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Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
Eur J Med Genet. 2023 Dec;66(12):104869. doi: 10.1016/j.ejmg.2023.104869. Epub 2023 Oct 29.ABSTRACTDespite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways o...
Source: European Journal of Medical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Kristian L Juul-Dam Neerav N Shukla Todd M Cooper Branko Cuglievan Olaf Heidenreich E Anders Kolb Milad Rasouli Henrik Hasle C Michel Zwaan Source Type: research

Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
Eur J Med Genet. 2023 Dec;66(12):104869. doi: 10.1016/j.ejmg.2023.104869. Epub 2023 Oct 29.ABSTRACTDespite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways o...
Source: European Journal of Medical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Kristian L Juul-Dam Neerav N Shukla Todd M Cooper Branko Cuglievan Olaf Heidenreich E Anders Kolb Milad Rasouli Henrik Hasle C Michel Zwaan Source Type: research

Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
Eur J Med Genet. 2023 Dec;66(12):104869. doi: 10.1016/j.ejmg.2023.104869. Epub 2023 Oct 29.ABSTRACTDespite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways o...
Source: European Journal of Medical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Kristian L Juul-Dam Neerav N Shukla Todd M Cooper Branko Cuglievan Olaf Heidenreich E Anders Kolb Milad Rasouli Henrik Hasle C Michel Zwaan Source Type: research

Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
Eur J Med Genet. 2023 Dec;66(12):104869. doi: 10.1016/j.ejmg.2023.104869. Epub 2023 Oct 29.ABSTRACTDespite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways o...
Source: European Journal of Medical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Kristian L Juul-Dam Neerav N Shukla Todd M Cooper Branko Cuglievan Olaf Heidenreich E Anders Kolb Milad Rasouli Henrik Hasle C Michel Zwaan Source Type: research

Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
Eur J Med Genet. 2023 Dec;66(12):104869. doi: 10.1016/j.ejmg.2023.104869. Epub 2023 Oct 29.ABSTRACTDespite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways o...
Source: European Journal of Medical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Kristian L Juul-Dam Neerav N Shukla Todd M Cooper Branko Cuglievan Olaf Heidenreich E Anders Kolb Milad Rasouli Henrik Hasle C Michel Zwaan Source Type: research

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
The objective of this patient pathway is to improve patient care by reducing the time to diagnosis, define the best management and follow-up strategies and avoid overuse of resources. Therefore, the patient pathway describes the clinical evaluation and investigations that lead to a clinical diagnosis, the genetic testing, differential diagnosis, the management and treatment options and the patient follow up at expert and local centres. Also, the importance of the patient group participation in the PPL WG is discussed.PMID:38143023 | DOI:10.1016/j.ejmg.2023.104905 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Nele Devoogdt Sarah Thomis Florence Belva Janine Dickinson-Blok Caroline Fourgeaud Guido Giacalone Tonny Karlsmark Heli Kavola Vaughan Keeley Manuela Louren ço Marques Sahar Mansour Christoffer V Nissen Susan N ørregaard Michael Oberlin Tanja Planin še Source Type: research

Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal
Eur J Med Genet. 2023 Dec 22;67:104908. doi: 10.1016/j.ejmg.2023.104908. Online ahead of print.ABSTRACTIn recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emo...
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: L ídia Guimarães Ruxanda Bai ão Catarina Costa Marina Lemos Margarida Rangel Henriques Milena Paneque Source Type: research

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
Eur J Med Genet. 2023 Dec 22;67:104906. doi: 10.1016/j.ejmg.2023.104906. Online ahead of print.ABSTRACTArboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease. Moreover, because of the wide and unspecific spectrum of ARTHS, identification of the syndrome during prenatal life...
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Antonella Di Caprio Cecilia Rossi Emma Bertucci Luca Bedetti Natascia Bertoncelli Francesca Miselli Lucia Corso Carolina Bondi Lorenzo Iughetti Alberto Berardi Licia Lugli Source Type: research

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
The objective of this patient pathway is to improve patient care by reducing the time to diagnosis, define the best management and follow-up strategies and avoid overuse of resources. Therefore, the patient pathway describes the clinical evaluation and investigations that lead to a clinical diagnosis, the genetic testing, differential diagnosis, the management and treatment options and the patient follow up at expert and local centres. Also, the importance of the patient group participation in the PPL WG is discussed.PMID:38143023 | DOI:10.1016/j.ejmg.2023.104905 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Nele Devoogdt Sarah Thomis Florence Belva Janine Dickinson-Blok Caroline Fourgeaud Guido Giacalone Tonny Karlsmark Heli Kavola Vaughan Keeley Manuela Louren ço Marques Sahar Mansour Christoffer V Nissen Susan N ørregaard Michael Oberlin Tanja Planin še Source Type: research

Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal
Eur J Med Genet. 2023 Dec 22;67:104908. doi: 10.1016/j.ejmg.2023.104908. Online ahead of print.ABSTRACTIn recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emo...
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: L ídia Guimarães Ruxanda Bai ão Catarina Costa Marina Lemos Margarida Rangel Henriques Milena Paneque Source Type: research

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
Eur J Med Genet. 2023 Dec 22;67:104906. doi: 10.1016/j.ejmg.2023.104906. Online ahead of print.ABSTRACTArboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease. Moreover, because of the wide and unspecific spectrum of ARTHS, identification of the syndrome during prenatal life...
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Antonella Di Caprio Cecilia Rossi Emma Bertucci Luca Bedetti Natascia Bertoncelli Francesca Miselli Lucia Corso Carolina Bondi Lorenzo Iughetti Alberto Berardi Licia Lugli Source Type: research

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
The objective of this patient pathway is to improve patient care by reducing the time to diagnosis, define the best management and follow-up strategies and avoid overuse of resources. Therefore, the patient pathway describes the clinical evaluation and investigations that lead to a clinical diagnosis, the genetic testing, differential diagnosis, the management and treatment options and the patient follow up at expert and local centres. Also, the importance of the patient group participation in the PPL WG is discussed.PMID:38143023 | DOI:10.1016/j.ejmg.2023.104905 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Nele Devoogdt Sarah Thomis Florence Belva Janine Dickinson-Blok Caroline Fourgeaud Guido Giacalone Tonny Karlsmark Heli Kavola Vaughan Keeley Manuela Louren ço Marques Sahar Mansour Christoffer V Nissen Susan N ørregaard Michael Oberlin Tanja Planin še Source Type: research

Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal
Eur J Med Genet. 2023 Dec 22;67:104908. doi: 10.1016/j.ejmg.2023.104908. Online ahead of print.ABSTRACTIn recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emo...
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: L ídia Guimarães Ruxanda Bai ão Catarina Costa Marina Lemos Margarida Rangel Henriques Milena Paneque Source Type: research

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
Eur J Med Genet. 2023 Dec 22;67:104906. doi: 10.1016/j.ejmg.2023.104906. Online ahead of print.ABSTRACTArboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease. Moreover, because of the wide and unspecific spectrum of ARTHS, identification of the syndrome during prenatal life...
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Antonella Di Caprio Cecilia Rossi Emma Bertucci Luca Bedetti Natascia Bertoncelli Francesca Miselli Lucia Corso Carolina Bondi Lorenzo Iughetti Alberto Berardi Licia Lugli Source Type: research

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
The objective of this patient pathway is to improve patient care by reducing the time to diagnosis, define the best management and follow-up strategies and avoid overuse of resources. Therefore, the patient pathway describes the clinical evaluation and investigations that lead to a clinical diagnosis, the genetic testing, differential diagnosis, the management and treatment options and the patient follow up at expert and local centres. Also, the importance of the patient group participation in the PPL WG is discussed.PMID:38143023 | DOI:10.1016/j.ejmg.2023.104905 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 24, 2023 Category: Genetics & Stem Cells Authors: Nele Devoogdt Sarah Thomis Florence Belva Janine Dickinson-Blok Caroline Fourgeaud Guido Giacalone Tonny Karlsmark Heli Kavola Vaughan Keeley Manuela Louren ço Marques Sahar Mansour Christoffer V Nissen Susan N ørregaard Michael Oberlin Tanja Planin še Source Type: research