Results 101 to 110 of about 253 (229)

Electronegative ERG or pseudo-negative ERG?

Documenta Ophthalmologica, 2022
Graham E. Holder, Omar Mahroo
openaire   +3 more sources

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Breast Angiosarcoma: 15‐Years Experience

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Breast angiosarcoma is a rare, aggressive malignancy that can be primary (PAS) or secondary (SAS). This study evaluates the management and outcomes of breast angiosarcoma in a single‐center breast/surgical oncology unit. Methods A retrospective review was conducted on patients with histologically confirmed PAS or SAS who underwent ...
Gaik Si Quah, Christopher Pyke, Christopher Allan   +2 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Gold‐standard evidence and best practice guidance for menstrual cycle‐informed clinical care: An overview for clinicians

British Journal of Clinical Psychology, EarlyView.
Abstract Objectives To synthesize current evidence and provide clinically actionable recommendations for integrating menstrual cycle‐related processes—particularly hormone sensitivity, Premenstrual Dysphoric Disorder (PMDD) and Premenstrual Exacerbation (PME)—into psychological assessment, formulation and treatment.
Ellen R. Lambert, Louise N. Nolan, Katja M. Schmalenberger   +2 more
wiley   +1 more source

Morphosyntatic aspects of relativization in shipibo-konibo (pano)

Boletim do Museu Paraense Emílio Goeldi. Ciências Humanas, 2006
The present article discusses crucial morpho-syntactic aspects of relative constructions in Shipibo-Konibo, a Panoan language spoken in the Peruvian Amazon. The analysis is predominantly based on data extracted from spontaneous texts.
Pilar Valenzuela Bismark
doaj  

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Muscarinic agonists for schizophrenia: Bridging preclinical evidence and clinical enthusiasm

British Journal of Pharmacology, EarlyView.
Abstract Antipsychotic drugs targeting dopamine receptors have been used to treat schizophrenia for decades, primarily alleviating positive symptoms such as hallucinations and delusions. However, they provide limited benefit for cognitive and negative symptoms—major contributors to poor outcomes—and are frequently associated with significant side ...
Brian J. Morris, Judith A. Pratt
wiley   +1 more source