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https://www.readbyqxmd.com/read/29779902/molecular-genetics-and-metabolism-special-edition-diagnosis-diagnosis-and-prognosis-of-mucopolysaccharidosis-iva
#1
REVIEW
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia...
May 15, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29776788/next-generation-sequencing-identifies-trpv4-related-skeletal-dysplasia-in-a-boy-with-progressive-bowlegs
#2
Rai-Hseng Hsu, Wuh-Liang Hwu, Ming Chen, I-Fang Chung, Steven Shinn-Forng Peng, Chen-Yang Chen, Wei-Chung Cheng, Yin-Hsiu Chien, Ni-Chung Lee
No abstract text is available yet for this article.
April 13, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29769514/cleidocranial-dysplasia-presentation-of-clinical-and-radiological-features-of-a-rare-syndromic-entity
#3
R Modgil, K S Arora, A Sharma, S Mohapatra, S Pareek
Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited and be transmitted as dominant characteristics in either gender, or may appear spontaneously. It presents with skeletal defects of several bones, such as partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. The dental manifestations are mainly delayed exfoliation of primary teeth and delayed eruption of permanent teeth with multiple impacted supernumerary teeth...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29768039/loss-of-sonic-hedgehog-gene-leads-to-muscle-development-disorder-and-megaesophagus-in-mice
#4
Xueting Jia, Li Min, Shengtao Zhu, Shutian Zhang, Xiaofeng Huang
Sonic hedgehog ( Shh) is crucial for organogenesis in the foregut. This study investigated the function of Shh at the late-gestational stage; during which, the esophagus continues to differentiate. We established cytokeratin 14 ( CK14)-Cre;Shhfl/fl mice in which the down-regulation of Shh in the epithelium occurred at approximately the same time as esophageal muscle conversion. Hematoxylin and eosin and immunohistochemical staining, with antibodies against keratin 14, Shh, patched 1 (Ptch1), Gli1, proliferating cell nuclear antigen (PCNA), α-smooth muscle actin (αSMA), high-molecular-weight caldesmon (hCD), myogenin, paired box 7 (Pax7), β3-tubulin, and protein gene product 9...
May 16, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29766377/resolution-of-femoral-metaphyseal-dysplasia-in-cinca-syndrome-after-long-term-treatment-with-interleukin-1-blockade
#5
REVIEW
Donato Rigante, Raffaele Manna, Elena Verrecchia, Raffaella Marrocco, Antonio Leone
Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare autoinflammatory disorder driven by uncontrolled hypersecretion of interleukin (IL)-1, which can be clinically depicted by striking cutaneous, neurologic, and skeletal features. Little is known about the exact pathogenesis of CINCA bone disease, which mainly involves the knees. We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years...
May 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29762118/pediatric-orthopaedic-consults-from-chiropractic-care
#6
Andy B Awwad, William L Hennrikus, Douglas G Armstrong
Alternative medicine in pediatrics is expanding, with chiropractic now a common choice for families seeking alternative medical care. Currently, there is sparse information in the literature exploring the role of chiropractic in orthopaedic pathology. The objective of this case series is to present pediatric patients who received treatment from chiropractors and orthopaedic physicians as well as to review the respective existing research. Data collected included chiropractic diagnosis, orthopaedic diagnosis, imaging studies, treatments, and complications...
2018: Journal of Surgical Orthopaedic Advances
https://www.readbyqxmd.com/read/29758562/clinical-relevance-of-systematic-phenotyping-and-exome-sequencing-in-patients-with-short-stature
#7
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B Ekici, Anita Rauch, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Christian T Thiel
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29741626/functional-analysis-of-a-hypomorphic-allele-shows-that-mmp14-catalytic-activity-is-the-prime-determinant-of-the-winchester-syndrome-phenotype
#8
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here, we report a novel hypomorphic MMP14 p.Arg111His (R111H) allele, associated with a mitigated form of WS. Functional analysis demonstrated that this mutation, in contrast to previously reported human and murine MMP14 mutations, does not affect MMP14's transport to the cell membrane...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29739731/evaluation-of-the-efficacy-of-long-term-growth-hormone-theraphy-in-patients-with-hypochondroplas%C3%A4-a
#9
Tuğba Çetin, Zeynep Şıklar, Pınar Kocaay, Merih Berberoğlu
Hypochondroplasia is a cause of disproportionate short stature and characterized by slight clinical manifestations. The aim of this study was to evaluate the efficacy of long-term GH therapy in hypochondroplastic cases with inadequate response to GH simulation tests . In this study, six patients who had height SDS of -3.43 before the treatment and a mean age of 7.42 and received GH treatment at a dose of 0.2 mg / kg / week for a mean of 4.45 years were evaluated. As a result, a good accepted response was found in the first year in hypochondroplastic patients with findings of GH deficiency, but this increase was not found to be sufficient in the patients who achieved the final height...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29736871/predicting-risk-of-recurrent-patellar-dislocation
#10
REVIEW
Shital N Parikh, Marios G Lykissas, Ioannis Gkiatas
PURPOSE OF REVIEW: Lateral patellar dislocation (LPD) is one of the most common injuries of the knee, especially in a young patient. It is multifactorial with several underlying risk factors. The purpose of this review is to present the most recent data concerning risk factors and their predictive value to estimate recurrent LPD risk. RECENT FINDINGS: Several demographic risk factors (age, skeletal immaturity, sex, bilaterality), mechanism of injury, and anatomic risk factors (trochlear dysplasia, patella alta, excessive tibial tubercle lateralization, increased patellar tilt) have been recognized...
May 7, 2018: Current Reviews in Musculoskeletal Medicine
https://www.readbyqxmd.com/read/29736252/a-novel-s269c-mutation-in-fibroblast-growth-factor-receptor-3-in-a-japanese-child-with-hypochondroplasia
#11
Ikuko Takahashi, Daiki Kondo, Chikako Oyama, Tamami Yano, Hiroaki Tamura, Atsuko Noguchi, Tsutomu Takahashi
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.S269C) was identified in a Japanese infant with HCH through direct sequencing of all FGFR3 exons and exon/intron boundaries. This mutation creates an additional cysteine residue in the extracellular region of FGFR3 that results in the functional activation of FGFR3...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29727413/3d-knee-trochlear-morphology-assessment-by-magnetic-resonance-imaging-in-patients-with-normal-and-dysplastic-trochleae
#12
Andrew T Pennock, Aileen Chang, Joshua Doan, James D Bomar, Eric W Edmonds
BACKGROUND: Trochlear dysplasia is recognized as a significant risk factor for patellar instability, but current imaging modalities fail to allow full visualization and classification of the complex 3-dimensional (3D) anatomy of the trochlea. The purpose of this study was to elucidate primary differences in trochlear morphology between patients with and without patellar instability by utilizing 3D magnetic resonance imaging (MRI) reconstructions of the trochlea. METHODS: An institutional review board-approved retrospective review included 24 patients with a diagnosis of patellar instability and an age-matched and sex-matched control population of 12 patients...
April 30, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29721253/neurofibromatosis-type-i-and-multiple-myeloma-coexistence-a-possible-link
#13
Fabrizio Accardi, Valentina Marchica, Cristina Mancini, Elena Maredi, Costantina Racano, Laura Notarfranchi, Davide Martorana, Paola Storti, Eugenia Martella, Benedetta Dalla Palma, Luisa Craviotto, Massimo De Filippo, Antonio Percesepe, Franco Aversa, Nicola Giuliani
The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the scientific community two new cases. The first one is a patient with active MM whereas the second with smoldering MM. Both patients present typical features of NF1 but skeletal alterations were present only in the second case including dysplasia, marked scoliosis and osteoporosis. MM osteolytic lesions were absent in both patients. In addition to the clinical diagnosis of NF1, a molecular testing for NF1 gene mutations has been performed finding that patient one was heterozygous for the c...
