The general status of rare disorders

2021 ◽  
Vol 5 (3-4) ◽  
pp. 97-98
Author(s):  
Alan K. Percy ◽  
Rashmi Gopal-Srivastava
Keyword(s):  
Rare Disorders ◽  
General Status

A Questionnaire Survey on General Status and Opinions about Clinical Mass Spectrometric Analysis in Korea (2018)

2019 ◽  
Vol 9 (3) ◽  
pp. 161
Author(s):  
Sung-Eun Cho ◽  
Hyojin Chae ◽  
Hyung-Doo Park ◽  
Sail Chun ◽  
Yong-Wha Lee ◽  
...  
Keyword(s):  
Questionnaire Survey ◽  
Mass Spectrometric ◽  
Mass Spectrometric Analysis ◽  
Spectrometric Analysis ◽  
General Status

scholarly journals Pulmonary manifestations of grade III lymphomatoid granulomatosis complicated by haemophagocytic lymphohistiocytosis: Rare disorders

eJHaem ◽  
2021 ◽  
Author(s):  
Claudette Phillips ◽  
Ayoma D. Attygalle ◽  
Sunil Iyengar ◽  
Andrew Wotherspoon ◽  
David Cunningham ◽  
...  
Keyword(s):  
Lymphomatoid Granulomatosis ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Rare Disorders ◽  
Pulmonary Manifestations ◽  
Grade Iii

scholarly journals Drugs for rare disorders

2017 ◽  
Vol 83 (8) ◽  
pp. 1607-1613 ◽  
Author(s):  
Serge Cremers ◽  
Jeffrey K. Aronson
Keyword(s):  
Rare Disorders

Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

Blood ◽  
2009 ◽  
Vol 113 (2) ◽  
pp. 458-461 ◽  
Author(s):  
Shinji Kunishima ◽  
Ryoji Kobayashi ◽  
Tomohiko J. Itoh ◽  
Motohiro Hamaguchi ◽  
Hidehiko Saito
Keyword(s):  
Chinese Hamster ◽  
Microtubule Assembly ◽  
Nucleotide Polymorphism ◽  
Rare Disorders ◽  
Single Nucleotide ◽  
Normal Platelet ◽  
Peripheral Blood Cd34 ◽  
Cd34 Cells ◽  
In Vitro Transfection

Abstract Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We identified the first TUBB1 mutation, R318W, in a patient with congenital macrothrombocytopenia. The patient was heterozygous for Q43P, but this single-nucleotide polymorphism (SNP) did not relate to macrothrombocytopenia. Although no abnormal platelet β1-tubulin localization/marginal band organization was observed, the level of β1-tubulin was decreased by approximately 50% compared with healthy controls. Large and irregular bleb protrusions observed in megakaryocytes derived from the patient's peripheral blood CD34+ cells suggested impaired megakaryocyte fragmentation and release of large platelets. In vitro transfection experiments in Chinese hamster ovary (CHO) cells demonstrated no incorporation of mutant β1-tubulin into microtubules, but the formation of punctuated insoluble aggregates. These results suggested that mutant protein is prone to aggregation but is unstable within megakaryocytes/platelets. Alternatively, mutant β1-tubulin may not be transported from the megakaryocytes into platelets. W318 β1-tubulin may interfere with normal platelet production, resulting in macrothrombocytopenia.

APPROACH TO THE PATIENT Fetal and neonatal thyroid dysfunction

2021 ◽  
Author(s):  
Juliane Léger ◽  
Clemence Delcour ◽  
Jean-Claude Carel
Keyword(s):  
Developed Countries ◽  
Antithyroid Drugs ◽  
Pituitary Hormone ◽  
Rare Disorders ◽  
Neonatal Hypothyroidism ◽  
Thyrotropin Receptor Antibodies ◽  
Neonatal Hyperthyroidism ◽  
History Of ◽  
Receptor Antibodies

