What Laboratory Tests Are Consistent with Transient Erythroblastopenia of Childhood?
Discussion
Transient erythroblastopenia of childhood (TEC) is an “…anemia with a hemoglobin level at least 2 [standard deviations] below normal and a low reticulocyte count in relationship to the anemia in the absence of evidence of alternative causes of anemia.” A bone marrow aspirate shows decreased or absent erythroid precursor cells if obtained. The etiology is not well understood but may have a stimulating cause such as a viral infection, an immune-related and/or genetic cause. Parvovirus causing bone marrow suppression has been implicated and there are cases of affected siblings.
TEC is most common ...
Source: PediatricEducation.org - February 6, 2023 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
A CRISPR Alternative for Correcting Mutations That Sensitize Cells to DNA Damage
Researchers turned to base editors to correct mutations causing the rare genetic disease Fanconi anemia without inducing double-strand DNA breaks. (Source: The Scientist)
Source: The Scientist - October 10, 2022 Category: Science Tags: Sponsored Article Source Type: news
$3.25 million in grants to stand up to cancer will improve head and neck cancer treatments
(Stand Up To Cancer) Stand Up To Cancer ® has received $3.25 million in grants from four national nonprofits to fund research to find new treatments for head and neck cancers, which are newly diagnosed in about 65,000 Americans every year. The grants include contributions of $1.5 million each from the Fanconi Anemia Research Fund and the Farrah Fawcett Foundation. The American Head and Neck Society and the Head and Neck Cancer Alliance each provided $125,000. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - January 21, 2021 Category: International Medicine & Public Health Source Type: news
Scientists regenerate skin with stem cells to see how DNA defects in kids cause cancer
(Cincinnati Children's Hospital Medical Center) Physicians and scientists at Cincinnati Children's Hospital Medical Center used new stem cell technology to regenerate and study living patient-specific skin in the lab, giving them a precise close up view of how inherited DNA defects cause skin damage and deadly squamous cell carcinoma in children and young adults with Fanconi anemia (FA). (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - November 23, 2020 Category: Cancer & Oncology Source Type: news
Researchers identify the mechanism behind bone marrow failure in Fanconi anaemia
(University of Helsinki) Researchers at the University of Helsinki and the Dana-Farber Cancer Institute have identified the mechanism behind bone marrow failure developing in children that suffer from Fanconi anaemia. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - October 14, 2020 Category: Cancer & Oncology Source Type: news
What Causes Neutropenia?
Discussion
Neuropenia is defined as a neutrophil count < 1500/µL. It is classified as mild from 1000-1500/µL, moderate from 500-1000/µL, and severe if < 500/µL.
It is not uncommonly seen in the setting of acute self-limited infections, and with re-testing returns to normal. It is also not uncommon at certain ages, such as perinatally, especially in premature infants (up to 6%) . It is also common in certain ethnic groups particularly African American or Arabic populations where up to 10% of the children may have mild neutropenia which does not cause clinical disease. The overall prevalence a...
Source: PediatricEducation.org - March 2, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
WVU researcher studies incurable blood disease usually diagnosed in children
(West Virginia University) Most people with Fanconi anemia are diagnosed before they turn 12 but don't live past 30. Wei Du -- a researcher in the WVU School of Pharmacy and the WVU Cancer Institute -- is exploring the metabolic processes the underlie this form of anemia. Her findings may lead to new gene therapies that help patients live better, longer. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 13, 2019 Category: International Medicine & Public Health Source Type: news
Serendipitous meeting leads to new insights into Fanconi anemia
A chance exchange between two Yale scientists has led to new insight into the causes of a rare but devastating childhood disease. (Source: Yale Science and Health News)
Source: Yale Science and Health News - January 28, 2019 Category: Universities & Medical Training Source Type: news
Family desperately searches for bone marrow donor for five-year-old daughter
Norah Gratz-Lazarus, from Alameda, was diagnosed with fanconi anemia, a disorder in which bone marrow makes too few blood cells. Her family say they need 10,000 new donors to find a match. (Source: the Mail online | Health)
Source: the Mail online | Health - January 21, 2019 Category: Consumer Health News Source Type: news
What Causes Hyperpigmentation?
Discussion
Skin color is primarily due to genetic factors. Melanocytes are usually found in skin in the basal layer of the epidermis which is also where the melanin usually lies. There are a range of normal skin phenotypes that have been described by Fitzpatrick and range from I-VI:
I – pale white skin, blond hair, blue eyed, does not tan, always burns
II – fair skin, blue eyed, tans poorly, burns easily
III – darker white skin, burns initially then tans
IV – light brown skin, tans easily, burns minimally
V – brown skin, tans darkly easily, burns rarely
VI – dark brown skin, alway...
Source: PediatricEducation.org - December 17, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Breakthrough in understanding Warsaw breakage syndrome
(Tokyo Metropolitan University) Researchers from Tokyo Metropolitan University and the FIRC Institute of Molecular Oncology (IFOM) in Italy have uncovered a previously unknown function of the DDX11 helicase enzyme. Mutations in the gene which codes for DDX11 are known to be implicated in Warsaw Breakage Syndrome. They showed that DDX11 plays an important role in DNA repair, and functions as a backup to the Fanconi Anemia (FA) pathway, whose malfunction is associated with another life-debilitating condition. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 1, 2018 Category: International Medicine & Public Health Source Type: news
NUS study: RUNX proteins act as regulators in DNA repair
(National University of Singapore) A study by researchers from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore has revealed that RUNX proteins are regulators in efficient DNA repair via the Fanconi Anemia (FA) pathway. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 15, 2018 Category: International Medicine & Public Health Source Type: news
DNA repair after CRISPR cutting not at all what people thought
(University of California - Berkeley) UC Berkeley scientists discovered that a well-known DNA repair pathway, the Fanconi anemia pathway, surprisingly plays a key role in repairing double-strand DNA breaks created by CRISPR-Cas9. It acts as a traffic cop to steer repair to simple end-joining or to patching the cut with new, single-strand DNA. Scientists could potentially tweak proteins involved in the pathway to preferentially steer the outcome toward replacement with DNA, which is important for gene therapy for hereditary diseases. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - July 30, 2018 Category: Cancer & Oncology Source Type: news
Artificial gene defect reveals target to fight genetic disease
(CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences) Fanconi anemia (FA) is caused by defective genes for DNA-repair leading to bone marrow failure, developmental abnormalities and increased cancer risk. Using genome-wide genetic approaches, researchers at CeMM systematically screened for the loss of an additional gene that could rescue the disease -- and found it. The corresponding protein turned out to be a potential target that could be therapeutically exploited for FA. The study was published in Nature Communications. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - June 11, 2018 Category: Cancer & Oncology Source Type: news
What is the Difference Between an Association and a Syndrome?
Discussion
VATER association was first described in the 1970s with additional congenital malformations being added to the association so it is most often called VACTERL association. It is a highly heterogeneous, overlapping condition estimated to occur in ~1/10,000-40,000 births. The cause is unknown. In animal models, some signaling pathway gene mutations have phenotypes of VACTERL association.
Experts suggest that patients having at least 2 components should be further evaluated (at least 3 for diagnosis) for VACTERL and other diseases in its differential diagnosis. There are more than 30 syndromes, mutations and diseas...
Source: PediatricEducation.org - February 5, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
