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craniofacial malformation

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https://www.readbyqxmd.com/read/29661661/three-dimensional-study-of-31-cases-of-synostotic-anterior-plagiocephaly-before-and-after-surgical-management-the-lille-protocol
#1
Ambre Simon, Emmanuelle Bocquet, Philippe Pellerin, Matthieu Vinchon, Patrick Dhellemmes, Véronique Martinot, Alexis Wolber, Clotilde Calibre, Philippe Charlier, Pierre Guerreschi
Synostotic anterior plagiocephaly is a rare pathological cranial malformation. Therapeutic options are rarely studied due to the rarity of the malformation and difficulties in diagnosis and care management. The objective of this study was to analyze the results obtained with the Lille protocol based on 62 CT-scans done before and after surgery in 31 patients. A specific analysis was designed for this work. Nine cephalometric measures enabled to evidence on each CT-Scan the corrections made on the fronto-orbital bandeau and the potential impact of surgery on the craniofacial structures...
March 28, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29658509/-experimental-approaches-to-the-investigation-of-behavioral-disorders-associated-with-prenatal-alcohol-exposure
#2
E V Razumkina, P K Anokhin, T V Proskuryakova, I Yu Shamakina
Fetal alcohol spectrum disorders (FASD) is an umbrella term which covers a wide range of deficits in prenatal and postnatal growth, anatomy and CNS functions produced by prenatal alcohol exposure. The most severe form of FASD is fetal alcohol syndrome (FAS) characterized by additional specific craniofacial and brain malformations. Despite a high prevalence and extensive clinical studies, the fundamental mechanisms of FASD are still poorly understood. Thereby, experimental models, which allow better control for both socio-environmental and genetic factors, are critical to our understanding of FASD...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29628935/neurodevelopmental-genetic-diseases-associated-with-microdeletions-and-microduplications-of-chromosome-17p13-3
#3
REVIEW
Sara M Blazejewski, Sarah A Bennison, Trevor H Smith, Kazuhito Toyo-Oka
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or lissencephaly, which leads to developmental delay, intellectual disability, and seizures. However, patients with MDS have larger deletions than patients with ILS, resulting in additional symptoms such as poor muscle tone, congenital anomalies, abnormal spasticity, and craniofacial dysmorphisms...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29624144/pilot-study-of-intracranial-venous-physiology-in-craniosynostosis
#4
Martijn J Cornelissen, Robbin de Goederen, Priya Doerga, Iris Cuperus, Marie-Lise van Veelen, Maarten Lequin, Paul Govaert, Irene M J Mathijssen, Jeroen Dudink, Robert C Tasker
OBJECTIVE In addition to craniocerebral disproportion, other factors, such as Chiari malformation type I, obstructive sleep apnea, and venous outflow obstruction, are considered to have a role in the occurrence of intracranial hypertension in craniosynostosis. This pilot study examined cerebral venous flow velocity to better characterize the complex intracranial venous physiology of craniosynostosis. METHODS The authors performed a prospective cohort study of craniosynostosis patients (n = 34) referred to a single national (tertiary) craniofacial unit...
April 6, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29616161/associated-malformations-in-children-with-orofacial-clefts-in-portugal-a-31-year-study
#5
Alice V Pereira, Nuno Fradinho, Sara Carmo, Juliana M de Sousa, David Rasteiro, Regina Duarte, Maria J Leal
Background: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal. Methods: Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied...
February 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29604388/craniofacial-structure-alterations-of-foetuses-from-folic-acid-deficient-pregnant-mice
#6
Estela Maldonado, Yamila López, Manuel Herrera, Elena Martínez-Sanz, Concepción Martínez-Álvarez, Juliana Pérez-Miguelsanz
INTRODUCTION: Craniofacial development in mammals is a complex process that involves a coordinated series of molecular and morphogenetic events. Folic acid (FA) deficiency has historically been associated with congenital spinal cord malformations, but the effect that a maternal diet deficient in FA has on the development of other structures has been poorly explored. In the present study, the objective was to describe and quantify the alterations of craniofacial structures presented in mouse foetuses from dams fed a FA deficient (FAD) diet compared with controls that were given a regular maternal diet...
March 28, 2018: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/29590634/-mek1-y130c-mice-recapitulate-aspects-of-human-cardio-facio-cutaneous-syndrome
#7
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D Yu, Katherine A Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer. Germline mutations in genes encoding members of the RAS/MAPK pathway also cause severe developmental syndromes collectively known as RASopathies. These syndromes share overlapping characteristics, including craniofacial dysmorphology, cardiac malformations, cutaneous abnormalities and developmental delay. Cardio-facio-cutaneous syndrome (CFC) is a rare RASopathy associated with mutations in BRAF , KRAS , MEK1 ( MAP2K1 ) and MEK2 ( MAP2K2 )...
March 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29571046/the-contributions-of-dr-kathleen-k-sulik-to-fetal-alcohol-spectrum-disorders-research-and-prevention
#8
REVIEW
Scott E Parnell, Edward P Riley, Kenneth R Warren, Kathleen T Mitchell, Michael E Charness
Dr. Kathleen Sulik (Kathy) has spent 35 years studying fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD). Beginning with her landmark 1981 Science paper describing the early gestational window when alcohol can cause the craniofacial malformations characteristic of FAS, Kathy has contributed a vast amount of research furthering our knowledge of FASD. After her seminal work that definitively demonstrated that alcohol is the causative factor in FAS, she and her lab went on to explore and define the stage-dependent effects of early gestational alcohol exposure on the face and brain in numerous different ways throughout her career...
March 20, 2018: Alcohol
https://www.readbyqxmd.com/read/29567474/treacher-collins-syndrome-3-tcs3-associated-polr1c-mutants-are-localized-in-the-lysosome-and-inhibits-chondrogenic-differentiation
#9
Naoto Matsumoto, Minami Kaneko, Natsumi Watanabe, Misa Itaoka, Yoich Seki, Takako Morimoto, Tomohiro Torii, Yuki Miyamoto, Keiichi Homma, Junji Yamauchi
Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, and atresia of the external auditory canals. TCS3 is caused by mutations of the polr1c gene, which encodes RNA polymerase I and III subunit C (POLR1C). There have been two known missense mutations (Arg279-to-Gln [R279Q] and Arg279-to-Trp [R279W]) at the Arg-279 position...
March 21, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29562287/narrowing-the-wingless-2-mutation-to-a-227-kb-candidate-region-on-chicken-chromosome-12
#10
A E Webb, I A Youngworth, M Kaya, C L Gitter, E A O'Hare, B May, H H Cheng, M E Delany
Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather malformations. Previously, work focused on phenotype description, establishing the autosomal recessive pattern of Mendelian inheritance and placing the mutation on an inbred genetic background to create the congenic line UCD Wingless-2.331. The research described in this paper employed the complementary tools of breeding, genetics, and genomics to map the chromosomal location of the mutation and successively narrow the size of the region for analysis of the causative element...
March 19, 2018: Poultry Science
https://www.readbyqxmd.com/read/29551253/whole-exome-sequencing-for-monozygotic-twins-discordant-for-hemifacial-microsomia
#11
Xiaojun Chen, Feng Xu, Fatao Liu, Zin Mar Aung, Wei Chen, Wenqing Han, Xianxian Yang, Yan Zhang, Gang Chai, Ruhong Zhang
Hemifacial microsomia (HFM) is the second most common congenital craniofacial malformation. Although many sporadic and familial cases have been studied to explore the etiology and pathogenesis of HFM, no common understanding has been reached. We aimed to further probe into the etiology of HFM through studying monozygotic twins. Here, we report two cases of pairs of monozygotic twins discordant for HFM, and performed whole-exome sequencing (WES) and bioinformatics analysis to help determine the underlying molecular mechanisms...
February 16, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29533534/craniofacial-structures-development-in-prenatal-period-an-mri-study
#12
G Begnoni, G Serrao, F Musto, G Pellegrini, F M Triulzi, C Dellavia
INTRODUCTION: The development of skeletal structures (cranial base, upper and lower) and upper airways spaces (oropharyngeal and nasopharyngeal) of the skull has always been an issue of great interest in orthodontics. Foetal MRI images obtained as screening exam during pregnancy can help to understand the development of these structures using a sample cephalometric analysis. MATERIAL AND METHODS: A total of 28 MRI images in sagittal section of foetuses from 20th to 32th weeks of gestation were obtained to dispel doubts about the presence of skeletal malformations...
March 13, 2018: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/29525683/maternal-dietary-exposure-to-selenium-nanoparticle-led-to-malformation-in-offspring
#13
Mengjuan Shi, Cunli Zhang, Ivan Fan Xia, Siu To Cheung, Kwong Sen Wong, Ka-Hing Wong, Doris W T Au, David E Hinton, Kevin W H Kwok
Selenium (Se) is an essential element and its biological activity is related to its speciation. It is also well-known that in excess it can cause teratogenesis in fish and birds. In this study we compared dietary toxicity of elemental selenium nanoparticles (SeNPs) with selenite and selenomethionine (Se-Met). Japanese medaka (Oryzias latipes) was used as a laboratory model to determine Se effects on adults and their offspring. Adult females were individually exposed using a dry diet fortified with 0, 10 or 20 µg/g of the three Se species for 7 days and then allowed to breed for 3 days...
