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Yuval B Simons, Kevin Bullaughey, Richard R Hudson, Guy Sella
Human genome-wide association studies (GWASs) are revealing the genetic architecture of anthropomorphic and biomedical traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpret these findings, we need to understand how genetic architecture is shaped by basic population genetics processes-notably, by mutation, natural selection, and genetic drift. Because many quantitative traits are subject to stabilizing selection and because genetic variation that affects one trait often affects many others, we model the genetic architecture of a focal trait that arises under stabilizing selection in a multidimensional trait space...
March 16, 2018: PLoS Biology
Konstantinos Natsis, Maria Piagkou, Nikolaos Lazaridis, Trifon Totlis, Nikolaos Anastasopoulos, Jannis Constantinidis
PURPOSE: The current study investigated the incidence, morphology and morphometry of the ossified ligaments expanding between petrous bone and posterior clinoid processes and in between the anterior, middle and posterior clinoid processes. Side symmetry, gender dimorphism and age influence were also studied. MATERIALS AND METHODS: A total of 123 adult Greek dry skulls were observed. RESULTS: A caroticoclinoid bar (CCB) was found in 60.2%. Partial CCBs appeared more commonly (36...
February 10, 2018: Journal of Cranio-maxillo-facial Surgery
James Barger, Matthew Siow, Michael Kader, Katherine Phillips, Girish Fatterpekar, David Kleinberg, David Zagzag, Chandranath Sen, John G Golfinos, Richard Lebowitz, Dimitris G Placantonakis
Background: While effective for the repair of large skull base defects, the Hadad-Bassagasteguy nasoseptal flap increases operative time and can result in a several-week period of postoperative crusting during re-mucosalization of the denuded nasal septum. Endoscopic transsphenoidal surgery for pituitary adenoma resection is generally not associated with large dural defects and high-flow cerebrospinal fluid (CSF) leaks requiring extensive reconstruction. Here, we present the posterior nasoseptal flap as a novel technique for closure of skull defects following endoscopic resection of pituitary adenomas...
2018: Surgical Neurology International
Yang Ji-Hu, Huang Guo-Dong, Ji Tao, Wang Hai-Dong, Liu Yu-Fei, Guo Jian, Li Zhen, Li Wei-Ping
OBJECTIVE: To explore the surgical methods and clinical effect of endoscopic endonasal approaches for the treatment of invasive pituitary adenomas(IPA). METHODS: A retrospective analysis of the clinical data of 74 patients(75 procedures) with invasive pituitary adenomas treated by different endoscopic endonasal approaches at the Department of Neurosurgery, the First Affiliated Hospital of Shenzhen University from May 2014 to August 2017. The data include clinical manifestation, imaging features, surgical methods and complications, resection rate, cure rate, prognosis and complications in different Knosp classifications and Hardy stages...
March 7, 2018: World Neurosurgery
Leslee N Matheny, Sudipa Sarkar, Hanyuan Shi, Jiun-Ruey Hu, Hannah Harmsen, Ty W Abel, Shubhada M Jagasia, Shichun Bao
We present a case of a 52-year-old male who developed Cushing's Syndrome due to ectopic adrenocorticotrophic hormone (ACTH) secretion from a large esthesioneuroblastoma (ENB) of the nasal sinuses. The patient initially presented with polyuria, polydipsia, weakness, and confusion. Computed tomography scan of the head and magnetic resonance imaging showed a 7 cm skull base mass centered in the right cribriform plate without sella involvement. Work-up revealed ACTH-dependent hypercortisolemia, which did not suppress appropriately after high-dose dexamethasone...
2018: Case Reports in Endocrinology
Dongxia Fu, Yunna Zhang, Haibin Cui
Pituitary adenomas, arising from the pituitary gland cells, are one of the most frequent tumors found in the sella region. However, the molecular mechanisms involved in the carcinogenesis and progression of pituitary adenomas is still not understood in detail. Long noncoding RNA (lncRNA) colon cancer-associated transcript 2 (CCAT2), a newly identified lncRNA, has been reported to be abnormally expressed in some cancers. In the present study, we found that CCAT2 was significantly upregulated in pituitary adenomas tissues...
