Autosomal recessive congenital ichthyoses (ARCI) in a “bathing‐suit” distribution: progression over time

2021 ◽  
Author(s):  
María Arteaga‐Henríquez ◽  
Leonie Frommherz ◽  
Judith Fischer ◽  
Cristina Has
Keyword(s):  
Autosomal Recessive ◽  
Bathing Suit ◽  
Over Time

scholarly journals Allgrove syndrome: how to suspect the problem? Endocrinologists experience

2020 ◽  
Vol 66 (1) ◽  
pp. 64-69
Author(s):  
Natalya I. Volkova ◽  
Ilya Y. Davidenko ◽  
Igor B. Reshetnikov ◽  
Snezhana S. Brovkina
Keyword(s):  
Adrenal Insufficiency ◽  
Neurological Disorders ◽  
Autosomal Recessive ◽  
Clinical Observation ◽  
Pathogenic Mutation ◽  
Multisystem Disease ◽  
Allgrove Syndrome ◽  
Interdisciplinary Interaction ◽  
Over Time

Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN. Here is a clinical observation of a patient with Allgrove syndrome. The patient had a typical clinic: alacrimia, achalasia, adrenal insufficiency, convulsive syndrome. However, a neurological disorder, manifested by convulsive syndrome, passed with time. Despite the full clinical picture, the diagnosis was made only after 14 years. Allgrove syndrome was verified through genetic analysis revealed a pathogenic mutation c.43CT gene AAAS. Progression of the severity of alacrimia and need of glucocorticoids over time was noted. We shown the difficulty of diagnosis is due to the lack of awareness of clinicians about the disease, the importance of interdisciplinary interaction, as well as the need for follow-up of such patients.

scholarly journals Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Dharshini Sathishkumar ◽  
Dincy Peter ◽  
Susanne Pulimood ◽  
Henning Wiegmann ◽  
Frederic Valentin ◽  
...  
Keyword(s):  
Rare Variant ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Temperature Sensitive ◽  
Congenital Ichthyosis ◽  
Indian Patients ◽  
Transglutaminase 1 ◽  
Bathing Suit ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Temperature Sensitive Phenotype

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

Five novel ALMS1 gene mutations in six patients with Alström syndrome

2018 ◽  
Vol 31 (6) ◽  
pp. 681-687 ◽  
Author(s):  
Suna Kılınç ◽  
Didem Yücel-Yılmaz ◽  
Aylin Ardagil ◽  
Süheyla Apaydın ◽  
Diana Valverde ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Compound Heterozygous ◽  
Novel Mutations ◽  
Alström Syndrome ◽  
Mutational Screening ◽  
Clinical Presentations ◽  
Alstrom Syndrome ◽  
Over Time

Abstract Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition. Results: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously. Conclusions: Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.

Social transmission bias and the cultural evolution of folk-economic beliefs

2018 ◽  
Vol 41 ◽  
Author(s):  
David Hirshleifer ◽  
Siew Hong Teoh
Keyword(s):  
Cultural Evolution ◽  
Social Transmission ◽  
Cognitive Approach ◽  
Economic Problems ◽  
Economic Attitudes ◽  
The Social ◽  
Economic Beliefs ◽  
Over Time

AbstractEvolved dispositions influence, but do not determine, how people think about economic problems. The evolutionary cognitive approach offers important insights but underweights the social transmission of ideas as a level of explanation. The need for asocialexplanation for the evolution of economic attitudes is evidenced, for example, by immense variations in folk-economic beliefs over time and across individuals.

Articulatory Generalization in Two Word-Medial, Ambisyllabic Contexts

1988 ◽  
Vol 19 (3) ◽  
pp. 251-258 ◽  
Author(s):  
Virginia I. Wolfe ◽  
Suzanne D. Blocker ◽  
Norma J. Prater
Keyword(s):  
Common View ◽  
Perceptual Salience ◽  
The Common ◽  
Unitary Concept ◽  
Over Time

Articulatory generalization of velar cognates /k/, /g/ in two phonologically disordered children was studied over time as a function of sequential word-morpheme position training. Although patterns of contextual acquisition differed, correct responses to the word-medial, inflected context (e.g., "picking," "hugging") occurred earlier and exceeded those to the word-medial, noninflected context (e.g., "bacon," "wagon"). This finding indicates that the common view of the word-medial position as a unitary concept is an oversimplification. Possible explanations for superior generalization to the word-medial, inflected position are discussed in terms of coarticulation, perceptual salience, and the representational integrity of the word.

