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Oral malignant melanoma (OMM) has a prevalence less than 1% of all melanomas and it commonly develops on the oral mucosa following a slow and unspecific transformation of unstable melanocytic lesions, often resulting in a diagnostic delay. The marker PReferentially Expressed Antigen in MElanoma (PRAME) seems to be a valid tool to investigate the biological and histological nature of cutaneous melanocytic lesions, but to date its use to characterize pigmented lesions in the oral cavity is largely unexplored. The aim of this study was to create preliminary knowledge on the PRAME expression in OMM, and to compare its expression respect to other dysplastic pigmented lesions of the oral cavity. Interestingly, PRAME has been demonstrated to be reliable in the clinical conditions investigated in our pilot study; in fact, it has clearly differentiated the cases of Melanoma, which showed diffuse and intense positivity (score 6+/7+) to PRAME, from the other melanocytic nevi, which resulted to be mainly negative to PRAME. This means a better differential diagnosis, a reliable early diagnosis and a proper clinical/surgical management of the oncological lesions. In conclusion, PRAME can be a valid qualitative marker for differential diagnosis, not only in cutaneous melanomas, but also in malignant melanoma of the entire head and neck area.

Primary retroperitoneal sarcomas (RPS) represent around 10–16% of all sarcomas, with liposarcomas and leiomyosarcomas being the most common subtypes. RPS have some peculiar characteristics, imaging appearances, worse prognosis, and complications compared to other locations of sarcoma. Commonly, RPS primarily present as large masses, progressively encasing adjacent structures, causing mass effect, and complications. RPS diagnosis is often challenging, and these tumors may be overlooked; however, failure to recognize RPS characteristics leads to a worse prognosis for the patients. Surgery is the only recognized curative treatment, but the anatomical constraints of the retroperitoneum limit the ability to achieve wide resection margins; therefore, these tumors have a high rate of recurrence, and require long-term follow-up. The radiologist has an important role in the diagnosis of RPS, the definition of their extent, and their follow-up. Specific knowledge of the main imaging findings is required to reach an early diagnosis, and, ultimately, to guarantee the best patient management. This article provides an overview of the current knowledge regarding cross-sectional imaging features of patients with retroperitoneal sarcomas, presenting tips and tricks to improve imaging diagnosis of RPS.

Purpose The definition of chronic adult hydrocephalus encompasses different pathological entities with overlapping characteristics, including long-standing overt ventriculomegaly in adults (LOVA), late-onset idiopathic aqueductal stenosis (LIAS) and idiopathic normal pressure hydrocephalus (iNPH). The aim of our study was to identify preoperative clinical and radiological features peculiar of these diseases providing some pathophysiology inferences on these forms of hydrocephalus. Methods Clinical and radiological preoperative records, type of surgical treatment and clinical outcome of patients with chronic adult hydrocephalus who were surgically treated between 2013 and 2019 were retrospectively reviewed. Univariate and multivariate analyses were performed to evaluate the contribution of each variable to the differential diagnosis. Results In total, 105 patients were included: 18 with LOVA, 23 with LIAS and 64 with iNPH. On multivariate analysis, an enlarged cisterna magna and a more severe ventriculomegaly were associated with the diagnosis of LOVA, while an older age and DESH with iNPH. LIAS patients tend to have an higher prevalence of raised ICP symptoms. Based on that, a clinical and radiological scoring system was developed to distinguish between iNPH and no iNPH cases. A precise cut-off value with a sensitivity of 95.1% and a specificity of 90.6% was identified. Conclusions LOVA, LIAS and iNPH are different forms of chronic adulthood hydrocephalus and present different and peculiar clinical and radiological features, with an impact on the treatment and outcome prediction. The implementation of a clinical-radiological score for differential diagnosis may help the differentiation. Further studies are warranted.

The bladder is a rare site for breast cancer metastases, and only occasional reports are present in the literature. Most cases coexist with synchronous metastases elsewhere, but isolated cases of a single metastatic localization in the urinary bladder have been reported. The most common symptoms of a metastatic localization of breast cancer to the urinary bladder are hematuria and voiding dysfunction. Herein we present three cases of urinary bladder metastasis from breast carcinoma, all presenting with gross hematuria as the only symptom. After a review of the relevant literature, we discuss the clinical and histological characteristics unique to our cases, highlighting potential clinical and pathological diagnostic pitfalls and differential diagnoses.

The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foundation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.

The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foun- dation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.

Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a definite diagnosis might not be easily reached due to the high prevalence of variants of unknown significance (VoUS) that are identified in patients with a suggestive phenotype. Objective: we performed microarray DNAm profiling in a set of 11 individuals with a clinical suspicion of Sotos syndrome and carrying an NSD1 VoUS or previously unreported variants to solve uncertainty in defining pathogenicity of the observed variants. The impact of the training cohort size on sensitivity and prediction confidence of the classifier was assessed. Results: The Sotos syndrome-specific DNAm signature was validated in six individuals with a clinical diagnosis of Sotos syndrome and carrying bona fide pathogenic NSD1 variants. Applying this approach to the remaining 11 individuals with NSD1 variants, we succeeded in confirming pathogenicity in eight subjects and excluding the diagnosis of Sotos syndrome in three. The sensitivity and prediction confidence of the classifier based on the different sizes of the training sets did not show substantial differences, though the overall performance was improved by using a data balancing strategy. Conclusions: The present approach solved uncertainty in cases with NDS1 VoUS, further demonstrating the clinical utility of DNAm profiling.

