RESUMEN
Established methods of age estimation are based on correlating defined maturation stages of bony structures with tables representing the observed range of biological ages in the majority of cases. In this retrospective monocentric study in southwestern Germany, common age estimation methodology was assessed in n = 198 subjects at the age of 25 or younger by analyzing the influence of age, quadratic age, biological sex and age-sex interaction on the ossification stages of the medial epiphysis fugue. Three readers (ICC ≥ 0.81 for left/right side) evaluated routine care computed tomography images of the clavicle with a slice thickness of 1 mm. By using least square regression analyses, to determine the real biological age a quadratic function was determined corrected for the age estimated by established methods and sex (R2 = 0.6 each side), reducing the mean absolute error and root mean squared error in the age estimation of women (2.57 and 3.19) and men (2.57 and 3.47) to 1.54 and 1.82 for women, and 1.54 and 2.25 for men. In women, the medial clavicle epiphysis seem to fuse faster, which was particularly observable from approximately 18 years of age. Before that age, the estimation method was relatively close to the ideal correlation between assessed and real age. To conclude, the presented new method enables more precise age estimation in individuals and facilitates the determination and quantification of additional variables, quantifying their influence on the maturation of the medial clavicle epiphysis based on the established ossification stages.
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Determinación de la Edad por el Esqueleto , Clavícula , Masculino , Humanos , Femenino , Adolescente , Clavícula/diagnóstico por imagen , Clavícula/anatomía & histología , Estudios Retrospectivos , Determinación de la Edad por el Esqueleto/métodos , Tomografía Computarizada por Rayos X/métodos , Análisis de Regresión , Osteogénesis , Antropología Forense/métodosRESUMEN
Objectives: The objective of this study was to evaluate the accuracy of forensic age estimation in a German population by combining clavicle and wisdom teeth assessments based on cone beam computed tomography (CT) data. The study aimed to determine the reliability of this approach in predicting biological age. Material and Methods: A total of 161 CT data sets from 120 males and 41 females with known exact ages were evaluated by three raters. The clavicle was assessed according to stages 1-5 (including substages 2a-c and 3a-c), and the Demirjian stage's classification method was used for the wisdom teeth. Inter-class correlation (ICC) was calculated to assess the agreement among the three raters. Additionally, ordinary least square regressions were performed to predict chronological age using the clavicle or one of the four teeth. Finally, age prediction models using multiple indicators were developed. Results: The ICCs ranged from 0.82 for the clavicle to 0.86 and 0.88 for the wisdom teeth. Linear estimation tended to overestimate chronological age, especially in subjects over 18 years old. The clavicle showed the strongest overestimation. Combining age estimation from the clavicle with the upper and lower wisdom teeth improved the predictive power, resulting in a 14% and 15% increase in R² for the upper and lower wisdom teeth, respectively. Adding more than one tooth to the prediction did not improve the predictive power (all ΔR² < 1%). Conclusions: Age estimation using CT can be significantly improved by combining information from the analysis of wisdom teeth with age estimation based on the clavicle.
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Objectives: About 20 % of children in Germany grow up with a single mother - this is often associated with multiple strain for the mothers and may have adverse effects on the child-parent relationship. Methods: In two retrospective internet surveys (wave 1 born in 1960s, wave 2 born in 1990s) perceived maternal love and role reversal were assessed in children of single mothers and children grown up in two parent families. Results: In both waves high values of maternal love were reported. For children raised by single mothers, strong effects for age and occupational status were observed. Contrary to literature, no gender specific effects on role reversal were observed in this sample. Discussion: High occupational strain in a single mother was associated with less perceived love in the child.Multiple strain in singlemothers should findmore social and political attention. Regarding role reversal support should address daughters and sons similarly.
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Amor , Padres , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Madres , Encuestas y CuestionariosRESUMEN
BACKGROUND: Chronic recurrent angioedema without wheals (CRA) with normal C1 inhibitor (C1-INH) that is unresponsive to antihistamines may involve patients with recurrent angioedema of unknown cause (ie, so-called non-histaminergic idiopathic angioedema) as well as patients with hereditary angioedema with normal C1-INH (HAEnCI) when HAEnCI occurs in only one family member. OBJECTIVE: To identify patients with one of type of HAEnCI in a group of patients with CRA with normal C1-INH that was unresponsive to antihistamines. METHODS: A total of 132 patients with CRA and normal C1-INH that was unresponsive to antihistamines underwent mutational and clinical analysis. The presence of hereditary angioedema-specific mutations in Factor XII, plasminogen, ANGPT1, KNG1, MYOF, and HS3ST6 genes was tested by Sanger sequencing. When an HAEnCI-causing mutation was identified, available asymptomatic relatives were genetically tested. RESULTS: In 116 of 132 solitary patients with CRA (87.9%), none of the six HAEnCI-linked mutations could be found. Ten patients (7.6%) had the Factor XII mutation c.983C>A (p.T328K) and six (4.5%) the plasminogen mutation c.988A>G (p.K330E). Other mutations linked to HAEnCI were not found in this patient series. In the 16 families with HAEnCI, 11 asymptomatic carriers of one of the HAEnCI-linked mutations were identified. CONCLUSIONS: A search for HAEnCI-linked mutations in patients with solitary CRA may lead to the detection of patients and families with HAEnCI. This is important because family members can be identified who are at risk for developing potentially life-threatening angioedema, although they were previously asymptomatic. Without genetic investigation, the risk for an HAEnCI would have remained undetected in these patients and asymptomatic relatives.
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Angioedema , Angioedemas Hereditarios , Humanos , Angioedema/diagnóstico , Angioedemas Hereditarios/tratamiento farmacológico , Angioedemas Hereditarios/genética , Angioedemas Hereditarios/complicaciones , Proteína Inhibidora del Complemento C1/genética , Proteína Inhibidora del Complemento C1/análisis , Factor XII/genética , Antagonistas de los Receptores Histamínicos , Mutación , Plasminógeno/genéticaRESUMEN
The INTERPOL standard for the identification of unknown individuals includes the established primary characteristics of fingerprint, DNA, and teeth. Exposure to noxious agents such as fire and water often severely limits the availability of usable material such as fingerprints. In addition to teeth, the protected oral cavity also houses palatal fold pairs, which are the subject of this study to demonstrate individuality and consequently support identification. Material and Methods: In this cohort study, 105 participants' palates were scanned twice with a dental intraoral scanner (Omnicam SIRONA®) over a 3 month period and were then analyzed using a matching program. The intraindividual and interindividual differences were determined, and the mean values and standard deviations were calculated and presented. Results: The intraindividual differences are highly significantly lower than the interindividual differences (p < 0.0001). Conclusions: Within the limitations of this study, the results suggest that palatal rugae pairs can be considered a highly individual feature and could be considered an identification feature in a young and healthy population.
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Hueso Paladar , Diente , Humanos , Estudios de Cohortes , Estudios Longitudinales , Hueso Paladar/diagnóstico por imagen , Medicina LegalRESUMEN
Objectives Dental age determination relies on the presence of wisdom teeth, which can be assigned to specific age ranges according to their stage of development. The purpose of this study is to highlight the applicability of the Demirjian staging of layman compared to expert, as well as the inclusion of all four wisdom teeth in the overall assessment, in order to emphasize and critically highlight a precise age estimation in clinical practice, especially in the case of agenesis or the presence of less than all four wisdom teeth. Material and Methods: In this study, dental age determination is performed and compared by a trained layperson and an expert using 385 orthopantomograms. The radiographs of known chronological age from male patients in the age range of 11−22 years were acquired from the University Medical Center Mainz. All four wisdom teeth were radiologically viewed if present. Demirjian staging with stages A−H was applied, and regression analysis was performed. Results: The relationship between mineralization of wisdom teeth (18, 28, 38 and 48) and age was linear for all teeth (p < 0.01), except for tooth 18 (p = 0.02). Comparing the prediction of the four teeth individually revealed that the lower teeth gave better predictions than the upper ones (R2 ≥ 0.50 vs. R2 < 0.50). Conclusions: For clinical use, the mandibular wisdom teeth should be preferred when performing dental age estimation using the Demirjian staging method. As a result of the present analysis, two ways of determining dental age by wisdom teeth can be suggested. One is to take only tooth 38, with the formula: age = 3.3 + 0.73 × mineralization of tooth_38. The second recommendation would be to take tooth_48. If both are unavailable, the formula would be age = −0.5 + 0.94 × mineralization tooth_28. Utilizing tooth 18 would not lead to more precise results.
