Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency.

Recurrent abdominal attacks belong to the cardinal and most distressing symptoms of hereditary angioedema (HAE) due to C1 inhibitor deficiency. They are characterized by crampy pain, but may include vomiting, diarrhea, and other features. Detailed clinical data about the symptoms and course of abdominal attacks have not been reported.We retrospectively observed a total of 33,671 abdominal attacks in 153 patients with HAE including a prospectively examined subgroup of 23 patients. Symptoms, course, frequency of attacks, and complications were analyzed.The relation of mild, moderate, and severe attacks was 1:1.4:5.6 in the prospective part of the study. Extra-abdominal symptoms preceded the a…

Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients

Background Hereditary angioedema (HAE) due to C1 inhibitor deficiency is clinically characterized by relapsing skin swellings, abdominal pain attacks, and life-threatening upper airway obstruction. Treatment with androgens prevents attacks for those with this condition. Objective To examine the benefits and risks of long-term treatment with danazol. Methods Data were generated retrospectively from 118 German and Danish patients who had HAE due to C1 inhibitor deficiency and were treated with danazol from 2 months to 30 years. The frequency and severity of acute attacks were registered before and during danazol treatment, and adverse effects to the treatment were noted. Data were collected b…

Treatment of Hereditary Angioedema with the Mutation c.988A>G (p.K330E) in the Plasminogen Gene

Wie wirksam ist psychosomatische Therapie bei somatoformen Störungen? Ergebnisse einer Multicenterstudie

Zusammenfassung Fragestellung: Ziel der Arbeit ist die Beschreibung von Behandlungseffekten bei somatoformen Storungen durch stationare Psychotherapie aufgrund von Patienten- und Therapeutenbeurteilung. Methode: 2 062 Patienten mit der Primardiagnose F45.XX (ICD-10, Somatoforme Storungen) wurden in 17 bayrischen Psychosomatischen Kliniken behandelt. Es wurden vier Subgruppen (F45.0X, F45.3X, F45.4X, sonstige F45.XX) gebildet.Ergebnisse: Die Symptomschwere verringerte sich in allenUntergruppen. Die Pra-Post-Effektstarke betrug d = -.58 beim Global Severity Index der SCL-90-R (GSI) und -1.26 beim Beeintrachtigungs- Schwere-Score (BSS). Untergruppen der somatoformen Storungen unterschieden sic…

Hereditary Angioedema: Long-Term Treatment with One or More Injections of C1 Inhibitor Concentrate per Week

<i>Background:</i> Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is characterized by recurrent edema attacks in various organs. The objective of the present study was to assess the efficacy and safety of weekly long-term replacement treatment with one or more injections of plasma-derived C1-INH concentrate per week (WLTC) in patients with HAE-C1-INH. <i>Methods:</i> Nineteen patients with HAE-C1-INH underwent WLTC for 9 years on average. The benefits and risks were determined based on regular recording by the patients of the severity and number of attacks at the beginning and the end of the study. <i>Results:</i> All patients reported …

Assessment of frontal lobe functioning in schizophrenia and unipolar major depression.

This study has used neuropsychological tasks – Wisconsin Card Sort (WCST), Trail Making (TMT) A and B, Verbal Fluency, Digit Span – to compare acute and currently off-medication schizophrenics, patients with unipolar nonpsychotic major depression and healthy controls. Both patient groups differed significantly from healthy controls in their neuropsychological performance. Furthermore there was only little (quantitative) difference between schizophrenics and depressed patients in the frontal lobe associated tasks: WCST, TMT and Verbal Fluency. Depressed patients tended to perform worse than schizophrenics on Digit Span, a task hypothesized to involve other than frontal areas of the brain. Al…

Determinants of health-related quality of life in patients with persistent somatoform pain disorder

Background. Health-related quality of life (HRQOL) has been investigated widely in patients with chronic pain, but no study has focused particularly on the situation of patients with persistent somatoform pain disorder. Aims. To survey the impairments of patients with somatoform pain disorder (ICD-10: F45.4) and to predict pain-related impairments and HRQOL on the basis of coping styles. Method. A consecutively recruited sample of 100 patients (65% female) was examined in a cross-sectional study. Questionnaires were administered to assess pain intensity (visual analogue scale), pain-related disabilities (Pain Disability Index), quality of life (Short-Form Health Survey-36), and ways of copi…

Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency.

