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Reproductive Sciences (Thousand Oaks,... Jul 2020Transvaginal ultrasound (TVUS) and MRI are currently two mainstream imaging techniques used to diagnose deep endometriosis (DE) with comparable accuracy, but there is...
Transvaginal ultrasound (TVUS) and MRI are currently two mainstream imaging techniques used to diagnose deep endometriosis (DE) with comparable accuracy, but there is still ample room for improvement. As endometriotic lesions progress to fibrosis concomitant with the increase in tissue stiffness, transvaginal elastosonography (TVESG) is well-suited for diagnosing DE. To test the hypothesis that lesional stiffness as measured by TVESG correlates with the extent of lesional fibrosis, the markers of progression, hormonal receptor expression, and vascularity, we recruited 30 patients suspected to have DE who went through pelvic examination, TVUS and/or MRI, and TVESG and were ultimately diagnosed by histology. Their lesional tissue samples were subjected to immunohistochemistry analysis of markers for epithelial-mesenchymal transition (EMT), fibroblast-to-myofibroblast transdifferentiation (FMT), estrogen and progesterone receptors (ERβ and PR), microvessel density (MVD), and vascularity, as well as quantification of lesional fibrosis. We found that pelvic examination, TVUS, and MRI detected 83.3%, 66.7%, and 83.3% of all DE cases, respectively, while TVESG detected them all. The lesions missed by pelvic exam, TVUS and MRI were significantly smaller than those detected but nonetheless had higher lesional stiffness. Lesional stiffness correlated closely and positively with the extent of lesional fibrosis, negatively with the markers of EMT, MVD, vascularity, and PR expression, but positively with the marker for FMT and ERβ. Thus, through the additional use of information on differential stiffness between DE lesions and their surrounding tissues, TVESG improves diagnostic accuracy, provides a ballpark estimate on the developmental stage of the lesions, and may help clinicians choose the best treatment modality.
Topics: Adult; Elasticity Imaging Techniques; Endometriosis; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Vagina; Young Adult
PubMed: 32333226
DOI: 10.1007/s43032-019-00108-2 -
Acta Cytologica 2022Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by... (Review)
Review
BACKGROUND
Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by heterogenous clinical presentation and overlapping microscopic features of small, round, primitive cells. In addition to the recently established certain genetically defined subset of undifferentiated round cell sarcomas of soft tissue and bone, this group of sarcomas include desmoplastic small round cell tumor, poorly differentiated synovial sarcoma, alveolar rhabdomyosarcoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Although, those entities share clinical and cytomorphologic features and cannot be unequivocally classified based on clinical presentation and morphology alone. Most of SRCSs characterizes of particular patterns of protein expression or genetic changes and ancillary tests remain necessary to confirm or rule out a specific diagnosis. Subtle but occasionally distinctive cytologic features narrows the number of differential diagnoses and helps to select appropriate ancillary tests necessary for the final diagnosis. Thus, when adequate fine needle aspiration (FNA) biopsy specimen is combined with ancillary tests, a specific histologic diagnosis can be made in almost all cases. However, due to complex cytologic features of SRCS as well as various quality and diversity of FNA smears, there are cases in that cytologic features which do not entirely match the known diagnostic criteria.
SUMMARY
The aim of this review was to summarize cytomorphologic criteria and to present rare and divergent cytological features of SRCSs. Careful assessment of clinical presentation, cytological features, immunohistochemical patterns, and molecular alternations is necessary for an accurate diagnosis. Knowing of rare and divergent microscopic findings that does not fit with the known cytological criteria will help to avoid misdiagnosis.
KEY MESSAGES
The role of FNA biopsies diagnosing soft tissue and bone tumors has been increasing because of the ability of ancillary tests to assist in the diagnosis of specific tumors. SRCSs may be diagnosed accurately in cytology specimens. Access to clinical and radiographic presentation, utility of ancillary tests, understanding complexity of cytological features, and awareness of the rare cytologic findings that differ from that of the established diagnostic criteria are essential to make correct diagnosis.
