Combination Of Clinical Examination Research Articles

Reasons why it is time to change imaging guidelines on endometriosis.

In light of the rising number of patients referred for magnetic resonance imaging (MRI) due to suspected endometriosis and the high expectations of these patients, there is a need for new imaging guidelines to optimally protocol and indicate MRI and transvaginal ultrasonography (TVUS) examinations. This is crucial for accurately addressing the inquiries of gynecologists, encompassing complete mapping and preoperative staging, and facilitating effective communication with patients. In this context, the development of a standardized lexicon, as well as dedicated imaging classifications, is recommended to aid in the comprehensive management of patients. CLINICAL RELEVANCE STATEMENT: The radiologist should use a standardized lexicon and provide a score along with details about the specific compartments affected by endometriosis disease. This helps in offering clearer guidance to the surgeon. KEY POINTS: • An optimal staging is based on the combination of clinical examination, transvaginal US, and MRI. • MRI is able to detect location that is hidden at the beginning of a laparoscopic surgery and thus the need for dedicated MR classifications to correctly stage the disease. • Deep pelvic endometriosis index (dPEI) classification is externally validated and highly correlated with operating time, hospital stay, and postoperative complications.

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of inherited degenerative retinal disorders affecting more than 1.5 million people worldwide. For 30-50% of individuals with RP, the genetic cause remains unresolved by current clinical diagnostic gene panels. It is likely explained by variants in novel RP-associated genes or noncoding regulatory regions, or by complex genetic alterations such as large structural variants. Recent developments in long-read sequencing techniques have opened an opportunity for efficient analysis of complex genetic variants. We analysed a Finnish family with dominantly inherited RP affecting six individuals in three generations. Two affected individuals underwent a comprehensive clinical examination in combination with a clinical diagnostic gene panel, followed by whole exome sequencing in our laboratory. They exhibited typical signs of RP, yet initial sequence analysis found no causative variants. Reanalysis of the sequencing data detected a LINE-1 (L1) retrotransposon insertion of unknown size in exon 4 of the RP1 axonemal microtubule-associated (RP1) gene. The large chimeric L1 insertion that segregated with the disease was further characterised using targeted adaptive nanopore sequencing of RP1, allowing us to identify a 5.6 kb L1 transposable element insertion in RP1 as the cause of RP in this family with dominantly inherited RP.

Prediction performance of scoring systems after out-of-hospital cardiac arrest: A systematic review and meta-analysis.

Ongoing changes in post resuscitation medicine and society create a range of ethical challenges for clinicians. Withdrawal of life-sustaining treatment is a very sensitive, complex decision to be made by the treatment team and the relatives together. According to the guidelines, prognostication after cardiopulmonary resuscitation should be based on a combination of clinical examination, biomarkers, imaging, and electrophysiological testing. Several prognostic scores exist to predict neurological and mortality outcome in post-cardiac arrest patients. We aimed to perform a meta-analysis and systematic review of current scoring systems used after out-of-hospital cardiac arrest (OHCA). Our systematic search was conducted in four databases: Medline, Embase, Central and Scopus on 24th April 2023. The patient population consisted of successfully resuscitated adult patients after OHCA. We included all prognostic scoring systems in our analysis suitable to estimate neurologic function as the primary outcome and mortality as the secondary outcome. For each score and outcome, we collected the AUC (area under curve) values and their CIs (confidence iterval) and performed a random-effects meta-analysis to obtain pooled AUC estimates with 95% CI. To visualize the trade-off between sensitivity and specificity achieved using different thresholds, we created the Summary Receiver Operating Characteristic (SROC) curves. 24,479 records were identified, 51 of which met the selection criteria and were included in the qualitative analysis. Of these, 24 studies were included in the quantitative synthesis. The performance of CAHP (Cardiac Arrest Hospital Prognosis) (0.876 [0.853-0.898]) and OHCA (0.840 [0.824-0.856]) was good to predict neurological outcome at hospital discharge, and TTM (Targeted Temperature Management) (0.880 [0.844-0.916]), CAHP (0.843 [0.771-0.915]) and OHCA (0.811 [0.759-0.863]) scores predicted good the 6-month neurological outcome. We were able to confirm the superiority of the CAHP score especially in the high specificity range based on our sensitivity and specificity analysis. Based on our results CAHP is the most accurate scoring system for predicting the neurological outcome at hospital discharge and is a bit less accurate than TTM score for the 6-month outcome. We recommend the use of the CAHP scoring system in everyday clinical practice not only because of its accuracy and the best performance concerning specificity but also because of the rapid and easy availability of the necessary clinical data for the calculation.

