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Cranial dysplasias

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https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#1
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28761541/post-traumatic-fibrous-dysplasia-of-the-parietal-bone-a-rare-entity
#2
Muhammad Sohail Umerani, Saqib Kamran Bakhshi, Asad Abbas, Salman Sharif, Sidra Arshad
Fibrous dysplasia (FD) is a rare fibro-osseous lesion in which normal bone is replaced by abnormal fibrous tissue. Although a congenital disorder, a single case report of traumatic etiology had been described in the literature. We report a case of monostotic FD of the parietal calvarium in a 21-year-old female patient who presented to us with a single swelling in the parietal region been noticed after head injury sustained at the age of 7 years. After imaging investigations, the lesion was excised via craniotomy followed by cranioplasty in the same sitting...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28738062/analysis-of-novel-runx2-mutations-in-chinese-patients-with-cleidocranial-dysplasia
#3
Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c...
2017: PloS One
https://www.readbyqxmd.com/read/28706789/craniometaphyseal-dysplasia-a-review-and-novel-oral-manifestation
#4
K Martin, S Nathwani, R Bunyan
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans...
May 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28675887/prenatal-imaging-findings-of-pontine-tegmental-cap-dysplasia-report-of-four-cases
#5
Eléonore Blondiaux, Stéphanie Valence, Stéphanie Friszer, Diana Rodriguez, Lydie Burglen, Hubert Ducou le Pointe, Marie Blouet, Catherine Garel
OBJECTIVES: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. METHODS: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data...
July 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28614352/a-novel-iterative-mixed-model-to-remap-three-complex-orthopedic-traits-in-dogs
#6
Meng Huang, Jessica J Hayward, Elizabeth Corey, Susan J Garrison, Gabriela R Wagner, Ursula Krotscheck, Kei Hayashi, Peter A Schweitzer, George Lust, Adam R Boyko, Rory J Todhunter
Hip dysplasia (HD), elbow dysplasia (ED), and rupture of the cranial (anterior) cruciate ligament (RCCL) are the most common complex orthopedic traits of dogs and all result in debilitating osteoarthritis. We reanalyzed previously reported data: the Norberg angle (a quantitative measure of HD) in 921 dogs, ED in 113 cases and 633 controls, and RCCL in 271 cases and 399 controls and their genotypes at ~185,000 single nucleotide polymorphisms. A novel fixed and random model with a circulating probability unification (FarmCPU) function, with marker-based principal components and a kinship matrix to correct for population stratification, was used...
2017: PloS One
https://www.readbyqxmd.com/read/28585336/liver-directed-human-amniotic-epithelial-cell-transplantation-improves-systemic-disease-phenotype-in-hurler-syndrome-mouse-model
#7
Natalie S Rodriguez, Lisa Yanuaria, Kevin Murphy R Parducho, Irving M Garcia, Bino A Varghese, Brendan H Grubbs, Toshio Miki
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA). In affected patients, the systemic accumulation of GAGs results in skeletal dysplasia, neurological degeneration, multiple organ dysfunction, and early death. Current therapies, including enzyme replacement and bone marrow transplant, improve life expectancy but the benefits to skeletal and neurological phenotypes are limited. In this study, we tested the therapeutic efficacy of liver-directed transplantation of a placental stem cell, which possesses multilineage differentiation potential, low immunogenicity, and high lysosomal enzyme activity...
June 6, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28584686/extra-pituitary-cerebral-anomalies-in-pediatric-patients-of-ectopic-neurohypophysis-an-uncommon-association
#8
Deb K Boruah, Shantiranjan Sanyal, Arjun Prakash, Sashidhar Achar, Rajanikant R Yadav, T Pravakaran, Dhaval D Dhingani, Barun K Sarmah
CONTEXT: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. AIM: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. SETTINGS AND DESIGN: A hospital-based cross-sectional study was conducted in a tertiary care center...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28576543/pycnodysostosis-at-otorhinolaryngology
#9
Tekin Baglam, Adem Binnetoglu, Muhammet Fatih Topuz, Nilay Baş Ikizoglu, Refika Ersu, Serap Turan, Murat Sarı
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28453788/usage-of-dexamethasone-increases-the-risk-of-cranial-neural-crest-dysplasia-in-the-chick-embryo
#10
Xin Cheng, He Li, Yu Yan, Guang Wang, Zachary Berman, Manli Chuai, Xuesong Yang
Dexamethasone (Dex) is commonly used in the treatment of a variety of benign and malignant conditions. Unfortunately, although it has a variety of teratogenic effects, it remains used in clinical practice for pregnant women mainly due to limited alternatives. However, there is limited knowledge of the mechanisms that lead to the observed teratogenic effects. In this study, the effects of Dex during embryogenesis on neural crest development were evaluated in the early chick embryos. First, we demonstrated that 100µL 10-6 M Dex treatment leads to craniofacial developmental defects, and also retards embryo growth and plausibly can cause embryo demise...
