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https://www.readbyqxmd.com/read/28449119/mutations-in-thap11-cause-an-inborn-error-of-cobalamin-metabolism-and-developmental-abnormalities
#1
Anita M Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A Geiger, Abigail Watson, Victoria L Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S Rosenblatt, Tamim H Shaikh
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors, have been associated with cblX. HCFC1 regulates cobalamin metabolism via the regulation of MMACHC expression through its interaction with THAP11, a THAP domain-containing transcription factor. The HCFC1/THAP11 complex potentially regulates genes involved in diverse cellular functions including cell cycle, proliferation, and transcription...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28445911/involution-von-cherubismus-im-mrt-unter-therapie-mit-imatinib
#2
Sebastian Eiden, Ekkehart Lausch, Stephan Meckel
No abstract text is available yet for this article.
April 26, 2017: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/28435651/a-pediatric-case-of-meckel-diverticulum-with-uncommon-presentation-showing-no-lower-gastrointestinal-bleeding
#3
Sanaz Mehrabani, Soheil Osia
Meckel's diverticulum (MD) is the most common congenital abnormality of the gastrointestinal tract. Painless intestinal hemorrhage is a frequently occurring complication that relates to MD in children. Bowel obstruction is a rare complication of MD in children. We report on the case of a four-year old male child who presented with abdominal pain and hematemesis. Finally, bowel obstruction due to MD was confirmed at surgery.
March 22, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28421109/bleeding-meckel-s-diverticulum-in-children-the-diagnostic-value-of-double-balloon-enteroscopy
#4
Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong
Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28414273/oriented-clonal-cell-dynamics-enables-accurate-growth-and-shaping-of-vertebrate-cartilage
#5
Marketa Kaucka, Tomas Zikmund, Marketa Tesarova, Daniel Gyllborg, Andreas Hellander, Josef Jaros, Jozef Kaiser, Julian Petersen, Bara Szarowska, Phillip T Newton, Vyacheslav Dyachuk, Lei Li, Hong Qian, Anne-Sofie Johansson, Yuji Mishina, Josh Currie, Elly M Tanaka, Alek Erickson, Andrew Dudley, Hjalmar Brismar, Paul Southam, Enrico Coen, Min Chen, Lee S Weinstein, Ales Hampl, Ernest Arenas, Andrei S Chagin, Kaj Fried, Igor Adameyko
Cartilaginous structures are at the core of embryo growth and shaping before the bone forms. Here we report a novel principle of vertebrate cartilage growth that is based on introducing transversally-oriented clones into pre-existing cartilage. This mechanism of growth uncouples the lateral expansion of curved cartilaginous sheets from the control of cartilage thickness, a process which might be the evolutionary mechanism underlying adaptations of facial shape. In rod-shaped cartilage structures (Meckel, ribs and skeletal elements in developing limbs), the transverse integration of clonal columns determines the well-defined diameter and resulting rod-like morphology...
April 17, 2017: ELife
https://www.readbyqxmd.com/read/28413865/protein-losing-enteropathy-caused-by-spontaneous-reduction-of-intussusception-with-meckel-s-diverticulum
#6
Eri Tei, Hitoshi Hirakawa, Masaharu Mori, Takeshi Hirabayashi, Shigeru Ueno
Protein-losing enteropathy (PLE) is a relatively rare condition. In this article, we report the case of a 6-year-old boy diagnosed with PLE who developed intussusception, in whom at operation Meckel's diverticulum was identified in his intestine. Spontaneous reduction of intussusception is thought to relate to the mechanism of PLE.
April 20, 2017: Tokai Journal of Experimental and Clinical Medicine
https://www.readbyqxmd.com/read/28408631/asymmetric-meckel-cave-enlargement-a-potential-marker-of-phaces-syndrome
#7
J N Wright, V Wycoco
BACKGROUND AND PURPOSE: PHACES syndrome is a complex of morphologic abnormalities of unknown cause and includes posterior fossa abnormalities; head and neck infantile hemangiomas; arterial, cardiac, and eye anomalies; and sternal or abdominal wall defects. Accurate identification of the syndrome is important for optimal treatment. The purpose of this study was to investigate the incidence of asymmetric Meckel cave enlargement, a potential novel imaging marker, in a population of patients referred for evaluation of possible PHACES syndrome...
April 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28399839/case-report-preoperatively-diagnosed-perforated-meckel-s-diverticulum-containing-gastric-and-pancreatic-type-mucosa
#8
Georges A Abizeid, Hager Aref
BACKGROUND: Meckel's diverticulum is the most common congenital malformation of the gastrointestinal tract, and it represents a persistent remnant of the omphalomesenteric duct. Although it mostly remains silent, its infrequent occurrence is mirrored by the paucity of large series of data on it in the literature. Hemorrhage, obstruction and inflammation are most common complications of Meckel's diverticulum. Perforation of Meckel's diverticulum is considered very rare. CASE PRESENTATION: We present the case of a 17-year -old male, who presented to the emergency department with 1-day history of lower abdominal pain...