Simple Summary: Gliomas can be difficult to discern clinically and radiologically from other brain lesions (either neoplastic or non-neoplastic) since their clinical manifestations as well as preoperative imaging features often overlap and appear misleading. Radiomics could be extremely helpful for non-invasive glioma differential diagnosis (DDx). However, implementation in clinical practice is still distant and concerns have been raised regarding the methodological quality of radiomic studies. In this context, we aimed to summarize the current status and quality of radiomic studies concerning glioma DDx in a systematic review. In total, 42 studies were selected and examined in our work. Our study revealed that, despite promising and encouraging results, current studies on radiomics for glioma DDx still lack the quality required to allow its introduction into clinical practice. This work could provide new insights and help to reach a consensus on the use of the radiomic approach for glioma DDx. Abstract: Radiomics is a promising tool that may increase the value of imaging in differential diagnosis (DDx) of glioma. However, implementation in clinical practice is still distant and concerns have been raised regarding the methodological quality of radiomic studies. Therefore, we aimed to systematically review the current status of radiomic studies concerning glioma DDx, also using the radiomics quality score (RQS) to assess the quality of the methodology used in each study. A systematic literature search was performed to identify original articles focused on the use of radiomics for glioma DDx from 2015. Methodological quality was assessed using the RQS tool. Spearman’s correlation (ρ) analysis was performed to explore whether RQS was correlated with journal metrics and the characteristics of the studies. Finally, 42 articles were selected for the systematic qualitative analysis. Selected articles were grouped and summarized in terms of those on DDx between glioma and primary central nervous system lymphoma, those aiming at differentiating glioma from brain metastases, and those based on DDx of glioma and other brain diseases. Median RQS was 8.71 out 36, with a mean RQS of all studies of 24.21%. Our study revealed that, despite promising and encouraging results, current studies on radiomics for glioma DDx still lack the quality required to allow its introduction into clinical practice. This work could provide new insights and help to reach a consensus on the use of the radiomic approach for glioma DDx.

Neck pain is a common musculoskeletal disorder encountered by physiotherapists. However, it may be the early manifestation of more alarming conditions, such as cardiovascular diseases mimicking musculoskeletal pain. Patent foramen ovale (PFO) is a congenital heart defect consisting of a small opening between the right and the left atrium. A 56-year-old male presented with neck pain and head heaviness as primary complaints. The cardiovascular profile and the behavioral symptoms led the physiotherapist to find an exaggerated blood pressure response during exercise; in addition to subtle neurological signs, this prompted the physiotherapist to make an urgent referral. At the emergency department a PFO was diagnosed. To the best of the authors’ knowledge, this is the first case to describe a rare clinical presentation of a PFO presenting neck pain as primary complaint. This case report emphasizes the importance for physiotherapists to be able to triage patients for conditions outside their scope suggestive of further medical investigation.

Acute scrotum is characterized by intense acute scrotal pain, which may be associated with other symptoms and signs such as abdominal pain, inflammation, and fever. Many pathologic conditions can present in this way, most which involve the scrotal contents. Nonscrotal conditions, however, can rarely present clinically only as acute scrotum: among them, renal colic, aneurysm rupture or other causes of retroperitoneal hemorrhage, primary abdominal or pelvic tumors and metastases, pancreatitis, pelvic inflammation, and muscle injuries. The pathophysiologic characteristics of the clinical presentation, clues for diagnosis, and imaging features of a series of nonscrotal lesions presenting clinically with acute scrotal pain are herein reported and illustrated. In patients presenting with acute scrotal symptoms and normal scrotal ultrasound findings, nonscrotal causes of acute scrotal pain should be considered in the differential diagnosis. Therefore, an ultrasound investigation of the abdomen, groin, and thighs is indicated.

Coronavirus disease 2019 (COVID-19) is currently causing a pandemic and will likely persist in endemic form in the foreseeable future. Physicians need to correctly approach this new disease, often representing a challenge in terms of differential diagnosis. Although COVID-19 lacks specific signs and symptoms, we believe internists should develop specific skills to recognize the disease, learning its 'semeiotic'. In this review article, we summarize the key clinical features that may guide in differentiating a COVID-19 case, requiring specific testing, from upper respiratory and/or influenza-like illnesses of other aetiology. We consider two different clinical settings, where availability of the different diagnostic strategies differs widely: outpatient and inpatient. Our reasoning highlights how challenging a balanced approach to a patient with fever and flu-like symptoms can be. At present, clinical workup of COVID-19 remains a hard task to accomplish. However, knowledge of the natural history of the disease may aid the internist in putting common and unspecific symptoms into the correct clinical context.

