keyword
MENU ▼
Read by QxMD icon Read
search

Cranial dysplasias

keyword
https://www.readbyqxmd.com/read/29444796/biopsy-proven-multiple-sclerosis-in-an-adult-patient-with-atypical-craniometaphyseal-dysplasia
#1
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
#2
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
#3
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 forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. 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 addressed 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
November 27, 2017: 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
#11
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...
November 27, 2017: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/29039883/volume-targeted-versus-pressure-limited-ventilation-in-neonates
#12
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 (pCO 2 ). 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
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#13
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29019629/health-disparities-and-child-development-after-prematurity
#14
Frances A Carter, Michael E Msall
There is increased recognition that preterm neonates require sequential surveillance to capture the spectrum of coordination, communication, learning, and behavior regulation disorders that may occur in the first 5 years of life and beyond. In particular, the framework of follow-up needs to go beyond the detection of cerebral palsy, blindness, and deafness in the first 2 years of life for only those at highest preterm risk (ie, <28 weeks gestation, with combinations of severe cranial sonographic abnormalities, bronchopulmonary dysplasia, and retinopathy of prematurity)...
October 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28990699/novel-amer1-frameshift-mutation-in-a-girl-with-osteopathia-striata-with-cranial-sclerosis
#15
Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
No abstract text is available yet for this article.
October 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28966816/natural-history-of-cranial-fibrous-dysplasia-revealed-during-long-term-follow-up-case-report-and-literature-review
#16
David L Penn, Richard J Tartarini, Carolyn H Glass, Umberto De Girolami, Amir A Zamani, Ian F Dunn
BACKGROUND: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. One of the more common locations of FD occurrence is the craniofacial region. Treatment of asymptomatic FD often involves conservative management with serial imaging...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28965976/the-presence-of-diminished-white-matter-and-corpus-callosal-thinning-in-a-case-with-a-sox9-mutation
#17
Ayumi Matsumoto, Eri Imagawa, Noriko Miyake, Takahiro Ikeda, Mizuki Kobayashi, Masahide Goto, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia...
September 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28963390/acromegaly-with-hypophosphataemia-mccune-albright-syndrome
#18
Rimesh Pal, Pinaki Dutta, Kanchan Kumar Mukherjee, Anil Bhansali
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia...
September 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28962659/polysplenia-syndrome-with-duodenal-and-pancreatic-dysplasia-in-a-holstein-calf-a-case-report
#19
Daisuke Kondoh, Tomomi Kawano, Tomoaki Kikuchi, Kaoru Hatate, Kenichi Watanabe, Motoki Sasaki, Norio Yamagishi, Hisashi Inokuma, Nobuo Kitamura
BACKGROUND: Laterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained...
September 29, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28924529/anterior-fontanelle-wormian-bone-fontanellar-bone-a-review-of-this-rare-anomaly-with-case-illustration
#20
Jaspreet Johal, Joe Iwanaga, Marios Loukas, R Shane Tubbs
Wormian bones are a relatively rare skeletal anomaly that present as accessory bone(s) within the sutures of the cranium and even more rarely within the fontanelles. It is believed that they arise from the formation of abnormal cranial ossification centers. Although not extensively reported in the literature, this anomaly is thought to be associated with other anatomical anomalies such as osteogenesis imperfecta, rickets, and other bone dysplasias. When located within the fontanelles, the most likely site of occurrence is the posterior fontanelle...
July 7, 2017: Curēus
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"