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1.
Eur Arch Psychiatry Clin Neurosci ; 272(7): 1241-1251, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34997853

RESUMEN

Schizophrenia has been associated with structural brain abnormalities and cognitive deficits that partly change during the course of illness. In the present study, cortical thickness in five subregions of the cingulate gyrus was assessed in 44 patients with schizophrenia-spectrum disorder and 47 control persons and related to illness duration and memory capacities. In the patients group, cortical thickness was increased in the posterior part of the cingulate gyrus and related to illness duration whereas cortical thickness was decreased in anterior parts unrelated to illness duration. In contrast, cortical thickness was related to episodic and working memory performance only in the anterior but not posterior parts of the cingulate gyrus. Our finding of a posterior cingulate increase may point to either increased parietal communication that is accompanied by augmented neural plasticity or to effects of altered neurodegenerative processes in schizophrenia.


Asunto(s)
Giro del Cíngulo , Esquizofrenia , Cognición , Giro del Cíngulo/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Memoria a Corto Plazo , Esquizofrenia/complicaciones , Esquizofrenia/diagnóstico por imagen
2.
Osteoporos Int ; 29(4): 927-935, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29374771

RESUMEN

In women, a large hip circumference (HC) related to lower hip fracture risk, independent of age and regardless if HC was measured long before or closer to the fracture. In older women, body mass index (BMI) explained the protection. INTRODUCTION: In postmenopausal women, HC has been suggested to inversely associate with hip fracture while this has not been investigated in middle-aged women. We examined the association between HC, measured at two different time points, and hip fracture in a Swedish female population-based sample monitored for incident hip fractures over many years. METHODS: Baseline HC, measured in 1968 or 1974 (n = 1451, mean age 47.6 years), or the HC measures that were the most proximal before event or censoring (n = 1325, mean age 71.7 years), were used to assess the effects of HC on hip fracture risk in women participating in the Prospective Population Study of Women in Gothenburg. HC was parameterized as quintiles with the lowest quintile (Q1) as reference. Incident hip fractures over 45 years of follow-up (n = 257) were identified through hospital registers. RESULTS: Higher quintiles of HC at both baseline and proximal to event were inversely associated with hip fracture risk in age-adjusted models, but only baseline HC predicted hip fractures independently of BMI and other covariates (HR (95% CI) Q2, 0.85 (0.56-1.27); Q3, 0.59 (0.36-0.96); Q4, 0.57 (0.34-0.96); Q5, 0.58 (0.31-1.10)). CONCLUSIONS: A large HC is protective against hip fracture in midlife and in advanced age, but the association between proximal HC and hip fracture was explained by concurrent BMI suggesting that padding was not the main mechanism for the association. The independent protection seen in middle-aged women points to other mechanisms influencing bone strength.


Asunto(s)
Fracturas de Cadera/epidemiología , Cadera/patología , Fracturas Osteoporóticas/epidemiología , Adulto , Antropometría/métodos , Índice de Masa Corporal , Femenino , Estudios de Seguimiento , Fracturas de Cadera/etiología , Fracturas de Cadera/patología , Fracturas de Cadera/prevención & control , Humanos , Incidencia , Persona de Mediana Edad , Fracturas Osteoporóticas/etiología , Fracturas Osteoporóticas/patología , Fracturas Osteoporóticas/prevención & control , Factores de Riesgo , Suecia/epidemiología
3.
Nervenarzt ; 89(3): 276-282, 2018 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-29480322

RESUMEN

The major objective of this paper is to discuss the available evidence on the question as to which patients benefit most from psychotherapy in psychotic disorders and the question of which kind of psychotherapy. From a methodological perspective, this task can be seen as the question of moderators of treatment success. To answer this question, the status of efficacy research on psychotherapeutic interventions in schizophrenia is summarized in a first step. Secondly, studies comparing different active psychotherapeutic approaches are discussed. There are no studies available on routine psychotherapeutic care. However, there appears to be a rationale for recommending a combination of cognitive behavioural therapy (CBT) and family therapy. If patients prefer other approaches or if the treatment model does not suit the patient, other approaches should be offered. There is evidence for CBT that insight into psychosis, female gender, a higher level of education, and age >21 are indicators of a better course in CBT. Overall, the options for differential indications are highly limited and considerably more research is required.


