Efficacy of Ruxolitinib in the management of chronic GVHD.

Objectives: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative treatment for hematological diseases, with success rates improving due to advancements in conditioning regimens and new anti-graft versus host disease (GVHD) drugs. Ruxolitinib, an oral selective Janus kinase (JAK) 1 and 2 inhibitor has been used to mitigate the effects of various inflammatory and myeloproliferative syndromes, given the JAK kinase pathway's central role in cytokine signaling during inflammatory and immune processes. In this study we aimed to assess ruxolitinib's efficacy in patients with chronic GVHD (cGVHD).

Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.

Diamond-Blackfan anemia (DBA) is a rare constitutional inherited bone marrow failure syndrome (iBMF) characterized by progressive severe non-regenerative anemia and congenital abnormalities. Diagnosis is made by identification of a DBA-causing variant, typically in a ribosomal protein gene. More than 99% of patients are diagnosed in the pediatric age, but clinical manifestation may be mild and severe anemia can occur later in the patient's life.

The impact of patellofemoral joint diseases on functional outcomes and prosthesis survival in patients undergoing unicompartmental knee arthroplasty: a systematic review and meta-analysis.

Background: Patellofemoral joint (PFJ) diseases are chronic degenerative conditions that contribute to knee joint symptoms. Unicompartmental knee arthroplasty (UKA) is widely regarded as an effective treatment for knee osteoarthritis (KOA); however, its specific indications remain a subject of debate.

Hypothesis: Patients with PFJ disease are expected to experience outcomes post-UKA comparable to those of patients without PFJ disease.

A rare case report of severe aplastic anaemia caused by long-term use of zidovudine.

Background: Zidovudine is an antiviral drug used to treat acquired immune deficiency syndrome (AIDS). Anaemia is a common adverse effect of zidovudine that usually occurs in the first 2 to 4 weeks of initial treatment. Here, we describe a patient with HIV infection who developed severe aplastic anaemia 11 years after taking zidovudine.

A potential predictive model based on machine learning and CPD parameters in elderly patients with aplastic anemia and myelodysplastic neoplasms.

Background: Aplastic anemia (AA) and myelodysplastic neoplasms (MDS) have similar peripheral blood manifestations and are clinically characterized by reduced hematological triad. It is challenging to distinguish and diagnose these two diseases. Hence, utilizing machine learning methods, we employed and validated an algorithm that used cell population data (CPD) parameters to diagnose AA and MDS.

Acute lower limb ischemia revealing hypo granular acute promyelocytic leukemia.

Introduction: Acute promyelocytic leukemia (AML-M3), classified as acute Myeloid leukemia with PML RARA according to the 5th edition of the World Health Organization classification of haematolymphoid tumors 2022 [1], is marked by abnormal promyelocyte proliferation and is known for high risks of bleeding and thromboembolic complications. We present a case where lower limb ischemia revealed this leukemia in a child.

Case Report: An 11-year-old with minor ankle trauma developed severe lower limb ischemia, leading to the discovery of subtotal femoral artery thrombosis.

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.

Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).

Incidence and risk factors of graft failure in allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis in a nationwide pediatric cohort. A study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy.

Context: Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial.

Senescent T Cells: The Silent Culprit in Acute Myeloid Leukemia Progression?

Malignant tumors can evade immune surveillance and elimination through multiple mechanisms, with the induction of immune cell dysfunction serving as a crucial strategy. Mounting evidence indicates that T cell senescence constitutes the primary mechanism underlying T cell dysfunction in acute myeloid leukemia (AML) and represents one of the potential causes of immunotherapy failure. AML usually progresses rapidly and is highly susceptible to drug resistance, thereby resulting in recurrence and patient mortality.

A Retrospective Analysis of Fresh versus Cryopreserved Allogenic Bone Marrow Transplant within a Pediatric Population: A Change in Practice Due to the COVID-19 Pandemic.

Background: Several adult studies show mixed reports in clinical outcomes between cryopreserved and fresh stem cell products, with majority reporting no significant differences and others report that there are differences in outcomes. There is limited literature reporting its impact on outcomes in pediatric hematopoietic cell transplantation (HSCT).

Objective: To compare clinical outcomes between fresh vs cryopreserved stem cell treatment in pediatric HSCT.

Exploring the therapeutic potential of different sources of mesenchymal stem cells: a novel approach to combat burn wound infections.

The most prevalent and harmful injuries are burns, which are still a major global health problem. Burn injuries can cause issues because they boost the inflammatory and metabolic response, which can cause organ malfunction and systemic failure. On the other hand, a burn wound infection creates an environment that is conducive to the growth of bacteria and might put the patient at risk for sepsis.

Exacerbation of pulmonary fibrosis following acute lung injury via activin-A production by recruited alveolar macrophages.