April 11, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28394552/multiple-intracranial-schwannomas-case-report
#9
Mario Mihalj, Krešimir Dolić, Pavao Jurinović, Nikolina Ivica Miše, Marina Titlić, Irena Pintarić
Schwannomas are benign encapsulated tumors arising from the sheaths of peripheral nerves. They present as slowly enlarging solitary lumps, which may cause neurological defects. Multiple schwannomas in non-neurofi bromatosis type 2 patients are extremely rare. We report a case of a 60-year-old female patient, without any family history of neurofibromatosis or schwannomatosis, presented with trigeminal neuralgia and progressive facial nerve palsy. Magnetic resonance imaging revealed the presence of acoustic schwannoma involving facial nerve and trigeminal schwannoma of the cisternal part of the nerve involving gasserian ganglion (Meckel’s cave)...
June 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/28374938/diagnostic-use-of-computational-retrotransposon-detection-successful-definition-of-pathogenetic-mechanism-in-a-ciliopathy-phenotype
#10
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c...
April 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28372457/meckel%C3%A2-s-diverticulum-bleeding-detected-by-capsule-endoscopy
#11
José Francisco Juanmartiñena Fernández, Iñaki Fernández-Urién Sainz, Cristina Saldaña Dueñas, Rosa Iglesias Picazo
A 28-year-old man diagnosed with Charge syndrome and no history of NSAIDs ingestion was referred due to the presentation in the previous 24 h of melenic stools with a negative upper endoscopy. Physical examination was unremarkable, although laboratory tests showed anemia. On the second day, significant painless rectal bleeding and the decrease of hematocrit levels responding to blood transfusion were observed, so colonoscopy was recommended but completely rejected by the patient. Therefore, capsule endoscopy was performed, identifying a saccular image in the terminal ileum suggestive of a Meckel's diverticulum...
April 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28359587/optimizing-surgical-resection-of-the-bleeding-meckel-diverticulum-in-children
#12
Jamie R Robinson, Hernan Correa, Adam S Brinkman, Harold N Lovvorn
PURPOSE: Meckel diverticula containing gastric heterotopia predispose to local hyperacidity, mucosal ulceration, and gastrointestinal bleeding in children. Eradication of acid-producing oxyntic cells is performed by either of two surgical methods: segmental enterectomy including the diverticulum or diverticulectomy only. METHODS: Retrospective review of all children having surgical resection of a Meckel diverticulum at a tertiary-referral children's hospital from 2002 to 2016 was performed...
March 23, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28350977/small-bowel-obstruction-caused-by-anisakis-and-meckel-s-diverticulum-a-rare-case
#13
G Carbotta, R Laforgia, Michele Milella, M G Sederino, M Minafra, F Fortarezza, D Piscitelli, N Palasciano
INTRODUCTION: Anisakiasis is a parasitic infection caused by the ingestion of raw fish contaminated by larval nematodes of Anisakis species. Intestinal or extraintestinal manifestations are rated to > 4% and >1% respectively. PRESENTATION OF CASE: A 61-year old patient was admitted to our General Surgical and Emergency Unit because of sudden abdominal pain, vomit and constipation. He had eaten raw fish 3 days before admission. Laboratory data showed high levels of WBC and PCR...
November 2016: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/28348418/expression-of-cgrp-vasculogenesis-and-osteogenesis-associated-mrnas-in-the-developing-mouse-mandible-and-tibia
#14
Yuuki Maeda, Yoko Miwa, Iwao Sato
The neuropeptide Calcitonin Gene-Related Peptide (CGRP) is a well-characterized neurotransmitter. However, little is known about the role of CGRP in osteogenesis and vascular genesis during the developmental formation of bone. In the present study, we assessed the abundance of CGRP mRNA and the mRNA of osteogenesis and vascular genesis markers in the foetal mouse mandible and leg bone (tibia). We also analysed the expression and localization of CGRP, osteopontin (OPN) and vascular endothelial growth factor (VEGF-A) using in situ hybridization and immunohistochemical localization in the mouse mandible and tibia at embryonic days 12...
January 23, 2017: European Journal of Histochemistry: EJH
https://www.readbyqxmd.com/read/28344951/a-case-of-littr%C3%A3-s-hernia-at-zinder-national-hospital-zinder-niger
#15
I Amadou Magagi, H Adamou, O Habou
The presence of a Meckel's diverticulum in a hernia sac is known as Littré's hernia. We report a case of Littré's hernia in an 18-year old young man because of the uncommon condition. An 18-year old young patient was admitted to the Emergency Surgical Department of Zinder National Hospital, Zinder, Niger with a painful inguinoscrotal swelling of three days duration. The diagnosis of strangulated right inguinoscrotal hernia was made. At surgery, a Meckel's diverticulum was found at the antimesenteric border of the ileum in the hernia sac, the bowel loop was not viable...
April 2016: Journal of the West African College of Surgeons
https://www.readbyqxmd.com/read/28334780/eif4a3-deficient-human-ipscs-and-mouse-models-demonstrate-neural-crest-defects-that-underlie-richieri-costa-pereira-syndrome
#16
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
#17
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
#18
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
#19
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
#20
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...
January 2017: Hellenic Journal of Nuclear Medicine
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