Peroral endoscopic myotomy for esophageal motility disorders

ConclusionsPOEM can be a new option for the treatment of esophageal movement disorders, but large sample, multi-center, long-term study reports are needed, and it promotes the development of NOTES technology.
Source: Esophagus - Category: Gastroenterology Source Type: research

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Discussion Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.” There are four distinct subtypes: Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected. Semilobar – the cerebral hemispheres are fused anteriorly bu...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
AbstractIdiopathic pulmonary fibrosis is a peripheral subpleural interstitial lung disorder limited to the lung not involving the airways. It has a poor prognosis (survival less than 5  years) and commonly an interstitial pneumonia radiological pattern. Patients complain of a chronic dry cough in 80% of cases. A cough is often the first symptom of this rare disease, preceding dyspnea by years, and is associated with a poor prognosis, high dyspnea scores and low FVC percentages. T he pathogenetic mechanisms leading to coughing in IPF are unclear. This review focuses on recent evidence of cough pathophysiology in this d...
Source: Internal and Emergency Medicine - Category: Emergency Medicine Source Type: research
Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, su...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
A 5-year-old boy presented to the Undiagnosed Diseases Network (UDN) with a history of global developmental delay, postnatal microcephaly, hypotonia, jerking movements concerning for seizures, minimal speech, severe gastroesophageal reflux disease, dysmorphic features, and partial agenesis of the corpus callosum on brain magnetic resonance imaging.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Grand rounds Source Type: research
We report the case of a 63-year-old female undergoing evaluation of symptomatic anemia, gastroesophageal reflux disease, and abdominal pain. After a thorough diagnostic work-up, a large, ulcerated mass was identified in the patient’s stomach, and surgical pathology in combination with molecular analysis yielded a diagnosis of primary extraskeletal Ewing sarcoma. In our report, we discuss the epidemiologic, clinicopathologic, and radiographic features of this rare disease and provide a review of the existing literature.
Source: Clinical Imaging - Category: Radiology Authors: Source Type: research
  Bently Barnes (center) with Dr. Victor Fox and Dr. Amit Grover, co-directors of the Pancreatic Disorders Program Four-year-old Bently Barnes needed to get ready. He opened the closet door, reached for his camouflage backpack, then scanned his bedroom for the essentials. He grabbed his favorite stuffed animal named, “Marshall,” a truck, tractor and his most prized possession – his blanket. He placed them in his backpack with care, zipped the travel bag and placed it next to his bed. Bently told his mom he was packed and ready to travel from their home in North Carolina to Boston ...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Amit Grover Chronic pancreatitis ERCP MD Pancreatic Disorders Program Second opinion Victor Fox Source Type: news
Eosinophilic Esophagitis: The "Not-So-Rare" Disease. Pediatr Ann. 2016 Feb 1;45(2):e63-6 Authors: Goh VL Abstract Eosinophilic esophagitis (EoE) is a relatively newly described disorder with increasing incidence. Patients with EoE may present at all ages from childhood through adulthood. Presenting symptoms may vary from feeding refusal, gagging, and/or vomiting in the younger population, dysphagia, chest pain, and abdominal pain in adolescents, as well as emergent food impactions. However, there are strict diagnostic criteria that must be met to make the diagnosis. Specifically, the diagnos...
Source: Pediatric Annals - Category: Pediatrics Authors: Tags: Pediatr Ann Source Type: research
“Everyone tells you that the NICU is a roller coaster ride. What they don’t tell you is that it’s a customized roller coaster ride just for you. You never know what’s coming at you next,” says Carrie Shea, whose daughter Ella spent her first three months of life in Boston Children’s Hospital NICU. Today, Ella is a “remarkably normal little girl,” says Carrie. It’s quite a feat for the three-year-old who was born with GACI (generalized arterial calcification of infancy), an extremely rare condition with an 85 percent mortality rate, and diagnosed with PKU (phenylketonuri...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our patients’ stories Source Type: news
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