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International Journal of Circumpolar... Dec 2024Telerehabilitation is proposed as a promising avenue to enhance service accessibility for Indigenous communities, yet its application for Indigenous children remains... (Review)
Review
Telerehabilitation is proposed as a promising avenue to enhance service accessibility for Indigenous communities, yet its application for Indigenous children remains relatively unexplored. This scoping review followed the PRISMA-ScR framework to explore current knowledge on the use of telerehabilitation for Indigenous children. Ten scholarly databases, seven grey literature databases, reference searches, and expert consultations were utilised to identify relevant studies. Included articles discussed the use of telerehabilitation provided by rehabilitation professionals (e.g. occupational therapist (OT), physical therapist (PT), speech and language pathologist (SLP) to Indigenous children and/or caregivers. Seven studies were included. Telerehabilitation was explored in different ways, the most common being real-time videoconferencing by SLPs. While some studies explicitly acknowledged cultural responsiveness within both the research process and the intervention, most were not designed for Indigenous children and their caregivers; rather, these participants were included with non-Indigenous participants. Successful implementation and sustainability of telerehabilitation services requires addressing technological limitations, understanding, and respecting diverse worldviews, and co-developing services to meet the unique needs of Indigenous families. Telerehabilitation has been rarely used with Indigenous children and when it was, little attention was given to cultural considerations. These findings emphasise that future telerehabilitation interventions should be truly community-led to ensure cultural relevance.
Topics: Child; Humans; Telemedicine; Videoconferencing; Caregivers
PubMed: 38320112
DOI: 10.1080/22423982.2024.2308944 -
American Journal of Speech-language... Jan 2024Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at... (Review)
Review
INTRODUCTION
Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
METHOD
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
RESULTS
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
CONCLUSIONS
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.24424555.
Topics: Child; Adolescent; Humans; United States; Goldenhar Syndrome; Speech; Speech Disorders; Communication Disorders; Phenotype
PubMed: 37931079
DOI: 10.1044/2023_AJSLP-23-00152 -
American Journal of Clinical Pathology Oct 2023This study aims to determine what pathologic and clinical factors differentiate Brachyspira species that may be useful to clinicians and pathologists.
Clinical and Pathologic Factors Associated With Colonic Spirochete (Brachyspira pilosicoli and Brachyspira aalborgi) Infection: A Comprehensive Systematic Review and Pooled Analysis.
OBJECTIVES
This study aims to determine what pathologic and clinical factors differentiate Brachyspira species that may be useful to clinicians and pathologists.
METHODS
We identified 21 studies of Brachyspira infection with individual patient information (n = 113) and conducted a pooled analysis comparing each species.
RESULTS
There were differences in the pathologic and clinical profiles of each Brachyspira species. Patients infected with Brachyspira pilosicoli infection were more likely to have diarrhea, fever, HIV, and immunocompromised conditions. Those patients infected with Brachyspira aalborgi were more likely to have lamina propria inflammation.
CONCLUSIONS
Our novel data provide potential insights into the pathogenic mechanism(s) and the specific risk factor profile of Brachyspira species. This may be clinically useful when assessing and managing patients.
Topics: Humans; Spirochaetales; Spirochaetales Infections; Brachyspira
PubMed: 37289435
DOI: 10.1093/ajcp/aqad063 -
International Journal of Molecular... Feb 2024Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular... (Review)
Review
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased's family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.
Topics: Humans; Arrhythmogenic Right Ventricular Dysplasia; Autopsy; Myocardium; Databases, Factual; Death, Sudden, Cardiac
PubMed: 38473714
DOI: 10.3390/ijms25052467 -
Multiple Sclerosis and Related Disorders Apr 2024It is uncommon for individuals with demyelinating disease, notably multiple sclerosis (MS), to be diagnosed with intracranial gliomas. It has been debated whether or not... (Review)
Review
BACKGROUND
It is uncommon for individuals with demyelinating disease, notably multiple sclerosis (MS), to be diagnosed with intracranial gliomas. It has been debated whether or not the concurrence of these two disorders is accidental. Clinically, it may be challenging to diagnose someone who has MS and an intracranial tumor simultaneously. We conducted this systematic review to evaluate the glioma patients following MS.
METHODS
We collected 63 studies from 1672 databases from January 1990 to February 2023, and our inclusion criteria involved peer-reviewed case reports/series studies reporting concurrent MS and glioma in patients, considering various types of gliomas.