L’amiloidosi cardiaca (AC), da sempre considerata una malattia rara ed incurabile, è stata oggetto, negli ultimi 10 anni, di una rivoluzione diagnostico-terapeutica. Da un lato la disponibilità di metodiche non invasive, tipicamente la scintigrafia miocardica con traccianti ossei, ha drasticamente cambiato l’epidemiologia della malattia, svelando la reale e crescente prevalenza della forma transtiretino-relata (ATTR), e modificato gli algoritmi diagnostici, riducendo il ricorso alla biopsia endomiocardica. Dall’altro, la disponibilità di nuove terapie specifiche, come il tafamidis, ne ha reso il riconoscimento precoce una necessità clinica e non uno sterile esercizio diagnostico. Da quando, nel 2016, Gillmore e collaboratori hanno proposto una nuova flow-chart diagnostica per la diagnosi differenziale fra ATTR e amiloidosi da catene leggere delle immunoglobuline (AL), attribuendo un ruolo dirimente alla scintigrafia con traccianti ossei, questa metodica è entrata nel vocabolario e nella pratica clinica del cardiologo impegnato nel campo delle cardiomiopatie. In questo articolo cercheremo di rispondere ai principali quesiti in tema di scintigrafia miocardica con marcatori ossei ed AC, offrendo al cardiologo le conoscenze utili per orientarsi in merito a richiesta, interpretazione e contestualizzazione clinica dell’esame.

Purpose of Review: The aim of this review is to provide a comprehensive update on the clinical assessment, diagnosis, complications, and treatment of primary central nervous system vasculitis (PCNSV). Recent Findings: The developments in neuroimaging, molecular testing, and cerebral biopsy have enhanced clinical assessment and decision making, providing novel insights to prevent misdiagnosis increasing diagnostic certainty. Advances in imaging techniques visualizing the wall of intracranial vessels have improved the possibility to distinguish inflammatory from non-inflammatory vascular lesions. Large recent studies have revealed a more varied histopathological pictures and disclosed an association with amyloid angiopathy. Unfortunately, therapy remains largely empiric. Summary: PCNSV is a heterogeneous group of disorders encompassing different clinical subsets that may differ in terms of prognosis and therapy. Recent evidence has described a more benign course, with good response to therapy. New diagnostic techniques will play soon a pivotal role in the appropriate diagnosis and prompt management of PCNSV.

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Background/Aim: The differentiation between cerebral metastases (CM) and high-grade gliomas (HGG) can be difficult on magnetic resonance imaging (MRI). The aim of this study was to evaluate the usefulness of searching two MRI signs (signal alteration in the adjacent cortex, SAAC, and peripheral rim sign, PRS), in order to distinguish between these entities. Patients and Methods: A total of 61 patients were retrospectively enrolled (28 HGG, 33 CM). Fluid Attenuated Inversion Recovery (FLAIR) sequences were used to assess SAAC and contrast-enhanced T1-weighted sequences for PRS. Results: A positive SAAC sign was present in 61% of HGG, and 12% of CM. Conversely, in SAAC-negative lesions, PRS was observed in 78% of CM and in 32% of HGG. Their association had a higher frequency in HGG than in the CM group (21 vs. 3%). Conclusion: While SAAC is specific for HGG and PRS, in the absence of SAAC, is relatively specific for CMs, their combined presence is highly suggestive of HGG.

Excessive fragmentary hypnic myoclonus, hypnic jerks, hypnagogic foot tremor, alternating leg muscle activation, and sleep-related cramps are less known sleep-related motor disorders (SRMDs). These manifestations are frequently missed or misinterpreted polygraphic findings that can be frequently confused with the more frequent SRMDs. These symptoms can present as isolated motor symptoms but can be also the cause of otherwise cryptogenic insomnias and somnolence. Expanding the knowledge on these isolated symptoms and defining their polygraphic and clinical features are essential for their identification. However, clear cut-offs to discern between the isolated phenomenon and the disorder are still to be found.

Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorly understood, and easy-to-apply tools for diagnosis, clinical management, and patient stratification are still lacking. We report the 3-years monocentric experience with a 43 genes targeted Next Generation Sequencing (t-NGS) panel in diagnosis of CHAs; 122 patients from 105 unrelated families were investigated and the results compared with conventional laboratory pathway. Patients were divided in two groups: 1) cases diagnosed with hematologic investigations to be confirmed at molecular level, and 2) patients with unexplained anemia after extensive hematologic investigation. The overall sensitivity of t-NGS was 74 and 35% for families of groups 1 and 2, respectively. Inside this cohort of patients we identified 26 new pathogenic variants confirmed by functional evidence. The implementation of laboratory work-up with t-NGS increased the number of diagnoses in cases with unexplained anemia; cytoskeleton defects are well detected by conventional tools, deserving t-NGS to atypical cases; the diagnosis of Gardos channelopathy, some enzyme deficiencies, familial siterosterolemia, X-linked defects in females and other rare and ultra-rare diseases definitely benefits of t-NGS approaches.

