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Berdon syndrome

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https://www.readbyqxmd.com/read/26209961/volvulus-of-the-entire-small-bowel-with-normal-bowel-fixation-simulating-malrotation-and-midgut-volvulus
#1
Mansi R Shah, Terry L Levin, Steven L Blumer, Walter E Berdon, Dominique M Jan, David K Yousefzadeh
BACKGROUND: Midgut volvulus is a complication of malrotation of bowel and mesenteric malfixation. In contrast, primary volvulus of the small bowel is a distinctly different and rare entity characterized by torsion of the entire small bowel with normal mesenteric fixation. OBJECTIVE: To present the clinical and imaging findings in four infants with primary small bowel volvulus and normal bowel fixation in order to improve awareness of this entity among clinicians and radiologists and to discuss the potential etiologies of this entity to distinguish it from other causes of small bowel volvulus...
December 2015: Pediatric Radiology
https://www.readbyqxmd.com/read/25998219/new-insights-into-the-genetics-of-fetal-megacystis-actg2-mutations-encoding-%C3%AE-2-smooth-muscle-actin-in-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-berdon-syndrome
#2
Lea Tuzovic, Sha Tang, Russell S Miller, Luis Rohena, Layla Shahmirzadi, Kelly Gonzalez, Xiang Li, Charles A LeDuc, Jiancheng Guo, Ashley Wilson, Ashley Mills, Kenneth Glassberg, Heidi Rotterdam, Antonia R Sepulveda, Wenqi Zeng, Wendy K Chung, Kwame Anyane-Yeboa
OBJECTIVE: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. METHODS: Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. RESULTS: We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>A (p.Arg257His) encoding x03B3;-2 smooth muscle actin (ACTG2) in 2 siblings with MMIHS, suggesting gonadal mosaicism of one of the parents...
2015: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/25416932/shwachman-bodian-diamond-syndrome-metaphyseal-chondrodysplasia-in-children-with-pancreatic-insufficiency-and-neutropenia
#3
REVIEW
Terry L Levin, Outi Mäkitie, Walter E Berdon, Ralph S Lachman
Shwachman-Bodian-Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a hematologist, along with pediatrician and morbid anatomist Martin Bodian. Initially the syndrome's clinical presentation included exocrine pancreatic insufficiency (lipomatous replacement of the pancreas) and neutropenia. In 1967 skeletal changes of metaphyseal chondrodysplasia were also described, completing the triad of findings; these abnormalities are present in all affected children and should be viewed as an integral feature of the syndrome, also called Shwachman-Diamond syndrome...
July 2015: Pediatric Radiology
https://www.readbyqxmd.com/read/25269937/the-extraordinary-career-of-professor-dr-simon-van-creveld
#4
Paul J W Stoelinga, Walter E Berdon, M Michael Cohen
Simon van Creveld received both the MD and PhD degrees and had a multifaceted medical and scientific education at many hospitals and research institutes in the Netherlands, Germany, and the UK. He and his wife were the first to develop insulin for the Netherlands. His major interests were in hemophilia and hemorrhagic disorders, which accounted for 87 of his publications. In 1934, van Creveld demonstrated that a dispersed protein fraction obtained from serum could reduce the clotting time of hemophilic blood...
November 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24676022/heterozygous-de-novo-and-inherited-mutations-in-the-smooth-muscle-actin-actg2-gene-underlie-megacystis-microcolon-intestinal-hypoperistalsis-syndrome
#5
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Richard A Gibbs, James R Lupski, Arthur Beaudet
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction...
March 2014: PLoS Genetics
https://www.readbyqxmd.com/read/23955298/familial-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-a-systematic-review
#6
REVIEW
Danielle Mc Laughlin, Prem Puri
BACKGROUND: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe disorder of functional obstruction affecting bladder and bowel, usually diagnosed in the neonatal period. Over 230 cases have been reported since Berdon and colleagues first described this clinical entity in 1976. The exact pathogenesis of MMIHS is unknown. Familial occurrence of MMIHS has been reported and could offer insight into the aetiology of this disease. The purpose of this study was to systematically review the published literature for the evidence of familial MMIHS and to characterise these presentations...
September 2013: Pediatric Surgery International
https://www.readbyqxmd.com/read/23754541/ellis-van-creveld-syndrome-its-history
#7
Oliver J Muensterer, Walter Berdon, Chris McManus, Alan Oestreich, Ralph S Lachman, M Michael Cohen, Stephen Done
The story of Ellis-van Creveld syndrome is one of serendipity. By chance, Simon van Creveld and Richard Ellis purportedly met on a train and combined their independently encountered patients with short stature, dental anomalies and polydactyly into one landmark publication in 1940. They included a patient used in work published previously by Rustin McIntosh without naming McIntosh as a coauthor. This patient was followed radiologically by Caffey for nearly two decades. In 1964, Victor McKusick felt compelled to investigate a brief report in an obscure pharmaceutical journal on an unusual geographic cluster of short-statured Amish patients in Pennsylvania...