2018: American Journal of Cancer Research
Matthias K Auer, Mareike R Stieg, Alexander Crispin, Caroline Sievers, Günter K Stalla, Anna Kopczak
BACKGROUND: Empty sella is the neuroradiological or pathological finding of an apparently empty sella turcica containing no pituitary tissue. The prevalence of primary empty sella, i.e., empty sella without any discernible cause, is not precisely known; estimates range from 2% to 20%. Technical advances in neuroradiology have made empty sella an increasingly common incidental finding. It remains unclear whether, and to what extent, asymptomatic adult patients with an incidentally discovered empty sella should undergo diagnostic testing for hormonal disturbances...
February 16, 2018: Deutsches Ärzteblatt International
Hiroki Uchida, Yoshikazu Ogawa, Teiji Tominaga
Idiopathic hypertrophic pachymeningitis (HP) is a rare clinical entity characterized by thickening of the dura mater without obvious underlying disease. High-dose steroid therapy is considered to be the first line for idiopathic HP, but half of patients show resistance for steroid therapy and suffer progressive clinical course. We describe low-dose methotrexate (MTX) administration for recurrent and steroid-resistant idiopathic HP resulting in noticeable improvement without severe adverse effects. A 51-year-old Japanese woman with dermatomyositis first presented with right retro-orbital pain caused by dural thickening in the sella and upper clivus involving the right trigeminal nerve, which was diagnosed as idiopathic HP by transsphenoidal biopsy...
March 3, 2018: Clinical Neurology and Neurosurgery
Giulio Sergio Roi, Giovanni Mosconi, Valentina Totti, Maria Laura Angelini, Erica Brugin, Patrizio Sarto, Laura Merlo, Sergio Sgarzi, Michele Stancari, Paola Todeschini, Gaetano La Manna, Andrea Ermolao, Ferdinando Tripi, Lucia Andreoli, Gianluigi Sella, Alberto Anedda, Laura Stefani, Giorgio Galanti, Rocco Di Michele, Franco Merni, Manuela Trerotola, Daniela Storani, Alessandro Nanni Costa
AIM: To evaluate the effect of a 12-mo supervised aerobic and resistance training, on renal function and exercise capacity compared to usual care recommendations. METHODS: Ninety-nine kidney transplant recipients (KTRs) were assigned to interventional exercise (Group A; n = 52) and a usual care cohort (Group B; n = 47). Blood and urine chemistry, exercise capacity, muscular strength, anthropometric measures and health-related quality of life (HRQoL) were assessed at baseline, and after 6 and 12 mo...
February 24, 2018: World Journal of Transplantation
Jesús Montúfar, Marcelo Romero, Rogelio J Scougall-Vilchis
INTRODUCTION: This article presents a novel technique for automatic cephalometric landmark localization on 3-dimensional (3D) cone-beam computed tomography (CBCT) volumes by using an active shape model to search for landmarks in related projections. METHODS: Twenty-four random CBCT scans from a public data set were imported and processed into Matlab (MathWorks, Natick, Mass). Orthogonal coronal and sagittal projections (digitally reconstructed radiographs) were created, and 2 trained active shape models were used to locate cephalometric landmarks on each...
March 2018: American Journal of Orthodontics and Dentofacial Orthopedics
Guldane Magat, Sevgi Ozcan Sener
BACKGROUND: The aim of this study was to evaluate the morphometric analysis of sella turcica in a Turkish population according to gender, age, and dentofacial skeletal type and to investigate the prevalence of sella turcica shapes in different dentofacial skeletal types. MATERIALS AND METHODS: The lateral cephalometric radiographs of 362 patients (145 males, 217 females) were included and grouped by age, gender, and dentofacial skeletal patterns. Linear dimensions of sella turcica, which include the length, height, and diameter, were measured, and the shapes of sella turcica were evaluated...
March 3, 2018: Folia Morphologica (Warsz)
X L Zheng, Z Q Jiang, Y Han, T Sun, T Zhang, S J Zhang, F Y Lou
Objective: To explore the surgical technique and curative effect of microsurgical resection of large anterior skull base meningioma via unilateral subfrontal and interhemispheric approach. Method: The clinical data of 14 patients with large anterior skull base meningioma who received surgical treatment in the Department of neurosurgery in First Affiliated Hospital of Bengbu Medical College from April 2015 to September 2017 were analysed retrospectively.Of 9 cases were olfactory groove meningioma and 5 cases were tuberculum sellae meningioma...