March 8, 2018: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29513868/findings-of-postoperative-clinical-assessment-of-swallowing-in-infants-with-congenital-heart-defect
#14
Paula Colvara de Souza, Vanessa Souza Gigoski, Camila Lúcia Etges, Lisiane da Rosa Barbosa
PURPOSE: Describe the findings of postoperative clinical evaluation of swallowing in infants with congenital heart disease (CHD) in a reference hospital in southern Brazil. METHODS: This is a cross-sectional study conducted postoperatively with infants with medical diagnosis of CHD aged 0-6 months in a Pediatric Intensive Care Unit. Exclusion criteria comprised infants with neurological and respiratory impairments, craniofacial malformation, structural alteration in the upper airways, and suspicion or diagnosis of genetic syndromes...
March 1, 2018: CoDAS
https://www.readbyqxmd.com/read/29481517/iatrogenic-conchal-defect-secondary-to-auricular-cartilage-graft
#15
Leela S Mundra, Husain T AlQattan, Meghan G Janette, Carissa Patete, Seth R Thaller
BACKGROUND: Cleft lip and palate are the most common craniofacial congenital malformations. Timing of the nasal repair remains somewhat controversial. Some authors perform a combined nasal and lip repair in infancy while others advocate for a staged repair with the nasal component occurring later in childhood. Frequently, secondary repair is needed to address residual nasal deformities in early adulthood. Conchal cartilage has become increasingly popular as a source of cartilage for secondary reconstruction...
February 23, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29475819/helsmoortel-van-der-aa-syndrome-as-emerging-clinical-diagnosis-in-intellectually-disabled-children-with-autistic-traits-and-ocular-involvement
#16
Giulia Pascolini, Emanuele Agolini, Silvia Majore, Antonio Novelli, Paola Grammatico, Maria Cristina Digilio
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype...
February 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29453776/syndromic-sebaceous-nevus-current-findings
#17
Oumama El Ezzi, Anthony S de Buys Roessingh, Michèle Bigorre, Guillaume Captier
BACKGROUND: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. In the adult patient, tumors (usually benign) develop from sebaceous nevus. Their surgical excision during childhood can give a better result in terms of the definitive scar. OBJECTIVES: The aim of this study is to analyze our cases of syndromic sebaceous hamartoma, perform a review of the existing literature, and propose guidelines for the therapeutic plan...
February 16, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29447811/sensorineural-and-conductive-hearing-loss-in-infants-diagnosed-in-the-program-of-universal-newborn-hearing-screening
#18
Katarzyna Wroblewska-Seniuk, Piotr Dabrowski, Grazyna Greczka, Katarzyna Szabatowska, Agata Glowacka, Witold Szyfter, Jan Mazela
OBJECTIVE: The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. MATERIAL AND METHODS: A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. RESULTS: 27 935 infants were covered by the universal neonatal hearing screening program...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29445918/persistent-craniopharyngeal-canal-bilateral-microphthalmia-with-colobomatous-cysts-ectopic-adenohypophysis-with-rathke-cleft-cyst-and-ectopic-neurohypophysis-case-report-and-review-of-the-literature
#19
Nazlı Gülsüm Akyel, Ayşe Gül Alımlı, Tülin Hakan Demirkan, Mesut Sivri
INTRODUCTION: Persistent craniopharyngeal canal (PCC) is a rare anomaly of the base of the skull. PCC is defined as a well-corticated osseous canal, extending from the roof of the nasopharynx to the base of the sella over the course of the sphenoid corpus. We reported a PCC case with unique associations. The magnetic resonance imaging findings are discussed. CASE PRESENTATION: We report a case of a 2-year-old boy with persistent craniopharyngeal canal, bilateral microphtalmia with large colobomatous cyst, and ectopic adenohypophysis with Rathke cleft cyst...
February 14, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29397922/the-effects-of-different-preservation-methods-on-ide-leuciscus-idus-sperm-and-the-longevity-of-sperm-movement
#20
G Bernáth, Zs Csenki, Z Bokor, L Várkonyi, J Molnár, T Szabó, Á Staszny, Á Ferincz, K Szabó, B Urbányi, L O Pap, B Csorbai
The present study investigated the effects of chilled storage and cryopreservation on ide sperm motility and fertilizing capacity alongside the longevity of sperm movement. The parameters of motility (progressive motility-pMOT, curvilinear velocity-VCL and straightness-STR) have been recorded during 48 h of chilled storage (4 °C) at 24-h intervals. The longevity of sperm movement was measured following activation for up to 120 s (in a range at 10-120 s) in freshly stripped and thawed sperm. A formerly established cryopreservation method was tested on ide sperm where motility parameters, hatching rate and larval malformation (according to 7 category groups) were investigated...
January 31, 2018: Cryobiology
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