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https://www.readbyqxmd.com/read/30320530/igg4-related-intracranial-disease
#1
Shahine Goulam-Houssein, Jeffrey L Grenville, Katerina Mastrocostas, David G Munoz, Amy Lin, Aditya Bharatha, Paraskevi A Vlachou
IgG4-related disease (IgG4-RD) is a multi-organ chronic inflammatory process caused by infiltration of IgG4-positive plasma cells in one or more organs. Intracranial involvement has only recently become better recognized. Our case series adds to the growing literature on the varying presentations of intracranial IgG4 by describing the clinical and imaging findings of three patients who presented to our institution with intracranial involvement. Our first patient presented with a mass-forming IgG4 pachymeningitis mimicking a sphenoid wing meningioma, which is to our knowledge the largest mass-forming pachymeningitis published in the literature...
October 15, 2018: Neuroradiology Journal
https://www.readbyqxmd.com/read/30308341/meckel-s-cave-epidermoid-cyst-presenting-as-multiple-cranial-nerve-deficits-due-to-indirect-tumoral-compression-of-the-cavernous-sinus-a-case-report-and-literature-review
#2
Christopher M Busch, Joshua T Prickett, Rachel Stein, Joshua A Cuoco, Eric A Marvin, Mark R Witcher
BACKGROUND: Epidermoid cysts in Meckel's cave are exceedingly rare. Since 1971, only 17 cases have been reported in the literature with the majority of patients presenting with trigeminal hypesthesia. However, outgrowth of these lesions from Meckel's cave can rarely lead to compression of the proximate cavernous sinus and the neurovascular structures contained within. To date, two cases have reported a Meckel's cave epidermoid cyst presenting clinically as an intracavernous cranial nerve palsy, presumably a clinical manifestation of cavernous sinus compression from the lesion...
October 8, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/30293716/intraflagellar-transport-complex-a-genes-differentially-regulate-cilium-formation-and-transition-zone-gating
#3
Noémie Scheidel, Oliver E Blacque
Cilia are found on most eukaryotic cell types, serving motility, environment sensing, and signaling (cell-cell) functions, and defects cause genetic diseases (ciliopathies), affecting the development of many tissues [1]. Cilia are built by intraflagellar transport (IFT), a bidirectional microtubule-based motility driven by kinesin-2 anterograde (toward ciliary tip) and IFT-dynein retrograde (toward ciliary base) motors together with IFT-A and IFT-B cargo adaptor complexes that control retrograde and anterograde IFT, respectively [2]...
September 12, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/30288550/head-skeleton-malformations-in-zebrafish-danio-rerio-to-assess-adverse-effects-of-mixtures-of-compounds
#4
Yvonne C M Staal, Jeroen Meijer, Remco J C van der Kris, Annamaria C de Bruijn, Anke Y Boersma, Eric R Gremmer, Edwin P Zwart, Piet K Beekhof, Wout Slob, Leo T M van der Ven
The EU-EuroMix project adopted the strategy of the European Food Safety Authority (EFSA) for cumulative risk assessment, which limits the number of chemicals to consider in a mixture to those that induce a specific toxicological phenotype. These so-called cumulative assessment groups (CAGs) are refined at several levels, including the target organ and specific phenotype. Here, we explore the zebrafish embryo as a test model for quantitative evaluation in one such CAG, skeletal malformations, through exposure to test compounds 0-120 hpf and alcian blue cartilage staining at 120 hpf, focusing on the head skeleton...
October 4, 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/30287249/hemangioblastomatosis-associated-negative-pressure-hydrocephalus-managed-with-improvised-shunt
#5
Abdul Badran, Matthew J Shepard, Alexander Ksendzovsky, Roger Murayi, Christina Hayes, DeeDee Smart, Prashant Chittiboina
Low-pressure hydrocephalus (LPH) is a rare clinical diagnosis, characterized by neurologic decline and ventriculomegaly that persists despite normal to low intracranial pressure. LPH is typically managed by negative-pressure drainage via ventriculostomy, followed by low-resistance shunt insertion. We present the case of a middle-aged man with a history of hemangioblastomatosis who had spontaneous subarachnoid hemorrhage. He was treated with a ventriculoperitoneal shunt and then underwent resection of a Meckel's cave hemangioblastoma and whole brain irradiation...