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BACKGROUND: Hereditary angioedema (HAE) may be caused by a genetic deficiency of functional C1 inhibitor (C1-INH) or linked with mutations in the F12, PLG, and other genes in combination with normal C1-INH (HAEnCI). Although the types of hereditary angioedema due to deficiency of functional C1 inhibitor and HAEnCI are autosomal dominant inherited, there is the impression that in the types of HAEnCI more females carry disease-linked mutations. OBJECTIVE: The aim of this study was to analyze the passing on of the HAE-specific mutations to the next generations in families with various types of HAE. METHODS: Methods comprised pedigree analysis, Sanger sequencing analysis, biochemical analysis of parameters of the kallikrein-kinin system, and statistical analysis of the results. We analyzed a total of 1494 offspring of individuals carrying an HAE-linked mutation. RESULTS: In HAE, less male and more female offspring of mutation carriers than expected for autosomal dominant inheritance inherited the familial mutation. In addition, there were less male offspring than expected in HAEnCI. This was independent of paternal or maternal inheritance. CONCLUSION: We conclude that there is a sex- and mutation-dependent selection during early embryogenesis, possible around the time of implantation, favoring male wild-type and female mutant embryos. It also appears that 20% to 25% of male embryos carrying the HAE mutation are lost specific in HAEnCI. These findings point out that there is a potentially important role of the kallikrein-kinin system during early embryonic development.
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Angioedemas Hereditarios , Proteína Inhibidora del Complemento C1 , Angioedemas Hereditarios/genética , Proteína Inhibidora del Complemento C1/genética , Desarrollo Embrionario , Femenino , Humanos , Patrón de Herencia , Masculino , Mutación , EmbarazoRESUMEN
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 parameters of the kallikrein-kinin (contact) system. RESULTS: By performing whole exome sequencing on a multigenerational family with HAEnCI we were able to identify the heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6) mutation c.430A>T (p.Thr144Ser) in all 3 affected family members who were sequenced. This gene encodes HS-glucosamine 3-O-sulfotransferase 6 (3-OST-6), which is involved in the last step of HS biosynthesis. The p.Thr144Ser mutation is likely to affect the interaction between 2 ß-sheets stabilizing the active center of the 3-OST-6 protein. CONCLUSIONS: We conclude that mutant 3-OST-6 fails to transfer sulfo groups to the 3-OH position of HS, resulting in incomplete HS biosynthesis. This likely affects cell surface interactions of key players in angioedema formation and is a novel mechanism for disease development.
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Angioedemas Hereditarios/genética , Sulfotransferasas/genética , Adulto , Anciano de 80 o más Años , Femenino , Humanos , Persona de Mediana Edad , Mutación , Secuenciación del ExomaRESUMEN
OBJECTIVES: The objective of the study was to seek connections between mentalbody representations (body image, body schema and body sense) and parents' attitudes perceived retrospectively in patients with irritable bowel syndrome. METHODS: 184 adults aged 18 to 64 participated in the study, including patients with irritable bowel syndrome (IBS; N=63), patients with inflammatory bowel diseases (IBD; N=60) and healthy respondents (N=61). Respondents took the Batteryof Tests of the Body Self Representations (B. Mirucka) and the Childhood Questionnaire (J. Hardt, U.T. Egle and A. Engfer). RESULTS: (1) IBS patients are characterized by lower representations of the body schema, body image and body sense compared to healthy people as well as lower organized body schema and body sense compared to IBD patients. (2) IBS patients in a similar way to IBS patients and healthy people describe the attitude of their mothers during childhood. In comparison to healthy people, IBS patients experience their fathers as significantly less loving. (3) In the group of IBS patients, there are significant relationships between the body sense and the retrospectively perceived attitude of love and control from both mothers and fathers. CONCLUSIONS: IBS patients are characterized by lower organization of mental body representation than healthy people and IBD patients. In the psychosocial functioning of IBS patients, the representation of body sense is particularly important. The peculiarity of the IBS patients'childhood relationship with their parents seems to be significant and requires further research.
