Results 161 to 170 of about 1,425,667 (309)

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

The relation between cerebral arteriovenous malformations and heart diseases in the pediatric population: a systematic review and meta-analysis. [PDF]

Childs Nerv Syst
Ponchio V, Hussin R, Harati W, Gerhardt ME, Dias FB, Hussin A, Fenner F, de Souza Vasconcelos MF, Bertani R.   +8 more
europepmc   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Nutritional Issues in Children with Congenital Heart Diseases (CHDs). [PDF]

Nutrients
Vazzana GF, Romano A, Romano C.
europepmc   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

CDC strategies for a heart-healthy and stroke-free America [PDF]

Prevention Works: CDC Strategies for a Heart-Healthy and Stroke-Free America\u201d provides a snapshot of heart disease and stroke prevention at the Centers for Disease Control and Prevention. It also provides information on the health and economic costs

core  

Do Not Let Them Fall-ot: Emerging Role of Transcatheter Therapies in Adult Congenital Heart Diseases. [PDF]

JACC Case Rep
Russo G, Taramasso M.
europepmc   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Author Correction: Spot urine sodium as a marker of urine dilution and decongestive abilities in acute heart failure

Scientific Reports
Mateusz Guzik, Gracjan Iwanek, Marat Fudim, Robert Zymliński, Dominik Marciniak, Piotr Ponikowski, Jan Biegus   +6 more
doaj   +1 more source

The risk factors associated with pulmonary hypertension in patients with left heart diseases. [PDF]

Medicine (Baltimore)
Wang K, Fan J, Mei L.
europepmc   +1 more source