scholarly journals A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
You Xu ◽  
Xiaoyan Yu ◽  
Mengjie Huang
Keyword(s):  
Bone Density ◽  
Histological Examination ◽  
Novel Mutation ◽  
Osteoclast Formation ◽  
Hematopoietic Progenitor Cell ◽  
X Rays ◽  
Laboratory Findings ◽  
Hematopoietic Stem ◽  
X Ray ◽  
The Right

Abstract Background Osteopetrosis is a rare inherited bone disorder affected individual by osteoclast disfunction and increasing bone density. Surgery was taken for histological examination of the specimen and evidence of malignancy was not found. Finally, X-ray and gene detection lead to the diagnosis. Case presentation We report a 10-year-old girl with two years history of pus rhinorrhea, nasal obstruction and smelly nose. She was diagnosed and treated as sinusitis. But the symptoms were recurrent. Ten months ago, she was afflicted with persistent swelling and broken skin on the right cheek. All the laboratory findings showed normal. During surgery, we resected the right gingiva, the right nasal mucosa and the right facial tissue for biopsies. Histological examination showed proliferation of granulation tissue in chronic inflammatory mucosa. X-rays showed generalized sclerosis. Genetic analysis strongly supported a novel mutation of TNFRSF11A gene which caused osteoporosis. We found a novel mutation of the c.1196C > G (p.S399X) in exon 9 of TNFRSF11A. The TNFRSF11A gene encodes RANK, which is fundamental for osteoclast formation. Conclusion Osteopetrosis is a rare genetic bone disease characterized by increased bone density because of bone resorption failure. Diagnosis is based on X-ray and gene analyze. Osteoclasts are bone-related cells derived from hematopoietic cell lines. Since osteoclasts arise from a hematopoietic progenitor cell of the monocytic lineage, the defect can be corrected by hematopoietic stem cell transplantation (HSCT). Better understanding of this pathological situation and pathogenesis is so important to plan appropriate immunotherapy to benefit.

Breaking the rules? X-ray examination of hematopoietic stem cell grafts at international airports

Blood ◽  
2002 ◽  
Vol 99 (12) ◽  
pp. 4632-4633 ◽  
Author(s):  
Andreas L. Petzer ◽  
Hans-Georg Speth ◽  
Elisabeth Hoflehner ◽  
Johannes Clausen ◽  
David Nachbaur ◽  
...  
Keyword(s):  
Stem Cells ◽  
Stem Cell ◽  
Control System ◽  
Hematopoietic Stem Cells ◽  
Progenitor Cells ◽  
Hematopoietic Stem Cell ◽  
Airport Security ◽  
X Rays ◽  
Hematopoietic Stem ◽  
X Ray

Hematopoietic stem cell grafts from unrelated donors are commonly transported by aircraft. They must not be subjected to x-rays during security checks, which may cause inconvenient discussions between the courier and the airport security staff. We exposed hematopoietic stem cells from mobilized peripheral blood to a widely used x-ray hand-luggage control system. Cell viability as well as growth in vitro of mature progenitor cells (colony-forming cells), primitive progenitor cells (long-term culture-initiating cells), and lymphocytes were not altered even after 10 passages through the hand-luggage control system. Thus, repeated exposure to the low radiation dose of hand-luggage control systems (1.5 ± 0.6 μSv per exposure) seems to be harmless for hematopoietic stem cells, which should simplify the international transport of stem cell grafts.

scholarly journals Extramedullar plasmocytoma of the oral cavity

2020 ◽  
Vol 26 (4) ◽  
pp. 40
Author(s):  
Helen Olugbeje ◽  
Arthur Fourcade
Keyword(s):  
Multiple Myeloma ◽  
Differential Diagnosis ◽  
Oral Cavity ◽  
Histological Examination ◽  
Plasma Cell ◽  
Soft Tissues ◽  
Cell Disease ◽  
X Ray ◽  
The Right