August 2013: Pediatric Radiology
https://www.readbyqxmd.com/read/22869833/copper-deficiency-presenting-as-metabolic-bone-disease-in-extremely-low-birth-weight-short-gut-infants
#8
Michelle L Marquardt, Stephen L Done, Maura Sandrock, Walter E Berdon, Kenneth W Feldman
Copper deficiency can cause bone lesions in infants, which might be confused with child abuse. Two extremely low birth weight preterm infants had complicated medical courses requiring prolonged parenteral nutrition for short-gut syndrome, which led to the development of cholestasis. Both had spent their entire lives in the hospital. They had been on prolonged ventilator support for chronic lung disease. They developed signs of copper deficiency between 5 and 6 months of age, initially raising child abuse concerns...
September 2012: Pediatrics
https://www.readbyqxmd.com/read/21520553/-chronic-idiopathic-intestinal-pseudoobstruction-and-berdon-syndrome-still-a-diagnostic-and-therapeutic-challenge-for-the-pediatric-surgeon
#9
A M Andrés, M Miguel, C De la Torre, S Barrena, M Ramírez, F Hernández, L Martínez, N Leal, E Ramos, G Prieto, M López Santamaría, J A Tovar
AIM/BACKGROUND: Chronic Intestinal Pseudo Obstruction (CIPO) and Berdon Syndrome (BS) are motility disorders with still unclear pathophysiology, and challenging diagnosis and management. Patient and methods. 26 patients (8M/18F) treated of CIPO (21) or BS (5) at our institution between 1982-2009 were retrospectively reviewed and clinical, diagnostic, therapeutic and follow-up data were analyzed. RESULTS: 77% had a neonatal onset by the 3rd month of life (5 had a prenatal diagnosis of megacystis)...
October 2010: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/21264464/value-of-postmortem-thoracic-ct-over-radiography-in-imaging-of-pediatric-rib-fractures
#10
COMPARATIVE STUDY
Terence S Hong, Jeanette A Reyes, Rahim Moineddin, David A Chiasson, Walter E Berdon, Paul S Babyn
BACKGROUND: Studies have reported that thoracic CT may provide greater sensitivity compared with radiography in detection of pediatric rib fractures and fracture healing. The additional sensitivity afforded by thoracic CT may have medicolegal implications where abuse is suspected. OBJECTIVE: To determine the additional value of postmortem thoracic CT compared with radiography in detecting pediatric rib fractures, and fracture healing, using autopsy findings as a gold standard...
June 2011: Pediatric Radiology
https://www.readbyqxmd.com/read/21221565/long-segment-narrowing-of-the-abdominal-aorta-and-its-branches-in-a-survivor-of-infantile-neuroblastoma-treated-without-radiation-therapy
#11
Terry L Levin, Derek Roebuck, Walter E Berdon
Narrowing of the abdominal aorta and renal arteries (mid-aortic syndrome) after treatment for neuroblastoma has been attributed to radiation therapy. We present a child with neuroblastoma, successfully treated without radiation therapy, who developed mid-aortic syndrome and hypertension. MR imaging demonstrated encasement of the aorta at presentation. Following successful treatment, long-segment aortic narrowing and narrowing of the proximal renal arteries were present. Hypertension has improved during a 5-year period although renal artery stenosis persists...
July 2011: Pediatric Radiology
https://www.readbyqxmd.com/read/21174082/clinical-and-radiological-distinction-between-spondylothoracic-dysostosis-lavy-moseley-syndrome-and-spondylocostal-dysostosis-jarcho-levin-syndrome
#12
Walter E Berdon, Brooke S Lampl, Alberto S Cornier, Norman Ramirez, Peter D Turnpenny, Michael G Vitale, Leonard P Seimon, Robert A Cowles
In 1938, Saul Jarcho and Paul Levin from Johns Hopkins Hospital reported cases of thoracic insufficiency due to vertebral and rib anomalies. Nearly 30 years later, in 1966, Norman Lavy and associates from Indiana University reported a similar syndrome in a family from Puerto Rico. Lavy's description was followed by a report by John E. Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used. For more than half a century, there has been confusion regarding the distinction between these two phenotypically similar syndromes that cause thoracic insufficiency...
March 2011: Pediatric Radiology
https://www.readbyqxmd.com/read/21120465/williams-beuren-syndrome-historical-aspects
#13
Walter E Berdon, Patricia M Clarkson, Rita L Teele
Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.