April 27, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28405809/measurement-considerations-on-examiner-dependent-factors-in-the-ultrasound-assessment-of-developmental-dysplasia-of-the-hip
#11
Alexander Kolb, Emir Benca, Madeleine Willegger, Stephan E Puchner, Reinhard Windhager, Catharina Chiari
PURPOSE: The standardized sonographic hip screening according to Graf has increased reliability and comparability of measurements in the screening of developmental dysplasia of the hip (DDH). However, examiner dependent factors have been discussed to influence sonographic measurements. The objectives of this study were to examine the tolerance of the transducer positioning and to analyse the impact of transducer inclinations on Graf's hip grading system. MATERIALS AND METHODS: Twenty-four hips in consecutive newborns were screened sonographically in combination with an optoelectronic motion capture system to trace transducer positions in space...
April 12, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28346292/bilateral-labyrinthine-and-internal-auditory-canal-enhancement-in-an-infant-with-severe-labyrinthine-dysplasia-a-previously-unreported-phenomenon
#12
Charles L Anzalone, Mai Lan Ho, Neil S Patel, Lisa A Schimmenti, Melissa D DeJong, Matthew L Carlson
OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2...
June 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28323209/sox9-a-genomic-view-of-tissue-specific-expression-and-action
#13
Aleisha Symon, Vincent Harley
The SOX9 transcription factor controls the differentiation of many cell types among vertebrates. The SOX9 gene locus is large and complex and contains various tissue-specific enhancers. Individual enhancers direct specific expression of SOX9 in chondrocytes, Sertoli cells and cranial neural crest cells. Human SOX9 mutations can lead to either the complete Campomelic Dysplasia syndrome, or isolated clinical features, depending upon whether the mutation occurs in the coding region or in enhancer regions. Chromatin Immunoprecipitation has helped to define SOX9 control of target gene expression at the genome wide level in hair follicle stem cells and in chondrocytes where SOX9 binds at super-enhancers...
March 16, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#14
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28291218/-endoscopic-transnasal-surgery-for-giant-fibrous-dysplasia-of-the-skull-base-spreading-to-the-right-orbital-cavity-and-nasopharynx-a-case-report-and-literature-review
#15
REVIEW
A N Shkarubo, A Yu Lubnin, E Yu Bukharin, L V Shishkina, D N Andreev, K V Koval', I V Chernov, V V Karnaukhov
BACKGROUND: An extended endoscopic endonasal approach is increasingly used in surgical treatment of space-occupying skull base lesions. The international literature reports only 20 cases of surgical treatment for fibrous dysplasia (PD) of the skull base using the endoscopic endonasal approach. We present our experience with the endoscopic endonasal approach in surgical treatment for giant fibrous dysplasia of the skull base, spreading to the right orbital cavity and nasopharynx. CLINICAL CASE: A 26-year-old male patient presented with cranial pain, Vth nerve dysfunction on the right, right keratopathy...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28251330/oculo-auriculo-vertebral-spectrum-going-beyond-the-first-and-second-pharyngeal-arch-involvement
#16
Brotto Davide, Manara Renzo, Ghiselli Sara, Lovo Elisa, Mardari Rodica, Toldo Irene, Castiglione Alessandro, Schifano Giovanni, Stritoni Valentina, Bovo Roberto, Trevisi Patrizia, Martini Alessandro
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome)...
March 2017: Neuroradiology
https://www.readbyqxmd.com/read/28230213/knock-in-human-fgfr3-achondroplasia-mutation-as-a-mouse-model-for-human-skeletal-dysplasia
#17
Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3(G380R) (FGFR3(ACH)) cDNA, the most common mutation in human ACH...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28217872/craniosynostosis-delayed-closure-of-the-fontanelle-anal-genitourinary-and-skin-abnormalities-cdags-syndrome-first-report-in-a-mexican-patient-and-review-of-the-literature
#18
Rodrigo Pastrana-Ayala, Gretty L Peña-Castro, Adriana M Valencia-Herrera, Carlos A Mena-Cedillos, Sonia Toussaint-Caire, Yumiko I Akaki-Carreño, Constanza García-Delgado, Veronica F Morán-Barroso, Mirna Toledo-Bahena
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#19
Janez Dolenšek, Erika Cvetko, Žiga Snoj, Marija Meznaric
Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation...
February 18, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28197624/-nerve-distribution-and-density-in-the-canine-hip-joint-capsule-comparison-of-healthy-and-dysplastic-hip-joints
#20
Felix Giebels, Andreas Prescher, Stefan Wagenpfeil, Arno Bücker, Sylvia Kinzel
OBJECTIVE: The hip-joint capsule is exposed to increased tension forces during canine hip dysplasia, resulting in inflammation of the capsular tissue. It has been postulated that inflammation is associated with an increased nerve-distribution density. Therefore, it could be supposed that the nerve-distribution density in the hip-joint capsule is higher in dogs with dysplastic hip compared to healthy dogs. MATERIAL AND METHODS: In 16 Labrador Retriever dogs that had been euthanised due to unrelated reasons, the hip joints were classified as normoplastic (group 1, n = 18) or dysplastic (group 2, n = 14) based on radiography...
April 19, 2017: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
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