Introduction: Extramedullar plasmocytoma (EMP) is a plasma cell disease, such as solitary plasmocytoma of the bone and multiple myeloma. It is developed in the soft tissues. Observation: A 79-year-old patient consulted for a painful tumefaction of the gum associated to a radiolucent area on the right side of the mandible on the panoramic x-ray. After surgical enucleation, histological examination showed that the diagnosis was either an IgA extramedullar plasmocytoma or a multiple myeloma. The spreading assessment eliminated the diagnosis of multiple myeloma. The patient was then treated with radiotherapy. Discussion: EMP is a rare tumoral disease. Few cases described oral localisation. The main differential diagnosis, that must be excluded is multiple myeloma. Transformation in multiple myeloma exists. The first intention treatment is radiotherapy of the lesion. Conclusion: EMP of the oral cavity is very rare. After treatment, follow-up is required to detect second localisation or progression in multiple myeloma.

scholarly journals Comparative Study between Plain Radiography and Ultrasound Abdomen in Non Traumatic Surgical Acute Abdominal Conditions

2013 ◽  
Vol 2 (2) ◽  
pp. 20-27 ◽  
Author(s):  
Prakash Sharma ◽  
Sidharth ◽  
BP Singh ◽  
D Singh ◽  
A Gupta
Keyword(s):  
Acute Abdomen ◽  
Sensitivity And Specificity ◽  
Diagnostic Yield ◽  
Correct Diagnosis ◽  
Plain Film ◽  
Abdominal Ultrasound ◽  
X Rays ◽  
Laboratory Findings ◽  
X Ray ◽  
Ray Series

Introduction: Acute abdomen might indicate a progressive intra-abdominal condition that is threatening to life or capable of causing severe morbidity. A good history, thorough clinical examination, laboratory investigations and imaging studies is necessary in order to arrive at a correct diagnosis. The aim of our study was to compare the diagnostic yield of traditional three-view abdominal x-ray series (upright chest x-ray, supine and upright abdominal x-rays) with that of ultrasound in patients presenting with non traumatic acute abdominal surgical pain. Methods: This prospective study was conducted between February and July 2010 on 65 consecutive patients. Critically ill patients, pregnant ladies, patient with trauma abdomen, acute abdomen due to gynaecological pathologies were excluded from our study. Detail abdominal ultrasound was done. After ultrasound traditional three-views acute abdominal x-ray series (AAS) were taken. Final diagnosis was made on the basis of operative findings/therapeutic response/ histopathological/ laboratory findings. Finally, accuracy of clinical diagnosis, plain film and ultrasound in evaluation of acute abdomen was determined. Results: Ultrasound yielded an overall sensitivity and specificity of 78.7% and 84.6.6% respectively. The AAS interpretations yielded an overall sensitivity and specificity of 23.4% and 38.40% respectively. Conclusion: Plain x ray is less sensitive in the evaluation of nontraumatic acute abdomen so it should be used together with ultrasound abdomen in order to arrive at a correct diagnosis. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 20-27 DOI: http://dx.doi.org/10.3126/njr.v2i2.7681

scholarly journals Abdominal pain and two x-rays: spot the difference

2012 ◽  
Vol 94 (2) ◽  
pp. e95-e95 ◽  
Author(s):  
Z Rajković ◽  
D Papeš ◽  
S Altarac ◽  
N Arslani
Keyword(s):  
Abdominal Pain ◽  
Portal Vein ◽  
Elective Surgery ◽  
Exploratory Laparotomy ◽  
X Rays ◽  
X Ray ◽  
Artery Embolism ◽  
The Difference ◽  
Bilioenteric Fistula ◽  
The Right

