keyword
MENU ▼
Read by QxMD icon Read
search

Cranial dysplasias

keyword
https://www.readbyqxmd.com/read/29666333/a-novel-alu-mediated-microdeletion-in-the-runx2-gene-in-a-chinese-patient-with-cleidocranial-dysplasia
#1
Yunzhu Qian, Yingying Zhang, Bin Wei, Mengshu Zhang, Jianxin Yang, Cuihua Leng, Zili Ge, Xingshun Xu, Miao Sun
Cleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study described a sporadic case with CCD. The clinical data of the proband with CCD was reported and genetic analysis was performed. The proband presented with typical CCD features including supernumerary impacted teeth, bilateral clavicle dysplasia, delayed closure of cranial sutures, and short stature; while his hands were normal. Sequencing analysis of the entire coding region of the RUNX2 gene revealed no pathogenic changes; however, copy-number analysis with the Affymetrix HD array found ~500 kb genomicmicrodeletion...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29624481/craniofacial-manifestations-of-systemic-disorders-ct-and-mr-imaging-findings-and-imaging-approach
#2
V Carlota Andreu-Arasa, Margaret N Chapman, Hirofumi Kuno, Akifumi Fujita, Osamu Sakai
Many systemic diseases or conditions can affect the maxillofacial bones; however, they are often overlooked or incidentally found at routine brain or head and neck imaging performed for other reasons. Early identification of some conditions may significantly affect patient care and alter outcomes. Early recognition of nonneoplastic hematologic disorders, such as thalassemia and sickle cell disease, may help initiate earlier treatment and prevent serious complications. The management of neoplastic diseases such as lymphoma, leukemia, or Langerhans cell histiocytosis may be different if diagnosed early, and metastases to the maxillofacial bones may be the first manifestation of an otherwise occult neoplasm...
April 6, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29573740/posturography-and-dynamic-pedobarography-in-lame-dogs-with-elbow-dysplasia-and-cranial-cruciate-ligament-rupture
#3
José M Carrillo, Maria E Manera, Mónica Rubio, Joaquin Sopena, Angelo Santana, José M Vilar
BACKGROUND: The usefulness of studying posture and its modifications due to locomotor deficiencies of multiple origins has been widely proven in humans. To assess its suitability in the canine species, static posturography and dynamic pedobarography were performed on lame dogs affected with unilateral elbow dysplasia and cranial cruciate ligament rupture by using a pressure platform. With this objective, statokinesiograms and stabilograms, the percentage of pressure distribution between limbs, paw area, mean pressure, and peak pressure, were obtained from lame and sound dogs...
March 24, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29567674/whole-genome-sequencing-of-atacama-skeleton-shows-novel-mutations-linked-with-dysplasia
#4
Sanchita Bhattacharya, Jian Li, Alexandra Sockell, Matthew J Kan, Felice A Bava, Shann-Ching Chen, María C Ávila-Arcos, Xuhuai Ji, Emery Smith, Narges B Asadi, Ralph S Lachman, Hugo Y K Lam, Carlos D Bustamante, Atul J Butte, Garry P Nolan
Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype-6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age-leading to speculation that this was a preserved nonhuman primate, human fetus harboring genetic mutations, or even an extraterrestrial. We previously reported that it was human by DNA analysis with an estimated bone age of about 6-8 yr at the time of demise. To determine the possible genetic drivers of the observed morphology, DNA from the specimen was subjected to whole-genome sequencing using the Illumina HiSeq platform with an average 11...
March 22, 2018: Genome Research
https://www.readbyqxmd.com/read/29561485/surgical-simulation-and-custom-made-implant-for-cranial-fibrous-dysplasia
#5
Yoshiaki Sakamoto, Tomoru Miwa, Kazunari Yoshida, Kazuo Kishi
BACKGROUND: The management of fronto-orbital fibrous dysplasia involves total excision of the dysplastic bone and bone reconstruction using implants. Custom-made implants are used to achieve good contouring. However, the remnant defect after excising the lesion often does not match the implant. METHODS: To design the craniotomy line, a template was prepared by preoperative computed surgical simulation. The template was overlaid on the preoperative cranium, such that its inner surface fits exactly with the cranial surface...
