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https://www.readbyqxmd.com/read/28620006/cancer-surveillance-in-gorlin-syndrome-and-rhabdoid-tumor-predisposition-syndrome
#1
REVIEW
William D Foulkes, Junne Kamihara, D Gareth R Evans, Laurence Brugières, Franck Bourdeaut, Jan J Molenaar, Michael F Walsh, Garrett M Brodeur, Lisa Diller
Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU)SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28615110/an-accident-at-work-traumatic-lesions-in-the-skeleton-of-a-4th-millennium-bce-wagon-driver-from-sharakhalsun-russia
#2
K Tucker, N Berezina, S Reinhold, A Kalmykov, A Belinskiy, J Gresky
The study of ante-mortem trauma is a popular and important aspect of palaeopathological analysis. The majority of publications focus on a particular assemblage, skeletal element or type of fracture, with case studies of single individuals with multiple/unusual traumata being much rarer in the literature. This paper presents the case of an adult male from the Bronze Age site of Sharakhalsun, Russia, buried, uniquely, in a sitting position on a fully assembled wagon, who displayed evidence for multiple healed ante-mortem fractures of the cranium, axial and appendicular skeleton...
June 1, 2017: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/28585065/the-right-vertebral-artery-originating-from-the-right-occipital-artery-and-the-absence-of-the-transverse-foramen-a-rare-anatomical-variation
#3
Zülal Öner, Serkan Öner, Ayşegül Sağır Kahraman
Variations in the origin of the vertebral artery (VA) is a congenital anomaly that occurs during embryological development. Multiple variations related to VA origin have been reported in the literature. Abnormal VA origin is usually determined as incidental findings during angiographic or postmortem anatomical studies. Although most of the cases are asymptomatic, in patients with VA anomaly symptoms such as dizziness have been described. The anomalous variation in the origin of the right VA is rare and separated into three categories: (1) originating from the aorta, (2) originating from the carotid arteries, (3) duplicated origin...
June 5, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28577333/mri-based-assessment-of-acute-effect-of-head-down-tilt-position-on-intracranial-hemodynamics-and-hydrodynamics
#4
Shota Ishida, Tosiaki Miyati, Naoki Ohno, Shinnosuke Hiratsuka, Noam Alperin, Mitsuhito Mase, Toshifumi Gabata
PURPOSE: To quantify the acute effect of the head-down tilt (HDT) posture on intracranial hemodynamics and hydrodynamics. MATERIALS AND METHODS: We evaluated the intracranial physiological parameters, blood flow-related parameters, and brain morphology in the HDT (-6° and -12°) and the horizontal supine (HS) positions. Seven and 15 healthy subjects were scanned for each position using 3.0 T magnetic resonance imaging system. The peak-to-peak intracranial volume change, the peak-to-peak cerebrospinal fluid (CSF) pressure gradient (PGp-p ), and the intracranial compliance index were calculated from the blood and CSF flow determined using a cine phase-contrast technique...
June 3, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28576559/the-neuroprotective-effect-of-melatonin-on-the-hippocampus-exposed-to-diclofenac-sodium-during-the-prenatal-period
#5
Kıymet Kübra Yurt, Süleyman Kaplan, Elfide Gizem Kıvrak
Melatonin (Mel) has strong antioxidant properties since it is a direct scavenger of oxygen-based free radicals and related species. The main aim of this study is to show whether the effects of Mel can prevent the potential adverse effects of diclofenac sodium (DS), used as a non-steroidal anti-inflammatory drug (NSAID) during the prenatal period, on the newborn experimental rat brain tissues using stereological methods Twenty-four male 12-week old Wistar albino rats were used. The study involved four groups (each containing six rats), those exposed, during the prenatal period, to saline 1ml/kg (Saline group), to diclofenac sodium 3...
May 30, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28565782/hybrid-composites-of-mesenchymal-stem-cell-sheets-hydroxyapatite-and-platelet-rich-fibrin-granules-for-bone-regeneration-in-a-rabbit-calvarial-critical-size-defect-model
#6
Xi Wang, Guanghui Li, Jia Guo, Lei Yang, Yiming Liu, Qiang Sun, Rui Li, Weiwei Yu
The reconstruction of large bone defects remains a major clinical challenge, and tissue engineering is a promising technique for resolving this problem. Many attempts have been made to optimize bone tissue engineering protocols. The aim of the present study was to develop a process incorporating mesenchymal stem cell (MSC) sheets with nanoscale hydroxyapatite (nano-HA) and autologous platelet-rich fibrin (PRF) granules for enhanced bone formation within a critical-sized rabbit cranial defect. MSC sheets and PRF were prepared prior to in vivo experiments...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28562736/bariatric-surgery-as-a-treatment-for-pseudotumor-cerebri-case-study-and-narrative-review-of-the-literature
#7
Everton Cazzo, Martinho Antonio Gestic, Murillo Pimentel Utrini, Felipe David Mendonça Chaim, Fábio Henrique Mendonça Chaim, Elaine Cristina Cândido, Luciana Bueno da Silveira Jarolavsky, Ana Maria Neder de Almeida, José Carlos Pareja, Elinton Adami Chaim
CONTEXT: Pseudotumor cerebri occurs when there is an increase in intracranial pressure without an underlying cause, usually leading to loss of vision. It is most commonly observed in obese women of child-bearing age. CASE REPORT: A 46-year-old woman presented at our service with idiopathic intracranial hypertension that had been diagnosed two years earlier, which had led to chronic refractory headache and an estimated 30% loss of visual acuity, associated with bilateral papilledema...