February 2011: Pediatric Radiology
https://www.readbyqxmd.com/read/21107555/john-c-p-williams-of-williams-beuren-syndrome
#14
Howard M Lenhoff, Rita L Teele, Patricia M Clarkson, Walter E Berdon
John C.P. Williams of New Zealand, whose name is associated with Williams-Beuren syndrome, spent his known professional career primarily in cardiovascular research. His disappearance in the mid-1970s and his later life remain a mystery.
February 2011: Pediatric Radiology
https://www.readbyqxmd.com/read/20135111/rudhe-syndrome-reversible-right-middle-lobe-emphysema-in-infants-with-left-to-right-shunts-an-historical-review
#15
Lee K Collins, Terry L Levin, Walter E Berdon, Robert A Cowles, Beverley Newman
In 1971, the Swedish radiologist Ulf Rudhe wrote a provocative paper on right middle lobe emphysema in infants with left-to-right shunts in which he suggested cardiac surgery rather than lung resection. At the time, this was counter to accepted medical practice. Earlier diagnosis and better medical management of ventricular septal defect in infants has proved Rudhe correct. However, two current cases of large left-to-right shunts in infants with emphysema of the right middle lobe prompt this historical review of what seemed a closed-episode in pediatric cardiac surgery...
May 2010: Pediatric Radiology
https://www.readbyqxmd.com/read/19794822/megacystis-microcolon-intestinal-hypoperistalsis-syndrome-a-case-report
#16
Mehmet Melek, Yesim Edirne, Burhan Beger, Mecnun Cetin
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al...
2009: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/19430769/the-association-between-neuroblastoma-and-opsoclonus-myoclonus-syndrome-a-historical-review
#17
Alexis B Rothenberg, Walter E Berdon, Giulio J D'Angio, Darrell J Yamashiro, Robert A Cowles
An association between neuroblastoma and opsoclonus-myoclonus syndrome (OMS) was described as early as 1927 within the first report on the transformation of malignant neuroblastoma to a benign ganglioneuroma. It was not recognized at that time nor was it appreciated in the subsequent follow-up report on the same patient in 1959. Myoclonic encephalopathy of infancy, an alternative name for OMS, was described by a pediatric neurologist in 1962; however, its connection to neuroblastoma was not known. It was only in 1968 that the association between these two conditions was first reported...
July 2009: Pediatric Radiology
https://www.readbyqxmd.com/read/19241073/malrotation-and-midgut-volvulus-a-historical-review-and-current-controversies-in-diagnosis-and-management
#18
REVIEW
Brooke Lampl, Terry L Levin, Walter E Berdon, Robert A Cowles
The complex and sometimes controversial subject of malrotation and midgut volvulus is reviewed commencing with the 19th-century Bohemian anatomist, Václav Treitz, who described the suspensory muscle anchoring of the duodenal-jejunal junction in the left upper quadrant, and continuing with William Ladd, the 20th-century American "father of pediatric surgery" who pioneered the surgical treatment of midgut volvulus. In this review, we present the interesting history of malrotation and discuss the current radiologic and surgical controversies surrounding its diagnosis and treatment...
April 2009: Pediatric Radiology
https://www.readbyqxmd.com/read/18334881/diagnosis-of-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-with-aplastic-desmosis-in-adulthood-a-case-report
#19
Jonel Trebicka, Erwin Biecker, Frank Gruenhage, Manfred Stolte, William A Meier-Ruge, Tilman Sauerbruch, Frank Lammert
Megacystis-microcolon intestinal hypoperistalsis syndrome (MMHIS or Berdon syndrome) is an autosomal-recessive disorder characterized by chronic intestinal obstruction. Although the disease is often diagnosed in female infants we describe a man with late diagnosis in adulthood. Our patient presented soon after birth with intestinal obstruction and developed short bowel syndrome after multiple intestinal resections. Of note, the connective tissue net within the muscle layers of the intestinal wall was absent ('aplastic desmosis')...
April 2008: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/17882412/treatment-of-giant-pulmonary-interstitial-emphysema-by-ipsilateral-bronchial-occlusion-with-a-swan-ganz-catheter
#20
Shantanu Rastogi, Archana Gupta, Jen-Tien Wung, Walter E Berdon
BACKGROUND: Unilateral giant pulmonary interstitial emphysema (PIE) can be seen as a complication of chronic ventilation in extremely low-birth-weight babies. Many can be managed by conventional pulmonary care which includes positioning, suctioning, chest physiotherapy, gentle conventional ventilation and high-frequency ventilation. Some may need invasive procedures such as lung puncture, pleurotomies and excisional surgery. This is the group in which single-lung ventilation may be beneficial and circumvent the need for an invasive procedure...
November 2007: Pediatric Radiology
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