Возможности и ограничения ультразвукового исследования нервов при полинейропатиях

Polyneuropathies are among the most common and heterogeneous diseases of the nervous system. Clinical examination and electromyography data classically used in the diagnosis of polyneuropathies may not be sufficient to reduce the range of possible diseases and determine the specific nosology. Ultrasound examination is a universal and accessible method that can be considered as an additional tool for differential diagnosis. The review describes the features of nerve ultrasound changes in demyelinating polyneuropathies of various etiologies, including autoimmune, dysmetabolic and hereditary subtypes. A group of polyneuropathies with specific ultrasound pattern is outlined, as well as the limitations of ultrasound examinations and possible difficulties in differential diagnosis. Algorithms for differential diagnosis of polyneuropathies using a combination of clinical examination, electromyography and nerve ultrasound are outlined.

Factors Influencing Mandibular Deviation: A Retrospective Clinical Study.

This study aimed to investigate the correlation between mandibular deviation (MD) and possible clinical factors in patients with anterior disc displacement (ADD). This retrospective clinical study enrolled 296 patients with ADD, diagnosed using magnetic resonance imaging, from 2015 to 2018. The clinical symptoms and medical histories of these patients were carefully examined and recorded. Mandibular deviation was the primary outcome variable confirmed by a combination of clinical examination and facial photographs or posteroanterior cephalograms. The primary predictor variable was ADD staging. Secondary predictor variables included condylar height and distance of disc displacement. Other predictor variables were age, sex, disease course, oral parafunctions, depression, and bone mineral density. We used logistic regression to examine the correlation between the MD and all predictor variables. The χ2 test and analysis of variance were used to exclude the correlation between the predictor variables. In this study, the prevalence of MD was 77% among 278 patients with ADD. Bilateral ADD staging significantly contributed to MD on both sides. The odds ratio increased with the deterioration of disc displacement. The present study demonstrated that the ADD staging influences the condylar height and MD, and that articular disk position should be considered while treating MD.

Recent Advances in Imaging Macular Atrophy for Late-Stage Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is a leading cause of blindness worldwide. In late-stage AMD, geographic atrophy (GA) of dry AMD or choroidal neovascularization (CNV) of neovascular AMD eventually results in macular atrophy (MA), leading to significant visual loss. Despite the development of innovative therapies, there are currently no established effective treatments for MA. As a result, early detection of MA is critical in identifying later central macular involvement throughout time. Accurate and early diagnosis is achieved through a combination of clinical examination and imaging techniques. Our review of the literature depicts advances in retinal imaging to identify biomarkers of progression and risk factors for late AMD. Imaging methods like fundus photography; dye-based angiography; fundus autofluorescence (FAF); near-infrared reflectance (NIR); optical coherence tomography (OCT); and optical coherence tomography angiography (OCTA) can be used to detect and monitor the progression of retinal atrophy. These evolving diverse imaging modalities optimize detection of pathologic anatomy and measurement of visual function; they may also contribute to the understanding of underlying mechanistic pathways, particularly the underlying MA changes in late AMD.

Differential diagnosis of red scalp: the importance oftrichoscopy.

Red scalp is a common complaint that may constitute a diagnostic and therapeutic challenge in daily clinical practice. Among the numerous diseases to cause diffuse scalp erythema are psoriasis, seborrhoeic dermatitis, contact dermatitis, diffuse lichen planopilaris, dermatomyositis and scalp rosacea. Accurate diagnosis is crucial for optimal treatment outcomes. Histology most frequently discriminates the underlying condition, but it requires scalp biopsy. In many cases, the combination of clinical examination and trichoscopy is sufficient for establishing the correct diagnosis. The main trichoscopic features of psoriasis are silver-white scaling, regularly distributed dotted (glomerular) vessels or twisted red loops, and punctate haemorrhages. Yellowish-white scaling and thin arborizing vessels are typical features of seborrhoeic dermatitis. Contact dermatitis is characterized by the presence of yellow exudate and polymorphic vessels, while perifollicular scaling and erythema with the lack of follicular openings are typical findings in lichen planopilaris. In scalp dermatomyositis, tortuous and arborizing vessels with interfollicular and perifollicular pigmentation may be detected. The most characteristic features of scalp rosacea are perifollicular scaling and polygonal/arborizing vessels. This review also summarizes histological features and therapeutic options for these conditions.