RESULTS
We included 145 cases, 51% were women and 49 % were men, with an average age of 47.4 years. Common symptoms of glioma at admission included seizures (31.2 %), hemiparesis (15.6 %), and headache (14.3 %). 75 % of patients had primarily with relapsing-remitting MS (RRMS). MS treatments included interferon(IFN)-ß (44.6 %), glatiramer acetate (GA) (21.4 %), fingolimod (19.6 %), and natalizumab (19.6 %). The average time between MS and glioma diagnosis was 12.1 years, with various timeframes. Among the 59 reported cases, 45.8 % led to patient fatalities, while the remaining 54.2 % managed to survive.
CONCLUSION
This co-occurrence, though rare, suggests potential underlying shared mechanisms or vulnerabilities, possibly at a genetic or environmental level. An interdisciplinary approach, combining the expertise of neurologists, oncologists, radiologists, and pathologists, is vital to ensure accurate diagnosis and optimal management of affected individuals. Nonetheless, there is still a significant lack of information regarding this phenomenon, necessitating large-scale population-based studies and experimental research.
Topics: Male; Humans; Female; Middle Aged; Glatiramer Acetate; Multiple Sclerosis, Relapsing-Remitting; Natalizumab; Fingolimod Hydrochloride; Glioma; Multiple Sclerosis; Immunosuppressive Agents
PubMed: 38330723
DOI: 10.1016/j.msard.2024.105455 -
Neurogastroenterology and Motility Dec 2023Non-erosive reflux disease (NERD) accounts for over half of all gastroesophageal reflux cases and is characterized by reflux symptoms with pathologic acid exposure on pH... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND PURPOSE
Non-erosive reflux disease (NERD) accounts for over half of all gastroesophageal reflux cases and is characterized by reflux symptoms with pathologic acid exposure on pH monitoring but no evidence of erosions on upper endoscopy. Ambulatory pH monitoring is limited by availability and patient tolerance. The utility of performing esophageal mucosal biopsies in diagnosing NERD is unclear. We conducted a systematic review and meta-analysis to determine the sensitivity of esophageal mucosal biopsies in diagnosing NERD.
METHODS
Data were obtained from Embase and Ovid MEDLINE from inception to April 2021. Studies were included if esophageal mucosal biopsies were taken and analyzed using conventional histopathologic analysis in symptomatic NERD patients. Relevant data was including histologic abnormalities and location of the biopsy. Sensitivity and specificity were calculated against healthy controls or those with functional heartburn.
RESULTS
The search yielded 2871 studies, of which 10 studies met our inclusion criteria and contained raw data. Histological abnormalities included histologic sum scores, papillary elongation, basal cell hyperplasia, and dilated intraepithelial spaces. When assessing for the presence of any abnormality, biopsies taken <3 cm from the lower esophageal sphincter (LES) had a pooled sensitivity of 0.71 (95% CI 0.64-0.77) and specificity of 0.64 (95% 0.54-0.73); however, analysis of individual histologic features such as the presence of eosinophils improved the sensitivity.
CONCLUSIONS
Although esophageal mucosal biopsies had poor sensitivity at diagnosing NERD, biopsies taken within 3 cm of the LES had higher sensitivity when pathologists reported upon eosinophils and dilated intraepithelial spaces.
Topics: Humans; Gastroesophageal Reflux; Heartburn; Esophagitis, Peptic; Esophageal pH Monitoring; Endoscopy, Gastrointestinal
PubMed: 37448170
DOI: 10.1111/nmo.14631 -
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 -
Healthcare (Basel, Switzerland) Jun 2024To determine whether allied health interventions delivered using telehealth provide similar or better outcomes for patients compared with traditional face-to-face... (Review)
Review
To determine whether allied health interventions delivered using telehealth provide similar or better outcomes for patients compared with traditional face-to-face delivery modes. A rapid systematic review using the Cochrane methodology to extract eligible randomized trials. Trials were eligible for inclusion if they compared a comparable dose of face-to-face to telehealth interventions delivered by a neuropsychologist, occupational therapist, physiotherapist, podiatrist, psychologist, and/or speech pathologist; reported patient-level outcomes; and included adult participants. MEDLINE, CENTRAL, CINAHL, and EMBASE databases were first searched from inception for systematic reviews and eligible trials were extracted from these systematic reviews. These databases were then searched for randomized clinical trials published after the date of the most recent systematic review search in each discipline (2017). The reference lists of included trials were also hand-searched to identify potentially missed trials. The risk of bias was assessed using the Cochrane Risk of Bias Tool Version 1. Fifty-two trials (62 reports, = 4470) met the inclusion criteria. Populations included adults with musculoskeletal conditions, stroke, post-traumatic stress disorder, depression, and/or pain. Synchronous and asynchronous telehealth approaches were used with varied modalities that included telephone, videoconferencing, apps, web portals, and remote monitoring, Overall, telehealth delivered similar improvements to face-to-face interventions for knee range, Health-Related Quality of Life, pain, language function, depression, anxiety, and Post-Traumatic Stress Disorder. This meta-analysis was limited for some outcomes and disciplines such as occupational therapy and speech pathology. Telehealth was safe and similar levels of satisfaction and adherence were found across modes of delivery and disciplines compared to face-to-face interventions. Many allied health interventions are equally as effective as face-to-face when delivered via telehealth. Incorporating telehealth into models of care may afford greater access to allied health professionals, however further comparative research is still required. In particular, significant gaps exist in our understanding of the efficacy of telehealth from podiatrists, occupational therapists, speech pathologists, and neuropsychologists. PROSPERO (CRD42020203128).
