keyword
MENU ▼
Read by QxMD icon Read
search

Midline defects

keyword
https://www.readbyqxmd.com/read/29330076/frontoethmoidal-schwannoma-with-exertional-cerebrospinal-fluid-rhinorrhea-a-case-report-and-review-of-the-literature
#1
Yuichiro Yoneoka, Katsuhiko Akiyama, Yasuhiro Seki, Go Hasegawa, Akiyoshi Kakita
BACKGROUND: Frontoethmoidal schwannomas are rare. No case manifesting exertional cerebrospinal fluid (CSF) rhinorrhea has ever been reported to the best of our knowledge. CASE DESCRIPTION: In this report, we describe an extremely rare case of frontoethmoidal schwannoma extending through the olfactory groove (OG) with exertional CSF rhinorrhea as the initial symptom. A 50-year-old woman was presented to our clinic for frequent nasal discharge on exertion. A postcontrast computed tomographic scan demonstrated heterogeneously enhanced tumor from the anterior cranial fossa to the anterior ethmoid sinus...
January 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#2
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29321670/clinical-and-experimental-evidence-suggest-a-link-between-kif7-and-c5orf42-related-ciliopathies-through-sonic-hedgehog-signaling
#3
Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Orly Elpeleg, Tim M Strom, Pascal Joset, Dunja Niedrist, Christine Otte, Beatrice Oneda, Paranchai Boonsawat, Silvia Azzarello-Burri, Deborah Bartholdi, Michael Papik, Markus Zweier, Cordula Haas, Arif B Ekici, Alessandra Baumer, Eugen Boltshauser, Katharina Steindl, Michael Nothnagel, Albert Schinzel, Esther T Stoeckli, Anita Rauch
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29314321/percutaneous-fetoscopic-closure-of-large-open-spina-bifida-using-a-bilaminar-skin-substitute
#4
Denise A Lapa Pedreira, Gregório L Acacio, Rodrigo T Gonçalves, Renato Augusto M Sá, Reynaldo A Brandt, Ramen Chmait, Eftichia Kontopoulos, Ruben A Quintero
OBJECTIVE: We have previously described our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. We hereby describe a modification of our standard technique using a bilaminar skin substitute to allow closure of such large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large spina bifida defects...
January 4, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29309326/components-separation-for-abdominal-wall-reconstruction-in-the-recalcitrant-high-comorbidity-patient-a-review-of-311-single-surgeon-cases
#5
Sanjay Naran, Sameer Shakir, Kenneth C Shestak, James M Russavage, Vu T Nguyen
PURPOSE: Components separation of the abdominal musculature remains a mainstay for closure of complicated midline and paramedian abdominal wall defects. The authors critically analyzed their experience with this technique to identify prognosticators affecting long-term clinical outcomes. METHODS: A retrospective review was performed of patients undergoing components separation by a single senior surgeon (J.M.R.) between 2000 and 2010. Numerous perioperative patient characteristics were collected and analyzed to determine their effects on long-term clinical outcomes...
January 5, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29306776/histological-and-chemical-analyses-of-mesiodens-development-and-mineralization
#6
Awady Muhamad, Moskovitz Moti, Cohen Ornit, Zilberman Uri
OBJECTIVE: This study aimed to compare the developmental timing and mineralization quality of mesiodentes, i.e., supernumerary teeth located mainly in the midline of the maxilla between the central incisors, with the developmental timing and mineralization quality of permanent and primary central incisors. DESIGN: Sixteen mesiodentes, nine permanent and seven primary central incisors were collected. The location of the neonatal line was determined using a light microscope at 10× or 20× enlargements...
