Indocyanine Green Angiography Findings in Acute Retinal Necrosis Syndrome.

BACKGROUND: Acute retinal necrosis syndrome is clinically defined by the presence of peripheral necrotizing retinitis associated with severe occlusive vasculitis caused primarily by herpes simplex virus and varicella zoster virus. Previously considered as an exclusively retinal pathology, choroidal involvement, as demonstrated by indocyanine green angiography, has not been extensively studied. HISTORY AND SIGNS: Indocyanine green angiography was performed in 4 patients with ARN. Observed angiographic patterns included: 1. a characteristic triangular area of hypo-perfusion, 2. hypofluorescent lobular patches and areas of fuzzy choroidal vascular hyperfluorescence, and 3. isolated hypofluorescent lobular patches of the contralateral eye. THERAPY AND OUTCOME: Marked choroidal hypo-perfusion on indocyanine green angiography was associated with extensive retinal ischemia. Treatment included a combination of antiviral agents and corticosteroids complemented by prophylactic acetylsalicylate. CONCLUSION: Indocyanine green angiography may provide important information regarding choroidal vascular involvement in ARN. It may also permit the timely identification of sub-clinical contralateral eye involvement.

Atypical association of semantic dementia, corticobasal syndrome, and 4R tauopathy.

A 57-year-old male with no family history was diagnosed with semantic dementia. He also showed some unusual cognitive features such as episodic memory and executive dysfunctions, spatial disorientation, and dyscalculia. Rapidly progressive cognitive and physical decline occurred. About 1.5 years later, he developed clinical features of a corticobasal syndrome. He died at the age of 60. Brain autopsy revealed numerous 4R-tau-positive lesions in the frontal, parietal and temporal lobes, basal ganglia, and brainstem. Neuronal loss was severe in the temporal cortex. Such association of semantic dementia with tauopathy and corticobasal syndrome is highly unusual. These findings are discussed in the light of current knowledge about frontotemporal lobar degeneration.

High-mobility group box-1 protein determination in postmortem samples.

The aims of this study were to assess whether high-mobility group box-1 protein can be determined in biological fluids collected during autopsy and evaluate the diagnostic potential of high-mobility group box-1 protein in identifying sepsis-related deaths. High-mobility group box-1 protein was measured in serum collected during hospitalization as well as in undiluted and diluted postmortem serum and pericardial fluid collected during autopsy in a group of sepsis-related deaths and control cases with noninfectious causes of death. Inclusion criteria consisted of full biological sample availability and postmortem interval not exceeding 6h. The preliminary results indicate that high-mobility group box-1 protein levels markedly increase after death. Concentrations beyond the upper limit of the calibration curve were obtained in undiluted postmortem serum in septic and traumatic control cases. In pericardial fluid, concentrations beyond the upper limit of the calibration curve were found in all cases. These findings suggest that the diagnostic potential of high-mobility group box-1 protein in the postmortem setting is extremely limited due to molecule release into the bloodstream after death, rendering antemortem levels difficult or impossible to estimate even after sample dilution.

Alveolar echinococcosis of the liver: diffusionweighted MR imaging findings

Purpose: To report the diffusion-weighted MR imaging (DWI) findings in hepatic alveolar echinococcosis (AE). To evaluate the usefulness of apparent diffusion coefficients (ADCs) for differentiating the 5 types of AE lesions (as reported by Kodama, Radiology, 2003).Methods and Materials: We retrospectively included 17 patients (10 women, mean age 64.3years) with 48 AE liver lesions (>1cm2) that had been investigated by 3-Tesla MR imaging between March 2008 and August 2011 performing our standard protocol including DWI (b-values: 0, 300 and 600s/mm2). In consensus, two radiologists assessed lesion characteristics such as diameter, cystic and/or fibrotic components including Kodama classification, signal intensity, contrast enhancement, calcifications (on CT), and measured the ADC of each lesion. AE was confirmed by serology, biopsy and/or surgery in all patients.Results: Seventeen lesions of Kodama type 1, 10 of type 2, 19 of type 3, 1 of type 4 and 1 of type 5 were found. Mean(±SD) ADC of all AE lesions was 1.75±0.45 ×10-3mm2/s. Mean(±SD) ADCs of Kodama type 1, 2, 3, 4 and 5 lesions were 1.74±0.55, 1.71±0.49, 1.82±0.36, 1.46±0 and 1.43±0 ×10-3mm2/s, respectively. No significant difference was noted between the different Kodama types (p=0.89). Presence of fibrotic (p=0.24) and/or calcified (p=0.90) components, or contrast enhancement (p=0.84) of AE lesions were not correlated with significant differences in ADCs.Conclusion: ADCs of AE lesions are relatively low compared to other cystic liver lesions, which is helpful in suggesting the diagnosis. However, ADCs were not found to be useful for differentiating Kodama types of AE lesions.