Background: Acute respiratory distress syndrome (ARDS) is a complicated pathological cascade process of excessive pulmonary inflammation and alveolar epithelial cell apoptosis that results in respiratory dysfunction and failure. Some cases of ARDS can result in a more severe state of pulmonary fibrosis, referred to as postinjury lung fibrosis. The mortality and incidence rate of ARDS are high, particularly when it leads to continuing alveolar and interstitial fibrosis, which requires urgent treatment and appropriate management.

Localized COUP-TFII pDNA Delivery Modulates Stem/Progenitor Cell Differentiation to Enhance Endothelialization and Inhibit Calcification of Decellularized Allografts.

Decellularized allografts have emerged as promising candidates for vascular bypass grafting, owing to their inherent bioactivity and minimal immunogenicity. However, graft failure that results from suboptimal regeneration and pathological remodeling has hindered their clinical adoption. Recent advances in vascular biology highlight the pivotal role of COUP-TFII in orchestrating endothelial identity, angiogenesis, safeguarding against atherosclerosis, and mitigating vascular calcification.

Preclinical development of lentiviral vector gene therapy for Diamond-Blackfan anemia syndrome.

Diamond-Blackfan anemia syndrome (DBAS) is an inherited bone marrow failure disorder caused by haploinsufficiency of ribosomal protein genes, most commonly RPS19. Limited access to patient hematopoietic stem/progenitor cells (HSPCs) is a major roadblock to developing novel therapies for DBAS. We developed a novel self-inactivating third-generation RPS19-encoding lentiviral vector (LV), termed "SJEFS-S19", for DBAS gene therapy.

The Role of Radiotherapy in Lymphoma Patients Undergoing CAR T Therapy: Past, Present, and Future.

Chimeric antigen receptor (CAR) T-cell receptor therapy has transformed outcomes for patients with relapsed and refractory diffuse large B-cell lymphoma (R/R DLBCL). It is currently approved in the third line for all patients and in the second line for early relapsed or primary refractory disease. Although CAR T cell therapy offers the potential for improved outcomes, its use may also include logistical delays related to referral, medical, social, and financial clearance as well as manufacturing time; more than half of patients experience disease recurrence or progression while awaiting CAR T infusion.

Expert consensus on the management of pharmacodynamic breakthrough-hemolysis in treated paroxysmal nocturnal hemoglobinuria.

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, non-malignant hematologic disease characterized by complement-mediated hemolysis (with or without hemoglobinuria), fatigue, increased susceptibility to thrombosis, and bone marrow dysfunction. The development of complement inhibitors has transformed outcomes for patients with PNH, but patients may still experience pharmacodynamic breakthrough hemolysis (BTH), which can be caused by exposure to a complement amplifying condition (CAC), such as vaccination, infection, or surgery.

Materials And Methods: A 13-member expert panel used a validated methodology (a RAND/UCLA modified Delphi panel) to develop consensus on how to classify pharmacodynamic BTH in patients with complement-inhibitor treated PNH.

Etiological Spectrum of Bone Marrow Biopsy in Patients With Pancytopenia.

Background Pancytopenia is defined as a decrease in all three hematologic cell lines. The condition is not a disease in itself but a common pathway caused by various etiologies that can be infectious, autoimmune, genetic, nutritional, and/or malignant. Determining the cause of pancytopenia is a challenge and is key in determining the proper treatment regimen and estimating prognosis.

Hoyeraal-Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation.

Introduction And Importance: Dyskeratosis congenita (DC) is a rare multisystem disorder primarily characterized by bone marrow failure due to telomere shortening. Typical clinical features include oral leukoplakia, skin hyperpigmentation, and nail dystrophy, along with an increased risk of malignancies. Hoyeraal-Hreidarsson syndrome (HH), a severe variant of DC, is associated with profound neurological and immunological complications, emphasizing the importance of early diagnosis and genetic evaluation to guide appropriate management.

Investigating the effects of the ARG258HIS mutation on RAD51C in inherited Fanconi Anemia and cancer disease.

Fanconi anemia is a rare chromosomal instability disorder associated with developmental abnormalities, bone marrow failure, and a heightened susceptibility to leukemia and other cancers. It is an autosomal recessive genetic disorder, necessitating both parents to carry the faulty gene. Diagnostic methods include blood tests, chromosome breakage assessments, and genetic testing.

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations.

We have identified a new inherited bone marrow (BM) failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. A stop-codon COPZ1 mutation and a missense mutation were found in three patients from two unrelated families. While two affected siblings with a stop-codon COPZ1 mutation suffered from congenital neutropenia (CN) that involves other hematological lineages, and non-hematological tissues, the patient with a missense COPZ1 mutation had isolated neutropenia.

Spontaneous Tumor Lysis Syndrome in a Thoracic Burkitt Lymphoma: A Case Report.

Burkitt lymphoma has a high proliferation rate and a significant risk of tumor lysis syndrome. Risk stratification and early identification are imperative since it is an oncological emergency. We report the case of a 20-year-old woman, without relevant past medical history, admitted to the Emergency Department with a three-week history of fatigue, chest discomfort, productive cough, night sweats, myalgia, odynophagia, and holocranial headache.