Nodular reverse halo sign in active pulmonary tuberculosis: A rare CT feature?

PURPOSE: The purpose of this study was to investigate the prevalence of the nodular reverse halo sign (NRHS) in chest computed tomography (CT) in patients with active pulmonary tuberculosis. MATERIALS AND METHODS: From March 2018 to March 2019, 29 consecutive patients with a culture-confirmed active pulmonary tuberculosis and who underwent chest CT examination during hospital-admission were retrospectively included in the study. There were 24 men and 5 women with a mean age of 40.9±16.7 (SD) years (range: 18-80years). Chest CT examinations of included patients were evaluated for the presence of NRHS and other tuberculosis-related CT signs. RESULTS: CT revealed the NRHS in 5 patients (5/29; 17%). The other CT signs of tuberculosis included consolidations in 18 patients (18/29; 62%), tree-in-bud pattern in 14 patients (14/29; 48%), cavitation in 12 patients (12/29; 41%), sparse nodules in 10 patients (10/29; 34%), and pleural effusion in 8 patients (8/29; 28%). CONCLUSION: CT shows NRHS in 17% of patients with active pulmonary tuberculosis, indicating that the sign is not as rare as previously thought in patients with this condition.

Static end-expiratory and dynamic forced expiratory tracheal collapse in COPD.

AIM: To determine the range of tracheal collapse at end-expiration among chronic obstructive pulmonary disease (COPD) patients and to compare the extent of tracheal collapse between static end-expiratory and dynamic forced-expiratory multidetector-row computed tomography (MDCT). MATERIALS AND METHODS: After institutional review board approval and obtaining informed consent, 67 patients meeting the National Heart, Lung, and Blood Institute (NHLBI)/World Health Organization (WHO) Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria for COPD were sequentially imaged using a 64-detector-row CT machine at end-inspiration, during forced expiration, and at end-expiration. Standardized respiratory coaching and spirometric monitoring were employed. Mean percentage tracheal collapse at end-expiration and forced expiration were compared using correlation analysis, and the power of end-expiratory cross-sectional area to predict excessive forced-expiratory tracheal collapse was computed following construction of receiver operating characteristic (ROC) curves. RESULTS: Mean percentage expiratory collapse among COPD patients was 17 ± 18% at end-expiration compared to 62 ± 16% during forced expiration. Over the observed range of end-expiratory tracheal collapse (approximately 10-50%), the positive predictive value of end-expiratory collapse to predict excessive (≥80%) forced expiratory tracheal collapse was <0.3. CONCLUSION: COPD patients demonstrate a wide range of end-expiratory tracheal collapse. The magnitude of static end-expiratory tracheal collapse does not predict excessive dynamic expiratory tracheal collapse.

Subcarinal collection following mediastinoscopy: a normal post-procedural CT finding.

AIM: To determine the frequency with which a subcarinal collection is present at computed tomography (CT) following mediastinoscopy and to determine the CT features of the collection. MATERIALS AND METHODS: All patients who underwent uncomplicated mediastinoscopy during a 1-year period were retrospectively identified. This list was cross-referenced to determine those patients who also underwent CT within 15 days after the procedure. Each post-mediastinoscopy CT examination was assessed in consensus by three fellowship-trained thoracic radiologists for the presence of subcarinal abnormalities, which were also characterized in terms of their size and density. Additional CT findings were recorded, including tracheobronchial wall thickening, paratracheal collections, mediastinal fat stranding, and mediastinal air. RESULTS: The study cohort included 10 patients (seven men and three women) with mean age of 65 years (range 49-81 years). CT was performed a mean of 11 days following mediastinoscopy. The most common CT finding was an oval subcarinal collection in nine of 10 cases (size 1.1-3.2 cm). In all nine cases, the subcarinal collections were consistently lower in attenuation than the subcarinal lymph node in the same region on the pre-procedure CT examination. Other CT findings included anterior tracheobronchial wall thickening (n=7); paratracheal collection (n=6); mediastinal fat stranding (n=6); and mediastinal air in (n=4) cases. CONCLUSION: A subcarinal collection was identified in 90% of cases following mediastinoscopy. Its rapid development and characteristic appearance help to distinguish it from a lymph node.

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.