October 1, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/30286481/tectonic-proteins-are-important-players-in-non-motile-ciliopathies
#6
Siyi Gong, Feng Ji, Bin Wang, Yingying Zhang, Xingshun Xu, Miao Sun
Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To date, nearly 200 genes have been shown to be associated with primary ciliopathies. Among them, tectonic genes are the important causative genes of ciliopathies. Tectonic proteins including TCTN1, TCTN2, and TCTN3 are important component proteins residing at the transition zone of cilia...
October 4, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/30283607/inverted-meckel-s-diverticulum-two-case-reports-and-a-review-of-the-literature
#7
Eui Hyuk Chong, Dae Jung Kim, Sewha Kim, Gwangil Kim, Woo Ram Kim
Gastrointestinal surgeons seldom encounter inverted Meckel's diverticulum in their clinical practice. We describe two cases of inverted Meckel's diverticulum. If the patient has a disease-related complication such as intussusception, as with our first case, it can be easily detected. However, if the patient has subacute or chronic symptoms, as with our second case, the diagnosis might be delayed. Regardless of the disease-related complication, intussusception of inverted Meckel's diverticulum can be easily managed with laparoscopic single-port surgery...
September 27, 2018: World Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/30280064/a-rare-case-of-melanotic-schwannoma-utility-of-susceptibility-weighted-sequences-in-preoperative-imaging
#8
Fatima Mubarak, Asra Tanwir, Waseem M Nizamani
Intracranial schwannomas account for 8% of all intracranial tumors, out of which 90% are acoustic schwannomas. Other rare varieties include trigeminal melanotic schwannomas that account for 0.2% of all intracranial tumors. Melanotic schwannomas are intracranial tumors that are heavily pigmented due to the presence of melanin. The most common origination of the tumor involves being confined to Meckel's cave, presenting with features of trigeminal neuralgia, neurasthenia, and numbness. We report a case of a 48-year-old male presenting with dysarthria, left-sided hemiparesis, dysphagia, and headache for the past six months...
July 30, 2018: Curēus
https://www.readbyqxmd.com/read/30268353/hox-a2-protein-expression-in-mouse-embryo-middle-ear-ossicles
#9
S Louryan, Marie Lejong, Myriam Choa-Duterre, Nathalie Vanmuylder
The origin of the mammalian middle ear ossicles from mandibular and hyoid pharyngeal arches remains controversial and discussed. Two adverse theories are proposed. The first claims that malleus and incus derive from the Meckel's cartilage of the mandibular arch, and stapes from Reichert's cartilage of the hyoid arch. The second postulates that handle of malleus and long process of the incus are derived from the second arch as well as the stapes. Contradictory analyses support alternatively each theory without any experimental evidence...
September 26, 2018: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/30267408/whole-exome-sequencing-resolves-complex-phenotype-and-identifies-cc2d2a-mutations-underlying-non-syndromic-rod-cone-dystrophy
#10
Cécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, Camille Andrieu, Said El Shamieh, Aline Antonio, Christel Condroyer, Fiona Boyard, Marine Foussard, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod-cone dystrophy (RCD), the youngest with early-onset cone-rod dystrophy and the two youngest with nephrotic-range proteinuria. Targeted next-generation sequencing did not identify homozygous pathogenic variant in the oldest brother. Whole exome sequencing (WES) applied to the family identified compound heterozygous variants in CC2D2A (c.2774G>C p.(Arg925Pro); c.4730_4731delinsTGTATA p.(Ala1577Valfs*5)) in the three brothers with a homozygous deletion in CNGA3 (c...
