scholarly journals Combination of Sjogren’s disease with autoimmune thyroiditis: A case history

1994 ◽  
Vol 40 (1) ◽  
pp. 30-31
Author(s):  
Ye A Sycheva ◽  
Ts S Khein
Keyword(s):  
Autoimmune Diseases ◽  
X Chromosome ◽  
Young Women ◽  
Case History ◽  
Autoimmune Thyroiditis ◽  
Endocrine Diseases ◽  
Thyroid Pathology ◽  
Organ Specific ◽  
Sjögren’S Disease

Therapists, including rheumatologists, often forget that many autoimmune diseases are combined with endocrine pathology, in particular with thyroid pathology. These cases, according to the classification of N. Smith and A. Steinberg, belong to the 5th class - class E of autoimmune diseases, which includes conditions that manifest several autoimmune diseases, both organ-specific and organ-specific. In the literature, cases of combinations of endocrine diseases with non-endocrine autoimmune are described. It was noted that they are most often found in young women, which are associated with the X chromosome. We give our own observation of a patient with Sjogren's disease in combination with thyroid pathology.

Holistic Communication Assessment for Young Children With Cleft Palate Using the International Classification of Functioning, Disability and Health:Children and Youth

2020 ◽  
Vol 51 (4) ◽  
pp. 914-938
Author(s):  
Anna Cronin ◽  
Sharynne McLeod ◽  
Sarah Verdon
Keyword(s):  
Young Children ◽  
Cleft Palate ◽  
Case History ◽  
Significant Others ◽  
International Classification ◽  
Assessment Tools ◽  
International Classification Of Functioning ◽  
Speech Language Pathologists ◽  
Holistic Assessment

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007 ) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices.

scholarly journals Escape from X Chromosome Inactivation and the Female Predominance in Autoimmune Diseases

2021 ◽  
Vol 22 (3) ◽  
pp. 1114
Author(s):  
Ali Youness ◽  
Charles-Henry Miquel ◽  
Jean-Charles Guéry
Keyword(s):  
Autoimmune Diseases ◽  
X Chromosome ◽  
Gene Dosage ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
X Chromosomes ◽  
Female Sex Hormones ◽  
Inactive X Chromosome ◽  
Immune Related Genes ◽  
Female Specific

Women represent 80% of people affected by autoimmune diseases. Although, many studies have demonstrated a role for sex hormone receptor signaling, particularly estrogens, in the direct regulation of innate and adaptive components of the immune system, recent data suggest that female sex hormones are not the only cause of the female predisposition to autoimmunity. Besides sex steroid hormones, growing evidence points towards the role of X-linked genetic factors. In female mammals, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in a cellular mosaicism, where about one-half of the cells in a given tissue express either the maternal X chromosome or the paternal one. X chromosome inactivation (XCI) is however not complete and 15 to 23% of genes from the inactive X chromosome (Xi) escape XCI, thereby contributing to the emergence of a female-specific heterogeneous population of cells with bi-allelic expression of some X-linked genes. Although the direct contribution of this genetic mechanism in the female susceptibility to autoimmunity still remains to be established, the cellular mosaicism resulting from XCI escape is likely to create a unique functional plasticity within female immune cells. Here, we review recent findings identifying key immune related genes that escape XCI and the relationship between gene dosage imbalance and functional responsiveness in female cells.

scholarly journals Non organ‐specific autoimmunity in adult 47,XXY Klinefelter patients and higher‐grade X‐chromosome aneuploidies

2021 ◽  
Author(s):  
Francesca Panimolle ◽  
Claudio Tiberti ◽  
Matteo Spaziani ◽  
Gloria Riitano ◽  
Giuseppe Lucania ◽  
...  
Keyword(s):  
X Chromosome ◽  
Organ Specific

The role of IL-12 in the induction of organ-specific autoimmune diseases

1995 ◽  
Vol 16 (8) ◽  
pp. 383-386 ◽  
Author(s):  
Sylvie Trembleau ◽  
Luciano Adorini ◽  
Tieno Germann ◽  
Maurice K. Gately
Keyword(s):  
Autoimmune Diseases ◽  
Organ Specific

Autoantibodies typical of non-organ-specific autoimmune diseases in HIV-seropositive patients