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Enfermedades Inflamatorias del Intestino , Síndrome del Colon Irritable , Adulto , Actitud , Humanos , Enfermedades Inflamatorias del Intestino/psicología , Síndrome del Colon Irritable/psicología , Padres , Calidad de Vida , Estudios RetrospectivosRESUMEN
Objectives: The limitations in teaching resulting from the Covid-19 epidemic were the rational for transferring the course in Medical Psychology and Medical Sociology (doctor-patient communication) into an asynchronous e-learning course. For this purpose, ten exercises were developed to be downloaded by the students and the solutions returned to the course lecturer on a weekly basis. In addition, two students individually recorded via video one of eight doctor-patient exercise conversations, which were then evaluated by four other students and the respective lecturer. Methods: For evaluation, the students filled out an exercise and an effect-related questionnaire with 21 items. Results: The questionnaire was completed by n=203 (98%) students (59% female, 41% male). The video-based situation analyses (91%) helped most of them to become rather closely or very well acquainted with medical conversation practice. 76% rated the exercise "Enlightenment Conversation/SPIKES Protocol" as fairly helpful or very helpful in respect to the practicing concepts of medical conversation. When asked about the effects, most of them found the idea of patient orientation in medicine to be quite helpful or very helpful (83%). About a quarter of them (24%) stated that the online course could not, or only slightly, replace face-to-face teaching. This assessment was less pronounced among female students than among male students (Wilcoxon test p<.01). Conclusion: Our online course concept of physician-patient conversation found good overall response among pre-clinical medical students. However, the participants expressed different opinions about the extent to which the concept can replace face-to-face teaching.
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COVID-19/epidemiología , Instrucción por Computador/métodos , Educación a Distancia/organización & administración , Educación de Pregrado en Medicina/organización & administración , Relaciones Médico-Paciente , Competencia Clínica , Comunicación , Escolaridad , Humanos , Pandemias , SARS-CoV-2 , Estudiantes de Medicina/psicologíaRESUMEN
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mutations linked to the HAE phenotype have been identified. Our aim was to qualitatively assess and describe the clinical differentiators of these genetically identified HAEnCI types. To achieve this, we performed a systematic literature review of patients with angioedema symptoms and a genetically confirmed diagnosis of an HAEnCI type. RESULTS: A systematic literature search, conducted in March 2020, returned 132 records, 43 of which describe patients with symptoms of angioedema and a genetically confirmed diagnosis of an HAEnCI type. Overall, this included 602 patient cases from 220 families. HAEnCI with a mutation in the coagulation factor XII gene (F12) (HAE-FXII) was diagnosed in 446 patients from 185 families (male:female ratio = 1:10). Estrogens (oral contraceptives, hormonal replacement therapy, and pregnancy) negatively impacted the course of disease in most female patients (252 of 277). Asphyxia occurred in 2 of 446 patients. On-demand and/or long-term prophylaxis treatment included C1-INH concentrates, icatibant, progestins, and tranexamic acid. HAEnCI with a specific mutation in the plasminogen gene (HAE-PLG) was diagnosed in 146 patients from 33 families (male:female ratio = 1:3). Estrogens had a negative influence on the course of disease in the minority of female patients (14 of 62). Tongue swelling was an important clinical feature. Asphyxia occurred in 3 of 146 patients. On-demand treatment with icatibant and C1-INH concentrate and long-term prophylaxis with progestins and tranexamic acid were effective. HAEnCI with a specific mutation in the angiopoietin-1 gene (HAE-ANGPT1) was diagnosed in 4 patients from 1 family and HAEnCI with a specific mutation in the kininogen-1 gene (HAE-KNG1) in 6 patients from 1 family. CONCLUSIONS: A number of clinical differentiators for the different types of HAEnCI have been identified which may support clinicians to narrow down the correct diagnosis of HAEnCI prior to genetic testing and thereby guide appropriate treatment and management decisions. However, confirmation of the causative gene mutation by genetic testing will always be required.