May 29, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28553380/giant-occipital-meningoencephalocele-in-a-neonate-a-therapeutic-challenge
#8
Vikul Kumar, S Bhaikhel Kulwant, Suman Saurabh, S Chauhan Richa
Encephalocele is a rare lesion, being an embryological mesodermal anomaly which results in a defect in the cranium and dura, associated with herniation of meninges, cerebrospinal fluid, or brain tissues through a defect usually covered by scalp. Surgical management of children with giant occipital encephalocele requires careful attention to pediatric anesthetic and surgical principles. We present a case of a giant occipital encephalocele highlighting the problems encountered in its management.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28551908/-involvement-of-epigenetic-regulation-in-cerebral-cell-death-following-traumatic-brain-injury-in-a-rat-model
#9
Mona Shehadeh, Moti Ben-Shabat, Jana Livshits, Eilam Palzur
INTRODUCTION: Traumatic brain injuries (TBI) are a major cause of mortality and disability among young adults. TBI are characterized by primary injury, the result of a mechanical impact to the cranium and a secondary injury, a series of molecular mechanism processes developing thereafter. Cerebral cells modify their gene and protein expression as a result of the injury. Epigenetic modifications have a key role as regulators of gene transcription and may simultaneously be involved in the regulation of the molecular pathways following TBI...
May 2017: Harefuah
https://www.readbyqxmd.com/read/28547887/quantifying-sexual-dimorphism-in-the-human-cranium-a-preliminary-analysis-of-a-novel-method
#10
Ana M Casado
In forensic anthropology, sexually dimorphic cranial features are traditionally visually assessed and scored using an ordinal scale, which is highly subjective. This study quantifies six cranial features using original three-dimensional coordinate measurements to provide greater accuracy in sex estimation. Cranial features include supraorbital ridges, glabella, external occipital protuberance, nuchal protuberances, mastoid processes, and frontal bosses. Measurements were taken using coordinate calipers from 158 White and Black male and female crania from the Maxwell Documented Collection at University of New Mexico and Tennessee's Bass Collection...
May 26, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28543029/temporal-trends-in-craniometric-estimates-of-admixture-for-a-modern-american-sample
#11
Bridget F B Algee-Hewitt
OBJECTIVES: Temporal trends in craniometric estimates of admixture are investigated for three U.S. populations in the FDB. Patterns of association between birth years and posterior probabilities of cluster membership are identified to assess how these proportions of admixture have changed over recent time. Demographic and genetic data correlates, patterns of morphological expression, and shifts in source populations are evaluated. MATERIALS AND METHODS: Estimates of three-way admixture were obtained for 1,521 individuals of documented population, sex, and birth years that span the 20th century...
May 24, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28526292/australopithecus-sediba-and-the-emergence-of-homo-questionable-evidence-from-the-cranium-of-the-juvenile-holotype-mh-1
#12
William H Kimbel, Yoel Rak
Malapa Hominin (MH) 1, an immature individual whose second permanent molars had recently reached occlusion at the time of death, is the holotype of Australopithecus sediba, a 2-myr-old South African taxon that has been hypothesized to link phylogenetically australopith-grade hominins to the Homo clade. Given the existence of 2.8 myr-old fossils of Homo in eastern Africa, this hypothesis implies a ghost lineage spanning at least 800 kyr. An alternative hypothesis posits a unique relationship between A. sediba and Australopithecus africanus, which predates the Malapa hominins in southern Africa and whose phylogenetic relationships remain ambiguous...
June 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28522784/penetrating-trauma-of-the-face-and-facial-skeleton-a-case-series-of-six-patients
#13
Aneta Neskoromna-Jędrzejczak, Katarzyna Bogusiak, Aleksander Przygoński, Bogusław Antoszewski
Penetrating traumas of the facial skeleton are relatively rare; however, they can be dangerous and even life-threatening. The epidemiology of facial skeleton trauma is diverse and depends on the affected region, age, and the kind of foreign body that caused the injury. In Poland, the most common cause of penetrating traumas are accidents and assaults, and only rarely accidents are related to improper use of firecrackers or fireworks. The aim of this study is to present a literature review and our own experience with penetrating traumas of the face and the facial part of the cranium...
