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Clinical phenotype matters: structural and functional thalamic changes in neuropathic low-back pain.

Neuropathic chronic low-back pain (neuCLBP) is associated with worse clinical outcomes compared with non-neuropathic or axial CLBP (non-neuC … icity patterns. The findings also highlight the importance of distinguishing between these clinical phenotypes to reduce heterogeneity in future studies.

Gender, clinical phenotype and imaging features of patients with late-onset psoriatic arthritis.

OBJECTIVE: Psoriatic arthritis (PsA) is a chronic inflammatory disease affecting the musculoskeletal system. This study aimed to compare the … uency of peripheral polyarthritis and bone erosion. Age of onset is of great value in revealing the phenotypes and prognosis of PsA. Key Points • The age of onset plays a crucial role in the classification and prognosis of PsA. • The late onset of PsA is due to the delayed onset of PsO and the prolonged duration for PsO to progress into arthritis. • Late-on …

Single cell mapping identifies a distinct platelet-phenotype in psoriatic type III inflammation.

The understanding of platelet biology is expanding beyond their well-established role in thrombosis and hemostasis to encompass their functions in inflammation. To gain insights into the phenotype and possible platelet-subgroups in the context of type III inflammation, high-parametric single cell spectral flow cytometry was applied to a prospectively followed cohort of psoriasis patients undergoing systemic therapy. By focusing on the activation profile of platelets and their interaction with immune cells, we identify cell-surface proteins CD32+CD154+ and TLR2+TLR4+, distinguishing unique plat…

Hyaluronan composite bioink preserves nucleus pulposus cell phenotype in a stiffness-dependent manner.

Intervertebral disc degeneration is a major cause of neck and back pain, representing a significant global socioeconomic burden. The polysac … s. Our results show that modulating hyaluronan physico-chemical properties influenced embedded cell phenotype. The outcomes of this study inform the future design of biomaterials for the modelling of disc disease and regeneration, and present a versatile platform that can be readily integrated with other biofabricated components to form engineered intervert …

[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].

OBJECTIVE: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. METHODS: A child who had … e hotspot mutations of this disease, albeit with no definitive correlation between the genotype and phenotype.

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome.

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) is caused by a pathogenic variant in the magnesium transporter 1 (MAGT1) gene. The defect leads to impaired N-glycosylation which affects various immune processes. In this study, we described the disease course, clinical features and laboratory parameters observed in six patients from three families diagnosed with XMEN syndrome. They exhibit heterogeneous clinical manifestation while displaying typical laboratory signs of the disease, including decreased surface expression of NKG2D and CD2

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare hereditary disorder affecting mucociliary clearance due to ciliary dysfunction. This study aimed to confirm PCD diagnosis in clinically suspected Egyptian individuals and assess genotype-phenotype correlations. METHODS: 73 PCD-suspected individuals underwent clinical examination, radiological evaluation (chest and sinus CT), and Next-Generation Sequencing (NGS) for a PCD multigene panel. Immunofluorescence (IF) analysis was used to confirm the pathogenicity of identified variants. RESULTS: Consanguinity was reported in 91.9% of cases, …

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

BACKGROUND: Adenosine deaminase 2 deficiency (DADA-2) is an autoinflammatory syndrome caused by mutations in the ADA2 gene. ADA-2 functions … gulation. Inflammatory and immunodeficiency-related findings were also observed, suggesting a mixed phenotype as the most common presentation. Genotype-phenotype analysis showed that patients with undetectable ADA2 enzyme activity or loss-of-function mutations had more severe hematological involvement. In contrast, a patient with residual enzyme activity ex …

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

BACKGROUND: Osteodysplastic syndromes comprise a very diverse group of clinically and genetically heterogeneous disorders characterized by defects in bone and connective tissue development, as well as in bone density. Here, we report the case of a 48-year-old female with a complex medical history characterized by bone dysplasia, hyperostosis, and partial tooth agenesis. METHODS: Genetic testing was performed using WES analysis and Sanger sequencing. Molecular modeling analysis and dynamics simulation explored the impact of detected pathogenic variants. RESULTS: The genetic analysis detected

Genotype-Phenotype Distinctions in Spastic Paraplegia 4 Reveal HDAC6 as a Therapeutic Target.

Spastic Paraplegia 4 (SPG4) is the most prevalent form of Hereditary Spastic Paraplegia (HSP), a neurodegenerative disorder characterized by … oviding a robust platform to study SPG4 pathophysiology. These organoids revealed striking genotype-phenotype distinctions, with mutation-specific variations in CSMN loss, axonal degeneration and neuronal activities, mirroring clinical heterogeneity. Mechanistic studies identified aberrant activation of histone deacetylase 6 (HDAC6), a major neuronal microt …

High-throughput cytological profiling uncovers genotype-phenotype associations in Mycobacterium tuberculosis clinical isolates.

UNLABELLED: Understanding the functional impact of bacterial genetic diversity is crucial for linking pathogen variants to clinical outcomes … plied to 64 Mtb clinical isolates from lineages 1, 2, and 4, the approach revealed that cytological phenotypes recapitulate genetic relationships and exhibit both lineage- and density-dependent dynamics. Notably, we identified a link between a convergent "small cell" phenotype and a convergent ino1 mutation that is associated with the presence of an antisen …

Доклад по делу: Воспаление фенотипа CADASIL, связанного с редким вариантом NoTHH3.

Мы представляем 50-летнюю женщину, которая имеет давнюю историю мигрени с аурой. Она пережила один эпизод частичной потери визуального поля, связанный с небольшим острым/субочное повреждением коры и субкортической белой материи (показание контрастного усиления), наряду с обширной гиперинтенсивностью белой материи. Исходя из этих выводов, КАДАСИЛ был подозреваем. Генетические тесты выявили редкий гетероговый вариант NETCH3 (c.6102dup, p.Gly2035Argfs*60), который в настоящее время классифицируется как вариант неопределенного значения. Анализ конъюнктурной цереброспинарной жидкости показал повыше

Совпадение в аннотации оригинала
We present a 50-year-old female who has a longstanding history of migraine with aura. She experienced one episode of partial visual field lo … patient's clinical presentation and comprehensive findings raise the possibility of an inflammatory phenotype potentially associated with the rare NOTCH3 c.6102dup variant, though causation remains unclear. Coexistence with another demyelinating central nervous system disease is possible, and further research is needed to clarify this relationship. If infla …

Engineered 3D Hydrogel Matrices to Modulate Trophoblast Stem Cell-Derived Placental Organoid Phenotype.

Placental organoid models are a promising platform to study human placental development and function. Organoid systems typically use natural … atrigel matrices drive syncytiotrophoblast and extravillous trophoblast-dominant placental organoid phenotypes, respectively. Further, three-dimensional (3D) environments promoted greater integrin expression and ECM production than 2D culture. This study demonstrates that engineered 3D culture environments can be used to reliably generate placental organoid …

Placental Transcriptome Analysis in Connection with Low Litter Birth Weight Phenotype (LBWP) Sows.

It is possible to identify sub-populations of sows in every pig herd that consistently give birth to low birth weight (BW) piglets, irrespective of the litter size. A previous study from our group demonstrated that placental development is a main factor affecting the litter birth weight phenotype (LBWP) in sows, thereby impacting the BW of entire litters, but the biological and molecular pathways behind this phenomenon are largely unknown. The aim of this study was to investigate the differential gene expression in placental tissues at day 30 of gestation between low LBWP (LLBWP) vs. high LBWP…

Ponatinib Induces a Procoagulant Phenotype in Human Coronary Endothelial Cells via Inducing Apoptosis.

BCR-ABL tyrosine kinase inhibitors (TKIs) are effective drugs in the treatment of patients with chronic myeloid leukemia. However, based on clinical studies, ponatinib was associated with the development of thrombotic complications. Since endothelial cells (ECs) regulate blood coagulation, their abnormal phenotype may play a role in the development of thrombotic events. We here aimed to investigate the effect of ponatinib on the procoagulant activity of cultured endothelial cells in vitro. Human coronary artery endothelial cells (HCAECs) were incubated with 50, 150, and 1000 nM of ponatinib. S…

Gut microbiota alterations are associated with phenotype and genotype in familial Mediterranean fever.

OBJECTIVE: FMF is the most common monogenic autoinflammatory disease associated with MEFV mutations. Disease phenotype and response to treatment vary from one patient to another, despite similar genotype, suggesting the role of environmental factors. The objective of this study was to analyse the gut microbiota of a large cohort of FMF patients in relation to disease characteristics. METHODS: The gut microbiotas of 119 FMF patients and 61 healthy controls were analysed using 16 s rRNA gene sequencing. Associations between bacterial taxa, clinical characteristics, and genotypes were evaluated …

Identification Of A Higher Risk Lymphedema Phenotype And Associations With Cytokine Gene Polymorphisms.

CONTEXT: Breast cancer-related lymphedema (BCRL) is chronic condition that occurs in 5% to 75% of women following treatment for breast cancer. However, little is known about the risk factors and mechanisms associated with a worse BCRL profile. OBJECTIVES: Identify distinct BCRL profiles in women with the condition (i.e., lower vs. higher risk phenotype) and evaluate for associations with pro- and anti-inflammatory genes. METHODS: Latent class profile analysis (LCPA) was used to identify the BCRL profiles using phenotypic characteristics evaluated prior to surgery. Candidate gene analyses wer…

Clinical Phenotype of Behavioral-Variant Frontotemporal Dementia Reversed by ECT: A Case Report.

INTRODUCTION: Diagnosis of frontotemporal dementia (FTD) remains difficult even in the presence of core clinical and imaging features. Furthermore, disease-modifying treatments are lacking. CASE PRESENTATION: Here, we report a case of a patient with clinical and imaging features of FTD. Electroconvulsive therapy (ECT) was used to target affective and catatonic symptoms. After ECT, the patient showed improvements not only in affective symptoms but also in cognitive domains, leading to a marked improvement in the patient's level of functioning. CONCLUSION: Against the background of diagnostic

Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration.

BACKGROUND: To elucidate the relationship between inherited retinal disease, visual acuity and refractive error development in Asian patients. SUBJECTS: Five hundred phakic eyes with refractive data were analysed in this retrospective cohort. Diseases were categorized by clinical phenotypes, and the prevalent genotypes identified in the Taiwan Inherited Retinal Degeneration Project were analysed. Consecutive surveys in Taiwan have provided the rates of myopia in the general population. RESULTS: No differences were observed among the disease phenotypes with respect to myopia (P = 0.098) and h…