PubMed: 38921331
DOI: 10.3390/healthcare12121217 -
Diagnostics (Basel, Switzerland) Feb 2024Digital pathology (DP) has begun to play a key role in the evaluation of liver specimens. Recent studies have shown that a workflow that combines DP and artificial... (Review)
Review
Digital pathology (DP) has begun to play a key role in the evaluation of liver specimens. Recent studies have shown that a workflow that combines DP and artificial intelligence (AI) applied to histopathology has potential value in supporting the diagnosis, treatment evaluation, and prognosis prediction of liver diseases. Here, we provide a systematic review of the use of this workflow in the field of hepatology. Based on the PRISMA 2020 criteria, a search of the PubMed, SCOPUS, and Embase electronic databases was conducted, applying inclusion/exclusion filters. The articles were evaluated by two independent reviewers, who extracted the specifications and objectives of each study, the AI tools used, and the results obtained. From the 266 initial records identified, 25 eligible studies were selected, mainly conducted on human liver tissues. Most of the studies were performed using whole-slide imaging systems for imaging acquisition and applying different machine learning and deep learning methods for image pre-processing, segmentation, feature extractions, and classification. Of note, most of the studies selected demonstrated good performance as classifiers of liver histological images compared to pathologist annotations. Promising results to date bode well for the not-too-distant inclusion of these techniques in clinical practice.
PubMed: 38396427
DOI: 10.3390/diagnostics14040388 -
Journal of the American Academy of... Jan 2024Proliferating pilar tumors (PPTs) are rare cutaneous neoplasms arising from hair follicles that have both malignant and metastatic potential. (Review)
Review
BACKGROUND
Proliferating pilar tumors (PPTs) are rare cutaneous neoplasms arising from hair follicles that have both malignant and metastatic potential.
OBJECTIVE
To present a systematic review of the epidemiology, clinical characteristics, and treatment and outcome data on PPTs.
METHODS
Using the OVID platform, MEDLINE and Embase were searched from inception until May 26, 2022. All studies that provided original data on PPTs in English were included. References of these studies were also cross-checked to identify any additional relevant articles. Oxford's Levels of Evidence-Based Medicine was used for quality assessment.
RESULTS
A total of 114 articles, providing data on 361 cases of PPTs, were included in our synthesis. Every study included was either a case series or case report. The mean age at diagnosis was 61.7. Most patients in the synthesis were female (71%), and the majority of cases occurred on the scalp (73.1%). The presence or absence of cytological atypia was only reported in one-third of the cases; 36.8% of cases were classified as malignant and 7.5% metastasized. Although no lesions treated with Mohs micrographic surgery required adjuvant radiation and only one reported recurrence occurred after Mohs surgery, there is insufficient data to make conclusions on a superior treatment modality.
LIMITATIONS
All studies in this review were either case reports or case series.
CONCLUSIONS AND RELEVANCE
Our study supports the notion that PPTs occur most commonly on the scalp of elderly female patients. Moreover, our findings confirm that PPT is capable of demonstrating aggressive biology and metastasis. Given the lack of uniformity in histologic description, pathologists should be encouraged to comment on the presence and degree of cytological atypia when reporting cases of rare neoplasms such as the PPT. Greater consensus on diagnosis and classification as well as more robust data is needed regarding optimal management.
Topics: Aged; Female; Humans; Male; Hair Diseases; Hair Follicle; Neoplasms, Adnexal and Skin Appendage; Radiotherapy, Adjuvant; Skin Neoplasms
PubMed: 37364614
DOI: 10.1016/j.jaad.2023.05.097