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Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Miller syndrome is an extremely rare condition in the group of facial dysostosis syndromes. These syndromes have great phenotypic overlap and variability, even within families. To facilitate the differentiation of Miller syndrome from related facial dysostosis syndromes, such as Treacher Collins and Nager syndrome, this study aims to provide an overview of the phenotypic spectrum of the syndrome. A systematic literature search of Embase, MEDLINE/PubMed, Web of Science, and CINAHL was conducted until November 2024. Case reports and case series of patients with a clinical or genetic diagnosis of

Interstitial Cystitis/Bladder Pain Syndrome Patient Phenotyping.

AIMS: In April of 2025, the Wake Forest Institute for Regenerative Medicine hosted a Global Consensus meeting on IC/BPS in Winston-Salem, NC … with IC/BPS populate broad groups that have been characterized as having a bladder-focused disease phenotype (bladder-centric), a widespread pain and symptoms phenotype (systemic), or by other variable phenotypes including those with myofascial pelvic pain. In this review, we discuss the published evidence supporting each of these patient phenotypic groups …

Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant.

OBJECTIVE: To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses diagnosed in utero with a PTEN variant. METHOD: This retrospective study analyzed 14 cases of PTEN variants identified through prenatal ultrasound and subsequently confirmed by genetic testing. Clinical and laboratory data were collected for these cases, encompassing maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes. RESULTS: A total of 14 fetuses with (likely) pathogenic PTEN variants were included in the study. Five cases exhibit

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Pathogenic variants in nine genes (AGS1-9) were mainly reported in patients with Aicardi-Goutières syndrome (AGS), which is a genetic disord … thic hypoparathryroidism is associated with pathogenic variant of SAMHD1. As such, this extends the phenotypes linked to SAMHD1 (likely) pathogenic variants. We also summarize the extra-neurologic manifestations associated with AGS genes-related disorders. Thus, by facilitating early diagnosis, counselling and health surveillance of these patients are impro …

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked condition caused by pathogenic variants in the SLC16A2 gene, resulting in dysfunctional thyroid hormone transport throughout the body. Human Phenotype Ontology (HPO) terms provide a standardized clinical vocabulary of symptomology in human disease. Here, we contribute a cohort of individuals with fully categorized SLC16A2 variants and associated HPO terms to the phenotypic spectrum of MCT8 deficiency. We queried de-identified genetic data for SLC16A2 variants mostly determined through exome sequencing. Clinical abstraction of …

Phenotypic variability in cystinosis: Lessons from an atypical case.

Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and multisystem involvement. In addition to symptomatic treatment, early initiation of cysteamine therapy and its strict adherence are essential to delay kidney failure and minimize extrarenal complications. We report the case of a 28-year-old woman diagnosed with infantile cystinosis at two years of age, treated with oral and topical cysteamine since then.

Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a complex endocrinopathy, which leads to ovulation dysfunction and infertility, as well as metabolic and mental disorders. Women with PCOS exhibit several characteristic symptoms, with marked heterogeneity across different races and ethnicities. METHODS: In this review, the author outlines the phenotypic disparities of PCOS among various racial and ethnic populations. First, the prevalence of major symptoms in different racial and ethnic groups with PCOS is summarized. Next, the effects of four phenotypes, derived from the Rotterdam criteria for…

Dynamic macrophage phenotypes in autoimmune and inflammatory rheumatic diseases.

Macrophages regulate inflammatory and fibrotic processes in several autoimmune and inflammatory rheumatic diseases. They are highly plastic cells, shifting within a range of pro-inflammatory and anti-inflammatory or pro-fibrotic phenotypes in response to dynamic interactions with other cells, environmental factors and cytokine signatures. The terms 'M1 macrophages', or classically activated, and 'M2 macrophages', or alternatively activated, were previously used to denote pro- and anti-inflammatory macrophage subsets, respectively, but this classification system has been outdated by in vivo evi…

Astrocyte SEMA3C reduction improves Rett Syndrome phenotypes.

During typical neurodevelopment, astrocytes secrete proteins that support neuronal connectivity. This process is disrupted in Rett Syndrome (RTT), a regressive neurodevelopmental disorder characterized by motor, sensory, and cognitive impairments. While astrocytes typically promote neuron outgrowth, co-culture of RTT astrocytes with wildtype neurons inhibits their outgrowth, implicating secreted astrocyte factors in RTT pathology. However, the specific factors and their contributions to RTT deficits remain poorly defined. To address this, we focused on the class 3 semaphorin SEMA3C, which show

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

Pathogenic variants in ADAMTSL4 are an important cause of isolated ectopia lentis with an increasing number of genetically confirmed cases internationally. We sought to better describe ocular features seen with pathogenic variants in ADAMTSL4. We performed a retrospective, multicenter study examining the phenotypic and genotypic spectrum of ADAMTSL4-associated ocular disease. We identified 41 individuals from 32 families with genetically confirmed ADAMTSL4-related disease across six tertiary referral centers across Europe. Identified participants had a young age of diagnosis (median 1.3 years)

Phenotyping Chronic Pain and Neuropathic Pain in Population Studies.

BACKGROUND AND OBJECTIVE: Chronic pain is a major global health challenge with substantial individual and societal burden. Epidemiological s … ng by International Consensus (NeuroPPIC) project, which aimed to offer a standardised and scalable phenotype suitable for epidemiological and genetic research. We also briefly reviewed other, modern approaches to phenotyping that have been developed, which combine large population samples, data integration and advanced statistical modelling, with the promi …

Construction and phenotypic analysis of p2rx2 knockout zebrafish lines.