Background Hereditary angioedema due to C1 esterase inhibitor deficiency is clinically characterized by recurrent and self-limiting skin, intestinal, and laryngeal edema. Asphyxiation by laryngeal edema is the main cause of death among patients who die of hereditary angioedema. This study describes the age at which laryngeal edema first occurs, the time between onset and full development, and the effectiveness of therapy and prophylaxis. Methods Information on 123 patients with hereditary angioedema was obtained from medical histories and reports by the general practitioners, emergency physicians, and hospitals involved. Results Sixty-one patients (49.6%) experienced a total of 596 laryngea…

Risk of laryngeal edema and facial swellings after tooth extraction in patients with hereditary angioedema with and without prophylaxis with C1 inhibitor concentrate: a retrospective study.

Objective Tooth extractions may trigger clinical symptoms of hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH). The aim of this study was to determine how many tooth extractions were followed by symptoms of HAE-C1-INH in patients with and without preoperative short-term prophylaxis with C1 inhibitor concentrate. Study design Tooth extractions and clinical symptoms of HAE-C1-INH were determined from clinical record files of 171 patients with HAE-C1-INH. Results Facial swelling or potentially life-threatening laryngeal edema, or both, occurred in 124/577 tooth extractions (21.5%) without prophylaxis. Similar symptoms occurred in a fewer proportion of patients undergoing extrac…

Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation

Background Hereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with a genetic deficiency of functional C1 inhibitor or with normal C1 inhibitor (HAEnCI). In families with HAEnCI, HAE-linked mutations in the F12, PLG, KNG1, ANGPT1, or MYOF genes have been identified. In many families with HAEnCI the genetic cause of the disease is currently unknown. Objective The aim of this study was to identify a novel disease-linked mutation for HAEnCI. Methods The study methods comprised whole exome sequencing, Sanger sequencing analysis, pedigree analysis, bioinformatic analysis of the mutation, and biochemical analysis of p…

Severe Tongue Swellings In Hereditary Angioedema With A Specific Mutation In The Plasminogen Gene

Tamoxifen may cause life-threatening angioedema attacks in patients with hereditary angioedema

On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema

Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate

Abstract Background Acquired angioedema due to C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is a serious condition that may result in life-threatening asphyxiation due to laryngeal edema. It is associated with malignant B-cell lymphoma and other disorders. The purpose of this study was to describe the characteristics and associated disorders of patients with AAE-C1-INH and assess the efficacy of plasma-derived C1-INH concentrate (pdC1-INH) in the treatment of AAE-C1-INH. Forty-four patients with AAE-C1-INH from the Angioedema Outpatient Service of Mainz were assessed for associated disorders. In 32 of these patients, the duration of swelling attacks was measured before and after treatment …

Childhood Neglect: Exploring a Short Questionnaire in Poland and Germany

<b><i>Background:</i></b> Estimates about childhood abuse and neglect in various countries of the world indicate that cases of neglect outnumber cases of abuse by far. However, childhood neglect itself constitutes a neglected domain in psychological and medical research; far more articles have been published about abuse. <b><i>Sampling and Methods:</i></b> A ten-item questionnaire assessing childhood neglect was administered to two surveys in Poland (n = 508) and Germany (n = 500) via the internet. <b><i>Results:</i></b> Internal consistency was high in both countries, i.e. Cronbach's α was 0.82 in Poland and 0.88 in Ge…

Validity of adult retrospective reports of adverse childhood experiences: review of the evidence

Background:  Influential studies have cast doubt on the validity of retrospective reports by adults of their own adverse experiences in childhood. Accordingly, many researchers view retrospective reports with scepticism. Method:  A computer-based search, supplemented by hand searches, was used to identify studies reported between 1980 and 2001 in which there was a quantified assessment of the validity of retrospective recall of sexual abuse, physical abuse, physical/emotional neglect or family discord, using samples of at least 40. Validity was assessed by means of comparisons with contemporaneous, prospectively obtained, court or clinic or research records; by agreement between retrospecti…

Adaptation to life after surgical removal of the bladder—an application of graphical Markov models for analysing longitudinal data

