measurements.


Assuntos
Arginina/análogos & derivados , Gorduras na Dieta/administração & dosagem , Obesidade/fisiopatologia , Adulto , Arginina/sangue , Cromatografia Gasosa , Estudos Cross-Over , Dieta , Ingestão de Alimentos , Ingestão de Energia , Feminino , Humanos , Masculino , Refeições , Nitratos/sangue , Nitritos/sangue , Espectrometria de Massas em Tandem
20.
Eur J Cancer Care (Engl) ; 21(2): 197-204, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21851433

RESUMO

The purpose was to assess the satisfaction and quality of life in patients with a totally implantable central venous port system using a questionnaire-based survey. A self-designed questionnaire to assess patient satisfaction and the impact of the port on daily life was dispatched 180 days after implantation. The questionnaire was combined with the commonly used short form (SF)-12 Health Survey quality of life questionnaire. Of the 98 patients who received a port system, 75 were contacted, and 42 (56%) returned the questionnaire. Most of the responding patients reported high overall satisfaction. The impact of the system on daily life was widely perceived not to be negative. The physical component summary (PCS) and the mental component summary (MCS) scores from the SF-12 were 35.5 and 45.23 respectively (general German population: PCS = 49.6, MCS = 52.3). The multiple stepwise regression showed that the cosmetic result was a predictor of overall satisfaction; the cosmetic result and a painful port together were predictors of the MCS. Overall, it was found that the cosmetic result of the implantation procedure was a predictor of satisfaction and quality of life and should thus not be underestimated.


Assuntos
Cateterismo Venoso Central , Satisfação do Paciente , Qualidade de Vida , Adulto , Idoso , Idoso de 80 Anos ou mais , Cateteres de Demora , Estética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Inquéritos e Questionários , Adulto Jovem
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