OBJECTIVES: The purinergic receptor P2X2 (P2RX2) encodes an ATP-gated ion channel permeable to Na+, K+, and especially Ca²⁺. Loss-of-functio … ating its key role in maintaining zebrafish auditory hair cell function and hearing perception. The phenotype's restriction to the otolith region suggests tissue-specific roles of p2rx2 in sensory organs. This model provides a valuable tool for elucidating the molecular mechanisms of P2RX2-related hearing loss and for screening otoprotective drugs and devel …

Trichophyton rubrum Phenotypic Virulence Factors in Mexican Strains.

(1) Background: T. rubrum is the most important agent in tinea pedis, tinea manuum, tinea cruris, tinea corporis, and even in subcutaneous dermatophytosis. T. rubrum must overcome several obstacles to adhere, grow, and invade the host, for which their virulence factors are important. Previous studies have demonstrated the capability of T. rubrum strains to produce proteases, phospholipases, hemolysins, and elastases. The aim of this work was the genotypic identification of clinical isolates of T. rubrum to subsequently determine production of the main phenotypic virulence factors associated wi

Expanding Training Data for Endoscopic Phenotyping of Eosinophilic Esophagitis.

Eosinophilic esophagitis (EoE) is a chronic esophageal disorder marked by eosinophil-dominated inflammation. Diagnosing EoE usually involves … for more prevalent diseases. This study seeks to improve the performance of deep learning-based EoE phenotype classification by augmenting our training data with a diverse set of images from online platforms, public datasets, and electronic textbooks increasing our dataset from 435 to 7050 images. We utilized the Data-efficient Image Transformer for image c …

Physicochemical, genomic, and phenotypic characterization of Escherichia phage BME3.

Infections caused by pathogenic Escherichia coli strains are increasing, and with the rising of antimicrobial resistance among bacterial pathogens, alternative therapeutic options are being actively explored, including phage therapy. In this research, a new bacteriophage, provisionally named BME3, with lytic activity against Escherichia coli was identified and characterized at the physicochemical, morphological, and genetic levels. BME3 was isolated from the tropical estuarine waters of Estero Salado, Guayaquil, Ecuador. Subsequently, it was purified and amplified, followed by a series of test

Фенотиирование и описание профилей людей с множественным склерозом.

Гейтские расстройства относятся к числу наиболее неблагоприятных симптомов у людей с множественным склерозом (PwMS), что существенно влияет на качество жизни, автономию и участие. В расширенной шкале статуса инвалидов (EDSS) фиксируются дефекты - особенно пирамидальные, мозговые и сенсорные - которые влияют на походку. Количественный анализ походов позволяет объективно изучить эти модели, подкрепляющие индивидуализированные стратегии. Цель этого исследования состояла в том, чтобы охарактеризовать профили походов в рамках PSMS на основе функциональных оценок, полученных с помощью ЭДСС. В ходе э

Картирование клеточной этиологии шизофрении и сложных фенотипов мозга.

Психиатрические расстройства являются многофакторными, а эффективные методы лечения отсутствуют. К числу возможных факторов, способствующих решению проблем в области терапевтического развития, относятся сложность человеческого мозга и высокая полигеничность психических расстройств. Сочетание хорошо мощного генома в масштабах всего мозга и анализа генетики и транскриптомики может углубить наше понимание этиологии психических расстройств. Здесь мы используем два важных ресурса для определения типов клеток, связанных с этиологией шизофрении, другими психическими расстройствами и информативным соп

Совпадение в аннотации оригинала
Psychiatric disorders are multifactorial and effective treatments are lacking. Probable contributing factors to the challenges in therapeuti … d in the etiology of schizophrenia, other psychiatric disorders and informative comparison of brain phenotypes. We found both cortical and subcortical neuronal associations for schizophrenia, bipolar disorder and depression. These cell types included somatostatin interneurons, excitatory neurons from the retrosplenial cortex and eccentric medium spiny-like …

Phenotypic differences in airway obstruction as determined by VOTE score.

OBJECTIVE: The objective if this study was to investigate phenotypic differences in airway obstruction, as determined by VOTE score, in a co … scores and patient demographics, a cluster analysis was performed, in which two distinct clusters (phenotype 1 and phenotype 2) arose. Phenotype 1 patients had lower overall VOTE scores (p < 0.001), less obstruction at the velum (p < 0.001) and oropharynx (p < 0.001), significantly more tongue obstruction (p = 0.031), and a significantly lower BMI (p = 0.0 …

ANTsX neuroimaging-derived structural phenotypes of UK Biobank.

UK Biobank is a large-scale epidemiological resource for investigating prospective correlations between various lifestyle, environmental, and genetic factors with health and disease progression. In addition to individual subject information obtained through surveys and physical examinations, a comprehensive neuroimaging battery consisting of multiple modalities provides imaging-derived phenotypes (IDPs) that can serve as biomarkers in neuroscience research. In this study, we augment the existing set of UK Biobank neuroimaging structural IDPs, obtained from well-established software libraries s…

Cerebral visual impairment: genetic diagnoses and phenotypic associations.

BACKGROUND: Cerebral visual impairment (CVI) is the most common form of paediatric visual impairment in developed countries. CVI can arise f … enes already have known associations with CVI, while the remaining 148 are candidate genes for this phenotype. Gene ontology analysis of the CVI gene sets from both DECIPHER and 100KGP suggests that CVI has a similar degree of genetic heterogeneity to other neurodevelopmental phenotypes, and a strong association with genetic variants converging on ion chann …