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Cranial dysplasias

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https://www.readbyqxmd.com/read/28405809/measurement-considerations-on-examiner-dependent-factors-in-the-ultrasound-assessment-of-developmental-dysplasia-of-the-hip
#1
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
#2
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...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28323209/sox9-a-genomic-view-of-tissue-specific-expression-and-action
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
February 15, 2017: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/28193110/pontine-tegmental-cap-dysplasia-in-an-extremely-preterm-infant-and-review-of-the-literature
#11
Sylvie Picker-Minh, Sebastian Hartenstein, Hans Proquitté, Sebastian Fröhler, Vera Raile, Nadine Kraemer, Sarah Apeshiotis, Michael Leipoldt, Karim D Kalache, Deborah Morris-Rosendahl, Eugen Boltshauser, Wei Chen, Angela M Kaindl
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28173652/-clinical-and-genetic-analysis-of-a-family-with-joubert-syndrome-type-10-caused-by-ofd1-gene-mutation
#12
C Meng, K H Zhang, J Ma, X Gao, K Yu, H Y Zhang, Y Wang, Z X Zhang, W G Li, Y Liu, Z T Gai
Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" ...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28111139/double-outlet-right-ventricle-with-an-intact-interventricular-septum-and-concurrent-hypoplastic-left-ventricle-in-a-calf
#13
D K Newhard, S W Jung, R L Winter, T Kuca, J Bayne, T Passler
A 3-day-old Hereford heifer calf presented for evaluation of lethargy and dyspnea, with persistent hypoxia despite supplemental oxygen therapy. A grade III/VI right apical systolic murmur was noted during cardiac auscultation. Echocardiography revealed a double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle and tricuspid valve dysplasia. Post-mortem examination revealed additional congenital anomalies of ductus arteriosus, patent foramen ovale, and persistent left cranial vena cava...
January 19, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/28052439/an-hdac-inhibitor-entinostat-ms-275-partially-prevents-delayed-cranial-suture-closure-in-heterozygous-runx2-null-mice
#14
H S Bae, W J Yoon, Y D Cho, R Islam, H R Shin, B S Kim, J M Lim, M S Seo, S A Cho, K Y Choi, S H Baek, H G Kim, K M Woo, J H Baek, Y S Lee, H M Ryoo
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder caused by mutations in RUNX2, coding a key transcription factor of early osteogenesis. CCD patients suffer from the developmental defects in cranial bones. Despite numerous investigations and clinical approaches, no therapeutic strategy has been suggested to prevent CCD. Here, we show that fetal administration of Entinostat/MS-275, a class I histone deacetylase (HDAC)-specific inhibitor, partially prevents delayed closure of cranial sutures in Runx2(+/-) mice strain of C57BL/6J by two mechanisms: (1) post-translational acetylation of Runx2 protein, which stabilized the protein and activated its transcriptional activity; and (2) epigenetic regulation of Runx2 and other bone marker genes...
January 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28027977/cleidocranial-dysplasia-clinical-endocrinologic-and-molecular-findings-in-15-patients-from-11-families
#15
Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem S Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Z Oya Uyguner
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27992967/role-of-fetal-mri-in-the-evaluation-of-isolated-and-non-isolated-corpus-callosum-dysgenesis-results-of-a-cross-sectional-study
#16
Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus callosum, cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated...
December 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#17
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#18
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27837399/reconstruction-of-the-shallow-acetabulum-with-a-combination-of-autologous-bulk-and-impaction-bone-grafting-fixed-by-cement
#19
Masaaki Maruyama, Shinji Wakabayashi, Hiroshi Ota, Keiji Tensho
BACKGROUND: Acetabular bone deficiency, especially proximal and lateral deficiency, is a difficult technical problem during primary total hip arthroplasty (THA) in developmental dysplasia of the hip (DDH). We report a new reconstruction method using a medial-reduced cemented socket and additional bulk bone in conjunction with impaction morselized bone grafting (additional bulk bone grafting method). QUESTIONS/PURPOSES: In a population of patients with acetabular dysplasia undergoing THA using a medial-reduced cemented socket and additional bulk bone with impacted morselized bone grafting, we evaluated (1) the radiographic appearance of bone graft; (2) the proportion of cups that developed loosening and subsequent revision; and (3) clinical results (outcome scores and complications)...
February 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27784474/-clinical-features-and-gene-mutations-in-epilepsy-of-infancy-with-migrating-focal-seizures
#20
K W Shang, Y H Zhang, X L Yang, A J Liu, Z X Yang, X Y Liu, Y W Jiang, X R Wu
Objective: To summarize the clinical features and gene mutations of epilepsy of infancy with migrating focal seizures (EIMFS). Method: Clinical features and electroencephalograms(EEG)of 9 patients with EIMFS of Peking University First Hospital from May 2015 to January 2016 were analyzed. Candidate gene mutations were screened by next generation sequencing. Result: Among the 9 patients, 3 were males and 6 were females. Two patients had family history. Seizure onset age was 2 days to 3 months after birth (median age 35 days)...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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