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Cranial dysplasias

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https://www.readbyqxmd.com/read/28052439/an-hdac-inhibitor-entinostat-ms-275-partially-prevents-delayed-cranial-suture-closure-in-heterozygous-runx2-null-mice
#1
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
#2
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...
December 24, 2016: 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
#3
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: To characterize isolated and non-isolated forms of Corpus Callosum Dysgenesis (CCD) at Fetal 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 (CC), cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded...
December 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#4
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
#5
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
#6
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)...
November 11, 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27784474/-clinical-features-and-gene-mutations-in-epilepsy-of-infancy-with-migrating-focal-seizures
#7
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
https://www.readbyqxmd.com/read/27767902/maternal-administration-of-meclozine-for-the-treatment-of-foramen-magnum-stenosis-in-transgenic-mice-with-achondroplasia
#8
Masaki Matsushita, Kenichi Mishima, Ryusaku Esaki, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum stenosis (FMS) is one of the serious neurological complications in ACH. Through comprehensive drug screening, the authors identified that meclozine, an over-the-counter drug for motion sickness, inhibited activation of FGFR3 signaling. Oral administration of meclozine to the growing ACH mice promoted longitudinal bone growth, but it did not prevent FMS...
January 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27753269/spondyloepiphyseal-dysplasia-omani-type-chst3-mutation-spectrum-and-phenotypes-in-three-indian-families
#9
Priyanka Srivastava, Himani Pandey, Divya Agarwal, Kausik Mandal, Shubha R Phadke
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. CHST3 gene encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1) which mediates the sulfation of proteoglycans, (chondroitin sulfate), in the extracellular matrix of cartilage. CHST3 gene was sequenced in probands from three different families with SED. In two families missense mutations (c.904G>C predicting the substitution D302H) and c...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27738723/-anatomy-and-malformations-of-the-posterior-cranial-fossa
#10
T Struffert
Many important structures are located in the confined space within the posterior cranial fossa. This article describes the main aspects of the anatomy. As a uniform classification of malformations of the posterior cranial fossa does not exist the main syndromes, such as Chiari malformations, zerebellar hypoplasia and dysplasia are discussed separately.
October 13, 2016: Der Radiologe
https://www.readbyqxmd.com/read/27594963/craniometaphyseal-dysplasia-in-a-14-month-old-a-case-report-and-review-of-imaging-differential-diagnosis
#11
Sumit Singh, Curtis Qin, Srikanth Medarametla, Shilpa V Hegde
We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias...
September 2016: Radiology case reports
https://www.readbyqxmd.com/read/27588933/dolichocephaly-in-preterm-infants-prevalence-risk-factors-and-early-motor-outcomes
#12
Dana B McCarty, Jennifer R Peat, William F Malcolm, P Brian Smith, Kimberley Fisher, Ricki F Goldstein
Objective The purpose of this study was to determine when dolichocephaly develops in preterm infants, to establish factors that contribute to its development, and to determine its association with adverse motor outcomes. Study Design This study was a retrospective review of data collected from preterm infants born at < 32 weeks' gestation. The cranial index was measured by a physical therapist (PT) at three time points during hospitalization. Demographic data, neonatal morbidities, and motor outcomes at outpatient follow-up were collected...
September 2, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27574995/brain-dysplasia-associated-with-ciliary-dysfunction-in-infants-with-congenital-heart-disease
#13
Ashok Panigrahy, Vincent Lee, Rafael Ceschin, Giulio Zuccoli, Nancy Beluk, Omar Khalifa, Jodie K Votava-Smith, Mark DeBrunner, Ricardo Munoz, Yuliya Domnina, Victor Morell, Peter Wearden, Joan Sanchez De Toledo, William Devine, Maliha Zahid, Cecilia W Lo
OBJECTIVE: To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes...
November 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27562807/orthopaedic-disorders-of-pycnodysostosis-a-report-of-five-clinical-cases
#14
Pilar Rovira Martí, Rosendo Ullot Font
PURPOSE: Pycnodysostosis is a rare autosomal recessive genetic disorder usually diagnosed at an early age. The few previously published case series have generally focused on maxillofacial manifestations and genetic considerations. The purpose of this study was to evaluate the clinical characteristics and differential diagnosis of pycnodysostosis focusing on its orthopaedic manifestations, which have been poorly described in the literature. METHODS: We evaluated clinical and radiographic characteristics of five patients with pycnodysostosis...
August 25, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27554863/paleodysmorphology-and-paleoteratology-diagnosing-and-interpreting-congenital-conditions-of-the-skeleton-in-anthropological-contexts
#15
REVIEW
Roelof-Jan Oostra, Lucas Boer, Alie E van der Merwe
Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected...
October 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27484238/mild-camurati%C3%A2-engelamann-disease-presenting-with-exophthalmos-as-the-first-and-only-manifestation-a-case-report
#16
Ruizhi Jiajue, Bo Wu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3. Extremely variable penetrance has been reported to be associated with CED, the most common features of which are limb pain, waddling gait and muscle weakness. The present study reported on a consanguineous Chinese family with one affected individual that initially presented with exophthalmos, which has not previously been reported as an initial manifestation of CED...
September 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27478655/maxillofacial-changes-in-melnick-needles-syndrome
#17
Leilane Larissa Albuquerque do Nascimento, Monica da Consolação Canuto Salgueiro, Mariana Quintela, Victor Perez Teixeira, Ana Carolina Costa Mota, Camila Haddad Leal de Godoy, Sandra Kalil Bussadori
Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27410998/failure-of-ossification-of-the-occipital-bone-in-mandibuloacral-dysplasia-type-b
#18
Damien Haye, Hend Dridi, Jonathan Levy, Véronique Lambert, Maurice Lambert, Mohamed Agha, Frédéric Adjimi, Jürgen Kohlhase, Dan Lipsker, Alain Verloes
Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder. We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27384119/-a-case-of-fibromuscular-dysplasia-in-a-patient-with-various-main-trunk-dissections-in-the-head-and-neck-over-a-short-period
#19
REVIEW
Kazuhiro Ando, Osamu Sasaki, Masatoshi Watanabe, Takeo Nashimoto, Bumpei Kikuchi
We report a case of subarachnoid hemorrhage(SAH)from an intracranial vertebral artery(VA)dissection in a patient with fibromuscular dysplasia(FMD)who presented with headache. A 54-year-old woman complained of spontaneous occipital headache. The dilatation of the left VA was detected on magnetic resonance angiography(MRA). She was diagnosed with left VA dissection(headache onset type). After sudden onset of headache on the second day of hospitalization, her consciousness level, as defined by the Japan Coma Scale, was 300...
July 2016: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/27278644/the-use-of-a-three-dimensional-endoscope-for-different-skull-base-tumors-results-of-a-preliminary-extended-endonasal-surgical-series
#20
Giuseppe Catapano, Matteo de Notaris, Domenico Di Maria, Luis Alonso Fernandez, Giuseppe Di Nuzzo, Vincenzo Seneca, Giuseppina Iorio, Iacopo Dallan
BACKGROUND: The evolution of skull base surgery over the past decade has been influenced by advancement in visualization technology. Recently, as a result of such improvements, three-dimensional (3-D) scopes have been widely used during endoscopic endonasal approaches. In the present study, we describe the use of 3-D stereoscopic endoscope for the treatment of a variety of skull base lesions. METHODS: From January 2010 to June 2015, a 3-D endoscopic endonasal approach (4 and 4...
August 2016: Acta Neurochirurgica
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