Kernkraftwerk Gundremmingen

Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.-11C>T change upstream of the gene's normal ATG initiation codon of ANKH in a family of southern Italian descent; we correlate the phenotype with known epilepsy syndromes and provide the first evidence of recurrence of this particular ANKH variant. Phenotyping and genotyping (short-read exome/genome sequencing) was performed on six members of a family with self-limited familial infantile epilepsy (SeLFIE). We describe a family with six individuals who presented with infantile onset epilepsy. All affected family members experienced focal and/or bilateral tonic-clonic seizures, sometimes triggered by fever or infection, with seizure onset predominantly before the age of 2 years. Patients responded well to antiseizure medication, and seizures resolved completely before the age of 4 years. Short-read genome/exome sequencing and comparative bioinformatic analysis of the variants of five affected individuals and one unaffected individual revealed ANKH c.-11C>T as the causative pathogenic variant in this family, segregating with the disease. To our knowledge, we report the second family with autosomal dominant epilepsy caused by an ANKH c.-11C>T variant. The pediatric phenotype closely resembles that of the previously reported British family, suggesting low phenotypic heterogeneity, and aligns with SeLFIE. ANKH-associated epilepsy should be considered in SeLFIE, especially in cases with a family history of chondrocalcinosis or recurrent acute joint pain episodes.

BackgroundDepression is reported in up to 90% of cancer patients but to this date, a standardized screening tool for depression specifically modified for patients diagnosed with brain tumors is lacking. Thus, this study aims to develop an adapted screening tool and identify a suitable time slot for screening.MethodsSixty-one patients with brain lesions were interviewed prior to neurosurgical resection. For screening purposes, established depression scores were used. A study-specific questionnaire (SSQ) was developed based on patient interviews prior to the trial. Two subgroups were analyzed: patients with benign and patients with malignant tumors (including brain metastases). As a subgroup within malignant lesions, patients with glioblastoma (GBM) were also analyzed separately.ResultsOf patients, 87.5% with GBM presented with results > 16 points on the Center for Epidemiologic Studies Depression Scale (CES-D) after surgery. A decline in patients with benign brain tumors (p = 0.0058) and an increase in patients with malignant tumors (p = 0.0491) could be shown over time for CES-D scores. In this study, we established a new prototype screening tool for depression. In patients diagnosed with GBM, the number of patients needed to screen for identification of symptoms of depression was 1.59. Best time for screening was 35 days after surgery.ConclusionsConsidering the high prevalence and low number needed to screen of depression in patients diagnosed with GBM, we strongly encourage their routine screening during follow-up appointments (35 days after surgery). We encourage a plan to further establish the questionnaire developed in this pilot study.

PurposeThis study examined the pattern of psychosocial care in breast cancer survivors.MethodsIn a prospective study with measurements before surgery, 1 month, 8 months, and 5 years thereafter, we examined the proportion of breast cancer survivors who were aware about, had been offered and received various types of psychosocial services from psychologists, social workers, doctors, self-help groups etc. The degree of helpfulness per service among users was ascertained with Likert scales. Determinants of awareness, offer and use were investigated using binary logistic regression analyses. How the services are inter-related was tested with principal component analyses.ResultsAmong 456 breast cancer survivors who participated until 5 years, psychological services were known by 91%, offered to 68%, and used by 55% of patients. Social services were known by 86%, offered to 65%, and used by 51%. Women ≥ 65 years were less likely to be informed about (odds ratio (OR) 0.2) and get offers for psychosocial services (OR 0.4 for social and 0.5 for psychological services) than women < 65 years. The services rated most helpful were social services in the hospital, psychological counselling by a consultant and psychotherapy in private practices.ConclusionThese findings underline the importance of psychosocial support by physicians in addition to the "professional" mental health and social care providers. They also show that elderly women in need for support might be in danger of not being well-informed about the services available.

AimsNumerous reports have addressed the feasibility and safety of robotic-assisted (RALF) and conventional laparoscopic fundoplication (CLF). Long-term follow-up after direct comparison of these two minimally invasive approaches is scarce. The aim of the present study was to assess long-term disease-specific symptoms and quality of life (QOL) in patients with gastroesophageal reflux disease (GERD) treated with RALF or CLF after 12 years in the randomized ROLAF trial.MethodsIn the ROLAF trial 40 patients with GERD were randomized to RALF (n = 20) or CLF (n = 20) between August 2004 and December 2005. At 12 years after surgery, all patients were invited to complete the standardized Gastrointestinal Symptom Rating Scale (GSRS) and the Quality of Life in Reflux and Dyspepsia questionnaire (QOLRAD). Failure of treatment was assessed according to Lundell score.ResultsThe GSRS score was similar for RALF (n = 15) and CLF (n = 15) at 12 years´ follow-up (2.1 ± 0.7 vs. 2.2 ± 1.3, p = 0.740). There was no difference in QOLRAD score (RALF 6.4 ± 1.2; CLF 6.4 ± 1.5, p = 0.656) and the QOLRAD score sub items. Long-term failure of treatment according to the definition by Lundell was not different between RALF and CLF [46% (6/13) vs. 33% (4/12), p = 0.806].ConclusionIn accordance with previous short-term outcome studies, the long-term results 12 years after surgery showed no difference between RALF and CLF regarding postoperative symptoms, QOL and failure of treatment. Relief of symptoms and patient satisfaction were high after both procedures on the long-term. Registration number: DRKS00014690 (https://www.drks.de).

According to the World Health Organization, approximately 810 pregnant women die every day as a consequence of peripartum complications. A large proportion of deaths happen in developing countries. Peripartum cardiac arrest is a rare event that must be treated immediately. It is important to consider the differential diagnoses in order to save lives. In this review, we discuss a differential diagnosis of cardiac arrest according to the BEAU-CHOPS scheme of the American Heart Association in the relation to the case report of our 40-year-old G5/P3 patient who went into cardiac arrest during cesarean delivery. Typical differentials for cardiac arrest during labor are bleeding, embolism, anesthetic complications, cardiovascular diseases, eclampsia, and sepsis. All of them were considered and ruled out in this patient. In the end, we suspect that physiological cardio-inhibitory reflexes triggered by sudden profound hypovolemia after placental separation along with the patient's risk factors, especially obesity and maternal age, and the administration of spinal anesthesia all potentially contributed to the cardiac arrest. This review highlights that the cardiac arrest during labor can be triggered by the multifactorial etiology, but firstly the typical differential diagnosis needs to be excluded.

ZusammenfassungAnogenitale und oropharyngeale Infektionen mit humanen Papillomviren (HPV) sind weit verbreitet. Im Fall einer klinisch manifesten Erkrankung ist die HPV‐Infektion mitunter mit erheblichen Auswirkungen auf die Lebensqualität assoziiert, die Behandlung geht mit einer hohen Rezidivrate einher und invasive Neoplasien (zum Beispiel Zervix‐, Anal‐, Vulva‐, Penis‐, Oropharynxkarzinom) sind zudem durch eine signifikante Morbidität und Mortalität gekennzeichnet. Die Impfung gegen HPV ist eine effektive und sichere Maßnahme zur Primärprävention HPV‐assoziierter Läsionen, allerdings sind die HPV‐Impfraten in Deutschland nach wie vor niedrig. Die vorliegende Publikation ist eine gekürzte Fassung der auf den Seiten der AWMF verfügbaren Langfassung der evidenz‐ und konsensbasierten Leitlinie „Impfprävention HPV‐assoziierter Neoplasien“. Auf der Grundlage eines systematischen Reviews mit Metaanalysen wurden von einem repräsentativen Gremium erstellte und formell konsentierte Empfehlungen zur Vakzinierung verschiedener Alters‐ und Personengruppen erarbeitet. Darüber hinaus wurden konsensbasierte Empfehlungen zu spezifischen, im Praxisalltag relevanten Fragestellungen bezüglich besonderer Situationen erstellt. Diese sollen in einem Themenfeld, in dem vielfach Unsicherheiten bestehen und sowohl Patientinnen und Patienten als auch Gesundheitsdienstleisterinnen und ‐dienstleister teils mit kontroversen und emotional aufgeladenen Standpunkten konfrontiert sind, auf Grundlage der aktuell vorliegenden Studienlage und eines repräsentativen Expertenkonsenses Orientierung und Sicherheit bieten.

PurposePeople with a severe mental illness (SMI) are at particular risk of occupational exclusion. Among the approaches to occupational rehabilitation, supported employment (SE) has been proven to be the most effective. A requirement to enter SE-programs is that individuals must want to seek competitive employment. The aim of this work is to investigate the relationship between serious mental illness and the desire to work including potential predictors.MethodsThis is a cross-sectional observational study of patients with SMI aged 18–65 years (n = 397). Patients were interviewed by trained staff using standardised instruments. The relationship between potential predictors and a strong preference for employment were analysed using a hierarchic binary logistic regression model.ResultsOnly about one-quarter (27.9%) of SMI patients is in competitive employment. Another quarter is unemployed (25.9%). Results show that the desire for competitive employment is strong among more than half of the SMI patients. Among the unemployed, two-thirds express a strong desire for work. These individuals are an ideal target group for SE interventions. Comorbid chronic physical illness, diagnosis, and the subjectively judged ability to work are associated with the desire for work.ConclusionOur data confirm a substantial exclusion of individuals with SMI from the workforce. In general, care needs for workplace interventions are not being met and leave much room for improvement. In addition to employment status, the desire for work should be routinely assessed.Study registrationThe study was registered in the German Clinical Trials Register (DRKS) (https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_ID=DRKS00015801) and under the WHO-Platform “International Clinical Trials Registry Platform” (ICTRP) (https://apps.who.int/trialsearch/Trial2.aspx?TrialID=DRKS00015801) under the registration number DRKS00015801 before the start of recruitment (Registration date: 21.02.2019).