Publications by authors named "Jedraszak G"
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
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- SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
- The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
- About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.
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- Severe Alcoholic Hepatitis (sAH) is a liver condition resulting from long-term heavy drinking, and corticosteroids are the main treatment option.
- A study at Amiens University Hospital analyzed gut microbiota in 27 sAH patients before and after a 7-day corticosteroid treatment, finding no significant changes in microbiota composition or SCFA levels.
- While the gut microbiota remained stable, the study noted a reduction in certain bile acid ratios and LBP levels in serum, suggesting potential improvements in gut barrier function and implications for future treatments targeting gut microbiota.
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- - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
- - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
- - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.
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- Xq28 int22h-1/int22h-2 duplication results from recombination between specific genetic repeats and is linked to a form of intellectual disability along with recurrent infections and atopic diseases.
- In a study involving 15 families, many carriers exhibited mild or no symptoms, suggesting that the condition can manifest variably.
- The findings point towards potential incomplete penetrance, meaning not all carriers show obvious signs of the condition, indicating a need for further research to understand the genetic implications better.
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- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
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- Biallelic variants in the ALPK3 gene are linked to severe cardiomyopathy in children, while heterozygous variants in adults can lead to hypertrophic cardiomyopathy (HCM).
- A study involving genetic testing of 16,183 cardiomyopathy cases found 36 patients with null ALPK3 variants, highlighting the gene's significance in HCM.
- The research emphasizes the need for ALPK3 screening in patients with idiopathic HCM due to its strong association with the condition, particularly in pediatric cases presenting severe outcomes.
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- Scientists found that STIM2 is a protein that helps control how certain blood cells, called monocytic cells, grow and survive in a type of cancer called acute myeloid leukemia (AML).
- When they studied 407 AML patients, they discovered that more STIM2 meant shorter survival, which is not good.
- By lowering STIM2 levels in cancer cells, the scientists saw that the cells stopped growing and started breaking down, showing how STIM2 is important for keeping cells healthy and stable.
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- The study investigates the prevalence and effects of pathogenic variants in a specific gene related to cardiomyopathy and sudden cardiac death among patients.
- Out of 9,516 tested individuals, 31 were found to carry pathogenic variants, mostly presenting with dilated cardiomyopathy, with some also experiencing severe cardiac issues.
- Although the overall prognosis for dilated cardiomyopathy in variant carriers seems favorable, severe conditions and early onset were noted, especially in those with double variants.
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- - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
- - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
- - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
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- - The study focused on collecting and analyzing cases of fetuses with 7q11.23 copy number variations (CNVs), specifically Williams-Beuren syndrome (WBS) and 7q11.23 duplication, to enhance understanding of their prenatal features.
- - Researchers gathered clinical and ultrasound data from 40 fetuses with WBS, finding that common issues included intra-uterine growth retardation (IUGR), cardiovascular defects, and other notable signs.
- - The findings confirm that 7q11.23 CNVs lead to a variety of prenatal presentations, with IUGR and cardiovascular issues being the most prevalent, aiming to help identify distinctive signs in affected fetuses.
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- - HDAC6, a histone deacetylase usually found in the cytoplasm, regulates non-histone protein acetylation, affecting cell cycle and apoptosis; its selective inhibitor, Ricolinostat (ACY-1215), is effective against certain cancers but can cause anemia.
- - Research showed that inhibiting HDAC6 in CD34-derived erythroid progenitor cells led to reduced cell counts, higher apoptosis rates, and delayed maturation, with RNA sequencing revealing significant transcriptomic changes.
- - The study identified that ACY-1215 treatment hyperacetylates 14-3-3ζ, disrupting its interaction with LNK, thus promoting LNK's interaction with JAK2, which is essential
A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature review.
