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Updates to gene-disease classifications and inheritance patterns for porphyrias.

The heme synthesis pathway consists of eight enzyme-catalyzed steps, and pathogenic variants in the genes encoding these enzymes cause porphyrias. Diagnosis of certain porphyrias is often significantly delayed, due to their episodic and nonspecific symptoms that mimic more common conditions. To improve genetic diagnostics, which are increasingly used as a first-line approach, the ClinGen General Inborn Errors of Metabolism Gene Curation Expert Panel identified the need to perform gene-disease curations for all genes in this pathway. During this process, we found that several genes (HMBS, UROD,

Perovskite Manganites: An Overview of Synthesis, Classification, Characterization, and Applications.

Perovskite manganites (AMnO3) and perovskite-like manganites (A'1-xAxMnO3) are complex oxide materials that have attracted significant attention from the scientific community in recent years due to their structural flexibility, mixed-valence state, tunable electronic configuration, and multifunctional properties. This review systematically analyzes the synthesis methods, structural classification, and physicochemical characterization of perovskite manganites, as well as their magnetic, optical, electrical, dielectric, and catalytic properties. The influence of solid-state reactions, sol-gel, P…

Contemporary approach to diagnosis and classification of acute myeloid leukemia.

The term acute myeloid leukemia (AML) refers to a group of myeloid neoplasms characterized by maturation arrest, classically defined as ≥20% myeloblasts or myeloblast equivalents in the peripheral blood or bone marrow. In recent decades, a wealth of genetic information has reshaped our understanding of AML biology and enabled recognition of discrete molecular subgroups. However, questions remain, especially regarding which genetic lesions are class-defining and which are, at most, prognostic. These questions acquired particular salience with the advent of two classification systems, the 2022 I…

GLEAM: A Multimodal Imaging Dataset and HAMM for Glaucoma Classification.

Glaucoma is a leading cause of irreversible blindness worldwide, with asymptomatic early stages often delaying diagnosis and treatment. Early and accurate diagnosis requires integrating complementary information from multiple ocular imaging modalities. However, most existing studies rely on single- or dual-modality imaging, such as fundus and optical coherence tomography (OCT), for coarse binary classification, thereby restricting the exploitation of complementary information and hindering both early diagnosis and stage-specific treatment. To address these limitations, we propose glaucoma lesi…

The Impact of Follow-Up on Etiological Classification of Pediatric Vertigo.

Background: Vertigo and dizziness in children represent diagnostically challenging conditions with heterogeneous etiologies. At initial presentation, a substantial proportion of pediatric patients remain without a definitive etiological diagnosis. Evidence on the impact of longitudinal follow-up on etiological classification in pediatric vertigo is limited. Methods: This observational cohort study uses prospectively collected clinical data. Children aged 1-17 years who presented to a tertiary ENT clinic with vertigo and/or dizziness between 2015 and 2020 were systematically enrolled and follow…

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria.

This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane a … ilable. This updated version of the international guideline for urticaria covers the definition and classification of urticaria and outlines expert-guided and evidence-based diagnostic and therapeutic approaches for the different subtypes of urticaria.

Clustering and classification of soybean leaves based on angle features.

INTRODUCTION: Leaf shape is a genetically determined crop phenotype, and its accurate classification underpins soybean germplasm assessment and genetic improvement. Manual classification is highly subjective and struggles to distinguish morphologically similar leaves, while mainstream supervised classification demands large labeled datasets and incurs high development costs. Efficient feature frameworks for soybean leaf categorization are still insufficient. METHODS: In this study, 581 biologically replicated terminal leaflets sampled from 194 soybean varieties were analyzed at the single-lea…

A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.

OBJECTIVE: To investigate the prenatal ultrasonographic features of sirenomelia and perform classification, aiming to improve diagnostic accuracy during the early and mid-trimester. METHODS: Clinical data of pregnant women with a prenatal diagnosis of sirenomelia were retrospectively analyzed. The ultrasonographic characteristics were described, and cases were classified into three groups according to Stocker's classification: bipedal sympodia group (Group A, including types I, II, III), monopedal sympodia group (Group B, including types IV, V), and apodal sympodia group (Group C, including ty…

Understanding Hereditary Ataxias: A Historical Quest for Definition and Classification.

The classification of hereditary ataxias has evolved over two centuries, from anatomical descriptions to genetically informed frameworks. Initially grounded in clinicopathological observation, early models emphasized familial patterns and structural lesions. Key figures, including Gordon Holmes, Joseph Greenfield, and Anita Harding, shaped the nosology, culminating in Harding's inheritance-based classification in the 1980s. This model enabled significant genetic discoveries, including the identification of spinocerebellar ataxia type 1 (SCA1) and the emergence of the SCA nomenclature. However,…

[Risk classification and stratification in patients with premature ventricular contraction].

During a cardiological evaluation, premature ventricular contractions (PVCs) may be found, which require careful evaluation using diagnostic methods to discern in which patients there is a high risk of structural heart disease and sudden cardiac death. Epidemiological data show that PVCs occur in about 75% of healthy (or apparently healthy) individuals, without evidence of underlying structural heart disease. PVCs are generally asymptomatic, but can also manifest as palpitations, dyspnea, syncope and fatigue. The first clinical management includes a clinical evaluation, anamnesis and a 12-lead

Cryoglobulinemia: An update on classification, pathophysiology, clinical presentation, and management.

