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Расширение " Choroid Plexus " в вторичных прогрессивных MS: сопоставление фенотипов.

ВАЖНЕЙШЕЕ: Хороидный слексус (CP) все чаще признается в качестве фактора хронического воспаления при множественном склерозе (MS). В то время как о расширении ДС сообщается в ранних НР, его роль в вторичных прогрессивных НР (СМПС) малоизвестна. ЦЕЛЬ: Мы стремились к количественному определению объема ХП в СМПС и сопоставлению его с повторным выделением эмиссий MS (RRMS) и клинически изолированным синдромом (CIS), а также к оценке связей с серьезностью и прогрессированием заболеваний. МЕТОДЫ: Объемы ХП были ручным способом разделены и приведены в соответствие с внутричерепным объемом. Поправка н

Совпадение в аннотации оригинала
BACKGROUND: The choroid plexus (CP) is increasingly recognised as a contributor to chronic inflammation in multiple sclerosis (MS). While CP … lar volume, lesion burden, and brain atrophy. RESULTS: CP volume increased significantly across MS phenotypes: SPMS patients showed 26% higher CP volume than CIS (p=0.010) and 17% higher than RRMS (p=0.034). CP enlargement in SPMS was independent of ventricular size, indicating distinct underlying mechanisms. While lesion burden was the primary determinant …

Characterizing the hierarchical depression phenotype in sexually diverse individuals.

INTRODUCTION: Sexual diverse individuals are at high risk for internalizing psychopathologies, such as depression. Understanding how symptom profiles of heterogeneous psychiatric disorders such as depression differ for sexually diverse vs. heterosexual individuals is thus critical to advance precision psychiatry and maximize our ability to effectively treat members of this population. Research has failed to consider the possibility of hierarchical phenotypes, wherein sexual orientation status may be uniquely and simultaneously associated with both depression broadly and with individual symptom…

Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) codes for a type 2 transmembrane glycoprotein which hydrolyzes extracellular phosphoanhydrides into bio-active molecules that regulate, inter alia, ectopic mineralization, bone formation, vascular endothelial proliferation, and the innate immune response. The clinical phenotypes produced by ENPP1 deficiency are disparate, ranging from life-threatening arterial calcifications to cutaneous hypopigmentation. To investigate associations between disease phenotype and enzyme activity we quantified the enzyme velocities of 29 unique ENPP1 pat…

Effect of ACE mutations on blood ACE phenotype parameters.

BACKGROUND: Analysis of existing mutations of Angiotensin-I-Converting Enzyme (ACE) led us to hypothesize that the carriers of damaging ACE mutations (accompanied by low ACE levels) could be at risk for the development of late-onset Alzheimer's disease (AD). METHODOLOGY/PRINCIPAL FINDINGS: We quantified blood ACE levels in EDTA-containing plasma from 15 patients with 11 different heterozygous ACE mutations and estimated the effects of these mutations on ACE phenotypes, using a set of mAbs to ACE and two ACE substrates. We confirmed prior observations that the relatively frequent Y215C mutatio…

Productive cough, a forgotten phenotype of refractory chronic cough.

BACKGROUND: Refractory chronic cough (RCC) patients typically complain of a dry cough. Sputum production in these patients has rarely been d … e of work to our knowledge to describe this cohort. Future work needs to acknowledge this forgotten phenotype to ensure that they receive comprehensive evaluation and evidenced based treatment.

Improved CSW-YOLO Model for Bitter Melon Phenotype Detection.

As a crop with significant medicinal value and nutritional components, the market demand for bitter melon continues to grow. The diversity of bitter melon shapes has a direct impact on its market acceptance and consumer preferences, making precise identification of bitter melon germplasm resources crucial for breeding work. To address the limitations of time-consuming and less accurate traditional manual identification methods, there is a need to enhance the automation and intelligence of bitter melon phenotype detection. This study developed a bitter melon phenotype detection model named CSW-…

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied with in silico analyses, pathogenicity scores and molecular modeling of ALDH5A1 variants. Leading initial symptoms, with onset in infancy, were developmental delay and hypotonia. Year of birth and specif…

Defining the cardiovascular phenotype of adults with Alström syndrome.

BACKGROUND: >40% of infants with Alström Syndrome (AS) present with a transient, severe cardiomyopathy in the first months of life, with apparent recovery in survivors. One in five individuals then develop a later-onset cardiomyopathy but wide clinical variability is observed, even within the same family. The rationale for this study is to provide a comprehensive evaluation of the cardiovascular phenotype in adults with AS. METHODS: Adults attending the National Centre for AS in England were studied. All patients underwent biochemical, 12- lead electrocardiography, echocardiography, and cardi…

PHACEing a challenging diagnosis: Should we expand the phenotype?

