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Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
(2017-11-01)
Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, ...
Combination Therapy Is Superior to Sequential Monotherapy for the Initial Treatment of Hypertension: A Double-Blind Randomized Controlled Trial.
(2017-11-18)
BACKGROUND: Guidelines for hypertension vary in their preference for initial combination therapy or initial monotherapy, stratified by patient profile; therefore, we compared the efficacy and tolerability of these approaches. ...
Diagnosis and Prognosis in Sudden Cardiac Arrest Survivors Without Coronary Artery Disease: Utility of a Clinical Approach Using Cardiac Magnetic Resonance Imaging.
(2017-12)
BACKGROUND: Determining the pathogenesis of sudden cardiac arrest or periarrest without significant coronary artery disease is crucial for management and prognosis. Cardiovascular magnetic resonance (CMR) can detect ...
Prolonged immune alteration following resolution of acute inflammation in humans.
(2017)
Acute inflammation is an immediate response to infection and injury characterised by the influx of granulocytes followed by phagocytosing mononuclear phagocytes. Provided the antigen is cleared and the immune system of the ...
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
(2017-01-30)
BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated ...
Novel Germline p.Gly42Val MEN1 Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline.
(2017-09)
We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic ...
Pituitary Carcinoma in a Patient with an SDHB Mutation.
(2017-12)
We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external ...
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
(2017-11-15)
Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated ...
Alcohol use among fatally injured victims in São Paulo, Brazil: bridging the gap between research and health services in developing countries.
(2017-04)
BACKGROUND AND AIMS: Most studies reporting alcohol use among fatally injured victims are subject to bias, particularly those related to sample selection and to absence of injury context data. We developed a research method ...
Intravascular multimodality imaging: feasibility and role in the evaluation of coronary plaque pathology.
(Oxford University Press, 2017-02-17)
Coronary artery disease remains the leading cause of death in the developed world. Over recent years, research has been focused on the development of diagnostic intravascular imaging techniques that enable assessment of ...