Solid pseudopapillary tumor of the pancreas in children: typical radiological findings and pathological correlation.

We report a case series of three children with solid pseudopapillary tumor of the pancreas (SPT) in which a complete radiological work-up, including ultrasound, computed tomography scans, and MRI, has been carried out. The aim of this article is to highlight the characteristic imaging findings of SPT in the pediatric age group and to establish a correlation with typical histopathological findings of the lesion.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological findings frequently feature central cores or multi-minicores, more rarely, type 1 predominance/uniformity, fiber-type disproportion, increased internal nucleation, and fatty and connective tissue. We describe 71 families, 35 associated with dominant RYR1 mutations and 36 with recessive inheritance. Five of the dominant mutations and 35 of the 55 recessive mutations have not been previously reported. Dominant mutations, typically missense, were frequently located in recognized mutational hotspot regions, while recessive mutations were distributed throughout the entire coding sequence. Recessive mutations included nonsense and splice mutations expected to result in reduced RyR1 protein. There was wide clinical variability. As a group, dominant mutations were associated with milder phenotypes; patients with recessive inheritance had earlier onset, more weakness, and functional limitations. Extraocular and bulbar muscle involvement was almost exclusively observed in the recessive group. In conclusion, our study reports a large number of novel RYR1 mutations and indicates that recessive variants are at least as frequent as the dominant ones. Assigning pathogenicity to novel mutations is often difficult, and interpretation of genetic results in the context of clinical, histological, and muscle magnetic resonance imaging findings is essential.

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

OBJECTIVES: The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH). METHODS: A retrospective review of three fetuses with confirmed DD-SH was conducted. The fetal ultrasound findings, the radiological characteristics, and the results of the mutation analysis of the heparan sulphate perlecan gene 2 (HSPG2) were reviewed. RESULTS: There were three cases in two families with DD-SH diagnosed prenatally. The main prenatal ultrasound and the radiological features of DD-SH were severe limb shortening and vertebral segmentation and fusion defects (anisospondyly). The DNA analysis of the HSPG2 gene showed that the two affected fetuses in a nonconsanguineous family had a compound heterozygote for the c.646G > T transversion in exon 7 and a c.5788C > T transition in exon 46. The fetus born to the consanguineous couple had a homozygous mutation c.1356-27_1507 + 59del. CONCLUSION: DD-SH can be diagnosed prenatally using fetal ultrasound as early as 13 weeks. Xrays and DNA analysis of the HSPG2 gene are important for the confirmation of the diagnosis and for the preimplantation and prenatal diagnosis in pregnancies at risk. © 2013 John Wiley & Sons, Ltd.

Assessment of airborne microorganisms by real-time PCR: optimistic findings and research challenges

Most airborne microorganisms are natural components of our ecosystem. Soil, vegetation and animals, including humans, are sources for aerial release of these living or dead cells. In the past, assessment of airborne microorganisms was mainly restricted to occupational health concerns. Indeed, in several occupations, exposure to very high concentrations of non-infectious airborne bacteria and fungi, result in allergenic, toxic or irritant reactions. Recently, the threat of bioterrorism and pandemics have highlighted the urgent need to increase knowledge of bioaerosol ecology. More fundamentally, airborne bacterial and fungal communities begin to draw much more consideration from environmental microbiologists, who have neglected this area for a long time. This increased interest of scientists is to a great part due to the development and use of real-time PCR techniques to identify and quantify airborne microorganisms. Even if the advantages of the PCR technology are obvious, researchers are confronted with new problems. This review describes the methodological state of the art in bioaerosols field and emphasizes the future challenges and perspectives of the real-time PCR-based methods for airborne microorganism studies.

Dorsal fractures of the triquetrum: MRI findings with an emphasis on dorsal carpal ligament injuries.

OBJECTIVE: The objective of our study was to report the MRI findings in dorsal fractures of the triquetrum, with an emphasis on dorsal carpal ligament injuries. MATERIALS AND METHODS: A total of 21 patients (16 men, five women; mean age, 41.9 years) with acute or subacute (≤ 6 weeks) dorsal triquetral fractures on radiography and MRI were included in this two-center retrospective study. MRI of the wrist was performed on 3-T units with transverse T1-weighted, coronal or transverse (or both) fat-suppressed T2weighted, transverse gadolinium-enhanced fat-suppressed T1-weighted turbo spin-echo, and 3D gadolinium-enhanced fat-suppressed T1-weighted gradient-recalled echo sequences. Three musculoskeletal radiologists evaluated the ulnar styloid process index (USPI) on radiographs and the following MRI features: fracture pattern (types 1-6), bone fragment size and displacement, bone marrow edema distribution, and dorsal carpal ligament tears. RESULTS: Eight type 1, one type 2, six type 3, five type 4, and one type 5 fractures were identified. These fractures were associated with 14 (66.7%), 17 (81.0%), and 16 (76.2%) tears of the dorsal radiocarpal, ulnotriquetral, and intercarpal ligaments, respectively. There was no correlation between bone marrow edema distribution and dorsal carpal ligament injuries (all p > 0.05). The mean (± SD) bone fragment volume and displacement were 205 ± 157 mm(3) and 1.0 ± 1.1 mm, respectively. The mean USPI was 0.21 ± 0.10. CONCLUSION: Dorsal fractures of the triquetrum are frequently associated with dorsal carpal ligament injuries. Bone marrow edema distribution is not correlated with these ligament tears.

Primary motor cortex involvement in Alzheimer disease.

In Alzheimer disease (AD) the involvement of entorhinal cortex, hippocampus, and associative cortical areas is well established. Regarding the involvement of the primary motor cortex the reported data are contradictory. In order to determine whether the primary motor cortex is involved in AD, the brains of 29 autopsy cases were studied, including, 17 cases with severe cortical AD-type changes with definite diagnoses of AD, 7 age-matched cases with discrete to moderate cortical AD-type changes, and 5 control cases without any AD-type cortical changes. Morphometric analysis of the cortical surface occupied by senile plaques (SPs) on beta-amyloid-immunostained sections and quantitative analysis of neurofibrillary tangles (NFTs) on Gallyas-stained sections was performed in 5 different cortical areas including the primary motor cortex. The percentage of cortical surface occupied by SPs was similar in all cortical areas, without significant difference and corresponded to 16.7% in entorhinal cortex, 21.3% in frontal associative, 16% in parietal associative, and 15.8% in primary motor cortex. The number of NFTs in the entorhinal cortex was significantly higher (41 per 0.4 mm2), compared with those in other cortical areas (20.5 in frontal, 17.9 in parietal and 11.5 in the primary motor cortex). Our findings indicate that the primary motor cortex is significantly involved in AD and suggest the appearance of motor dysfunction in late and terminal stages of the disease.

A case of suicide by ingestion of caffeine

Summary Intentional or unintentional caffeine abuse due to excessive intake of beverages or energy drinks containing caffeine is relatively frequent. However, death due to caffeine intoxication is rare and case reports of fatalities from caffeine toxicity are relatively infrequent. In this report, we describe an autopsy case involving a 31 year-old man who intentionally took a large amount of caffeine tablets in the form of a weight loss supplement as part of a suicide plan. Caffeine femoral blood concentration (170 mg/l) was within the toxic and potentially lethal ranges reported in the literature in similar cases. Postmortem biochemistry results suggested depressed glomerular filtration rate and prerenal failure at the time of death and failed to reveal myoglobinuria, glycosuria, ketonuria or ketonemia. Based on the absence of pathological findings at autopsy and the high blood caffeine level, death was attributed to acute caffeine toxicity. The case emphasizes the usefulness of performing exhaustive toxicology and searching for all potentially relevant information in order to formulate appropriate hypotheses concerning the cause and manner of death.

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant. They are characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, we report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.

Pathologies mimicking deep venous thrombosis of the legs: pictorial review of US findings : P27

Purpose: Precise diagnosis of DVT of the legs is a challenging problem, not only in front of suspicion of PE, but also in all status of leg pain, warmth and swelling. Clinical diagnosis has a low accuracy and further investigations are mandatory in order to diagnose DVT. Amongst the possible investigations, US has a high specificity and a good NPV. However, many pathologies unrelated to the veins may mimic the signs and symptoms of DVT and have to be recognized in order to make the correct diagnosis. The purpose of this paper is to review the results of the US investigations of the legs performed in our Department during the last three years for a suspicion of DVT and describe alternative diagnoses mimicking DVT. Methods and materials: Through a RIS-based search, we retrospectively reviewed all the cases of US of the legs performed in our Department between January 2006 and December 2008 for a suspicion of DVT. We selected the cases of positive findings unrelated to the veins and illustrated these findings with characteristic images. Results: 419 US of the legs were performed between December 2006 and December 2008 for a suspicion of DVT. Among these, 75 were positive for DVT, and 79 for alternative diagnosis. The most common alternative diagnosis was edema of the legs (31%), followed by hematoma (23%). Other findings were Baker cysts (13%), cellulitis (10%) and lymphoceles (5%). Rare diagnoses were arterio-venous malformations, pseudoaneurysms, pelvic masses, necrosing fasciitis, intramuscular abscesses, subcutaneous seromas, sarcoma and ganglion cysts. Conclusion: A greater knowledge of the US appearance of the pathologies mimicking DVT may help to make the correct diagnosis, avoiding further expensive investigations or inappropriate anticoagulant therapy.

Positive EtG findings in hair as a result of a cosmetic treatment.

In a case of a driving ability assessment, hair analysis for ethyl glucuronide (EtG) was requested by the authorities. The person concerned denied alcohol consumption and did not present any clinical sign of alcoholism. However, EtG was found in concentrations of up to 910pg/mg in hair from different sampling dates suggesting an excessive drinking behavior. The person declared to use a hair lotion on a regularly base. To evaluate a possible effect of the hair lotion, prospective blood and urine controls as well as hair sampling of scalp and pubic hair were performed. The traditional clinical biomarkers of ethanol consumption, CDT and GGT, were inconspicuous in three blood samples taken. EtG was not detected in all collected urine samples. The hair lotion was transmitted to our laboratory. The ethanol concentration in this lotion was determined with 35g/L. The EtG immunoassay gave a positive result indicating EtG, which could be confirmed by GC-MS/MS-NCI. In a follow-up experiment the lotion was applied to the hair of a volunteer over a period of six weeks. After this treatment, EtG could be measured in the hair at a concentration of 72pg/mg suggesting chronic and excessive alcohol consumption. Overnight incubation of EtG free hair in the lotion yielded an EtG concentration of 140pg/mg. In the present case, the positive EtG hair findings could be interpreted as the result of an EtG containing hair care product. To our knowledge, the existence of such a product has not yet been reported, and it is exceptionally unusual to find EtG in cosmetics. Therefore, external sources for hair contamination should always be taken into account when unusual cosmetic treatment is mentioned. In those cases, it is recommended to analyze the hair product for a possible contamination with EtG. The analysis of body hair can help to reveal problems occurring from cosmetic treatment of head hair. As a consequence, the assessment of drinking behavior should be based on more than one diagnostic parameter.