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Case report: A cyclic neutropenia patient with mutation accompanied by hemophagocytic lymphohistiocytosis.
Front Immunol
December 2024
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Many inborn errors of immunity may accompany secondary hemophagocytic lymphohistiocytosis (HLH), a condition typically characterized by impaired cytotoxic T and NK cell function. A considerable proportion of HLH cases also stem from chronic granulomatosis with phagocytic dysfunction. However, the development of secondary HLH in patients with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) with abnormal phagocytic cell counts has been less frequently reported.
View Article and Find Full Text PDFConvergent Synthesis, Kinetics, and Computational Studies of Indole(Phenyl)Triazole Bi-Heterocycles Modified With Propanamides as Elastase Inhibitors.
Chem Biodivers
November 2024
Department of Biological Sciences, College of Natural Sciences, Kongju National University, Gongju, Chungnam, South Korea.
Biological screening combined with the synthesis of heterocyclic compounds with numerous functions is the most effective approach available for pharmacological assessment of potential future medications. In the under taken research that is presented here, 4-(1H-indol-3-yl)butanoic acid was sequentially converted into 4-(1H-indol-3-yl)butanoate, 4-(1H-indol-3-yl)butanohydrazide, and 5-[3-(1H-indol-3-yl)propyl]-1,2,4-triazole-2-thiol as a nucleophile. By treating aryl amines with 3-bromopropanoyl chloride in a series of parallel reactions, different electrophiles were created, leading to the formation of N-(aryl)-3-bromopropanamides.
View Article and Find Full Text PDFThe Bloody Crossroads: Interactions between Periodontitis and Hematologic Diseases.
Int J Mol Sci
June 2024
Chair and Department of Oral Surgery, Medical University of Lublin, 20-093 Lublin, Poland.
Periodontitis is a common oral condition that can have a significant impact on the overall health of the body. In recent years, attention has been paid to potential relationships between periodontitis and various hematological disorders. This publication aims to present information available in the literature on this relationship, focusing on examples of red blood cell disorders (such as aplastic anemia and sickle cell anemia) and white blood cell disorders (such as cyclic neutropenia, maladaptive trained immunity, clonal hematopoiesis, leukemia, and multiple myeloma).
View Article and Find Full Text PDFClinical findings, treatment and outcome of trapped neutrophil syndrome in Border Collies: 12 cases (2011-2022).
J Small Anim Pract
July 2024
Hospital for Small Animals, The Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian, EH25 9RG, UK.
Objectives: This study aimed to evaluate clinical signs, diagnostic findings, treatment administered and short- (survival to 28 days) and long-term prognosis (survival >6 months) in dogs diagnosed with trapped neutrophil syndrome.
Materials And Methods: Medical records of 12 dogs (10 Border Collies and two Border Collie Crossbreeds) homozygous for VPS13B gene mutation causing trapped neutrophil syndrome from seven veterinary institutions between January 2011 and June 2022 were evaluated retrospectively.
Results: The most common clinical signs at the time of diagnosis were pyrexia, abnormal gait and gastrointestinal signs.
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Eur J Haematol
August 2024
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Article Synopsis
- Congenital neutropenias in Israel show a diverse genetic landscape, with a focus on severe cases, particularly highlighting the prevalence of G6PC3 variants in consanguineous populations.
- A total of 65 patients were analyzed, revealing that the majority of severe cases were linked to ELANE and G6PC3 mutations, while some had other genetic variants or conditions like cyclic neutropenia or Shwachman-Diamond syndrome.
- The study emphasizes the importance of ongoing monitoring for patients due to a significant occurrence of myeloid transformation, indicating gaps in medical understanding as some patients remain without a clear genetic diagnosis.
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