We present two patients with air found in the right upper quadrant on standard abdominal x-ray. One was diagnosed with pneumobilia and underwent elective surgery for a bilioenteric fistula. The other was diagnosed with portal vein gas and underwent an emergency exploratory laparotomy at which a superior mesenteric artery embolism was found. The differential diagnostic criteria for pneumobilia and portal vein gas are described. If portal venous gas is found on x-ray in patients with abdominal pain, it is recommended that management is aggressive, meaning an emergency exploratory laparotomy, because mortality in such cases is approximately 75%.

scholarly journals The management of intra-articular lateral femoral condyle (Hoffa) fracture of the knee using arthroscopy-assisted fixation: a case report

2018 ◽  
Vol 6 (11) ◽  
pp. 3759
Author(s):  
I. G. N. Wien Aryana ◽  
Trimanto Wibowo
Keyword(s):  
Internal Fixation ◽  
Femoral Fracture ◽  
Motor Vehicle ◽  
Lateral Condyle ◽  
X Rays ◽  
Distal Femoral Fracture ◽  
X Ray ◽  
Hoffa Fracture ◽  
Limited Range Of Motion ◽  
The Right

A Hoffa fracture is a type of supracondylar distal femoral fracture with fracture line located in the coronal plane. It is a rare injury consisting of tangential (coronal shear) fracture of distal femoral condyles. Unicondylar knee fractures are rare and present some diagnostic difficulties due to poor visibility on standard X-ray and are especially harder to identify in non-displaced fracture. A fifty-four-year-old male presented to our emergency room with a chief complaint of pain over his right knee that started 10 months prior. He previously was involved in a motor vehicle accident and underwent open reduction and internal fixation with plate and screws. Physical examination revealed swelling and tenderness over the right knee with limited range of motion. Plain X-ray showed union of tibia plateau fracture with plate and screws and no evidence of distal femoral fracture. A magnetic resonance imaging of the right knee was performed and revealed an intraarticular lateral condyle femur fracture with transverse configuration that was previously missed on plain X-ray. Arthroscopy-assisted reduction and internal fixation using antero-posterior and postero-anterior oriented screws were performed and good reduction was achieved. Diagnosis of this type of fracture is challenging and require some experience. Awareness of such entity and strong clinical suspicion are essential for diagnosis because most of the time the standard X-rays may appear normal. Arthroscopy-assisted fracture fixation using antero-posterior and postero-anterior oriented screws for Hoffa fracture offers many advantages and allows for early mobilization postoperatively without any loss of reduction.

scholarly journals Predicting Cementless Stem Fixation in Total Hip Arthroplasty Using Radiodensity Mapping

10.29007/dv5n ◽  
2020 ◽  
Author(s):  
Teja Cherukuri ◽  
Chameka Madurawe ◽  
Jim Pierrepont ◽  
Jonathan Bare ◽  
Stephen McMahon ◽  
...  
Keyword(s):  
Bone Density ◽  
Total Hip Arthroplasty ◽  
Hip Arthroplasty ◽  
Femoral Stem ◽  
X Rays ◽  
Implant Fixation ◽  
X Ray ◽  
Total Hip ◽  
Stem Subsidence

Femoral component loosening due to poor fixation is a common failure mode in cementless total hip arthroplasty (THA). We sought to develop a technique to predicted femoral stem fixation using pre-operative CT.Forty-nine patients requiring THA received pre-operative CTs as part of Corin OPSTM 3D dynamic planning. All patients received a taper wedged blade stem (TriFitTM TS, Corin UK) implanted through a posterior approach. Post-operatively, patients received an immediate CT and AP x-ray and a 1-year follow-up x-ray. The distance between the most superior point of the greater trochanter and the shoulder of the stem was measured and scaled using the known cup diameter on both the immediate and 1- year follow-up x-rays. The difference was recorded as stem subsidence. Subsidence greater than 4mm was deemed clinically relevant. The precise placement of the stem determined by registering the known 3D implant geometry to the post-op CT was virtually implanted back into the pre-operative OPSTM planning software. A colour map of the bone density at the stem/bone interface using the Hounsfield Units (HU) of each CT pixel was generated. Blue represents low density bone transitioning through to green and then red.Mean stem subsidence was 1.8mm (0 to 11.1mm). Five patients had clinically relevant subsidence. Significant areas of blue and green around the proximal portion of the stem was observed in high subsidence stems when compared to the stems with minimal subsidence.Using the HU of the CT scan as an indicator for bone density, we were able to predict poor implant fixation and subsequent subsidence in a taper wedge stem.