Cryoglobulinemia (CG) is defined by the presence of serum immunoglobulins that precipitate below 37°C and redissolve upon rewarming. It is classified into three types based on immunoglobulin composition. Type I, a rare form, involves monoclonal IgM or IgG and is linked to lymphoproliferative disorders. Types II and III are known as mixed CG (MC): Type II consists of polyclonal IgG and monoclonal IgM with rheumatoid factor (RF) activity, whereas Type III includes polyclonal IgG and polyclonal IgM with RF activity. MC is predominantly associated with hepatitis C virus (HCV) infection and involve

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… Table 1 Classification of cryoglobulinemia. … Preliminary classification criteria for the cryoglobulinaemic vasculitis . …

Advances in imaging modalities and tumor classification for vestibular schwannomas.

PURPOSE: Vestibular schwannomas are benign tumors of the cerebellopontine angle that may causesignificant neurological morbidity. Magnetic resonance imaging (MRI) remainsthe diagnostic gold standard; however, recent advances in neuroradiologictechniques have improved lesion characterization and refined surgical planning.This review summarizes contemporary imaging developments and their clinicalrelevance in the management of vestibular schwannomas. METHODS: A narrative review of the literature over the past two decades was conducted to identifykey radiographic advances and classification syste…

Castleman disease: application of modern classification in a Canadian center.

BACKGROUND: CD (Castleman disease) is a rare and heterogeneous condition that poses a diagnostic and management challenge. Classification of CD has changed dramatically in recent years. This study aims to describe our experience with diagnosis and treatment of CD at a center in Canada. RESEARCH DESIGN AND METHODS: We conducted a retrospective study of our cohort of CD patients evaluated and treated at the University of British Columbia between 2016-2025. RESULTS: A total of 23 patients with biopsy-confirmed CD were included. 7/23 had unicentric CD (UCD), 1/23 had Oligocentric CD (OligoCD), a…

Classification of outcomes in antimalarial therapeutic efficacy studies with Aster.

Reliable assessment of antimalarial drug efficacy is crucial for an effective response to emerging drug resistance, and therapeutic efficacy studies (TESs) are the primary means of estimating in vivo efficacy. The accuracy of such estimates rests on correctly classifying recurrent infections developed during follow-up as recrudescences or new infections. Genotyping is used to guide classification, but polyclonal infections and alleles matching by chance make classification challenging, especially in high transmission settings. Match-counting algorithms currently recommended by the World Health…

Shock: Pathophysiology, Classification, and the Role of Lactate in Diagnosis and Prognosis.

Shock is a life-threatening state of circulatory failure characterized by inadequate tissue oxygen delivery and cellular hypoxia. Lactate ha … chondrial dysfunction, and impaired hepatic clearance. This review examines the pathophysiology and classification of shock, the biochemical basis of lactate production and clearance, and the prognostic significance of both static lactate levels and lactate kinetics. We synthesize evidence supporting lactate as a robust prognostic marker while highlighting limit …

A machine learning approach for saddle height classification in cycling.

BACKGROUND: Saddle height is an important factor in bike fitting because it correlates with cycling efficiency and the risk of injuries. Con … kle joint angles. The sagittal plane knee angle was the most sensitive to the saddle height, with a classification accuracy of 80%. The k-nearest neighbor model had the highest accuracy of 99.79% when using all the optimal features as inputs. CONCLUSION: The proposed model compensates for the lack of consideration in traditional methods of individual dynamic va …

Evaluating the Role of Morphological Subtypes in the Classification of Periampullary Adenocarcinomas.

Background: Morphological subclassification may refine prognosis after curative pancreaticoduodenectomy (PD) for periampullary cancers. Methods: We conducted a single-center retrospective cohort including 120 consecutive PDs performed between 2005 and 2022. Tumors were classified as intestinal (INT), pancreatobiliary (PB), or pancreatic ductal adenocarcinoma (PAN). Clinicopathologic variables included T stage, margin status, lymphovascular and perineural invasion, and lymph node ratio (LNR; cutoff 0.154 determined by ROC/Youden). Overall survival (OS) was the primary endpoint and was analyzed …

ESUR consensus MRI for endometriosis: indications, reporting, and classifications.

OBJECTIVE: To propose an update of ESUR endometriosis guidelines to reflect advances in MRI indications, reporting, and classifications. METHODS: The ESUR Research Committee appointed two chairs (I.T.N., L.M.) to supervise the development of the updated guidelines. Following literature research, a survey was delivered to 20 experts in gynecological imaging from 10 countries. Two rounds of surveys were conducted to obtain a consensus according to a Delphi process method. In this article, the results regarding MR indication, the use of standardized reports, and classifications are presented RES…

Intraocular seeds in retinoblastoma: A review of classification, management, and outcomes.

Intraocular seeds in retinoblastoma are formed from dispersion of the tumor into the adjacent liquid or semiliquid compartments. They are highly resistant to traditional treatment modalities and remain the most important cause of treatment failure. Intraocular seeds can be focal or diffuse in the vitreous, retrohyaloid, subretinal or aqueous compartments. Intravitreal and intracameral chemotherapy with melphalan and/or topotecan have allowed targeted drug delivery in desired concentration to achieve improved outcomes of seed regression and globe salvage. Group E disease, diffuse and recurrent