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https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#1
REVIEW
Heeseog Kang, A C S Aryal, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27904917/evaluating-skeletal-dysplasias-on-prenatal-ultrasound-an-emphasis-on-predicting-lethality
#2
REVIEW
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh
Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis...
December 1, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27901232/reliability-of-overbite-depth-indicator-odi-and-anteroposterior-dysplasia-indicator-apdi-in-the-assessment-of-different-vertical-and-sagittal-dental-malocclusions-a-receiver-operating-characteristic-roc-analysis
#3
Farheen Fatima, Mubassar Fida, Attiya Shaikh
Introduction: Differential diagnosis of skeletal and dental relationships is crucial for planning orthodontic treatment. Overbite depth indicator (ODI) and anteroposterior dysplasia indicator (APDI) had been introduced in the past for assessment of vertical and sagittal jaw relationships, respectively. Objective: The objectives of this study were to evaluate the reliability of ODI and APDI in overbite and Angle malocclusions, as well as assess their diagnostic reliability among males and females of different age groups...
September 2016: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/27890699/ayurvedic-management-of-spondyloepiphyseal-dysplasia-tarda-a-rare-hereditary-disorder
#4
Sarvesh Kumar Singh, Kshipra Rajoria
Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagnosed as Vata vyadhi was treated with Panchakarma therapy and selected Ayurvedic oral medicines. Ayurvedic treatment was directed to ameliorate the orthopaedic clinical conditions in this case...
November 25, 2016: Journal of Ayurveda and Integrative Medicine
https://www.readbyqxmd.com/read/27888646/corner-fracture-type-spondylometaphyseal-dysplasia-overlap-with-type-ii-collagenopathies
#5
Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T Lu, Alyssa Tran, Yuqing Chen, Alan Schlesinger, Richard Gibbs, Luisa Bonafe, Ana Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Brendan H Lee, Philippe M Campeau, Lindsay C Burrage
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies...
November 26, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27881841/novel-and-recurrent-xylt1-mutations-in-two-turkish-families-with-desbuquois-dysplasia-type-2
#6
Long Guo, Nursel H Elcioglu, Aritoshi Iida, Yasemin K Demirkol, Seda Aras, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake, Shiro Ikegawa
Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. CANT1 mutations have been reported in both DBQD1 and DBQD2. Recently, mutations in the gene encoding xylosyltransferase 1 (XYLT1) were identified in several families with DBQD2. In this study, we performed whole-exome sequencing in two Turkish families with DBQD2...
November 24, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27871115/abnormal-proteoglycan-synthesis-due-to-gene-defects-causes-skeletal-diseases-with-overlapping-phenotypes
#7
F Taylan, O Mäkitie
In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we exclusively focused on 5 genes - XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 - that encode enzymes involved in the biosynthesis of the common tetrasaccharide linker region of proteoglycans and review the associated diseases, also referred to as linkeropathies, by summarizing the cases reported in literature...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27870580/clinical-characterization-of-patients-with-autosomal-dominant-short-stature-due-to-aggrecan-mutations
#8
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F A Funari, Karen E Heath, Alexander A L Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, Catherine Nowak, Micah Olson, Jadranka Popovic, Štěpánka Průhová, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan Swartz, González-Del Angel Ariadna, Díaz-Cuéllar Sinhué, Hidekazu Hosono, Pedro A Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber
CONTEXT: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, premature growth cessation and minor skeletal abnormalities. OBJECTIVE: Characterize the phenotypic spectrum, associated conditions and response to growth-promoting therapies. DESIGN: Retrospective international cohort study. PATIENTS: Information from 103 individuals (57 female, 46 male) from 20 families with confirmed heterozygous ACAN mutations were included...
