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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/29664878/c2-translaminar-screw-fixation-in-children
#2
Brian W Yang, Michael P Glotzbecker, Michael Troy, Mark R Proctor, Michael T Hresko, Daniel J Hedequist
BACKGROUND: Axis (C2) screw fixation has been shown to be effective in treating disorders that necessitate cervical stabilization. Although translaminar C2 screws have demonstrated clinical efficacy in adults, this technique has not yet been thoroughly investigated in children. This study describes the indications, technique, and results of translaminar C2 screw fixation in a case series of pediatric cervical spine disorders. METHODS: We searched the orthopaedic database at our institution for patients who had undergone a cervical spinal fusion that encompassed C2 between 2007 and 2017...
April 16, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29664512/short-stature-and-hypothyroidism-in-a-child-with-nail-patella-syndrome-a-case-report
#3
C Goecke, C Mellado, C García, H García
BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29660427/epiphyseal-growth-plate-architecture-is-unaffected-by-early-postnatal-activation-of-the-expression-of-r992c-collagen-ii-mutant
#4
Jolanta Fertala, Machiko Arita, Andrzej Steplewski, William V Arnold, Andrzej Fertala
Spondyloepiphyseal dysplasia (SED) exemplifies a group of heritable diseases caused by mutations in collagenous proteins of the skeletal system. Its main feature is altered skeletal growth. Pathomechanisms of SED include: changes in the stability of collagen II molecules, inability to form proper collagen fibrils, excessive intracellular retention of mutant molecules, and endoplasmic reticulum stress. The complexity of this pathomechanism presents a challenge for designing therapies for SED. Our earlier research tested whether such therapies only succeed when applied during a limited window of development...
April 13, 2018: Bone
https://www.readbyqxmd.com/read/29660408/expansion-of-the-clinical-spectrum-of-frontometaphyseal-dysplasia-2-caused-by-the-recurrent-mutation-p-pro485leu-in-map3k7
#5
Alice Costantini, Carina Wallgren-Pettersson, Outi Mäkitie
Frontometaphyseal dysplasia 2 (FMD2) is a skeletal dysplasia with supraorbital hyperostosis combined with undermodeling of the bones, joint contractures and some extraskeletal features. It is caused by heterozygous mutations in MAP3K7, encoding the Mitogen-Activated Protein 3-Kinase 7. MAP3K7 is activated by TGF-β and plays an important role in osteogenesis. Less than 20 patients with FMD2 and MAP3K7 mutations have been described thus far. The majority of the patients harbor a recurrent missense mutation, NM_003188...
April 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29657451/total-hip-arthroplasty-in-hurler-syndrome-8-years-follow-up-a-case-report-with-review-of-literature
#6
Deepak Gautam, Rajesh Malhotra
Life expectancy in Hurler syndrome is significantly improved by enzyme therapy with bone marrow transplantation. However, the deterioration of skeletal abnormalities persists. Hip dysplasia is a common presentation which may progress to significant hip arthritis requiring total hip arthroplasty at later stage. We report a long-term outcome of cementless total hip arthroplasty in a patient with Hurler syndrome who was successfully treated with bone marrow transplant.
March 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29656376/human-genetics-of-sclerosing-bone-disorders
#7
REVIEW
Raphaël De Ridder, Eveline Boudin, Geert Mortier, Wim Van Hul
PURPOSE OF REVIEW: The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents. RECENT FINDINGS: Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias...
April 14, 2018: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/29643884/brachdactyly-instigated-as-a-result-of-mutation-in-gdf5-and-nog-genes-in-pakistani-population
#8
Samiullah Khan, Muhammad Mudassir, Naqab Khan, Asmatullah Marwat
Objectives: Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family. Methods: Poly Acrylamide Gel Electrophoresis and Polymerase Chain Reaction was used for the genomic screening and linkage analysis to observe the mutation in genes...
January 2018: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29627275/growth-impairment-in-mucopolysaccharidoses
#9
REVIEW
Melodie Melbouci, Robert W Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature...
March 16, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29620724/expanding-the-phenome-and-variome-of-skeletal-dysplasia
#10
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E Shamseldin, Shams Anazi, Nour Ewida, Hessa S Alsaif, Jawahir Y Mohamed, Anas M Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona S Aglan, Muddathir H Hamad, Mustafa A Salih, Ahlam A Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M H Abdel-Salam, Hisham Alkuraya, Winnie Ong Peitee, W T Keng, Abdullah Qasem, Aziza M Mushiba, Maha S Zaki, Mahmoud R Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia Temtamy, Alka V Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A Otaify, Khalda Amr, Saeed Al Tala, Arif O Khan, Tamer Rizk, Aida Alaqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S Alkuraya
PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2)...
