Results 51 to 60 of about 5,272 (228)

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Reference values for selected ophthalmic tests of the blue-and-yellow macaw (Ara ararauna)

Pesquisa Veterinária Brasileira
: The aim of this study was to establish reference values for selected ophthalmic diagnostic tests in healthy blue-and-yellow macaws. We investigated a total of 35 adult macaws (70 eyes) of undetermined sex and with an average weight of 1 kg, who were ...
Mário Sérgio A. Falcão, Rafael V. Monteiro, Clarissa M. Carvalho, Hudson H. de Andrade, Paula D. Galera   +4 more
doaj   +1 more source

Equine botulism

Equine Veterinary Journal, EarlyView.
Abstract Botulism is a severe and often fatal disease in equine patients worldwide. Clostridium botulinum is a ubiquitous soil organism which produces a potent neurotoxin resulting in neuromuscular blockade and flaccid paralysis in affected animals. Definitive diagnosis is often impractical or impossible, leading to diagnosis and treatment based on ...
Kali Slavik, Robert Whitlock, Amy Johnson   +2 more
wiley   +1 more source

Efficacy and welfare effects of different forms of physical restraint for upper airway endoscopy of horses

Equine Veterinary Journal, EarlyView.
Abstract Background Physical restraint of horses for veterinary procedures is necessary to allow completion of tasks effectively and without injury to patient or personnel. Objectives To compare physiological effects and behavioural responses to four commonly used restraint techniques for upper respiratory tract (URT) endoscopy in unsedated horses ...
Claire O'Brien, Olivier Simon, Samantha H. Franklin, Gustavo Ferlini Agne, Sarah Weaver, Sharanne L. Raidal   +5 more
wiley   +1 more source

Cytoarchitecture and myeloarchitecture of the sheep auditory cortex

Journal of Anatomy, EarlyView.
This article describes the cyto‐ and myeloarchitecture of the sheep auditory cortex. It outlines a six‐layered cortical organization, with variations in cellular types and densities. The potential location of the primary auditory cortex is indicated by parvalbumin immunostaining.
Camille Pluchot, Mélody Morisse, Maryse Meurisse, Jean‐Marie Graïc, Elodie Chaillou, Scott A. Love   +5 more
wiley   +1 more source

Complex Approach to Assess Results of Surgical Correction of Eyelids Position

Oftalʹmologiâ
It is not easy to assess surgery results, especially, when there are no quantitative criteria, at first sight. Results of the surgical interventions for paralytic lagophthalmos are especially difficult to assess, as the anatomic result of the surgery ...
M. B. Gushchina, A. V. Tereshchenko, D. S. Afanasyeva   +2 more
doaj   +1 more source

OPTIMIZATION OF A RECONSTRUCTIVE PLASTIC SURGERY OF EXTENSIVE CICATRICAL BLEPHARON DEFECTS WITH MULTIPARTITE TISSUE COMPLEX

Офтальмохирургия, 2017
Purpose. Assessment of efficiency in the use of a multi-component tissue complex for an optimization of reconstructive plastic surgery for extensive cicatrical deformations of blepharons.Material and methods.
P. A. Banshchikov, V. V. Egorov, G. P. Smoliakova   +2 more
doaj   +1 more source

A combination of modified Kuhnt–Szymanowski and Celsus–Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes)

Veterinary Ophthalmology, Volume 28, Issue 2, Page 114-123, March 2025.
Abstract Purpose To describe a surgical approach to correct entropion and overlong lower eyelids in dogs by combining the Celsus–Hotz with the modified Kuhnt–Szymanowski technique. Methods Medical records of patients undergoing the described surgical procedure were reviewed.
Hanna Walter, Teresa Bilotta, Catarina Goncalves, Claudia Busse   +3 more
wiley   +1 more source

The Influence of Juvenile Graves’ Ophthalmopathy on Graves’ Disease Course

Journal of Ophthalmology, 2017
Purpose. To investigate juvenile Graves’ ophthalmopathy (GO) signs and compare Graves’ disease (GD) course in patients with or without GO. Patients and Methods.
Jurate Jankauskiene, Dalia Jarusaitiene
doaj   +1 more source