We assessed the role of artificial intelligence applied to chest X-rays (CXRs) in supporting the diagnosis of COVID-19. We trained and cross-validated a model with an ensemble of 10 convolutional neural networks with CXRs of 98 COVID-19 patients, 88 community-acquired pneumonia (CAP) patients, and 98 subjects without either COVID-19 or CAP, collected in two Italian hospitals. The system was tested on two independent cohorts, namely, 148 patients (COVID-19, CAP, or negative) collected by one of the two hospitals (independent testing I) and 820 COVID-19 patients collected by a multicenter study (independent testing II). On the training and cross-validation dataset, sensitivity, specificity, and area under the curve (AUC) were 0.91, 0.87, and 0.93 for COVID-19 versus negative subjects, 0.85, 0.82, and 0.94 for COVID-19 versus CAP. On the independent testing I, sensitivity, specificity, and AUC were 0.98, 0.88, and 0.98 for COVID-19 versus negative subjects, 0.97, 0.96, and 0.98 for COVID-19 versus CAP. On the independent testing II, the system correctly diagnosed 652 COVID-19 patients versus negative subjects (0.80 sensitivity) and correctly differentiated 674 COVID-19 versus CAP patients (0.82 sensitivity). This system appears promising for the diagnosis and differential diagnosis of COVID-19, showing its potential as a second opinion tool in conditions of the variable prevalence of different types of infectious pneumonia.

Background and purpose: Tumefactive multiple sclerosis (TuMS) (i.e., MS onset presenting with tumefactive demyelinating lesions [TDLs]) is a diagnostic and therapeutic challenge. We performed a multicentre retrospective study to describe the clinical characteristics and the prognostic factors of TuMS. Methods: One hundred two TuMS patients were included in this retrospective study. Demographic, clinical, magnetic resonance imaging (MRI), laboratory data and treatment choices were collected. Results: TuMS was found to affect women more than men (female:male: 2.4), with a young adulthood onset (median age: 29.5years, range: 11–68 years, interquartile range [IQR]: 38 years). At onset, 52% of TuMS patients presented with the involvement of more than one functional system and 24.5% of them with multiple TDLs. TDLs most frequently presented with an infiltrative MRI pattern (38.7%). Cerebrospinal fluid immunoglobulin G oligoclonal bands were often demonstrated (76.6%). In 25.3% of the cases, more than one acute-phase treatment was administered, and almost one-half of the patients (46.6%) were treated with high-efficacy treatments. After a median follow-up of 2.3years (range: 0.1–10.7 years, IQR: 3.4 years), the median Expanded Disability Status Scale (EDSS) score was 1.5 (range: 0–7, IQR: 2). Independent risk factors for reaching an EDSS score ≥3 were a higher age at onset (odds ratio [OR]: 1.08, 95% confidence interval [CI]: 1.03–1.14, p&nbsp

Splenomegaly in children is really common and its main cause is infectious disease. The aetiology in newborns and older children is well established, while it is less defined in suckling infants. The paper describes three cases of splenomegaly in infants hospitalized in Oncohaematology Department of Sant’Orsola Malpighi Hospital. These infants presented with splenomegaly associated with other signs and symptoms that should prompt further investigations to exclude severe diseases. The aim of this paper is to offer paediatricians some indications for the diagnostic approach in infants with enlarged spleen. In particular, it reports the first level exams, the differential diagnosis and the red flags, the signs and symptoms that require special attention in infants with splenomegaly.

Castleman disease (CD) is a rare lymphoproliferative disorder of unknown etiology. Its most common location is the mediastinum, but many other sites have been reported. We report a case of primary CD of the ovary, a rare localization with only 2 cases including the present case described in the world literature to date. A 58-yr-old woman who initially presented with abdominal pain underwent computed tomography scan which showed bilateral well-circumscribed solid adnexal masses. Because an ovarian bilateral tumor was suspected the patient was treated with a hysterectomy and bilateral salpingo-oophorectomy and the histopathologic examination confirmed the diagnosis of CD hyaline-vascular type of the right ovary associated with a contralateral fibroma. Three years after surgery the patient is alive and well and shows no signs of recurrent disease. The occurrence of this rare presentation of CD is the subject of this report. The problems of differential diagnosis with the most frequent lesions of the female pelvis are also discussed.

This work points out the main differences in the semantic expressions used by patients with psychogenic non-epileptic seizures (PNES) and epileptic seizures (ES). In reference to the body as a phenomenological entity, in ES the concept of the body-object prevails while in PNES the body, with all its life attributes, predominates. In description of seizures and in similitudes and metaphors used, ES patients focus on the description of the attack, trying to close the "gap" with a big effort, while patients with PNES concentrate on the context and on the presence of bystanders. Patients with PNES are unable to describe their own attack, since this it is not at the core of their distress, but rather the manifestation of something else, which is hiding the extreme anguish associated with experiences of the past that cannot be revealed (expressed). In the case of ES, instead, the ability to talk and the willingness to elaborate on the emotions become useful tools for facing the disease, an entity perhaps unsurmountable but at least manageable, to the benefit of everyone. In general, we can say that the experience of a disease (real or symbolic) deserves constant attention because it gives us the opportunity not only to probe the depth of the emotional experiences but also the psychic structure of the individual in front of us. A cure would not be a cure without considering such fundamental elements. It would become a sterile exercise of prescribing medications without paying attention to the person, which is the best way of preserving dignity in a state of illness.

Background: Squamous cell carcinoma of the lip accounts for 20% of all oral carcinomas. Its diagnosis may be challenging because it clinically resembles actinic cheilitis and inflammatory lesions of the lips. Objectives: To determine clinical and dermatoscopic predictors of squamous cell carcinoma of the lip vs. other lip lesions. Methods: Multicentre retrospective morphological study, including histologically confirmed cases of squamous cell carcinoma of the lip and controls consisting of actinic cheilitis and inflammatory lesions of the lips. Clinical and dermatoscopic images were evaluated for the presence of predefined criteria. Crude and adjusted odds ratios and corresponding 95% confidence intervals were calculated by univariate and multivariate logistic regression respectively. Results: A total of 177 lip lesions were evaluated, 107 (60.5%) were squamous cell carcinomas and 70 (39.5%) were controls. The most frequent dermatoscopic criteria of lip squamous cell carcinoma were scales (100%), white halos (87.3%) and ulceration (79.4%). The majority of squamous cell carcinomas displayed polymorphic vessels (60.8%), with linear (68.6%) and hairpin (67.6%) being the most frequent types. Multivariate logistic regression analysis showed that clinical predictors of lip squamous cell carcinoma were exophytic appearance and clinical hyperkeratosis, with 43-fold and 6-fold higher probability respectively. White clods and ulceration in dermoscopy presented a 6-fold and 4-fold increased risk for squamous cell carcinoma respectively. Conclusions: A scaly lesion with exophytic growth, dermatoscopically displaying white clods, ulceration and linear and hairpin vessels is very likely a squamous cell carcinoma of the lip.

The hereditary anemias are a relatively heterogeneous set of disorders that can show wide clinical and genetic heterogeneity, which often hampers correct clinical diagnosis. The classical diagnostic workflow for these conditions generally used to start with analysis of the family and personal histories, followed by biochemical and morphological evaluations, and ending with genetic testing. However, the diagnostic framework has changed more recently, and genetic testing is now a suitable approach for differential diagnosis of these patients. There are several approaches to this genetic testing, the choice of which depends on phenotyping, genetic heterogeneity, and gene size. For patients who show complete phenotyping, single-gene testing remains recommended. However, genetic analysis now includes next-generation sequencing, which is generally based on custom-designed targeting panels and whole-exome sequencing. The use of next-generation sequencing also allows the identification of new causative genes, and of polygenic conditions and genetic factors that modify disease severity of hereditary anemias. In the research field, whole-genome sequencing is useful for the identification of non-coding causative mutations, which might account for the disruption of transcriptional factor occupancy sites and cis-regulatory elements. Moreover, advances in high-throughput sequencing techniques have now resulted in the identification of genome-wide profiling of the chromatin structures known as the topologically associating domains. These represent a recurrent disease mechanism that exposes genes to inappropriate regulatory elements, causing errors in gene expression. This review focuses on the challenges of diagnosis and research into hereditary anemias, with indications of both the advantages and disadvantages. Finally, we consider the future perspectives for the use of next-generation sequencing technologies in this era of precision medicine.

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We asked a group of four researchers without experience in the field, to fill in the simplified Scoring Table based on Conversational Analysis principles. Researchers underwent a single-day training based on the linguistic differences in the event description by patients with epileptic seizures (ES) and psychogenic nonepileptic seizures (PNES). Two raters reached 100% agreement with the gold standard and even in the worst case the error was only 25%. This tool could be used for first screening, because it is very easy to administer, both for the interview and for the Scoring Table completion, confirming the usefulness of Conversation Analysis in differential diagnosis between ES and PNES.

Introduction: The hemangioma is the most common vascular tumor, involving the head and neck in 60% of cases. It is rare in the larynx. In children, hemangiomas are more frequent on the subglottis, whereas in adults the most common site is the supraglottis. Laryngeal hemangioma with cavernous features isolated to the free edge of the vocal fold is a very rare clinical finding. We present 2 cases of glottic hemangioma. Both patients reported severe hoarseness. Cases: In the first patient, an extensive blue-purple mass was seen on the right vocal cord. The patient was posted for microlaryngeal surgery with carbon dioxide (CO2) laser. Second patient had a large, smooth, flesh-colored polypoid mass emanating from the left vocal cord. The patient was posted for microlaryngeal surgery. After 2 months, both patients showed a considerable voice improvement. Discussion: Vocal cord hemangiomas are very rare, and they usually cause problem in the voice of the patient. A vascular lesion that may mimic a hemangioma may sometimes result from an organizing hematoma following a hemorrhage on the vocal cords due to voice abuse. Laryngeal hemangiomas also need to be distinguished pathologically from polypoidal vascular granulation tissue that may be produced by laryngeal biopsy, intubation, or trauma. Indirect endoscopy is enough to diagnosis. No active treatment is advised for adult laryngeal hemangiomas unless the lesions are symptomatic or show a tendency to involve other parts. There is no uniformly accepted treatment of head and neck hemangiomas. Surgical excision with laser CO2 microlaryngoscopic techniques gives satisfactory results.