March 2, 2018: Hematology Reports
https://www.readbyqxmd.com/read/29704686/a-novel-nkx3-2-mutation-associated-with-perinatal-lethal-phenotype-of-spondylo-megaepiphyseal-metaphyseal-dysplasia-in-a-neonate
#14
Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, Rahsan Gocmen, Gulen Eda Utine, Tutku Soyer, Ayse Korkmaz-Toygar, Gen Nishimura, Mehmet Alikasifoglu, Koray Boduroglu
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck and trunk. SMMD is caused by inactivating mutations in NKX3-2, which encodes a homeobox-containing protein. Because of the rarity of the disorder, the diagnostic feature has not been fully established yet. We describe an affected newborn with dysmorphic facial features and severe short trunk. The patient required immediate intubation at the delivery room and duodenal atresia was detected during his course in neonatal intensive care unit...
April 25, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29704261/further-evidence-for-causation-of-ischiospinal-dysostosis-by-a-pathogenic-variant-in-bmper-and-expansion-of-the-phenotype
#15
Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta M Girisha
Ischiospinal dysostosis (ISD) is a rare skeletal dysplasia characterized by ischial hypoplasia, vertebral segmentation defects and rib deformity (Nishimura et al. 1999). Renal abnormalities, sacral hypoplasia and developmental delay are variable features associated with ISD (Nishimura et al. 2003). Exome sequencing in two families with ISD identified biallelic pathogenic variants in BMPER (OMIM #608699) as the cause of this condition (Kuchinskaya et al. 2016).
April 27, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29700810/refining-the-phenotype-associated-with-biallelic-dnajc21-mutations
#16
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of five unreported affected children and all individuals reported in the literature...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29698804/phenotype-variability-in-hajdu-cheney-syndrome
#17
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, Annick Raas-Rothschild, David B Goldstein, Yair Anikster
Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood...
April 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29695406/a-novel-association-of-campomelic-dysplasia-with-hydrocephalus-due-to-an-unbalanced-chromosomal-translocation-upstream-of-sox9
#18
Prince Antwi, Christopher S Hong, Daniel Duran, Jin Sheng Chih, Weilai Dong, Michael DiLuna, Kristopher T Kahle
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre-Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long arm of chromosome 17 harboring the SOX9 locus. SOX9, a transcription factor, is indispensible in establishing and maintaining neural stem cells in the CNS. We present a patient with angulation of long bones and external female genitalia on prenatal ultrasound who was subsequently found to harbor the chromosomal abnormality 46, XY, t(6;17) (p21...
April 25, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29692401/a-review-of-skeletal-dysplasia-research-in-india
#19
REVIEW
A Uttarilli, H Shah, A Shukla, K M Girisha
We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Literature search using specific keywords in PubMed was performed to retrieve all the published literature on SDs as on July 6, 2017. All published literature on SDs wherein at least one author was from an Indian institute was included. Publications were grouped into different categories based on the major emphasis of the research paper. Five hundred and forty publications in English language were retrieved and categorized into five different groups...
April 2018: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/29687316/bernese-type-triple-pelvic-osteotomy-through-a-single-incision-in-children-over-five-years-a-retrospective-study-of-twenty-eight-cases
#20
YiQiang Li, HongWen Xu, Theddy Slongo, QingHe Zhou, Yuanzhong Liu, WeiDong Chen, JingChun Li, Federico Canavese
INTRODUCTION: Bernese-type triple pelvic osteotomy (BTPO) combines periacetabular and triple innominate osteotomy techniques. However, studies that evaluate the clinical and radiographic outcomes of BTPO are scarce. The aim of this study is to report on the clinical and radiographic outcomes of ambulatory children with developmental dysplasia of the hip (DDH) or Legg-Calvé-Perthes disease (LCPD) managed with BTPO that were older than five years of age at the time of surgery. MATERIALS AND METHODS: We retrospectively reviewed the records of 27 consecutive patients with DDH or LCPD (mean age 7...
April 23, 2018: International Orthopaedics
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