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Angioedema , Angioedemas Hereditarios , Angioedemas Hereditarios/tratamiento farmacológico , Angioedemas Hereditarios/genética , Proteína Inhibidora del Complemento C1/genética , Factor XII/genética , Femenino , Humanos , Masculino , Mutación/genética , Fenotipo , EmbarazoRESUMEN
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 samples were taken during the TSST by an intravenous catheter to examine the endocannabinoid (EC) stress response. Repeated measures ANOVA was conducted to test for main effects of time and group as well as the respective interaction. RESULTS: Participants with PD consistently had significantly higher EC and NA blood levels than HC. The consistently high EC and NA levels barely showed any reactivity as indicated by a lack of statistical variance. In line with these findings no reaction to the psychosocial stressor TSST could be detected. CONCLUSION: Our main results show significant differences in EC concentrations between participants with PD and HC. These findings suggest that an imbalance in the ECS contributes to the maintenance of PD. Increased endocannabinoid levels may have important implications for organic diseases such as cardiovascular disorders. The limitations of the study as well as implications for further investigations are discussed.
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Endocannabinoides/análisis , Trastorno de Pánico/metabolismo , Adulto , Endocannabinoides/sangre , Etanolaminas/análisis , Etanolaminas/sangre , Femenino , Frecuencia Cardíaca/fisiología , Humanos , Hidrocortisona/sangre , Sistema Hipotálamo-Hipofisario/metabolismo , Masculino , Persona de Mediana Edad , Trastorno de Pánico/sangre , Sistema Hipófiso-Suprarrenal/metabolismo , Saliva/química , Estrés Psicológico/sangre , Estrés Psicológico/psicologíaRESUMEN
BACKGROUND: Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. Aim of this observational, retrospective study is to report about the efficacy of various treatments for acute attacks and long-term prophylaxis. RESULTS: The study included 111 patients with HAE-PLG. Thirteen patients were treated with icatibant for 201 acute swelling attacks. The mean duration of the treated attacks (mean 4.3 h; standard deviation [SD] 2.6 h) was significantly shorter than that of the previous 149 untreated attacks (mean 44.7 h; SD 28.6 h, p < 0.0001). Twelve patients were treated with plasma-derived C1-INH for 74 acute swelling attacks. The duration of the treated attacks (mean 31.5 h; SD 18.6 h) was significantly shorter than that of the previous 129 untreated in the same patients (mean 48.2 h; SD 32.5 h, p < 0.0001). Corticosteroids alone showed good response in 61/268 attacks (8 patients), low response in 82/268 attacks (7 patients), and no response in 125/268 attacks (26 patients). Corticosteroids combined with antihistamines showed good response in 13/309 attacks (4 patients), low response in 150/309 attacks (7 patients), and no response in 146/309 attacks (17 patients). Antihistamines alone were ineffective in all 37 attacks of 5 patients. In 2 patients with imminent asphyxiation due to tongue swelling and partial obstruction of the upper airways fresh frozen plasma was used without clinical response. The mean reduction in attack frequency was 46.3% under progestins (6 patients), 93.9% under tranexamic acid (3 patients) and 83.3% under danazol (3 patients). CONCLUSIONS: For patients with HAE-PLG various treatment options are available, which completely or at least partially reduce attack duration or attack frequency.
