[Diagnosis of non-autoimmune hemolysis in the adult].

The diagnosis of hemolysis is still based on straightforward biochemical parameters: haptoglobin (the most sensitive), lactate dehydrogenase (LDH), and unconjugated bilirubin. Anemia is not always present. Reticulocyte counts typically exceed 120×10/L, except in cases of associated vitamin deficiency or during the very early phase of acute hemolysis.

Noninvasive Anatomical and Functional Imaging for Hemodynamic Relevance in Right Coronary Artery Anomalies.

Importance: Right anomalous aortic origin of a coronary artery (R-AAOCA) is a rare congenital condition increasingly diagnosed with the growing use of cardiac imaging. Due to dynamic compression of the anomalous vessel, invasive fractional flow reserve (FFR) during a dobutamine-atropine volume challenge (FFR-dobutamine) is considered the reference standard. A reliable alternative method is needed to reduce extensive invasive testing, but it remains uncertain whether noninvasive imaging can accurately assess the hemodynamic relevance of R-AAOCA.

Orbital Presentation of Eosinophilic Granulomatosis with Polyangiitis: An Interventional Case Report and Literature Review.

Purpose: To report a case of eosinophilic granulomatosis with polyangiitis (EGPA) initially presenting as orbital involvement, describe its successful management, and provide a comprehensive literature review.

Case Report: A 33-year-old female patient presented with swelling, redness, tenderness, and a mass under the left upper eyelid for one month. Upper lid eversion showed a multilobulated lesion in the subconjunctival area of the same region.

X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.

X-linked hypophosphatemia (XLH) is a rare and progressive disease, due to inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. These pathogenic variants result in elevated circulating levels of fibroblast growth factor 23 (FGF23), responsible for the main clinical manifestations of XLH, such as hypophosphatemia, skeletal deformities, and mineralization defects. However, XLH also involves muscular disorders (muscle weakness, pain, reduced muscle density, peak strength, and power).

The X-Age Project to construct a Chinese aging clock.

The global surge in the population of people 60 years and older, including that in China, challenges healthcare systems with rising age-related diseases. To address this demographic change, the Aging Biomarker Consortium (ABC) has launched the X-Age Project to develop a comprehensive aging evaluation system tailored to the Chinese population. Our goal is to identify robust biomarkers and construct composite aging clocks that capture biological age, defined as an individual's physiological and molecular state, across diverse Chinese cohorts.

[Sodium-Glucose Cotransporter-2 (SGLT-2) inhibitors in perioperative medicine : Effects, side effects and current recommendations].

Sodium-glucose Cotransporter 2 (SGLT-2) inhibitors are oral antidiabetic drugs that were developed for the treatment of patients with diabetes mellitus and are now also approved for treating chronic heart failure and chronic kidney disease. By inhibiting SGLT‑2 in the proximal renal tubule, urinary excretion of glucose is increased. Large randomized trials have demonstrated improved glycemic control, reduced cardiovascular events and lower mortality but also an increased risk of urogenital infections and dehydration.

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Primary microcephaly, a rare congenital condition characterized by reduced brain size, occurs due to impaired neurogenesis during brain development. Through whole-exome sequencing, we identified compound heterozygous loss-of-function mutations in CENTRIN 3 (CETN3) in a 5-year-old patient with primary microcephaly. As CETN3 has not been previously linked to microcephaly, we investigated its potential function in neurodevelopment in human pluripotent stem cell-derived cerebral organoids.

Indications for haematopoietic cell transplantation and CAR-T for haematological diseases, solid tumours and immune disorders: 2025 EBMT practice recommendations.

For over two decades, the EBMT has updated recommendations on indications for haematopoietic cell transplantation (HCT) practice based on clinical and scientific developments in the field. This is the ninth special EBMT report on indications for HCT for haematological diseases, solid tumours and immune disorders. Our aim is to provide guidance on HCT indications according to prevailing clinical practice in EBMT countries and centres.

Discovery of a selective alpha-kinase 1 inhibitor for the rare genetic disease ROSAH syndrome.

ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome is a rare genetic disease caused by variants in alpha-kinase 1 (ALPK1) resulting in downstream pro-inflammatory signaling mediated by the TIFA/TRAF6/NF-κB pathway. Here, we report the design of an ALPK1 inhibitor, DF-003, with pharmacokinetic properties suitable for daily oral dosing. In biochemical assays, DF-003 potently inhibits human ALPK1 (IC = 1.