Topics: Biopsy, Fine-Needle; Bone Neoplasms; Child; Diagnosis, Differential; Humans; Sarcoma; Soft Tissue Neoplasms
PubMed: 35417916
DOI: 10.1159/000524260 -
Indian Journal of Pediatrics Aug 2019Approximately 25,000 children develop multidrug-resistant (MDR) tuberculosis (TB) each year, but few of them are diagnosed and appropriately treated for MDR-TB. New... (Review)
Review
Approximately 25,000 children develop multidrug-resistant (MDR) tuberculosis (TB) each year, but few of them are diagnosed and appropriately treated for MDR-TB. New diagnostic tools have improved our ability to diagnose children with bacteriologically confirmed TB earlier. However, the majority of childhood TB cases are not bacteriologically confirmed; therefore a high index of suspicion is needed, and taking a detailed history of contact with drug-resistant source cases and previous TB treatment is important to identify presumed MDR-TB cases. Treatment for MDR-TB is rapidly changing with the addition of new and repurposed drugs, the introduction of shorter regimens and the move towards injectable-free, all-oral MDR-TB treatment regimens. Children have been neglected in the introduction of the new drugs, but drug dosing and safety studies are now being completed. This article presents a practical approach in deciding which regimen to use in individual children in need of MDR-TB treatment. Outcomes in those treated are generally good, but only <5% of children with MDR-TB are currently diagnosed and appropriately treated. Diagnosing children with MDR-TB and getting them on to correct treatment regimens should now be our main focus.
Topics: Administration, Oral; Antitubercular Agents; Child; Dose-Response Relationship, Drug; Drug Administration Schedule; Humans; Microbial Sensitivity Tests; Tuberculosis, Multidrug-Resistant
PubMed: 30656560
DOI: 10.1007/s12098-018-02846-8 -
Annals of Diagnostic Pathology Oct 2021Localized cutaneous argyria is a rare cutaneous disorder that has been associated with occupational exposure, dental procedures, topical agents, acupuncture, earrings,... (Review)
Review
Localized cutaneous argyria is a rare cutaneous disorder that has been associated with occupational exposure, dental procedures, topical agents, acupuncture, earrings, and nasal piercings. In this paper, we review the current literature on localized cutaneous argyria, highlight its clinical and histologic diagnostic features, and then discuss the clinical and histological differential diagnoses for blue-gray skin and black dermal pigment, respectively. We also discuss the utility of ancillary techniques, such as deeper histologic levels, special stains, darkfield microscopy, and advanced micro-analytical techniques in helping diagnose localized cutaneous argyria. Furthermore, we emphasize that a thorough clinical history and astute clinico-pathologic correlation can be the most important diagnostic techniques in correctly diagnosing this rare disorder. Our review aims serve as a reminder to clinicians and pathologists of the importance of including localized cutaneous argyria in the clinical and histological differential diagnosis of pigmented lesions.
Topics: Argyria; Diagnosis, Differential; Humans; Melanocytes; Skin; Skin Diseases
PubMed: 34214703
DOI: 10.1016/j.anndiagpath.2021.151776 -
Acta Dermatovenerologica Croatica : ADC Jul 2022Teledermatology is a remote method of diagnosis, treatment, and follow-up of the patient with visual communication technologies. It has been a research subject for many...
Teledermatology is a remote method of diagnosis, treatment, and follow-up of the patient with visual communication technologies. It has been a research subject for many years, but its reliability has not been fully explained. With the emergence of the coronavirus disease-19 (COVID-19) pandemic in 2019, the need for teledermatology increased. This study aimed to evaluate the reliability of teledermatology. Material and Method: A total of 595 lesions of 546 patients who visited the dermatology outpatient clinic were included in the study. Two physicians evaluated the patients, one face-to-face and the other via multimedia messaging, and the diagnoses were compared with each other. Diagnoses were in total agreement if the first diagnoses were the same, in partial agreement if the second and third diagnoses were the same, and in no agreement if all diagnoses differed. The first diagnoses of Physicians 1 and 2 matched in 468 (total agreement rate: 76.8%) patients, and the second and third diagnoses matched in 44 and 8 patients, respectively (partial agreement rate: 8.7%). There was no agreement in the diagnoses of 75 patients (12.7%). In total, an agreement was reached in 520 patients (87.3%). Common diseases in dermatology practice, such as papulopustular and urticarial lesions, nails and hair diseases, infectious diseases, erythematous squamous diseases, those with pruritus, and skin malignancies, were diagnosed teledermatologically at a high rate of accuracy. In contrast, eczematous diseases, premalignant lesions, and other groups of diseases were less accurately diagnosed. In the last year, the importance of teledermatology has greatly increased with the COVID-19 pandemic. Our study shows that the store and forward (asynchronous) method of teledermatology can diagnose dermatological diseases with a high rate of accuracy.
Topics: COVID-19; COVID-19 Testing; Dermatology; Humans; Pandemics; Reproducibility of Results; Skin Diseases; Telemedicine
PubMed: 36153717
DOI: No ID Found -
The Indian Journal of Tuberculosis Jan 2021Early diagnosis and treatment of tuberculosis is of vital importance both to cure patients and to reduce transmission for effective control of tuberculosis, It is...
BACKGROUND
Early diagnosis and treatment of tuberculosis is of vital importance both to cure patients and to reduce transmission for effective control of tuberculosis, It is important to know whether tuberculosis is diagnosed in time and also what causes delay if any.
OBJECTIVES
The study was conducted with the objective of knowing the time taken to diagnose tuberculosis from the onset of symptoms and to identify the causes for delay if any.
METHODS
A study was conducted in the District of Malapppuram Kerala, South India among newly diagnosed smear positive tuberculosis patients. 489 patients were interviewed soon after diagnosis and their socio-demographic characteristics and details from onset of symptoms to diagnosis were collected using a structured format.
RESULTS
The mean time taken by the patient for consultation after onset was 36 days and the mean time for diagnosis was 42 days and total time until diagnosis was 78 days. 72.8% patients consult within 6 weeks of onset and 74.7% are diagnosed within 6 weeks of consultation. The delay for diagnosis was more with private institutions. Diagnosis took less time when government facilities are consulted and when cough was a prominent symptom. Socio demographic factors are seen not affecting the time.
CONCLUSIONS
There is delay in diagnosing tuberculosis especially with private health providers and more efforts are required to reduce the same.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Delayed Diagnosis; Demography; Female; Health Services Accessibility; Humans; India; Interviews as Topic; Male; Middle Aged; Socioeconomic Factors; Time Factors; Tuberculosis, Pulmonary; Young Adult
PubMed: 33641852
DOI: 10.1016/j.ijtb.2020.09.008 -
Chronic Respiratory Disease 2021Asthma is a common, chronic, and heterogeneous disease with a global impact and substantial economic costs. It is also associated with significant mortality and... (Review)
Review
Asthma is a common, chronic, and heterogeneous disease with a global impact and substantial economic costs. It is also associated with significant mortality and morbidity and the burden of undiagnosed asthma is significant. Asthma can be difficult to diagnose as there is no gold standard test and, while spirometry is central in diagnosing asthma, it may not be sufficient to confirm or exclude the diagnosis. The most commonly reported spirometric measures (forced expiratory volume in one second (FEV) and forced vital capacity assess function in the larger airways. However, small airway dysfunction is highly prevalent in asthma and some studies suggest small airway involvement is one of the earliest disease manifestations. Moreover, there are new inhaled therapies with ultrafine particles that are specifically designed to target the small airways. Potentially, tests of small airways may more accurately diagnose early or mild asthma and assess the response to treatment than spirometry. Furthermore, some assessment techniques do not rely on forced ventilatory manoeuvres and may, therefore, be easier for certain groups to perform. This review discusses the current evidence of small airways tests in asthma and future research that may be needed to further assess their utility.
Topics: Asthma; Forced Expiratory Volume; Humans; Respiratory Function Tests; Spirometry; Vital Capacity
PubMed: 34693751
DOI: 10.1177/14799731211053332 -
World Journal of Gastroenterology Jan 2020Coeliac disease (CD) is a complex condition resulting from an interplay between genetic and environmental factors. When diagnosing the condition, serological testing and... (Review)
Review
Coeliac disease (CD) is a complex condition resulting from an interplay between genetic and environmental factors. When diagnosing the condition, serological testing and genotyping are useful in excluding CD, although the gold standard of testing is currently histopathological examination of the small intestine. There are drawbacks associated with this form of testing however and because of this, novel forms of testing are currently under investigation. Before we develop completely novel tests though, it is important to ask whether or not we can simply use the data we gather from coeliac patients more effectively and build a more accurate snapshot of CD through statistical analysis of combined metrics. It is clear that not one single test can accurately diagnose CD and it is also clear that CD patients can no longer be defined by discrete classifications, the continuum of patient presentation needs to be recognised and correctly captured to improve diagnostic accuracy. This review will discuss the current diagnostics for CD and then outline novel diagnostics under investigation for the condition. Finally, improvements to current protocols will be discussed with the need for a holistic "snapshot" of CD using a number of metrics simultaneously.
Topics: Biopsy; Celiac Disease; Diagnosis, Differential; Diagnostic Techniques, