85 research outputs found
Parental risk factors and anorectal malformations: systematic review and meta-analysis
<p>Abstract</p> <p>Background</p> <p>Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors.</p> <p>Methods</p> <p>Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Library databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals) were determined to quantify associations of maternal and paternal smoking, maternal alcohol consumption, underweight (body mass index [BMI] < 18.5), overweight (BMI 25-29.9), obesity (BMI â„30) and maternal diabetes mellitus with ARM using meta-analyses.</p> <p>Results</p> <p>22 studies that reported on the association between prenatal environmental risk factors and infants born with ARM were included in this review. These were conducted in the United States of America (n = 12), Spain (n = 2), Sweden (n = 2), the Netherlands (n = 2), Japan (n = 1), France (n = 1), Germany (n = 1) and Hungary (n = 1). However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, control types and adjustment for covariates. Consistently increased risks were observed for paternal smoking and maternal overweight, obesity and diabetes, but not for maternal smoking and alcohol consumption. In meta-analyses, pooled odds ratios (95% confidence intervals) for paternal smoking, maternal overweight, obesity, pre-gestational and gestational diabetes were 1.53 (1.04-2.26), 1.25 (1.07-1.47), 1.64 (1.35-2.00), 4.51 (2.55-7.97) and 1.81 (1.23-2.65), respectively.</p> <p>Conclusion</p> <p>Evidence on risk factors for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate paternal smoking and maternal overweight, obesity and diabetes to be associated with increased risks. Further, ideally large-scale multicentre and register-based studies are needed to clarify the role of key risk factors for the development of ARM.</p
Aversive tension in female adolescents with Anorexia Nervosa : a controlled ecological momentary assessment using smartphones
BACKGROUND: Current models of Anorexia Nervosa (AN) emphasize the role of emotion regulation. Aversive tension, described as a state of intense arousal and negative valence, is considered to be a link between emotional events and disordered eating. Recent research focused only on adult patients, and mainly general emotion regulation traits were studied. However, the momentary occurrence of aversive tension, particularly in adolescents with AN, has not been previously studied.
METHOD: 20 female adolescents with AN in outpatient treatment and 20 healthy adolescents aged 12 to 19years participated in an ecological momentary assessment using their smartphones. Current states of aversive tension and events were assessed hourly for two consecutive weekdays. Mean and maximum values of aversive tension were compared. Multilevel analyses were computed to test the influence of time and reported events on aversive tension. The effect of reported events on subsequent changes of aversive tension in patients with AN were additionally tested in a multilevel model.
RESULTS: AN patients showed higher mean and maximum levels of aversive tension. In a multilevel model, reported food intake was associated with higher levels of aversive tension in the AN group, whereas reported school or sport-related events were not linked to specific states of aversive tension. After food intake, subsequent increases of aversive tension were diminished and decreases of aversive tension were induced in adolescents with AN.
CONCLUSIONS: Aversive tension may play a substantial role in the psychopathology of AN, particular in relation with food intake. Therefore, treatment should consider aversive tension as a possible intervening variable during refeeding. Our findings encourage further research on aversive tension and its link to disordered eating.
TRIAL REGISTRATION: German register of clinical trials (DRKS): DRKS00005228 (Date of registration: September 2, 2013)
A Prevalence Estimation of Exstrophy and Epispadias in Germany From Public Health Insurance Data
Introduction: The prevalence of rare diseases is very important for health care research. According to the European Surveillance of Congenital Anomalies (EUROCAT) registers, the live prevalence for exstrophy and/or epispadias (grades 1â3) is reported with 1:23,255 (95% CI: 1:26,316; 1:20,000). A Europe-wide prevalence evaluation based on reports from excellence centers estimates a prevalence for exstrophies of 1:32,200 and for isolated epispadias of 1:96,800 in 2010. However, the frequency of exstrophy [International Statistical Classification of Diseases and Related Health Problems revision 10 (ICD-10): Q64.1] and epispadias (ICD-10: Q64.0) treated in different age groups in Germany remains unclear.
Material and Method: Public health insurance data from 71 million people (approximately 87% of the population) were provided by the German Institute for Medical Documentation and Information (DIMDI) in accordance to the German Social Insurance Code for this research purpose. DIMDI analyzed the data source for the ICD diagnoses exstrophy and epispadias between 2009 and 2011. As provided data were robust over the years, averaged data are mentioned. Detailed subgroup analysis of small numbers was forbidden due to privacy protection.
Results: Annually, 126 persons of all ages with epispadias and 244 with exstrophy are treated as inpatients. In the observed population, 34 infants (<1 year of age) with epispadias and 19 with exstrophy (58% male) are treated as outpatients each year. This corresponds to an estimated live prevalence of 1:11,000 (95% CI: 1:14,700; 1:8,400) for EEC (exstrophyâepispadias complex), more specifically a prevalence of 1:17,142 for epispadias and of 1:30,675 for exstrophy. The male-to-female ratio for exstrophy is 1.4:1 for infants and 1.6:1 for all minors. In children and adolescents, 349 epispadias and 393 exstrophies (up to the age of 17) are treated annually, whereas adults with exstrophy and even more with epispadias make comparatively less use of medical care.
Conclusion: With the help of DIMDI data, the live prevalence of bladder exstrophy and epispadias in Germany could be estimated. The prevalence of epispadias was higher than in previous reports, in which milder epispadias phenotypes (grade 1 or 2) may not have been included. These analyses might enlighten knowledge about nationwide incidence and treatment numbers of rare diseases such as the EEC
Oral anticoagulants - a frequent challenge for the emergency management of acute ischemic stroke
Background: The emergency management of patients with acute ischemic stroke (IS) using oral anticoagulants (OAC) represents a great challenge. Effective anticoagulation predisposes to bleeding and represents a contraindication for systemic thrombolysis. However, patients on OAC can receive intravenous thrombolysis with recombinant tissue-type plasminogen activator if the international normalized ratio (INR) does not exceed 1.7, but data regarding the risk of hemorrhagic complications are highly controversial. Neurointerventional recanalization of intracranial artery occlusion represents an alternative option in OAC patients with acute IS. The proportion of OAC users among consecutive patients who suffer from acute IS or transient ichemic attacks (TIA) is unknown. Methods: A prospective observational study, consecutively enrolling all patients with IS or TIA admitted to our neurological emergency room (ER), was performed between August 2009 and February 2011. Basic demographic variables, present use of OAC, severity of stroke, cardiovascular risk factors, INR values and the symptom onset to presentation time were recorded. In IS patients on OAC presenting within 4.5 h after symptom onset, management was analyzed. In thrombolysed IS patients, bleeding events were documented. Outcome was assessed after 3 months
Educating Parents about Fever in Childhood Evaluation of the Effect of an Information Leaflet
Hintergrund: Fieber gilt als wichtige Abwehrreaktion des Körpers bei Infekten und spielt im Kindesalter eine groĂe Rolle. Unter Eltern sind immer noch Angst und Unsicherheit im Umgang mit Fieber weit verbreitet. Als AufklĂ€rungsinstrument fĂŒr Eltern können InformationsbroschĂŒren zum Wissen und Umgang mit Fieber im Kindesalter dienen. Es wurde bisher noch nicht untersucht, ob diese Art der Informationsvermittlung ein geeignetes Werkzeug zur AufklĂ€rung von Eltern darstellt.
Methode: 16 Krippen und KindergĂ€rten im Saarland wurden aufgesucht. 481 Elternteile von mindestens einem Kind zwischen 1 und 7 Jahren beantworteten einen Fragebogen zu Wissen, Umgang und Vorgehen bei Fieber im Rahmen von Infekten. Im Anschluss wurde eine InformationsbroschĂŒre zu Fieber ausgehĂ€ndigt. Am Folgetag wurde der Fragebogen erneut von denjenigen 190 Eltern beantwortet, welche die InformationsbroschĂŒre gelesen hatten. Die Ănderung durch LektĂŒre der InformationsbroschĂŒre wurde analysiert.
Ergebnisse: 40% der Teilnehmenden lasen die InformationsbroschĂŒre. An der Nacherhebung nahmen 87% MĂŒtter und 13% VĂ€ter teil. 10% der Nachbefragten hatten Hauptschulabschluss und 34% einen UniversitĂ€tsabschluss. Nach der LektĂŒre wurde Fieber signifikant hĂ€ufiger als nĂŒtzlich angesehen und als Grund fĂŒr eine Fiebersenkung wurden signifikant seltener FieberkrĂ€mpfe und FolgeschĂ€den genannt.
Schlussfolgerung: InformationsbroschĂŒren zu Fieber können ein ergĂ€nzendes Werkzeug zur AufklĂ€rung darstellen, die kurzfristige Wirkung wird bestĂ€tigt, die Nachhaltigkeit muss weiter evaluiert werden. Es besteht zudem die Notwendigkeit die Mehrheit zu erreichen.Fever is an important immune reaction of the body in infections and plays a major role in childhood. Fear and uncertainty in dealing with fever are still widespread among parents. Information leaflets on the knowledge and handling of fever in childhood can serve as an educational tool for parents. It has not yet been investigated whether this type of information transfer is a suitable tool for educating parents
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Background: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM.
Results: Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%).
Conclusions: Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies
Adverse Events Following International Normalized Ratio Reversal in Intracerebral Hemorrhage
Background: Prothrombin complex concentrates (PCCs) are frequently used to reverse the effect of vitamin Kantagonists (VKAs) in patients with non-traumatic intracerebral hemorrhage (ICH). However, information on the rate of thromboembolic events (TEs) and allergic events after PCC therapy in VKA-ICH patients is limited.
Methods: Consecutive VKA-ICH patients treated with PCC at our institution between December 2004 and June 2014 were included into this retrospective observational study. We recorded international normalized ratio (INR) values before and after PCC treatment, baseline clinical characteristics including the premorbid modified Rankin Scale (pmRS) score, TE and allergic event that occurred during the hospital stay. All events were classified by 3 reviewers as being ârelatedâ, âprobably relatedâ, âpossibly relatedâ, âunlikely relatedâ or ânot relatedâ to treatment with PCC. To identify factors associated with TEs, logrank analyses were applied.
Results: Two hundred and five patients were included. Median INR was 2.8 (interquartile range (IQR) 2.2â3.8) before and 1.3 (IQR 1.2â1.4) after PCC treatment and a median of 1,500 IU PCC (IQR 1,000â2,500) was administered. Nineteen TEs were observed (9.3%); none were classified ârelatedâ but 9 were classified as âpossiblyâ or âprobably relatedâ to PCC infusion (4.4%). One allergic reaction (0.5%), âunlikely relatedâ to PCC, was observed. In the whole cohort, PCC doses >2,000â3,000 IU, ICH volumes >40 ml, National Institute of Health Stroke Scale values >10 and a pmRS >2 were associated with the development of TEs (p = 0.031, p = 0.034, p = 0.050 and p = 0.036, respectively).
Conclusions: Overall, INR reversal with PCC appears safe. Though no clear relationship between higher PCC dosing and TEs was observed, PCC doses between >2,000 and 3,000 IU and higher morbidity at ICH onset were associated with TEs. Hence, individual titration of PCC to avoid exposure to unnecessarily high doses using point-of-care devices should be prospectively explored
Treatment Strategies and Outcome of the ExstrophyâEpispadias Complex in Germany: Data From the German CURE-Net
Introduction: To evaluate the impact of reconstructive strategies and post-operative management on short- and long-term surgical outcome and complications of classical bladder exstrophy (CBE) patients' comprehensive data of the multicenter German-wide Network for Congenital Uro-Rectal malformations (CURE-Net) were analyzed.
Methods: Descriptive analyses were performed between 34 prospectively collected CBE patients born since 2009, median 3 months old [interquartile range (IQR), 2â4 months], and 113 cross-sectional patients, median 12 years old (IQR, 6â21 years).
Results: The majority of included individuals were males (67%). Sixty-eight percent of the prospectively observed and 53% of the cross-sectional patients were reconstructed using a staged approach (p = 0.17). Although prospectively observed patients were operated on at a younger age, the post-operative management did not significantly change in the years before and after 2009. Solely, in prospectively observed patients, peridural catheters were used significantly more often (p = 0.017). Blood transfusions were significantly more frequent in males (p = 0.002). Only half of all CBE individuals underwent inguinal hernia repair. Cross-sectional patients after single-stage reconstructions showed more direct post-operative complications such as upper urinary tract dilatations (p = 0.0021) or urinary tract infections (p = 0.023), but not more frequent renal function impairment compared to patients after the staged approach (p = 0.42). Continence outcomes were not significantly different between the concepts (p = 0.51). Self-reported continence data showed that the majority of the included CBE patients was intermittent or continuous incontinent. Furthermore, subsequent consecutive augmentations and catheterizable stomata did not significantly differ between the two operative approaches. Urinary diversions were only reported after the staged concept.
Conclusions: In this German multicenter study, a trend toward the staged concept was observed. While single-stage approaches tended to have initially more complications such as renal dilatation or urinary tract infections, additional surgery such as augmentations and stomata appeared to be similar after staged and single-stage reconstructions in the long term
Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey
Aim: Male patients with anorectal malformations (ARM) are classified according to
presence and level of the recto-urinary fistula. This is traditionally established by a
preoperative high-pressure distal colostogram that may be variably interpreted by
different surgeons. The aim of this study was to evaluate the inter- and intraobserver
variation in the assessment by pediatric surgeons of preoperative colostograms with
respect to the level of the recto-urinary fistula.
Materials and Methods: Sixteen pediatric surgeons from 14 European centers
belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms
taken in sagittal projection at a median age of 66 days of life (range: 4â1,106 days).
Surgeons were asked to classify the fistula in bulbar, prostatic, bladder-neck, no
fistula, and âunclear anatomyâ example. Their assessments were compared with the
intraoperative findings (kappa) for two scoring rounds with an interval of 6 months
(intraobserver variation). Agreement among the surgeonsâ scores (interobserver variation)
was also calculated using Krippendorffâs alpha. A kappa over 0.75 is considered
excellent, between 0.40 and 0.75 fair to good, and below 0.40 poor. Surgeons were
asked to score the images in âpoorâ and âgoodâ quality and to provide their years of
experience in ARM treatment.
Results: Agreement between the image-based rating of surgeons and the intraoperative
findings ranges from 0.06 to 0.45 (mean 0.31). Interobserver variation is higher
(Krippendorffâs alpha between 0.40 and 0.45). Years of experience in ARM treatment
does not seem to influence the scoring. The mean intraobserver variation between
the two rounds is 0.64. Overall, the quality of the images is considered poor. Images
categorized as having a good quality result in a statistically significant higher kappa
(mean: 0.36 and 0.37 in the first and second round, respectively) than in the group of
bad-quality images (mean: 0.25 and 0.23, respectively).
Conclusions: There is poor agreement among experienced pediatric colorectal
surgeons on preoperative colostograms. Techniques and analyses of images need to be
improved in order to generate a homogeneous series of patients and make comparison
of outcomes reliable
Seasonal variation of BMI at admission in German adolescents with anorexia nervosa
Objective
Recent preliminary studies indicated a seasonal association of BMI at admission to inpatient treatment for anorexia nervosa (AN), indicating lower BMI in the cold season for restrictive AN. An impaired thermoregulation was proposed as the causal factor, based on findings in animal models of AN. However, findings regarding seasonality of BMI and physical activity levels in the general population indicate lower BMI and higher physical activity in summer than in winter. Therefore, we aimed to thoroughly replicate the findings regarding seasonality of BMI at admission in patients with AN in this study.
Method
AN subtype, age- and gender-standardized BMI scores (BMI-SDS) at admission, mean daily sunshine duration and ambient temperature at the residency of 304 adolescent inpatients with AN of the multi-center German AN registry were analyzed.
Results
A main effect of DSM-5 AN subtype was found (F(2,298) = 6.630, p = .002), indicating differences in BMI-SDS at admission between restrictive, binge/purge and subclinical AN. No main effect of season on BMI-SDS at admission was found (F(1,298) = 4.723, p = .025), but an interaction effect of DSM-5 subtype and season was obtained (F(2,298) = 6.625, p = .001). Post-hoc group analyses revealed a lower BMI-SDS in the warm season for restrictive AN with a non-significant small effect size (t(203.16) = 2.140, p = .033; HedgesâČg = 0.28). Small correlations of mean ambient temperature (r = â.16) and daily sunshine duration (r = â.22) with BMI-SDS in restrictive AN were found. However, the data were widely scattered.
Conclusions
Our findings are contrary to previous studies and question the thermoregulatory hypothesis, indicating that seasonality in AN is more complex and might be subject to other biological or psychological factors, for example physical activity or body dissatisfaction. Our results indicate only a small clinical relevance of seasonal associations of BMI-SDS merely at admission. Longitudinal studies investigating within-subject seasonal changes might be more promising to assess seasonality in AN and of higher clinical relevance
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