November 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27866314/factors-associated-with-health-related-quality-of-life-hrqol-in-adults-with-short-stature-skeletal-dysplasias
#9
Nitasha Dhiman, Alia Albaghdadi, Cheryl K Zogg, Meesha Sharma, Julie E Hoover-Fong, Michael C Ain, Adil H Haider
INTRODUCTION: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores. METHODS: Members (>18 years) of Little People of America were invited to complete an online survey assessing HRQOL using the SF-12 supplemented with indicator-specific questions...
November 19, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27864101/targeted-exome-sequencing-identifies-novel-compound-heterozygous-mutations-in-p3h1-in-a-fetus-with-osteogenesis-imperfecta-type-viii
#10
Yanru Huang, Libin Mei, Weigang Lv, Haoxian Li, Rui Zhang, Qian Pan, Hu Tan, Jing Guo, Xiaomei Luo, Chen Chen, Desheng Liang, Lingqian Wu
Osteogenesis imperfecta (OI) is a highly clinically and genetically heterogeneous group of disorders. It is difficult to identify severe OI in the perinatal period. Here, a Chinese woman with a suspected history of fetal OI was referred to our institution at 19weeks of gestation, due to ultrasound inspection during antenatal screening, which revealed bulbous metaphyses, short humeri, and short thick bent femora in the fetus. Using targeted exome sequencing of 248 genes known to be involved in skeletal system diseases, we identified novel compound heterozygous mutation in the P3H1 gene in the fetus with OI type VIII: c...
November 15, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27862258/raine-syndrome-omim-259775-caused-by-fam20c-mutation-is-congenital-sclerosing-osteomalacia-with-cerebral-calcification-omim-259660
#11
Michael P Whyte, William H McAlister, Michael D Fallon, Mary Ella Pierpont, Vinieth N Bijanki, Shenghui Duan, Ghada A Otaify, William S Sly, Steven Mumm
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, "Raine syndrome" entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775)...
November 10, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27861128/retinoic-acid-catabolizing-enzyme-cyp26c1-is-a-genetic-modifier-in-shox-deficiency
#12
Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke-Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold
Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disease severity/penetrance, we studied a three-generation family with SHOX deficiency. The variant p.Phe508Cys of the retinoic acid catabolizing enzyme CYP26C1 co-segregated with the SHOX variant p.Val161Ala in the affected individuals, while the SHOX mutant alone was present in asymptomatic individuals...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27830109/pelger-hu%C3%A3-t-anomaly-and-greenberg-skeletal-dysplasia-lbr-associated-diseases-of-cholesterol-metabolism
#13
Elizabeth M Turner, Christian Schlieker
Lamin B Receptor (LBR) is an inner nuclear membrane protein associated with the rare human diseases Pelger-Huët anomaly and Greenberg skeletal dysplasia. A new study has used CRISPR/Cas9-mediated genetic manipulations in a human cell system to determine that the molecular etiology of these previously poorly understood disorders is a defect in cholesterol synthesis due to loss of LBR-associated sterol C14 reductase activity. The study furthermore determined that disease-associated LBR point mutations reduce sterol C14 reductase activity by decreasing the affinity of LBR for the reducing agent NADPH...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27829775/ellis-van-creveld-syndrome-in-siblings-a-rare-case-report
#14
Sabitha Gokulraj, N Mohan, J Babususai Raj, S Yasmeen Ahamed, C J Stephen Arokiaraj, A Cicilia Subbulakshmi
Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndrome in siblings.
