Cargando…

A Case of William’s Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting

Background: Williams–Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mapelli, Massimo, Zagni, Paola, Calbi, Valeria, Twalib, Aliku, Ferrara, Roberto, Agostoni, Piergiuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700345/ https://www.ncbi.nlm.nih.gov/pubmed/34943388 http://dx.doi.org/10.3390/children8121192

Ejemplares similares

Echocardiographic Screening for Rheumatic Heart Disease in a Ugandan Orphanage: Feasibility and Outcomes
por: Mapelli, Massimo, et al.
Publicado: (2022)

Unexpected Huge Prevalence of Intracardiac Extension of Wilms Tumor—A Single Center Experience from a Ugandan Hospital
por: Mapelli, Massimo, et al.
Publicado: (2022)

Health Related Quality of Life of Ugandan Children Following Valve Replacement Surgery for Rheumatic Heart Disease
por: Ahmed, Mohammed A. M., et al.
Publicado: (2023)

The semantic of a pandemic: Are cardiovascular patients dying “with” or “from” COVID-19? Reflections from a case report
por: Mapelli, Massimo, et al.
Publicado: (2021)

Editorial: An International Journey into the Research Progress of Pediatric Cardiology
por: Mapelli, Massimo, et al.
Publicado: (2023)

Hypereosinophilic syndrome onset with Loeffler's endocarditis after COVID-19 infection( )
por: Mapelli, Massimo, et al.
Publicado: (2022)

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report
por: Piloya, Thereza, et al.
Publicado: (2020)

Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review
por: Namuyonga, Judith, et al.
Publicado: (2020)

Editorial: Exercise and heart failure
por: Salvioni, Elisabetta, et al.
Publicado: (2022)

High prevalence of truncus arteriosus in pediatric congenital heart disease in Uganda
por: Namuyonga, Judith, et al.
Publicado: (2019)

The MECKI score initiative: a successful and ongoing story
por: Piepoli, Massimo F, et al.
Publicado: (2020)

Validation of a new wearable device for type 3 sleep test without flowmeter
por: Contini, Mauro, et al.
Publicado: (2021)

Dramatic disease regression in a case of HFrEF with end‐stage renal failure treated with sacubitril/valsartan and SGLT2i
por: Mapelli, Massimo, et al.
Publicado: (2023)

Modelling the impact of stunting on child survival in a rural Ugandan setting
por: Bukusuba, John, et al.
Publicado: (2018)

“Under the Bridge”: Looking for Ischemia in a Patient with Intramyocardial Coronary Artery Course—The Role of the Cardiopulmonary Exercise Test
por: Mapelli, Massimo, et al.
Publicado: (2023)

Brisk walking can be a maximal effort in heart failure patients: a comparison of cardiopulmonary exercise and 6 min walking test cardiorespiratory data
por: Mapelli, Massimo, et al.
Publicado: (2021)

Novel Orthobunyavirus Identified in the Cerebrospinal Fluid of a Ugandan Child With Severe Encephalopathy
por: Edridge, Arthur W D, et al.
Publicado: (2019)

Case Report: Acute Heart Failure Induced by the Combination of Takayasu's, Takotsubo and Coronary Vasospasm in an Elementary School Teacher–A Reaction to Return-to-Work Stress After COVID-19?
por: Pires, Inês, et al.
Publicado: (2022)

A Breathtaking Lift: Sex and Body Mass Index Differences in Cardiopulmonary Response in a Large Cohort of Unselected Subjects with Acute Exposure to High Altitude
por: Vignati, Carlo, et al.
Publicado: (2021)

Cardiopulmonary exercise testing and heart failure: a tale born from oxygen uptake
por: Mapelli, Massimo, et al.
Publicado: (2023)

Portrayal of the Human Resource Crisis and Accountability in Healthcare: A Qualitative Analysis of Ugandan Newspapers
por: Wojczewski, Silvia, et al.
Publicado: (2015)

Modelling allocation of resources in prevention and control of obstetric fistula in Ugandan women
por: Nannyonga, Betty, et al.
Publicado: (2020)

Amino-terminal pro-brain natriuretic peptide in children with latent rheumatic heart disease
por: Zachariah, Justin P, et al.
Publicado: (2016)

Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome
por: Sanjad, Sami A., et al.
Publicado: (2018)

Orbital compression syndrome in a Ugandan child with sickle cell disease: A case report
por: Olum, Ronald, et al.
Publicado: (2021)

Child stunting starts in utero: Growth trajectories and determinants in Ugandan infants
por: Namirembe, Grace, et al.
Publicado: (2022)

Immature Circulating SP-B, Bound to HDL, Represents an Early Sign of Smoke-Induced Pathophysiological Alterations
por: Banfi, Cristina, et al.
Publicado: (2021)

Cardiac Reverse Remodelling by 2D and 3D Echocardiography in Heart Failure Patients Treated with Sacubitril/Valsartan
por: Mantegazza, Valentina, et al.
Publicado: (2021)

Looking into the Kinetics of NT-proBNP and sST2 Changes in Patients with Heart Failure Treated with Sacubitril/Valsartan: A Hint to Different Therapeutic Pathways
por: Mapelli, Massimo, et al.
Publicado: (2023)

Improving the accuracy of heart failure diagnosis in low-resource settings through task sharing and decentralization
por: DeWyer, Alyssa, et al.
Publicado: (2019)

Ceftriaxone-induced cholestatic hepatitis in a child: A case report and a review of the literature
por: Castellazzi, Massimo Luca, et al.
Publicado: (2022)

Witnessing intimate partner violence and child maltreatment in Ugandan children: a cross-sectional survey
por: Devries, Karen M, et al.
Publicado: (2017)

Sudden onset methaemoglobinaemia in a previously well Ugandan child: a case report and literature review
por: Nabukeera-Barungi, Nicolette, et al.
Publicado: (2012)

Use of task-shifting to scale-up child mental health services in low-resource Ugandan schools: role of contextual factors on program implementation
por: Huang, Keng-Yen, et al.
Publicado: (2015)

Pediatric cardiovascular care in Uganda: Current status, challenges, and opportunities for the future
por: Aliku, Twalib Olega, et al.
Publicado: (2017)

Exertional dyspnoea in cardiorespiratory disorders: the clinical use of cardiopulmonary exercise testing
por: Laveneziana, Pierantonio, et al.
Publicado: (2016)

The Current Role of Cardiopulmonary Exercise Test in the Diagnosis and Management of Pulmonary Hypertension
por: Pezzuto, Beatrice, et al.
Publicado: (2023)

Starting and Operating a Public Cardiac Catheterization Laboratory in a Low Resource Setting: The Eight-Year Story of the Uganda Heart Institute Catheter Laboratory
por: Rwebembera, Joselyn, et al.
Publicado: (2021)

Establishment of a cardiac telehealth program to support cardiovascular diagnosis and care in a remote, resource-poor setting in Uganda
por: DeWyer, Alyssa, et al.
Publicado: (2021)

When a leader job resource can be ambivalent or even destructive: Independence at work as a double-edged sword
por: Gatti, Paola, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_8p8a0o78unk8crjo97fcmnecgh