Primary bladder diffuse large B-cell lymphoma: A rare case report.

Introduction: Diffuse large B-cell lymphoma (DLBCL), a common subtype of non-Hodgkin lymphoma (NHL), originates primarily from lymph nodes, with a small proportion arising extranodally in sites such as the gastrointestinal tract and central nervous system. Given the general absence of lymphoid tissue in the bladder, primary bladder DLBCL is exceptionally rare.

Case Presentation: This case report describes an 83-year-old male patient with a bladder mass, initially suspected as cystitis glandularis, ultimately diagnosed via pathological examination as DLBCL.

Sarcopenia-A Valuable Imaging Biomarker for Disease Progression in Patients With Primary Sclerosing Cholangitis (PSC)?

Background And Aims: We aimed to ascertain the prevalence of sarcopenia in patients with primary sclerosing cholangitis (PSC) and to assess the prognostic value as a biomarker for disease outcome.

Methods: We collected data from 224 patients (148 male, 76 female; mean age 41 years) from January 2002 to December 2021, with a confirmed diagnosis of PSC who underwent magnetic resonance imaging (MRI). Muscle mass was quantified at the level of the third lumbar vertebra by measurement of psoas muscle thickness (PMT) and total psoas muscle area (PMA).

Distinctive Progression Patterns of Brain Structural Damage Aid Classification of Frontotemporal Dementia Variants.

Background: Frontotemporal dementia (FTD) encompasses diverse clinical phenotypes, primarily characterized by behavioral and/or language dysfunction. A newly characterized variant, semantic behavioral variant FTD (sbvFTD), exhibits predominant right temporal atrophy with features bridging behavioral variant FTD (bvFTD) and semantic variant primary progressive aphasia (svPPA). This study investigates the longitudinal structural MRI correlates of these FTD variants, focusing on cortical and subcortical structural damage to aid differential diagnosis and prognosis.

Comparative Cochlear Transcriptomics in Echolocating Bats and Mouse Reveals Hras as Protector Against Noise-Induced Hearing Loss.

Noise-induced hearing loss (NIHL), caused by irreversible cochlear hair cell (HC) damage, lacks effective therapies due to a limited understanding of endogenous protective mechanisms. The echolocating bats exhibit natural resistance to intense noise, and this suggested novel insights into methods to protect against NIHL. Here, through comparative transcriptomic analysis of noise-exposed cochleae from the eastern bent-winged bats (Miniopterus fuliginosus) and mice, the specific transcriptional dynamics in noise-resistant Miniopterus fuliginosus are revealed, thus highlighting potential mechanisms for preventing cochlear damage that mouse models cannot replicate, with Hras emerging as the most significant hub upregulator.

Unexpected Diagnosis in a Cutaneous Tumoral Lesion: Primary Cutaneous Leg-Type B-Cell Lymphoma.

Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT), is an uncommon and aggressive subtype of cutaneous B-cell lymphoma, typically affecting elderly women and predominantly involving the lower extremities. Its diagnosis relies on immunohistochemical profiling and clinical presentation. We report a rare case of a 45-year-old male presenting initially with scalp and supraciliary plaques.

Obinutuzumab-induced severe acute thrombocytopenia: a case report and literature review.

Obinutuzumab is a humanized type II anti-CD20 monoclonal antibody that is widely used in B-cell lymphomas including follicular lymphoma (FL) and chronic lymphocytic leukemia (CLL). Multiple clinical studies have shown that compared with rituximab combined with chemotherapy, obinutuzumab combined with chemotherapy can significantly improve the progression-free survival (PFS) of patients, effectively reduce the risk of disease progression, and improve patient prognosis. The main adverse effects of obinutuzumab include infusion reactions, myelosuppression, infection, cardiotoxicity, tumor lysis syndrome (TLS), etc.

Reversing PAI-1 deficiency in blood using mRNA lipid nanoparticles.

Plasminogen activator inhibitor-1 (PAI-1) deficiency is a rare disorder that causes moderate to severe bleeding and cardiac fibrosis, caused by mutation in the gene and no detectable circulating PAI-1 protein. There are currently no therapies that can effectively replace PAI-1 because the protein has a short half-life. An alternative approach to using recombinant protein is to endogenously increase circulating PAI-1 levels using mRNA therapy.

