Diagnosis of anal human papillomavirus infection: polymerase chain reaction or cytology?

Summary Objectives To investigate the relationship between human immunodeficiency virus (HIV)-positive and HIV-negative patients engaging in promiscuous behaviors and anal human papillomavirus (HPV) infection diagnosed by polymerase chain reaction (PCR) and cytology. Methods Fifty-six HIV-positive patients and 49 HIV-negative patients who engaged in sexually promiscuous behavior were enrolled in the study. We performed cytological exams using the Pap smear and PCR for HPV-DNA detection, with identification of oncogenic strains. The 2001 Bethesda System terminology was used for the cytological exams. We also evaluated the immunologic status of the HIV-infected patients. Results PCR positivity for HPV-DNA was higher in the group of HIV-positive patients than in the group of HIV-negative patients with a statistically significant difference. In contrast we did not find any statistically significant difference by cytological exam. Oncogenic strains were equally distributed in the two groups. Conclusions Our results indicate the importance of the cytological exam for anal HPV screening in the population at high risk of sexually transmitted disease and that HPV-DNA PCR can be used only as adjunct test

Clinical correlates of "pure" essential tremor: the TITAN study

BackgroundTo date, there are no large studies delineating the clinical correlates of "pure" essential tremor (ET) according to its new definition.MethodsFrom the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of "pure" ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum.ResultsOut of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.8%) "pure" ET patients (86M/122F) were analyzed. The distribution of age at onset was found to be bimodal. The proportion of familial cases by the age-at-onset class of 20 years showed significant differences, with sporadic cases representing the large majority of the class with an age at onset above 60 years. Patients with a positive family history of tremor had a younger onset and were more likely to have leg involvement than sporadic patients despite a similar disease duration. Early-onset and late-onset cases were different in terms of tremor distribution at onset and tremor severity, likely as a function of longer disease duration, yet without differences in terms of quality of life, which suggests a relatively benign progression. Treatment patterns and outcomes revealed that up to 40% of the sample was unsatisfied with the current pharmacological options.DiscussionThe findings reported in the study provide new insights, especially with regard to a possible inversed sex distribution, and to the genetic backgrounds of "pure" ET, given that familial cases were evenly distributed across age-at-onset classes of 20 years. Deep clinical profiling of "pure" ET, for instance, according to age at onset, might increase the clinical value of this syndrome in identifying pathogenetic hypotheses and therapeutic strategies

First molecular identification of the zoonotic parasite Anisakis pegreffii (Nematoda: Anisakidae) in a paraffin-embedded granuloma taken from a case of human intestinal anisakiasis in Italy

<p>Abstract</p> <p>Background</p> <p>Anisakiasis is an important fish-borne zoonosis provoked by larval stages of nematodes belonging to the genus <it>Anisakis</it>. The detection and identification of human infections is difficult. This is due to: a) the low specificity of the clinical features and symptomatology related to human infections; b) the paucity of diagnostic features of larvae found in granulomatous lesions characteristic of "invasive anisakiasis"; and c) the lack morphological characters diagnostic at the specific level when larvae of <it>Anisakis </it>are detected. Thus, molecular-based diagnostic approaches are warranted.</p> <p>Method</p> <p>We have developed a PCR method that amplifies the DNA of <it>Anisakis </it>spp. in fixed paraffin-embedded tissues. This method was applied to a granuloma removed from a human case of intestinal anisakiasis in Italy. Specific primers of the mtDNA <it>cox2 </it>gene were used and sequence analysis was performed according to the procedures already established for species of <it>Anisakis</it>.</p> <p>Results</p> <p>The sequence obtained (629 bp) was compared with those of the other species of <it>Anisakis </it>which have so far been genetically characterized and with sequences obtained from larval stages of <it>Anisakis </it>collected from the Mediterranean fish <it>Engraulis encrasicolus</it>. This enabled the genetic identification of the larva in the human tissue as <it>A. pegreffii</it>. This is the first instance of human intestinal anisakiasis diagnosed using PCR of DNA purified from a fixed eosinophilic granuloma embedded in paraffin.</p> <p>Conclusion</p> <p>The case of human anisakiasis presented reinforces the pathological significance of the species <it>A. pegreffii </it>to humans. The molecular/genetic methodological approach based on mtDNA <it>cox2 </it>sequence analysis, described here, can allow easy and rapid identification of <it>Anisakis </it>spp. in formalin-fixed and paraffin embedded tissues removed from cases of either gastric or intestinal human anisakiasis.</p

Clinical correlates of “pure” essential tremor: the TITAN study

BackgroundTo date, there are no large studies delineating the clinical correlates of “pure” essential tremor (ET) according to its new definition.MethodsFrom the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of “pure” ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum.ResultsOut of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.8%) “pure” ET patients (86M/122F) were analyzed. The distribution of age at onset was found to be bimodal. The proportion of familial cases by the age-at-onset class of 20 years showed significant differences, with sporadic cases representing the large majority of the class with an age at onset above 60 years. Patients with a positive family history of tremor had a younger onset and were more likely to have leg involvement than sporadic patients despite a similar disease duration. Early-onset and late-onset cases were different in terms of tremor distribution at onset and tremor severity, likely as a function of longer disease duration, yet without differences in terms of quality of life, which suggests a relatively benign progression. Treatment patterns and outcomes revealed that up to 40% of the sample was unsatisfied with the current pharmacological options.DiscussionThe findings reported in the study provide new insights, especially with regard to a possible inversed sex distribution, and to the genetic backgrounds of “pure” ET, given that familial cases were evenly distributed across age-at-onset classes of 20 years. Deep clinical profiling of “pure” ET, for instance, according to age at onset, might increase the clinical value of this syndrome in identifying pathogenetic hypotheses and therapeutic strategies