AIDS ◽  
1992 ◽  
Vol 6 (9) ◽  
pp. 933-942 ◽  
Author(s):  
Sylviane Muller ◽  
Pascale Richalet ◽  
Anne Laurent-Crawford ◽  
Samira Barakat ◽  
Yves Rivière ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Organ Specific ◽  
Hiv Seropositive

scholarly journals Defective Suppressor Function of Human CD4+ CD25+ Regulatory T Cells in Autoimmune Polyglandular Syndrome Type II

2004 ◽  
Vol 199 (9) ◽  
pp. 1285-1291 ◽  
Author(s):  
Martin A. Kriegel ◽  
Tobias Lohmann ◽  
Christoph Gabler ◽  
Norbert Blank ◽  
Joachim R. Kalden ◽  
...  
Keyword(s):  
T Cells ◽  
Regulatory T Cells ◽  
Autoimmune Diseases ◽  
Type I ◽  
Type Ii ◽  
Central Tolerance ◽  
Autoimmune Polyglandular Syndrome ◽  
Healthy Donors ◽  
Organ Specific ◽  
Autoimmune Polyglandular Syndrome Type

In autoimmune polyglandular syndromes (APS), several organ-specific autoimmune diseases are clustered. Although APS type I is caused by loss of central tolerance, the etiology of APS type II (APS-II) is currently unknown. However, in several murine models, depletion of CD4+ CD25+ regulatory T cells (Tregs) causes a syndrome resembling human APS-II with multiple endocrinopathies. Therefore, we hypothesized that loss of active suppression in the periphery could be a hallmark of this syndrome. Tregs from peripheral blood of APS-II, control patients with single autoimmune endocrinopathies, and normal healthy donors showed no differences in quantity (except for patients with isolated autoimmune diseases), in functionally important surface markers, or in apoptosis induced by growth factor withdrawal. Strikingly, APS-II Tregs were defective in their suppressive capacity. The defect was persistent and not due to responder cell resistance. These data provide novel insights into the pathogenesis of APS-II and possibly human autoimmunity in general.

scholarly journals Gender Specific Differences in Disease Susceptibility: The Role of Epigenetics

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 652
Author(s):  
Lucia Migliore ◽  
Vanessa Nicolì ◽  
Andrea Stoccoro
Keyword(s):  
Immune Responses ◽  
Autoimmune Diseases ◽  
X Chromosome ◽  
Complex Traits ◽  
Differential Susceptibility ◽  
X Chromosome Inactivation ◽  
Adverse Outcomes ◽  
Chromosome Inactivation ◽  
Gender Specific Differences ◽  
Gender Specific

Many complex traits or diseases, such as infectious and autoimmune diseases, cancer, xenobiotics exposure, neurodevelopmental and neurodegenerative diseases, as well as the outcome of vaccination, show a differential susceptibility between males and females. In general, the female immune system responds more efficiently to pathogens. However, this can lead to over-reactive immune responses, which may explain the higher presence of autoimmune diseases in women, but also potentially the more adverse effects of vaccination in females compared with in males. Many clinical and epidemiological studies reported, for the SARS-CoV-2 infection, a gender-biased differential response; however, the majority of reports dealt with a comparable morbidity, with males, however, showing higher COVID-19 adverse outcomes. Although gender differences in immune responses have been studied predominantly within the context of sex hormone effects, some other mechanisms have been invoked: cellular mosaicism, skewed X chromosome inactivation, genes escaping X chromosome inactivation, and miRNAs encoded on the X chromosome. The hormonal hypothesis as well as other mechanisms will be examined and discussed in the light of the most recent epigenetic findings in the field, as the concept that epigenetics is the unifying mechanism in explaining gender-specific differences is increasingly emerging.

Test Calibration for Categorical Classification

1949 ◽  
Vol 9 (3) ◽  
pp. 269-279 ◽  
Author(s):  
Gilbert L. Betts
Keyword(s):  
Case History ◽  
Quality Scale ◽  
Actual Use ◽  
Categorical Classification

The need for having tests calibrated on a quality scale arises from difficulties encountered in the classification of borderline personnel into predetermined categories. The proposed scale was studied experimentally from a succession of differently spaced criterion groups. As thus studied, its characteristics indicated that it was admirably suited for the purpose contemplated. The practicability of the scale was verified through actual use. A new test, called the Biographical Case History, was constructed, calibrated by reference to two contrasting criterion groups, and used successfully for measurement and classification purposes. The nature of further applications that may be made was illustrated.

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