scholarly journals Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2006 ◽  
Vol 91 (8) ◽  
pp. 2843-2850 ◽  
Author(s):  
Jaakko Perheentupa
Keyword(s):  
Hereditary Disease ◽  
Initial Manifestation ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrinopathy ◽  
Apparent Mineralocorticoid Excess ◽  
Adrenocortical Failure ◽  
The Many ◽  
Classical Triad ◽  
Mutation Assay ◽  
Age Range

Abstract Context: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is known as a rare hereditary disease with classic triad of mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure, two of which, diagnostic dyad, are required for the diagnosis. Evidently many patients suffer unrecognized because the condition is more variable and complex. Objective: The objective of the study was to describe the variability of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy for promoting recognition and adequate follow-up of patients. Setting: The Finnish series of patients is the largest internationally. Patients: The study population was all 91 known Finnish patients. Results: Besides the classical triad, a dozen autoimmune endocrine and other components occurred variably, several of them dangerous. The initial manifestation appeared within the age range of 0.2–18 yr, mucocutaneous candidiasis being part of it in 60% of the patients, hypoparathyroidism in 32%, and adrenocortical failure in 5%. But 23% of the patients had one to six other components before the diagnostic dyad: hepatitis, keratoconjunctivitis, chronic diarrhea, periodic rash with fever. The dyad appeared 0.2–20 yr later. Prevalence of most components increased with age, diabetes mellitus, hypothyroidism, and testicular failure becoming common toward middle age. Tubulointerstitial nephritis occurred in 9% of the patients, apparent mineralocorticoid excess in 9%, asplenia in 19% of adults, and oral or esophageal squamous cell carcinoma in 10% of patients older than 25 yr. Conclusions: Any child or young adult with one of the many disease components should be examined for others and consideration of AIRE mutation assay.

Developmental Patterns of Conceptual Styles

1971 ◽  
Vol 29 (2) ◽  
pp. 635-649
Author(s):  
W. E. Penk
Keyword(s):  
Relative Efficiency ◽  
Growth Patterns ◽  
Rate Of Change ◽  
Developmental Changes ◽  
Cognitive Measures ◽  
Developmental Patterns ◽  
Conceptual Behavior ◽  
The Many ◽  
Age Range ◽  
Continuity And Discontinuity

Two differing interpretations of maturation in children's conceptual behavior—continuity and discontinuity—were compared for their relative efficiency in predicting, among the same children, developmental changes in two sets of cognitive measures expected to demonstrate either continuity- or discontinuity-like growth patterns. Five groups of Ss ( N = 100), 7- to 11-yr.-old, were selected from an age range during which major cognitive shifts were hypothesized by theorists of the discontinuity persuasion. Growth patterns of 48 conceptual style measures were analyzed by trend analyses. Neither the discontinuity nor the continuity mode of interpretation alone accounted for the many types of growth patterns empirically established. A rationally derived system for classifying types of developmental trends was proposed and devised, based on multicriterial analyses of three basic components determining curve forms (i.e., predominance, directionality, and rate of change).

scholarly journals Free Flaps in a Resource Constrained Environment: A Five-Year Experience—Outcomes and Lessons Learned

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Wanjala F. Nangole ◽  
Stanley Khainga ◽  
Joyce Aswani ◽  
Loise Kahoro ◽  
Adelaine Vilembwa
Keyword(s):  
Free Flaps ◽  
Developed Countries ◽  
Tertiary Hospital ◽  
Lessons Learned ◽  
Resource Constrained ◽  
Free Flap Surgery ◽  
Flap Monitoring ◽  
The Many ◽  
A Prospective Study ◽  
Age Range

Introduction. Free flap surgery is a routine procedure in many developed countries with good surgical outcomes. In many developing countries, however, these services are not available. In this paper, we audit free flaps done in a resource constrained hospital in Kenya. Objective. This is a five-year audit of free flaps done in a tertiary hospital in Kenya, between 2009 and 2014. Materials and Methods. This was a prospective study of patients operated on with free flaps between 2009 and 2014. Results. A total of one hundred and thirty-two free flaps in one hundred and twenty patients were performed during the five-year duration. The age range was eight to seventy-two years with a mean of 47.2. All the flaps were done under loupe magnification. The overall flap success rate was eighty-nine percent. Conclusion. Despite the many limitations, free flaps in our setup were successful in the majority of patients operated on. Flap salvage was noted to be low due to infrequent flap monitoring as well as unavailability of theatre space. One therefore has to be meticulous during surgery to reduce any possibilities of reexploration.

scholarly journals Telemedicine Services for Emerging Adults with Type 1 Diabetes

2018 ◽  
Vol 14 (2) ◽  
pp. 73
Author(s):  
Neesha Ramchandani ◽  
Keyword(s):  
Type 1 Diabetes ◽  
Emerging Adults ◽  
Health Information ◽  
Research Needs ◽  
Diverse Populations ◽  
Developmental Needs ◽  
The Many ◽  
Competing Priorities ◽  
Age Range

