Results 101 to 110 of about 7,368 (202)

A case report of a rare Shwachman-Diamond syndrome with liver involvement [PDF]

, 2012
زمینه و هدف: سندرم شواخمن (SDS) یک بیماری نادر ارثی است که در سنین کودکی با علایم گرفتاری چند ارگان از جمله پانکراس اگزوکرین و مغز استخوان و نیز با علایم اختلال رشد تظاهر می کند.
Falahi, Gholam Hossein., Ghaderiyan, Sadegh., Kiyani, Mohammad Ali., Modaresi-Saryazdi, Vajiheh., Pakseresht, Bahar.   +4 more
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Nonsense Mutations in Rare and Ultra‐Rare Human Disorders: An Overview

IUBMB Life, Volume 77, Issue 6, June 2025.
ABSTRACT Over 7000 rare diseases have been described, collectively affecting 350 million people worldwide. Most of these conditions result from nonsense mutations, representing approximately 10% of all genetic mutations associated with human inherited diseases.
Emanuele Vitale, Davide Ricci, Federica Corrao, Ignazio Fiduccia, Ilenia Cruciata, Pietro Salvatore Carollo, Alessio Branchini, Laura Lentini, Ivana Pibiri   +8 more
wiley   +1 more source

Advancing Therapeutic Strategies for Nonsense‐Related Diseases: From Small Molecules to Nucleic Acid‐Based Innovations

IUBMB Life, Volume 77, Issue 5, May 2025.
ABSTRACT Nonsense mutations in gene coding regions introduce an in‐frame premature termination codon (PTC) in the mRNA transcript, resulting in the early termination of translation and the production of a truncated, nonfunctional protein. The absence of protein expression and the consequent loss of essential cellular functions are responsible for the ...
Davide Ricci, Ilenia Cruciata, Ignazio Fiduccia, Emanuele Vitale, Federica Corrao, Alessio Branchini, Pietro Salvatore Carollo, Ivana Pibiri, Laura Lentini   +8 more
wiley   +1 more source

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): An initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC) [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106711/1/pbc24875 ...
Bennett, Carolyn, Bertuch, Alison, Bessler, Monica, Coates, Thomas, Corey, Seth, Dror, Yigal, Huang, James, Lipton, Jeffrey, Olson, Timothy S., Reiss, Ulrike M., Rogers, Zora R., Shimamura, Akiko, Sieff, Colin, Vlachos, Adrianna, Walkovich, Kelly, Wang, Winfred, Williams, David A.   +16 more
core   +1 more source

European guidelines on treatment and supportive measures in chronic neutropenias: A consensus between the European Hematology Association and the EuNet‐INNOCHRON COST Action based on a systematic evidence review

HemaSphere, Volume 9, Issue 4, April 2025.
Abstract The treatment of chronic neutropenias and control of neutropenia‐related infections remain challenging topics for pediatric and adult hematologists. This article aims to fill the gap in the treatment of neutropenias and, in combination with the previously published European guidelines on diagnosis of neutropenias, gives complete and ...
Francesca Fioredda, Michail Spanoudakis, Julia Skokowa, Hannah Tamary, Piero Farruggia, Antonio Almeida, Daniela Guardo, Jan Palmblad, Petter Höglund, Ivo P. Touw, Cornelia Zeidler, Alan J. Warren, Mario Csenar, Nicole Skoetz, Elio Castagnola, Erica Ricci, David C. Dale, Peter E. Newburger, Karl Welte, Helen A. Papadaki, Carlo Dufour   +20 more
wiley   +1 more source

Neurological Manifestations in Primary Immunodeficiencies [PDF]

, 2016
As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações
Conde, M, Cordeiro, AI, Farela Neves, J, Lopes Silva, R, Neves, C, Oliveira, M   +5 more
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Chromosome anomalies in bone marrow as primarycause of aplastic or hypoplastic conditions andperipheral cytopenia: disorders due to secondaryimpairment of RUNX1 and MPL genes [PDF]

, 2012
Background Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS).
Bernardo Maria, Di Cesare-Merlone Alessandra, Ferrari Simona, Lo Curto Francesco, Locatelli Franco, Loffredo Giuseppe, Mare Lydia, Marletta Cristina, Maserati Emanuela, Menna Giuseppe, Montalbano Giuseppe, Pasquali Francesco, Pressato Barbara, Valli Roberto, Vinti Luciana, Zecca Marco   +15 more
core   +2 more sources

Approach to anaemia in gastrointestinal disease: A position paper by the ESPGHAN Gastroenterology Committee

Journal of Pediatric Gastroenterology and Nutrition, Volume 80, Issue 3, Page 510-532, March 2025.
Approach to Anaemia in paediatric Gastrointestinal Disease Abstract Anaemia is a frequent consequence of many gastrointestinal (GI) diseases in children and it can even be the initial presenting symptom of underlying chronic GI disease. The definition of anaemia is age and gender‐dependent and it can be classified based on pathophysiology, red cell ...
Ilse Julia Broekaert, Amit Assa, Osvaldo Borrelli, Marco Deganello Saccomani, Matjaž Homan, Javier Martin‐de‐Carpi, Emmanuel Mas, Erasmo Miele, Zrinjka Misak, Sara Sila, Mike Thomson, Christos Tzivinikos, Jernej Dolinsek   +12 more
wiley   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

Dynamic dyssynchrony and impaired contractile reserve of the left ventricle in beta-thalassaemia major: an exercise echocardiographic study [PDF]

, 2012
BACKGROUND: Performance of the left ventricle during exercise stress in thalassaemia patients is uncertain. We aimed to explore the phenomenon of dynamic dyssynchrony and assess contractile reserve in patients with beta-thalassaemia major and determine ...
Chan, GCF, Cheung, YF, Ha, SY, Ho, YC, Lam, WWM, Li, SN, Wong, SJ, Yu, W   +7 more
core   +1 more source