December 23, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29285332/correlations-between-dental-malocclusions-ocular-motility-and-convergence-disorders-a-cross-sectional-study-in-growing-subjects
#7
P Bollero, M R Ricchiuti, G Laganà, G DI Fusco, R Lione, P Cozza
Objective: The purpose of the study was to analyze the association between dento-skeletal malocclusions, ocular motility, and convergence disorders in growing subjects. Materials and methods: 84 subjects (49 males, 35 females) with a mean age of 7.3±1.7 years were enrolled in a screening procedure for celiac disease at the Department of Gastroenterology of the University of Rome "Tor Vergata". Each child underwent an orthodontic, orthoptic, and ophtalmological examination...
July 2017: Oral & Implantology
https://www.readbyqxmd.com/read/29240780/filamina-and-formin2-regulate-skeletal-muscular-and-intestinal-formation-through-mesenchymal-progenitor-proliferation
#8
Gewei Lian, Sneha Kanaujia, Timothy Wong, Volney Sheen
The effects of actin dependent molecular mechanisms in coordinating cellular proliferation, migration and differentiation during embryogenesis are not well-understood. We have previously shown that actin-binding Filamin A (FlnA) and actin-nucleating Formin 2 (Fmn2) influence the development of the brain causing microcephaly in mice. In this study, we broaden this phenotype to explore the effects of these two proteins in the development of extra-CNS organ systems, including the gut, muscle, and skeleton. We observed defects in rib and sternum midline closure leading to thoracoabdominal schisis in FlnA+Fmn2 knockout mice, reminiscent of the pentalogy of Cantrell syndrome...
2017: PloS One
https://www.readbyqxmd.com/read/29232713/long-disordered-regions-of-the-c-terminal-domain-of-abelson-tyrosine-kinase-have-specific-and-additive-functions-in-regulation-and-axon-localization
#9
Han S J Cheong, Mark F A VanBerkum
Abelson tyrosine kinase (Abl) is a key regulator of actin-related morphogenetic processes including axon guidance, where it functions downstream of several guidance receptors. While the long C-terminal domain (CTD) of Abl is required for function, its role is poorly understood. Here, a battery of mutants of Drosophila Abl was created that systematically deleted large segments of the CTD from Abl or added them back to the N-terminus alone. The functionality of these Abl transgenes was assessed through rescue of axon guidance defects and adult lethality in Abl loss-of-function, as well as through gain-of-function effects in sensitized slit or frazzled backgrounds that perturb midline guidance in the Drosophila embryonic nerve cord...
2017: PloS One
https://www.readbyqxmd.com/read/29226879/diastasis-recti-associated-with-midline-hernias-totally-subcutaneous-video-endoscopic-repair
#10
Walter Sebastian Nardi, Guido Luis Busnelli, Ariel Tchercansky, Daniel E Pirchi, Pablo José Medina
A 63-year-old man with a history of a conventional cholecystectomy was referred to our department for an incisional subcostal hernia and chronic back pain. Physical examination also showed an umbilical hernia and diastasis recti measuring 6 cm that was confirmed with a computed tomography scan. Subcutaneous video-endoscopic repair was done repairing all defects simultaneously.
December 11, 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/29226552/spontaneously-regressing-brain-lesions-in-smith-lemli-opitz-syndrome
#11
An N Dang Do, Eva H Baker, Katherine E Warren, Simona E Bianconi, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29224706/prophylactic-placement-of-permanent-synthetic-mesh-at-the-time-of-ostomy-closure-prevents-formation-of-incisional-hernias
#12
Jeremy A Warren, Lucas R Beffa, Alfredo M Carbonell, Jennifer Cull, Brent Sinopoli, Joseph A Ewing, Cedrek McFadden, Jay Crockett, William S Cobb
BACKGROUND: Reversal of an enterostomy results in a high rate of incisional hernia at the ostomy site. Prophylactic mesh reinforcement of the fascial defect is typically not considered due to the contaminated nature of the case. We present the outcomes of a series of prophylactic mesh reinforcements with retromuscular, large-pore polypropylene at the time of enterostomy reversal. METHODS: Retrospective review of all ostomy reversals was performed. All cases with placement of synthetic mesh reinforcement were identified from a prospectively maintained, hernia database...
December 7, 2017: Surgery
https://www.readbyqxmd.com/read/29203345/midline-facial-defects-with-associated-brain-anomaly
#13
Jin Kyu Kim, Sun Jun Kim
No abstract text is available yet for this article.
October 27, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29178981/translating-computer-aided-design-and-surgical-planning-into-successful-mandibular-reconstruction-using-a-vascularized-iliac-crest-flap
#14
Lei Zheng, Xiaoming Lv, Jie Zhang, Shuming Liu, Jianguo Zhang, Yi Zhang
PURPOSE: This study evaluated the computer-aided approach to the reconstruction of mandibular defects using a vascularized iliac-crest flap. MATERIALS AND METHODS: From December 2015 to October 2016, 14 patients (8 men and 6 women) 18 to 64 years old (median age, 29 yr) were treated at the Peking University School and Stomatology Hospital (Beijing, China). Biopsy specimens from all patients were subjected to histologic examination before segmental mandibulectomy...
November 3, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29178194/aplasia-cutis-congenita-evaluation-of-signs-suggesting-extracutaneous-involvement
#15
Deepa P Patel, Leslie Castelo-Soccio, Albert C Yan
Specific clinical features of aplasia cutis congenita may indicate the presence of underlying cranial or cerebrovascular defects, allowing for early recognition and intervention. Most information about aplasia cutis congenita exists as individual case reports, with few large-scale studies. We conducted a 7-year retrospective chart review of 90 cases of aplasia cutis congenita and identified clinical characteristics including morphology, number of lesions, anatomic location, presence of hair collar sign, associated cutaneous features, histology, and imaging results...
November 27, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#16
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29107171/progression-from-isolated-growth-hormone-deficiency-to-combined-pituitary-hormone-deficiency
#17
REVIEW
Manuela Cerbone, Mehul T Dattani
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic)...
December 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29099309/the-autophagy-inducing-kinases-ulk1-and-ulk2-regulate-axon-guidance-in-the-developing-mouse-forebrain-via-a-noncanonical-pathway
#18
Bo Wang, Rekha Iyengar, Xiujie Li-Harms, Joung Hyuck Joo, Christopher Wright, Alfonso Lavado, Linda Horner, Mao Yang, Jun-Lin Guan, Sharon Frase, Douglas R Green, Xinwei Cao, Mondira Kundu
Mammalian ULK1 (unc-51 like kinase 1) and ULK2, Caenorhabditis elegans UNC-51, and Drosophila melanogaster Atg1 are serine/threonine kinases that regulate flux through the autophagy pathway in response to various types of cellular stress. C. elegans UNC-51 and D. melanogaster Atg1 also promote axonal growth and defasciculation; disruption of these genes results in defective axon guidance in invertebrates. Although disrupting ULK1/2 function impairs normal neurite outgrowth in vitro, the role of ULK1 and ULK2 in the developing brain remains poorly characterized...
November 3, 2017: Autophagy
https://www.readbyqxmd.com/read/29089675/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report
#19
P Shalini, Virna M Shah
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29062444/laparoscopic-repair-of-large-suprapubic-hernias
#20
Hasan Ediz Sikar, Kenan Çetin, Kemal Eyvaz, Levent Kaptanoglu, Hasan Fehmi Küçük
INTRODUCTION: Suprapubic hernia is the term to describe ventral hernias located less than 4 cm above the pubic arch in the midline. Hernias with an upper margin above the arcuate line encounter technical difficulties, and the differences in repair methods forced us to define them as large suprapubic hernias. AIM: To present our experience with laparoscopic repair of large suprapubic hernias that allows adequate mesh overlap. MATERIAL AND METHODS: Nineteen patients with suprapubic incisional hernias who underwent laparoscopic repair between May 2013 and January 2015 were included in the study...
September 2017: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
keyword
keyword
36079
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"