Emerging adults with type 1 diabetes (T1D) often find it challenging to manage their diabetes well due to the many competing priorities they are juggling during this time. The majority of emerging adults (72%) are already looking for health information online, so telemedicine may be an avenue to explore with them. Telemedicine services for individuals with T1D are becoming increasingly popular and have been found to be beneficial for those who use them. However, there are very few multi-component telemedicine services available for individuals with T1D, and none of them provide a comprehensive technology-based system. Additionally, while these multi-component T1D telemedicine systems often included emerging adults in the group under study, the average age of the study subjects was usually above the age range of emerging adulthood. This suggests that specific developmental needs of emerging adults are not being addressed by these telemedicine systems, nor are the issues faced by diverse populations. More research needs to be done to address which telemedicine services, if any, would be beneficial for this especially vulnerable population.

scholarly journals Multiple Nail Candidosis in a Child with APECED Syndrome

2019 ◽  
Vol 4 (1) ◽  
pp. 01-01
Author(s):  
Chaouche M ◽  
Dah Cherif A ◽  
Barbach Y ◽  
Gallouj S ◽  
Mernissi FZ
Keyword(s):  
Early Childhood ◽  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Tissue Specific ◽  
Rare Autosomal Recessive Disorder ◽  
Mucocutaneous Candidiasis ◽  
Classic Triad ◽  
Autoimmune Polyendocrinopathy ◽  
Dermatological Disorders

The APECED syndrome (autoimmune polyendocrinopathy, candidosis, ectodermal dystrophy) is a rare autosomal recessive disorder that develops in early childhood and results in tissue-specific multiorgan autoimmunity, leading to the hypofunction of multiple glands. Is clinically defined as the presence of at least two components of the classic triad of hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. We report a case in a child, illustrating the importance of dermatological disorders.

scholarly journals Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

2010 ◽  
Vol 207 (2) ◽  
pp. 299-308 ◽  
Author(s):  
Kai Kisand ◽  
Anette S. Bøe Wolff ◽  
Katarina Trebušak Podkrajšek ◽  
Liina Tserel ◽  
Maire Link ◽  
...  
Keyword(s):  
Candida Albicans ◽  
Tolerance Induction ◽  
Chronic Mucocutaneous Candidiasis ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome ◽  
Self Tolerance ◽  
Multicenter Survey ◽  
Autoimmune Polyendocrinopathy ◽  
Patient Groups ◽  
Endocrine Features

Chronic mucocutaneous candidiasis (CMC) is frequently associated with T cell immunodeficiencies. Specifically, the proinflammatory IL-17A–producing Th17 subset is implicated in protection against fungi at epithelial surfaces. In autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED, or autoimmune polyendocrine syndrome 1), CMC is often the first sign, but the underlying immunodeficiency is a long-standing puzzle. In contrast, the subsequent endocrine features are clearly autoimmune, resulting from defects in thymic self-tolerance induction caused by mutations in the autoimmune regulator (AIRE). We report severely reduced IL-17F and IL-22 responses to both Candida albicans antigens and polyclonal stimulation in APECED patients with CMC. Surprisingly, these reductions are strongly associated with neutralizing autoantibodies to IL-17F and IL-22, whereas responses were normal and autoantibodies infrequent in APECED patients without CMC. Our multicenter survey revealed neutralizing autoantibodies against IL-17A (41%), IL-17F (75%), and/ or IL-22 (91%) in >150 APECED patients, especially those with CMC. We independently found autoantibodies against these Th17-produced cytokines in rare thymoma patients with CMC. The autoantibodies preceded the CMC in all informative cases. We conclude that IL-22 and IL-17F are key natural defenders against CMC and that the immunodeficiency underlying CMC in both patient groups has an autoimmune basis.

scholarly journals Intracranial Calcifications in Autoimmune Polyendocrine Ectodermal Dystrophy Syndrome (APECED): About A Case Report

2021 ◽  
pp. 1-3
Author(s):  
Benfaddoul O ◽  
◽  
Zouita B ◽  
El azzouzi B ◽  
Basraoui N ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Chronic Mucocutaneous Candidiasis ◽  
Type I ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrinopathy ◽  
Life Threatening ◽  
Autoimmune Polyglandular Syndrome Type

Autoimmune polyendocrinopathy ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS I), is an uncommon, but debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE), It is characterized by a broad and diverse clinical spectrum which can lead to severe metabolic alterations and eventually life-threatening events. Hypoparathyroidism is one of the major criteria for clinical diagnosis, in addition to chronic mucocutaneous candidiasis and autoimmune adrenal insufficiency. This component is responsible for the forming of brain calcifications which tend to have a characteristic predilection for the basal ganglia. In this article, we report an additional case to the literature and provide a literature review of the expanding radiological spectrum of this syndrome

scholarly journals Learn to Speak Dance: A Guide to Creating, Performing & Promoting Your Moves by A.-M. Williams

