Article
Medicine, General & Internal
Shiho Amano, Kohei Oka, Yutaka Sato, Chiaki Sano, Ryuichi Ohta
Summary: Factor XIII (FXIII) deficiency is a rare but serious coagulation disorder. The diagnosis and treatment, especially the immunological testing for acquired FXIII deficiency, still face challenges due to limited facilities.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Hematology
Akbar Dorgalaleh
Summary: The prevalence of heterozygous FXIII deficiency ranges from 1 per 1,000 to 5,000 individuals, with a higher incidence in southeastern Iran. A study identified 49 different variants in the F13A gene, mostly missense, which were frequently found in the catalytic domain of the FXIII-A protein. While heterozygous FXIII deficiency is generally asymptomatic, it can lead to hemorrhagic complications in situations that challenge hemostasis.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2023)
Article
Pediatrics
Naveen Kanth Nadakuditi, Elvis Fabian Peters, Sitalakshmi Subramanian, Anand Prakash
Summary: This study retrospectively reviewed the medical records of children with Congenital Factor 13 Deficiency (FXIIID) in a tertiary care center in Southern India from January 2000 to October 2021, and described the clinical symptoms, diagnosis, and management of FXIIID. The results showed that FXIIID presents with a wide range of clinical symptoms and the high prevalence of consanguinity in the region may contribute to the high prevalence of FXIIID. Regular prophylaxis is necessary to prevent potentially fatal bleeds.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Hematology
Akbar Dorgalaleh
Summary: Despite the early discovery of FXIII, the diagnosis of FXIII deficiency was delayed until 1960 due to the normality of routine coagulation testing. The clot solubility test, once used to detect FXIII deficiency, is no longer recommended. Over the past 60 years, extensive knowledge about FXIII deficiency has been gained, with 197 mutations reported between 1992 and 2022. Therapeutic options have evolved to plasma-derived and recombinant FXIII concentrates. This review covers various aspects of FXIII deficiency, including its discovery, associated disorders, molecular basis, diagnosis, and treatment.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2023)
Review
Critical Care Medicine
Christian Kleber, Armin Sablotzki, Sebastian Casu, Martin Olivieri, Kai-Martin Thoms, Johannes Horter, Felix C. F. Schmitt, Ingvild Birschmann, Dietmar Fries, Marc Maegele, Herbert Schoechl, Michaela Wilhelmi
Summary: Factor XIII (FXIII) is a protein involved in blood clot stabilization and plays important roles in trauma, surgery, and wound healing. Low FXIII levels after surgery can lead to post-operative complications, but FXIII supplementation can reduce blood transfusions and improve wound healing. Identifying low FXIII levels in specific patient populations can help diagnose and guide the treatment of acquired FXIII deficiency.
Review
Endocrinology & Metabolism
Alessandro Rossi, Simona Basilicata, Melissa Borrelli, Carlos R. Ferreira, Nenad Blau, Francesca Santamaria
Summary: Respiratory manifestations are a major cause of morbidity and mortality in inherited metabolic diseases (IMDs). The type and severity of symptoms vary depending on the underlying disorder. There are 181 IMDs associated with respiratory symptoms, classified into seven groups based on clinical manifestations: respiratory failure, restrictive lung disease, interstitial lung disease, lower airway disease, upper airway obstruction, apnea, and other. Investigations and therapeutic strategies for IMD-associated airway disease are provided.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Hematology
Akitada Ichinose, Tsukasa Osaki, Masayoshi Souri
Summary: Autoimmune factor XIII deficiency is a rare and life-threatening bleeding disorder that primarily affects the elderly. Research shows that patients with AiF13D have lower levels of FXIII antigen, and specific screening tests can effectively differentiate this condition from others.
Article
Hematology
Johana Carolina Gomez Builes, Andrew J. Baker, Jeannie Callum, Sunti Barahi, Johnny Bai, Keyvan Karkouti, Rosane Nisenbaum, Michelle Sholzberg
Summary: The association between baseline FXIII levels and bleeding-related outcomes and mortality in severely injured patients is inconsistent. However, there is a correlation between FXIII levels and major bleeding, which requires further investigation in massively transfused trauma patients.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Medicine, General & Internal
Lingsu Gao, Dengju Li, Meiqi Ding
Summary: This case report presents a rare case of idiopathic FXIIID with secondary hyperfibrinolysis. The patient was accurately diagnosed and successfully treated, leading to recovery.
Article
Medicine, General & Internal
Matthias Noitz, Roxane Brooks, Johannes Szasz, Dennis Jenner, Carl Boeck, Niklas Krenner, Martin W. Duenser, Jens Meier
Summary: This study found that factor XIII deficiency occurred in 69% of adults undergoing ECMO therapy, and it was associated with a higher risk of major bleeding events and increased transfusion requirements.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Immunology
Cathleen Collins, Emily Sharpe, Abigail Silber, Sarah Kulke, Elena W. Y. Hsieh
Summary: Congenital athymia is a rare disease characterized by absence of a functioning thymus, often associated with genetic and syndromic disorders. Patients have severe immunodeficiency and require differentiation from SCID for appropriate treatment. Cultured thymus tissue is being investigated as a potential treatment.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Agriculture, Dairy & Animal Science
Hirokazu Matsumoto, Satoshi Kimura, Ryo Saito, Makoto Takeichi, Atsushi Kashimura, Toshiaki Inenaga
Summary: This study analyzed 11 mutations associated with genetic diseases in Wagyu breeds and found causative mutations for chondrodysplastic dwarfism, factor XI deficiency, and factor XIII deficiency in the Kumamoto sub-breed. DNA testing is necessary to prevent economic losses.