February 28, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/28522383/cranium-bifidum-occultum-associated-with-hypertelorism-treated-with-posterior-vault-reconstruction-and-orbital-box-osteotomies-case-report-and-technical-note
#14
Rimal H Dossani, David M Yates, Piyush Kalakoti, Anil Nanda, Christina Notarianni, Jennifer Woerner, Ghali E Ghali
Cranium bifidum occultum is a disorder of skull ossification presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone near the intersection of the sagittal and lambdoid sutures. The standard treatment for cranium bifidum occultum is observation. We present a case of a 5-year-old boy who presented with a 15x4.5 cm midline posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose. The patient underwent posterior vault reconstruction for correction of cranium bifidum occultum defect followed by bifrontal craniotomy and orbital box osteotomies for correction of orbital hypertelorism and nasal deformity...
May 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28521911/developmental-instability-and-its-relationship-to-mental-health-in-two-historic-dutch-populations
#15
Alieske Christiene Hagg, Alie Emily Van der Merwe, Maryna Steyn
This study aimed to assess the magnitude and patterns of fluctuating asymmetry as an indicator of developmental instability between two urban archeological Dutch populations. The sample comprised of 209 adult individuals representing the general population of Alkmaar, the Netherlands, dating to the 18th to early 19th century (Grote Kerk, n=134), and a psychiatric hospital sample of the 19th to early 20th century (Meerenberg, n=75). Fluctuating asymmetry was assessed from left and right measurements recorded from various traits on the cranium, mandible, and dentition...
June 2017: International Journal of Paleopathology
https://www.readbyqxmd.com/read/28512319/what-the-skull-and-scapular-morphology-of-the-dugong-dugong-dugon-can-tell-us-sex-habitat-and-body-length
#16
Korakot Nganvongpanit, Kittisak Buddhachat, Patcharaporn Kaewmong, Phaothep Cherdsukjai, Kongkiat Kittiwatanawong
The dugong (Dugong dugon, Müller) is an endangered marine mammal species. We examined the relationship between sex, habitat and body length based on the skull and scapular morphology and morphometrics of 81 dugong samples in Thailand. A total of 58 parameters from the skull and scapula (25 from the cranium, 23 from the mandible and 10 from the scapula) as well as tusks were used in this study. Data were analyzed by univariate analysis, followed by discriminant analysis and multivariate linear regression. Here we show, 100% and 98...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28504848/association-of-traumatic-head%C3%A2-injuries-and-maxillofacial-fractures-a-retrospective-study
#17
Maher M Abosadegh, Shaifulizan Ab Rahman, Norkhafizah Saddki
The association of traumatic head injury (THI) with maxillofacial fractures (MFF) is a major health concern worldwide. In spite of the close anatomical proximity of maxillofacial bones to the cranium, the association of THI with MFF is controversial. The aim of this study was to assess the association between traumatic head injuries (THI) and maxillofacial fractures (MFF). Other factors associated with THI in patients with MFF were also investigated MATERIALS AND METHODS: A hospital-based retrospective study was conducted at the OMFS Unit, Hospital USM, Kelantan, Malaysia...
May 15, 2017: Dental Traumatology: Official Publication of International Association for Dental Traumatology
https://www.readbyqxmd.com/read/28502686/customized-polymethylmethacrylate-cranioplasty-implants-using-3d-printed-polylactic-acid-molds-technical-note-with-2-illustrative-cases
#18
Joe Abdel Hay, Tarek Smayra, Ronald Moussa
OBJECTIVE: Prefabricated customized cranioplasty implants are anatomically more accurate than manually shaped acrylic implants but remain costly. The authors describe a new cost-effective technique of producing customized polymethylmethacrylate (PMMA) cranioplasty implants using prefabricated 3D printed molds. METHODS: The first patient had a left frontal cranial defect following a craniotomy for a glial tumor. A 3D image of his skull was obtained from axial 0.6mm computed tomography (CT) scan images...
May 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28499903/utilization-of-paine-s-technique-projecting-puncture-point-to-the-skull-and-skin
#19
Hiroaki Matsuzaki, Tadahiro Otsuka, Ken Uekawa, Takashi Nakagawa, Nobuyuki Tsubota
OBJECTIVE: Ventriculostomy from Paine's point is an effective technique to obtain a slack brain for aneurysm surgery. This study aimed to use Paine's point for other neurosurgical procedures (except for those that require pterional approach) by delineation of surface landmarks for identification of Paine's point on the cranium and scalp. METHODS: Based on the anatomical knowledge and examination of 3D CT images of skull, we determined novel surface landmarks to identify Paine's point on cranium and scalp...
May 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28496387/frontal-sinus-fractures
#20
REVIEW
Kelly Schultz, Tara L Braun, Tuan A Truong
The frontal bone serves a protective role, representing the transition between the facial skeleton and the cranium. Within its enclosure, the frontal sinus lies adjacent to many important intracranial structures, and injury to this region has severe complications if not properly managed. Historically, the goals of frontal sinus fracture management have been to best prevent intracranial complications with invasive procedures, but a recent shift favoring conservative management now aims to preserve the form and function of the frontal sinus and its outflow tract...
May 2017: Seminars in Plastic Surgery
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