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https://www.readbyqxmd.com/read/29037557/prenatal-diagnosis-of-isochromosome-20q-in-a-fetus-with-vertebral-anomaly-and-rocker-bottom-feet
#1
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037343/the-prevalence-of-selected-major-birth-defects-in-the-united-states
#2
REVIEW
Russell S Kirby
Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This article provides an overview of the prevalence, trends and selected socio-demographic risk factors for several major birth defects, including neural tube defects, cranio-facial anomalies, congenital heart defects, trisomies 13, 18, and 21, and gastroschisis and omphalocele. Attention should focus on strengthening existing registries, creating birth defects surveillance programs in states that do not have them, and standardizing registry methods so that broadly national data to monitor these trends are available...
October 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/29033207/corrigendum-to-the-influence-of-different-abutment-materials-on-tissue-regeneration-after-surgical-treatment-of-peri-implantitis-a-randomized-controlled-preclinical-study-j-cranio-maxillo-facial-surg-45-2017-1190-1196
#3
Tobias Moest, Jan Wrede, Christian Martin Schmitt, Melanie Stamp, Friedrich Wilhelm Neukam, Karl Andreas Schlegel
No abstract text is available yet for this article.
October 12, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#4
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28963668/assessing-and-treating-primary-headaches-and-cranio-facial-pain-in-patients-undergoing-rehabilitation-for-neurological-diseases
#5
Cristina Tassorelli, Marco Tramontano, Mariangela Berlangieri, Vittorio Schweiger, Mariagrazia D'Ippolito, Valerio Palmerini, Sara Bonazza, Riccardo Rosa, Rosanna Cerbo, Maria Gabriella Buzzi
BACKGROUND: Pain is a very common condition in patient undergoing rehabilitation for neurological disease; however the presence of primary headaches and other cranio-facial pains, particularly when they are actually or apparently independent from the disability for which patient is undergoing rehabilitation, is often neglected. Diagnostic and therapeutic international and national guidelines, as well as tools for the subjective measure of head pain are available and should also be applied in the neurorehabilitation setting...
September 29, 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28865714/removed-false-aneurysm-of-the-facial-artery-as-complication-of%C3%A2-sagittal-split-osteotomy-journal-of-cranio-maxillofacial-surgery-%C3%A2-volume-36-issue-3-april-2008-pages-180-182
#6
Helena Pappa, David Richardson, Sasha Niven
No abstract text is available yet for this article.
September 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28843407/the-feasibility-of-cold-atmospheric-plasma-in-the-treatment-of-complicated-wounds-in-cranio-maxillo-facial-surgery
#7
Stefan Hartwig, Saskia Preissner, Jan Oliver Voss, Moritz Hertel, Christian Doll, Richard Waluga, Jan Dirk Raguse
BACKGROUND: Compromised wound healing in cranio-maxillo-facial surgery is a threat to the patient's rehabilitation. Therapy of chronic and/or infected wounds is time- and cost-consuming, burdensome and occasionally futile. Cold atmospheric plasma is a new approach that promises to overcome these limitations. The aim of this proof-of-concept study was to evaluate the clinical outcome of cold plasma irradiation in patients with impaired wound healing who are refractory to conservative wound therapy and/or revision surgery...
October 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28812673/craniofacial-diversification-in-the-domestic-pigeon-and-the-evolution-of-the-avian-skull
#8
Nathan M Young, Marta Linde-Medina, John W Fondon, Benedikt Hallgrímsson, Ralph S Marcucio
A central question in evolutionary developmental biology is how highly conserved developmental systems can generate the remarkable phenotypic diversity observed among distantly related species. In part, this paradox reflects our limited knowledge about the potential for species to both respond to selection and generate novel variation. Consequently, the developmental links between small-scale microevolutionary variations within populations to larger macroevolutionary patterns among species remain unbridged...