Graphical Markov models have been developed particularly for the analysis of observational data. They allow the control of various background variables when analysing theoretically relevant associations. This paper demonstrates the application and some advantages of graphical Markov models in comparison to conventional statistical analyses. The aim of the study was to identify patients at risk for developing decreased health-related quality of life (QoL) after cystectomy and to explore the influence of coping on QoL in this situation. Therefore, the method was applied to analyse the data of a prospective study, in which 81 patients with bladder cancer were interviewed pre-operatively and in…

Hereditary Angioedema: Increased Number of Attacks after Frequent Treatments with C1 Inhibitor Concentrate

OBJECTIVE: C1 inhibitor concentrate is regarded as effective and safe in treating acute attacks of hereditary angioedema caused by C1 inhibitor deficiency. This study investigated the course of disease in 3 women treated frequently with C1 inhibitor concentrate. METHODS: Three women are described who received C1 inhibitor concentrate for the treatment of acute attacks of hereditary angioedema and experienced an increase in the frequency of attacks during that treatment period. In a control group of 24 patients aged more than 60 years with hereditary angioedema, the natural course of disease was determined. RESULTS: The 3 women (ages 50, 69, and 72 years) had received C1 inhibitor concentrat…

Kreuzvalidierung des “Fragebogen zur Messung der psychosozialen Belastungen bei chronisch-entzündlichen Darmerkrankungen (FBCED)“ an einer nationalen Stichprobe

Zusammenfassung. Theoretischer Hintergrund: Der “Fragebogen zur Messung der psychosozialen Belastungen bei chronisch-entzündlichen Darmerkrankungen“ (FBCED) erfasst Alltagsbelastungen bei Patienten mit chronisch-entzündlichen Darmerkrankungen (CED). Fragestellung: Überprüfung der Faktorenstruktur des FBCED. Methode: Faktorenanalytische Kreuzvalidierung an einer Stichprobe von 1322 CED-Patienten. Ergebnisse: Skalenstruktur und psychometrische Kennwerte der FBCED-Skalen (Affektive Verstimmung, Arzt-Patient-Verhältnis, Angst vor Darmkontrollverlust, Berufliche Beeinträchtigung, Sorge um Krankheitsverschlimmerung, Belastung durch medizinische Maßnahmen, Beeinträchtigung der Sexualität/Partners…

Impaired Health-Related Quality of Life in Inflammatory Bowel Diseases Psychosocial Impact and Coping Styles in a National German Sample

The purpose of this study is to give a detailed survey of the disease-specific and generic quality of life (HRQOL) of adult patients suffering from inflammatory bowel disease (IBD) in Germany.1322 patients suffering from IBD were examined in a cross-sectional study. A questionnaire assessing disease-specific and generic quality of life, coping, and hopelessness was sent to members of the German Crohn/Colitis association.Compared to the general population, the generic HRQOL in IBD patients is significantly reduced. Active coping has a negative influence on patients' generic physical HRQOL during an active phase (beta = -0.31), while this association is not present in the case of patients in …

Childhood Adversities and Adult Headache in Poland and Germany.

Objective Various childhood adversities have been found to be associated with chronic pain in adulthood. However, associations were moderate in most studies, i.e. odds ratios (OR) were between one and two. Method An internet survey was performed in 508 Polish and 500 German subjects. A total of 19 childhood adversities were selected and their associations with headaches explored. Age, gender and country were included as potential confounders, as well as their two-way interaction with the risk factors. Results Two strong risk factors were identified. (1) A combined score for physical and emotional neglect showed an odds ratio (OR) of 2.78 (p < .002) to the frequency of headache in adulthood …

The Spirituality Questionnaire: Core Dimensions of Spirituality

Various approaches are used to assess spirituality via questionnaires, ranging from one-dimensional scales to highly multidimensional models. For the present investigation, an – in spirituality research unorthodox – factor analytic method was chosen: principal axis analysis with oblique rotation. An item collection was examinated and cross-validated via internet. The spirituality questionnaire contains four dimensions: belief in God, search for meaning, mindfulness, and feeling of security. They present with high internal consistencies. The factorial structure of the four dimensions was confirmed. Based on the better fit of this method of extraction the authors assume that these dimensions …

Tamoxifen, a Trigger Factor of Hereditary Angioedema with Normal C1-INH with a Specific Mutation in the F12 Gene (HAE-FXII)

Checkliste zur Bewertung der wissenschaftlichen Qualität kontrollierter psychotherapeutischer Interventionsstudien (CPI)

Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).

Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors. Drug treatment comprised plasma-derived C1 inhibitor (pdC1-INH) for acute swelling attacks and progestins, tranexamic acid, and danaz…

Health-related quality of life in patients with chronic fatigue syndrome

Objective: Chronic fatigue syndrome (CFS) has been reported worldwide. Our objectives were to determine if patients from different countries have similar profiles of impairments. Methods: Health-related quality of life (HRQoL) was assessed in 740 CFS patients in the US, 82 in the UK, and 65 in Germany using the eight subscales of the Short-Form General Health Survey (SF-36). To examine the internal structure, factor analyses were performed. Results: Overall, there was a remarkable similarity in HRQoL among all CFS patients, regardless of location. Patients scored two to three standard deviations below normal on six subscales and one standard deviation below normal on the other two subscales…

Hereditary angioedema with normal C1-INH withversuswithout specificF12gene mutations

Background Hereditary angioedema with normal C1-INH may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or mutations in genes that are still unknown (HAE-unknown). To assess the differences in transmission and inheritance, clinical features, and laboratory parameters between patients with HAE-FXII and HAE-unknown. Methods Sixty-nine patients with HAE-FXII from 23 unrelated families and 196 patients with HAE-unknown from 65 unrelated families were studied. Results Both HAE-FXII and HAE-unknown are inherited as autosomal-dominant traits with incomplete penetrance. The male to female ratio was 1 : 68 in HAE-FXII and 1 : 6.3 in HAE-unknown. The maternal to pa…

Antihistamine-resistant Angioedema in Women with Negative Family History: Estrogens and F12 Gene Mutations

Abstract Background In women with sporadic recurrent angioedema with an unknown cause who are unresponsive to antihistamines and have normal C1 inhibitor activity and a negative family history of angioedema, it is unclear whether they have idiopathic angioedema or hereditary angioedema with normal C1 inhibitor, and what impact exogenous estrogens have on their angioedema. Methods A cohort of 147 women was analyzed for F12 exon 9 mutations and for the influence of oral contraceptives, hormonal replacement therapy, and pregnancy on their angioedema. Results A total of 142 women had idiopathic angioedema unresponsive to antihistamines. Five women had an F12 mutation and thereby hereditary angi…

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.

In hereditary angioedema with normal C1-inhibitor two different missense mutations of codon p.Thr328* in the coagulation factor 12 gene have been reported in some families. In this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin swellings and abdominal pain attacks and in their symptom-free father. This deletion caused a loss of 48 bp of exon 9 (coding amino acids 324* to 340*) in addition to 24 bp of intron 9, including the authentic donor splice site of exon 9. The large deletion of 72 bp was located in the same F12 gene region as the missense mutations p.Thr32…

Observer independent analysis of cerebral glucose metabolism in patients with chronic fatigue syndrome.

Objectives: To evaluate cerebral glucose metabolism, assessed by 18-fluorodeoxyglucose positron emission tomography (FDG-PET), in patients with chronic fatigue syndrome (CFS), using an observer independent analytical approach; and to characterise any observed alterations by correlating them with neuropsychological deficits. Methods: 26 patients (13 female, 13 male) were examined. They all fulfilled the CDC diagnostic criteria for CFS. Their ages ranged from 26 to 61 years (mean (SD) age, 43 (9.3) years). They underwent extensive psychometric testing including the hospital anxiety and depression scale (HADS) and the short form 36 item health questionnaire (SF-36). Brain FDG-PET was done in a…

Cognitive functioning and anhedonia in subjects at risk for schizophrenia

This study investigated the performance of individuals with familiar loading of schizophrenia (healthy siblings of schizophrenic inpatients) on three neuropsychological tasks assumed to require frontal lobe functions: Trail Making Test (TMT), verbal fluency and Wisconsin Card Sorting Test (WCST). Healthy siblings of schizophrenics differed in performance from healthy controls not only on the WCST, but also on the Trail Making Test and the verbal fluency task. Furthermore, scores of physical anhedonia, assessed in a self-report rating scale (Chapman et al., 1976) were also significantly higher in the high risk group than in the control sample. However, healthy siblings of schizophrenics did …

Normabweichungen der Frontalhirnfunktion bei gesunden Angehörigen schizophrener Patienten

Verschiedene Untersuchungsmethoden (MRT, rCBF) weisen auf eine Assoziation zwischen frontalen Hirnarealen und der Schizophrenie hin. In diesem Zusammenhang ist jedoch ungeklart, ob die postulierte Beteiligung des Frontalhirns eine Folge oder ein pramorbides Charakteristikum der Schizophrenie darstellt.

Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females

Abstract The present French–German investigation of fragile-X syndrome (fra-X) was undertaken to disentangle genetic from environmental effects on cognitive performance as assessed with the following measures: Wechsler Adult Intelligence Scale-Revised (WAIS-R), Wisconsin Card Sorting Test, Trail-Making Test, Tower of Hanai, Verbal Fluency Test, Stroop Test, short-term and consolidation memory, and the d2 task. Groups with different genotypes ( n =11 mothers with a full mutation in the FMR-1 gene of fra-X children; n =65 mothers with a premutation in the FMR-1 gene of fra-X children; n =18 siblings of these mothers with normal CGG repeats) and with different psychosocial stressors from fra-X…

Reaction time paradigms in subjects at risk for schizophrenia.

Abstract Deviant response patterns in experimental reaction time paradigms in schizophrenic probands are well documented. Although simple reaction times are strongly influenced by the current psychopathological status of the proband (e.g. florid psychotic patients versus remitted patients) these influences are less clear for measures obtained from more complex reaction time paradigms. These include the crossover paradigm (reaction time to stimuli presented after constant preparatory intervals in comparison to reaction time to stimuli presented after irregular preparatory intervals) and the modality shift paradigm (reaction time to a stimulus (light or tone) when the modality of the stimulus…

The symptom check-list, SCL-90-R: its use and characteristics in chronic pain patients

The SCL-90-R is a widely-used questionnaire for self-report of psychological distress and multiple aspects of psychopathology, as part of the evaluation of chronic pain patients and other non-psychiatric populations. The aim of this study is the presentation of clinical results of this multidimensional questionnaire in a convenience sample of 3540 chronic pain patients treated in a multidisciplinary pain centre. Confirmatory Factor Analysis (CFA), Exploratory Factor Analysis (EFA), single scale factor analyses and Cronbach's alphas are used to assess the internal structure and correlation to other instruments (CES-D, STAI, MPSS) to assess construct validity. It is shown that the 9 dimension…

Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course.

Abstract Purpose A new type of hereditary angioedema was described recently. It was characterized by recurrent bouts of angioedema in various organs and normal C1 inhibitor and was observed mainly in women. Our aim was to conduct a detailed study of the clinical features of this condition. Methods A total of 138 patients with hereditary angioedema and normal C1 inhibitor who belonged to 43 unrelated families were examined through the use of standardized questionnaires. Results A majority of patients with hereditary angioedema and normal C1 inhibitor had skin swellings (92.8%), tongue swellings (53.6%), and abdominal pain attacks (50%). Laryngeal edema (25.4%) and uvular edema (21.7%) also w…

Treatment with C1 inhibitor concentrate in abdominal pain attacks of patients with hereditary angioedema

BACKGROUND: Abdominal edema attacks in patients with hereditary angioedema are often extremely painful, associated with vomiting and diarrhea, and have a high potential for causing recurrent disability of the patient. STUDY DESIGN AND METHODS: Intraindividual comparison of retrospective data in 75 hereditary angioedema patients comprising 4,834 abdominal attacks treated with C1 inhibitor concentrate versus 17,444 untreated abdominal attacks. RESULTS: The mean duration of abdominal attacks was 92.0 hours (SD, 40.8 hr) when untreated compared to 39.9 hours (SD, 30.0 hr) when treated. Patients reported a mean maximal pain score of 8.6 (SD, 1.7; range, 1-10) for untreated attacks compared to 4.…

Mutations in the Factor XII Gene in Solitary Cases of Recurrent Angioedema with Normal C1 Inhibitor Induced or Worsened by Oral Contraceptives or Hormonal Replacement Therapy

Metabolic and psychosocial effects of minimal invasive gastric banding for morbid obesity

