scholarly journals OP09.02: Performance of ultrasonographic phenotype for the diagnosis of prenatal rare disorders

2021 ◽  
Vol 58 (S1) ◽  
pp. 85-85
Author(s):  
N. Bourgon ◽  
J. Sichitiu ◽  
E. Spaggiari ◽  
F. Audibert ◽  
A. Geipel ◽  
...  
Keyword(s):  
Rare Disorders

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

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

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

scholarly journals Splicing in the Diagnosis of Rare Disease: Advances and Challenges

2021 ◽  
Vol 12 ◽  
Author(s):  
Jenny Lord ◽  
Diana Baralle
Keyword(s):  
Rare Disease ◽  
Clinical Application ◽  
Predictive Modeling ◽  
Diagnostic Testing ◽  
Rare Disorders ◽  
Diagnostic Odyssey ◽  
Sequencing Technologies ◽  
Splicing Variants ◽  
The Way

Mutations which affect splicing are significant contributors to rare disease, but are frequently overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic splicing variants will increase diagnostic yields, ending the diagnostic odyssey for patients and families affected by rare disorders, and improving treatment and care strategies. Advances in sequencing technologies, predictive modeling, and understanding of the mechanisms of splicing in recent years pave the way for improved detection and interpretation of splice affecting variants, yet several limitations still prohibit their routine ascertainment in diagnostic testing. This review explores some of these advances in the context of clinical application and discusses challenges to be overcome before these variants are comprehensively and routinely recognized in diagnostics.

scholarly journals Double Aneuploidy - A Rare Condition : Report of Two Cases

2015 ◽  
Vol 32 (3) ◽  
pp. 171-173
Author(s):  
Saequa Habib ◽  
Sultana Gulshana Banu ◽  
SM Shahedul Islam ◽  
Choudhury Ali Kawser
Keyword(s):  
Peripheral Blood ◽  
Cytogenetic Analysis ◽  
Trisomy 21 ◽  
Rare Condition ◽  
Chromosome Abnormalities ◽  
Banding Technique ◽  
Giemsa Banding ◽  
Rare Disorders ◽  
Phenotypic Features ◽  
Double Aneuploidy

The chance of two chromosome abnormalities occurring in one conceptus is rare. Here we report two cases of double aneuploidy with karyotype 48,XYY,+21 and 48,XXY,+21.The diagnosis was confirmed by cytogenetic analysis using peripheral blood followed by Giemsa banding technique. Clinically both the children had most of the phenotypic features of Trisomy 21. However phenotypic features of XYY were not present but the child with XXY had undescended right testis .The purpose of this communication is to report such rare disorders discovered as the result of the evaluation for Trisomy 21.J Bangladesh Coll Phys Surg 2014; 32: 171-173

scholarly journals WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

2021 ◽  
Author(s):  
Sebiha Cevik ◽  
Lama Alabdi ◽  
Xiaoyu Peng ◽  
Tina Beyer ◽  
Atiyye Zorluer ◽  
...  
Keyword(s):  
Clinical Features ◽  
Renal Agenesis ◽  
Rare Disorders ◽  
Compartment Analysis ◽  
C Elegans ◽  
Gtpase Activating Proteins ◽  
Mechanistic Analysis ◽  
Evolutionarily Conserved ◽  
Null Mutants

Abstract The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes have been implicated in ciliopathies, the genetic pathogenesis in certain cases remains still undisclosed. Here, we identified a homozygous truncating variant in WDR31 in a patient with a typical ciliopathy phenotype encompassing congenital hydrocephalus, polydactyly, and renal agenesis. WDR31 is an evolutionarily conserved protein that localizes to the cilium and cilia-related compartment. Analysis from zebrafish supports the role of WDR31 in regulating the cilia morphology. The CRISPR/Cas9 knock-in (p.Arg261del) C. elegans model of the patient variant (p.Arg268*) reproduced several cilia-related defects observed in wdr-31 null mutants. Mechanistic analysis from C. elegans revealed that WDR-31 functions redundantly with ELDM-1 (ELMOD protein) and RPI-2 (RP2) to regulate the IFT trafficking through controlling the cilia entry of the BBSome. This work revealed WDR31 as a new ciliopathy protein that regulates IFT and BBSome trafficking.

Sign in / Sign up

Export Citation Format

Share Document