The influence of different diagnostic approaches on familial aggregation of spelling disability

1999 ◽  
Vol 8 (S3) ◽  
pp. S13-S20 ◽  
Author(s):  
Helmut Remschmidt ◽  
K. Hennighausen ◽  
G. Schulte-Körne ◽  
W. Deimel ◽  
A. Warnke
Keyword(s):  
Familial Aggregation ◽  
Spelling Disability ◽  
Diagnostic Approaches

Familial Aggregation of Spelling Disability

1996 ◽  
Vol 37 (7) ◽  
pp. 817-822 ◽  
Author(s):  
Gerd Schulte-Körne ◽  
Wolfgang Deimel ◽  
Katarina Müller ◽  
Cornelius Gutenbrunner ◽  
Helmut Remschmidt
Keyword(s):  
Familial Aggregation ◽  
Spelling Disability

scholarly journals Sex-Dependent Aggregation of Tinnitus in Swedish Families

2020 ◽  
Vol 9 (12) ◽  
pp. 3812
Author(s):  
Natalia Trpchevska ◽  
Jan Bulla ◽  
Matilda Prada Hellberg ◽  
Niklas K. Edvall ◽  
Andra Lazar ◽  
...  
Keyword(s):  
Familial Aggregation ◽  
Recurrence Risk ◽  
Therapeutic Interventions ◽  
Dependent Manner ◽  
Adoption Studies ◽  
Genetic Studies ◽  
Bootstrap Approach ◽  
Diagnostic Approaches ◽  
Percentile Bootstrap ◽  
Severe Tinnitus

Twin and adoption studies point towards a genetic contribution to tinnitus; however, how the genetic risk applies to different forms of tinnitus is poorly understood. Here, we perform a familial aggregation study and determine the relative recurrence risk for tinnitus in siblings (λs). Four different Swedish studies (N = 186,598) were used to estimate the prevalence of self-reported bilateral, unilateral, constant, and severe tinnitus in the general population and we defined whether these 4 different forms of tinnitus segregate in families from the Swedish Tinnitus Outreach Project (STOP, N = 2305). We implemented a percentile bootstrap approach to provide accurate estimates and confidence intervals for λs. We reveal a significant λs for all types of tinnitus, the highest found being 7.27 (95% CI (5.56–9.07)) for severe tinnitus, with a higher susceptibility in women (10.25; 95% CI (7.14–13.61)) than in men (5.03; 95% CI (3.22–7.01)), suggesting that severity may be the most genetically influenced trait in tinnitus in a sex-dependent manner. Our findings strongly support the notion that genetic factors impact on the development of tinnitus, more so for severe tinnitus. These findings highlight the importance of considering tinnitus severity and sex in the design of large genetic studies to optimize diagnostic approaches and ultimately improve therapeutic interventions.

Panic disorder in women: a population-based twin study

1993 ◽  
Vol 23 (2) ◽  
pp. 397-406 ◽  
Author(s):  
Kenneth S. Kendler ◽  
Michael C. Neale ◽  
Ronald C. Kessler ◽  
Andrew C. Heath ◽  
Lindon J. Eaves
Keyword(s):  
Panic Disorder ◽  
Genetic Factors ◽  
Familial Aggregation ◽  
Threshold Model ◽  
Population Based ◽  
Severe Form ◽  
Clinical Samples ◽  
Psychiatric Interview ◽  
Diagnostic Approaches ◽  
Broad Level

SynopsisPrevious studies based on probands from clinical samples suggest that panic disorder aggregates strongly in families and may be due to a highly penetrant single major locus. In this study we examine panic disorder as assessed at blind, structured psychiatric interview in 2163 women from a population-based twin registry. DSM-III-R diagnoses were assigned at a narrow and at a broad level both by clinician review and by computer algorithm. The familial aggregation of panic disorder in this sample was only modest. The relatively small number of affected individuals prevented a definitive resolution of competing genetic and non-genetic models of familial transmission. Although there was some inconsistency across diagnostic approaches, most results suggested that the familial aggregation of panic disorder was due largely to genetic factors. Using a multifactorial-threshold model, the best estimates of the heritability of liability ranged from 30 to 40%. From a familial perspective, panic disorder with phobic avoidance appears to represent a more severe form of the syndrome than panic disorder without avoidance. Our results, which suggest that in the general population panic disorder is only a moderately heritable condition, are at variance with results from several previous investigations based on clinically ascertained samples.

Linitis Plastica of The Stomach: A Review

2020 ◽  
Vol 22 (2) ◽  
pp. 125-138
Author(s):  
Md Mizanur Rahman
Keyword(s):  
Gastric Cancer ◽  
Treatment Outcome ◽  
Surgical Resection ◽  
Linitis Plastica ◽  
Diffuse Gastric Cancer ◽  
Biological Behaviour ◽  
Desmoplastic Reaction ◽  
The Poor ◽  
Diagnostic Approaches ◽  
Poor Outcomes

Linitis plastica (LP) is a particular subtype of diffuse gastric cancer and is thought to have a separate entity in respect with its biological behaviour, pathology, presentation and treatment outcome. The poor prognosis of LP gastric cancer is due primarily to its advanced stage at diagnosis. The characteristic histopathological feature of this entity is cellular spread to the submucosa and stroma with minimal mucosal alterations accompanied by an excessive desmoplastic reaction. Despite recent research on alternative therapies, surgical resection appears the only potentially curative approach. Patient selection and multidisciplinary management are paramount when considering surgical resection in patients with gastric LP. The operative approach in patients with LP has historically been questioned because of the poor outcomes. The aim of this review is to highlight different dimension of linitis plastica stomach in respect to its definition, classification, clinico-pathological characters, diagnostic approaches and treatment outcome. Journal of Surgical Sciences (2018) Vol. 22 (2) : 125-138

Multiple diagnostic approaches to palpable breast mass

1985 ◽  
Vol 21 (6) ◽  
pp. 923
Author(s):  
S Y Chin ◽  
K H Kim ◽  
N M Moon ◽  
Y K Kim ◽  
J J Jang
Keyword(s):  
Breast Mass ◽  
Diagnostic Approaches ◽  
Palpable Breast

Inflammatory disease of the womans reproductive system: modern trends in diagnosis and therapy (literature review)

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (6) ◽  
pp. 35-41
Author(s):  
T Yu Pestrikova ◽  
I V Yurasov ◽  
E A Yurasova
Keyword(s):  
Genital Tract ◽  
Inflammatory Diseases ◽  
Diagnosis And Treatment ◽  
Long Term Results ◽  
Modern Approach ◽  
Pelvic Organs ◽  
Results Of Treatment ◽  
Number Of Patients ◽  
Diagnostic Approaches

Medical, social and economic relevance of inflammatory diseases of the woman's reproductive organs requires a very careful attitude to the diagnosis and treatment of this pathology. The number of patients with genital infections and inflammatory diseases of the pelvic organs can takes the first place in structure of gynecological morbidity, and is 60.4-65.0%, and this fact is not unique to Russia, but all over the world. Incidence rate of inflammatory diseases of the pelvic organs in the first decade of the twenty-first century is increased at 1.4 times in patients who are from 18 to 24 years old and at 1.8 times in patients aged 25-29 years. At the same time, the cost of diagnosis and treatment has increased, reaching 50-60% of the total cost of providing gynecological care for population. The inflammatory diseases of pelvic organs are a collective concept. It includes of various nosological forms. There are numerous contradictions in the views on diagnostic approaches and treatment tactics, the nature of screening and control over the long-term results of treatment, the etiological and pathogenetic significance of various microorganisms found in the genital tract in patients with inflammatory diseases of the pelvic organs. Currently, there are many opinions among specialists about diagnostic approaches and treatment tactics, the type of screening and monitoring the long-term results of treatment, the etiological and pathogenetic role of various microorganisms which can be found in the genital tract in patients with inflammatory diseases. This review presents the results of a modern approach to the diagnosis, management and rehabilitation of patients with inflammatory diseases of the pelvic organs.

Microbiota, Immune System and Autism Spectrum Disorders: An Integrative Model towards Novel Treatment Options

2020 ◽  
Vol 27 (31) ◽  
pp. 5119-5136 ◽  
Author(s):  
Barbara Carpita ◽  
Donatella Marazziti ◽  
Lionella Palego ◽  
Gino Giannaccini ◽  
Laura Betti ◽  
...  
Keyword(s):  
Immune System ◽  
Familial Aggregation ◽  
Treatment Options ◽  
Autism Spectrum ◽  
Integrative Model ◽  
Neural Basis ◽  
Integrative Framework ◽  
Intermediate Phenotypes ◽  
Close Relatives

Background: Autism Spectrum Disorder (ASD) is a condition strongly associated with genetic predisposition and familial aggregation. Among ASD patients, different levels of symptoms severity are detectable, while the presence of intermediate autism phenotypes in close relatives of ASD probands is also known in literature. Recently, increasing attention has been paid to environmental factors that might play a role in modulating the relationship between genomic risk and development and severity of ASD. Within this framework, an increasing body of evidence has stressed a possible role of both gut microbiota and inflammation in the pathophysiology of neurodevelopment. The aim of this paper is to review findings about the link between microbiota dysbiosis, inflammation and ASD. Methods: Articles ranging from 1990 to 2018 were identified on PUBMED and Google Scholar databases, with keyword combinations as: microbiota, immune system, inflammation, ASD, autism, broad autism phenotype, adult. Results: Recent evidence suggests that microbiota alterations, immune system and neurodevelopment may be deeply intertwined, shaping each other during early life. However, results from both animal models and human samples are still heterogeneous, while few studies focused on adult patients and ASD intermediate phenotypes. Conclusion: A better understanding of these pathways, within an integrative framework between central and peripheral systems, might not only shed more light on neural basis of ASD symptoms, clarifying brain pathophysiology, but it may also allow to develop new therapeutic strategies for these disorders, still poorly responsive to available treatments.

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