Diagnostic Reliability of Plain Radiography in Osteonecrosis of the Femoral Head: General Radiological Features Revised.

BACKGROUND AND OBJECTIVES: Osteonecrosis of the femoral head (ONFH) is an incapacitating disease that frequently results in the collapse of the femoral head and secondary osteoarthritis. The diagnosis and staging of this pathology, which usually rely on imaging studies, are challenging. Currently, conventional radiography is the basis of the initial diagnostic assessment. In recent decades, however, radiographs have been considered insensitive to early changes in ONFH and thus, a suboptimal diagnostic tool. Paradoxically, the imaging features of radiographs are often profuse, substantial, and characteristic. This study aimed to elucidate the real limitations of this radiologic tool by assessing the diagnostic reliability of the key radiologic features and staging. METHODS: This was a retrospective study in which radiographs from 28 idiopathic ONFH confirmed cases who underwent hip arthroplasty were analyzed by eight observers who were asked to identify the presence or absence of ONFH universally reported imaging features in AP hip radiographs. RESULTS: Concordance analysis revealed a poor agreement between observers for most of the assessed imaging features. Only the identification of femoral head flattening and osteoarthritis signs exhibited moderate agreement with statistical significance. In contrast, the detection of radiological osteoporosis and the loss of trabeculation showed the lowest reliability, with negative kappa coefficients. CONCLUSION: There is a lack of agreement between qualified observers, even for the identification of the most characteristic ONFH radiographic feature. The reliability of plain radiography for the detection of basic radiological elements is even weaker in the early stages of the disease.

Osteonecrosis of the Femoral Head: A Multidisciplinary Approach in Diagnostic Accuracy.

Osteonecrosis of the Femoral Head (ONFH) is a disabling disease affecting up to 30,000 people yearly in the United States alone. Diagnosis and staging of this pathology are both technically and logistically challenging, usually relying on imaging studies. Even anatomopathological studies, considered the gold standard for identifying ONFH, are not exempt from problems. In addition, the diagnosis is often made by different healthcare specialists, including orthopedic surgeons and radiologists, using different imaging modes, macroscopic features, and stages. Therefore, it is not infrequent to find disagreements between different specialists. The aim of this paper is to clarify the association and accuracy of ONFH diagnosis between healthcare professionals. To this end, femoral head specimens from patients with a diagnosis of ONFH were collected from patients undergoing hip replacement surgery. These samples were later histologically analyzed to establish an ONFH diagnosis. We found that clinico-radiological diagnosis of ONFH evidences a high degree of histological confirmation, thus showing an acceptable diagnostic accuracy. However, when the diagnoses of radiologists and orthopedic surgeons are compared with each other, there is only a moderate agreement. Our results underscore the need to develop an effective diagnosis based on a multidisciplinary approach to enhance currently limited accuracy and reliability.

Clonal Evolution in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System.

Primary diffuse large B-cell lymphoma (DLBCL) of the central nervous system (CNS) is an aggressive subtype of DLBCL with characteristic clinicopathologic features. Relapse outside the CNS involving extranodal locations has been found in a fraction of cases (16%). Here we describe a case of DLBCL arising in the CNS that relapsed 18 months after the initial diagnosis in the testis and bilateral adrenal glands. Both tumors showed equivalent morphology, phenotype, cytogenetic features, and clonal relationship. Somatic mutation analysis by next generation sequencing demonstrated MYD88L265P mutation in both tumors and de novo CD79B Y196S mutation exclusive to the relapse. The pattern of mutations suggest that the 2 tumors might have evolved from a common progenitor clone with MYD88L265P being the founder mutation. A meta-analysis of the literature shows a significantly high frequency of concurrent MYD88L265P and CD79B ITAM mutations in primary CNS lymphoma and testicular DLBCL, underscoring the role of B cell receptor and nuclear factor kB activation by somatic mutations in these lymphomas that colonize immune-privileged sites. In summary, here we illustrate that targeted next generation sequencing for the detection of hot spot somatic mutations in relapsed DLBCL is useful to confirm ABC phenotype and discovers relevant information that might influence therapeutic decision.

Lymphocyte-rich capillary-cavernous hemangioma of the mitral valve: a case report and review of the literature.

Valvular hemangioma incidence is extremely low. In this report, we describe a 62-year-old man who presented with mild edema of the lower limbs. An echocardiogram revealed an incidental 1.3-cm diameter mass on the anterior mitral valve leaflet for which he underwent surgical resection and mitral valve replacement. Histopathological examination showed a lymphocyte-rich capillary-cavernous hemangioma. The exuberant lymphoid stroma is unusual for hemangioma and represents an undescribed pattern of cardiac hemangioma. Including the present report, only 13 cases of mitral valve hemangioma have been reported to date. Most patients are adult. Mitral hemangioma originates in the atrial aspect of the valve and involves more commonly the anterior leaflet. The average maximum diameter of the lesion is 1.7 (S.D.=0.75) cm. Pure cavernous hemangioma is the predominant type of mitral hemangioma. Most of them are described as pedunculated or polypoid. Surgical excision appears to be curative. Recurrences have not been reported. Lymphocyte-rich cardiac hemangioma represents a peculiar type of hemangioma which should be included in the differential diagnosis of other vascular lesions.

Extracutaneous intravascular histiocytosis of the aortic valve: Report of two cases.

Intravascular histiocytosis (IVH) is a rare condition of uncertain pathogenesis often associated with rheumatoid arthritis (RA) exclusively observed in the skin. In a retrospective study of 207 consecutive cases of aortic valve disease, we observed two cases of IVH characterized by the presence of thin-walled, dilated blood vessels containing collections of CD68+ and CD163+ mononuclear histiocytes. Immunostains for CD31, CD34, and D2-40 confirmed the intravascular location of these histiocytes. One of the two cases was associated with RA. This case was observed among 41 cases of RA with calcific aortic valve stenosis. The other case was detected among 152 cases of calcific aortic valve stenosis in isolation. A total of 14 valves showed no calcification. IVH can manifest in the aortic valve and be associated with systemic disease. In contrast to other cases, the vessels observed in this study exhibited negative expression of the lymphatic marker D2-40. Our findings expand on the previously described location features of IVH.

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations.

BACKGROUND AND OBJECTIVES: The objective of this study was to assess the presence of autonomic nervous system dysfunction in PARK2 mutation carriers. PATIENTS AND METHODS: We performed a cross-sectional analysis of 8 PARK2 carriers (age: 60.1 ± 12.8 years) and 13 individuals with idiopathic PD (iPD) (age: 59.2 ± 8.9 years). Autonomic dysfunction was measured using the SCOPA-AUT questionnaire, non-invasive autonomic tests and responses of noradrenaline and vasopressin levels to postural changes. Myocardial sympathetic denervation was assessed with metaiodobenzylguanidine (MIBG) scintigraphy. This damage was further investigated in postmortem epicardial tissue of one PARK2 carrier and three control cases (two PD patients and one subject without PD). RESULTS: The prevalence of autonomic symptoms and orthostatic hypotension (OH) was lower in PARK2 mutation carriers than in iPD patients (SCOPA OUT: 3.4 ± 4.8 vs. 14.7 ± 7.2, p < 0.001; OH: present in three iPD patients but none of the PARK2 mutation carriers). Second, sympathetic myocardial denervation was less severe in PARK2 mutation carriers compared to controls, both in MIBG scintigraphy (late H/M uptake ratio: 1.52 ± 0.35 vs. 1.32 ± 0.25 p < 0.05) and in postmortem tissue study. Interestingly, axonal alpha-synuclein deposits were absent in epicardial tissue of the PARK2 mutation carrier while they were present in the two PD patients. INTERPRETATION: Our study supports the view that autonomic nervous system dysfunction and myocardial sympathetic denervation are less pronounced in PARK2 mutation carriers than in individuals with iPD, suggesting that the involvement of small peripheral sympathetic nerve fibers is a minor pathological hallmark in PARK2 carriers.

Spinal nerve involvement in early Guillain-Barré syndrome: a clinico-electrophysiological, ultrasonographic and pathological study.

OBJECTIVE: Although prevailing spinal nerve involvement has been recognized in a few detailed Guillain-Barré syndrome (GBS) autopsy reports, imaging studies addressing this question in cervical nerves are lacking. METHODS: We describe clinical, electrophysiological, ultrasonographic (US) and pathological findings in six consecutive early GBS patients, evaluated within 10 days of onset. RESULTS: Patients' ages ranged from 37 to 80 years. Five patients required mechanical ventilation, two of them having died 9 and 28 days after onset. Upper- and lower-limb nerve US showed abnormal findings in just 8.8% of scanned peripheral nerves. In comparison with 46 aged-matched control subjects, US of the fifth to seventh cervical nerves showed changes in four cases, which consisted of significant nerve enlargement, blurred boundaries of the corresponding ventral rami, or both. Autopsy study in one case demonstrated that pathology, consisting of demyelination and endoneurial inflammatory oedema, mainly involved cervical and lumbar nerves. CONCLUSIONS: In early GBS inflammatory oedema of spinal nerves is a pathogenically relevant feature to understanding the mechanism of ascending paralysis, particularly when conventional electrophysiological studies are normal or not diagnostic. SIGNIFICANCE: Findings advocate the use of cervical nerve US in early GBS.