scholarly journals Comparison of standard radiography and magnetic resonance imaging in hand osteoarthritis

2021 ◽  
Vol 59 (4) ◽  
pp. 418-425
Author(s):  
D. M. Kudinskii ◽  
A. V. Smirnov ◽  
L. I. Alekseeva ◽  
E. A. Taskina ◽  
A. M. Lila ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Sensitivity And Specificity ◽  
Age Of Onset ◽  
Hand Osteoarthritis ◽  
X Rays ◽  
Resonance Imaging ◽  
X Ray ◽  
Right Hand ◽  
The Right

Standard radiography in direct projection is the “gold standard” in the diagnosis of hand osteoarthritis (HOA). However, the currently clinically most severe “erosive” or “inflammatory” phenotype of HOA is characterized by the presence of inflammatory symptoms such as bone marrow lession (BML), synovitis and tenosinovitis, which are not visible on the radiograph by the nature of the study due to the low optical density. In addition, X-ray examination is planar and has no possibility of multiplanar visualization. This dictated the need to search for a more informative visualization technique in HOA.Aim – to compare the sensitivity and specificity of standard radiography and magnetic resonance imaging (MRI) techniques in determining the symptoms of osteoarthritis (OA) of the distal interphalangeal (DIP), proximal interphalangeal (PIP) and metacarpophalangeal (MCP) joints of the right hand; to determine the indications for the appointment of MRI in patients with HOA.Materials and methods. The study included 64 women with clinically verified diagnosis of HOA according to ask criteria. For the first time, X-rays of the joints of the right hand in the anterior-posterior projection and MRI were performed for each of them. Each patient completed the AUSCAN questionnaire. X-rays were described according to the Kellgren and Lawrence systems, magnetic resonance imaging was analyzed according to the modified OHOA system. The sensitivity and specificity of the methods were compared based on the detection of 4 symptoms detected by radiography and MRI: joint space narrowing (JSN), osteophytes (OP), erosions and subluxations. The average age of the patients was 65.28±6.82 years, the age of onset was 48.81±7.73 years, the duration of the disease was 15.0 (10.0–19.5) years.Results. Both methods showed approximately equal identification JSN symptom in DIP and PIP, 95% definition JSN in MCP. OP were detected in 88% of patients in DIP according to radiography and in 95% – using MRI (p>0.05). In PIP OP were observed in 70% of patients on radiographs and in 86% on magnetic resonance imaging, in MCP – in 45% and 66% of cases, respectively. Erosion in DIP were found in 41% of patients according to MRI and 34% as a result of X-ray examination, in PIP – in 27% and 13% of cases, in MCP – in 60% and 8% of cases, respectively. Subluxations were determined in DIP 23% on radiographs in 31% of cases by MRI, in PIP – in 8% and 6% (p>0.05), in MCP subluxations almost never met – in 3% of cases by conventional radiography.Conclusions. MRI in HOA can be used in the detection of erosive process, differential diagnosis with other diseases of the joints, determination of inflammatory changes in the hands and assessment of their severity, but has no significant advantages over standard radiography in determining the symptoms of degenerative-dystrophic nature (JSN and OP). Subluxations of the MCP joints are not typical for the HOA.