March 13, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28702799/greater-occipital-nerve-infiltration-under-mr-guidance-feasibility-study-and-preliminary-results
#9
Adrian Kastler, Romain Perolat, Bruno Kastler, Caroline Maindet-Dominici, Jan Fritz, Alim Louis Benabid, Stephan Chabardes, Alexandre Krainik
OBJECTIVE: To assess the feasibility of greater occipital nerve (GON) intermediate site infiltration with MRI guidance. METHODS: Eleven consecutive patients suffering from chronic refractory cranio-facial pain who underwent 16 GON infiltrations were included in this prospective study. All of the procedures were performed on an outpatient basis in the research facility of our institution, with a 1.5 T scanner. The fatty space between inferior obliquus and semispinalis muscles at C1-C2 level was defined as the target...
July 12, 2017: European Radiology
https://www.readbyqxmd.com/read/28689341/painful-spasms-in-facial-masticatory-and-motor-ocular-muscles-reversed-after-microvascular-decompression-of-a-neurovascular-conflict-at-brainstem
#10
Tania-Mihaela Idriceanu, Marc Sindou
The authors present a case of a 42-year-old female admitted for disabling complex and atypical bilateral facial spasms associated with painful masticatory and motor ocular dystonic movements, difficult to fit in the definition of any known cranio-facial dyskinesias. MRI showed a left PICA loop invaginated into the brainstem, considered responsible of an hyperactive disorder of the brainstem nuclei neighboring the conflict. After microvascular decompression, the patient made a full recovery with complete disappearance of the paroxystic phenomena...
July 8, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28562183/extracellular-matrices-for-bone-regeneration-a-literature-review
#11
Alaa Mansour, Mohamed Amine Mezour, Zahi Badran, Faleh Tamimi
The gold standard material for bone regeneration is still autologous bone, a mesenchymal tissue that consists mainly of extracellular matrix (ECM) (90% v/v) and little cellular content (10% v/v). However, the fact that decellularized allogenic bone grafts often present a clinical performance comparable to autologous bone grafts demonstrates the crucial role of ECM in bone regeneration. For long, the mechanism by which bone allografts function was not clear, but recent research has unveiled many unique characteristics of ECM that seem to play a key role in tissue regeneration...
July 12, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28555453/-a-phenotypic-description-of-26-patients-with-ritscher-schinzel-syndrome-cranio-cerebello-cardiac-dysplasia-or-3c-syndrome
#12
S M Pira-Paredes, J H Montoya-Villada, J L Franco-Restrepo, M Moncada-Velez, J W Cornejo
INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. RESULTS: Males account for 69% of this cohort...
June 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28527082/usefulness-of-an-occlusal-device-in-the-treatment-of-medication-overuse-headache-and-persistent-idiopathic-facial-pain-preliminary-results
#13
H A Didier, M Curone, V Tullo, A H Didier, R Cornalba, A B Giannì, G Bussone
There is a debate in literature about the therapeutic usefulness of oral devices in patients suffering from Medication Overuse Headache (MOH) or in patients suffering from Persistent Idiopathic Facial Pain (PIFP). From the case histories of 3356 patients, referred to us with a diagnosis of chronic craniofacial pain for assessment of the eventual application of an occlusal device to correct an impaired neuromuscular relationship between the mandible and the maxilla, we selected, following the criteria of the International Classification of Headache Disorders (ICHD-3beta), two groups of patients suffering from MOH and PIFP...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#14
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28513615/exome-sequencing-of-two-italian-pedigrees-with-non-isolated-chiari-malformation-type-i-reveals-candidate-genes-for-cranio-facial-development
#15
Elisa Merello, Lorenzo Tattini, Alberto Magi, Andrea Accogli, Gianluca Piatelli, Marco Pavanello, Domenico Tortora, Armando Cama, Zoha Kibar, Valeria Capra, Patrizia De Marco
Chiari malformation type I (CMI) is a congenital abnormality of the cranio-cerebral junction with an estimated incidence of 1 in 1280. CMI is characterized by underdevelopment of the occipital bone and posterior fossa (PF) and consequent cerebellar tonsil herniation. The presence for a genetic basis to CMI is supported by many lines of evidence. The cellular and molecular mechanisms leading to CM1 are poorly understood. The occipital bone formation is dependent on complex interactions between genes and molecules with pathologies resulting from disruption of this delicate process...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28486090/self-citation-rate-and-impact-factor-in-the-field-of-plastic-and-reconstructive-surgery
#16
Shimpei Miyamoto
BACKGROUND: Journal ranking based on the impact factor (IF) can be distorted by self-citation. The aim of this study is to investigate the present status of self-citation in the plastic surgery journals and its effect on the journals' IFs. METHODS: IF, IF without self-citations (corrected IF), self-cited rate, and self-citing rate for 11 plastic surgery journals were investigated from 2009-2015, by reviewing the Journal Citation Report(®). The correlations of the IF with the self-cited rate and the self-citing rate were statistically assessed...
