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https://www.readbyqxmd.com/read/28334780/eif4a3-deficient-human-ipscs-and-mouse-models-demonstrate-neural-crest-defects-that-underlie-richieri-costa-pereira-syndrome
#1
Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz C de Caires Junior, Ernesto S G Guimarães, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver
Biallelic loss-of-function mutations in the RNA binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective Neural Crest Cell (NCC) development explains RCPS craniofacial abnormalities...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331460/meckel-diverticulum-harboring-a-rare-gastrointestinal-stromal-tumor
#2
Andrew C Berry, Rahman Nakshabendi, Ozdemir Kanar, Sean Hamer
BACKGROUND: Tumors within a Meckel diverticulum are a rare complication observed in only 0.5%-3.2% of symptomatic cases. The majority of tumors are benign, but some malignant tumors, such as gastrointestinal stromal tumors (GISTs) can occur. CASE REPORT: We report the case of a 48-year-old female who presented with severe abdominal pain and nausea and was found to have a GIST arising from a Meckel diverticulum. CONCLUSION: The differential diagnosis of a pelvic mass in a middle-aged female presenting with gastrointestinal symptoms must remain broad...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28328694/acute-painless-lower-gastrointestinal-bleed-that-mimics-meckel-diverticulum
#3
Anand Gourishankar, KuoJen Tsao
OBJECTIVE: We describe a case of gastrointestinal duplication cyst with heterotopic gastric mucosa presenting with hematochezia. CASE: The patient was a previously healthy 2-month-old girl presenting with passing fresh blood in the diaper without distress or abdominal discomfort. She was evaluated for colic prior to this episode and discharged home. Meckel scan was positive, and surgeons performed an exploratory laparotomy to identify a jejunal duplication cyst...
March 21, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28318437/case-240-meckel-diverticulitis
#4
R Ashley Milam, Ricardo B Fonseca
History A previously healthy 28-year-old man developed right lower quadrant pain while traveling. The pain progressed over the course of 2-3 days, and his family took him to a local emergency department. He was found to have an elevated white blood cell count of 12.2 × 10(9)/L (reference range, [3.9-10.3] × 10(9)/L), with a predominance of neutrophils. Contrast material-enhanced computed tomography (CT) of the abdomen and pelvis was performed, and findings were abnormal. The patient elected to leave the emergency department without undergoing treatment, and he returned home via airplane...
April 2017: Radiology
https://www.readbyqxmd.com/read/28315903/reconsideration-of-the-primary-and-secondary-diagnostic-criteria-of-meckel-s-diverticulum-scintigraphy-a-study-of-93-confirmed-cases
#5
Ha Wu, Xiaofei Zhao, Yiwei Li, Ruifang Zhao
OBJECTIVE: Meckel's diverticulum scintigraphy (MDS) is a common method for diagnosing ectopic gastric mucosa (EGM), but atypical images are difficult to diagnose. This study aimed to improve the understanding of the existing diagnostic criteria through a review of confirmed cases. SUBJECTS AND METHODS: A total of 352 patients underwent MDS. Among 120 patients with a positive diagnosis, 106 underwent surgery. This study analyzed the imaging presentation, surgical records, and pathological results...
March 20, 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28298027/anatomical-nuances-of-the-internal-carotid-artery-in-relation-to-the-quadrangular-space
#6
Ricardo L L Dolci, Leo F S Ditzel Filho, Carlos R Goulart, Smita Upadhyay, Lamia Buohliqah, Paulo R Lazarini, Daniel M Prevedello, Ricardo L Carrau
OBJECTIVE The aim of this study was to evaluate the anatomical variations of the internal carotid artery (ICA) in relation to the quadrangular space (QS) and to propose a classification system based on the results. METHODS A total of 44 human cadaveric specimens were dissected endonasally under direct endoscopic visualization. During the dissection, the anatomical variations of the ICA and their relationship with the QS were noted. RESULTS The space between the paraclival ICAs (i.e., intercarotid space) can be classified as 1 of 3 different shapes (i...
February 24, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28295209/a-nonsense-mutation-in-cep55-defines-a-new-locus-for-a-meckel-like-syndrome-an-autosomal-recessive-lethal-fetal-ciliopathy
#7
Marie-Louise Bondeson, Katharina Ericson, Sanna Gudmundsson, Adam Ameur, Fredrik Pontén, Jan Wesström, Carina Frykholm, Maria Wilbe
Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with two affected fetuses...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28291807/the-meckel-syndrome-associated-protein-mks1-functionally-interacts-with-components-of-the-bbsome-and-ift-complexes-to-mediate-ciliary-trafficking-and-hedgehog-signaling
#8
Sarah C Goetz, Fiona Bangs, Chloe L Barrington, Nicholas Katsanis, Kathryn V Anderson
The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins...
2017: PloS One
https://www.readbyqxmd.com/read/28289185/fifteen-years-of-research-on-oral-facial-digital-syndromes-from-1-to-16-causal-genes
#9
REVIEW
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS...
March 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28287935/heterotopic-pancreas-histopathologic-features-imaging-findings-and-complications
#10
Maryam Rezvani, Christine Menias, Kumaresan Sandrasegaran, Jeffrey D Olpin, Khaled M Elsayes, Akram M Shaaban
Heterotopic pancreas is a congenital anomaly in which pancreatic tissue is anatomically separate from the main gland. The most common locations of this displacement include the upper gastrointestinal tract-specifically, the stomach, duodenum, and proximal jejunum. Less common sites are the esophagus, ileum, Meckel diverticulum, biliary tree, mesentery, and spleen. Uncomplicated heterotopic pancreas is typically asymptomatic, with the lesion being discovered incidentally during an unrelated surgery, during an imaging examination, or at autopsy...
