Results 41 to 50 of about 239,927 (172)

Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case

Research and Practice in Thrombosis and Haemostasis, 2021
Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a ...
Megan Langer, Meredith Manire, Matthew Clarkson, Yazan Samhouri, Deep Shah, Rama Bhagavatula   +5 more
doaj   +1 more source

Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene

Pediatric Reports, 2021
Detection of severe hypofibrinogenemia (
Jun Shinozuka, Nobuo Okumura, Mayumi Nagasawa, Motokazu Nishikado, Sayaka Kadowaki, Itsuro Katsuda, Shinsaku Imashuku   +6 more
doaj   +1 more source

Nonketotic hyperosmolar coma associated with splenic rupture in congenital afibrinogenemia

, 2004
Nonketotic hyperosmolar coma is uncommon in children. Splenic rupture in congenital afibrinogenemia is also a rare event. The authors described a 5-year-old girl with congenital afibrinogenemia who presented with nonketotic hyperosmolar coma associated ...
Patiroglu, Türkan, KESKIN, M, GOZUKUCUK, Ali, AKCAKUS, Mustafa, KOKLU, Esad   +4 more
core   +1 more source

Integrating Next‐Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real‐World Data From Spanish Patients

Haemophilia, Volume 31, Issue 4, Page 734-742, July 2025.
ABSTRACT Introduction Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next‐generation sequencing (NGS) technology have enabled high‐throughput methods for molecular ICFD diagnosis.
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo‐Vizcaya, Cristina Marzo‐Alonso, Maria‐Fernanda López‐Fernández, Mariana Canaro, María Falcón‐Rodríguez, Ángela Cortes‐Vidal, Mario A. Rios de Paz, José Antonio Rodríguez‐García, Ana Moreto‐Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal   +17 more
wiley   +1 more source

Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia

, 2010
Congenital afibrinogenemia, a very rare autosomal recessive coagulation disorder, is characterized by undetectable and extremely low antigen levels of fibrinogen in plasma.
Celkan, Tülin Tıraje, ELEVLI, Murat, YAVUZ, Selda C., CIVILIBAL, Mahmut, AYTA, Semih, ATAOGLU, Emel, DURU, Nilgun S.   +6 more
core   +1 more source

Prevention of Congenital Cytomegalovirus Infection: Review and Case Series of Valaciclovir versus Hyperimmune Globulin Therapy [PDF]

, 2023
Cytomegalovirus (CMV) is the most common cause of congenital infections in developed countries because is capable of infecting the fetus after both primary and recurrent maternal infection, and because the virus may be spread for years through infected ...
on behalf of the Congenital Cytomegalic Disease Collaborating Group, On Behalf Of The Congenital Cytomegalic Disease Collaborating Group, null, Nigro, Giovanni, Muselli, Mario, Giovanni Nigro, Mario Muselli   +5 more
core   +1 more source

CONGENITAL AFIBRINOGENEMIA (CASE REPORT)

Eurasian Journal of Medicine, 2019
We report a 42 year –old man with congenital afibrinogenemia presenting with ecchymoses and hemoptysis. Moreover we describe the diagnostic importance of congenital afibrinogenemia.
Fuat Erdem, Abdullah Uyanık, Mehmet Gündoğdu   +2 more
doaj  

An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds [PDF]

, 2021
Congenital fibrinogen disorders are very rare in dogs. Cases of afibrinogenemia have been reported in Bernese Mountain, Bichon Frise, Cocker Spaniel, Collie, Lhasa Apso, Viszla, and St. Bernard dogs.
Ottmar Distl, Distl, O., Mischke, R., Metzger, J. ; https://orcid.org/, Julia Metzger, Reinhard Mischke   +5 more
core   +1 more source

Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management

, 2020
Fibrinogen is a complex protein playing a major role in coagulation. Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. Even though the clinical course is unpredictable and can be
De Moerloose, Philippe, Casini, Alessandro, Neerman Arbez, Marguerite   +2 more
core   +1 more source

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
This study describes a rare autosomal recessive disorder with paternal uniparental disomy of chromosome 4 leading to the homozygosity of the α‐L‐iduronidase (IDUA) splicing variant in patients with mucopolysaccharidosis type I for the first time.
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Haibo Li   +5 more
wiley   +1 more source