Association between the Clinical, Laboratory and Ultrasound Characteristics and the Etiology of Peripheral Lymphadenopathy in Children.

Peripheral lymphadenopathy affects most children at least once in a lifetime and represents a major reason for concern. Therefore, we aimed to identify the most common causes of peripheral lymphadenopathy in hospitalized children and to determine the clinical, laboratory and ultrasound characteristics that enable fast, easy and accurate etiological diagnosis. We performed a cross-sectional study including 139 children who were hospitalized because of peripheral lymphadenopathy. Ultrasound of lymph nodes was performed in 113 (81.3%) patients. Lymphadenopathy was generalized in nine (6.5%) patients. Malignant etiology was established in only three (2.2%) patients. Bacterial lymphadenitis, infectious mononucleosis (IM) and cat scratch disease (CSD) were diagnosed in 66 (47.5%), 31 (22.3%) and 29 (20.9%) patients, respectively. Bacterial lymphadenitis was significantly associated with neutrophilia (p < 0.01), and increased C-reactive protein levels (p < 0.01). IM was associated with pharyngitis (p < 0.01), leukocytosis without neutrophilia (p = 0.03) and increased blood liver enzyme levels (p < 0.01). CSD was associated with recent contact with a cat (p < 0.01), absence of a fever (p < 0.01) and normal white blood cell count (p < 0.01). Thorough history and clinical examination in combination with a few basic laboratory tests enable fast and accurate differentiation between the most common etiologies of lymphadenopathy in children to avoid unnecessary procedures and hospitalizations.

Paranasal Schwannomas: A Comprehensive Study of 2 Cases.

Paranasal sinus tumors are a heterogeneous group of neoplasms (with paranasal schwannomas being a rare subtype) that are often present with non-specific symptoms, such as nasal obstruction and epistaxis. Thus, early diagnosis is crucial for optimal management. This study presents 2 cases of paranasal schwannomas, detailing their clinical presentation, diagnostic methods, and treatment approaches. Both patients underwent endoscopic sinus surgery with successful tumor excision and had no significant complications or recurrences during follow-up. Diagnosis was based on a combination of clinical examination, radiological imaging (computed tomography and magnetic resonance imaging), and histopathological confirmation with immunohistochemical staining. Treatment consisted primarily of endonasal resection, with consideration of frontal craniotomy if necessary. This study aims to contribute to the understanding of paranasal schwannomas and emphasizes the importance of early detection and treatment to improve patient outcomes.

Tzanakis score as a diagnostic tool for an acute appendicitis: An institution-based retrospective study

Introduction: Acute appendicitis is the most common pathology encountered among the patients with acute abdominal pain. Nowadays, different scoring systems are used to diagnose acute appendicitis. One of them is Tzanakis scoring, which is a combination of clinical examination, ultrasonography, and laboratory markers of inflammatory markers. Hence, this study was done to assess the diagnostic accuracy of Tzanakis scoring system in diagnosing acute appendicitis and compare its accuracy with histopathological examination. Methods: A retrospective observational study of all cases of acute appendicitis was conducted from July 2018 to June 2019 at the Department of Surgery, Western Regional Hospital.Out of 403 patients who had undergone appendicectomy during the period of one year, the necessary documents of 83 patients could not be collected. Hence, 320 patients were included in our study. The ethical approval was taken from the Institutional Review Committee (Ref. No. 14. 2077/078). Total Tzanakis score of all patients who underwent appendicectomy during this period was calculated and compared with histopathology report. Sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy were calculated. Results: The sensitivity,specificity of Tzanakis score of all 320 patients who underwent appendicectomy was 84% and 71% respectively. The diagnostic accuracy was 84% with positive predictive value 98% and negative predictive value 17%. Conclusions: The Tzanakis scoring system is simple, effective and easy to be applicable for the diagnosis of acute appendicitis.

Comparison of clinical examination, doppler and fistulogram for arterio-venous fistula surveillance in detecting secondary failure.

Arteriovenous Fistula (AVF) surveillance is required to detect early dysfunction (thrombosis, stenosis) and its timely correction prolongs access-patency. Clinical examination (CE) and doppler have been used as screening/surveillance of AVF, for early detection of AVF dysfunction. Since there was inadequate evidence for KDOQI to make recommendations on AVF surveillance and on secondary failure rate. We compared CE, doppler and fistulogram as surveillance modalities in detecting a secondary failure in matured AVF. This prospective-observational, single-center study, was done between December 2019-April 2021. CKD stage 5 patients on dialysis/Not-on-dialysis with matured AVF were included at third month. CE, doppler (blood flow, vein diameter, depth), and fistulogram were done at third and sixth month. Secondary failure was assessed at sixth month classifying AVF to patent/functional and failed group. Diagnostic tests were performed by comparing three methods considering fistulogram as gold-standard. Residual urine output is also monitored to look for any contrast induced residual renal function loss. Of total 407 created AVF, 98 (24%) had primary failure. Twenty-five (6%) had surgical complications including unsuccessful AVF and aneurysm/rupture, 156 lost follow-up at third month, 104 consented patients were enrolled, 16 lost to follow-up subsequently, and 88 patients' data were analyzed at the end. At the sixth month, 76(86.4%) had patent AVF, 8 (9.1%) had secondary failure (Thrombosis-4, Central Venous Stenosis-4), and 4 (4.1%) patients expired. Considering fistulogram as a diagnostic standard, CE showed 87.5% sensitivity, and 93.4% specificity (cohen's kappa value of 0.66). Doppler had sensitivity and specificity of 87% and 96% respectively (cohen's kappa value of 0.75), Combination of clinical examination with doppler showed sensitivity and specificity of 100% and 89% respectively. Although the secondary AVF failure rate is less than the primary, CE is an important and valuable tool in the diagnosis and surveillance of AVF in detecting its dysfunction. Moreover, CE with doppler can be used as a surveillance protocol that can detect early AVF dysfunction at par with Fistulogram.

Primary Bone Lymphoma: A Review of the Literature with Emphasis on Histopathology and Histogenesis.

Primary bone lymphoma (PBL) is a rare neoplasm of malignant lymphoid cells presenting with one or more bone lesions without nodal or other extranodal involvement. It accounts for approximately 1% of all lymphomas and 7% of malignant primary bone tumors. Diffuse large B-cell lymphoma (DLBCL), not otherwise specified (NOS) represents the predominant histological type and constitutes over 80% of all cases. PBL may occur at all ages with a typical diagnosis age of 45-60 years and a slight male predominance. Local bone pain, soft tissue edema, palpable mass and pathological fracture are the most common clinical features. Diagnosis of the disease, which is frequently delayed due to its non-specific clinical presentation, is based on the combination of clinical examination and imaging studies and confirmed by combined histopathological and immunohistochemical examination. PBL can develop in any part of the skeleton, although it occurs most commonly in the femur, humerus, tibia, spine and pelvis. The imaging appearance of PBL is highly variable and unspecific. In terms of the cell-of-origin, most cases of primary bone DLBCL (PB-DLBCL), NOS belong to the germinal center B-cell-like subtype and specifically originate from germinal center centrocytes. PB-DLBCL, NOS has been considered a distinct clinical entity based on its particular prognosis, histogenesis, gene expression and mutational profile and miRNA signature. PBL carries a favorable prognosis, especially when treated with combined chemoradiotherapy.

Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae

PurposeTo investigate molecular pathogenesis of congenital ectopia lentis accompanied by various ophthalmic manifestations in a pedigree. MethodsThree female siblings, their spouse and offspring underwent ophthalmic and general medical examinations. Genetic variants were screened with the whole exome sequencing and analyzed in either a dominant or recessive inheritance manner. Gene mutations were ascertained with the Sanger sequencing after the polymerase chain reaction. ResultsAll three female siblings were diagnosed as the Ectopia lentis et pupillae (ELeP) through combination of clinical examination and genetic analysis. No characteristic pathological changes of skeletal, metabolic and cardiac abnormalities were observed. Thirteen genetic variants were selected out through analyzing in the dominant or recessive inheritance manner, but they were not associated with EL. Among them, ALOX15B variant may explain the skin disease in this pedigree. After inspection the known genes related to EL, novel compound heterozygous mutations (p.Ser264LeufsX37/p.Gly757ValfsX62) in ADAMTSL4 were discreetly identified in this ELeP pedigree. ConclusionsNovel compound heterozygous ADAMTSL4 variants are responsible for ELeP in the current pedigree. Correlation between ADAMTSL4 variants and ELeP was firstly established based on our 12 years follow-up studies and previous reports of ELeP and of ADAMTSL4–related eye disorders. The primary phenotypes caused by ADAMTSL4 variants include EL, EP, poor pupillary dilation, and axial elongation. Highly varying phenotypes including glaucoma, high myopia retinapathy, and poor vision and so on may be the secondary impairments. All these secondary impairments may be improved if proper clinical interventions are implemented in time.

A Comparative Study Between Fine-Needle Aspiration Cytology and Core Needle Biopsy in Diagnosing Clinically Palpable Breast Lumps.

Background and objectiveMost breast diseases present as palpable lumps. The accuracy of their diagnosis can be enhanced by a combination of clinical examination, mammography, fine-needle aspiration cytology (FNAC), and core needle biopsy (CNB) preoperatively. The ultimate aim of FNAC or CNB of the breast mass is to confirm the diagnosis of cancer preoperatively, which may help avoid unnecessary surgeries for benign conditions. Histopathology is the gold standard to establish the diagnosis of a breast mass. In this study, we aimed to compare the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and diagnostic accuracy of FNAC with those of trucut biopsy, and provide a combined assessment of FNAC and CNB against the final histopathological diagnosis of excised breast mass in suspected breast malignancies.Materials and methodsThis was a prospective, observational, cross-sectional study conducted for a duration of one year involving 42 patients with suspected breast cancer cases who underwent FNAC, CNB, and surgical excision followed by a histopathological examination. Data were collected and analyzed in terms of sensitivity, specificity, PPV, NPV, and diagnostic accuracy of FNAC and CNB in comparison with histopathology.ResultsThe majority of the patients in the study (78.6%) were in the age group of 31-50 years. In our study, FNAC showed a sensitivity, specificity, PPV, NPV, and diagnostic accuracy of 74.1%, 76.9%, 87.0%, 64.7%, and 75% respectively. CNB had a sensitivity, specificity, PPV, NPV, and diagnostic accuracy of 85.2%, 92.8%, 95.8%, 76.5%, and 87.8% respectively. The level of agreement between the two modalities (FNAC and CNB) was moderate and statistically significant (k=0.543; p<0.001). In the combined assessment of FNAC and CNB against final histopathological diagnosis for malignancy/borderline diagnosis, the sensitivity, specificity, PPV, NPV, and diagnostic accuracy were 89.3%, 85.7%, 92.6%, 80%, and 88.1% respectively.ConclusionThe diagnostic accuracy of the combined assessment of FNAC and CNB against final histopathological diagnosis for malignancy/borderline diagnosis was better than that of FNAC or CNB alone. This finding shows that both the techniques complement each other. FNAC and CNB are used as the first- and second-line methods of pathological diagnosis respectively.