Asunto(s)
Psicoterapia/métodos , Trastornos Psicóticos/terapia , Adulto , Terapia Cognitivo-Conductual/métodos , Terapia Combinada , Medicina Basada en la Evidencia , Terapia Familiar/métodos , Femenino , Humanos , Masculino , Evaluación de Procesos y Resultados en Atención de Salud , Educación del Paciente como Asunto/métodos , Pronóstico , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/psicología
4.
Nervenarzt ; 87(1): 82-7, 2016 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-26099499

RESUMEN

BACKGROUND: Patients with mental illnesses, especially with schizophrenia, suffer from stigma and discrimination. In addition, the stigma is a barrier to recognising and treating patients with first-episode psychosis; however, a self-rating instrument that assesses the general burden due to stigma experiences is still lacking. MATERIAL AND METHODS: A total of N = 48 patients with first-episode schizophrenia who were participants in the multicenter first-episode (long-term) study within the German Research Network on Schizophrenia, completed a newly developed self-rating questionnaire to assess the burden due to stigma experiences (B-STE). The following variables were analyzed as possible correlates: psychopathology (CGI, PANSS, CDSS and HAM-D), global functioning (GAF), social adjustment (SAS), self-esteem (FSKN), as well as quality of life (LQLP), subjective well-being under neuroleptic treatment (SWN) and anticipated stigma (PDDQ). RESULTS: Of the participants 25 % showed an increased burden due to stigma experiences, which correlated with a lower quality of life, lower subjective well-being under neuroleptic treatment, lower self-esteem and higher anticipated stigma. The results indicate that patients rated higher on the CGI scale who are at the same time better socially adjusted (SAS), are more intensely affected by the burden due to stigma experiences. CONCLUSION: The short self-rating instrument burden due to stigma experiences (B-STE) can help to identify patients who might benefit from therapeutic or educational interventions to support coping with stigma experiences.


Asunto(s)
Calidad de Vida/psicología , Esquizofrenia/epidemiología , Psicología del Esquizofrénico , Discriminación Social/psicología , Discriminación Social/estadística & datos numéricos , Estereotipo , Adulto , Distribución por Edad , Femenino , Alemania/epidemiología , Humanos , Masculino , Prevalencia , Esquizofrenia/diagnóstico , Distribución por Sexo
5.
Acta Psychiatr Scand ; 127(6): 474-81, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22957829

RESUMEN

OBJECTIVE: To evaluate the predictive validity of early response in first-episode schizophrenia within a 1-year follow-up trial and to compare the resulting cutoff to the currently proposed early response definition (20% improvement by week 2). METHOD: Receiver operator characteristic (ROC) analyses were used to identify the predictive validity of the psychopathological improvement of treatment from week 1 to week 8, regarding the maintenance of response until week 52 as well as to define the most reasonable cutoff in 132 first-episode patients. The Youden Index (maximum of sensitivity and specificity) was used to compare the newly developed and the commonly used early response definition. RESULTS: Starting with week 6, a reasonable validity to predict the maintenance of response was found (area under the curve = 0.721) with the best fitting cutoff being a 51.6% PANSS total score improvement. Using this cutoff 74 patients (56%) were correctly identified to become responder and maintain response during follow-up (sensitivity: 0.747). The Youden Index was higher applying the newly developed early response cutoff featuring higher specificity compared to the commonly used early response definition. CONCLUSION: Regarding long-term treatment, it seems more appropriate to base predictions of the patient's maintenance of response not before 6 weeks of treatment.


Asunto(s)
Antipsicóticos/uso terapéutico , Haloperidol/uso terapéutico , Risperidona/uso terapéutico , Esquizofrenia/tratamiento farmacológico , Adulto , Progresión de la Enfermedad , Método Doble Ciego , Femenino , Humanos , Estudios Longitudinales , Masculino , Curva ROC , Esquizofrenia/diagnóstico , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
6.
Fortschr Neurol Psychiatr ; 81(5): 276-83, 2013 May.
Artículo en Alemán | MEDLINE | ID: mdl-23695792

RESUMEN

Multifaceted evidence suggests that patients in the early phase of a psychotic disorder need a specific treatment strategy meeting their specific needs and problems in this "critical" phase of the disorder. The present review summarises this evidence and presents early treatment approaches according to already internationally established different models, while in Germany comparable concepts are only in a pilot stage. Previous evaluation studies showed a superior efficacy of such early treatment approaches compared to conventional standard treatment in terms of both clinical outcome and in relation to the total costs of treatment. Questions remain, however, especially with regard to the specificity and durability of such effects, and with regard to the effective treatment components. Before similar programmes can be broadly established in Germany, a consensus on their indispensable characteristics and appropriate quality indicators should be achieved.


