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International Journal of Molecular... Jan 2024Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be... (Review)
Review
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype-phenotype correlation, which is useful for clinical research.
Topics: Humans; Cardiomyopathy, Hypertrophic; Genetic Testing; Arrhythmias, Cardiac; Autopsy; Fibrosis; Phenotype; Death, Sudden, Cardiac
PubMed: 38279275
DOI: 10.3390/ijms25021275 -
Cancer Management and Research 2022Lymph node metastasis (LNM) from primary tumors of the central nervous system (CNS) is an infrequent condition, and classically it was thought that CNS tumors could not... (Review)
Review
INTRODUCTION
Lymph node metastasis (LNM) from primary tumors of the central nervous system (CNS) is an infrequent condition, and classically it was thought that CNS tumors could not spread via the lymphatic route. Recent discoveries about this route of dissemination make its knowledge necessary for surgeons and pathologists to avoid delays in diagnosis and unnecessary treatments. The aim of this paper is to review the literature and to discuss the relevant pathogenetic mechanism and the cytologic features along with recommendations for surgical treatment of these cervical LNM.
MATERIALS AND METHODS
Using PRISMA guidelines, we conducted a systematic review of the literature published from 1944 to 2021, updating the comprehensive review published in 2010 by our group.
RESULTS
Our review includes data of 143 articles obtaining 174 patients with LNM from a primary CNS tumor. The mean age of the patients was 31.9 years (range, 0.1-87) and there were 61 females (35.1%) and 103 males (59.2%), and in 10 cases (5.7%) the gender was not specified. The more frequent sites of distant metastasis were bones (23%), lungs (11.5%) and non-cervical lymph nodes (11%).
CONCLUSION
Cervical LNM from CNS tumors is infrequent. Pathologic diagnosis can be obtained by fine-needle aspiration cytology in most cases, giving surgeons the option to plan the appropriate surgical treatment. Given the poor prognosis of these cases, the most conservative possible cervical dissection is usually the treatment of choice.
PubMed: 35300060
DOI: 10.2147/CMAR.S348102 -
Legal Medicine (Tokyo, Japan) Jun 2024Suicidal hanging resulting in decapitation is rarely documented. This discussion involves a case of a 35-year-old man found decapitated in his residence's garden. A... (Review)
Review
INTRODUCTION
Suicidal hanging resulting in decapitation is rarely documented. This discussion involves a case of a 35-year-old man found decapitated in his residence's garden. A systematic literature review on hanging-induced decapitation was conducted to comprehensively investigate and compare the case to existing literature. The study aims to identify frequently described post-mortem findings in cases of suicidal hanging leading to decapitation.
CASE REPORT
A 35-year-old man was found decapitated in his garden, with a jute strap and chimney debris nearby. The cervical region was completely severed along the dorsoventral and craniocaudal plane, exposing internal structures. A ligature mark was present, along with Amussat's sign and Simon's bleeding.
METHODS
The systematic review of the literature followed PRISMA standards, analyzing 3622 publications from Google Scholar, PubMed, and Scopus databases up to 2023. Inclusion criteria comprised cases of complete or incomplete decapitation resulting from hanging, available in full-text and written in English.
RESULTS
16 articles on hanging-induced decapitation met the selection criteria; 22 cases were analyzed. Studies, mostly from Europe, showed a mean victim age of 44.3, all male. Fall height ranged from 1 m to 18 m, with various suspension media. Most cases displayed complete decapitation, primarily between cervical vertebrae C1 and C3. Some cases noted collateral findings.
CONCLUSIONS
Complete crime scene investigation and thorough post-mortem examination are crucial for reconstructing events, especially with confounding elements. Precise evidence collection and literature comparison are essential to understand the case and substantiate the forensic pathologist's hypothesis in court.