Evaluation of new and old biomarkers in dogs with degenerative mitral valve disease

BackgroundDogs with degenerative mitral valve disease are commonly presented to small animal clinicians. Diagnosis, clinical staging, and therapeutic design are based on a combination of clinical examination, radiography, and echocardiography. To support diagnosis and clinical monitoring, a multi-marker-based approach would be conceivable. The aim of this study was to investigate the suitability of Galectin-3 and interleukin-1 receptor-like 1 protein (ST2) in dogs with degenerative mitral valve disease in accordance with N-terminal-prohormone-B-type natriuretic peptide (NT-proBNP) and cardiac troponin I (cTnI). For this purpose, serum concentrations of Galectin-3 and ST2 of 64 dogs with different stages of mitral valve disease and 21 dogs without cardiac disease were analyzed at the first examination and six months later. Echocardiography, blood cell count and clinical chemistry were performed and established biomarkers NT-proBNP and cTnI were measured additionally. Differences in the biomarker concentrations between all groups at both timepoints and the change in biomarker concentrations from first to second evaluation was investigated. Furthermore, correlations of each biomarker, between biomarkers and echocardiographic measurements, were calculated. Finally, the receiver-operating characteristic curve and the area under the curve analysis were performed to differentiate between disease stages and controls.ResultsSerum concentrations of Galectin-3 and ST2 were not statistically different between canine patients in the respective stages of mitral valve disease or in comparison to dogs in the control group at any timepoint. A significant increase in ST2 concentrations from the baseline to the follow-up examination was observed in dogs classified as stage B1 and the control group. The concentrations of NT-proBNP and cTnI in stage C dogs were significantly increased in comparison to the other groups.ConclusionsIn this study, no relation between Galectin-3 and ST2 levels to the presence or stage of mitral valve disease could be detected. Nevertheless, considering the increase in ST2 concentrations from the first to second measurement, its value on monitoring disease progress could be feasible. In agreement with previous studies, NT-proBNP and cTnI have once more proven their utility in assessing disease severity. The approach of examining new cardiac biomarkers in dogs is still worth pursuing.

MO738: Simplified Portable Lung Ultrasound Assessment of Fluid Status among Dialysis Patients

Abstract BACKGROUND AND AIMS Fluid assessment is challenging, and fluid overload poses a significant problem among dialysis patients [1], with pulmonary oedema being the most serious consequence. Detection of B lines on lung ultrasound (LUS) is a reliable method of estimating lung water with higher sensitivity compared with clinical examination [2]. A simplified 8-point LUS has also shown a good correlation with the standard 28-point LUS in assessing lung water [3]. Using a simplified 8-point LUS by a portable hand-held ultrasound can help increase the uptake of LUS fluid assessment in dialysis units. Our study aims to determine the performance of simplified 8-point LUS using a portable hand-held LUS unit in assessing the fluid status of dialysis patients compared with bioimpedance alone or a combination of bioimpedance and clinical examination. METHOD Two independent nephrologists performed a simplified 8-point LUS unit using a portable hand-held US unit. Clinical assessment of fluid status and bioimpedance were used as comparators. Fluid overload was defined as a B-line count of &amp;gt; 5. Our primary outcomes were the performance of simplified 8-point LUS compared with overhydration (OH) presented as absolute value and by percentage (OH%), with or without the combination of clinical examination of fluid status. RESULTS LUS was performed on 50 hemodialysis and 11 peritoneal dialysis patients. A total of 10% of patients were euvolemic, 46% had mild, 42% moderate and 2% severe fluid overload on clinical examination. The OH and OH% of the area under the curve (AUC) for the receiver operating characteristic curve (ROC) curve were 0.697 and 0.713, respectively, for the performance of LUS compared with bioimpedance alone (Fig. 1). The same assessments were 0.782 and 0.781, respectively for a combination or bioimpedance together with clinical examination (Fig. 1). CONCLUSION Simplified 8-point LUS using a portable hand-held LUS unit showed a good performance with the assessment of fluid status using a combination of clinical examination and bioimpedance. This simplified and portable method will help increase the use of LUS in dialysis units.

Specific detection of Treponema pallidum in clinical samples: validation of a qPCR assay combining two genomic targets

ObjectivesWe evaluated a real-time quantitative PCR (qPCR) for detection of the Treponema pallidum (TP) genome in clinical samples through simultaneous detection of two genomic targets.MethodsWe performed qPCR with TaqMan technology...

Carcinoma of Unknown Primary (CUP) versus CUP Turned to Primary Carcinoma of the Head and Neck-An Analysis of Diagnostic Methods and the Impact of Primary Tumor on Clinical Outcome.

