Results 131 to 140 of about 704,886 (359)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Reliable Stenosis Detection Based on Thrill Waveform Analysis Using Non-Contact Arteriovenous Fistula Imaging

Sensors
Hemodialysis therapy is an extracorporeal circulation treatment that serves as a substitute for renal function. In Japan, patients receive this efficient four-hour treatment, three times per week, allowing them to maintain a social life nearly equivalent
Rumi Iwai, Takunori Shimazaki, Jaakko Hyry, Yoshifumi Kawakubo, Masashi Fukuhara, Hiroki Aono, Shingo Ata, Takeshi Yokoyama, Daisuke Anzai   +8 more
doaj   +1 more source

Hypertrophic pyloric stenosis [PDF]

, 2013
A 6-week old baby was brought to A&E by her parents, after a 3 week history of frequent vomiting, not tolerating feeds, and weight loss. She was well for the first 3 weeks of life, before she stopped tolerating any feeds. Despite several changes with the
Tabone, Trevor, Vella Baldacchino, Andrea   +1 more
core  

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Late onset laryngeal stenosis following radiotherapy for head and neck carcinoma: a case series [PDF]

, 2012
Janitha Jayawardena, Tony O’Connor, R. J. White, Francis Chai   +3 more
openalex   +1 more source

What is Doppler ultrasound? [PDF]

, 2011
The term Doppler should be capitalized because it refers to Christian Johann Doppler, an Austrian physicist (1803–1853). He described a phenomenon whereby the frequency of sound changes when it is reflected off a moving object.
Vassallo, Pierre
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Measurement of gastric emptying in infants with pyloric stenosis using applied potential tomography. [PDF]

, 1993
S. Nour, Y Mangnall, J. A. Dickson, R. G. Pearse, A G Johnson   +4 more
openalex   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Groove pancreatitis with duodenal stenosis [PDF]

, 2010
C. Viñolo-Ubiña, J. Morales-Ruiz, C. Heredia-Carrasco, M. Ruiz-Cabello-Jiménez, María Trinidad Villegas Herrera, D. Garrote-Lara   +5 more
openalex   +1 more source