Asunto(s)
Esquizofrenia/terapia , Análisis Costo-Beneficio , Guías como Asunto , Humanos , Esquizofrenia/economía , Psicología del Esquizofrénico
7.
Nervenarzt ; 83(7): 907-18, 2012 Jul.
Artículo en Alemán | MEDLINE | ID: mdl-22733380

RESUMEN

On the basis of the scientific state of knowledge it is outlined that psychotherapy is an important part of an efficacious and guideline-compliant treatment of schizophrenia. Firstly, aspects of the methodologically sound British National Institute for Health and Clinical Excellence (NICE) guidelines regarding the field of psychosis psychotherapy are presented in which cognitive behavioral therapy and family interventions are recommended without restrictions. Afterwards, empirically substantiated starting points for psychosis psychotherapy are described, taking particular account of the cognitive model of delusions. Furthermore, disorder-specific strategies of building the therapeutic relationship are identified, which take account of symptoms, such as mistrust or affective flattening. Finally, the evidence-based therapeutic strategies for relapse prevention and symptom reduction are delineated. In conclusion, psychosis psychotherapy does not have an evidence problem but an implementation problem.


Asunto(s)
Medicina Basada en la Evidencia , Guías de Práctica Clínica como Asunto , Psicoterapia/normas , Trastornos Psicóticos/terapia , Esquizofrenia/terapia , Humanos , Psicoterapia/tendencias , Trastornos Psicóticos/complicaciones , Trastornos Psicóticos/diagnóstico , Esquizofrenia/complicaciones , Esquizofrenia/diagnóstico
8.
Acta Psychiatr Scand ; 123(3): 228-38, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21029053

RESUMEN

OBJECTIVE: To examine depressive symptoms, their course during treatment, and influence on outcome. METHOD: Weekly Calgary Depression Scale for Schizophrenia ratings were performed in 249 inpatients with schizophrenia. Early response was defined as a 20% reduction in the total score of the Positive and Negative Syndrome Scale for Schizophrenia from admission to week 2, response as a 50% reduction in the total score of the Positive and Negative Syndrome Scale for Schizophrenia (PANSS) from admission to discharge and remission according to the consensus criteria. RESULTS: Thirty six per cent of the patients were depressed at admission, with 23% of them still being depressed at discharge. Depressed patients scored significantly higher on the PANSS negative and general psychopathology subscore, featured more impairments in subjective well-being (P < 0.0001) and functioning (P < 0.0001). They suffered from more suicidality (P = 0.0021), and had greater insight into their illness (P = 0.0105). No significant differences were found regarding early response, response, and remission. CONCLUSION: Patients with depressive symptoms should be monitored closely, given the burden of negative symptoms, their impairments in well-being and functioning and the threat of suicidality.


Asunto(s)
Depresión/psicología , Escalas de Valoración Psiquiátrica , Psicología del Esquizofrénico , Adulto , Factores de Edad , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Humanos , Estimación de Kaplan-Meier , Modelos Logísticos , Masculino , Esquizofrenia/terapia , Ideación Suicida , Factores de Tiempo , Resultado del Tratamiento
9.
Intern Med J ; 41(2): 199-202, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22747555

RESUMEN

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial abnormalities. In approximately 80% of patients, the syndrome is associated with the A3243G mutation. However, it has been realized that the A3243G mutation is not uncommon in the general population and is found in many patients with clinical presentations other than MELAS. We present four patients who presented with rhabdomyolysis, muscle fatigue, external ophthalmoplegia and myoclonic jerks respectively. These patients were all found to have the A3243G mutation on muscle biopsy. These patients illustrate the variety of presentations associated with A3243G mutation.


Asunto(s)
Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Mutación/genética , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad
10.
Fortschr Neurol Psychiatr ; 79(9): 524-30, 2011 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-21870313

RESUMEN

Early onset psychoses (EOP, age of onset between age 14 and 18 years) are known to be associated with a poorer outcome than adult onset psychoses, both in terms of psychotic symptoms and social remission. For adult patients with psychosis, numerous cognitive-behavioral interventions have proven their effectiveness in recent years. This contrasts with a dearth of findings for EOP, even though it can be considered as a variant of adult onset psychosis. Thus, we have developed a cognitive-behavioral therapy intervention that was specifically adapted to the characteristics and needs of young people suffering from psychosis. The concept of the intervention is outlined in the present article. Acceptability and feasibility of the intervention are currently undergoing evaluation in a randomised, controlled pilot study.


Asunto(s)
Terapia Cognitivo-Conductual , Trastornos Psicóticos/psicología , Trastornos Psicóticos/terapia , Adolescente , Edad de Inicio , Antipsicóticos/uso terapéutico , Femenino , Humanos , Masculino , Pronóstico , Trastornos Psicóticos/tratamiento farmacológico , Resultado del Tratamiento
11.
Acta Psychiatr Scand ; 121(5): 340-50, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-19895624

RESUMEN

OBJECTIVE: There is little work demonstrating the effectiveness of cognitive behaviourally oriented interventions in routine service settings. This pragmatic trial is designed to test the impact of a group treatment service on relapse rates under the conditions of routine health care. METHOD: A total of 169 schizophrenia patients were randomly allocated either to a comprehensive cognitive behaviourally oriented service (CBOS) or to treatment as usual (TAU). The primary outcome is the time until the first relapse after discharge from hospital. Relapse was defined as an increase in positive or negative symptoms as assessed with the Positive and Negative Syndrome Scale. Survival analysis has been conducted up to the 6-month assessment. RESULTS: The mean time to relapse after discharge from hospital in the CBOS group was significantly longer than in the TAU group (log rank test, P = 0.033). This was due to less exacerbations regarding negative symptoms in the CBOS condition (log rank test, P = 0.014). The number of social contacts was improved in the CBOS group only. CONCLUSION: The CBOS intervention appears to be beneficial in reducing early negative symptom exacerbations.


Asunto(s)
Terapia Cognitivo-Conductual , Trastornos Psicóticos/rehabilitación , Esquizofrenia/rehabilitación , Psicología del Esquizofrénico , Adulto , Antipsicóticos/administración & dosificación , Terapia Combinada , Relación Dosis-Respuesta a Droga , Femenino , Alemania , Hospitales Psiquiátricos , Humanos , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Trastornos Psicóticos/psicología , Prevención Secundaria , Resultado del Tratamiento , Adulto Joven
12.
Acta Psychiatr Scand ; 121(5): 359-70, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-19878135

RESUMEN

OBJECTIVE: Purpose was to assess suicidality before and at the time of admission in patients with schizophrenia and compare outcome differences. METHOD: Biweekly PANSS (Positive and Negative Syndrome Scale), HAMD (Hamilton Depression Rating Scale) and UKU (Udvalg for Klinske Undersogelser Side Effect Rating Scale) ratings were evaluated in 339 in-patients with schizophrenic spectrum disorders. Response was defined as an initial 20% PANSS total score reduction at discharge, remission was defined according to the proposed consensus criteria by the Remission in Schizophrenia Working Group. RESULTS: Suicidal patients (22%) scored significantly higher on the PANSS negative subscore, PANSS insight item and HAMD total score at admission and at discharge. They developed significantly more side effects. No differences were found concerning response and remission between the two patient subgroups. CONCLUSION: Despite receiving significantly more antidepressants the suicidal patients suffered from significantly more depressive symptoms up to discharge, yet without differing regarding response and remission.


Asunto(s)
Esquizofrenia/epidemiología , Psicología del Esquizofrénico , Intento de Suicidio/psicología , Intento de Suicidio/estadística & datos numéricos , Enfermedad Aguda , Adulto , Acatisia Inducida por Medicamentos/diagnóstico , Acatisia Inducida por Medicamentos/epidemiología , Acatisia Inducida por Medicamentos/psicología , Antipsicóticos/efectos adversos , Antipsicóticos/uso terapéutico , Estudios de Cohortes , Comorbilidad , Estudios Transversales , Trastorno Depresivo Mayor/diagnóstico , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/psicología , Femenino , Alemania , Encuestas Epidemiológicas , Hospitales Universitarios , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Factores de Riesgo , Esquizofrenia/diagnóstico , Resultado del Tratamiento , Adulto Joven
13.
Pharmacopsychiatry ; 43(7): 245-51, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20927697

RESUMEN

BACKGROUND: The aim of this paper is to apply the proposed consensus remission criteria to an acutely ill inpatient sample at admission and evaluate their adaptability in this patient population and pharmaceutical trials. METHODS: The Remission in Schizophrenia Working Group's consensus criteria were applied to 272 acutely ill schizophrenia patients. Patients were examined using the PANSS, HAMD, UKU and SWN-K total scales at admission as well as the GAF, SOFAS and the Strauss-Carpenter Prognostic Scale. Sociodemographic and clinical baseline variables were assessed using a standardized documentation system. RESULTS: 33 patients (12%) fulfilled the symptom severity component of the proposed remission criteria already at baseline. Almost no significant differences were found when comparing patients with achieved and failed symptom severity component that would explain the hospitalization of the patients with achieved criteria despite their apparently mild psychopathological symptoms. The only explainable difference was that patients with an achieved symptom severity component had received significantly more antipsychotics and had suffered from significantly more life events before admission. CONCLUSION: The present results raise the question whether the symptom severity threshold is adequate to identify patients in remission when applied in clinical trials.


Asunto(s)
Antipsicóticos/uso terapéutico , Ensayos Clínicos como Asunto , Selección de Paciente , Esquizofrenia/diagnóstico , Esquizofrenia/tratamiento farmacológico , Adulto , Consenso , Conferencias de Consenso como Asunto , Femenino , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Psicología del Esquizofrénico , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Adulto Joven
14.
Public Health Nutr ; 13(5): 601-5, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-19968896

RESUMEN

OBJECTIVE: To measure dietary salt intake in a Swedish population. DESIGN: A cross-sectional study with measured 24 h urinary excretion of Na and K. Completeness of urine collection was assessed using p-aminobenzoic acid. The subjects were interviewed on their habitual food intake. SETTING: Sahlgrenska University Hospital, Gothenburg, Sweden. SUBJECTS: Eighty-six young men (age 18-20 years), randomly selected from the population of Gothenburg. Seven men were excluded due to incomplete urine collection. RESULTS: The mean excretion of Na and K over 24 h was 198 and 84 mmol, respectively (corresponding to 11.5 g NaCl and 3.3 g K). The mean 24 h excretion in the highest quartile of Na excretion was 297 mmol Na and 105 mmol K, and in the lowest quartile, 100 mmol Na and 68 mmol K. The mean Na:K ratio was 2.3, and respectively 3.2 and 1.8 in the highest and lowest Na excretion quartiles. Calculated energy intake did not differ between the highest and lowest quartiles of Na excretion, but body weight, BMI and the intake of certain foods known to be Na-rich did. CONCLUSIONS: Salt intake in young men was alarming high and even subjects in the lowest quartile of Na excretion did not meet present recommendations to limit salt intake to 5-6 g/d. At this point we can only speculate what the consequences of the high salt intake may be for CVD and stroke later in life. Regulation of the salt content in processed and fast food and in snacks is advocated, to curtail the salt burden on society imposed by the food industry.


Asunto(s)
Potasio en la Dieta/administración & dosificación , Potasio/orina , Cloruro de Sodio Dietético/administración & dosificación , Sodio/orina , Adolescente , Biomarcadores/orina , Índice de Masa Corporal , Peso Corporal/fisiología , Estudios Transversales , Ingestión de Energía/fisiología , Conducta Alimentaria , Humanos , Masculino , Política Nutricional , Cloruro de Sodio Dietético/metabolismo , Suecia , Adulto Joven
15.
Nervenarzt ; 80(1): 22, 24-5, 28-30, 2009 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-19212747

RESUMEN

There already exists sufficient evidence of the efficacy of psychotherapeutic interventions, in particular cognitive behavioral therapy, for symptom reduction and relapse prevention. Evidence-based treatment guidelines recommend this approach for routine care. An increasing number of randomized clinical trials and research on active elements of treatment characterize this field. This paper presents research and clinical implications. Treatment strategies for reducing positive and negative symptoms, which represent an innovative field of research, are presented and discussed in terms of efficacy, treatment principles, and possible future developments.


Asunto(s)
Ensayos Clínicos como Asunto/tendencias , Pautas de la Práctica en Medicina/tendencias , Psicoterapia/tendencias , Esquizofrenia/diagnóstico , Esquizofrenia/terapia , Humanos
16.
Eur J Clin Nutr ; 62(6): 695-703, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17440516

RESUMEN

OBJECTIVE: To investigate the intake of plant sterols and identify major dietary sources of plant sterols in the British diet. SUBJECTS: A total of 24 798 men and women recruited during 1993-1997, participating in the European Prospective Investigation into Cancer (EPIC-Norfolk). INTERVENTIONS: A database of the plant sterol (campesterol, beta-sitosterol, stigmasterol, campestanol and beta-sitostanol) content in foods, based on gas-liquid chromatography (GLC) analyses, was linked to nutritional intake data from food frequency questionnaires in the EPIC-Norfolk population. RESULTS: The mean (s.d.) intake of total plant sterols was 300 (108) mg/d for men and 293 (100) mg/d for women. Bread and other cereals, vegetables and added fats were the three major food sources of plant sterols representing 18.6 (8.9), 18.4 (8.5) and 17.3 (10.4)% of the total plant sterol intake respectively. Women had a higher plant sterol density than men (36.4 vs 32.8 mg/1000 kJ, P<0.001) and in relation to energy intake higher intakes of plant sterols from vegetables, bread and other cereals, added fats, fruits and mixed dishes (all P<0.001), whilst men had higher intakes of plant sterols from cakes, scones and chocolate, potatoes (all P<0.001) and other foods (P<0.01). CONCLUSIONS: The intake of plant sterols in UK, mainly from bread, cereals, fats and vegetables, is much higher than previously reported but comparable to recent European studies.


Asunto(s)
Encuestas sobre Dietas , Análisis de los Alimentos/métodos , Fitosteroles/administración & dosificación , Fitosteroles/análisis , Adulto , Anciano , Análisis de Varianza , Pan , Cromatografía de Gases/métodos , Estudios de Cohortes , Estudios Transversales , Bases de Datos Factuales , Grasas de la Dieta/análisis , Grano Comestible , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Distribución por Sexo , Encuestas y Cuestionarios , Reino Unido , Verduras
17.
Clin Exp Dermatol ; 33(6): 689-97, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18713255

RESUMEN

BACKGROUND: Epidermolysis bullosa simplex (EBS), the most common subtype of EB, is usually inherited as an autosomal dominant trait caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) genes. Recessive EBS (R-EBS) is extremely rare. METHODS: We present the first Australian patient diagnosed with R-EBS, to our knowledge, and a comprehensive review of genotypes and phenotypes of R-EBS reported cases. RESULTS: The female proband, of Turkish descent with consanguineous parentage, was referred to us at the age of 8 years. Clinically, she had a severe phenotype including generalized blisters, mucosal involvement and EB naevi. Immunofluorescence mapping and electron microscopy were consistent with a diagnosis of EBS. Staining for Keratin 14 (K14) was negative. The basal layer, however, reacted with monoclonal antibodies to keratins 6 (K6) and 16 (K16). Mutation screening from genomic DNA showed that the proband was homozygous for the truncation mutation Y204X in exon 3 of KRT14, and both unaffected parents were heterozygous for a single KRT14 Y204X mutation. The phenotype of our patient is reported in more detail and with longer follow-up than those of others published in the literature. DISCUSSION: The proband's phenotype was severe as an infant but improved with age, suggesting that an alternative keratin is pairing with K5 in her skin to compensate for the loss of K14--a novel biological compensatory mechanism. It is interesting that K6 and K16 were expressed, as these are normally positive in hyperproliferative skin disorders.


Asunto(s)
Epidermólisis Ampollosa/genética , Queratina-14/genética , Mutación , Australia , Niño , Consanguinidad , Epidermólisis Ampollosa/etnología , Epidermólisis Ampollosa/patología , Femenino , Técnica del Anticuerpo Fluorescente , Eliminación de Gen , Genes Recesivos , Homocigoto , Humanos , Queratina-16/genética , Queratina-6/genética , Linaje , Fenotipo , Piel/ultraestructura , Turquía/etnología
18.
J Clin Neurosci ; 14(7): 668-72, 2007 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-17451957

RESUMEN

We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylation type Ia (CDG-Ia) in their mid-20s. They experience mild mental retardation but manage to function independently in society. Their professions are library assistant, professional artistic painter and secretarial work. All three siblings have cerebellar hypoplasia and ataxia, but are able to ambulate easily. Two of the siblings have required strabismus surgical repairs. All have antithrombin III deficiency, osteoporosis, and mild dysmorphic features. Hypergonadotrophic hypogonadism was a feature of the two female siblings. A type 1 sialotransferrin pattern and phosphomannomutase (PMM) deficiency have been demonstrated. They are compound heterozygotes for R141H and L32R mutations in the PMM2 gene. While there is clinical heterogeneity in CDG-Ia, we believe that our patients are among the mildest of intellectually affected CDG-Ia patients reported to date.