May 9, 2017: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/28457918/skeletal-and-dento-alveolar-norms-conventional-and-based-on-true-vertical-in-a-lebanese-population
#17
Emilie El Hayeck, Nayla Bassil-Nassif, Carole Mouhanna-Fattal, Joseph Bouserhal
OBJECTIVE: The aims of this study were to determine the cephalometric norms in a Lebanese population of young adults, to find the differences in cranio-facial morphology between males and females and to establish the equivalency between conventional measurements and those based on the true horizontal. MATERIALS AND METHOD: Ninety subjects divided into 43 women and 47 men, aged from 18 to 30years, were selected based on specific criteria. The lateral cephalograms were taken in the natural head position...
April 27, 2017: International Orthodontics
https://www.readbyqxmd.com/read/28367969/the-human-cranio-facial-development-protein-1-cfdp1-gene-encodes-a-protein-required-for-the-maintenance-of-higher-order-chromatin-organization
#18
Giovanni Messina, Maria Teresa Atterrato, Yuri Prozzillo, Lucia Piacentini, Ana Losada, Patrizio Dimitri
The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family. Craniofacial malformations are developmental disorders of particular biomedical and clinical interest, because they represent the main cause of infant mortality and disability in humans, thus it is important to understand the cellular functions and mechanism of action of the CFDP1 protein. We have carried out a multi-disciplinary study, combining cell biology, reverse genetics and biochemistry, to provide the first in vivo characterization of CFDP1 protein functions in human cells...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28330577/-custom-made-implant-for-complex-facial-reconstruction-a-case-of-total-replacement-of-temporo-mandibular-joint-zygomatic-arch-and-malar-bone
#19
D Guillier, V Moris, L-A See, M Girodon, B-L Wajszczak, N Zwetyenga
INTRODUCTION: Total prosthetic replacement of the temporo-mandibular joint (TMJ) has become a common procedure, but it is usually limited to the TMJ itself. We report about one case of complex prosthetic joint reconstruction extending to the neighbouring bony structures. CASE: A 57-year-old patient, operated several times for a cranio-facial fibrous dysplasia, presented with a recurring TMJ ankylosis and a complexe latero-facial bone loss on the right side. We performed a reconstruction procedure including the TMJ, the zygomatic arch and the malar bone by mean of custom made composite prosthesis (chrome-cobalt-molybdenum-titanium and polyethylene)...
February 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28142354/the-use-of-three-dimensional-printing-technology-in-orthopaedic-surgery
#20
Tak Man Wong, Jimmy Jin, Tak Wing Lau, Christian Fang, Chun Hoi Yan, Kelvin Yeung, Michael To, Frankie Leung
Three-dimensional (3-D) printing or additive manufacturing, an advanced technology that 3-D physical models are created, has been wildly applied in medical industries, including cardiothoracic surgery, cranio-maxillo-facial surgery and orthopaedic surgery. The physical models made by 3-D printing technology give surgeons a realistic impression of complex structures, allowing surgical planning and simulation before operations. In orthopaedic surgery, this technique is mainly applied in surgical planning especially revision and reconstructive surgeries, making patient-specific instruments or implants, and bone tissue engineering...
January 2017: Journal of Orthopaedic Surgery
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