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Angioedema , Angioedemas Hereditarios , Angioedemas Hereditarios/tratamiento farmacológico , Angioedemas Hereditarios/genética , Proteína Inhibidora del Complemento C1 , Humanos , Plasminógeno , Estudios RetrospectivosRESUMEN
PURPOSE: To determine whether amblyopia interferes with cognitive functions requiring visuospatial processing, measured by the Tower of London (ToL) test. METHODS: The current study was based on a sub-cohort from the population-based Gutenberg Health Study and included 1,569 participants aged 35 to 44 years. Amblyopia was defined as a visual acuity of 0.63 or worse (worse eye) in the presence of an amblyogenic factor; prevalence was 5%. There were three groups: participants with amblyopia (n = 78), participants with a visual acuity of 0.63 or worse (worse eye) without amblyopia (n = 65), and participants with a visual acuity of better than 0.63 (worse eye) (n = 1,426). Visuospatial planning ability was measured by the ToL test (touch-screen version), and the performance score ranged from 0 to 24, depending on the number of correctly solved problems. The authors used linear regression models to investigate the association between amblyopia and ToL test scores, adjusting for age, sex, and socioeconomic status. RESULTS: The mean ± standard deviation of ToL test performance was 15.31 ± 3.29 in participants with a visual acuity of better than 0.63, 14.56 ± 3.76 in the amblyopic group, and 15.14 ± 3.65 in participants with a visual acuity of 0.63 or worse without amblyopia. In a linear regression model, sex, and socioeconomic status significantly predicted planning performance (P <.0001), whereas amblyopic status did not (P = .20). CONCLUSIONS: Amblyopia may affect visuospatial perception, but no such relationships could be found for higher cognitive functions that strongly depend on visuospatial processing. Thus, in adulthood, individuals with amblyopia are unaffected in their visuospatial cognitive abilities, as required by the ToL test. [J Pediatr Ophthalmol Strabismus. 2019;56(6):397-401.].
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Ambliopía/epidemiología , Cognición/fisiología , Percepción Espacial/fisiología , Visión Binocular/fisiología , Agudeza Visual , Adulto , Ambliopía/diagnóstico , Ambliopía/fisiopatología , Femenino , Alemania/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Factores SocioeconómicosRESUMEN
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 total of 10% of each item had missing values. The ability-estimates from the IRT model and the simple sum score served as criteria for evaluating the results. RESULTS: The ability-estimate from the IRT model outperformed the sum score when there were many items, skewed distributed items, and the item loadings were heterogeneous and high. The sum score outperformed the ability-estimate when there were few items, nonskewed items, and homogeneous and low item loadings. However, convergence rates were partly low in small samples. Correlated errors affected, both negatively, the ability-estimate and the sum score. CONCLUSION: With skew item distributions and heterogeneous item loadings, utilizing an IRT model is recommended. However, with few items, many cases are required, conversely, with few cases many items. With few items and few cases, the sum score performs better.
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Análisis de Regresión , Tamaño de la Muestra , Análisis de Varianza , Simulación por Computador , Correlación de Datos , HumanosAsunto(s)
Angioedemas Hereditarios/etiología , Angioedemas Hereditarios/metabolismo , Bradiquinina/metabolismo , Quininógenos/genética , Mutación , Dominios y Motivos de Interacción de Proteínas , Secuencia de Aminoácidos , Bradiquinina/química , Proteína Inhibidora del Complemento C1/genética , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Linaje , ProteolisisRESUMEN
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 with pdC1-INH (Berinert® (CSL Behring, Marburg, Germany)). The time between injection and complete resolution of symptoms and treatment effectiveness was provided by the patients. RESULTS: The following underlying disorders were present: monoclonal gammopathy of undetermined significance (47.7%), non-Hodgkin lymphoma (27.3%), anti-C1-INH autoantibodies alone (11.4%), and other conditions (4.5%). In 9.1% patients, no associated disorder could be found. AAE-C1-INH led to the detection of lymphoma in 75% of patients with the malignancy. Treatment with pdC1-INH shortened attacks by an average (SD) 54.4 (± 32.8) hours (P < 0.0001). The earlier the attack was treated, the shorter the time between injection and resolution of symptoms (P = 0.0149). A total of 3553 (97.7%) of the 3636 attacks were effectively treated with pdC1-INH as assessed by the patient. The mean (SD) dose per-attack was 787 (± 442) U. pdC1-INH was effective in 1246 (93.8%) of 1329 attacks in 8 patients with anti-C1-INH autoantibodies and in 344 (99.4%) of 346 attacks in 6 patients without autoantibodies. The average (SD) dose per effectively treated attack was 1238.4 (± 578.2) U in patients with anti-C1-INH autoantibodies and 510.2 (± 69.1) U in patients without autoantibodies. CONCLUSIONS: pdC1-INH is highly effective in treating AAE-C1-INH patients and is also effective in the vast majority of attacks in patients with anti-C1-INH autoantibodies. It is fast-acting and reduces attack duration.