October 2016: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/27829680/identification-of-a-novel-lrrk1-mutation-in-a-family-with-osteosclerotic-metaphyseal-dysplasia
#15
Long Guo, Katta M Girisha, Aritoshi Iida, Malavika Hebbar, Anju Shukla, Hitesh Shah, Gen Nishimura, Naomichi Matsumoto, Shifa Nismath, Noriko Miyake, Shiro Ikegawa
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrrk1 knockout mice exhibited phenotypic similarity with OSMD. Here we report a second LRRK1 mutation in Indian sibs with OSMD. They had homozygous mutation (c.5971_5972insG) that produces an elongated mutant protein (p...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27826699/a-unique-case-of-multiple-non-ossifying-fibromas-with-polyostotic-monomelic-distribution-and-aggressive-clinical-course
#16
Alessandro Corsi, Cristina Remoli, Mara Riminucci, Ernesto Ippolito, John Dimitriou
Multiple non-ossifying fibromas (MNOFs) occur either isolated or in association with other anomalies, are usually localized in the long bones of the lower limbs, may be radiographically confused with other skeletal lesions, and tend to heal spontaneously with the completion of the skeletal growth. Segmental distribution, either monomelic or polymelic and ipsilateral, is rare and commonly observed in the context of developmental diseases known as "RASopathies", which are caused by mutations in genes that encode components or regulators within the Ras/mitogen-activated protein kinase signaling pathway...
November 8, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27826597/are-the-current-classifications-and-radiographic-measurements-for-trochlear-dysplasia-appropriate-in-the-skeletally-immature-patient
#17
Matthew Stepanovich, James D Bomar, Andrew T Pennock
BACKGROUND: The assessment and classification of trochlear dysplasia in pediatric patients has yet to be well documented or validated. PURPOSE: To examine several different measurements/classifications of trochlear dysplasia in skeletally immature patients to assess inter- and intraobserver reliability and to determine which best correlates with patellar instability. STUDY DESIGN: Cohort study (diagnosis); Level of evidence, 3. METHODS: Radiographs and magnetic resonance imaging (MRI) scans of 36 skeletally immature patients undergoing surgery for patellar instability were compared with 27 age-matched cohort patients who had similar imaging for an acute knee injury but no clinical evidence of patellar instability...
October 2016: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/27825664/-florid-osseous-dysplasia-management-of-a-symptomatic-case
#18
M Maccotta, L Radoï
INTRODUCTION: Florid osseous dysplasia is a rare and benign fibro-osseous pathology, in which bone is replaced by fibrous tissue and metaplastic bone. It can remain asymptomatic for a long time and is most often discovered incidentally during a radiological examination. Sometimes, patients are seen because of an infectious complication. OBSERVATION: An edentulous 62 years-old woman was referred for a painful mandibular swelling preventing insertion of her removable denture...
November 4, 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
https://www.readbyqxmd.com/read/27817770/-effect-of-advanced-maternal-age-on-birth-defects-and-postnatal-complications-of-neonates
#19
Zheng Wang, Li Li, Xue-Ya Lei, Jin Xue, Hong-Ying Mi
OBJECTIVE: To investigate the effect of advanced maternal age on birth defects and postnatal complications of neonates. METHODS: Among the 1 109 neonates who were born at The First People's Hospital of Yunnan Province between January 2014 and December 2015, 536 neonates whose mothers were aged ≥35 years were enrolled as advanced age group and 573 neonates whose mothers were aged <35 years were enrolled as appropriate-age group. The incidences of the comorbidities in pregnancy, fetal intrauterine distress, neonatal birth defects, and postnatal complications were compared between the two groups...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27813696/chromatin-changes-in-smarcal1-deficiency-a-hypothesis-for-the-gene-expression-alterations-of-schimke-immuno-osseous-dysplasia
#20
Marie Morimoto, Kunho Choi, Cornelius F Boerkoel, Kyoung Sang Cho
Mutations in SMARCAL1, which encodes a DNA annealing helicase with roles in DNA replication fork restart, DNA repair, and gene expression modulation, cause Schimke immuno-osseous dysplasia (SIOD), an autosomal recessive disease characterized by skeletal dysplasia, renal disease, T-cell immunodeficiency, and arteriosclerosis. The clinical features of SIOD arise from pathological changes in gene expression; however, the underlying mechanism for these gene expression alterations remains unclear. We hypothesized that changes of the epigenome alter gene expression in SIOD...
November 4, 2016: Nucleus
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