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About 1,215 results

ALLMedicine™ Dyskeratosis Congenita Center

Research & Reviews  605 results

Impact of progesterone on skin and hair in menopause - a comprehensive review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574016
Climacteric : the Journal of the International Menopause ... Collopy LC, Walne AJ et. al.

Feb 2nd, 2021 - Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related...

Dyskeratosis congenita
https://rarediseases.info.nih.gov/diseases/10905/dyskeratosis-congenita

Jan 7th, 2021 - Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially o...

Special pre- and posttransplant considerations in inherited bone marrow failure and hem...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727534
Hematology. American Society of Hematology. Education Pro... Bonfim C

Dec 4th, 2020 - Advances in the diagnosis and treatment of inherited bone marrow failure syndromes (IBMFS) have provided insight into the complexity of these diseases. The diseases are heterogeneous and characterized by developmental abnormalities, progressive ma...

Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a n...
https://doi.org/10.1007/s00198-020-05758-6
Osteoporosis International : a Journal Established as Res... Belaya Z, Golounina O et. al.

Nov 27th, 2020 - We report a case of a young male patient with clinical signs of dyskeratosis congenita who presented with multiple bilateral low-traumatic hip fractures. Whole exome sequencing (WES) showed a previously unreported mutation in the poly(A)-specific ...

Pulmonary Manifestations of Skin Disorders in Children.
https://doi.org/10.1016/j.pcl.2020.09.009
Pediatric Clinics of North America; Cohen BA, Turcios NL

Nov 24th, 2020 - Systemic diseases often manifest with cutaneous findings. Many pediatric conditions with prominent skin findings also have significant pulmonary manifestations. These conditions include both inherited multisystem genetic disorders such as yellow-n...

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Guidelines  1 results

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherite...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565711
Biology of Blood and Marrow Transplantation : Journal of ... Dietz AC, Savage SA et. al.

May 23rd, 2017 - Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). ...

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Clinicaltrials.gov  605 results

Impact of progesterone on skin and hair in menopause - a comprehensive review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574016
Climacteric : the Journal of the International Menopause ... Collopy LC, Walne AJ et. al.

Feb 2nd, 2021 - Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related...

Dyskeratosis congenita
https://rarediseases.info.nih.gov/diseases/10905/dyskeratosis-congenita

Jan 7th, 2021 - Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially o...

Special pre- and posttransplant considerations in inherited bone marrow failure and hem...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727534
Hematology. American Society of Hematology. Education Pro... Bonfim C

Dec 4th, 2020 - Advances in the diagnosis and treatment of inherited bone marrow failure syndromes (IBMFS) have provided insight into the complexity of these diseases. The diseases are heterogeneous and characterized by developmental abnormalities, progressive ma...

Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a n...
https://doi.org/10.1007/s00198-020-05758-6
Osteoporosis International : a Journal Established as Res... Belaya Z, Golounina O et. al.

Nov 27th, 2020 - We report a case of a young male patient with clinical signs of dyskeratosis congenita who presented with multiple bilateral low-traumatic hip fractures. Whole exome sequencing (WES) showed a previously unreported mutation in the poly(A)-specific ...

Pulmonary Manifestations of Skin Disorders in Children.
https://doi.org/10.1016/j.pcl.2020.09.009
Pediatric Clinics of North America; Cohen BA, Turcios NL

Nov 24th, 2020 - Systemic diseases often manifest with cutaneous findings. Many pediatric conditions with prominent skin findings also have significant pulmonary manifestations. These conditions include both inherited multisystem genetic disorders such as yellow-n...

see more →

News  4 results

Engraftment achieved after conditioning without radiation, alkylating agents
https://www.mdedge.com/hematology-oncology/article/195853/transplantation/engraftment-achieved-after-conditioning-without?channel=50521
Andrew D. Bowser

Mar 7th, 2019 - HOUSTON – Use of an alemtuzumab/fludarabine conditioning regimen – without any radiation or alkylating agents – was effective in patients with a systemic regenerative disease who experienced myeloid failure after allogeneic transplantation, accord.

CRISPR sheds light on dyskeratosis congenita
https://www.mdedge.com/hematology-oncology/article/185535/anemia/crispr-sheds-light-dyskeratosis-congenita
HT Staff

Jul 28th, 2017 - Image by Marquet Minor Chromosomes in blue with telomeres in green Gene editing has revealed how dyskeratosis congenita (DC) impairs the formation of blood cells, according to research published in Stem Cell Reports. The discovery has opened up ne.

Potential treatment strategy for dyskeratosis congenita
https://www.mdedge.com/hematology-oncology/article/187109/anemia/potential-treatment-strategy-dyskeratosis-congenita
HT Staff

Aug 20th, 2016 - Lab mouse Preclinical research has revealed a potential treatment strategy for dyskeratosis congenita (DC). Researchers found that DC is characterized by reductions in telomerase, telomere length, and telomere capping, which reduces Wnt pathway ac.

Bowen Disease of the Nail Bed Presenting as Longitudinal Melanonychia: Detection of Human Papillomavirus Type 56 DNA
https://www.mdedge.com/dermatology/article/66907/bowen-disease-nail-bed-presenting-longitudinal-melanonychia-detection
Lambiase MC, Gardner TL et. al.

Bowen disease (BD) of the nail unit has multiple clinical presentations, often making its diagnosis challenging. BD is a squamous cell carcinoma (SCC) in situ with various cited etiologic causes, including ionizing and nonionizing radiation, hydro.

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