Introduction: Cardiac [123I]metaiodobenzylguanidine scintigraphy (123I-MIBG) is considered a useful test in differentiating multiple system atrophy (MSA) and Lewy body disorders (LBD), including idiopathic Parkinson's disease (IPD), dementia with Lewy bodies (DLB) and pure autonomic failure (PAF). The detection of skin nerve phosphorylated α-synuclein (p-α-syn) deposits could be an alternative marker in vivo. We sought to compare 123I-MIBG scintigraphy and skin biopsy findings in α-synucleinopathies. Methods: We studied 54 patients (7 DLB, 21 IPD, 13 PAF, 13 MSA) who underwent 123I-MIBG scintigraphy and skin biopsy to evaluate cardiac innervation and skin p-α-syn deposition, respectively. Results: Cardiac denervation was observed in 90.5% IPD, 100% DLB and PAF and in none of the MSA patients (P < 0.0001) whereas p-α-syn deposits were detected in all DLB and PAF, in 95.2% of IPD and 69.2% of MSA patients (P = 0.02). However, the analysis of skin structures disclosed a different distribution of the deposits in somatic subepidermal plexus and autonomic fibers among groups, showing that p-α-syn deposits rarely affected the autonomic fibers in MSA as opposed to LBD. Studying the p-α-syn deposition in autonomic nerves, concordance among I123-MIBG scintigraphy and skin biopsy results was observed in 100% of DLB and PAF, 95.2% IPD and 92.3% MSA patients. I123-MIBG scintigraphy and autonomic p-α-syn deposits analysis both showed a sensitivity of 97.5% and a specificity of 100% and 92.3%, respectively, in distinguishing LBD and MSA. Conclusion: Skin biopsy and 123-MIBG scintigraphy can be considered alternative tests for the differential diagnosis of IPD, PAF and DLB versus MSA.

Tumor-like lesions of the upper limb are more frequent than malignant neoplastic lesions and they represent a wide and heterogeneous group of disorders. The combination of clinical evaluation and imaging is the first pivotal step to attempt a distinction between benign and malignant masses, since there are important implications for further management, such as the requirement for conservative or interventional treatment. The classification of these pseudo tumoral lumps remains arbitrary and is still a matter of debate, currently based on a conjunct clinico-radiologic approach. In this article, we review various types of tumor-like lesions of the upper limb in terms of imaging approach and related clinic features, proponing a descriptive classification, useful in clinical practice to recognize these disorders, and to avoid unnecessary or potentially harmful procedures.

Salivary gland pathologies in children are frequent, particularly viral infections, but rarely need cross-sectional imaging. However, when a mass involves the salivary spaces (primarily or as a secondary invasion from other neck spaces) it may pose problems in the differential diagnosis and in immediate management. Infrequently, systemic autoimmune diseases can also involve the salivary parenchyma in children and correctly interpreting the constellation of findings in the whole body is critical for the diagnosis. Distinguishing between cystic and solid masses is the first step for radiologists in order to narrow down the diagnosis. Location and spatial extension are the most important elements differentiating cystic masses, while signal characteristics, internal structure and local invasion help in the differential diagnosis of solid masses.

The salivary glands are key components of the mouth and play a central role in its physiology. Their importance may be appreciated considering their number, occurrence in pairs, and distribution in the mouth: two parotids, two submandibular, two sublingual, and many other small ones scattered throughout the mouth. They produce saliva, without which ingestion of non-liquid nutrients and speech would be practically impossible. Nevertheless, the physiology and pathology of salivary glands are poorly understood. For instance, tumors of salivary glands occur, and their incidence is on the rise, but their etiology and pathogenesis are virtually unknown, although some risk factors have been identified. Likewise, the role of the chaperoning system in the development, normal functioning, and pathology, including carcinogenesis, remains to be determined. This scarcity of basic knowledge impedes progress in diagnosis, disease monitoring, and therapeutics of salivary gland tumors. We are currently involved in examining the chaperoning system of human salivary glands and we performed a search of the literature to determine what has been reported relating to oncology. We found data pertaining to six components of the chaperone system, namely HSP27, HSP60, HSP70, HSP84, HSP86, and GRP78, and to another HSP, the heme-oxygenase H-O1, also named HSP32, which does not belong in the chaperoning system but seemed to have potential as a biomarker for diagnostic purposes as much as the HSP/chaperones mentioned above. The reported quantitative variations of the six chaperones were distinctive enough to distinguish malignant from benign tumors, suggesting that these molecules hold potential as biomarkers useful in differential diagnosis. Also, the quantitative variations described accompanying tumor development, as observed in cancers of other organs, encourages research to elucidate whether chaperones play a role in the initiation and/or progression of salivary gland tumors.

Summary. Intralabyrinthine schwannoma (ILS) is a rare benign tumor affecting cochlear and vestibular nerves, whose symptoms are generally unspecific and frequently responsible for a late diagnosis. Radiological examinations, with particular reference to magnetic resonance imaging (MRI), represent the only diagnostic technique to identify ILS. On computed tomography ILS can only be indirectly suspected by the presence of surrounding bone remodeling, whereas MRI provides direct visualization of the neoplasm as a filling defect within the labyrinth with vivid contrast enhancement. At the same time, MRI is also helpful in defining ILS anatomical extension into adjacent structures and in planning therapeutic management. Here we report three representative cases of ILS with new pictorial imaging features to improve ILS early detection and optimize subsequent therapeutic management. (www.actabiomedica.it).

Background Hypertrophic pachymeningitis (HP) and spontaneous intracranial hypotension are different treatable diseases, which should promptly be recognized and treated to prevent neurologic sequelae. Headache and dural enhancement are the main features of both diseases, thus differentiating between these 2 conditions can be difficult. Cases Description We present 2 cases with headache and dural enhancement, in which the differential diagnosis was challenging at presentation because, in both cases, clear positional pain modification was not reported. Each patient was referred to us with the suspicion of a diagnosis actually affecting the other one. Based on further findings, which supported diagnosis of spontaneous intracranial hypotension in the first case and of HP in the second one, we briefly review clinical, radiologic, and laboratory features, which can help in the differential diagnosis. Conclusions An accurate diagnostic workup is mandatory to distinguish among HP and intracranial hypotension.

Purpose: Breast traumas include road accident, assaults, falls or other minor events; the diagnosis is often delayed, despite several medical imaging techniques because of the priority to most relevant organs and anatomical districts involved in traumatic events. Aim of the study was to evaluate the imaging in breast traumas, the differential diagnosis and correlation with breast cancer and the medical or surgical management of each case described. Methods: We performed a retrospective study over a period between February 2010 to June 2017. All patients diagnosed with breast injuries were included in the study. Breast clinical examination, mammography, ultrasonography and, in selected cases, Magnetic Resonance (MRI) and ultrasound-guided fine needle aspiration cytology were used for the diagnosis. Logistic regression models were used to estimate unadjusted and adjusted odds ratio and corresponding 95% confidence interval. Results: Over the study period, 55 patients had a breast trauma; there were 12 cases of major event and 43 minor traumas. 2 males and 53 females have been included. Mean age was 47yo (range 27-71 yo). In 11 cases, surgical therapy was necessary, in 3 cases medical therapy and in 2 follow-up have been performed. In 10 cases, also a breast cancer has been diagnosed, but no association between breast trauma and the risk of breast cancer was observed (odds ratio: 0.85; IC 95%: 0.41-1.75; P: 0.665). Conclusion: Breast traumas are underestimated if a major event occurred; imaging diagnosis of breast trauma requires often a multimodality approach and can be difficult expecially if a breast cancer also occurs. A dedicated breast radiologist is necessary for a correct differential diagnosis and to palinify a terapeutical approach and follow-up.

Cyclic Vomiting Syndrome (CVS) is an underdiagnosed episodic syndrome characterized by frequent hospitalizations, multiple comorbidities, and poor quality of life. It is often misdiagnosed due to the unappreciated pattern of recurrence and lack of confirmatory testing. CVS mainly occurs in pre-school or early school-age, but infants and elderly onset have been also described. The etiopathogenesis is largely unknown, but it is likely to be multifactorial. Recent evidence suggests that aberrant brain-gut pathways, mitochondrial enzymopathies, gastrointestinal motility disorders, calcium channel abnormalities, and hyperactivity of the hypothalamic-pituitary-adrenal axis in response to a triggering environmental stimulus are involved. CVS is characterized by acute, stereotyped and recurrent episodes of intense nausea and incoercible vomiting with predictable periodicity and return to baseline health between episodes. A distinction with other differential diagnoses is a challenge for clinicians. Although extensive and invasive investigations should be avoided, baseline testing toward identifying organic causes is recommended in all children with CVS. The management of CVS requires an individually tailored therapy. Management of acute phase is mainly based on supportive and symptomatic care. Early intervention with abortive agents during the brief prodromal phase can be used to attempt to terminate the attack. During the interictal period, non-pharmacologic measures as lifestyle changes and the use of reassurance and anticipatory guidance seem to be effective as a preventive treatment. The indication for prophylactic pharmacotherapy depends on attack intensity and severity, the impairment of the QoL and if attack treatments are ineffective or cause side effects. When children remain refractory to acute or prophylactic treatment, or the episode differs from previous ones, the clinician should consider the possibility of an underlying disease and further mono- or combination therapy and psychotherapy can be guided by accompanying comorbidities and specific sub-phenotype. This review was developed by a joint task force of the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP) to identify relevant current issues and to propose future research directions on pediatric CVS.

A novel coronavirus (SARS-CoV-2) has been identified as the causative pathogen of an ongoing outbreak of respiratory disease, now named COVID-19. Most cases and sustained transmission occurred in China, but travel-associated cases have been reported in other countries, including Europe and Italy. Since the symptoms are similar to other respiratory infections, differential diagnosis in travellers arriving from countries with wide-spread COVID-19 must include other more common infections such as influenza and other respiratory tract diseases.

Central nervous system (CNS) tuberculosis (TB) is a great medical masquerader having a multi-spectral pattern of clinical presentation, thereby complicating early diagnosis and appropriate management. This review article describes clinical presentation of CNS TB in a group of 47 patients, who were managed in the Nobel Medical College and Teaching Hospital in Biratnagar, Nepal during the last 2years. We evaluated demographic profile, mode of management, and clinical outcome in these patients. The findings were that intracranial TB was present in 27 (57.5%) patients and the spinal involvement was in 20 (42.5%) patients. The most frequent presentation of the former was TB meningitis with hydrocephalus (55.5%) and that of the latter was Pott's spine with abscess in 50% of cases. TB meningitis with hydrocephalus was the commonest cause of mortality (83.3%) among the patients. CNS TB should be considered in the differential diagnosis in patients presenting with equivocal neurological signs and symptoms, especially in TB endemic regions. It seems prudent to commence early antitubercular therapy for safeguarding such patients from poor neurological outcome as well as mortality it harbingers.

Purpose: We aim to report the quality of accuracy studies investigating the utility of [18F]fluorodeoxyglucose (FDG)-PET in supporting the diagnosis of prodromal Alzheimer’s Disease (AD), frontotemporal lobar degeneration (FTLD) and prodromal dementia with Lewy bodies (DLB) in mild cognitive impairment (MCI) subjects, and the corresponding recommendations made by a panel of experts. Methods: Seven panellist, four from the European Association of Nuclear Medicine, and three from the European Academy of Neurology, produced recommendations taking into consideration the incremental value of FDG-PET, as added on clinical-neuropsychological examination, to ascertain the aetiology of MCI (AD, FTLD or DLB). A literature search using harmonized population, intervention, comparison, and outcome (PICO) strings was performed, and an evidence assessment consistent with the European Federation of Neurological Societies guidance was provided. The consensual recommendation was achieved based on Delphi rounds. Results: Fifty-four papers reported the comparison of interest. The selected papers allowed the identification of FDG patterns that characterized MCI due to AD, FTLD and DLB. While clinical outcome studies supporting the diagnosis of MCI due to AD showed varying accuracies (ranging from 58 to 100%) and varying areas under the receiver-operator characteristic curves (0.66 to 0.97), no respective data were identified for MCI due to FTLD or for MCI due to DLB. However, the high negative predictive value of FDG-PET and the existence of different disease-specific patterns of hypometabolism support the consensus recommendations for the clinical use of this imaging technique in MCI subjects. Conclusions: FDG-PET has clinical utility on a fair level of evidence in detecting MCI due to AD. Although promising also in detecting MCI due to FTLD and MCI due to DLB, more research is needed to ultimately judge the clinical utility of FDG-PET in these entities.

Highlights • Femoral lipoma can be mistaken with femoral hernia. • Differential diagnosis between femoral lipoma and femoral hernia can result challenging. • The occurrence of femoral pain can lead to misinterpretation of the symptoms., Introduction Lipoma of the femoral fossa is uncommon. Often asymptomatic, femoral lipoma may growth within the circumscribed space of the femoral fossa causing pain and discomfort. A worsening pain caused by a lipomatous mass in the femoral area is a clinical feature that can mislead the diagnosis, resembling the more common condition of femoral hernia. Methods Two cases of symptomatic lipomas of the femoral fossa mimicking an incarcerated femoral hernia are presented. In both, Caucasian female, patients clinical examination and ultrasound of the femoral region revealed a painful neoplasm suspected for incarcerated femoral hernia. Results Intraoperatively, a mass of encapsulated fat arising from the bottom of the fossa femoralis was found. No visceral protrusion through the femoral ring could be documented. The neoplasms were removed in toto. Histology of the excised specimens evidenced the diagnosis of femoral lipomas suffering by chronic compressive damages. In a midterm postoperative follow up, both patients were symptom- free. Discusion A correct preoperative diagnosis of femoral lipoma is challenging, even following an accurate diagnostic pathway. The cases highlighted herewith seem to confirm that lipoma of the femoral fossa can be mistaken with a femoral hernia. Conclusions The clinical and histological features evidenced could result helpful in the differentiation of a lipomatous mass of the femoral fossa from a genuine femoral hernia.

In GPR profiles, ice is usually imaged as a mostly electromagnetic transparent facies. However, diffraction events, as well as internal layering, can be also observed. In some cases, the bedrock below glaciers is masked by dense diffractions usually interpreted as the effect of liquid water pockets inside the so-called warm ice. However, the actual physical meaning of such GPR facies is not always obvious, because it can be related also to mixed debris and ice deposits. We adopted a strategy well known in medical sciences and referred as “differential diagnosis” in order to infer which is the actual meaning of a high scattering facies imaged within the Eastern Gran Zebru glacier (Central Italian Alps) and, more generally, of all the internal glacier features. In fact, in many cases, there is no direct information to limit the subjectivity of geophysical interpretation; therefore, we provide all the discriminative hypotheses based on both independent and integrated criteria including GPR attribute analysis, imaging effects, reflection analysis, GPR frequency evaluations combined with geomorphological and remote sensing data obtained by two photogrammetric UAV and thermal infrared surveys. On the basis of the differential diagnosis, we concluded that the high scattering zone embedded within the studied glacier is most likely related to a mixture of ice and debris probably formed during a past shrinking phase. Beside this case study, this approach could be helpful in other GPR glaciological surveys, in which the target is related not only to the bedrock detection, but also to a detailed analysis of the internal facies of a glacier.