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https://www.readbyqxmd.com/read/28328823/a-case-report-of-pycnodysostosis-with-atypical-femur-fracture-diagnosed-by-next-generation-sequencing-of-candidate-genes
#1
Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by next-generation sequencing (NGS) of candidate genes...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#2
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#3
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: To clarify the usefulness of parental Alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from A multi-center cohort (fetal-skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326337/a-case-of-infantile-osteopetrosis-the-radioclinical-features-with-literature-update
#4
Tamer Ahmed El-Sobky, Ezzat Elsobky, Ismaiel Sadek, Solaf M Elsayed, Mohamed Fawzy Khattab
BACKGROUND: Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable...
June 2016: Bone Reports
https://www.readbyqxmd.com/read/28325581/prenatal-prediction-of-pulmonary-hypoplasia
#5
REVIEW
Jourdan E Triebwasser, Marjorie C Treadwell
Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management...
March 15, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28321993/metatropic-dysplasia-a-skeletal-dysplasia-with-challenging-airway-and-other-anesthetic-concerns
#6
Mary C Theroux, Martha Lopez, Patricia J Olszewsky, Sabina DiCindio, Lynda Arai, Colleen Ditro, Michael B Bober, Olubukola Opeyemi Olla, Tetsu Uejima, David W West, William G Mackenzie
BACKGROUND: Metatropic dysplasia is a rare form of skeletal dysplasia requiring multiple anesthetics for surgical and imaging procedures, most of which are orthopedic procedures. We provide centralized care to patients with skeletal dysplasia at our tertiary care pediatric hospital, and we were able to collect the largest number of metatropic dysplasia patients reported to date. AIM: The aim of this retrospective study was to describe and characterize the anesthetic difficulties in this high-risk population...
March 21, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28321190/skeletal-dysplasias-growing-therapy-for-growing-bones
#7
REVIEW
Angie C Jelin, Elizabeth O'Hare, Karin Blakemore, Eric B Jelin, David Valle, Julie Hoover-Fong
Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28301321/giant-parathyroid-adenoma-associated-with-severe-hypercalcemia-in-an-adolescent-patient
#8
Kinyas Kartal, Nurcihan Aygun, Mujdat Bankaoglu, Alper Ozel, Mehmet Uludag
BACKGROUND: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia. CASE: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Five months previously, he had a rupture of his quadriceps tendon...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28299386/high-rate-of-recurrent-patellar-dislocation-in-skeletally-immature-patients-a-long-term-population-based-study
#9
Thomas L Sanders, Ayoosh Pareek, Timothy E Hewett, Michael J Stuart, Diane L Dahm, Aaron J Krych
PURPOSE: Patellar dislocation can occur in isolation or be associated with chronic instability. The goals of this study are to describe the rate and factors associated with additional patellar instability events (ipsilateral recurrence and contralateral dislocation), as well as the development of patellofemoral arthritis in patients who are skeletally immature at the time of first patellar dislocation. METHODS: The study included a population-based cohort of 232 skeletally immature patients who experienced a first-time lateral patellar dislocation between 1990 and 2010...
March 15, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28289785/-incidental-findings-in-musculoskeletal-radiology
#10
F Wünnemann, C Rehnitz, M-A Weber
BACKGROUND: Increasing numbers of conventional X‑rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an increasing number of incidental findings. The correct interpretation of these incidental findings with respect to the relevance and the evaluation concerning further work-up is an important task of radiologists. OBJECTIVE: Description of common incidental findings in musculoskeletal imaging and their clinical classification...
March 13, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28278379/tibial-tuberosity-anteromedialization-for-patellofemoral-chondral-disease
#11
Federica Rosso, Roberto Rossi, Giorgio Governale, Antongiulio Marmotti, Valeria Cherubini, Umberto Cottino, Davide Edoardo Bonasia
BACKGROUND: Tibial tuberosity anteromedialization (TTA) is a well-established treatment option for patellofemoral chondral disease that is resistant to nonoperative treatment. However, the prognostic factors of this procedure are unknown. PURPOSE: To analyze the prognostic factors correlated with the midterm outcomes of TTA for patellofemoral chondral disease and determine the survivorship. STUDY DESIGN: Case series; Level of evidence, 4. METHODS: Indications of TTA for chondral disease included skeletal maturity, age <65 years, <grade 3 Kellgren-Lawrence degeneration, and isolated patellofemoral pain for ≥6 months despite nonoperative treatment...