Asunto(s)
Trastornos Congénitos de Glicosilación/complicaciones , Trastornos Congénitos de Glicosilación/genética , Fenotipo , Fosfotransferasas (Fosfomutasas)/deficiencia , Fosfotransferasas (Fosfomutasas)/genética , Adulto , Arginina/genética , Ataxia/etiología , Ataxia/genética , Enfermedades Cerebelosas/etiología , Trastornos Congénitos de Glicosilación/patología , Femenino , Histidina/genética , Humanos , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Lisina/genética , Imagen por Resonancia Magnética , Masculino , Mutación/genética , Osteoporosis/etiología , Osteoporosis/genética , Hermanos
19.
S. Afr. j. child health ; 16(3): 172-177, 2022. figures, tables
Artículo en Inglés | AIM | ID: biblio-1397741

RESUMEN

Background. Obesity poses a continuous health challenge in South Africa and disproportionately affects black African households. To target obesity in these settings, it is crucial to have an in-depth understanding of food choices made by affected households. Objectives. To explore how healthy food is perceived by women living in Soweto, and the facilitators of and barriers to buying and consuming this food. Methods. This was a qualitative study that utilized semi-structured interviews. Ten participants were recruited using purposive sampling. Interviews were audio-recorded, transcribed verbatim and analyzed using thematic analysis. The study took place in Soweto, South Africa, and was conducted from February to May 2019. Results. Six themes were developed from the data: perceptions of healthy food; protecting family members from unhealthy food; learning about healthy food; appreciation by the family; home-cooked food v. food bought on the street; and budgetary restrictions. The first three themes were grouped by the overarching theme 'consciousness of healthfulness of food', and the last three themes were grouped by the theme 'influences of the family and environment on food choice'. Conclusions. A focus on the whole family's dietary behaviours is recommended and, in future interventions, guidance communicated in intervention materials should be tailored to existing knowledge of healthy eating.


Asunto(s)
Humanos , Masculino , Femenino , Cuidadores , Alimentos Integrales , Alimentos Vendidos en la Vía Pública , Comida Rápida , Calidad de los Alimentos
20.
Eur Psychiatry ; 30(1): 43-50, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25541347

RESUMEN

BACKGROUND: Aim was to examine depressive symptoms in acutely ill schizophrenia patients on a single symptom basis and to evaluate their relationship with positive, negative and general psychopathological symptoms. METHODS: Two hundred and seventy-eight patients suffering from a schizophrenia spectrum disorder were analysed within a naturalistic study by the German Research Network on Schizophrenia. Using the Calgary Depression Scale for Schizophrenia (CDSS) depressive symptoms were examined and the Positive and Negative Syndrome Scale (PANSS) was applied to assess positive, negative and general symptoms. Correlation and factor analyses were calculated to detect the underlying structure and relationship of the patient's symptoms. RESULTS: The most prevalent depressive symptoms identified were depressed mood (80%), observed depression (62%) and hopelessness (54%). Thirty-nine percent of the patients suffered from depressive symptoms when applying the recommended cut-off of a CDSS total score of >6 points at admission. Negligible correlations were found between depressive and positive symptoms as well as most PANSS negative and global symptoms despite items on depression, guilt and social withdrawal. The factor analysis revealed that the factor loading with the PANSS negative items accounted for most of the data variance followed by a factor with positive symptoms and three depression-associated factors. LIMITATIONS: The naturalistic study design does not allow a sufficient control of study results for the effect of different pharmacological treatments possibly influencing the appearance of depressive symptoms. CONCLUSION: Results suggest that depressive symptoms measured with the CDSS are a discrete symptom domain with only partial overlap with positive or negative symptoms.


Asunto(s)
Depresión/diagnóstico , Culpa , Esquizofrenia/diagnóstico , Psicología del Esquizofrénico , Enfermedad Aguda , Adulto , Afecto , Análisis Factorial , Femenino , Alemania , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Escalas de Valoración Psiquiátrica , Proyectos de Investigación , Índice de Severidad de la Enfermedad
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