Results 151 to 160 of about 46,771 (265)

Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Neonatal diabetes mellitus (NDM) is a monogenic condition diagnosed <6 months of age with >40 genetic causes. International guidelines recommend referral for genetic testing immediately after diagnosis since the genetic result guides clinical management. We used next‐generation sequencing to identify a homozygous pathogenic variant, p.(Arg244*)
Russell Donis, Maryam Al Badi, Nadia Alhashmi, Andrew T Hattersley, Sarah E Flanagan, Elisa De Franco   +5 more
wiley   +1 more source

A unique presentation of systolic anterior motion of the mitral valve in a patient with obstructive hypertrophic cardiomyopathy and recurrent syncope: a case report. [PDF]

Eur Heart J Case Rep
Li W, Sun JP, Han C, Ta S, Liu L.
europepmc   +1 more source

Menrath ulcers in cats: four cases (2014‐2023)

Journal of Small Animal Practice, EarlyView.
Objectives To report the clinical presentation, treatment and outcomes of four cats diagnosed with Menrath ulcers causing significant oral haemorrhage. Materials and Methods For all cats, data on signalment, history, physical examination, treatment and outcomes were collected by reviewing medical records.
K. Whybrow, T. Hernon, M. Pilot
wiley   +1 more source

MitraClip combined with PTSBME for the treatment of obstructive hypertrophic cardiomyopathy with severe mitral regurgitation: a case report. [PDF]

J Cardiothorac Surg
Wang X, Liang Z, Liu M, Huang S, Pan G.
europepmc   +1 more source

Primary hyperparathyroidism in a domestic shorthair cat following I131 radioiodine therapy

Journal of Small Animal Practice, EarlyView.
A 12‐year‐old male neutered domestic shorthaired cat presented for further assessment of a cervical mass, having undergone radioiodine therapy for treatment of hyperthyroidism 2 years prior to presentation. Initial cytological diagnosis of the mass was supportive of a carcinoma and laboratory results were consistent with primary hyperparathyroidism ...
E. Ruane, P. Odatzoglou, H. Wong, A. Hayes   +3 more
wiley   +1 more source

Endocarditis and Hypertrophic Cardiomyopathy. [PDF]

JACC Case Rep
Bertola S, Margonato D, Roccabruna A, Belli M, Malagoli A, Setti M, Ilardi F, Lisi M, Mandoli GE, Pastore MC, Sperlongano S, Ciccone MM, Muscoli S, Agricola E, Benfari G, Cameli M, D'Andrea A, Working Group of Echocardiography of the Italian Society of Cardiology.   +17 more
europepmc   +1 more source

Precision medicine in neuropsychiatric disorders: Still a long way to go

Developmental Medicine &Child Neurology, EarlyView.
Jos M. T. Draaisma, Renée L. Roelofs, Ellen Wingbermühle   +2 more
wiley   +1 more source

Mavacamten maintenance dose determination: insights into individualised therapy for hypertrophic cardiomyopathy. [PDF]

Open Heart
Scholtz S, Coppée C, Mohemed K, Potratz M, Sequeira V, Rudolph V, Scholtz W, Reil JC.   +7 more
europepmc   +1 more source

Efficacy and safety of myectomy and radiofrequency septal ablation for treating hypertrophic obstructive cardiomyopathy. [PDF]

Open Heart
Bruscky LVR, Valdigem BP, Correia EB, Chaccur P, Vilela AA, Paladino Filho AT, Pinto I, Ramos RF, Assef JE.   +8 more
europepmc   +1 more source

Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8‐Month‐Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Miliarias are a group of eccrine disorders characterized by sweat retention due to the occlusion of eccrine ducts. Miliaria profunda is the rarest form of miliaria and occurs when eccrine ducts are obstructed at the dermal‐epidermal junction. A granulomatous variant of centrifugal miliaria profunda classic findings of granulomatous infiltrate ...
Hannah C. Tolson, Fatmah Alzahrani, Raj Singh, Robert Lorsbach, Theresa A. Grebe, Supraja Prakash, Jennifer Picarsic, Elizabeth Dupuy, Harper Price   +8 more
wiley   +1 more source