Diagnostic Accuracy of Oligoclonal Bands for CNS Autoimmune Disorders in Acutely Ill Adults.

Background And Objectives: The presence of oligoclonal bands (OCBs) indicates an augmented immune response within the CNS and is integral to the diagnosis of multiple sclerosis (MS). Expert consensus panels recommend OCB testing for conditions other than MS, despite limited data to suggest diagnostic value. Our objectives were to evaluate the spectrum of disease etiologies associated with OCBs and determine the accuracy of OCBs in identifying autoimmune disorders affecting the CNS.

A case report on Ayurvedic management of progressive bulbar palsy-A rare amyotrophic lateral sclerosis phenotype.

This case report is the description of a devastating illness, Progressive Bulbar Palsy (PBP) of a sixty-seven years old male patient. He presented with complaints of slurred speech, hearing impairment, generalised weakness of limbs, weakened grip to hold objects in hand, difficulty to walk with normal speed, frequent dizzy feeling while walking, severe fatigue, increased anger, heaviness of head, depression, anxiety, decreased memory and headache for 1 year. When he consulted conventional medicine, in Magnetic Resonance Imaging (MRI) of brain, only 'Partial empty sella' and age related mild cerebral atrophy was detected and the patient was diagnosed PBP clinically.

Mineralocorticoid effects of fludrocortisone and hydrocortisone in primary adrenal insufficiency: EU-AIR patient data.

Purpose: Patients with primary adrenal insufficiency (PAI) require mineralocorticoid replacement therapy in addition to glucocorticoids. These therapies should be considered in combination because most glucocorticoids also possess mineralocorticoid activity. We aimed to investigate the relationship between fludrocortisone and hydrocortisone-equivalent dosing in patients with PAI.

Fractures are Highly Correlated with Bone Density and Inversely Correlated with Bone Turnover Markers in Autosomal Dominant Osteopetrosis.

Autosomal Dominant Osteopetrosis (ADO) is a rare, osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, resulting in impaired osteoclastic bone resorption. Penetrance is incomplete and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture.

Corynebacterium amycolatum: an underestimated pathogen in early-onset neonatal sepsis-a case report.

Background: Early-onset neonatal sepsis (EOS) is a critical condition primarily caused by maternal-fetal transmission of bacterial pathogens during delivery, with Escherichia coli and Group B Streptococcus being the most prevalent. However, neonatal sepsis can also involve other rare bacteria, including Corynebacterium amycolatum, which was first described in 1988 and is widely recognized as an emerging pathogen in infectious diseases.

Case Presentation: A male infant was admitted to the neonatal intensive care unit (NICU) due to premature birth and tachypnea.

Pridopidine in early-stage manifest Huntington's disease: a phase 3 trial.

Huntington's disease (HD) is a rare, neurodegenerative disorder for which only symptomatic treatments are available. The PROOF-HD study was a randomized, double-blind, placebo-controlled phase 3 trial evaluating the efficacy and safety of pridopidine, a selective Sigma-1 receptor agonist, in HD. The primary and key secondary endpoints, change in total functional capacity (TFC) and composite Unified Huntington's Disease Rating Scale (cUHDRS) score at week 65, were not met in the overall population.

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.

Overall adiposity and body fat distribution are heritable traits associated with altered risk of cardiometabolic disease and mortality. Performing rare-variant (minor allele frequency <1%) association testing using exome-sequencing data from 402,375 participants of European ancestry in the UK Biobank for nine overall and tissue-specific fat distribution traits, we identified 19 genes where putatively damaging rare variation associated with at least one trait (Bonferroni-adjusted p < 1.58 × 10) and 50 additional genes at false discovery rate (FDR) ≤1% (p ≤ 4.

A multicenter retrospective analysis of recurrent/metastatic nasopharyngeal cancer from non-endemic areas: Results in the pre-immunotherapy era.

Aim Of The Study: The aim of the study is to describe clinical features, treatment approach and outcomes of recurrent/metastatic (R/M) NPC in non-endemic areas MATERIALS AND METHODS: This observational, retrospective and multicenter study was conducted within 36 referral hospital in non-endemic areas including Europe, Jordan, Kuwait, Turkey and United States of America. All NPC patients diagnosed between 2004 and 2016 and with a minimum 12 months of follow-up were included. Data entry started in January 2018 and closed in December 2023.