Obesity is considered a primary risk factor for cardiovascular disease and related mortality. The current study aimed to investigate the efficacy of minimal invasive gastric banding (GB) surgery for reducing caloric intake in morbid obesity, and to analyze the effects of weight loss on body composition and metabolic and psychosocial outcomes. Twenty-six adult severely obese patients (mean body mass index [BMI], 48.1 kg/m(2); range, 42 to 56) underwent adjustable silicone laparoscopic GB. Nine additional obese patients who declined surgery were treated with metformin (2 g daily) and served as a small additional group (BMI, 50.5 kg/m(2); range, 41 to 68). Presurgery and 17 +/- 2.2 months post…

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor

Hereditary angioedema with a mutation in the plasminogen gene

Background Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. Methods The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Results We detected a mutation in the plasminogen (PLG) gene in patients with HAEnCI. The mutation c.9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 domain of the PLG protein. The mutation…

Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency.

Background Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is characterized by relapsing skin swellings, abdominal pain attacks, and, less frequently, potentially life-threatening laryngeal attacks. Objective This study determined the mortality of patients with and without the diagnosis of HAE-C1-INH and analyzed fatal laryngeal attacks. Methods A cohort of 728 patients from 182 families with HAE-C1-INH was evaluated for death cases by analyzing pedigrees. Detailed information on fatal laryngeal attacks in 36 patients was obtained by questioning relatives and treating physicians. Results Of the 214 patients who had died, 70 asphyxiated during a laryngeal attack. Mortality …

Hereditary Angioedema with Normal C1-INH with Versus without a Specific Mutation in the F12 Gene

Blindness, tetraspasticity, and other signs of irreversible brain damage in hereditary angioedema

Stabilität und Stimmungsabhängigkeit retrospektiver Berichte elterlichen Erziehungsverhaltens

Zusammenfassung. Theoretischer Hintergrund: Retrospektiver Daten zum elterlichen Erziehungsverhalten sind in klinischer Psychologie und Psychotherapieforschung von Bedeutung, da Zusammenhänge zur Manifestation psychischer Störungen im Erwachsenenalter bestehen. Fragestellung: Bleibt das retrospektiv berichtete Erziehungsverhalten zeitlich stabil und welchen Einfluss nimmt die aktuelle Stimmung auf die Einschätzung? Methode: 105 Patienten wurden zu zwei Zeitpunkten im mittleren Abstand von 2,2 Jahren anhand des Kindheitsfragebogens und der Symptom-Checkliste-27 befragt. Ergebnis: Die Einschätzung des Erziehungsverhaltens weist in fast allen der erfassten Erziehungsstildimensionen hohe Stabi…

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin

Der Kindheitsfragebogen, ein Instrument zur Beschreibung der erlebten Kindheitsbeziehung zu den Eltern

Zusammenfassung: Mit dem Kindheitsfragebogen (KFB) wird die erlebte Beziehung von erwachsenen Personen zu ihren Eltern in der Kindheit und Jugendzeit beschrieben. Es werden acht verschiedene Bereiche der Beziehungen zur Mutter bzw. zum Vater erfasst: Wahrgenommene Liebe, Strafverhalten, Elternteil als Vorbild, Bagatellisierung des Strafverhaltens, Ehrgeiz, Rollenumkehr, Kontrolle und Geschwisterrivalität. In vier weiteren Skalen wird die Ehe der Eltern beurteilt, der sozioökonomische Status des Elternhauses eingeschätzt sowie die soziale Unterstützung von außerhalb des Elternhauses und das Lebensgefühl in der Kindheit angegeben. In einer Stichprobe von 700 Patienten weisen die Skalen überw…

Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy.

Background Hereditary angioedema caused by mutations in the factor XII gene is a recently described disease entity that occurs mainly in women. It differs from hereditary angioedema caused by C1 inhibitor deficiency. Objective To assess the clinical symptoms, factors triggering acute attacks, and treatments of this disease. Methods Thirty-five female patients with hereditary angioedema and the factor XII mutations p.Thr309Lys and p.Thr309Arg who came from 13 unrelated families were studied. The observation period was 8.4 years on average (range, 2-26 years). Results Patients had on average 12.7 ± 7.9 angioedema attacks per year. Recurrent facial swellings occurred in all patients; skin swel…

Are childhood adversities relevant in patients with chronic low back pain?

Abstract Previous studies have found a high number of childhood adversities in patients with chronic low back pain, particularly in patients reporting persisting problems after back surgery. Our aim was to reproduce these results. Within the framework of a comprehensive diagnostic assessment and psychometric evaluation, 109 inpatients who had been treated for low back pain were examined in the orthopedics department of a German university hospital. Five risk factors investigated by Schofferman and his staff (Schofferman et al ., 1993) were re-assessed in all of our patients using a structured biographical interview. The German chronic low back pain group was also compared with an age- and g…

Hereditary Angioedema: New Findings Concerning Symptoms, Affected Organs, and Course

Abstract Purpose Hereditary angioedema (HAE) due to C1 inhibitor deficiency is clinically characterized by relapsing skin swellings, abdominal pain attacks, and life-threatening upper airway obstruction. Our aim was to examine a temporal and spatial pattern of the edema episodes by evaluating the long-term course of hereditary angioedema in order to establish a specific swelling pattern. Subjects and methods Data were generated from 221 patients with C1 inhibitor deficiency by asking them about symptoms they experienced during their edema episodes. Documentation was accomplished through the use of standardized questionnaires. Results A total of 131110 edema episodes were observed. Clinical …

Blood endocannabinoid levels in patients with panic disorder.

Abstract Background The development and maintenance of anxiety disorders is not fully understood. There is consensus in the literature that in addition to genetic factors, social, psychological and neurobiological factors are of crucial importance. The present exploratory study investigates the influence of the endocannabinoids (EC) and related N-acylethanolamines (NA) on the maintenance of panic disorder (PD). Methods A total of n = 36 PD and n = 26 healthy controls (HC) were included in the study. Baseline characteristics showed no differences between the two groups. The participants were exposed to the Trier Social Stress Test (TSST) for reliable laboratory stress induction. Blood sample…

A Cautionary Note on Incremental Fit Indices Reported by LISREL

Abstract. Incremental fit indices (IFIs) are regularly used when assessing the fit of structural equation models. IFIs are based on the comparison of the fit of a target model with that of a null model. For maximum-likelihood estimation, IFIs are usually computed by using the χ2 statistics of the maximum-likelihood fitting function (ML-χ2). However, LISREL recently changed the computation of IFIs. Since version 8.52, IFIs reported by LISREL are based on the χ2 statistics of the reweighted least squares fitting function (RLS-χ2). Although both functions lead to the same maximum-likelihood parameter estimates, the two χ2 statistics reach different values. Because these differences are especi…

On the Randomisation Gallery:Random Reflections on a Popular Method in Medical Research

Objective: Randomized controlled trials (RCTs) and meta-analysis are increasingly utilized methods in medicine. There is, however, substantial critique on both from the theoretical as well as from the practical side. Methods: Seven points on RCTs and three on meta-analysis were choosen to summarize the current critique. Studies critically reviewing the quality of meta-analyses in various fields of medicine were narratively reviewed. Results: The typical RCT is short, performed on a small group of selected patients without severe comorbidity. It is expensive and favors drugs over other forms of therapies. Furthermore, neither patients nor doctors much like RCTs, they feel restricted in their…

Treatment of skin swellings with C1-inhibitor concentrate in patients with hereditary angio-oedema.

Background:  Skin swellings are the most frequent symptoms in hereditary angio-oedema (HAE) arising out of C1-inhibitor (C1-INH) deficiency. They may be painful and impact daily activities of patients. Detailed clinical data concerning the treatment of skin swellings by C1-INH concentrate have not been reported yet. Methods:  From 1976 through 2007, a total of 2104 skin-swelling attacks in 47 patients with HAE were treated with the C1-INH concentrate. Time to relief and duration of the swellings were documented during personal interviews using standardized questionnaires. The results were compared with 9046 untreated skin swellings in the same patients. Results:  The first clinical sign of …

Prevalence of psychiatric disorders in an onset cohort of adults with type 1 diabetes

Previous studies indicate a high prevalence of psychiatric disorders in adults with type 1 diabetes mellitus. The aim of our study was to determine if newly diagnosed adults with type 1 diabetes already have an elevated rate of psychiatric disorders at the beginning of their physical illness.The authors consecutively recruited 313 newly diagnosed, adult inpatients with type 1 diabetes (age 17-40 years) from 12 hospitals. A national, representative population sample of 2046 persons of a similar age range served as the reference group. Psychiatric disorders were measured in both groups using structured interviews that provided diagnoses according to DSM-IV.There was a point prevalence of 12.5…

Belastung und psychosoziale Betreuungsbedürftigkeit von Glioblastompatienten

Glioblastoma patients should be provided with a professional health care system that helps reduce their psychosocial burden. The aim of this study was to identify patients in need of psychosocial intervention. In addition, it was examined whether physicians' assessments adequately address the burden patients are under and their need for intervention. During their visit to one of two neurosurgery outpatient departments, n = 49 glioblastoma patients filled out the short version of the Hornheider questionnaire (HFK). Consulting physicians also rated their patients' burdens in a specially adapted version of the questionnaire (HFK-F). The results of the psychometric evaluation with both instrume…

Was misst der FKV?

Zusammenfassung. Theoretischer Hintergrund: Der Fragebogen zur Krankheitsverarbeitung (FKV-LIS; Muthny, 1989 ) ist ein im deutschsprachigem Raum häufig eingesetzter Fragebogen zur Messung von Krankheitsbewältigung. Fragestellung: Das Ziel der vorliegenden Studie ist die Überprüfung der Subskalen-Reliabilität und -Spezifität bei unterschiedlichen Erkrankungsgruppen. Methode: Die Gütekriterien der FKV-LIS Skalen werden bei Patienten mit chronisch-entzündlichen Darmerkrankungen (n = 1265), Typ-I-Diabetes (n = 552) oder Harnblasenkarzinom (n = 81) berechnet. Konvergente und divergente Trennschärfen der einzelnen Items werden analysiert. Ergebnisse: “Aktive Bewältigung“ und “Depressive Verarbei…

Selection bias during recruitment of elderly subjects from the general population for psychiatric interviews

The aim of the present study was to determine and assess a possible selection bias in an epidemiologic investigation in the elderly. A stratified sample of 1305 probands aged 60-99 years was initially contacted by mail and then by telephone to obtain their consent to participate in a psychiatric interview. A liberal recruitment procedure led to interview participation of only 291 subjects. The proportion of younger, male, and married subjects participating in the study was greater than that of elderly, female, and single or widowed subjects. Subjects without a psychiatric lifetime diagnosis were more cooperative than those with a psychiatric disorder. The latter finding demonstrates the nee…

Estimating person parameters via item response model and simple sum score in small samples with few polytomous items: A simulation study

Background The Item Response Theory (IRT) is becoming increasingly popular for item analysis. Theoretical considerations and simulation studies suggest that parameter estimates will become precise only by utilizing many items in large samples. Method A simulation study focusing on a single scale was performed on data with (a) n = 40, 60, 80, 120, 200, 300, 500, and 900 cases utilizing (b) 4, 8, 16, or 32 items. The items were (c) symmetrically distributed vs. skew (skewness 0, 1, and 2). Item loadings were (d) homogeneous vs. heterogeneous. Item loadings were (e) low vs. high. Half of the items had (f) a correlated error or not. The number of answering categories (g) was four vs. five. A to…

Cross-validation of the SCL-27: a short psychometric screening instrument for chronic pain patients

We constructed a short multidimensional screening instrument for chronic pain patients based on the items contained in the Symptom Check List-90-Revised (SCL-90-R). The proposed dimensional structure of the SCL-90-R was recently shown to be irreproducible in chronic pain patients. As a consequence, the use of the Global Severity Index (GSI) was recommended, although it did not capture all information contained in the many items of the SCL-90-R. Based on an exploratory factor analysis, a six-dimensional structure using 27 items from the SCL-90-R was explored utilizing the data of 2780 chronic pain patients. A short form was prospectively tested on 581 patients in the same setting. Criteria f…

Kallikrein–kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys

In a subgroup of hereditary angioedema (HAE) patients with normal C1-esterase inhibitor levels, HAE is caused by a Thr309Lys mutation in the coagulation factor XII (F12) gene. The aim of this study was to examine elements of the kallikrein-kinin system ('contact system') and the downstream-linked coagulation, complement and fibrinolytic systems in the plasma of six patients with HAE caused by the Thr309Lys mutation and healthy probands. Blood samples were taken from participants during the symptom-free interval between attacks. Samples were analyzed for activity and concentrations of components of the kallikrein-kinin system and linked enzyme systems. The mean FXII clotting activity was 90%…