Abstract Fetal and neonatal dysfunctions include rare serious disorders involving abnormal thyroid function during the second half of gestation, which may persist throughout life, as for most congenital thyroid disorders, or be transient, resolving in the first few weeks of life, as in autoimmune hyperthyroidism or hypothyroidism and some cases of congenital hypothyroidism (CH) with the thyroid gland in situ. Primary CH is diagnosed by neonatal screening, which has been implemented for 40 years in developed countries and should be introduced worldwide, as early treatment prevents irreversible neurodevelopmental delay.Central CH is a rarer entity occurring mostly in association with multiple pituitary hormone deficiencies. Other rare disorders impair the action of thyroid hormones. Neonatal Grave’s disease (GD) results from the passage of thyrotropin receptor antibodies (TRAb) across the placenta, from mother to fetus. It may affect the fetuses and neonates of mothers with a history of current or past GD, but hyperthyroidism develops only in those with high levels of stimulatory TRAb activity. The presence of antibodies predominantly blocking TSH receptors may result in transient hypothyroidism, possibly followed by neonatal hyperthyroidism, depending on the balance between the antibodies present. Antithyroid drugs taken by the mother cross the placenta, treating potential fetal hyperthyroidism,but they may also cause transient fetal and neonatal hypothyroidism. Early diagnosis and treatment are key to optimizing the child’s prognosis. This review focuses on the diagnosis and management of these patients during the fetal and neonatal periods. It includes the description of a case of fetal and neonatal autoimmune hyperthyroidism.

Neurogastroenterology

2015 ◽  
Author(s):  
Ronald F. Pfeiffer
Keyword(s):  
Wilson Disease ◽  
The Other ◽  
Neurologic Disease ◽  
Rare Disorders ◽  
Neurologic Diseases ◽  
Neurologic Dysfunction ◽  
Acquired Hepatocerebral Degeneration ◽  
Whipple Disease ◽  
Hepatocerebral Degeneration ◽  
Inflammatory Bowel

Contrary to what one may assume, neurology and gastroenterology are similar to each other in many ways. A process found in one system can also affect the other, whether it be gastrointestinal (GI) dysfunction present in neurologic diseases or neurologic dysfunction present in GI diseases. Several disorders from both fields of medicines are highlighted in this review, ranging from stroke, Parkinson disease, and multiple sclerosis (MS) as examples of GI dysfunction in neurologic disease, to celiac disease and inflammatory bowel disease as examples of neurologic dysfunction in GI disease. Rare disorders such as Whipple disease (WhD), chronic acquired hepatocerebral degeneration (CAHD), and Wilson disease (WD) should also be considered for their neurologic dysfunctions as manifested extraintestinally. Tables give an overview of clinical features of the various disorders presented in this review.   This module contains ­4 highly rendered figures, 9 tables, 349 references, and 5 MCQs. 

Application of high-throughput DNA sequencing to score population-specific variants for rare disorders

2019 ◽  
Vol 305 ◽  
pp. S25
Author(s):  
M.C. Ergoren ◽  
E. Manara ◽  
S. Paolacci ◽  
S.G. Temel ◽  
G. Mocan ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
High Throughput ◽  
Rare Disorders ◽  
High Throughput Dna Sequencing

Comments on the Review of “The Effigy Mound Culture of Wisconsin”

1958 ◽  
Vol 24 (2) ◽  
pp. 191-192
Author(s):  
W. C. McKern
Keyword(s):  
American Antiquity ◽  
General Status ◽  
Treat Ment ◽  
Effigy Mound

David Baerreis’ review of The Effigy Mound Culture of Wisconsin, by Chandler Rowe (American Antiquity, Vol. 23, No. 3, pp. 320–1), includes certain criticisms of methods and procedures underlying the author’s treat’ ment of his subject that raise important questions as to the general status of archaeological concept and methodology.For example, commenting on Rowe’s rejection of the early guess that effigy mound shapes represent clan symbols, Baerreis appears to argue that at some time, some tribe or tribes could possibly have possessed totemic patterns that might account for effigy mound shapes.

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