March 20, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29535107/diagnosis-of-sporadic-neurofibromatosis-type-2-in-the-paediatric-population
#6
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29520374/cleidocranial-dysplasia-dental-disorder-treatment-and-audiology-diagnosis
#7
Teresa Matthews-Brzozowska, Dorota Hojan-Jezierska, Wawrzyniec Loba, Marta Worona, Artur Matthews-Brzozowski
A review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of CCD symptoms that include hypoplastic or aplastic clavicles, impacted and supernumerary teeth, delayed closure of fontanelles and cranial sutures, impairment of the hearing system resulting in conductive hearing loss also occurs...
2018: Open Medicine (Warsaw, Poland)
https://www.readbyqxmd.com/read/29496208/developmental-dysplasia-of-the-hip-in-female-adult-individual-site-tres-cruces-i-salta-argentina-superior-formative-period-400-1000-ad
#8
Marcos Plischuk, María Eugenia De Feo, Bárbara Desántolo
Developmental dysplasia of the hip (DDH) is a developmental defect that prevents normal articulation between the acetabulum and the femoral head. This is an unusual condition, with a prevalence of 1-2 per thousand, and with only two poorly described skeletons documented in South American paleopathological literature. In this work we report an individual with such a condition, from the archeological site Tres Cruces I (Quebrada del Toro, Salta, Argentina). Several radiocarbon dates and associated materials date it to the Superior Formative (400-1000 AD)...
March 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29444796/biopsy-proven-multiple-sclerosis-in-an-adult-patient-with-atypical-craniometaphyseal-dysplasia
#9
Jacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara Castellotti
Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD ( ANKH and GJA1 ) resulted negative in this patient...
February 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29390266/pycnodysostosis-with-novel-gene-mutation-and-sporadic-medullary-thyroid-carcinoma-a-case-report
#10
Xiulin Shi, Caoxin Huang, Fangsen Xiao, Wei Liu, Jinyang Zeng, Xuejun Li
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma. PATIENT CONCERNS: A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to our department. She has experienced multiple fractures at lower limbs in the last 2 decades...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#11
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein constitutes an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signaling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumor. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we address the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29324584/maternal-serum-eye-drops-in-the-management-of-pediatric-persistent-corneal-epithelial-defects-a-case-series
#12
Ashton J Kalhorn, Kirstin L Tawse, Avni A Shah, Jennifer L Jung, Darren G Gregory, Emily A McCourt
PURPOSE: We report our experience with the use of maternally derived serum eye drops as adjunctive treatment in the management of pediatric persistent corneal epithelial defects. METHODS: Five eyes of 4 patients were identified in a retrospective review of pediatric patients with persistent corneal epithelial defects who received maternal serum drops. Diagnoses associated with the defects comprised pontine tegmental cap dysplasia with bilateral cranial nerve V1, V2, V3, and VII palsies; pontine tegmental cap dysplasia with left cranial nerve V1, VII, and VIII palsies; traumatic left cranial nerve II, V1, V2, and VI palsies due to a basilar skull fracture; and Stevens-Johnson syndrome with ocular involvement...
January 10, 2018: Cornea
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#13
REVIEW
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29244697/occipitocervical-fusion-for-severe-atlantoaxial-dislocation-in-an-underdeveloped-child-with-chondrodysplasia-punctata-a-case-report
#14
Yuki Tanaka, Kei Watanabe, Keiichi Katsumi, Masayuki Ohashi, Keisuke Nagasaki, Toru Hirano
CASE: We present a case of brachytelephalangic chondrodysplasia punctata with a severe atlantoaxial dislocation in an underdeveloped child. The patient underwent halo jacket application using 10 halo pins with <1 lb/in of torque, followed by posterior occipitocervical fusion with onlay rib and iliac autografts. After bone grafts and replacement of the halo ring multiple times, successful osseous fusion had been achieved by the 2-year follow-up. CONCLUSION: Although simple bone-grafting with a halo jacket is useful in underdeveloped patients with skeletal dysplasia, the complications related to halo fixation, including cranial bone perforation, and the patient's neurological status must be carefully monitored...
January 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29230096/fibroblast-growth-factor-receptor-2-fgfr2-mutation-related-syndromic-craniosynostosis
#15
REVIEW
Saïd C Azoury, Sashank Reddy, Vivek Shukla, Chu-Xia Deng
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 ( FGFR2 ) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29208045/joubert-s-syndrome-and-related-disorders-and-home-based-peritoneal-dialysis-in-east-africa-a-case-report
#16
Grace M Musiime, Doris M W Kinuthia, Donald P Oyatsi, Wangui Manguyu
BACKGROUND: Joubert's syndrome is a rare condition affecting an estimated 1:80,000-1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert's syndrome and related disorders. To date, there are no cases of Joubert's syndrome and related disorders from sub-Saharan Africa described in the literature...
December 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29187205/combined-double-chambered-right-ventricle-tricuspid-valve-dysplasia-ventricular-septal-defect-and-subaortic-stenosis-in-a-dog
#17
Iuliu Scurtu, Flaviu Tabaran, Mircea Mircean, Gavril Giurgiu, Andras Nagy, Cornel Catoi, Dan G Ohad
BACKGROUND: Double chambered right ventricle (DCRV) is a congenital heart anomaly where the right ventricle is divided into two chambers. We describe, for the first time, an unusual combination of DCRV combined with some other congenital heart defects. CASE PRESENTATION: A 1.2-year-old Golden Retriever was presented with lethargy, exercise intolerance and ascites. Physical examination revealed an irregularly irregular pulse and a grade V/VI, systolic, right cranial murmur...
November 29, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/29181530/neurodevelopmental-and-behavioral-outcomes-in-extremely-premature-neonates-with-ventriculomegaly-in-the-absence-of-periventricular-intraventricular-hemorrhage
#18
Athina Pappas, Ira Adams-Chapman, Seetha Shankaran, Scott A McDonald, Barbara J Stoll, Abbot R Laptook, Waldemar A Carlo, Krisa P Van Meurs, Susan R Hintz, Martha D Carlson, Jane E Brumbaugh, Michele C Walsh, Myra H Wyckoff, Abhik Das, Rosemary D Higgins
Importance: Studies of cranial ultrasonography and early childhood outcomes among cohorts of extremely preterm neonates have linked periventricular-intraventricular hemorrhage and cystic periventricular leukomalacia with adverse neurodevelopmental outcomes. However, the association between nonhemorrhagic ventriculomegaly and neurodevelopmental and behavioral outcomes is not fully understood. Objective: To characterize the outcomes of extremely preterm neonates younger than 27 weeks' gestational age who experienced nonhemorrhagic ventriculomegaly that was detected prior to 36 weeks' postmenstrual age...
January 1, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29178549/evaluation-of-aapm-reports-204-and-220-estimation-of-effective-diameter-water-equivalent-diameter-and-ellipticity-ratios-for-chest-abdomen-pelvis-and-head-ct-scans
#19
Christiane S Burton, Timothy P Szczykutowicz
PURPOSE: To confirm AAPM Reports 204/220 and provide data for the future expansion of these reports by: (a) presenting the first large-scale confirmation of the reports using clinical data, (b) providing the community with size surrogate data for the head region which was not provided in the original reports, and additionally providing the measurements of patient ellipticity ratio for different body regions. METHOD: A total of 884 routine scans were included in our analysis including data from the head, thorax, abdomen, and pelvis for adults and pediatrics...
January 2018: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/29039883/volume-targeted-versus-pressure-limited-ventilation-in-neonates
#20
REVIEW
Claus Klingenberg, Kevin I Wheeler, Naomi McCallion, Colin J Morley, Peter G Davis
BACKGROUND: Damage caused by lung overdistension (volutrauma) has been implicated in the development of bronchopulmonary dysplasia (BPD). Modern neonatal ventilation modes can target a set tidal volume as an alternative to traditional pressure-limited ventilation (PLV) using a fixed inflation pressure. Volume-targeted ventilation (VTV) aims to produce a more stable tidal volume in order to reduce lung damage and stabilise the partial pressure of carbon dioxide (pCO2 ). OBJECTIVES: To determine whether VTV compared with PLV leads to reduced rates of death and death or BPD in newborn infants and to determine whether use of VTV affected outcomes including air leak, cranial ultrasound findings and neurodevelopment...
October 17, 2017: Cochrane Database of Systematic Reviews
keyword
keyword
41919
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"