March 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28284478/wandering-pelvic-mass-rhabdomyosarcoma-of-the-meckel-diverticulum
#11
Sajid S Qureshi, Bharat Rekhi, Seema Kembhavi
No abstract text is available yet for this article.
March 8, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28283827/prenatal-ultrasound-genotype-and-outcome-in-a-large-cohort-of-prenatally-affected-patients-with-autosomal-recessive-polycystic-kidney-disease-and-other-hereditary-cystic-kidney-diseases
#12
Florian Erger, Nadina Ortiz Brüchle, Ulrich Gembruch, Klaus Zerres
PURPOSE: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. METHODS: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome...
April 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28283269/meckel-s-diverticulitis-in-adults-study-of-15-patients
#13
Ismael Mora-Guzmán, José Luis Muñoz de Nova, Elena Martín-Pérez
No abstract text is available yet for this article.
March 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28278439/a-case-of-single-incision-laparoscopic-surgery-for-a-bleeding-meckel-s-diverticulum-diagnosed-pre-operatively-by-double-balloon-endoscopy
#14
Toshio Shiraishi, Tetsuro Tominaga, Takashi Nonaka, Kouki Wakata, Masaki Kunizaki, Shuichi Tobinaga, Yorihisa Sumida, Shigekazu Hidaka, Naoe Kinoshita, Terumitsu Sawai, Takeshi Nagayasu
INTRODUCTION:  Meckel's diverticulum (MD) is a congenital true diverticulum that is residual yolk duct tissue, and some cases with complications require surgery. It has been reported that laparoscopic surgery is effective for patients with an MD. PRESENTATION OF CASE: A 79-year-old man with melena visited our hospital. Upper gastrointestinal series and colonoscopy showed no bleeding lesion. Double-balloon endoscopy was then performed to examine the small intestine...
February 22, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28276302/sudden-death-associated-with-incarcerated-small-bowel-due-to-mesodiverticular-band
#15
Debra S Heller, Ada Baisre, Christian Curcio, Nawar Matti, Dianne Sinquee
Meckel's diverticulum is a congenital anomaly present in about 3% of the population and usually asymptomatic. Rarely, a mesodiverticular band extends from the tip of a Meckel's diverticulum to the mesentery, thought to be due to lack of involution of the left vitelline artery. The presence of this band creates a closed loop through which loops of bowel can become entrapped. Rare case reports have described incarceration of bowel and sudden death in children. We present such a case and discuss this entity.
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28273609/a-rare-case-of-a-strangulated-littre-s-hernia-with-meckel-s-diverticulum-duplication-case-report-and-literature-review
#16
C R López-Lizárraga, M P Sánchez-Muñoz, G E Juárez-López, L Pelayo-Orozco, L F De la Cerda-Trujillo, C F Ploneda-Valencia
INTRODUCTION: The Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract present in approximately 1-4% of the population; the MD duplication is exceedingly rare with only a few reports of it. Here we present the firs case of a strangulated Littre's hernia with MD duplication. PRESENTATION OF CASE: A 30-year-old male presented to the emergency room with clinical signs of small bowel obstruction, at physical examination, a right incarcerated inguinal hernia with erythema was found...
February 21, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28255795/-213-bi-psma-617-targeted-alpha-radionuclide-therapy-in-metastatic-castration-resistant-prostate-cancer
#17
Mike Sathekge, Otto Knoesen, Marian Meckel, Moshe Modiselle, Mariza Vorster, Sebastian Marx
No abstract text is available yet for this article.
March 2, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28240037/meckel-s-diverticulum-perforated-by-a-fishbone-an-unusual-presentation
#18
Fernando Karel Fonseca Sosa
Finding a Meckel's diverticulum during a laparotomy is rare, operating on a patient for a complication of diverticulum is rare, but if this complication is the result of a perforation of the diverticulum by a foreign body, then we are in the presence of a medical curiosity. OBJECTIVE: To present the following case because despite being known, the etiological agent that caused the perforation is very unusual. METHOD: male 53 years old with a history of emergency surgically underwent surgery for acute appendicitis 10 years where he underwent an appendectomy and a non-complicated Meckel's diverticulum was identified...
February 27, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28237379/readmission-after-gastrointestinal-bleeding-in-children-a-retrospective-cohort-study
#19
Thomas M Attard, Mikaela Miller, Chaitanya Pant, Mike Thomson
INTRODUCTION: To compare the demographic, clinical, and therapeutic characteristics in a cohort of patients discharged following acute gastrointestinal bleeding, representing to the emergency department (ED) and readmitted within 30 days of discharge with the characteristics of non-readmitted patients. STUDY DESIGN: Hospitalization data was obtained from the Pediatric Hospital Information System including 49 tertiary children's hospitals in the US. Children 1-21 years of age diagnosed with acute gastrointestinal bleeding, admitted between January 2007 and September 2015 were included...
February 23, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28229609/laparoscopic-treatment-of-hemorrhagic-meckel-diverticulum-after-diagnosis-with-wireless-capsule-endoscopy-and-double-balloon-enteroscopy
#20
Haibo Yu, Hongliang Song, Jing Cai
Meckel diverticulum (MD) is a common small intestinal malformation. The difficulty of MD with hemorrhage treatment lies in preoperative diagnosis. Wireless capsule endoscopy (WCE) and double-balloon enteroscopy (DBE) have been widely used to diagnose and treat diseases of the small intestine, but only rarely have they been used in combination to diagnose and treat bleeding MD. We successfully diagnosed and treated a patient with MD with hemorrhage with a combination of WCE, DBE, and laparoscopy. A 17-year-old man presented to the emergency room with hematochezia and was admitted for testing...
February 23, 2017: Revista Española de Enfermedades Digestivas
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