P096 Munchmeyer's disease: an unknown pathology

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Amina Chentouf ◽  
Souad Daoud

Abstract Background Munchmeyer's disease (MM) or Fibrodysplasia ossificans progressivais an extremely rare genetic disorder characterized by heterotopic ossification of muscle and connective tissue during flare-ups, which can lead to the creation of a true second skeleton. we report an original observation with diagnostic difficulty. Observation We report the case of 37-year-old women who consulted for cervical stiffness with painful hypertrophy of the left sternocleidomastoid muscle, dorsal scoliosis, tendon retractions in limbs with a semi-flexion attitude. In addition, she presented a deformity of the forefoot with hallux valgus and a triangular shape. X-ray of the right arm showed ossification of the biceps brachii and that of the foot showed interphalangeal ankyloses with agenesis of a phalanx of the big toe. X-rays of the cervical spine revealed posterior arch ankyloses with fusion of some vertebrae. Despite the late onset of symptoms, the diagnosis of MM was suggested and confirmed by a genetic study which revealed a heterozygous c.617G> A [p. Arg206His] mutation, located in exon 6 of the gene. Conclusion MM is an extremely rare but disabling condition. It should be considered in unexplained muscle enlargement occurring at any age particularly if associated with congenital malformations of the Hallux. The discovery of the ACVR1 gene mutation offers hope for the development of therapies for this hitherto incurable disease.

2012 ◽  
Vol 94 (2) ◽  
pp. e95-e95 ◽  
Author(s):  
Z Rajković ◽  
D Papeš ◽  
S Altarac ◽  
N Arslani

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%.


Author(s):  
I. G. N. Wien Aryana ◽  
Trimanto Wibowo

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.


2021 ◽  
Vol 59 (4) ◽  
pp. 418-425
Author(s):  
D. M. Kudinskii ◽  
A. V. Smirnov ◽  
L. I. Alekseeva ◽  
E. A. Taskina ◽  
A. M. Lila ◽  
...  

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.


2020 ◽  
Vol 10 (9) ◽  
pp. 3233 ◽  
Author(s):  
Tawsifur Rahman ◽  
Muhammad E. H. Chowdhury ◽  
Amith Khandakar ◽  
Khandaker R. Islam ◽  
Khandaker F. Islam ◽  
...  

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.


BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
You Xu ◽  
Xiaoyan Yu ◽  
Mengjie Huang

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.


Crystals ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1389
Author(s):  
Ksenia Kozlovskaya ◽  
Elena Ovchinnikova ◽  
Jun Kokubun ◽  
Andrei Rogalev ◽  
Fabrice Wilhelm ◽  
...  

We propose a new method to determine the absolute structure of chiral crystals, which is based on the chiral asymmetry of multiple scattering diffraction. It manifests as a difference in the azimuthal dependence of the forbidden Bragg reflection intensity measured with left and right circularly polarized X-ray beams. Contrary to the existing ones, the suggested method does not use X-ray anomalous dispersion. The difference between the Renninger scans with circularly polarized X-rays has been experimentally demonstrated for the 001 reflection intensities in the right- and left-handed quartz single crystals. A Jmulti-based code on model-independent three-wave-diffraction approach has been developed for quantitative description of our experimental results. The proposed method can be applied to various structures including opaque, organic and monoatomic crystals, even with only light elements. To determine the type of isomer, the Renninger plot of a single forbidden reflection is sufficient.


It is of great importance, for scientific reasons and for the more limited purpose of safeguarding against possible dangers in X-ray therapy, to discover whether there may be conditions which facilitate the production of tumours by X -rays. Some light has already been thrown on this problem. Lacassagne and Vinzent (1929) (1933) caused inflammation in the groins of rabbits by the subcutaneous injection of Streptococcus caviae . The lesions in some of these rabbits were submitted to X-radiation, the dose in each instance being about 600 r. Such doses had a beneficial effect on the infective lesions, but sarcomas developed in five of the twelve survivors at the sites of irradiation. In a later experiment non-infected inflammatory lesions, produced in rabbits by the subcutaneous injection of sterile diatomaceous earth, were exposed to X-rays, the dose being 600 r. as before. Two of these rabbits, at the end of 22 and 34 months respectively, were dead with malignant tumours at the site of irradiation (Lacassagne 1933). Similar doses of X-rays given to rabbits in the absence of inflammatory lesions did not induce tumour formation (Lacassagne 1936). Since a total of 600 r. is well within the limit of dosage used for therapeutic purposes in man, it seemed desirable to carry out further experiments of this nature. Experimental Technique Non-infective foci of inflammation were caused in twelve young adult rabbits as follows: 3 c. c. of olive oil containing 10% of finely powdered silica were injected subcutaneously in the right groins. Four days later, as no distinct swellings were present, the injections were repeated, 2% of oleic acid having been added to the olive oil. On the following day 7 c. c. of a suspension of kaolin (10% in water) were injected into the same sites. Three days later obvious swellings were present. Each rabbit was anaesthetized with “Evipan” and the swollen tissues were exposed to a single dose of 600 r., the rest of the rabbit being protected by a shield of lead. The conditions of irradiation were— 250 kV, 4 mA, filter 0·5 mm. Cu, time approximately 23 min.


2011 ◽  
Vol 96 (4) ◽  
pp. 281-285 ◽  
Author(s):  
Hiroyoshi Matsuoka ◽  
Koutarou Maeda ◽  
Hidetoshi Katsuno ◽  
Akira Tsunoda ◽  
Keiji Koda ◽  
...  

Abstract Postoperative gastrointestinal bowel transit right after colorectal resection has not yet been clarified. Thirty patients with rectosigmoid cancer were treated in this pilot study. The nasogastric tube was removed on the first postoperative day. One Sitzmarks capsule was given to each patient on the second postoperative day. Abdominal X-rays were taken at 3, 6, 8, 24, 48, and 72 hours after capsule intake. Distribution of the remaining Sitzmarks capsules were counted on X-ray films to clarify postoperative gastrointestinal movement after bowel resection. All Sitzmarks capsules were observed in the stomach at 3 and 6 hours after capsule intake. At 8 hours (second postoperative day), the Sitzmarks capsules were distributed from the stomach to the small intestine. Sitzmarks capsules were distributed in the right side colon at 24 hours (third postoperative day) after intake. Although the main distribution was still in the right side colon, several patients had evacuations accompanied by the disappearance of the Sitzmarks capsules. In 50% of the patients, it took approximately 72 hours (fifth postoperative day) for the first defecation after intake of the capsules. However, the Sitzmarks capsules remained mainly in the right side colon. Eight hours after intake, the majority of the Sitzmarks capsules shifted to the small intestine. Therefore, medication or feeding should be safely possible starting on the second postoperative day. There was no particular impact of bowel resection on upper gastrointestinal transit in patients with rectosigmoid cancer.


The technique of sterilising one ovary and allowing the other ovary to remain untreated was originally evolved (Parkes, 8) in order to make possible the accurate study of the rôle of the corpus luteum during pregnancy and lactation. Early in the experiments, however, it was noticed that litters from such unilaterally sterilised mice approximated closely to the normal size. It was later found that, with one ovary sterilised by X-rays, the other ovary undergoes true compensatory hypertrophy, such as has been observed by many authors to follow unilateral or sub-total ovariotomy (1, 4, 5, 6). Since the facts appeared to be of interest from the point of view of the mechanism of compensatory hypertrophy, the experiments on the corpus luteum were so arranged as to permit of collecting the data required to demonstrate hypertrophy of the reamining ovary. II.— Methods and Material . Sterilisation Technique .—The method of carrying out these unilateral irradiations has been described elsewhere (Parkes, 8) and it need only be said here that irradiation took place at 4 weeks old, and that in every case the right ovary was exposed, while the left was protected.


Sign in / Sign up

Export Citation Format

Share Document