Background. The purpose of this study was to analyze the value of different diagnostic methods in detecting the primary site and the impact of primary tumors on the clinical outcome of carcinoma of unknown primary (CUP). Methods. In this multicenter, retrospective study, 124 patients with true CUP (n = 94) and CUP turned to primary carcinoma (n = 30) were included. Patients with evidence of primary site during the clinical examination were excluded a priori. The diagnostic procedure was comprised of imaging and invasive methods (fine-needle-aspiration, tonsillectomy and panendoscopy). All patients were treated with curative intent. Results. Despite extensive diagnostic workup, the primary site remained unknown in 75.8%. Invasive diagnostic methods showed higher primary detection rates than imaging modalities (15.1% vs. 7.8%). Tonsillectomy and panendoscopy revealed the primary tumor in 14.9% and 15.2% of patients, whereas the detection rates of CT, MRI and FDG-PET-CT were 10.1%, 4.8% and 6.5%, respectively. The occurrence of primary tumors led to a significantly deteriorating 5-year overall survival (p = 0.002) and emerged as survival prognosticator (HR = 2.764, p = 0.003). Conclusion. Clinical examination in combination with tonsillectomy and panendoscopy was superior to imaging alone in detecting the primary tumor. When the CUP of patients turned to a primary tumor, clinical outcome was significantly worse than in CUP patients.

Association of Paraoxonase 1 Gene Polymorphisms with the Risk of Breast Fibroadenoma and Breast Cancer in the Females of Guangxi, China.

Fibroadenoma of the breast is a common cause of a benign breast lump in premenopausal women. The consensus view is that women with fibroadenomas are not at significantly increased risk of developing breast cancer. The objective of this research was to explore the association of PON1 rs662 and rs705382 with the risk of breast fibroadenoma (BF) and breast cancer (BC) in the females of Guangxi in southern China. The PON1 rs662 and rs705382 single-nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 55 BF patients, 80 BC patients, and 98 healthy controls. Significant associations with FB and BC risks were observed for the rs662 SNP. Diagnosis is based on the combination of clinical examination, imaging, and nonsurgical tissue biopsy (the triple test) [21]. In haplotype analyses, the haplotype GA increases the risk and haploid GG decreases the risk in BF and BC. Our research indicated that the PON1 rs662 SNP might be a risk factor for BF and BC. The results of this research indicated that the locus of rs662 in PON1 is relevant to risk of developing BF and BC in the females of Guangxi. Further prospective studies are needed to support our conclusions.

Recent advances in the diagnosis of intestinal tuberculosis

BackgroundIntestinal tuberculosis still has a high incidence, especially in developing countries. The biggest challenge of this disease is the establishment of the diagnosis because the clinical features are not typical. Investigations such as culture, acid-fast bacilli (AFB) staining, and histopathology have low sensitivity, so other investigations are needed. Latest molecular-based diagnostic modalities such as GeneXpert, interferon-gamma (IFN-γ) release assays (IGRA), polymerase chain reaction (PCR), multiplex-PCR, and immunological markers are expected to help diagnose intestinal tuberculosis. This article review will examine the latest diagnostic modalities that can be used as a tool in establishing the diagnosis of intestinal tuberculosis.ResultsThrough a literature search, we were able to review the diagnostic values of various available diagnostic modalities as the appropriate additional test in intestinal tuberculosis. Culture as a gold standard has a sensitivity and specificity value of 9.3% and 100% with the MGIT BACTEC system as the most recommended medium. The sensitivity values of AFB staining, histopathology examination, GeneXpert, IGRA, PCR, multiplex-PCR and, immunological markers were ranged between 17.3 and 31%; 68%; 81–95.7%; 74–88%; 21.6–65%; 75.7–93.1%; and 52–87%, respectively. Meanwhile the specificity values were 100%; 77.1%; 91–100%; 74–87%; 93–100%; 96.4–100%; and 70–95%, respectively.ConclusionThe combination of clinical examination, conventional examination, and the latest molecular-based examination is the best choice for establishing the diagnosis of intestinal tuberculosis. Most recent modalities such as multiplex PCR and immunological marker examinations are diagnostic tools that deserve to be used in diagnosing intestinal tuberculosis as their sensitivity and specificity values are quite high and more evidences are expected to support the application of these examinations shortly soon.