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Angioedema/tratamiento farmacológico , Angioedema/etiología , Angioedemas Hereditarios/complicaciones , Proteína Inhibidora del Complemento C1/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Angioedema/genética , Angioedemas Hereditarios/patología , Femenino , Alemania , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Chronic pain and especially back pain rank among the most meaningful medical conditions worldwide. This leads to extensive costs in medical care systems. In about 80-85% of cases there is no morphologic evidence for a possible pain etiology, hence such forms are called "non-specific back pain". Therapies with a pure focus on symptomatic aspects are not effective to treat non-specific pain. The origin of chronic back pain can be best explained via a multi causal mechanism with a combination of bio-psycho-social, biographical, neurobiological, genetic, and cognitive factors. Since various aspects of the pain genesis have to be considered, multidisciplinary treatment shows much better results.
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Dolor de Espalda/psicología , Dolor de Espalda/terapia , Trastornos Somatomorfos/psicología , Trastornos Somatomorfos/terapia , Dolor de Espalda/rehabilitación , Terapia Combinada , Femenino , Adhesión a Directriz , Humanos , Comunicación Interdisciplinaria , Colaboración Intersectorial , Masculino , Grupo de Atención al Paciente , Psicología , Trastornos Somatomorfos/rehabilitaciónRESUMEN
The role of childhood stress in symptoms of social phobia and agoraphobia in adulthood Objectives: Anxiety disorders are among themost prevalent mental disorders inmodern times. Childhood stress constitutes a risk factor for their occurrence in adulthood. METHODS: In a sample of 1000 Polish and German probands recruited via the internet, we studied the associations of nine childhood stress factors (physical abuse, periodic harsh physical punishment, threat of physical violence, sexual abuse, neglect, long-term absence of a parent, violence between parents, arguments between parents and financial hardship) with later agoraphobic and sociophobic symptoms. RESULTS: Especially neglect showed a strong association to both forms of phobic symptoms. Threat of physical violence aswell as periodic harsh physical punishment and threat of physical violence also showed an association to both forms of phobic symptoms. CONCLUSIONS: The study revealed plausible associations for both forms of anxiety and various childhood adversities, though the amounts of explained variances were generally small.
Asunto(s)
Agorafobia/psicología , Acontecimientos que Cambian la Vida , Fobia Social/psicología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Agorafobia/diagnóstico , Agorafobia/epidemiología , Niño , Maltrato a los Niños/diagnóstico , Maltrato a los Niños/psicología , Preescolar , Estudios Transversales , Violencia Doméstica/psicología , Correo Electrónico , Conflicto Familiar/psicología , Femenino , Alemania , Humanos , Masculino , Persona de Mediana Edad , Fobia Social/diagnóstico , Fobia Social/epidemiología , Polonia , Estrés Psicológico/complicaciones , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Problematic internet use may lead to serious psychosocial dysfunction. Recent studies have found comparable prevalence in both male and female adolescents. We pursue the neglected questions how male and female adolescents differ regarding their patterns of internet use and how gender, peer attachment and patterns of use are related to pathological internet use. In 2410 adolescents (1307 girls and 1103 boys) aged 12-18 years from different types of school we assessed peer attachment, frequency and use of eight specific applications and indicators of pathological internet use. Three patterns of internet use, 'social'; 'sex and games" and 'functional' were identified and connections between variables were modeled by ordered sequences of regression. We found that problematic internet use-sex and games as well as social usage-was more prevalent in boys. Insecure peer attachment predicted problematic internet use in both sexes. Also, excessive usage of internet games and sex mediated the influence of peer attachment insecurity on problematic internet use, but only for boys. Our study identified that adolescents with insecure peer attachment are at higher risk for problematic internet use. With regard to specific types of internet use, the consumption of online games and sex was identified as risk factor in boys with increasing age. Further studies are needed to understand and possibly subgroup problematic internet use behavior in girls. Our findings suggest that increasing the quality of peer relationships may be promising approach in the prevention and treatment of problematic internet use.