When transplant isn ’t the only option
Nine-year-old Ariana Dufane is happiest when she’s tumbling, whether she’s launching herself off the ground for a cartwheel or practicing how to perform the perfect split. In that moment, the fourth-grader focuses on nothing but strength and balance, a skill she has refined, not just in gymnastics but in life. Born with intestinal pseudo-obstruction — a disorder of abnormal intestinal motility function that may cause the body to go into intestinal failure — Ariana’s first few months were spent in and out of emergency rooms. Her symptoms began with a distended belly and an inability to hav...
Source: Thrive, Children's Hospital Boston - September 18, 2017 Category: Pediatrics Authors: Emily Williams Tags: Our Patients’ Stories Boston Children's Motility and Functional Gastrointestinal Disorders Center Colorectal and Pelvic Malformation Center Intestinal and Multivisceral Transplant Program intestinal transplant Leonel Rodriguez pseudo-obstruc Source Type: news
Urine Pyrimidine Metabolite Determination by HPLC Tandem Mass Spectrometry
Pyrimidine diseases result from deficiencies in pyrimidine de novo synthesis, degradation, and salvage pathways. Enzymatic deficiencies in pyrimidine catabolism lead to mitochondrial neurogastrointestinal encephalopathy (MNGIE), pyrimidinuria, dihydropyrimidinuria, ureidopropionic aciduria, and other disorders. While MNGIE presents with gastrointestinal dysmotility, cachexia, and leukoencephalopathy, pyrimidinuria and dihydropyrimidinuria may show symptoms of epilepsy, autism, mental retardation, and dysmorphic features. The application of HPLC-MS/MS facilitates rapid screening of pyrimidine metabolites. Here we describe a...
Source: Springer protocols feed by Imaging/Radiology - November 27, 2015 Category: Radiology Source Type: news
Nutrition and Growth in Neonates Undergoing Cardiac Surgery
Growth failure is a widespread health problem in infants with congenital heart disease, specifically infants with single ventricle heart lesions, including hypoplastic left heart syndrome. Optimizing nutrition delivery for neonates undergoing cardiac surgery is challenging given environmental and physiologic barriers. Concomitant with nutrition delivery challenges, wide practice variations exist among clinicians. Malnutrition and poor growth are associated with poor wound healing, increased infection risk, prolonged hospitalizations, and long-term neurodevelopmental disability, including worse school performance. The cause...
Source: NeoReviews recent issues - March 2, 2015 Category: Pediatrics Authors: Fogg, K. L., Zyblewski, S. C. Tags: Pediatric Drug Labeling Update Articles Source Type: news
Boy, 2, allergic to all food apart from potatoes, carrots and bananas
Two-year-old Max Billingham, of Felling in Gateshead was diagnosed with food protein induced enterocolitis syndrome and dysmotility of the bowel as a baby. (Source: the Mail online | Health)
Source: the Mail online | Health - September 12, 2014 Category: Consumer Health News Source Type: news