PubMed: 38838410
DOI: 10.1016/j.legalmed.2024.102464 -
International Journal of Molecular... May 2024Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is a novel and uncommon type of renal cell carcinoma, which has been recently recognized and introduced as a... (Meta-Analysis)
Meta-Analysis
Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is a novel and uncommon type of renal cell carcinoma, which has been recently recognized and introduced as a distinct entity in the WHO 2022 kidney tumor classification. Previously known as "unclassified RCC", followed by "tuberous sclerosis complex (TSC)-associated RCC", ESC-RCC is now a distinct category of kidney tumor, with its own name, with specific clinical manifestations, and a unique morphological, immunohistochemical and molecular profile. Due to its recent introduction and the limited available data, the diagnosis of ESC-RCC is still a complex challenge, and it is probably frequently misdiagnosed. The secret of diagnosing this tumor lies in the pathologists' knowledge, and keeping it up to date through research, thereby limiting the use of outdated nomenclature. The aim of our case-based review is to provide a better understanding of this pathology and to enrich the literature with a new case report, which has some particularities compared to the existing cases.
Topics: Humans; Carcinoma, Renal Cell; Kidney Neoplasms; Eosinophilia; Male
PubMed: 38892169
DOI: 10.3390/ijms25115982 -
Modern Pathology : An Official Journal... Jun 2022Ki-67 assessment is a key step in the diagnosis of neuroendocrine neoplasms (NENs) from all anatomic locations. Several challenges exist related to quantifying the Ki-67... (Meta-Analysis)
Meta-Analysis Review
Ki-67 assessment is a key step in the diagnosis of neuroendocrine neoplasms (NENs) from all anatomic locations. Several challenges exist related to quantifying the Ki-67 proliferation index due to lack of method standardization and inter-reader variability. The application of digital pathology coupled with machine learning has been shown to be highly accurate and reproducible for the evaluation of Ki-67 in NENs. We systematically reviewed all published studies on the subject of Ki-67 assessment in pancreatic NENs (PanNENs) employing digital image analysis (DIA). The most common advantages of DIA were improvement in the standardization and reliability of Ki-67 evaluation, as well as its speed and practicality, compared to the current gold standard approach of manual counts from captured images, which is cumbersome and time consuming. The main limitations were attributed to higher costs, lack of widespread availability (as of yet), operator qualification and training issues (if it is not done by pathologists), and most importantly, the drawback of image algorithms counting contaminating non-neoplastic cells and other signals like hemosiderin. However, solutions are rapidly developing for all of these challenging issues. A comparative meta-analysis for DIA versus manual counting shows very high concordance (global coefficient of concordance: 0.94, 95% CI: 0.83-0.98) between these two modalities. These findings support the widespread adoption of validated DIA methods for Ki-67 assessment in PanNENs, provided that measures are in place to ensure counting of only tumor cells either by software modifications or education of non-pathologist operators, as well as selection of standard regions of interest for analysis. NENs, being cellular and monotonous neoplasms, are naturally more amenable to Ki-67 assessment. However, lessons of this review may be applicable to other neoplasms where proliferation activity has become an integral part of theranostic evaluation including breast, brain, and hematolymphoid neoplasms.
