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Craniosynostosis

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https://www.readbyqxmd.com/read/29771833/proptosis-correction-in-pre-adolescent-patients-with-syndromic-craniosynostosis-by-le-fort-iii-distraction-osteogenesis
#1
Travis L Gibson, Barry H Grayson, Joseph G McCarthy, Pradip R Shetye
Le Fort III distraction osteogenesis may be indicated in the treatment of syndromic craniosynostosis with severe midface retrusion and proptosis. This study assesses the stability of proptosis correction over 10-years.A retrospective review identified 15 patients with syndromic craniosynostosis treated by Le Fort III distraction prior to age 10 (9 males, 6 females; age 4.9 ± 1.5 years). Untreated, non-craniosynostotic age- and gender-matched controls were obtained from historical growth records. Lateral cephalometric tracings at pre-surgery (T1), immediate (T2), 1 year (T3), 5 years (T4), and 10 years (T5) (n = 11) post-distraction were superimposed using the best-fit of cranial base...
May 15, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29762328/treatment-of-craniosynostosis-the-impact-of-hospital-surgical-volume-on-cost-resource-utilization-and-outcomes
#2
Anmol Chattha, Alexandra Bucknor, Daniel A Curiel, Klaas H J Ultee, Salim Afshar, Samuel J Lin
The authors aim to quantify the impact of hospital volume of craniosynostosis surgery on inpatient complications and resource utilization using national data. Children <12 months with nonsyndromic craniosynostosis who underwent surgery in 2012 at academic hospitals in the United States were identified from the Kids' Inpatient Database (KID) developed by the Healthcare Cost and Utilization Project (HCUP). Hospital craniosynostosis surgery volume was stratified into tertiles based on total annual hospital cases: low volume (LV, 1-13), intermediate volume (IV, 14-34), and high volume (HV, ≥35)...
May 14, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29753329/a-37-year-old-nigerian-woman-with-apert-syndrome-medical-and-psychosocial-perspectives-a-case-report
#3
M A Kana, T S Baduku, H Bello-Manga, A S Baduku
BACKGROUND: Apert syndrome is a rare genetic disease that presents a diagnostic dilemma because of its similarity with other craniosynostosis syndromes. Currently, there is paucity of reports about adult patients in African medical literature. Therefore, this case report highlights medical and psychosocial problems associated with the disease in an adult woman who is resident in a resource-constrained setting. CASE PRESENTATION: Our patient is a 37-year-old African woman...
May 13, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29752281/increased-fgf8-signaling-promotes-chondrogenic-rather-than-osteogenic-development-in-the-embryonic-skull
#4
Linnea Schmidt, Aftab Taiyab, Vida Senkus Melvin, Kenneth L Jones, Trevor Williams
The bones of the cranial vault are formed directly from mesenchymal cells through intramembranous ossification rather than via a cartilage intermediate. Formation and growth of the skull bones involves the interaction of multiple cell:cell signaling pathways, with Fibroblast Growth Factors (FGFs) and their receptors exerting prominent influence. Mutations within this pathway are the most frequent cause of craniosynostosis, which is a common human craniofacial developmental abnormality characterized by the premature fusion of the cranial sutures...
May 10, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29742364/surgical-correction-of-metopic-craniosynostosis-a-3-d-photogrammetric-analysis-of-cranial-vault-outcomes
#5
Olivia E Linden, Vanessa M Baratta, Jose A Gonzalez, Margaret E Byrne, Petra M Klinge, Stephen R Sullivan, Helena O Taylor
OBJECTIVE: To evaluate 3-dimensional (3-D) photogrammetry as a tool for assessing the postoperative head shape of patients who had undergone cranial vault remodeling for metopic synostosis. DESIGN: We prospectively analyzed images of patients with metopic craniosynostosis who had undergone anterior cranial vault remodeling and age-matched controls. To ensure standardized facial orientation, each 3-D image was positioned to "best fit" the preoperative face by aligning 6 soft tissue landmarks...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29728184/an-audiological-evaluation-of-syndromic-and-non-syndromic-craniosynostosis-in-pre-school-going-children
#6
Liang Chye Goh, Ali Azman, Hufaidah Binti Konting Siti, Wee Vien Khoo, Premala A/P Muthukumarasamy, Meow Keong Thong, Zulkiflee Abu Bakar, Anura Michelle Manuel
OBJECTIVE: To study the audiological outcome and early screening of pre-school going children with craniosynostosis under follow-up at the University of Malaya Medical Center(UMMC), Kuala Lumpur, Malaysia over a 10 year period. METHODS: A retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29707444/applications-of-computer-technology-in-complex-craniofacial-reconstruction
#7
Kristopher M Day, Kyle S Gabrick, Larry A Sargent
Background: To demonstrate our use of advanced 3-dimensional (3D) computer technology in the analysis, virtual surgical planning (VSP), 3D modeling (3DM), and treatment of complex congenital and acquired craniofacial deformities. Methods: We present a series of craniofacial defects treated at a tertiary craniofacial referral center utilizing state-of-the-art 3D computer technology. All patients treated at our center using computer-assisted VSP, prefabricated custom-designed 3DMs, and/or 3D printed custom implants (3DPCI) in the reconstruction of craniofacial defects were included in this analysis...