A screening programme for Tay Sachs disease (TSD) carrier status was introduced in high schools in Victoria, Australia in 1997, and was expanded to screen for six other genetic conditions common in the Ashkenazi Jewish population in 2008. The aim of this study was to evaluate the current programme and compare it with an evaluation of the programme when screening was offered for TSD alone. All students from Jewish high schools in Melbourne who offered the programme in 2009 were invited to participate in the study. A purpose-designed questionnaire explored the following domains: knowledge (disease and genetics), reasons for screening, anxiety, and predicted negative feelings if found to be a carrier. Two hundred and seventy-three students were offered screening, and 272 (99.6%) completed the questionnaire. Only two students chose not to have screening. Two hundred and seventy-one students were in the penultimate year of high school (99.6%) and 222 were of Ashkenazi Jewish descent (82.5%). The main reasons for choosing screening were the desire to know carrier status and convenience. Knowledge level decreased and negative feelings increased in the current cohort compared to that when screening was offered for TSD alone. We conclude that the current programme is efficient, although increasing the number of conditions resulted in a decrease in knowledge and increase in predicted negative feelings if found to be a carrier of one of the conditions. This has implications for multi-disease screening programmes that will increase in frequency as more conditions can be screened for and costs diminish.

Rapid progression of an anal Buschke-Lowenstein tumour into a metastasising squamous cell carcinoma in an HIV-infected patient.

BACKGROUND: Buschke-Löwenstein tumour (BLT) of the anogenitalia is a locally invasive, destructively growing verrucous carcinoma that does not metastasise. Histologically BLT resembles benign condylomata acuminata. Nevertheless, the tumour grows relentlessly and may rarely progress into squamous cell cancer (SCC). RESULTS: A human immunodeficiency virus (HIV)-infected immunosuppressed patient developed (peri)anal warts accompanied by recurrent abscesses and fistulae. Histology revealed condylomata acuminata, and low-risk genital human papillomavirus (HPV) type 11b was detected. Six months later, the tumour had progressed into an ulcerated SCC that destroyed the rectum and perineum, with metastases to the inguinal lymph nodes. Whereas highly active antiretroviral therapy (HAART) effectively suppressed HIV replication, radiochemotherapy plus anti-EGFR antibody did not halt tumour progression, and the patient died from tumour-cachexia. DISCUSSION: As far as is known, this is the first report demonstrating rapid progression of a BLT into a metastasising SCC in an HIV-infected patient.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement of time consuming, locus specific testing for specific microdeletion and microduplication syndromes with microarray analysis, which theoretically should detect all known syndromes with CNV aetiologies as well as new ones. METHODS: Genome wide copy number analysis was performed on 117 patients using Affymetrix 250K microarrays. RESULTS: 434 CNVs (195 losses and 239 gains) were found, including 18 pathogenic CNVs and 9 identified as "potentially pathogenic". Almost all pathogenic CNVs were larger than 500 kb, significantly larger than the median size of all CNVs detected. Segmental regions of loss of heterozygosity larger than 5 Mb were found in 5 patients. CONCLUSIONS: Genome microarray analysis has improved diagnostic success in this group of patients. Several examples of recently discovered "new syndromes" were found suggesting they are more common than previously suspected and collectively are likely to be a major cause of mental retardation. The findings have several implications for clinical practice. The study revealed the potential to make genetic diagnoses that were not evident in the clinical presentation, with implications for pretest counselling and the consent process. The importance of contributing novel CNVs to high quality databases for genotype-phenotype analysis and review of guidelines for selection of individuals for microarray analysis is emphasised.

Microdissection molecular copy-number counting (microMCC)--unlocking cancer archives with digital PCR.

Most cancer genomes are characterized by the gain or loss of copies of some sequences through deletion, amplification or unbalanced translocations. Delineating and quantifying these changes is important in understanding the initiation and progression of cancer, in identifying novel therapeutic targets, and in the diagnosis and prognosis of individual patients. Conventional methods for measuring copy-number are limited in their ability to analyse large numbers of loci, in their dynamic range and accuracy, or in their ability to analyse small or degraded samples. This latter limitation makes it difficult to access the wealth of fixed, archived material present in clinical collections, and also impairs our ability to analyse small numbers of selected cells from biopsies. Molecular copy-number counting (MCC), a digital PCR technique, has been used to delineate a non-reciprocal translocation using good quality DNA from a renal carcinoma cell line. We now demonstrate microMCC, an adaptation of MCC which allows the precise assessment of copy number variation over a significant dynamic range, in template DNA extracted from formalin-fixed paraffin-embedded clinical biopsies. Further, microMCC can accurately measure copy number variation at multiple loci, even when applied to picogram quantities of grossly degraded DNA extracted after laser capture microdissection of fixed specimens. Finally, we demonstrate the power of microMCC to precisely interrogate cancer genomes, in a way not currently feasible with other methodologies, by defining the position of a junction between an amplified and non-amplified genomic segment in a bronchial carcinoma. This has tremendous potential for the exploitation of archived resources for high-resolution targeted cancer genomics and in the future for interrogating multiple loci in cancer diagnostics or prognostics.