April 5, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29610693/total-hip-arthroplasty-in-a-patient-with-oto-spondylo-megaepiphyseal-dysplasia-planned-by-three-dimensional-motion-analyses-and-full-scale-three-dimensional-plaster-model-of-bones
#11
Takeyuki Tanaka, Hideya Ito, Hirofumi Oshima, Nobuhiko Haga, Sakae Tanaka
We present the case of a 28-year-old woman with oto-spondylo-megaepiphyseal dysplasia, which is a rare skeletal disorder, who underwent bilateral total hip arthroplasty. Full-scale three-dimensional plaster model of the acetabulum and the femur provided us with a feasible preoperative plan. Pre- and postoperative three-dimensional motion analyses proved a significant improvement in her ambulation and confirmed the efficacy of total hip arthroplasty. In conclusion, full-scale three-dimensional plaster models of the bone and three-dimensional motion analyses were useful for total hip arthroplasty in patients with skeletal dysplasia...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29606097/mucopolysaccharidosis-iiib-and-mild-skeletal-anomalies-coexistence-of-naglu-and-cyp26b1-missense-variations-in-the-same-patient-in-a-chinese-family
#12
Jinliang Li, Han Xie, Yuwu Jiang
BACKGROUND: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare...
April 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29602482/-neurofibromatosis-as-a-cause-of-breathlessness
#13
A Palot, C Ferrandez, K Alagha, A Ilstad-Minnihan, C Tummino, M Gouitaa, D Charpin, P Chanez
INTRODUCTION: Type 1 neurofibromatosis, also called "Recklinghausen's disease" is among the most frequent autosomal dominant genetic disorders, with an incidence of 1:3500 births. It mainly affects the skin and peripheral nervous system. However, in its less frequent manifestations, are tumors such as meningocele and skeletal dysplasias leading to severe clinical presentation. CASE REPORT: We report the case of a 55-year-old patient with type 1 neurofibromatosis and dyspnea due to a large left thoracic meningocele combined with a significant kyphoscoliosis, causing a severe restrictive ventilatory defect, complicated by chronic respiratory failure and pulmonary hypertension...
March 27, 2018: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/29602437/a-computer-vision-based-system-for-monitoring-vojta-therapy
#14
Muhammad Hassan Khan, Julien Helsper, Muhammad Shahid Farid, Marcin Grzegorzek
A neurological illness is t he disorder in human nervous system that can result in various diseases including the motor disabilities. Neurological disorders may affect the motor neurons, which are associated with skeletal muscles and control the body movement. Consequently, they introduce some diseases in the human e.g. cerebral palsy, spinal scoliosis, peripheral paralysis of arms/legs, hip joint dysplasia and various myopathies. Vojta therapy is considered a useful technique to treat the motor disabilities...
May 2018: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#15
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29599350/periapical-cemento-osseous-dysplasia-is-rarely-diagnosed-on-orthopantomograms-of-patients-with-neurofibromatosis-type-1-and-is-not-a-gender-specific-feature-of-the-disease
#16
Reinhard E Friedrich, Anika Reul
Several skeletal aberrations of the skull have been described for the tumor predisposition syndrome neurofibromatosis type 1 (NF1). Recently, periapical cemental/cemento-osseous dysplasia (COD) has been described in females affected with NF1. This reactive lesion of the hard tissues in tooth-bearing areas of the jaw has been proposed to represent a gender-specific radiological feature of NF1. The aim of this study was to investigate the prevalence of COD in patients with NF1. PATIENTS AND METHODS: The orthopantomograms (OPGs) of 179 patients with a confirmed diagnosis of NF1 were analyzed for COD...
April 2018: Anticancer Research
https://www.readbyqxmd.com/read/29595812/rapid-prenatal-diagnosis-using-targeted-exome-sequencing-a-cohort-study-to-assess-feasibility-and-potential-impact-on-prenatal-counseling-and-pregnancy-management
#17
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29593476/novel-and-recurrent-mutations-in-the-fgfr3-gene-and-double-heterozygosity-cases-in-a-cohort-of-brazilian-patients-with-skeletal-dysplasia
#18
Maria E S Gomes, Thatiane Y Kanazawa, Fernanda R Riba, Natálya G Pereira, Maria C C Zuma, Natana C Rabelo, Maria T Sanseverino, Dafne D G Horovitz, Juan C Llerena, Denise P Cavalcanti, Sayonara Gonzalez
Mutations in the fibroblast growth factor receptor 3 gene ( FGFR3 ) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the FGFR3 gene were PCR amplified and sequenced. All cases had recurrent mutations related to ACH, HCH, TDI or TDII, except for 2 patients. One of them had a classical TDI phenotype but a typical ACH mutation (c.1138G>A) in combination with a novel c...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29575627/a-recurrent-mutation-causing-melnick-needles-syndrome-in-females-confers-a-severe-lethal-phenotype-in-males
#19
Careni Spencer, Hendrik Lombaard, Amy Wise, Amanda Krause, Stephen P Robertson
Melnick-Needles syndrome (MNS; MIM 309350) is an X-linked skeletal dysplasia caused by mutations in FLNA. Females with the condition present with characteristic facial features, short stature, skeletal anomalies, including poorly modeled and sclerotic bones, and structural abnormalities such as cardiac and urological defects. Previously males were thought to present with either a mild phenotype compatible with life or a severe lethal presentation depending on the maternal phenotype. The discovery of a limited number of mutations in FLNA as the cause of the condition has clarified the molecular basis of the disorder, but only a very small number of severely affected males have been reported with MNS...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29572747/severe-nasomaxillary-hypoplasia-binder-phenotype-on-prenatal-us-mri-an-important-marker-for-the-prenatal-diagnosis-of-chondrodysplasia-punctata
#20
Anna R Blask, Eva I Rubio, Kimberly A Chapman, Anne K Lawrence, Dorothy I Bulas
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017...
March 23, 2018: Pediatric Radiology
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