Results 21 to 30 of about 8,470 (138)

The conundrum of sweet hyperopia [PDF]

British Journal of Ophthalmology, 2000
The diabetic patient presenting with changing refractive error is not uncommon. We are taught to check for diabetes mellitus if a patient presents with rapidly changing refraction and advise them that spectacles should not be prescribed until the refractive state has stabilised.
openaire   +2 more sources

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

Clinical Genetics, EarlyView.
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin, Pilar Caro, Christine Fischer, Heiko Brennenstuhl, Christian P. Schaaf   +4 more
wiley   +1 more source

A Novel UPF1 Variant Associated With a Rare UPF1‐Related Neurodevelopmental Disorder

Clinical Genetics, EarlyView.
Nonsense‐mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, and aberrant NMD has been linked to neurodevelopmental disorders (NDD). A key player of NMD is UPF1, which is a helicase. Including the current patient, only four individuals with NDD and UPF1 variants have been reported in the ...
Zeynep Tümer, Jonas Dalsberg, Gitte Rønde, Jesper Kiehn Sørensen, Elsebet Østergaard   +4 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

The War of the Pacific and Chilean public revenues: Reallocation of the tax burden and institutional change

The Economic History Review, EarlyView.
Abstract A substantial body of literature has considered warfare a fundamental driver of fiscal capacity. We argue that the nature of the tax base available to governments can either foster or constrain the ability and incentives of central elites to impose their legitimacy once the war is over.
Oriol Sabaté, José Peres‐Cajías
wiley   +1 more source

‘Green Skills’ : What Do Companies Do With It? The Case of Building Automation

International Journal of Training and Development, EarlyView.
ABSTRACT In recent times, ‘Green Skills’ has become a buzzword in international, national and local policies. Green Skills are considered to be an important precondition to achieving the United Nations' Sustainable Development Goals. However, until now, there has been a research gap in how companies, characterised by the particularities of their ...
Martina Fuchs, Farina Koller, Hanna Link, Claudia Ziller   +3 more
wiley   +1 more source

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, EarlyView.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source

Subjective refraction and prescribing styles used by UK optometrists

Ophthalmic and Physiological Optics, EarlyView.
Abstract Purpose To investigate the methods of subjective refraction and prescribing used by UK optometrists in routine eye examinations. Methods Following a pilot study of 12 observed refractions conducted by nine optometrists, a questionnaire consisting of simple questions regarding methods used together with conditional response clinical vignettes ...
Jeremy Beesley, Christopher J. Davey, David B. Elliott   +2 more
wiley   +1 more source

Effect of spectacle lenses with highly aspherical lenslets on changes in peripheral eye length and asymmetry

Ophthalmic and Physiological Optics, EarlyView.
Abstract Purpose Spectacle lenses with highly aspherical lenslets (HAL) have been shown to slow myopia progression and axial length (AL) elongation effectively. The effects of HAL on peripheral eye length (PEL) and peripheral refraction (PR) were investigated in children who continued wearing HAL or switched from single‐vision spectacle lenses (SVL) or
Yingying Huang, Xue Li, Yanqing Wang, Björn Drobe, Hao Chen, Jinhua Bao   +5 more
wiley   +1 more source