ANIMAL SCIENCE JOURNAL
(2023)
Article
Medicine, General & Internal
Yusuke Yamada, Tomohiro Abe, Hidenobu Ochiai, Shinya Ashizuka
Summary: A 67-year-old woman with a history of autoimmune hepatitis was admitted for fever, acute hepatic dysfunction, and acute kidney injury. She was diagnosed with multiple duodenal ulcers. Despite various treatments, the bleeding continued and she was eventually diagnosed and successfully treated for a low factor XIII activity level.
Review
Medicine, General & Internal
Nicola Farina, Alessandro Tomelleri, Corrado Campochiaro, Lorenzo Dagna
Summary: Giant cell arteritis (GCA) is a common vasculitis that primarily affects individuals over 50 years old. Recent research has expanded our understanding of this condition, revealing that it can involve inflammation in both cranial and extra-cranial arteries. The introduction of vascular ultrasound has revolutionized the diagnosis of suspected GCA, offering a rapid, cost-effective, and non-invasive method. Tocilizumab has also become an important part of the treatment algorithm for GCA, providing effective disease control even in patients who are resistant to steroids.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2023)
Review
Virology
Jing Zhang, Koju Kamoi, Yuan Zong, Mingming Yang, Kyoko Ohno-Matsui
Summary: Anterior uveitis (AU) associated with cytomegalovirus (CMV) infection is a common ocular disease, especially in Asia. Prompt diagnosis is crucial to prevent progression to glaucoma. Oral valganciclovir and topical ganciclovir can yield positive outcomes, with higher concentration and frequency benefiting chronic CMV retinitis.
Letter
Hematology
Sayed Hamid Mousavi, Sirous Zeinali, Seyed Alireza Mesbah-Namin, Mahmood Shams, Akbar Dorgalaleh
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2020)
Article
Hematology
Hamid Reza Niazkar, Akbar Dorgalaleh, Fariba Rad
TURKISH JOURNAL OF HEMATOLOGY
(2020)
Article
Hematology
Robert C. Gosselin, Dorothy Adcock, Akbar Dorgalaleh, Emmanuel J. Favaloro, Giuseppe Lippi, Joao M. Pego, Irene Regan, Virginie Siguret
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2020)
Letter
Hematology
Akbar Dorgalaleh, Ali Dabbagh, Shadi Tabibian, Mohammad Reza Baghaeipour, Mohammad Jazebi, Mehran Bahraini, Sahar Fazeli, Fariba Rad, Nazanin Baghaeipour
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2020)
Editorial Material
Hematology
Akbar Dorgalaleh
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2020)
Review
Hematology
Akbar Dorgalaleh, Shadi Tabibian, Maryam Sadat Hosseini, Mahmood Shams
EXPERT REVIEW OF HEMATOLOGY
(2020)
Review
Hematology
Akbar Dorgalaleh, Emmanuel J. Favaloro, Mehran Bahraini, Fariba Rad
Summary: Prothrombin time (PT) and international normalized ratio (INR) play crucial roles in anticoagulant therapy, but variability in INR values between laboratories may still exist due to differences in reagents and coagulometer characteristics.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Letter
Hematology
Akbar Dorgalaleh, Mohammad Reza Baghaipour, Shadi Tabibian, Farid Ghazizadeh, Ali Dabbagh, Gholamreza Bahoush, Mohammad Jazebi, Mehran Bahraini, Alieh Fazeli, Nazanin Baghaipour, Forough Yousefi
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2020)
Review
Hematology
Chris Gardiner, Robyn Coleman, Moniek P. M. de Maat, Akbar Dorgalaleh, Marion Echenagucia, Robert C. Gosselin, Masahiro Ieko, Steve Kitchen
Summary: This document provides guidance on evaluating new methods for clinical testing, covering the planning and execution of commonly performed screening tests and instrument-specific issues. It also offers advice on selecting an appropriate haemostasis analyser and assessing different aspects of a haemostasis test system.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Letter
Hematology
Akbar Dorgalaleh, Shadi Tabibian, Mahboobeh Mohammadamini, Mehran Bahraini, Ali Dabbagh, Ali Noroozi-Aghideh, Mahmood Shams, Ali Anvar, Ali Namvar, Mohammad Reza Baghaipour, Fariba Rad, Parviz Azadi
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Review
Medicine, General & Internal
Nahid Ramezanpour, Farhad Zaker, Arijit Biswas, Akbar Dorgalaleh
Summary: Inhibitor development in congenital factor VII deficiency is a rare but severe phenomenon, usually seen in patients with severe FVII deficiency, characterized by high-titer inhibitors and severe bleeding. Majority of patients had received recombinant FVII therapy, with variations in detected mutations.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Fariba Rad, Ali Dabbagh, Akbar Dorgalaleh, Arijit Biswas
Summary: There is an association between high baseline inflammatory cytokine levels and coagulation abnormalities in COVID-19 patients, which may indicate a higher risk of developing thrombotic events and poor outcomes.
JOURNAL OF CLINICAL MEDICINE
(2021)
Letter
Hematology
Akbar Dorgalaleh, Ali Dabbagh, Shadi Tabibian, Mehran Bahraini, Hassan Rafieemehr
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Article
Medical Laboratory Technology
Maryam Daneshi, Akbar Dorgalaleh, Shadi Tabibian, Majid Safa, Majid Naderi, Ahmad Kazemi
CLINICAL LABORATORY
(2020)
Review
Pediatrics
Hojat Shahraki, Majid Fathi, Shadi Tabibian, Omolbanin Sargazi-Aval, Hasan Mollanoori, Farhad Zaker, Shahram Teimourian, Maryam Daneshi, Akbar Dorgalaleh
IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2020)