September 29, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30259784/meckel-s-diverticulum-in-the-adult-surgical-treatment
#11
Ismael Mora-Guzmán, José Luis Muñoz de Nova, Elena Martín-Pérez
INTRODUCTION: Management of asymptomatic Meckel's diverticulum (MD) incidentally discovered in adults remains controversial. The aim of this study was to determine if incidental diverticula should be removed. MATERIALS AND METHODS: We reviewed a consecutive series of patients surgically managed from January 1994 to December 2016. Patients were divided into two groups according to symptomatic or asymptomatic diverticula, and characteristics were compared. RESULTS: The study included 66 patients: 30 in the symptomatic group (45%) and 36 in the incidental group (55%)...
September 27, 2018: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/30258480/supraorbital-nerve-and-cavernous-sinus-invasion-with-poorly-differentiated-carcinoma-of-unknown-primary
#12
Saagar N Patel, Mohammad Obadah Nakawah, Ama Sadaka, Shauna Berry, Juan Ortiz Gomez, Suzanne Powell, Andrew G Lee
A 50-year-old man presented with a 4-month history of right-sided trigeminal neuropathy in the V1 and V2 distribution, right sixth nerve palsy and Horner syndrome. Magnetic resonance imaging (MRI) showed enhancement and thickening along the right ophthalmic nerve and supraorbital nerve and fullness at the right cavernous sinus extending to Meckel's cave. Evaluation for a primary tumour was negative. Cavernous sinus biopsy showed infiltrating poorly differentiated carcinoma; the patient underwent radiation therapy...
October 2018: Neuro-ophthalmology
https://www.readbyqxmd.com/read/30257301/meckel-s-cave-meningiomas-new-classification-system-focalized-on-dumbbell-lesions-deriving-from-the-morphometric-analysis-of-the-posterior-petrous-apicectomy-on-fresh-non-formalin-fixed-specimens-a-correlative-anatomoclinical-study
#13
Lorenzo Pescatori, Maria Pia Tropeano, Pasqualino Ciappetta
BACKGROUND: The Meckel's cave (MC) is commonly affected by neoplastic lesions that often require neurosurgical treatment. We simulated the posterior petrous apicectomy (PPA) on fresh cadavers to verify the in vivo feasibility of the approach. We proposed a new classification system of MC meningioma based on the extent of middle cranial fossa (MCF) involvement. METHODS: Ten fresh, non-formalin-fixed specimens were used in this study. Through a retrosigmoid approach, 20 PPAs were performed...
October 2018: World Neurosurgery
https://www.readbyqxmd.com/read/30248286/a-rare-cause-of-acute-abdomen-isolated-necrosis-of-the-cecum
#14
Kemal Eyvaz, Hasan Ediz Sıkar, Mehmet Gökçeimam, Hasan Fehmi Küçük, Necmi Kurt
We would like to present the case of a 76-year-old female patient with cecal necrosis, which is a rare cause of acute abdomen in elderly women and a variant of ischemic colitis. The patient was admitted to our hospital with abdominal pain, anorexia, and nausea. Physical examination, laboratory parameters, and abdominal computed tomography revealed acute abdomen. We operated the patient with an infra-umbilical midline incision. Considering the pain localized to the right lower quadrant, our initial diagnosis was acute appendicitis; however, we kept in mind other differential diagnoses as well...
September 11, 2018: Turkish Journal of Surgery
https://www.readbyqxmd.com/read/30238766/meckel-s-diverticulitis-a-laparoscopic-approach
#15
Rosa Martí Fernández, Carlos León Espinoza, Rocío Tonazzi Zorrilla
Meckel's diverticulum is an infrequent malformation (2% of the population) and the most frequent complication is bleeding followed by diverticulitis. This usually occurs with clinical signs and symptoms of acute appendicitis in adults. The diagnosis requires a high index of suspicion and is based on complementary tests in most cases (mainly CT).
September 21, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/30235734/complicated-meckel-s-diverticulum-presentation-modes-in-adults
#16
Alina Parvanescu, Matthieu Bruzzi, Thibault Voron, Camille Tilly, Franck Zinzindohoué, Jean-Marc Chevallier, Marco Gucci, Philippe Wind, Anne Berger, Richard Douard
Complicated Meckel's diverticulum represents a common etiology of acute abdomen in children. However, this condition is less frequent in adults. We reviewed the records of adult patients who underwent the surgical removal of complicated Meckel's diverticulum between 2001 and 2017 at 2 tertiary French medical centers. We then analyzed the clinical characteristics, mode of presentation, and management for all patients.The Meckel's diverticulum was resected in 37 patients (24 males and 13 females). The mean patient age was 46...
