Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.

Objective: This study aimed to measure health-related quality of life (HRQOL) in children and adolescents with tuberous sclerosis complex (TSC) and quality of life (QOL) and depressive symptoms among caregivers.

Methods: Adequate metrics were used to assess HRQOL in children and adolescents with TSC (4-18 years, KINDL) as well as QOL (EQ-5D) and symptoms of depression (BDI-II) among caregivers. Predictors for reduced HRQOL and depressive symptoms were identified by variance analysis, ordinal regression, and bivariate correlation.

Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.

Background: The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) represents the first disease-modifying treatment option available for this rare and complex genetic disorder.

Objective: The objective of this study was to analyse the use, efficacy, tolerability and treatment retention of EVE in patients with TSC in Germany from the patient's perspective.

Methods: A structured cross-age survey was conducted at 26 specialised TSC centres in Germany and by the German TSC patient advocacy group between February and July 2019, enrolling children, adolescents and adult patients with TSC.

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.

Background: Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associated with various organ manifestations in TSC patients.

Methods: A validated, three-month, retrospective questionnaire was administered to assess the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket, and nursing care-level costs, completed by caregivers of patients with TSC throughout Germany.

Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.

Objective: Seizures are a primary and early disease manifestation of Tuberous Sclerosis Complex (TSC). We aimed to describe the age-stratified patterns of antiseizure drug (ASD) treatments among children, adolescents, and adults with TSC in Germany. Additionally, we reviewed real-world and clinical study evidence regarding ASD utilization in patients with TSC.

Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.

Objective: The aim of this study was to describe the treatment pattern of patients with Dravet syndrome (DS) in Germany with routine antiepileptic drugs (AEDs) and emergency medication, and to review the literature of real-world evidence on medicine utilization of patients with DS in Europe.

Methods: Patient use of routine AEDs and emergency medications over 3-6 months was analyzed from a 2018 multicenter survey of 93 caregivers of patients with DS throughout Germany. Results were contextualized in a review of real-world evidence on medicine utilization of patients with DS in Europe.

A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.

Objective: To compare direct and indirect costs and quality of life (QoL) of pediatric and adult patients with Dravet syndrome (DS), with drug-resistant epilepsy (DRE) and in seizure remission (SR), and their caregivers, in Germany.

Methods: Questionnaire responses from 93 DS patients and their caregivers were matched by age and gender with responses from 93 DRE and 93 SR patients collected in independent studies, and were compared across main components of QoL, direct costs (patient visits, medication use, care level, medical equipment, and ancillary treatments), and indirect costs (quitting job, reduced working hours, missed days).

Results: Mean total direct costs were highest for DS patients (€4864 [median €3564] vs €3049 [median €1506] for DRE [excluding outliers], P = 0.

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.

Introduction: Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. This study estimated cost, cost-driving factors and quality of life (QoL) in patients with Dravet syndrome and their caregivers in a prospective, multicenter study in Germany.

Methods: A validated 3-12-month retrospective questionnaire and a prospective 3-month diary assessing clinical characteristics, QoL, and direct, indirect and out-of-pocket (OOP) costs were administered to caregivers of patients with DS throughout Germany.

Autoantibodies to neuronal antigens in children with focal epilepsy and no prima facie signs of encephalitis.

Objective: There is increasing awareness of neuronal autoantibodies and their impact on the pathogenesis of epilepsy. We investigated children with focal epilepsy in order to provide an estimate of autoantibody frequency within a pediatric population without prima facie evidence of encephalitis using a broad panel of autoantibodies. This was done to assess the specificity of antibodies and to see whether antibodies might be of modifying influence on the course of focal epilepsies.

Antiepileptic drugs and bone metabolism in children: data from 128 patients.

There are conflicting results concerning bone metabolism in children receiving antiepileptic medication, with data concentrating on neurologically impaired patients. We performed a multicenter cross-sectional study in otherwise healthy children who received monotherapy with valproic acid, oxcarbazepine, lamotrigine, sulthiame, levetiracetam, or topiramate for at least 6 months. Data on calcium, phosphorus, alkaline phosphatase, 25-OH vitamin D, and parathormone were collected.

[The role of the pathologist in mammography screening].

Within the framework of mammography screening programmes the expertise of the pathologist is embedded in an interdisciplinary diagnostic and therapeutic procedure. The quality of histopathological diagnosis not only depends on the expertise of the pathologist, but also requires skillful co-operation with the radiologist and the gynecologist who are both responsible for determining the medical indications for further radiographic and surgical tests and must ensure appropriate tissue samples are taken for non-palpable lesions. Bearing this process in mind it becomes clear that increased expertise in interventional tissue sampling leads to histological samples which are more representative.

Electroencephalographic evolution of hypsarrhythmia: toward an early treatment option.

Purpose: A retrospective study for a classification of prehypsarrhythmic elecroencephalographies (EEGs) was carried out to enable an early treatment option for West syndrome.

Methods: Out of 39 infants with symptomatic West syndrome, 18 infants (age 3-14 months) with 61 serial non-REM sleep EEG records of the prehypsarrhythmic phase were identified. The prehypsarrhythmic phase encompassed 2 to 13 months (mean 4.

Valproic acid-induced pancreatitis: 16 new cases and a review of the literature.

Background: Acute pancreatitis is rarely seen in children, and, in contrast to cases in adults, it is often drug induced. One possible medication is the antiepileptic drug valproic acid (VPA), which is commonly prescribed for generalized and focal epilepsy, migraine, neuropathic pain, and bipolar disorder. The common side effects associated with VPA are typically benign, but less common but more serious adverse effects may occur.

famoses: a modular educational program for children with epilepsy and their parents.

Background: It is known that most adult patients with epilepsy often have poor knowledge of their disorder, treatment options, and social and vocational consequences, despite the huge amount of information available. Being pressed for time, health care professionals often are not able to provide the repetitive counseling and instruction necessary to address epilepsy care adequately. Therefore educational programs are considered extremely important in filling the gap.

Levetiracetam in children with refractory epilepsy: a multicenter open label study in Germany.

Purpose: To evaluate the efficacy and tolerability of Levetiracetam (LEV) in a large pediatric cohort with drug-resistant epilepsy from a prospective multicenter observational study.

Methods: We report the results of a multicenter observational survey of a cohort of 285 pediatric patients (mean: 9.9 years, range: 0; 6-17; 11) with refractory generalized and focal epilepsy who received Levetiracetam as an add-on open label treatment trial.

[Fasciitis nodularis pseudosarcomatosa. A difficult differential diagnosis in the head-neck area].

Introduction: Nodular fasciitis (nF) was first described in 1955 by Konwaler et al. as a benign fibroblastic proliferation. The onset of the disease occurs suddenly as a solitary tumor reaching a size of 10 to 50 mm in a few weeks.

Seizure-inducing paradoxical reaction to antiepileptic drugs.

We report on an 18-month-old girl with a seizure frequency of five/day, receiving an antiepileptic polytherapy consisting of primidone, clonazepam and phenytoin. Following discontinuation of clonazepam and primidone, the patient has been seizure-free under monotherapy for 2 years and shows marked developmental progress. Possible mechanisms of this paradoxical effect of antiepileptic drugs and the implications for antiepileptic therapy are discussed.

Diagnostic significance of nuclear p53 expression in the surveillance of Barrett's esophagus--a longitudinal study.

The efficacy of currently performed surveillance in patients with Barrett's esophagus (BE) is substantially compromised by shortcomings of dysplastic lesions as diagnostic markers. The aim of this study was to evaluate the possible role of p53 protein expression as complementary method in the diagnosis of neoplastic transformation in BE. A longitudinal study was performed.

[Basilar artery insufficiency--a possible cause of sudden infant death? Results of a Doppler ultrasound study of 39 children with apparent life-threatening events].

Aim: Hypoperfusion of the brain stem in dependence on head and body position followed by central bradycardia and apnea may be an important cause of sudden infant death syndrome (SIDS).

Methods: 39 infants with a mean age of 10.6 +/- 10.

Differential diagnosis of neonatal adrenal haemorrhage and congenital neuroblastoma by colour coded Doppler sonography and power Doppler sonography.

Unlabelled: The differentiation between neonatal neuroblastoma and adrenal haemorrhage may be very difficult in the individual case. We investigated eight neonates with adrenal haemorrhage and one patient with congenital neuroblastoma by colour coded Doppler sonography and power Doppler sonography. Six haemorrhages were cystic, whereas the neuroblastoma and four adrenal haemorrhages had a solid appearance.

Superficial esophageal carcinoma in achalasia, detected by endoscopic surveillance.

A 42 year old woman had undergone a Heller myotomy for achalasia of the cardia at age 28. Thereafter, she had become asymptomatic but reported for endoscopic follow-up examinations at three-yearly intervals. Fourteen years after surgery, endoscopy and biopsy revealed "carcinoma in situ" in the proximal esophagus and surgery was recommended.

Distinct immunohistochemical findings in columnar epithelium of esophageal inlet patch and of Barrett's esophagus.

Immunohistochemistry was performed on biopsies of columnar mucosa from 11 patients with Barrett's esophagus and 11 patients with columnar mucosa in the cranial esophagus, the "inlet patch." Both epithelia contained endocrine cells, immunoreactive to antisera against serotonin, glucagon, somatostatin, and pancreatic polypeptide; the specialized mucosa of Barrett's esophagus contained, in addition, neurotensin-immunoreactive cells, and in the mucosa of an inlet patch we found a gastrin cell. These findings are not compatible with some of the current theories on the origin of these epithelia.

Three other types of duodenal polyps: mucosal cysts, focal foveolar hyperplasia, and hyperplastic polyp originating from islands of gastric mucosa.

Seven cases are reported that initially presented on endoscopic examination as duodenal polyps originating from islands of gastric mucosa within the duodenal bulb. Microscopic examination revealed mucosal cysts (MC), focal foveolar hyperplasia (FFH), and hyperplastic polyp (HPP). These lesions must be added to the list of neoplastic and tumorlike lesions of the duodenum that may endoscopically present as polyps.