March 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29695736/overactive-autophagy-is-a-pathological-mechanism-underlying-premature-suture-ossification-in-nonsyndromic-craniosynostosis
#8
Shanshan Qiu, Jing Wang, Siqi Huang, Shouqing Sun, Zhen Zhang, Nan Bao
Nonsyndromic craniosynostosis (NSC) is the most common craniosynostosis with the primary defect being one or more fused sutures. In contrast to syndromic craniosynostosis, the etiopathogenesis of NSC is largely unknown. Here we show that autophagy, a major catabolic process required for the maintenance of bone homeostasis and bone growth, is a pathological change associated with NSC. Using calvarial suture mesenchymal cells (SMCs) isolated from the fused and unfused sutures of NSC patients, we demonstrate that during SMC differentiation, the level of the autophagosomal marker LC3-II increases as osteogenic differentiation progresses, particularly at differentiation day 7, a stage concurrent with mineralization...
April 25, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29688857/less-invasive-treatment-of-sleep-disordered-breathing-in-children-with-syndromic-craniosynostosis
#9
Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert, Christian F Poets
BACKGROUND: Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS), potentially leading to tracheostomy. We modified the Tübingen Palatal Plate (TPP), an oral appliance with a velar extension effectively treating airway obstruction in Robin sequence, by attaching a tube to its velar extension to bridge the narrow pharyngeal airway in SCS patients...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29680416/electrocardiographic-variables-in-children-with-syndromic-craniosynostosis-and-primary-snoring-to-mild-obstructive-sleep-apnea-significance-of-identifying-respiratory-arrhythmia-during-sleep
#10
Ellaha Kakar, Linda J A Corel, Robert C Tasker, Robbin de Goederen, Eppo B Wolvius, Irene M J Mathijssen, Koen F M Joosten
BACKGROUND: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals - such as those with upper airway resistance syndrome (UARS) - do not have abnormalities on polysomnography (PSG). In this study we have assessed whether assessment of respiratory arrhythmia (RA) and heart rate variability (HRV) analysis helps in management of children with syndromic craniosynostosis and none-to-mild obstructive sleep apnea (OSA). METHODS: Prospective cohort study in children aged 1-18 years old with syndromic craniosynostosis...
May 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29679032/comparison-of-an-unsupervised-machine-learning-algorithm-and-surgeon-diagnosis-in-the-clinical-differentiation-of-metopic-craniosynostosis-and-benign-metopic-ridge
#11
Min-Jeong Cho, Rami R Hallac, Maleeh Effendi, James R Seaward, Alex A Kane
Metopic suture closure can manifest as a benign metopic ridge (BMR), a variant of normal, to "true" metopic craniosynostosis (MCS), which is associated with severe trigonocephaly. Currently, there is no gold standard for how much associated orbitofrontal dysmorphology should trigger surgical intervention. In our study, we used three-dimensional (3D) curvature analysis to separate the phenotypes along the spectrum, and to compare surgeons' thresholds for operation. Three-dimensional curvature analyses on 43 subject patients revealed that the mean curvature of mid-forehead vertical ridge was higher for patients who underwent operation than those who did not undergo operation by 1...
April 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29675757/fetal-methotrexate-syndrome-and-antley-bixler-syndrome-should-not-be-confused
#12
REVIEW
C Richards, Christine M Hall, D Johnson, Amaka C Offiah
Exposure to methotrexate in utero can result in fetal methotrexate syndrome - a condition characterised by prenatal-onset growth retardation, craniosynostosis, dysmorphic facies and multiple limb abnormalities. A literature review was prompted by the findings in a girl who is presented here with full consent from her guardian. She is the third child of unrelated parents and was 4 years old at the time of this report. Her mother took 15 mg methotrexate on two occasions during early pregnancy for juvenile idiopathic arthritis, unaware that she was pregnant...
April 19, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29674126/bbs9-gene-in-nonsyndromic-craniosynostosis-role-of-the-primary-cilium-in-the-aberrant-ossification-of-the-suture-osteogenic-niche
#13
Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon Antonov Boyadjiev, Wanda Lattanzi
Nonsyndromic craniosynostosis (NCS) is the premature ossification of skull sutures, without associated clinical features. Mutations in several genes account for a small number of NCS patients; thus, the molecular etiopathogenesis of NCS remains largely unclear. Our study aimed at characterizing the molecular signaling implicated in the aberrant ossification of sutures in NCS patients. Comparative gene expression profiling of NCS patient sutures identified a fused suture-specific signature, including 17 genes involved in primary cilium signaling and assembly...
April 16, 2018: Bone
https://www.readbyqxmd.com/read/29668474/craniosynostosis-acrocephalosyndactyly-apert-syndrome-diagnosed-in-a-newborn
#14
Orhideja Stomnaroska, Dragan Danilovski, Sanja Ivanovska
We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29666339/phenotypic-characterization-of-derivative-22-syndrome-case-series-and-review
#15
Deepti Saxena, Priyanka Srivastava, Moni Tuteja, Kausik Mandal, Shubha R Phadke
Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males. In 99% of the cases, one of the parents is a carrier of balanced translocation between chromosomes 11 and 22. It occurs due to malsegregation of the gametes with 3:1 segregation. In this case series, we describe four patients with diverse manifestations of this condition...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29665811/recombinant-mouse-periostin-ameliorates-coronal-sutures-fusion-in-twist1-mice
#16
Shanshan Bai, Dong Li, Liang Xu, Huichuan Duan, Jie Yuan, Min Wei
BACKGROUND: Saethre-Chotzen syndrome is an autosomal dominantly inherited disorder caused by mutations in the twist family basic helix-loop-helix transcription factor 1 (TWIST1) gene. Surgical procedures are frequently required to reduce morphological and functional defects in patients with Saethre-Chotzen syndrome. Therefore, the development of noninvasive procedures to treat Saethre-Chotzen syndrome is critical. We identified that periostin, which is an extracellular matrix protein that plays an important role in both bone and connective tissues, is downregulated in craniosynostosis patients...
April 17, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29665342/age-at-time-of-craniosynostosis-repair-predicts-increased-complication-rate
#17
William J Bruce, Victor Chang, Cara J Joyce, Adrienne N Cobb, Uma I Maduekwe, Parit A Patel
OBJECTIVE: This study uses administrative data to assess the optimal timing for surgical repair of craniosynostosis and to identify factors associated with risk of perioperative complications. DESIGN: Statistical analysis of the Healthcare Cost and Utilization Project Kids' Inpatient Database (2006, 2009, 2012). SETTING: KID-participating hospitals in 44 states. PATIENTS: Children 0 to 3 years of age with ICD-9 codes for surgical correction of craniosynostosis (756 and 0124, 0125, 0201, 0203, 0204, or 0206)...
May 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29663378/tyrosine-kinase-receptor-c-ros-oncogene-1-inhibition-alleviates-aberrant-bone-formation-of-twist-1-haploinsufficient-calvarial-cells-from-saethre-chotzen-syndrome-patients
#18
Esther Camp, Peter J Anderson, Andrew C W Zannettino, Carlotta A Glackin, Stan Gronthos
Saethre-Chotzen syndrome (SCS), associated with TWIST-1 mutations, is characterized by premature fusion of cranial sutures. TWIST-1 haploinsufficiency, leads to alterations in suture mesenchyme cellular gene expression patterns, resulting in aberrant osteogenesis and craniosynostosis. We analyzed the expression of the TWIST-1 target, Tyrosine kinase receptor c-ros-oncogene 1 (C-ROS-1) in TWIST-1 haploinsufficient calvarial cells derived from SCS patients and calvaria of Twist-1del/+ mutant mice and found it to be highly expressed when compared to TWIST-1 wild-type controls...
April 16, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29661509/distraction-osteogenesis-in-the-surgical-management-of-syndromic-craniosynostosis-a-comprehensive-review-of-published-papers
#19
REVIEW
N M N Al-Namnam, F Hariri, Z A A Rahman
Our aim was to summarise current published evidence about the prognosis of various techniques of craniofacial distraction osteogenesis, particularly its indications, protocols, and complications. Published papers were acquired from online sources using the keywords "distraction osteogenesis", "Le Fort III", "monobloc", and "syndromic craniosynostosis" in combination with other keywords, such as "craniofacial deformity" and "midface". The search was confined to publications in English, and we followed the guidelines of the PRISMA statement...
April 13, 2018: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/29653011/-advance-in-clinical-research-on-antley-bixler-syndrome
#20
Min Xie, Hongying Wang, Linqi Chen, Haibo Li, Hong Li
Antley-Bixler syndrome (ABS) is a rare childhood disorder affecting skeletal development. Some patients may also have genital anomalies and impaired steroidogenesis. Diagnostic criteria for ABS has not been fully established, though craniosynostosis, midface hypoplasia and elbow synostosis are minimum requirements. The etiology of ABS is complex, which included autosomal dominant form caused by FGFR2 gene mutations, autosomal recessive form caused by POR gene mutations, and high oral dose of fluconazole during pregnancy...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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