PHACE syndrome is a challenging but important prenatal diagnosis due to its protean clinical consequences. The 'tilted telephone receiver' sign (TTRS), consisting of asymmetric cerebellar volume reduction and marked counterclockwise, Dandy-Walker-like upward vermis rotation on prenatal MRI and ultrasound has high specificity for PHACE. Recently, a case report of the prenatal imaging findings in an infant with PHACE described more mild upward vermis rotation and cerebellar clefting. It recommended consideration of expansion of the currently accepted phenotype to improve prenatal detection of th…

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF-1 microdeletion syndrome (28 type-1, 4 type-2, 2 type-3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features,

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.

Spinocerebellar ataxias (SCAs) are a diverse group of hereditary neurodegenerative disorders characterized by progressive degeneration of the cerebellum and other parts of the nervous system. In this study, we examined the genotype‒phenotype correlations in SCAs within the Brazilian population by leveraging a comprehensive dataset of 763 individuals from SARAH Network of Rehabilitation Hospitals. Using a retrospective, cross-sectional, observational, multicentric approach, we analysed medical records and conducted standardized molecular testing to explore epidemiological characteristics, clini…

Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa.

BACKGROUND: Genotype-phenotype associations in recessive dystrophic epidermolysis bullosa (RDEB) have been difficult to elucidate. OBJECTIVE: To investigate RDEB genotype-phenotype associations and explore a functional approach to genotype classification. METHODS: Clinical examination and genetic testing of RDEB subjects, including assessment of clinical disease by RDEB subtype and extent of blistering. Genotypes were evaluated according to each variant's effect on type VII collagen function per updated literature and subsequently categorized by degree of impact on VII collagen function as l…

Heart rate variability helps classify phenotype in systemic sclerosis.

We aimed to develop a systemic sclerosis (SSc) subtypes classifier tool to be used at the patient's bedside. We compared the heart rate variability (HRV) at rest (5-min) and in response to orthostatism (5-min) of patients (n = 58) having diffuse (n = 16, dcSSc) and limited (n = 38, lcSSc) cutaneous forms. The HRV was evaluated from the beat-to-beat RR intervals in time-, frequency-, and nonlinear-domains. The dcSSc group differed from the lcSSc group mainly by a higher heart rate (HR) and a lower HRV, in decubitus and orthostatism conditions. Stand-up maneuver lowered HR standard deviation (sd

Comparison of hypospadias phenotype pixel segmentation to GMS score.

BACKGROUND: Hypospadias phenotype assessment determines if the anatomy is favorable for reconstruction. Glans-Urethral Meatus-Shaft (GMS) has been adopted in an effort to standardize hypospadias classification. While extremely subjective, GMS has been widely used to classify the severity of the phenotype to predict surgical outcomes. The use of digital image analysis has proven to be feasible and prior efforts by our team have demonstrated that machine learning algorithms can emulate an expert's assessment of the phenotype. Nonetheless, the creation of these image recognition algorithms is hig…

Genotype and phenotype correlation of PHACTR1-related neurological disorders.

BACKGROUND: PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with de novo variants in PHACTR1 and analyse the impact of variants on protein-protein interaction. METHODS: We identified seven patients with PHACTR1 variants by trio-based whole-exome sequencing. Additional two subjects were ascertained from two centres through GeneMatcher. The genotype-phenotype correlation was determined, and AlphaFold-Multimer was used to predict …

Cardiovascular Complications in Pheochromocytoma and Paraganglioma: Does Phenotype Matter?

BACKGROUND: Adrenaline-producing tumors are mostly characterized by a sudden release of catecholamines with episodic symptoms. Noradrenergic ones are usually less symptomatic and characterized by a continuous overproduction of catecholamines that are released into the bloodstream. Their effects on the cardiovascular system can thus be different. The aim of this study was to determine the prevalence of cardiovascular complications by catecholamine phenotype. METHODS: We retrospectively analyzed data on the prevalence of cardiovascular events in 341 consecutive patients with pheochromocytoma an…

Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy.

BACKGROUND: Genetic cardiomyopathy is a rare disease in childhood. AIMS: To analyse clinical and genetic aspects of a paediatric cardiomyopathy population, and to establish genotype-phenotype correlations. METHODS: We performed a retrospective study of all patients with idiopathic cardiomyopathy aged<18years in Southeast France. Secondary causes of cardiomyopathy were excluded. All data (clinical, echocardiography, genetic testing) were collected retrospectively. Patients were classified into six groups: hypertrophic cardiomyopathy; dilated cardiomyopathy; restrictive cardiomyopathy; left ve…