February 13, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
E Cesur, A T Altug, U Toygar-Memikoglu, D Gumru-Celikel, B Tagrikulu, E Erbay
OBJECTIVES: The aim of this case-control study was to assess sella turcica area and skeletal maturity in children with unilateral cleft lip and palate (UCLP) and compare with those of non-cleft children. SETTING AND SAMPLE POPULATION: A total of 85 UCLP patients aged 7.5-17.08 years (Group 1: age 7-11 years, Group 2: age 11-14 years and Group 3: age 14-18 years) were compared with 85 control subjects without clefts who were divided into similar age groups. MATERIALS AND METHODS: Hand-wrist radiographs and cervical vertebra maturation stages (CVMS) were used to evaluate growth...
March 1, 2018: Orthodontics & Craniofacial Research
Abdulhadi Y Algahtani, Hussein A Algahtani, Abdulhakim B Jamjoom, Alaa M Samkari, Yousef I Marzuk
Craniopharyngiomas usually involve the sella and suprasellar space. Their occurrence in the posterior fossa without extension to the suprasellar region is uncommon with only 16 cases reported in the literature. We report a case of a primary posterior fossa craniopharyngioma that was managed by complete excision with a good recovery. Our case was unique in that the craniopharyngioma occurred in the fourth ventricle and extended downward to the level of C1, a manifestation that was reported only twice in the past...
January 2018: Asian Journal of Neurosurgery
Erika Ozawa, Ei-Ichi Honda, Kulthida Nunthayanon Parakonthun, Hiroko Ohmori, Kazuo Shimazaki, Tohru Kurabayashi, Takashi Ono
BACKGROUND: Magnetic resonance imaging (MRI) has been used to study configurations of speech organs in the resting state. However, MRI is sensitive to metals, and numerous types of metallic appliances, most of which have a large magnetic susceptibility, are used in orthodontic treatment and may cause severe artifacts on MRI. We have developed techniques for obtaining MRI movies of the oral region, to evaluate articulatory changes, especially movement of the tongue, palate, and teeth, pre- and post-orthodontic/orthognathic treatment...
February 19, 2018: Progress in Orthodontics
Kamini Gupta, Shivam Sahni, Kavita Saggar, Gaurav Vashisht
Background: Pituitary macroadenoma is a common tumor of middle-aged people. Magnetic resonance imaging (MRI) is the investigation of choice for its evaluation. Various parameters regarding the extent, consistency, and contrast uptake can be studied and a noninvasive diagnosis is possible. Aims and Objectives: To study the MRI features and extent of pituitary macroadenomas. Materials and Methods: We studied clinical and MRI features of 33 patients of all age groups and both sexes with pituitary macroadenomas who presented to Dayanand Medical College and Hospital, Ludhiana from January 2014 to June 2015...
January 2018: Journal of Natural Science, Biology, and Medicine
Sylvia L Asa, Ozgur Mete
Pituitary pathology is one area of endocrine pathology that is highly dependent on immunohistochemistry. There is a wide range of disorders that occur in and around the sella turcica, and the distinction of tumor-like lesions from neoplasms requires careful evaluation. The diagnosis, prognosis, and predictive features of neoplasms in the sellar region are all dependent on the application and interpretation of biomarkers of cell differentiation, hormonal activity, subcellular morphology, and proliferation. As in hematopathology, the number of biomarkers has increased dramatically and continues to increase...
February 16, 2018: Endocrine Pathology
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
De-Zhi Kang, Ping Chen, Qing-Song Lin, Yuan-Xiang Lin, Xi-Yue Wu, Pei-Sen Yao
OBJECTIVE: To investigate the value of 3D printed models with pathological entities in enhancing the learning curve of surgery of tuberculum sellae meningioma. METHODS: We printed four 3D printed models of tuberculum sellae meningiomas based on radiological data using a 3D printer. Participants were allocated to 3D group and atlas group. In the 3D group, participants learned surgery with the assistance of 3D models. In the atlas group, participants used only two-dimensional materials to assist their learning...
February 9, 2018: World Neurosurgery
Zachary S Peacock, Alfonso Salcines, Maria J Troulis, Leonard B Kaban
PURPOSE: 1) To assess the fate of the permanent teeth in and adjacent to the regenerate in pediatric patients who underwent mandibular distraction osteogenesis (DO) and 2) to compare the postoperative growth of the distracted mandible with age- and gender-matched controls. PATIENTS AND METHODS: This was a retrospective cohort study of children who underwent mandibular DO during the primary or mixed dentition period and before completion of somatic growth (boys aged ≤14 years and girls aged ≤12 years) at Massachusetts General Hospital from 1996 to 2014...
January 31, 2018: Journal of Oral and Maxillofacial Surgery
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