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https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#1
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742282/med-resulting-from-recessively-inherited-mutations-in-the-gene-encoding-calcium-activated-nucleotidase-cant1
#2
Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J Ho, Julia A Ainsworth, Deborah A Nickerson, Michael J Bamshad, LaDonna Immken, Ralph S Lachman, Daniel H Cohn
Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early-onset osteoarthropathy. Dominantly inherited mutations in COMP, MATN3, COL9A1, COL9A2, and COL9A3, and recessively inherited mutations in SLC26A2, account for the molecular basis of disease in about 80-85% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in CANT1, which encodes calcium-activated nucleotidase 1...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28732535/case-report-rare-skeletal-manifestations-in-a-child-with-primary-hyperparathyroidism
#3
Maulee Hiromi Arambewela, Kamani Danushka Liyanarachchi, Noel P Somasundaram, Aruna S Pallewatte, Gamini L Punchihewa
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...
July 21, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28726121/bone-marrow-oedema-predicts-bone-collapse-in-paediatric-and-adolescent-leukaemia-patients-with-corticosteroid-induced-osteonecrosis
#4
Ashok Joseph Theruvath, Preeti Arun Sukerkar, Shanshan Bao, Jarrett Rosenberg, Sandra Luna-Fineman, Sandhya Kharbanda, Heike Elisabeth Daldrup-Link
OBJECTIVES: Corticosteroid treatment of paediatric leukaemia patients can lead to osteonecrosis (ON). We determined whether bone marrow oedema (BME) is an early sign of progressive ON and eventual bone collapse. METHODS: In a retrospective study, two radiologists reviewed MR imaging characteristics of 47 early stage epiphyseal ON in 15 paediatric and adolescent leukaemia patients. Associations between BME on initial imaging studies and subchondral fracture, disease progression and bone collapse were assessed by Cochran-Mantel-Haenszel tests...
July 19, 2017: European Radiology
https://www.readbyqxmd.com/read/28721475/epithelioid-hemangioma-of-bone-radiologic-and-magnetic-resonance-imaging-characteristics-with-histopathological-correlation
#5
Kathleen Schenker, Steven Blumer, Diego Jaramillo, Amanda L Treece, Aashim Bhatia
BACKGROUND: Epithelioid hemangioma is a rare vascular tumor that can occur in soft tissues or bone. The tumor is part of a spectrum of vascular tumors that also includes epithelioid hemangioendothelioma and angiosarcoma. When involving the bone, the tumor usually involves the metaphysis or diaphysis of the long tubular bones and most commonly occurs in adults. It has been rarely reported in pediatric patients, and in these reported patients, the tumor primarily involves the epiphysis...
July 18, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28718808/beta-palmitate-improves-bone-length-and-quality-during-catch-up-growth-in-young-rats
#6
Meytal Bar-Maisels, Yankel Gabet, Raanan Shamir, Sahar Hiram-Bab, Metsada Pasmanik-Chor, Moshe Phillip, Fabiana Bar-Yoseph, Galia Gat-Yablonski
Palmitic acid (PA) is the most abundant saturated fatty acid in human milk, where it is heavily concentrated in the sn-2-position (termed beta palmitate, BPA) and as such is conserved in all women, regardless of their diet or ethnicity, indicating its physiological and metabolic importance. We hypothesized that BPA improves the efficiency of nutrition-induced catch up growth as compared to sn-1,3 PA, which is present in vegetable oil. Pre-pubertal male rats were subjected to a 17 days food restriction followed by re-feeding for nine days with 1,3 PA or BPA-containing diets...
July 18, 2017: Nutrients
https://www.readbyqxmd.com/read/28718258/variations-in-the-age-of-fusion-of-ischial-tuberosity-a-radiological-study
#7
Hina Siddiqi, Sarah Nisar, Nazish Waheed
BACKGROUND: Human skeleton develops from separate ossification centres which continue to ossify till the bone is completely formed. Radiological techniques are very reliable and useful method for estimating the age of individual for forensic and criminal reasons by observing these ossification centres. External inspection for age determination is liable to error. This study is thus aimed to assess the variation in age of fusion of ischial tuberosity in Pakistani population. METHODS: It was a cross sectional study, wherein data was retrospectively collected at Bahawalpur Victoria Hospital, a tertiary referral centre in which consecutively selected 47 females and 121 males between 10-24 years of age, attending the outpatient, referred from National Database and Registration Authority for the confirmation of age were selected...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28712787/untethering-physiolysis-for-delta-phalanx-longitudinally-bracketed-diaphysis-combined-with-free-fat-interposition-graft
#8
H-J Lee, P-T Kim, I-H Jeon, M F Deslivia, S-J Lee, H-J Kim, J-P Yoon
We report the results of physiolysis of the epiphyseal bracket combined with free fat grafting for the treatment of delta phalanx. Thirteen cases (five patients) were included. Mean patient age was 6.6years (range, 4-9). The patients underwent physiolysis in which the epiphyseal bracket was cut and replaced with a free fat graft. The angle between the long axis of the proximal and distal phalanges and the ratio between the width and length of the affected middle phalanx were evaluated on plain radiographs. The range of motion in the fingers was also evaluated...