Eur J Obstet Gynecol Reprod Biol
January 2023
Article Synopsis
- Genuine empty follicle syndrome (gEFS) is a rare infertility issue where cumulus-oocyte complexes are present but no oocytes are found after IVF egg retrieval, linked to mutations in zona pellucida (ZP) proteins.
- A study focused on a 35-year-old woman diagnosed with gEFS revealed a new genetic variant in the ZP1 gene that likely disrupts protein assembly, explaining the absence of oocytes in her case after retrieval attempts.
- The findings suggest that genetic testing for ZP genes should be considered for similar infertility cases, allowing for better genetic counseling and potential treatment options like IVF adjustments or oocyte donation.
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- The EPIGENE network, formed in 2014 by a group of specialists in genetics and neurology, aims to enhance the diagnosis of Mendelian epileptic disorders in France through advanced sequencing techniques.
- Since its creation, the network has expanded to include more centers, resulting in the development of a multigene panel that has grown from 68 to 144 genes, with a significant diagnostic success rate of 31% from over 4,000 analyzed cases.
- Looking ahead, the network plans to offer whole-genome sequencing for young patients with severe epilepsy as part of the upcoming 2025 French Genomic Medicine Plan, fostering collaborations with the rare epilepsies reference center.
Unprovoked pulmonary embolism (uPE) is a severe and frequent condition. Identification of new risk factors is mandatory to identify patients that would benefit from a long-term treatment. Clonal hematopoiesis of indeterminate potential (CHIP) is defined by the acquisition of somatic mutations that drive clonal expansion in the absence of cytopenia.
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- Kleefstra syndrome (KS) is a rare genetic disorder that causes problems like intellectual disability, speech delays, autism, and unique facial features.
- Two siblings were studied who have KS, and their parents didn't show any signs of the disorder, but a new mutation was found in their dad.
- This study showed that KS can have different effects, suggesting doctors need to be careful when looking at genetic changes in families to give proper advice.
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- Acute lymphoblastic leukemia (ALL) exhibits numerous cytogenetic abnormalities that can be detected using various techniques, including a new method called optical genome mapping (OGM).
- In a study comparing OGM with standard techniques, OGM detected 90% of the abnormalities found by these methods, while identifying additional anomalies not previously detected.
- Despite some discrepancies, OGM showed potential as a simpler, more effective, and cost-efficient method for analyzing complex cytogenetic alterations in ALL compared to traditional techniques.
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- The case study discusses a patient with type 2 Timothy syndrome caused by a specific mutation in the CACNA1C gene.
- The patient has significant heart issues, indicated by a prolonged QT interval of 540 ms, but lacks major physical deformities or cranio-facial abnormalities.
- Through treatment with mexiletine alongside nadolol, there was a noted decrease in the QTc interval and a slight reduction in the frequency of life-threatening heart events over a nine-year period.
Risk factors for failed chorionic villus sampling: results of a 4-year retrospective study.
J Matern Fetal Neonatal Med
January 2022
Article Synopsis
- Chorionic villus sampling (CVS) offers quicker results for detecting genetic abnormalities compared to amniocentesis, but it has a higher rate of incomplete results, prompting this study to seek risk factors for such failures.
- The study, conducted from January 2014 to December 2018, involved 214 CVS procedures, revealing that 34% resulted in failures, with significant differences noted between successful and failed cases related to BMI, gestational age, trophoblastic location, and type of sampling approach.
- Key factors negatively impacting the success of CVS included higher BMI, the posterior position of the trophoblast, and a transcervical sampling method; these findings suggest considering amni
[Contribution of array CGH in the management of fetal nuchal translucency].
Gynecol Obstet Fertil Senol
February 2020
Objectives: Increased nuchal translucency and cystic hygroma have a neonatal prognosis, when the karyotype is normal, which depends on the findings during the medical follow-up. Array comparative genomic hybridization (aCGH) has been systematically included in this follow-up by prenatal diagnosis teams. There are no guidelines and little information on the advantages of carrying out this test systematically.
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