Effects of X-rays on nerve-dependent (limb) and nerve-independent (jaw) regeneration in the adult newt, Notophthalmus viridescens

Development ◽  
1979 ◽  
Vol 53 (1) ◽  
pp. 315-325
Author(s):  
Richard L. Wertz ◽  
Donald J. Donaldson
Keyword(s):  
Histological Examination ◽  
Inhibitory Action ◽  
Notophthalmus Viridescens ◽  
X Rays ◽  
X Ray ◽  
Adult Newt ◽  
X Irradiation ◽  
Left Front ◽  
Newt Limb

The newt limb requires nerves for successful regeneration, but the jaw appears to be nerve independent. Among the current hypotheses for the regeneration-inhibitory action of X-rays is one proposing inactivation of nerves as the main cause. We decided to test this hypothesis by comparing the irradiation levels necessary for inhibition of limb and jaw regeneration. Jaws and left front limbs were exposed locally to doses of ionizing X-irradiation ranging from 250 to 2000 R at least 6 weeks prior to amputation of the jaw and both front limbs. After 90 days post-amputation all surviving animals were examined grossly for signs of regeneration. In addition, some of the controls and most of those receiving 250, 500 and 1000 R were processed for histological examination. All unirradiated limbs and jaws supported regeneration. Those exposed to 250 R also regenerated, but a third of the jaws were hypomorphic. At 500 R and above, neither jaws nor limbs regenerated. Since both systems were affected by similar doses of X-rays, it appears that nerves are not the primary X-ray target in adult newts.

scholarly journals Bone Microarchitecture by Dentistry Digital X-Ray (BµA-DDX) Software: A Pilot Study of the Analysis of Bone Density using Digital Dental X-Rays

2015 ◽  
Vol 6 (2) ◽  
pp. 18-26
Author(s):  
Adriane Yaeko Togashi ◽  
Adair Santa Catarina ◽  
Lucas Renato Piana Batistussi ◽  
Guilherme Coelho
Keyword(s):  
Pilot Study ◽  
Bone Density ◽  
Bone Microarchitecture ◽  
X Rays ◽  
X Ray

scholarly journals Transfer Learning with Deep Convolutional Neural Network (CNN) for Pneumonia Detection Using Chest X-ray

2020 ◽  
Vol 10 (9) ◽  
pp. 3233 ◽  
Author(s):  
Tawsifur Rahman ◽  
Muhammad E. H. Chowdhury ◽  
Amith Khandakar ◽  
Khandaker R. Islam ◽  
Khandaker F. Islam ◽  
...  
Keyword(s):  
Neural Network ◽  
Convolutional Neural Network ◽  
Transfer Learning ◽  
Viral Pneumonia ◽  
Deep Convolutional Neural Network ◽  
X Rays ◽  
X Ray ◽  
Life Threatening ◽  
Chest X Ray ◽  
The Right

Pneumonia is a life-threatening disease, which occurs in the lungs caused by either bacterial or viral infection. It can be life-endangering if not acted upon at the right time and thus the early diagnosis of pneumonia is vital. The paper aims to automatically detect bacterial and viral pneumonia using digital x-ray images. It provides a detailed report on advances in accurate detection of pneumonia and then presents the methodology adopted by the authors. Four different pre-trained deep Convolutional Neural Network (CNN): AlexNet, ResNet18, DenseNet201, and SqueezeNet were used for transfer learning. A total of 5247 chest X-ray images consisting of bacterial, viral, and normal chest x-rays images were preprocessed and trained for the transfer learning-based classification task. In this study, the authors have reported three schemes of classifications: normal vs. pneumonia, bacterial vs. viral pneumonia, and normal, bacterial, and viral pneumonia. The classification accuracy of normal and pneumonia images, bacterial and viral pneumonia images, and normal, bacterial, and viral pneumonia were 98%, 95%, and 93.3%, respectively. This is the highest accuracy, in any scheme, of the accuracies reported in the literature. Therefore, the proposed study can be useful in more quickly diagnosing pneumonia by the radiologist and can help in the fast airport screening of pneumonia patients.

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