Treatment Fidelity Procedures for an Aphasia Intervention Within a Randomized Controlled Trial: Design, Feasibility, and Results

2020 ◽  
Vol 29 (1S) ◽  
pp. 412-424
Author(s):  
Elissa L. Conlon ◽  
Emily J. Braun ◽  
Edna M. Babbitt ◽  
Leora R. Cherney
Keyword(s):  
Randomized Controlled Trial ◽  
Controlled Trial ◽  
Treatment Protocol ◽  
Treatment Fidelity ◽  
Protocol Adherence ◽  
Study Condition ◽  
Randomized Controlled ◽  
Aphasia Therapy ◽  
Percent Accuracy ◽  
Over Time

Purpose This study reports on the treatment fidelity procedures implemented during a 5-year randomized controlled trial comparing intensive and distributed comprehensive aphasia therapy. Specifically, the results of 1 treatment, verb network strengthening treatment (VNeST), are examined. Method Eight participants were recruited for each of 7 consecutive cohorts for a total of 56 participants. Participants completed 60 hr of aphasia therapy, including 15 hr of VNeST. Two experienced speech-language pathologists delivered the treatment. To promote treatment fidelity, the study team developed a detailed manual of procedures and fidelity checklists, completed role plays to standardize treatment administration, and video-recorded all treatment sessions for review. To assess protocol adherence during treatment delivery, trained research assistants not involved in the treatment reviewed video recordings of a subset of randomly selected VNeST treatment sessions and completed the fidelity checklists. This process was completed for 32 participants representing 2 early cohorts and 2 later cohorts, which allowed for measurement of protocol adherence over time. Percent accuracy of protocol adherence was calculated across clinicians, cohorts, and study condition (intensive vs. distributed therapy). Results The fidelity procedures were sufficient to promote and verify a high level of adherence to the treatment protocol across clinicians, cohorts, and study condition. Conclusion Treatment fidelity strategies and monitoring are feasible when incorporated into the study design. Treatment fidelity monitoring should be completed at regular intervals during the course of a study to ensure that high levels of protocol adherence are maintained over time and across conditions.

Percutaneous Tracheostomy: A Multidisciplinary Approach

2008 ◽  
Vol 18 (2) ◽  
pp. 87-98 ◽  
Author(s):  
Vinciya Pandian ◽  
Thai Tran Nguyen ◽  
Marek Mirski ◽  
Nasir Islam Bhatti
Keyword(s):  
Health Care ◽  
Quality Assurance ◽  
Data Collection ◽  
Health Care Professionals ◽  
Multidisciplinary Approach ◽  
Percutaneous Tracheostomy ◽  
Johns Hopkins Hospital ◽  
Prospective Data ◽  
Comprehensive Service ◽  
Over Time

Abstract The techniques of performing a tracheostomy has transformed over time. Percutaneous tracheostomy is gaining popularity over open tracheostomy given its advantages and as a result the number of bedside tracheostomies has increased necessitating the need for a Percutaneous Tracheostomy Program. The Percutaneous Tracheostomy Program at the Johns Hopkins Hospital is a comprehensive service that provides care to patients before, during, and after a tracheostomy with a multidisciplinary approach aimed at decreasing complications. Education is provided to patients, families, and health-care professionals who are involved in the management of a tracheostomy. Ongoing prospective data collection serves as a tool for Quality Assurance.

High-Risk Youth Behaviors Decreasing Over Time

2008 ◽  
Vol 42 (7) ◽  
pp. 26-27
Author(s):  
MARY ELLEN SCHNEIDER
Keyword(s):  
High Risk ◽  
High Risk Youth ◽  
Over Time ◽  
Youth Behaviors
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