2012 ◽  
Vol 2 (2) ◽  
Author(s):  
Trish Chatterley
Keyword(s):  
Health Sciences ◽  
After School ◽  
Belly Dance ◽  
Dance Teacher ◽  
University Of Alberta ◽  
Young Readers ◽  
Wide Range ◽  
The Many ◽  
The University ◽  
Age Range

Williams, Ann-Marie. Learn to Speak Dance: A Guide to Creating, Performing & Promoting Your Moves. Toronto: Owlkids Books, 2011. Print. Following on the success of Learn to Speak Music by John Crossingham, dancer and dance teacher Ann-Marie Williams has compiled a second volume in the Learn to Speak series that explores the many and varied aspects of dance. The book begins with an explanation of what dance is and why we do it, then takes the reader through the stages of starting out in dance, setting up your own dance group, developing choreography, performing, and promoting your work. It ends with a brief description of a small sampling of dance styles including belly dance, Bollywood, and Broadway. Scattered throughout are quotes from current professional dancers and dance judges (mainly Canadians!) representing a wide range of styles, as well as recommendations for movies and dance videos to watch that each provide excellent examples of different elements of the dance world. The book is packed full with fun illustrations with simple, rotating colour schemes. Jeff Kulak’s drawings are sometimes abstract, sometimes cartoonlike, but unfortunately sometimes display very awkward-looking body positions and odd-looking faces. If readers are expecting a how-to guide about how to dance, they will be disappointed. Books are not the best format for learning how to move anyway. Instead, they will find more of a focus on the business side of things such as how to work well in a group, what happens backstage with lighting and sound, tips on developing a website and putting together a press release. The target age range of 9 to 13 might therefore be a bit young for this type of information. The content might be better suited for those in their upper teens who are setting up dance crews after school and are more likely to want to start organizing their own dance programs. The book aims to make dance accessible, and encourages kids with or without any experience to explore the various facets of dance. It takes a very supportive tone, and includes good suggestions for building confidence and finding your personal style. The author is definitely knowledgeable about dance and has a lot of excellent and informative advice to share. Young readers will likely require adult help, though, if trying to follow many of the recommendations. Recommended: 3 out of 4 stars Reviewer: Trish ChatterleyTrish is a Public Services Librarian for the John W. Scott Health Sciences Library at the University of Alberta. In her free time she enjoys dancing, gardening, and reading books of all types.

scholarly journals To Assess the Influence of Habitual Mouth Breathing and its Associated Taste Alterations

2020 ◽  
Vol 5 (4) ◽  
Author(s):  
Haramandeep Singh
Keyword(s):  
Animal Experiments ◽  
Health Condition ◽  
Mouth Breathing ◽  
Taste Perception ◽  
Taste Sensitivity ◽  
Minimum Concentration ◽  
The Mean ◽  
The Many ◽  
Inorganic Constituents ◽  
Age Range

Background: If the sense of taste is impaired, it may often negatively affect patient’s food intake, nutritional status and consequently health condition because it provides information about the food we eat. Aim and Objective: To study the influence of habitual mouth breathing and its associated taste alterations and also investigate the cause of this influence. Method and Methodology: Total eighty subjects were taken out of which forty healthy volunteers (male-26; female14) participated in this study. The mean age of these subjects was 25.6± 1.9 (SD) years (age range, 19-36 years). Furthermore forty subjects (male-21; female-19) with a habit of mouth breathing (MB) were taken. The mean age of these subjects was 29.5± 3.4 (SD) years (age range, 19-40 years). A taste threshold is the minimum concentration at which taste sensitivity to a particular substance or food can be perceived. The subjects were told to avoid eating or drinking anything, with the exception of water for 3 hours before evaluation. In addition, a complete Ear, Nose, Throat examination was performed. We carried out the chemical method of gustatory testing by using filter paper taste strips. This is a validated gustatory test, used to measure the gustatory sensitivity of the tongue for 5 tastants; sweet, sour, salty, bitter, and umami. We measured the recognition thresholds only on one side on the tongue either left or right. There are many factors that can alter taste senstivity. Considering these factors can help us better understand and ensure accurate sensory taste perception. Although there are a variety of factors but some that influence taste perception more than others are discussed in this study. These various effects are brought about by the many organic and inorganic constituents of saliva. In response to these variations in saliva, taste sensitivity may also fluctuate widely. Conclusion: Relationships between individual salivary constituents and certain taste substances have been explored in human psychophysical and animal experiments. However, there are many organic and inorganic salivary constituents whose effects on taste acuity have not yet been fully elucidated

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