Results 101 to 110 of about 43,719 (293)

Permanent ventricular assist device support versus cardiac transplantation [PDF]

, 1999
D. Glenn Pennington, Timothy Oaks, Douglas P. Lohmann   +2 more
openalex   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Successful catheter ablation of hemodynamically significant ventricular tachycardia in a patient with biventricular assist device support

HeartRhythm Case Reports, 2015
Venkatachalam Mulukutla, MD, Wilson Lam, MD, Leo Simpson, MD, FACC, Nilesh Mathuria, MD   +3 more
doaj   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source

PARATHORACIC LEFT VENTRICULAR ASSIST DEVICE (PVAD)

, 1977
T Washizu, Robert L. Whalen, Norihiko Morinaga, H. Harasaki, Nayuta Tsushima, K. Ouchi, Kunihiko Hayashi, J Snow, R. Sukalac, G Jacobs, R Kiraly, Yoshitaro Nose   +11 more
openalex   +1 more source

Activation of coagulation and fibrinolytic pathways in patients with left ventricular assist devices [PDF]

, 1996
Talia B. Spanier, Mehmet C. Öz, Howard R. Levin, Alan Weinberg, Kathy Stamatis, David M. Stern, Eric A. Rose, Ann Marie Schmidt   +7 more
openalex   +1 more source

Changes in hemodynamics of pulmonary artery using Flowire in a canine model of acute pulmonary thromboembolism

Animal Models and Experimental Medicine, EarlyView.
This study investigated changes in pulmonary artery hemodynamics using a Flowire catheter and evaluated the accuracy of Doppler echocardiography in dogs with acute pulmonary thromboembolism (PTE). Ten healthy beagles were anesthetized, and acute pulmonary hypertension (PH) was induced by injecting 300‐μm dextran microspheres.
Tomohiko Yoshida, Katsuhiro Matsuura, Akiko Uemura, Ryou Tanaka   +3 more
wiley   +1 more source