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Cardiopulmonary exercise response at high altitude in patients with congenital heart disease: a systematic review and meta-analysis.
Front Cardiovasc Med
December 2024
Department of Medicine DIMED, University of Padua, Padua, Italy.
Background: An increasing number of patients with congenital heart disease (CHD) engage in physical activities and may exercise at high altitudes (HA). The physiological adaptations required at HA and their implications on individuals with CHD, especially during exercise, remain underexplored. This systematic review aims to investigate cardiopulmonary exercise responses to short-term HA exposure in individuals with CHD.
View Article and Find Full Text PDFCleft palate, congenital heart disease, and developmental delay involving heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report.
Front Pediatr
December 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This case is the first reported patient with a gene mutation who primarily exhibits pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring methylphenidate treatment. It is characterized by unique clinical features that set it apart from previously reported cases with mutations in the gene. Here, we report a female child with a diagnosis of ADHD and comorbidities.
View Article and Find Full Text PDFDIAGNOSIS AND TREATMENT OF MICROSCOPIC COLITIS: POSITION PAPER ON BEHALF OF THE BRAZILIAN FEDERATION OF GASTROENTEROLOGY.
Arq Gastroenterol
December 2024
Universidade de Campinas, Departamento de Gastroenterologia, Campinas, SP, Brasil.
Background: Microscopic colitis (MC) is a chronic inflammatory condition of the colon, primarily characterized by watery diarrhea, with normal or near-normal endoscopic findings. It encompasses two main subtypes: lymphocytic colitis and collagenous colitis.
Objective: This position paper from the Brazilian Federation of Gastroenterology aims to review current evidence on the diagnosis and management of MC in Brazil, emphasizing the need for standardization across the country's healthcare systems.
Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies.
Egypt Heart J
January 2025
Department of Physiology, Faculty of Basic Medical Sciences, Obafemi Awolowo College of Health Sciences, Olabisi Onabanjo University, Sagamu Campus, Sagamu, Ogun State, Nigeria.
Background: Hypertrophic cardiomyopathy (HCM) is a frequently encountered cardiac condition worldwide, often inherited, and characterized by intricate phenotypic and genetic manifestations. The natural progression of HCM is diverse, largely due to mutations in the contractile and relaxation proteins of the heart. These mutations disrupt the normal structure and functioning of the heart muscle, particularly affecting genes that encode proteins involved in the contraction and relaxation of cardiac muscle.
View Article and Find Full Text PDFImaging and management of calcium pyrophosphate deposition disease.
Skeletal Radiol
January 2025
Department of Radiology, Massachusetts General Hospital, Harvard Medical School, 32 Fruit Street, Yawkey 6044, Boston, MA, 02114, USA.
The radiological manifestations of calcium pyrophosphate deposition (CPPD) revolve around two main axes: the asymptomatic form and CPPD disease. The latter is a consequence of an immune response to calcium phosphate crystals. Chondrocalcinosis is broadly considered the radiographic manifestation of CPPD regardless of whether it is asymptomatic or associated with inflammatory arthritis.
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