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1.
Support Care Cancer ; 29(5): 2289-2298, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33188476

RESUMEN

PURPOSE: While there is increasing evidence for the effectiveness of psychosocial support programs for cancer patients, little attention has been paid to creativity or art as a way of addressing their psychological problems and improving quality of life. This review provides an overview of interventional studies that investigate the effects of art therapy interventions on anxiety, depression, and quality of life in adults with cancer. METHODS: We conducted a literature review with a systematic search. The databases PubMed/MEDLINE, PsycINFO, and EMBASE were searched for articles on art therapy among adult (18 years and above) cancer patients, published between September 2009 up to September 2019. Search terms were established for each database specifically. A total of 731 publications was assessed for relevance by title and abstract. The remaining 496 articles were examined using three inclusion criteria: interventions were guided by an artist or art therapist, participants were actively involved in the creative process, and anxiety, depression, and/or quality of life were included as outcome measures. Methodological quality of the included studies was appraised using specific checklists. RESULTS: Seven papers met the inclusion criteria. Data was extracted from three non-randomized intervention studies and four randomized controlled trials. All studies used a quantitative design with validated outcome measures. Four articles described positive effects of art therapy on anxiety, depression, or quality of life in adults with cancer. CONCLUSION: Art therapy could possibly help decrease symptoms of anxiety and depression, and improve quality of life in adult cancer patients. However, because of the heterogeneity of the interventions and limited methodological quality of the studies, further research using stringent methods is needed.


Asunto(s)
Ansiedad/terapia , Arteterapia/métodos , Depresión/terapia , Neoplasias/psicología , Neoplasias/terapia , Calidad de Vida/psicología , Humanos
2.
J Endocrinol Invest ; 42(9): 1067-1076, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30840207

RESUMEN

PURPOSE: Little attention has been directed towards examining the impact of predictors on change in health-related quality of life (HRQOL) within the course of growth hormone (GH) treatment in pediatric short stature. We aimed to assess changes in HRQOL and its sociodemographic, clinical and psychosocial predictors in children and adolescents diagnosed with growth hormone deficiency (GHD), and born short for gestational age (SGA) before and 12-month after start of GH treatment from the parents' perspective. Results were compared with an untreated group with idiopathic short stature (ISS). In this prospective multicenter study, 152 parents of children/adolescents (aged 4-18 years) provided data on their children's HRQOL at baseline and at 12-month follow-up. METHOD: Repeated-measures multivariate analyses of covariance were performed to examine parent-reported HRQOL changes from baseline to 1-year after treatment and hierarchical linear regressions to identify the predictors of HRQOL changes. RESULTS: Results showed that parents of children that were treated with GH report an increase in their children's HRQOL after 1 year. Changes in HRQOL were mostly explained by psychosocial predictors followed by sociodemographic and clinical variables. Specifically, the diagnosis SGA significantly predicted a greater increase in parent-reported HRQOL. Furthermore, a lower caregiving burden significantly predicted a decrease in parent-reported HRQOL. CONCLUSION: In conclusion, a substantial percentage of explained variance in HRQOL relates to psychosocial and sociodemographic predictors. However, there appears to be other important factors that are predictors of HRQOL, which need to be determined in large, population-based samples.


Asunto(s)
Enanismo Hipofisario/psicología , Hormona de Crecimiento Humana/administración & dosificación , Padres/psicología , Calidad de Vida , Encuestas y Cuestionarios/estadística & datos numéricos , Adolescente , Estatura , Niño , Preescolar , Enanismo Hipofisario/tratamiento farmacológico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pronóstico , Estudios Prospectivos , Psicometría
3.
Radiat Res ; 189(5): 449-455, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29494324

RESUMEN

The degree of severity of hematologic acute radiation syndrome (HARS) may vary across the range of radiation doses, such that dose alone may be a less reliable predictor of clinical course. We sought to elucidate the relationship between absorbed dose and risk of clinically relevant HARS in humans. We used the database SEARCH (System for Evaluation and Archiving of Radiation Accidents based on Case Histories), which contains the histories of radiation accident victims. From 153 cases we extracted data on dose estimates using the dicentric assay to measure individual biological dosimetry. The data were analyzed according to the corresponding hematological response categories of clinical significance (H1-4). These categories are derived from the medical treatment protocols for radiation accident victims (METREPOL) and represent the clinical outcome of HARS based on severity categories ranging from 1-4. In addition, the category H0 represents a post-exposure hematological response that is within the normal range for nonexposed individuals. Age at exposure, gender and ethnicity were considered as potential confounders in unconditional cumulative logistic regression analysis. In most cases, victims were Caucasian (82.4%) and male (92.8%), who originated from either the Chernobyl (69.3%) or Goiânia (10.5%) accident, and nearly 60% were aged 20-40 years at time of exposure. All individuals were whole-body exposed (mean 3.8 Gy, stdev ±3.1), and single exposures were predominantly reported (79%). Seventy percent of victims in category H0 were exposed to ≤1 Gy, with rapidly decreasing proportions of H0 seen at doses up to 5 Gy. There were few HARS H4 cases reported at exposed dose of 1-2 Gy, while 82% of H4 cases received doses of >5 Gy. HARS H1-3 cases varied among dose ranges from 1-5 Gy. In summary, single whole-body radiation doses <1 Gy and >5 Gy corresponded in general with H0 and H3-4, respectively, and this was consistent with medical expectations. This underlines the usefulness of dose estimates for HARS prediction. However, whole-body doses between 1-5 Gy poorly corresponded to HARS H1-3. The dose range of 1-5 Gy was of limited value for medical decision-making regarding, e.g., hospitalization for H2-3, but not H1 and treatment decisions that differ between H1-3. Also, there were some H0 cases at high doses and H2-4 cases at low doses, thereby challenging an individual recommendation based solely on dose.


Asunto(s)
Síndrome de Radiación Aguda/etiología , Enfermedades Hematológicas/etiología , Dosis de Radiación , Liberación de Radiactividad Peligrosa , Índice de Severidad de la Enfermedad , Síndrome de Radiación Aguda/epidemiología , Adolescente , Adulto , Niño , Bases de Datos Factuales , Femenino , Enfermedades Hematológicas/epidemiología , Humanos , Masculino , Radiometría , Adulto Joven
4.
Radiat Res ; 188(2): 156-168, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28590841

RESUMEN

Rapid clinical triage of radiation injury patients is essential for determining appropriate diagnostic and therapeutic interventions. We examined the utility of blood cell counts (BCCs) in the first three days postirradiation to predict clinical outcome, specifically for hematologic acute radiation syndrome (HARS). We analyzed BCC test samples from radiation accident victims (n = 135) along with their clinical outcome HARS severity scores (H1-4) using the System for Evaluation and Archiving of Radiation Accidents based on Case Histories (SEARCH) database. Data from nonirradiated individuals (H0, n = 132) were collected from an outpatient facility. We created binary categories for severity scores, i.e., 1 (H0 vs. H1-4), 2 (H0-1 vs. H2-4) and 3 (H0-2 vs. H3-4), to assess the discrimination ability of BCCs using unconditional logistic regression analysis. The test sample contained 454 BCCs from 267 individuals. We validated the discrimination ability on a second independent group comprised of 275 BCCs from 252 individuals originating from SEARCH (HARS 1-4), an outpatient facility (H0) and hospitals (e.g., leukemia patients, H4). Individuals with a score of H0 were easily separated from exposed individuals based on developing lymphopenia and granulocytosis. The separation of H0 and H1-4 became more prominent with increasing hematologic severity scores and time. On day 1, lymphocyte counts were most predictive for discriminating binary categories, followed by granulocytes and thrombocytes. For days 2 and 3, an almost complete separation was achieved when BCCs from different days were combined, supporting the measurement of sequential BCC. We found an almost complete discrimination of H0 vs. irradiated individuals during model validation (negative predictive value, NPV > 94%) for all three days, while the correct prediction of exposed individuals increased from day 1 (positive predictive value, PPV 78-89%) to day 3 (PPV > 90%). The models were unable to provide predictions for 10.9% of the test samples, because the PPVs or NPVs did not reach a 95% likelihood defined as the lower limit for a prediction. We developed a prediction model spreadsheet to provide early and prompt diagnostic predictions and therapeutic recommendations including identification of the worried well, requirement of hospitalization or development of severe hematopoietic syndrome. These results improve the provisional classification of HARS. For the final diagnosis, further procedures (sequential diagnosis, retrospective dosimetry, clinical follow-up, etc.) must be taken into account. Clinical outcome of radiation injury patients can be rapidly predicted within the first three days postirradiation using peripheral BCC.


Asunto(s)
Síndrome de Radiación Aguda/sangre , Síndrome de Radiación Aguda/diagnóstico , Recuento de Células Sanguíneas , Triaje , Síndrome de Radiación Aguda/etiología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Curva ROC , Estudios Retrospectivos , Programas Informáticos , Factores de Tiempo , Irradiación Corporal Total/efectos adversos , Adulto Joven
5.
Radiat Res ; 187(3): 273-286, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-28218888

RESUMEN

The utility of early-phase (≤5 days) radiation-induced clinical signs and symptoms (e.g., vomiting, diarrhea, erythema and changes in blood cell counts) was examined for the prediction of later occurring acute radiation syndrome (ARS) severity and the development of medical management strategies. Medical treatment protocols for radiation accident victims (METREPOL) was used to grade ARS severities, which were assigned response categories (RCs). Data on individuals (n = 191) with mild (RC1, n = 45), moderate (RC2, n = 19), severe (RC3, n = 20) and fatal (RC4, n = 18) ARS, as well as nonexposed individuals (RC0, n = 89) were generated using either METREPOL (n = 167) or the system for evaluation and archiving of radiation accidents based on case histories (SEARCH) database (n = 24), the latter comprised of real-case descriptions. These data were converted into tables reflecting clinical signs and symptoms, and submitted to eight teams representing five participating countries. The teams were comprised of medical doctors, biologists and pharmacists with subject matter expertise. The tables comprised cumulated clinical data from day 1-3 and day 1-5 postirradiation. While it would have reflected a more realistic scenario to provide the data to the teams over the course of a 3- or 5-day period, the logistics of doing so proved too challenging. In addition, the team members participating in this exercise chose to receive the cumulated reports of day 1-3 and 1-5. The teams were tasked with predicting ARS incidence, ARS severity and the requirement for hospitalization for multiple cases, as well as providing the certainty of their diagnosis. Five of the teams also performed dose estimates. The teams did not employ harmonized methodologies, and the expertise among the members varied, as did the tools used and the means of analyzing the clinical data. The earliest report time was 3 h after the tables were sent to the team members. The majority of cases developing ARS (89.6% ± 3.3 SD) and requiring hospitalization (88.8% ± 4.6 SD) were correctly identified by all teams. Determination of ARS severity was particularly challenging for RC2-3, which was systematically overestimated. However, RC4 was correctly predicted at 94-100% by all teams. RC0 and RC1 ARS severities were more difficult to discriminate. When reported RCs (0-1 and 3-4) were merged, on average 89.6% (±3.3 SD) of all cases could be correctly classified. Comparisons on frequency distributions revealed no statistically significant differences among the following: 1. reported ARS from different teams (P > 0.2); 2. cases generated based on METREPOL or SEARCH (P > 0.5); or 3. results reported at day 3 and 5 postirradiation (P > 0.1). Dose estimates of all teams increased significantly along with ARS severity (P < 0.0001) as well as with dose estimates generated from dicentric chromosomal-aberration measurements available for SEARCH cases (P < 0.0001). In summary, early-phase radiation-induced clinical signs and symptoms proved to be useful for rapid and accurate assessment, with minor limitations, toward predicting life-threatening ARS severity and developing treatment management strategies.


Asunto(s)
Síndrome de Radiación Aguda/diagnóstico , Incidentes con Víctimas en Masa , Síndrome de Radiación Aguda/terapia , Hospitalización , Humanos , Agencias Internacionales , Dosis de Radiación , Liberación de Radiactividad Peligrosa , Factores de Tiempo
6.
Klin Padiatr ; 227(4): 199-205, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26038964

RESUMEN

BACKGROUND: The German study group for quality assurance in pediatric endocrinology and the University of Ulm have established a software ("Hypo Dok") for the documentation of longitudinal data of patients with congenital primary hypothyroidism (CH). Aim of this study was to analyse the long-term follow-up of patients with CH and to compare treatment with current guidelines. METHODS/PATIENTS: Anonymised data of 1,080 patients from 46 centres were statistically analysed. RESULTS: Newborn screening result was available at a mean age of 7.3 days. Confirmation of the diagnosis was established at 8.4 days and therapy was started at 11 days. The average screening TSH was 180.0 mIU/L. During the first 3 months mean levothyroxine (LT4) dose was 10.7 µg/kg/day or 186.0 µg/m²/day. Weight-, BMI- and height-SDS did not differ significantly from the normal population. Only 25% of the patients (n=262) underwent formal EQ/IQ-testing. Their average IQ was 98.8 ± 13.2 points. DISCUSSION: In Germany screening, confirmation and start of treatment of CH are within the recommended time frame of 14 days. Initial LT4-doses are adequate. The auxological longterm outcome of young CH patients is normal. The implementation of standardized IQ testing has to be improved in routine patient care. CONCLUSION: Longitudinal data of patients with CH was analysed and compared to current guidelines. Confirmation and start of treatment are according to the recommendations. However standardised IQ testing requires improvement.


Asunto(s)
Hipotiroidismo Congénito/tratamiento farmacológico , Cuidados a Largo Plazo , Sistema de Registros , Programas Informáticos , Tiroxina/uso terapéutico , Hipotiroidismo Congénito/diagnóstico , Femenino , Alemania , Adhesión a Directriz , Humanos , Lactante , Recién Nacido , Inteligencia/efectos de los fármacos , Estudios Longitudinales , Masculino , Tamizaje Neonatal , Garantía de la Calidad de Atención de Salud , Resultado del Tratamiento
7.
Klin Padiatr ; 227(5): 278-83, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26090996

RESUMEN

BACKGROUND: 21-Hydroxylase deficient (21-OHD) classic congenital adrenal hyperplasia (CAH) is a potentially lethal inherited endocrine disorder. It is included in many neonatal screening programs to prevent morbidity and mortality from salt-wasting and to reduce long-term health problems. This paper presents a population-based evaluation of CAH screening quality and outcome in Bavaria between 1999 and 2011 including long-term follow-up of patients. METHODS: Screening process quality, clinical complications during the neonatal period, treatment and development of patients up to the age of 4 years were analysed. RESULTS: Among 1 420 102 screened infants, 114 cases of 21-OHD classic CAH were detected (prevalence 1:12 457). Mean age at start of treatment was 7 days. However, in 29 cases (25.4%), age at start of treatment was 12 days or more. The frequency of neonatal salt-wasting increased with age at start of treatment, but all neonatal salt-wasting episodes and crises were managed successfully. Up to the age of 4 years, developmental assessment of the CAH cohort yielded normal results. DISCUSSION: Epidemiological and screening effectiveness results are in keeping with other publications. For the most part, screening process times were compliant with guidelines. The Bavarian CAH screening and tracking system proved successful, but there were process delays and complications which might have been avoidable. The outcome supports the benefits of CAH screening, but further research is necessary to increase CAH screening effectiveness and to evaluate long-term effects.


Asunto(s)
Hiperplasia Suprarrenal Congénita/diagnóstico , Tamizaje Neonatal , Hiperplasia Suprarrenal Congénita/epidemiología , Hiperplasia Suprarrenal Congénita/terapia , Factores de Edad , Preescolar , Estudios Transversales , Femenino , Alemania , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Masculino , Garantía de la Calidad de Atención de Salud
8.
J Dev Orig Health Dis ; 6(4): 317-26, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25989725

RESUMEN

Idiopathic intrauterine growth restriction (IUGR) is a result of impaired placental nutrient supply. Newborns with IUGR exhibiting postnatal catch-up growth are of higher risk for cardiovascular and metabolic co-morbidities in adult life. Mammalian target of rapamycin (mTOR) was recently shown to function as a placental nutrient sensor. Thus, we determined possible correlations of members of the placental mTOR signaling cascade with auxologic parameters of postnatal growth. The protein expression and activity of mTOR-pathway signaling components, Akt, AMP-activated protein kinase α, mTOR, p70S6kinase1 and insulin receptor substrate-1 were analysed via western blotting in IUGR v. matched appropriate-for-gestational age (AGA) placentas. Moreover, mTOR was immunohistochemically stained in placental sections. Data from western blot analyses were correlated with retrospective auxological follow-up data at 1 year of age. We found significant catch-up growth in the 1st year of life in the IUGR group. MTOR and its activated form are immunohistochemically detected in multiple placental compartments. We identified correlations of placental mTOR-pathway signaling components to auxological data at birth and at 1 year of life in IUGR. Analysis of the protein expression and phosphorylation level of mTOR-pathway components in IUGR and AGA placentas postpartum, however, did not reveal pathognomonic changes. Our findings suggest that the level of activated mTOR correlates with early catch-up growth following IUGR. However, the complexity of signals converging at the mTOR nexus and its cellular distribution pattern seem to limit its potential as biomarker in this setting.


Asunto(s)
Desarrollo Infantil/fisiología , Retardo del Crecimiento Fetal/metabolismo , Placenta/metabolismo , Serina-Treonina Quinasas TOR/metabolismo , Proteínas Quinasas Activadas por AMP/metabolismo , Estudios de Casos y Controles , Femenino , Humanos , Lactante , Recién Nacido , Proteínas Sustrato del Receptor de Insulina/metabolismo , Embarazo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Proteínas Quinasas S6 Ribosómicas 70-kDa/metabolismo , Transducción de Señal
9.
Geburtshilfe Frauenheilkd ; 75(12): 1232-1238, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28435171

RESUMEN

Purpose: This guideline of the German Society of Pediatric Endocrinology and Diabetology (DGKED) is designed to be experts' opinion on the current concept of prenatal therapy for congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). Several scientific medical societies have also participated in the guideline. It aims to offer guidance to physicians when they counsel affected families about prenatal therapy. Methods: The experts commissioned by the medical societies developed a consensus in an informal process. The consensus was subsequently confirmed by the steering committees of the respective medical societies. Recommendations: Prenatal CAH therapy is an experimental therapy. We recommend designing and using standardized protocols for the prenatal diagnosis, therapy and long-term follow-up of women and children treated prenatally with dexamethasone. If long-term follow-up is not possible, then prenatal therapy should not be performed.