July 13, 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28704305/titanium-mesh-cage-as-an-alternative-reconstruction-method-for-epiphyseal-sparing-tumor-resections-in-children
#9
Ajay Puri
No abstract text is available yet for this article.
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28704298/titanium-mesh-cage-as-an-alternative-reconstruction-method-for-epiphyseal-sparing-tumour-resections-in-children
#10
Mehmet Ayvaz, Senol Bekmez, Altug Yucekul, Musa U Mermerkaya, A Mazhar Tokgozoglu
In this study, we introduced an alternative reconstruction option for epiphysis-sparing tumour resection in children. Eight patients with a malignant tumour in the diaphysis or metaphysis-diaphysis junction of a long bone underwent epiphysis-sparing intercalary resection. Reconstruction was performed using a titanium mesh cage filled with impacted cancellous bone allograft and autograft. A plate and screws were used to supplement the fixation. At the last follow-up, union was achieved in seven patients. Limb-length discrepancy occurred in three patients...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28704296/osteotomy-as-a-treatment-option-in-dysplasia-epiphyseal-hemimelica-of-the-distal-radius-a-case-report
#11
Juan J Dominguez-Amador, Francisco J Cordero-Arriaza, Magdalena Casas-Ruiz, José A Andrés-García
Dysplasia epiphysialis hemimelica (DEH), also known as Trevor disease, is a very rare disease characterized by an overgrowth of the osteocartilaginous epiphyseal caused by unknown factors. The medial side of the epiphysis is affected twice as often as the lateral side and more than one epiphysis was affected in two-thirds of the cases. Only a few cases of DEH in the upper extremities have been published, as the lower limb is usually the most affected, especially in the bones of the ankle joint. The symptoms vary from little significant deformities to symptomatic cases, pain, and decreased function depending on the location and the size of the lesion...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28702703/transfixing-kirshner-wires-for-fixation-of-intertrochanteric-valgus-osteotomies-in-management-of-pediatric-coxa-vara
#12
Ahmed Shawkat Rizk
BACKGROUND: Coxa vara is a radiological term describing a decrease in the neck-shaft angle to 120° or less. Coxa vara is associated with pathomechanical changes that can manifest clinically. If left untreated, coxa vara can affect the normal development of the pediatric hip. Valgus osteotomy is the standard surgical treatment for coxa vara, but there is no consensus regarding the optimal osteotomy technique and fixation method. The work reported here aimed to highlight transfixing wires as a fixation method for valgus osteotomy applied as treatment for various types of pediatric coxa vara...
July 12, 2017: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/28690912/atypical-skeletal-manifestations-of-rickets-in-a-familial-hypocalciuric-hypercalcemia-patient
#13
Bo Wu, Ou Wang, Yan Jiang, Mei Li, Xiaoping Xing, Weibo Xia
Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations...
2017: Bone Research
https://www.readbyqxmd.com/read/28687790/chronic-inflammation-triggered-by-the-nlrp3-inflammasome-in-myeloid-cells-promotes-growth-plate-dysplasia-by-mesenchymal-cells
#14
Chun Wang, Can-Xin Xu, Yael Alippe, Chao Qu, Jianqiu Xiao, Ernestina Schipani, Roberto Civitelli, Yousef Abu-Amer, Gabriel Mbalaviele
Skeletal complications are common features of neonatal-onset multisystem inflammatory disease (NOMID), a disorder caused by NLRP3-activating mutations. NOMID mice in which NLRP3 is activated globally exhibit several characteristics of the human disease, including systemic inflammation and cartilage dysplasia, but the mechanisms of skeletal manifestations remain unknown. In this study, we find that activation of NLRP3 in myeloid cells, but not mesenchymal cells triggers chronic inflammation, which ultimately, causes growth plate and epiphyseal dysplasia in mice...
July 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28685811/homozygosity-for-a-missense-variant-in-comp-gene-associated-with-severe-pseudoachondroplasia
#15
Muhammad Tariq, Tahir Naeem Khan, Lars Lundin, Muhammad Jameel, Torsten Lönnerholm, Shahid Mahmood Baig, Niklas Dahl, Joakim Klar
The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal dysplasia (MED) to pseudoachondroplasia (PSACH). However, the phenotypic effect from biallelic COMP variants is unclear. We investigated a large consanguineous Pakistani family with a severe form of PSACH in two individuals. Another 14 family members presented with a mild PSACH phenotype similar to MED. Using exome sequencing and subsequent segregation analysis, we identified homozygosity for a COMP missense variant (c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28677057/forensic-age-estimation-by-magnetic-resonance-imaging-of-the-knee-the-definite-relevance-in-bony-fusion-of-the-distal-femoral-and-the-proximal-tibial-epiphyses-using-closest-to-bone-t1-tse-sequence
#16
Christian Ottow, Ronald Schulz, Heidi Pfeiffer, Walter Heindel, Andreas Schmeling, Volker Vieth
OBJECTIVES: To clarify the relevance of the bony fusion of the distal femoral and the proximal tibial epiphyses by means of magnetic resonance imaging (MRI), a prospective cross-sectional cohort study was performed with a special focus on a reliable determination of the 14th, 16th and 18th years of life. METHODS: We scanned 658 German volunteers in the age bracket 12-24 years using a 3.0 T MR-scanner and utilising a T1 turbo spin-echo sequence representing true bone anatomy...
July 4, 2017: European Radiology
https://www.readbyqxmd.com/read/28675805/characterization-of-normal-murine-carpal-bone-development-prompts-re-evaluation-of-pathologic-osteolysis-as-the-cause-of-human-carpal-tarsal-osteolysis-disorders
#17
Syndia Lazarus, Hsu-Wen Tseng, Felicity Lawrence, Maria Ann Woodruff, Emma Letitia Duncan, Allison Robyn Pettit
Multicentric carpal-tarsal osteolysis; multicentric osteolysis, nodulosis, and arthropathy; and Winchester syndromes, skeletal dysplasias characterized by carpal/tarsal and epiphyseal abnormalities, are caused by mutations in v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B (MAFB), matrix metalloproteinase 2 (MMP2), and MMP14, respectively; however, the underlying pathophysiology is unclear. Osteoclast-mediated osteolysis has been regarded as the main mechanism, but does not explain the skeletal distribution...
July 1, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#18
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28632661/efficacy-and-limitations-of-conservative-treatment-for-painful-patella-partita-positioning-of-an-ultrasound-accelerated-fracture-healing-apparatus
#19
Natsuki Sugimura, Daisuke Hirose, Koji Aso, Masashi Izumi, Yusuke Okanoue, Kazuo Kitaoka, Masahiko Ikeuchi
OBJECTIVE: Generally, painful patella partita is conservatively treated, but the usefulness of a low-intensity pulsed ultrasound (LIPUS) healing apparatus is unclear. The objective of this study was to investigate the usefulness of LIPUS for conservative treatment of painful patella partita. SUBJECTS AND METHODS: The subjects included 17 patients diagnosed with painful patella partita. The subjects were divided into 2 groups: those without pain at 6 months (responsive group) and those with pain that persisted for 6 months or longer (non-responsive group)...
July 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28630847/hyperplasia-of-lamina-and-spinous-process-of-c5-vertebrae-and-associated-hemivertebra-at-c4-level
#20
Raja Rameez Farooqi, Mufti Mehmood, Hilal A Kotwal
INTRODUCTION: Congenital variants of the cervical spine may mimic traumatic lesions and may cause recurrent episodes of pain. The spectrum of cervical variants includes persistent apophyses of the transverse processes, persistent epiphyses, vertebral platyspondylia, vertebral hypoplasia, and dysplasia of the vertebral arch. Furthermore, abnormalities of the spinous process have been described including doubled spinous processes and hypertrophies. Unilateral hyperplasia of a spinous process is a rare finding that has only been described rarely as case reports...
January 2017: Journal of Orthopaedic Case Reports
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