Clinical neurophysiology and imaging of nerve injuries: preoperative diagnostic work-up and postoperative monitoring

Peripheral nerve injuries are a heterogeneous group of lesions that may occurs secondary to various causes. Several different classifications have been used to describe the pathophysiological mechanisms leading to the clinical deficit, from simple and reversible compression-induced demyelination, to complete transection of nerve axons. Neurophysiological data localize, quantify, and qualify (demyelination vs. axonal loss) the clinical and subclinical deficits. High-resolution ultrasound can demonstrate the morphological extent of nerve damage, fascicular echotexture (epineurium vs. perineurium, focal alteration of the cross-section of the nerve, any neuromas, etc.), and the surrounding tissues. High field magnetic resonance imaging provides high contrast neurography by fat suppression sequences and shows structural connectivity through the use of diffusion-weighted sequences. The aim of this review is to provide clinical guidelines for the diagnosis of nerve injuries, and the rationale for instrumental evaluation in the preoperative and postoperative periods. While history and clinical approach guide neurophysiological examination, nerve conduction and electromyography studies provide functional information on conduction slowing and denervation to assist in monitoring the onset of re-innervation. High-resolution nerve imaging complements neurophysiological data and allows direct visualization of the nerve injury while providing insight into its cause and facilitating surgical treatment planning. Indications and limits of each instrumental examination are discussed

Clinical expression of insulin resistance in hepatitis C and B virus-related chronic hepatitis: Differences and similarities

AIM: To investigate the prevalence of the clinical parameters of insulin resistance and diabetes in patients affected by chronic hepatitis C (CHC) or chronic hepatitis B (CHB)

Motor and Non-motor Effects of PPN-DBS in PD Patients: Insights from Intra-operative Electrophysiology

Three decades of basic research have focused on the multiple functions sub-served by the pedunculopontine nucleus (PPN) in mammals. Yet, far from understood is the impact that lesioning PPN or modulating PPN-fugal pathways have on motor, limbic and/or associative domains. Recently, we have pioneered the low-frequency deep brain stimulation (DBS) of pontine tegmental areas in severely parkinsonian patients, aiming at providing new insights in the knowledge of this puzzling region. Here we show that, under PPN-DBS, significant amelioration of axial and hypokinetic signs occurs (although to a lesser extent than following STN- DBS in the same patients), together with a normalization of the spinal H reflex. Furthermore, PPN-DBS improves REM sleep behaviour disorder and attentive and cognitive executive performances. As a first step to understand the limited motor response to PPN-DBS, systematic intra-operative recordings in STN were performed during PPN-DBS at 25 Hz. Almost each STN cell showed significant and long-lasting changes of the mean firing frequency during PPN stimulation. However, PPN-ON caused two conflicting effects: a dramatic decrease of the ongoing firing in bursting STN neurons and a large excitatory effect in irregular and tonic neurons. If dampening of STN bursting units seems to be in accord with the PPN therapeutic role, the simultaneous excit- atory influence in non-bursting cells might counteract the efficacy on motor signs. As a further step to understand the mechanisms underlying non-motor bene- fits, FDG-PET imaging was routinely performed in different conditions (PPN- OFF, PPN-ON). These investigations might clarify whether PPN-ON influences the subcortico-cortical pathways responsible for learning processes and goal- directed behaviours. Preliminary data confirm the possibility that PPN-DBS affects multiple ascending pathways involving intralaminar thalamic nuclei and the ventral tegmental area

Anorectal function and quality of life after chemoradiotherapy in patients with canal carcinoma

Background A retrospective study was conducted to evaluate sphincter function and quality of life (QoL) in patients treated with radiotherapy and concurrent chemotherapy (CRT) for anal canal cancer. Materials and Methods From 1998 to 2010, patients with anal canal cancer treated with CRT were eligible. Radiation dose was 59.4 Gy (1.8 Gy/ fraction) and the chemotherapy regimen was 5-fluorouracil and mitomycin C. Anorectal function was investigated by anorectal manometry and transrectal ultrasound. QoL was assessed with the European Organization for Research and Treatment of Cancer (EORTC) QLQ-C29 questionnaire. Correlations between diagnostic parameters and patient-reported outcomes were evaluated. Results Eighteen patients were enrolled. Overall, 4 patients had stage I disease, 8 stage II and 6 stage III. Anorectal manometry parameters were significantly lower compared to healthy scores. Patients-reported continence was significantly higher than fecal incontinence manometry scores. Ultrasound sphincter complex defects were recorded in 17 patients. Globally, a positive correlation was described between resting pressure of manometric exam and sexual functioning items and sphincter complex and patient-reported flatulence, respectively. Conclusions Definitive CRT represents the standard of care for anal canal cancer. Patients experienced low rates of fecal incontinence compared with results of diagnostic exams. Further studies are needed to better define toxicity and QoL after definitive CRT in anal canal cancer