March 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28273704/-clinical-and-genetic-characteristics-of-children-with-leigh-syndrome
#12
F Fang, Y Shen, D M Shen, Z M Liu, C H Ding, W C Zhang, S Z Sun, J L Lyu, T L Han, X H Wang, W H Zhang, X Y Yang, J W Li, H S Wu
Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children's Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28272537/mutations-in-the-pcyt1a-gene-are-responsible-for-isolated-forms-of-retinal-dystrophy
#13
Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi
Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different Italian families...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28263186/loss-of-ddrgk1-modulates-sox9-ubiquitination-in-spondyloepimetaphyseal-dysplasia
#14
Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, David S Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T Lu, Lisette Nevarez, Nurit Magal, Annick Raas-Rothschild, Eric C Swindell, Daniel H Cohn, Richard A Gibbs, Philippe M Campeau, Mordechai Shohat, Brendan H Lee
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (DDRGK1) in 4 families affected by SEMD. In zebrafish, ddrgk1 deficiency disrupted craniofacial cartilage development and led to decreased levels of the chondrogenic master transcription factor sox9 and its downstream target, col2a1...
March 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28253570/-clinical-analysis-of-21-cases-with-short-fetal-femur-in-the-third-trimester
#15
Y Ren, Y Q You, H H Zhou, L X Wang, H Xu, R B Li, S J Wang, X X Xie, Y G Meng, Y P Lu
Objective: To analyze the clinical features and to explore the etiology of short fetal femur during the third trimester. Methods: From January 2010 to June 2016, 21 singleton pregnancies with short fetal femur detected by ultrasonography during the third trimester were referred to the Chinese PLA General Hospital. Clinical data were collected, karyotype or single nucleotide polymorphism microarray was carried out to detect chromosomal abnormalities, and FGFR3 c.1138G>A mutation detection was carried out to detect achondroplasia (ACH) via invasive procedure, respectively...
February 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28249712/genetically-confirmed-thanatophoric-dysplasia-with-fibroblast-growth-factor-receptor-3-mutation
#16
Minsun Jung, Sung-Hye Park
Thanatophoric dysplasia (TD), the most common lethal skeletal dysplasia, is a de novo genetic disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. "Thanatophoric" means "dead bearing" in Greek. Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly. TD can be classified into two subgroups according to the morphologic findings, with prominent curved femur suggesting type I TD (TD 1) and with marked clover-leaf skull and relatively straight long bones, favoring type II TD (TD 2)...
February 27, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28246877/anatomic-patellar-instability-risk-factors-in-primary-lateral-patellar-dislocations-do-not-predict-injury-patterns-an-mri-based-study
#17
Marc A Tompkins, Sara R Rohr, Julie Agel, Elizabeth A Arendt
PURPOSE: The primary goal was to describe the injury patterns in a population of primary (first time) lateral patellar dislocators (LPD) to lend clarity to commonly held notions about injury patterns in this population. METHODS: A prospective study identifying patients presenting with LPD between 2008 and 2012. Inclusion criteria were a history and physical exam consistent with primary LPD, and an MRI consistent with the diagnosis without other significant ligamentous injury...
February 28, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28239978/sleep-disordered-breathing-and-its-management-in-children-with-achondroplasia
#18
Rossana Tenconi, Sonia Khirani, Alessandro Amaddeo, Caroline Michot, Geneviève Baujat, Vincent Couloigner, Livio De Sanctis, Syril James, Michel Zerah, Valérie Cormier-Daire, Brigitte Fauroux
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA)...
February 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28231652/fibrous-dysplasia-in-the-epiphysis-of-the-distal-femur
#19
Jung Ho Noh, Jae Woo Lee
Fibrous dysplasia is a common benign skeletal lesion that may involve a single bone or multiple bones. Although fibrous dysplasia can affect any bone, monostotic fibrous dysplasia of the long bone typically occurs in the diaphysis or metaphysis. We report a very rare case of monostotic fibrous dysplasia involving the epiphysis of the distal femur in a young man.
March 1, 2017: Knee Surgery & related Research
https://www.readbyqxmd.com/read/28230213/knock-in-human-fgfr3-achondroplasia-mutation-as-a-mouse-model-for-human-skeletal-dysplasia
#20
Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3(G380R) (FGFR3(ACH)) cDNA, the most common mutation in human ACH...
February 23, 2017: Scientific Reports
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