September 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30234126/meckel-s-diverticulum-in-adults-surgical-concerns
#17
REVIEW
Konstantinos Blouhos, Konstantinos A Boulas, Konstantinos Tsalis, Nikolaos Barettas, Aikaterini Paraskeva, Ioannis Kariotis, Christodoulos Keskinis, Anestis Hatzigeorgiadis
Since Meckel's diverticulum (MD) is rarely diagnosed in adults, there is no consensus on what type of procedure to be performed for symptomatic MD and whether to resect or not an accidentally discovered MD. Treatment of symptomatic MD is definitive surgery, including diverticulectomy, wedge, and segmental resection. The type of procedure depends on: (a) the integrity of diverticulum base and adjacent ileum; (b) the presence and location of ectopic tissue within MD. The presence of ectopic tissue cannot be accurately predicted intraoperatively by palpation and macroscopic appearance...
2018: Frontiers in Surgery
https://www.readbyqxmd.com/read/30233019/surgical-excision-of-large-to-giant-petroclival-meningiomas-focusing-on-the-middle-fossa-approaches-the-lessons-learnt
#18
Jaskaran Singh Gosal, Sanjay Behari, Jeena Joseph, Awadhesh K Jaiswal, Jayesh C Sardhara, Mohammad Iqbal, Anant Mehrotra, Arun K Srivastava
Introduction: Petroclival meningiomas are based on or arising from the petro-clival junction in upper two-thirds of clivus, medial to the fifth cranial nerve. This study focuses on the surgical experience in resecting large-giant tumors >3.5 in size predominantly utilizing middle fossa approaches. Material and Methods: 33 patients with a large or a giant petroclival meningioma (size >3.5 cm) were included. Clinical features, preoperative radiological details, operative findings, and postoperative clinical course at the follow-up visit were reviewed...
September 2018: Neurology India
https://www.readbyqxmd.com/read/30227894/significant-bleeding-from-meckel-s-diverticulum-after-blunt-abdominal-trauma-a-case-report
#19
Sharfuddin Chowdhury, Abdullah Maher Alenazi, Yam Alwi Alharthi
BACKGROUND: Meckel's diverticulum, with an incidence of 2%, is the most common congenital anomaly in the gastrointestinal tract. Its main complications are perforation, obstruction, and bleeding. A few studies have reported that blunt abdominal trauma may result in perforation or obstruction to Meckel's diverticulum. However, reports of significant major intestinal bleeding from Meckel's diverticulum as a complication of blunt abdominal trauma is rare. This paper present what we believe to be the first reported case of significant intestinal bleeding from a Meckel's diverticulum following blunt abdominal trauma...
September 19, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/30226493/-divert%C3%A3-culo-de-meckel-con-tejido-pancre%C3%A3-tico-ect%C3%A3-pico-en-un-ni%C3%A3-o-de-12-a%C3%A3-os-con-invaginaci%C3%A3-n-intestinal-reporte-de-caso-y-revisi%C3%A3-n-de-la-literatura
#20
Sonia Guzmán-Martínez, Alfonso Galván-Montaño, Sonia Lara-Escalera, M A Del Rocío Estrada Hernández, Alejandro García-Peña, Erika G Castañeda-Ángeles, Paulina Rojas-Muñoz, Silvia García-Moreno
Introducción: El divertículo de Meckel es un remanente del conducto onfalomesentérico y su prevalencia es del 2%. Caso clínico: Niño de 12 años con dolor abdominal, acompañado de evacuaciones mucosanguinolentas y hematemesis, con masa en cuadrante inferior derecho. En la laparotomía quirúrgica se encontró invaginación, y se realizó desinvaginación y resección del divertículo de Meckel. Conclusión: La asociación de divertículo de Meckel con tejido pancreático heterotópico en niños es poco frecuente...
2018: Cirugia y Cirujanos
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