Human papillomavirus type 26 infection causing multiple invasive squamous cell carcinomas of the fingernails in an AIDS patient under highly active antiretroviral therapy.

Squamous cell carcinoma (SCC) of the nail unit is a rare disorder. An association with high-risk genital human papillomavirus (HPV) infection has been reported. We report a 28-year-old human immunodeficiency virus (HIV)-infected bisexual man who had multiple invasive SCC of the fingers, infected with the rare type HPV 26. Classification of HPV 26 as high- or intermediate-risk type has been uncertain, due to its rare presence in cervical cancer. Despite successful treatment with highly active antiretroviral therapy (HAART), the patient developed extensive hyperkeratotic nailbed proliferations of all fingers. Tumours were refractory to treatment and invaded into adjacent tissues. X-rays of the hands demonstrated bone invasion, necessitating amputation of distal phalanges of several fingers. Histologically, highly differentiated preinvasive and invasive verrucous SCCs were identified. Molecular DNA typing identified HPV 26 in the SCCs and in some premalignant lesions. By in situ hybridization HPV 26 DNA was detected in numerous tumour cells, indicating productive infection with high-level amplification of the viral genome. In the remaining proliferations, high-risk HPV type 58, cutaneous HPVs and a putative new HPV type were identified. HPV 26 infection appears to be causally involved in the development of SCC of the nail unit in this immunosuppressed patient. Timely evaluation of chronic verrucous nailbed tumours is recommended, especially in immunocompromised patients. Identification of HPV 26, besides known high-risk HPV types, may identify patients at risk for developing SCC of the nailbed and possibly at other locations.

[Idiopathic interstitial pneumonias: from classification to diagnostic work-up]. / Idiopathische interstitielle Pneumonien : Von der Klassifikation zur Diagnostik.

Idiopathic interstitial pneumonias (IIP) comprise seven entities with distinct histologic patterns. In their idiopathic form IIP are rare diseases. They are, nevertheless, considered prototypes of the much more common secondary interstitial pneumonias. The advent of high-resolution computed tomography (HRCT) has had a profound impact on the imaging of IIP, because the detailed delineation of the lung anatomy allows a close correlation between the histologic patterns of IIP and the CT features. On the basis of CT morphology and in the correct clinical context, the radiologist can achieve an accurate diagnosis in many cases. However, due to overlap between the various entities, complementary lung biopsy is recommended in virtually all cases. This article reviews the CT pattern of IIP and offers relevant clinical and histological information for the purpose of enabling the radiologist to understand and participate in the multidisciplinary concept of IIP.

[Imaging of emphysema]. / Bildgebung des Lungenemphysems.

Emphysema is defined as a condition of the lung characterized by abnormal, permanent enlargement of airspaces distal to the terminal bronchiole accompanied by destruction of the alveolar walls and without obvious fibrosis. It is a very common disease with high morbidity and mortality. Histopathologically, there are two types of emphysema: panlobular emphysema, typically occurring in alpha1-antitrypsin deficiency, and centrilobular emphysema, which is strongly associated with cigarette smoking. Computed tomography (CT) allows detection of emphysema with higher sensitivity than conventional chest radiography and pulmonary function tests. CT also allows quantification of emphysema and depicts associated changes and complications. The differential diagnosis of emphysema, which is characterized by the absence of clearly definable walls on CT, includes cystic lung disease, bullae, lung laceration, Langerhans cell histiocytosis, and lymphangioleiomyomatosis -which are all characterized by visible walls on CT.

[Radiologic diagnosis of lung tuberculosis]. / Radiologische Diagnostik der Lungentuberkulose.