Topics: Biomarkers, Tumor; Breast Neoplasms; Cell Proliferation; Female; Humans; Image Processing, Computer-Assisted; Ki-67 Antigen; Neuroendocrine Tumors; Pancreatic Neoplasms; Reproducibility of Results
PubMed: 35249100
DOI: 10.1038/s41379-022-01055-1 -
Diagnostics (Basel, Switzerland) May 2024Sudden unexpected deaths often remain unresolved despite forensic examination, posing challenges for pathologists. Molecular autopsy, through genetic testing, can reveal... (Review)
Review
Sudden unexpected deaths often remain unresolved despite forensic examination, posing challenges for pathologists. Molecular autopsy, through genetic testing, can reveal hidden causes undetectable by standard methods. This review assesses the role of molecular autopsy in clarifying SUD cases, examining its methodology, utility, and effectiveness in autopsy practice. This systematic review followed PRISMA guidelines and was registered with PROSPERO (registration number: CRD42024499832). Searches on PubMed, Scopus, and Web of Science identified English studies (2018-2023) on molecular autopsy in sudden death cases. Data from selected studies were recorded and filtered based on inclusion/exclusion criteria. Descriptive statistics analyzed the study scope, tissue usage, publication countries, and journals. A total of 1759 publications from the past 5 years were found, with 30 duplicates excluded. After detailed consideration, 1645 publications were also excluded, leaving 84 full-text articles for selection. Out of these, 37 full-text articles were chosen for analysis. Different study types were analyzed. Mutations were identified in 17 studies, totaling 47 mutations. Molecular investigations are essential when standard exams fall short in determining sudden death causes. Expertise in molecular biology is crucial due to diverse genetic conditions. Discrepancies in post-mortem protocols affect the validity of results, making standardization necessary. Multidisciplinary approaches and the analysis of different tissue types are vital.
PubMed: 38893676
DOI: 10.3390/diagnostics14111151 -
Pathogens (Basel, Switzerland) Apr 2023The COVID-19 pandemic raised concerns about the potential for co-infection or over-infection with other respiratory infections, as they can complicate the diagnosis,... (Review)
Review
The COVID-19 pandemic raised concerns about the potential for co-infection or over-infection with other respiratory infections, as they can complicate the diagnosis, treatment and prognosis of the disease. This is also a challenge for forensic pathologists, who may come across cases where the presence of co-infection or over-infection is suspected or confirmed, and it is important that they take this into account when determining the cause of death. The aim of this systematic review is to analyse the prevalence of each specific pathogen co-infecting or over-infecting patients with SARS-CoV-2 infection. In total, 575 studies were selected from the Scopus and Pub-Med online databases and 8 studies were included in a meta-analysis. Male gender, advanced age and nursing home care are risk factors associated with the development of co-infection, whereas age, tachypnoea, hypoxaemia and bacterial infection are predictors of mortality. Overall, however, having a SARS-CoV-2 infection does not represent a real risk for the development of co-infections/super-infections.
PubMed: 37242315
DOI: 10.3390/pathogens12050646 -
Global Spine Journal Sep 2022Systematic review. Surgical decompression for degenerative cervical myelopathy (DCM) is associated with perioperative complications, including difficulty or discomfort...
STUDY DESIGN
Systematic review. Surgical decompression for degenerative cervical myelopathy (DCM) is associated with perioperative complications, including difficulty or discomfort with swallowing (dysphagia) as well as changes in sound production (dysphonia). This systematic review aims to (1) outline how dysphagia and dysphonia are defined in the literature and (2) assess the quality of definitions using a novel 4-point rating system.
METHODS
An electronic database search was conducted for studies that reported on dysphagia, dysphonia or other related complications of DCM surgery. Data extracted included study design, surgical details, as well as definitions and rates of surgical complications. A 4-point rating scale was developed to assess the quality of definitions for each complication.
RESULTS
Our search yielded 2,673 unique citations, 11 of which met eligibility criteria and were summarized in this review. Defined complications included odynophagia (n = 1), dysphagia (n = 11), dysphonia (n = 2), perioperative swelling complications (n = 2), and soft tissue swelling (n = 3). Rates of dysphagia varied substantially (0.0%-50.0%) depending on whether this complication was patient-reported (4.4%); patient-reported using a modified Swallowing Quality of Life questionnaire (43.1%) or the Bazaz criteria (8.8%-50.0%); or diagnosed using an extensive protocol consisting of clinical assessment, a bedside swallowing test, evaluation by a speech and language pathologist and a modified barium swallowing test/fiberoptic endoscopy (42.9%). The reported incidences of dysphonia also ranged significantly from 0.6% to 38.0%.
CONCLUSION
There is substantial variability in reported rates of dysphagia and dysphonia due to differences in data collection methods, diagnostic strategies, and definitions. Consolidation of nomenclature will improve evaluation of the overall safety of surgery.
PubMed: 34409882
DOI: 10.1177/21925682211035714 -
The Australian Journal of Rural Health Jun 2022To identify the attitudes and perspectives of speech pathologists, occupational therapists and physiotherapists on using telehealth videoconferencing for service... (Review)
Review
What are the perspectives of speech pathologists, occupational therapists and physiotherapists on using telehealth videoconferencing for service delivery to children with developmental delays? A systematic review of the literature.
OBJECTIVE
To identify the attitudes and perspectives of speech pathologists, occupational therapists and physiotherapists on using telehealth videoconferencing for service delivery to children with developmental delays.
DESIGN
Systematic Literature Review.
METHOD
An electronic search of databases Scopus, CINAHL, MEDLINE, PEDro, Speechbite, OTseeker and ScienceDirect was undertaken in October 2020. Articles were compared with eligibility criteria by 2 authors. All articles were appraised for quality and level of evidence.
FINDINGS
Fourteen studies were deemed to be eligible. Results were synthesised using a narrative analysis. The themes identified were technology, self-efficacy, replacement of face-to-face services, time management, relationships, access and family-centred care. Each of these themes was seen as both a potential barrier and a facilitator when trying to provide services via telehealth.
CONCLUSIONS
The results in this review cannot be generalised due to small sampling size, low response rates, lack of maximum variation sampling and under-representation of occupational therapists and physiotherapists. Study design was either mixed-methods survey or interview or only survey or interview. Risk of bias in studies was high. Further research is required including comparison studies and cost-benefit analysis.
Topics: Child; Humans; Occupational Therapists; Pathologists; Physical Therapists; Speech; Telemedicine; Videoconferencing
PubMed: 35157335
DOI: 10.1111/ajr.12843 -
Cancer Reports (Hoboken, N.J.) Jul 2022Tracheal chondrosarcoma is a rare malignancy, and formal treatment guidelines have not been established due to the lack of high quality studies. Best evidence at this...
BACKGROUND
Tracheal chondrosarcoma is a rare malignancy, and formal treatment guidelines have not been established due to the lack of high quality studies. Best evidence at this time is limited to case reports.
AIM
Explore the role of surgical intervention, radiation therapy, and chemotherapy, and the long-term outcomes for these interventions for tracheal chondrosarcoma.
METHODS AND RESULTS
A literature search was performed using PubMed (1959-2020) and ResearchGate (1959-2020) using medical subject heading terms "tracheal chondrosarcoma" OR "trachea chondrosarcoma." Additional reports were identified within reviewed articles and included for review. Articles pertaining to chondrosarcomas of the lung, bronchus, larynx, or other head and neck subsites were excluded. Cases of chondromas were excluded. Thirty-five patients with tracheal chondrosarcoma were identified in the literature since 1959. Advanced age was significantly associated with recurrent or persistent disease (p = .003). The majority (77%) of cases were treated with open surgical resection, with an open approach and negative surgical margins being significantly associated with being disease-free after treatment (p = .001 and p < .001, respectively). Adjuvant radiotherapy was reserved for those unfit for surgery or for recurrent disease. Tumor size, extra-tracheal extension, tumor calcification, location, and initial diagnosis were not associated with tumor recurrence.
CONCLUSION
Non-metastatic tracheal chondrosarcoma can be treated by adequate surgical resection, with little to no role for adjuvant radiotherapy or chemotherapy. Open surgery and negative margins were associated with oncologic control, while advanced age was associated with recurrent or persistent disease.
Topics: Bone Neoplasms; Chondrosarcoma; Disease-Free Survival; Humans; Radiotherapy, Adjuvant; Trachea
PubMed: 34476908
DOI: 10.1002/cnr2.1537