10.
Dtsch Med Wochenschr ; 139(46): 2335-8, 2014 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-25369043

RESUMEN

INTRODUCTION: Little is known about the health-related quality of life of young adults with childhood onset idiopathic growth hormone deficiency or neurosecretory dysfunction of growth hormone secretion, who have been treated with recombinant human growth hormone (GH). METHODS: Patients were diagnosed and treated with human growth hormone at the University Children´s Hospital in Erlangen (n=85). The data of both groups were merged for analysis, because no difference between idiopathic growth hormone deficiency and neurosecretory dysfunction of growth hormone secretion in auxological. Data were found. Health-related quality of life was cross- sectionally assessed after the end of growth hormone therapy with the Short Form-36 Health Survey and the Nottingham Health Profiles for which population based norm data are available. RESULTS: At the time of the survey, the patients (53 m, 32 f) were 23.5 ±â€…4.6 years old. At start of GH therapy, age was 10.5 ±â€…2.8 and at the end 16.3 ±â€…1,4 years. At start, height SDS was -3.20 ±â€…1.06. GH dose was 0,026 ±â€…0,012 mg/kg/d (daily s. c.-injections). The increase in height SDS after the end of GH therapy was 1.69 ±â€…1.22.  Compared to the reference population, patients reported significantly lower scores on the scales energy level, vitality, social functioning, indicating a greater social isolation, a stronger emotional reaction, an increased loss of mobility and a worse psychological state. CONCLUSION: Young adults report specific impairments after completion of GH therapy.


Asunto(s)
Tamaño Corporal/efectos de los fármacos , Enanismo/tratamiento farmacológico , Enanismo/psicología , Hormona del Crecimiento/deficiencia , Hormona de Crecimiento Humana/uso terapéutico , Calidad de Vida/psicología , Adolescente , Niño , Enanismo/diagnóstico , Femenino , Humanos , Masculino , Resultado del Tratamiento , Adulto Joven
11.
Eur J Obstet Gynecol Reprod Biol ; 180: 153-6, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25065344

RESUMEN

OBJECTIVE: Hypothalamic ovarian failure can be considered as a differential diagnosis in women suffering from CAH and amenorrhea. Naltrexone can be used as a tool to exclude hyperandrogenemia as a cause of amenorrhea in that condition. STUDY DESIGN: Five women (ages between 16 and 30 years) with congenital adrenal hyperplasia (CAH) due to C21- hydroxylase deficiency and primary or secondary amenorrhoea were treated with the opiate antagonist naltrexone at a dose of 50mg per day. RESULT: In all patients naltrexone induced normalization of menstrual cycle determined by endocrine parameters and ultrasonography. CONCLUSION: Since naltrexone has been shown to restore normal menstrual cycles in hypothalamic amenorrhea it can be inferred that the cause of amenorrhea in those patients was not of hyperandrogenemic but of hypothalamic origin. Naltrexone may therefore be used to differentiate between hyperandrogenemic and hypothalamic ovarian failure in patients suffering from CAH.


Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Amenorrea/etiología , Hiperandrogenismo/diagnóstico , Enfermedades Hipotalámicas/diagnóstico , Naltrexona , Antagonistas de Narcóticos , Oligomenorrea/etiología , Insuficiencia Ovárica Primaria/etiología , Adolescente , Adulto , Femenino , Humanos , Hiperandrogenismo/complicaciones , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/tratamiento farmacológico , Naltrexona/uso terapéutico , Antagonistas de Narcóticos/uso terapéutico , Adulto Joven
12.
Hautarzt ; 64(12): 904-9, 2013 Dec.
Artículo en Alemán | MEDLINE | ID: mdl-24337305

RESUMEN

The cutaneous radiation syndrome includes all deterministic effects on the skin and visible parts of the mucosa from ionizing radiation. The Intensity and duration of radiation-induced skin symptoms depend on the kind and quality of ionizing radiation. The aim of this study was the investigation of the importance of the time of the development of radiation induced-skin effects on the prognosis of radiation accident victims. Clinical data about radiation accident victims from the database SEARCH were used. 211 cases with good documentation regarding radiation-induced skin effects were selected. From these 211 patients, 166 survived the acute phase of the acute radiation syndrome, while 45 died during the acute phase. Among those patients who did not survive the acute phase, 82.2 % showed their first documented radiation-induced skin symptoms during the first 3 days after radiation exposure. Of those patients whose first documented radiation-induced skin symptoms appeared on or after day four, 94.2 % survived the acute phase. The time to the occurrence of the first radiation-induced skin effects is diagnostically significant. The skin plays an important role in the clinical course of radiation syndromes and in the development of radiation-induced multi-organ failure. In a retrospective data analysis like this, the quality of data might be a limitation.


Asunto(s)
Exposición a Riesgos Ambientales/estadística & datos numéricos , Insuficiencia Multiorgánica/mortalidad , Liberación de Radiactividad Peligrosa/mortalidad , Radiodermatitis/mortalidad , Piel/efectos de la radiación , Sobrevivientes/estadística & datos numéricos , Causalidad , Comorbilidad , Bases de Datos Factuales , Exposición a Riesgos Ambientales/efectos adversos , Alemania/epidemiología , Humanos , Incidencia , Insuficiencia Multiorgánica/etiología , Pronóstico , Radiodermatitis/diagnóstico , Radiodermatitis/etiología , Factores de Riesgo , Tasa de Supervivencia
14.
Pediatr Exerc Sci ; 23(4): 477-86, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22109775

RESUMEN

Over the last years concerns have been raised about the health effects particularly on young climbers due to the observation of short stature with low body weight and body fat in sports climbers. The aim of this study was to investigate anthropometric and hormonal data for climbers of the German Junior national team. 16 climbers were compared with 14-age matched nonclimbers with respect to several anthropometric variables, leptin level, and climbing characteristics. Height, weight and body mass index (BMI) standard deviation scores (SDS) for boys were not significantly different from the controls, whereas girls had significantly lower SDS-values for weight and BMI. In comparison with the control group boys and girls had a lower skinfold thickness. The leptin values were lower than the calculated leptin levels but only reached significance for the girls. The young athletes of the GJNT were neither of short stature nor thin when compared with a physically active control group. The low body fat in boys and girls was within expected limits. The lower leptin levels might be attributed to a decrease in total body fat.


Asunto(s)
Pesos y Medidas Corporales , Ghrelina/sangre , Leptina/sangre , Montañismo/fisiología , Adolescente , Adulto , Estatura , Índice de Masa Corporal , Peso Corporal , Dieta , Femenino , Alemania , Humanos , Masculino , Factores Sexuales , Grosor de los Pliegues Cutáneos , Estadísticas no Paramétricas , Encuestas y Cuestionarios , Adulto Joven
15.
J Clin Endocrinol Metab ; 95(5): 2443-50, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20233785

RESUMEN

CONTEXT: In 21-hydroxylase (CYP21A2) deficiency (21OHD), the level of in vitro enzymatic function allows for classification of mutation groups (null, A, B, C) and prediction of disease severity. However, genital virilization in affected females correlates only weakly with CYP21A2 mutation groups, suggesting the influence of genetic modifiers. OBJECTIVE: The objective of the study was to investigate the influence of the polymorphic CAG and GGn repeats of the androgen receptor (AR) gene on the degree of genital virilization in 21OHD females. DESIGN AND PATIENTS: Design of the study was the determination of CYP21A2 genotype, degree of genital virilization (Prader stage), and X-weighted biallelic mean of AR CAG and GGn repeat length in 205 females with 21OHD. OUTCOME MEASUREMENTS: Correlation of AR CAG and GGn repeat lengths with Prader stages using nested stepwise logistic regression analysis was measured. RESULTS: CYP21A2 mutation groups null and A showed significantly higher levels of genital virilization than groups B and C (P < 0.01). However, Prader stages varied considerably within mutation groups: null, Prader I-V (median IV); A, Prader I-V (median IV); B, Prader I-V (median III); C, 0-III (median I). Mean GGn repeat length of patients was not significantly associated with Prader stages, classified as low (0-I), intermediate (II-III), or severe (IV-V) (odds ratio per repeat: 0.98, 95% confidence interval 0.71-1.35). In contrast, patients with Prader 0-I showed a trend toward longer CAG repeats without reaching statistical significance (P = 0.07, odds ratio per repeat: 0.82, 95% confidence interval 0.65-1.02). CONCLUSION: Neither CAG nor GGn repeat lengths are statistically significant modifiers of genital virilization in females with 21OHD.


Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Receptores Androgénicos/genética , Esteroide 21-Hidroxilasa/genética , Repeticiones de Trinucleótidos/genética , Virilismo/genética , Hiperplasia Suprarrenal Congénita/clasificación , Hiperplasia Suprarrenal Congénita/patología , Alelos , Cartilla de ADN , Femenino , Amplificación de Genes , Genotipo , Humanos , Reacción en Cadena de la Polimerasa , Eliminación de Secuencia , Virilismo/clasificación , Virilismo/patología
16.
Placenta ; 31(3): 178-85, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20045557

RESUMEN

OBJECTIVE: The human placenta as part of the feto-placental unit may influence fetal endocrine systems and may therefore represent a very important link between intrauterine growth restriction (IUGR) and metabolic disorders in later life. We aimed to analyze the effect of sample origin on gene expression of placental factors potentially involved in fetal programming in IUGR versus appropriate for gestational age growth (AGA) to standardize sample collection procedure for a multicenter approach. DESIGN: Placental gene expression of insulin-like growth factor-binding protein (IGFBP)-1, prolactin, corticotropin releasing hormone (CRH) and leptin was measured and compared between proximal, intermediate and peripheral region of the placenta in 22 IUGR (proven by anomalous placental Doppler velocimetry) and 19 AGA neonates. RESULTS: Whereas no difference in gene expression was seen in the proximal portion, in the intermediate placental region mRNA expression of IGFBP-1 (p = 0.01), prolactin (p = 0.04), CRH (p = 0.01) and leptin (p = 0.04) was increased in IUGR samples compared to controls. At the placental periphery, gene expression of these placental transcripts showed a higher expression level in IUGR placentas without statistical significance, except for leptin (p = 0.03). CONCLUSION: Placental sampling site seems to be relevant for detecting differences in gene expression between IUGR and AGA neonates.


Asunto(s)
Hormona Liberadora de Corticotropina/biosíntesis , Retardo del Crecimiento Fetal/genética , Proteína 1 de Unión a Factor de Crecimiento Similar a la Insulina/biosíntesis , Leptina/biosíntesis , Placenta/fisiopatología , Prolactina/biosíntesis , Adulto , Hormona Liberadora de Corticotropina/genética , Femenino , Retardo del Crecimiento Fetal/metabolismo , Humanos , Recién Nacido , Proteína 1 de Unión a Factor de Crecimiento Similar a la Insulina/genética , Leptina/genética , Masculino , Placenta/metabolismo , Embarazo , Prolactina/genética , Estudios Prospectivos , ARN Mensajero/biosíntesis , ARN Mensajero/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Estadísticas no Paramétricas
17.
Dtsch Med Wochenschr ; 134(50): 2551-5, 2009 Dec.
Artículo en Alemán | MEDLINE | ID: mdl-19998224

RESUMEN

BACKGROUND: Discontinuation of growth hormone (GH) treatment upon attainment of final height has been associated with impaired somatic development and altered body composition. Therefore, optimal care of patients with GH deficiency (GHD) in the transition phase from adolescence to adulthood is a challenge for all parties involved. We analyzed the current clinical practice in Germany. METHODS: In 2008, 124 endocrinologists (69 pediatric, 55 adult endocrinologists) in Germany were interviewed using a structured questionnaire. RESULTS: Overall, 67 % of pediatric endocrinologists (PE) and adult endocrinologists (AE) declared to have a contact physician for their patients. 13 endocrinologists declared to have a common transition clinic with their corresponding colleague. 74 % of PE stated to transfer their patients after the end of GH therapy to an AE. 62 % of the patients were transferred at the age of 18 years. 70 % of the PE stated to retest their patients themselves, while 70 % of the AE answered that the patients had not been retested when they first came to the adult clinic. For the evaluation of GH-secretion, PE most frequently used the arginine (86 %), ITT (35 %) and clonidine test (33 %), whereas AE utilized the GHRH/arginine test (71 %), and the ITT (67 %). The level of patient's information about his disease status was considered as "good" by 44 % of AE (77 % by AE having established a transition clinic). The quality of patient files transferred from the PE was considered as "good" by 54 % of all AE (100 % by AE with transition clinic). CONCLUSION: To a significant extent, there is an inconsistence in diagnostic methods and treatment modalities performed by PE and AE compared to recently published consensus guidelines. Only 13 PE interviewed in this study transfer their GHD patients in a transition clinic setting. Communication and transfer of information between both groups appears to be impaired in centres without a transition clinic. In those clinics having established transition clinics, patient's status of information and quality of patient files is considered to be much better.


Asunto(s)
Envejecimiento/fisiología , Hormona de Crecimiento Humana/deficiencia , Hormona de Crecimiento Humana/uso terapéutico , Adolescente , Adulto , Arginina/sangre , Estatura , Niño , Alemania , Hormona Liberadora de Hormona del Crecimiento/sangre , Hormona de Crecimiento Humana/metabolismo , Humanos , Sistema Hipotálamo-Hipofisario/fisiología , Sistema Hipotálamo-Hipofisario/fisiopatología , Relaciones Médico-Paciente
18.
Internist (Berl) ; 50(10): 1202, 1204, 1206 passim, 2009 Oct.
Artículo en Alemán | MEDLINE | ID: mdl-19707731

RESUMEN

Children with chronically endocrine diseases should be treated as young adults by adult endocrinologists. To optimize the transfer from the pediatric to adult endocrinologist, the model of a common transition clinic has been developed. Within this setting it should be possible to exchange experiences, extend the knowledge and understanding of the disease with the other side, and to provide for the patient an optimal outpatient care. This model, however, has only been sporadically realized to date. To set an example for the problems of the transition into adult endocrinology, we used two different endocrine diseases, the classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency, and the childhood-onset growth hormone deficiency. Specific problems for this transfer to adult care are the fixation of the patients to their pediatricians and the lack of comprehension in the need of a long term and continuous therapy. The consequence is a dramatic impairment in the quality of the therapy.


Asunto(s)
Servicios de Salud del Adolescente/tendencias , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/terapia , Atención a la Salud/tendencias , Transición de la Salud , Medicina Interna/tendencias , Síndrome de Laron/diagnóstico , Síndrome de Laron/terapia , Adolescente , Adulto , Alemania , Necesidades y Demandas de Servicios de Salud/tendencias , Humanos , Pediatría/tendencias , Adulto Joven
19.
J Endocrinol Invest ; 32(4): 294-7, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19636193

RESUMEN

INTRODUCTION: Irradiation of brain tumors (BT) in children can lead to the loss of pituitary function, predominantly manifesting as deficiencies in GH and ACTH. OBJECTIVE: To assess the incidence and nature of pituitary deficiency in relation to initial tumor location in children after radiotherapy of BT. METHODS: Twenty survivors (16 males and 4 females) of radiation-treated BT aged 1.4-10.9 (median 3.6) yr at diagnosis were studied, 10 with supratentorial and 10 with infratentorial BT. Radiation doses to the hypothalamus- pituitary (HP) area ranged from 30 to 54 (median 45) Gray. Follow-up was 9.4-16.9 (median 12.2) yr. Basal pituitary hormone levels were measured every 6 months. When growth failure became evident or pituitary deficiency was suspected, provocation tests of the HP axis were performed to assess GH, ACTH, and TSH function. RESULTS: GH deficiency (GHD) developed in 17/20 (85%) children. In 10 patients, it occurred 4 yr after radiotherapy and in 2, 11 and 12 yr after radiotherapy. Six (30%) patients developed secondary hypothyroidism and 4 (20%) developed ACTH deficiency. Precocious puberty occurred in 2 girls. The course of development and the severity of hormone deficiencies were similar for supratentorial and infratentorial tumors. CONCLUSION: The major hormonal effect of BT irradiation in children is GHD, which may sometimes take more than 10 yr to manifest. We confirm findings by others that ACTH insufficiency occurs less frequently in children than reported for adults. Tumor location has no prognostic significance regarding the loss of HP function.


Asunto(s)
Hormona Adrenocorticotrópica/deficiencia , Neoplasias Encefálicas/radioterapia , Irradiación Craneana , Hormona de Crecimiento Humana/deficiencia , Hipófisis/efectos de la radiación , Traumatismos por Radiación/etiología , Hormona Adrenocorticotrópica/metabolismo , Niño , Preescolar , Femenino , Hormona de Crecimiento Humana/metabolismo , Humanos , Hipotálamo/efectos de la radiación , Hipotiroidismo/etiología , Lactante , Masculino , Hipófisis/metabolismo , Traumatismos por Radiación/metabolismo , Estudios Retrospectivos
20.
Exp Clin Endocrinol Diabetes ; 117(1): 28-33, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18523927

RESUMEN

BACKGROUND: Infantile hypophosphatasia (IH) is an inherited disorder characterized by defective bone mineralization and a deficiency of alkaline phosphatase activity. OBJECTIVE/DESIGN: The aim of the study was to evaluate a new compound heterozygous TNSALP mutation for its residual enzyme activity and localization of the comprised amino acid residues in a 3D-modeling. PATIENT: We report on a 4-week old girl with craniotabes, severe defects of ossification, and failure to thrive. Typical clinical features as low serum alkaline phosphatase, high serum calcium concentration, increased urinary calcium excretion, and nephrocalcinosis were observed. Vitamin D was withdrawn and the patient was started on calcitonin and hydrochlorothiazide. Nonetheless, the girl died at the age of 5 months from respiratory failure. RESULTS: Sequence analysis of the patient's TNSALP gene revealed two heterozygous mutations [c.653T>C (I201T), c.1171C>T (R374C)]. Transfection studies of the unique I201T variant in COS-7 cells yielded a mutant TNSALP protein with only a residual enzyme activity (3.7%) compared with wild-type, whereas the R374C variant was previously shown to reduce normal activity to 10.3%. 3D-modeling of the mutated enzyme showed that I201T resides in a region that does not belong to any known functional site. CONCLUSION: We note that I201, which has been conserved during evolution, is buried in a hydrophobic pocket and, therefore, the I>T-change should affect its functional properties. Residue R374C is located in the interface between monomers and it has been previously suggested that this mutation affects dimerization. These findings explain the patient's clinical picture and severe course.


Asunto(s)
Fosfatasa Alcalina/genética , Hipofosfatasia/genética , Mutación , Fosfatasa Alcalina/deficiencia , Animales , Células COS , Chlorocebus aethiops , ADN/sangre , ADN/genética , Exones , Femenino , Heterocigoto , Humanos , Recién Nacido , Isoenzimas/genética , Reacción en Cadena de la Polimerasa
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