The radiologic knowledge of tuberculosis-associated lung disease is an essential tool in the clinical diagnosis of tuberculosis. Chest radiography is the primary imaging method, but the importance of CT is still increasing, as CT is more sensitive in the detection of cavitation, of hilar and mediastinal lymphadenopathie, of endobronchial spread and of complications in the course of the disease. In addition, CT has been proven as a valuable technique in the assessment of tuberculosis activity, especially in patients where M. tuberculosis has not been detected in the sputum or in patients with multidrug-resistant tuberculosis. Depending on the immune status of the patient, the morphologic spectrum of tuberculosis is quite variable. Early diagnosis of tuberculosis is essential to prevent further spread of the disease.

A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services.

To determine which aspects of breast cancer genetic counselling are important to Ashkenazi Jewish women, a discrete choice experiment was conducted. Participants consisted of 339 Australian Ashkenazi Jewish women who provided a blood sample for research used to test for Ashkenazi Jewish ancestral mutations in the genes BRCA1 and BRCA2, and were offered their genetic test result through a cancer genetics service. Main outcome measures were women's preferences for, and trade-offs between, the genetic counselling aspects of providing cancer, gene, and risk information (information); giving advice about cancer surveillance (surveillance); preparing for genetic testing (preparation); and, assistance with decision-making (direction). Respondents most valued information, about twice as much as advice about surveillance, four times as much as preparation for testing, and nine times as much as assistance with decision-making, which was least valued. Women's preferences were consistent with the major goals of genetic counselling, which include providing information and surveillance advice, and avoiding direction by facilitating autonomous decision-making. There were differences between the women in which aspects they most favoured, suggesting that counselling that elicits and responds to clients' preferences is more likely to meet clients' needs.

Construction and use of facial archetypes in anthropology and syndrome diagnosis.

This paper describes the benefits of moving from recording simple Euclidian distances and angles between landmarks on the face to full three-dimensional visualisation and mapping using modern optical scanning techniques. Pilot experiments are reported on that strive to create facial archetypes which are accurately descriptive of various cohorts of people. Issues considered include variation amongst people of the same sex, age and population-of-origin. The study has discovered that very few people are needed to construct an "average" face, which is measurably indistinguishable from another average constructed using the faces of other people from within the group studied. This discovery has given the researchers confidence in the reliability of the archetypes which they have produced and this is important if such an analytical technique is to find application in discriminating between peoples on a population basis and in syndrome diagnosis.

[T1 maps and O2-enhanced MRT of the diseased lung. Emphysema, fibrosis, mucoviscidosis]. / T1-Maps und O2-verstärkte MRT der erkrankten Lunge. Emphysem, Fibrose, Mukoviszidose.

PURPOSE: Gas exchange is the primary function of the lung and the transport of oxygen plays a key role in pulmonary physiology and pathophysiology. MATERIALS AND METHODS: Molecular oxygen is weakly paramagnetic, so that an increase in oxygen concentration results in shortening T1 relaxation time and thus increasing signal intensity in T1 weighted images. The calculation of parameter maps may allow deeper insights into relaxation mechanisms. T1 maps based on a snapshot FLASH sequence obtained during the inhalation of various oxygen concentrations allow the creation of an oxygen transfer function, providing a measurement of local oxygen transfer. T1 weighted single shot TSE sequences demonstrate the signal changing effects during inhalation of pure oxygen. RESULTS: The average of the mean T1 values over the entire lung during inspiration was 1,199+/-117 ms, the average of these values during expiration was 1,333+/-167 ms. T1 maps of patients with emphysema and lung fibrosis show fundamentally different values and respiratory dependence compared to healthy individuals. Oxygen enhanced MR has the potential to assess reduced diffusion capacity and decreased transport of oxygen in patients with emphysema and cystic fibrosis. DISCUSSION: Results published in the literature indicate that T1 mapping and oxygen enhanced MR are promising new methods in functional imaging of the lung.

The adult phenotype in Costello syndrome.

We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a choroid plexus papilloma. Endocrine problems in this series were osteoporosis, central hypogonadism, and delayed puberty. Other health problems were symptomatic Chiari malformations in three patients. Four patients had adult-onset gastro-esophageal reflux, three of whom had Chiari malformations. Fourteen adults had mild to moderate intellectual disability with three individuals having severe intellectual disability; 15 individuals attained some reading and writing skills and 14 showed ongoing acquisition of new skills into adulthood. On the basis of this data, we recommend that neuro-imaging be considered in adults with Costello syndrome if they develop symptoms suggestive of a Chiari malformation. In the event of pubertal delay, endocrine investigations are indicated and hormone treatment may be required. Bone density assessments should be performed in adults with Costello syndrome, particularly in those with pubertal abnormalities. Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation.