Results 71 to 80 of about 29,070 (238)

Orbital rhabdomyosarcoma in a patient with Gaucher disease type 3: a case report and literature review

Egyptian Pediatric Association Gazette
Background Several studies have demonstrated an increased risk of malignancy in patients with Gaucher disease, particularly hematological cancers, which have been most frequently reported in Gaucher disease type 1.
Azza Abdel Gawad Tantawy, Amira Abdel Moneam Adly, Khaled Anwar El Sayed, Salwa Mostafa Abdelkader, Nihal Hussien aly   +4 more
doaj   +1 more source

Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

BMC Medical Genetics, 2019
Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid ...
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth   +22 more
doaj   +1 more source

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians [PDF]

, 2017
Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience
Belmatoug, N, Bembi, B, Deegan, P, Di Rocco, M, Elstein, D, Göker-Alpan, Ö, Hughes, D, Kuter, DJ, Lukina, E, López, JP, Mehta, A, Mengel, E, Nakamura, K, Panahloo, Z, Pastores, GM, Schwartz, I, Serratrice, C, Szer, J, Zimran, A   +18 more
core   +1 more source

Gaucher disease and pregnancy

Journal of Obstetrics and Gynaecology, 2009
Gaucher disease (GD) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal β-glucocerebrosidase and subsequent accumulation of glucosylceramide (GlcCer) in cells of the reticuloen...
A M, Mamopoulos, D A, Hughes, S M, Tuck, A B, Mehta   +3 more
openaire   +2 more sources

Validity assessment for technical skills and stress management of the HelpMeSee® Manual Small Incision Cataract Surgery module

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess the validity of the HelpMeSee Manual Small Incision Cataract Surgery (MSICS) module as a virtual reality training tool for technical skills and stress management in ophthalmology. Methods This prospective study enrolled 47 volunteer surgeons from five groups: four groups of eye surgeons with increasing experience (novice ...
Lea Dormegny, Marion Schaeffer, Nicole Neumann, Remi Yaïci, Lauriana Solecki, Gauthier Dechriste, Emilia Koestel, David Gaucher, Arnaud Sauer, Van Charles Lansingh, Anne Lejay, Nabil Chakfé, Tristan Bourcier   +12 more
wiley   +1 more source

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

Haematologica, 2008
Background Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy.
Maja Di Rocco, Fiorina Giona, Francesca Carubbi, Silvia Linari, Fabrizio Minichilli, Roscoe O. Brady, Giuliano Mariani, Maria Domenica Cappellini   +7 more
doaj   +1 more source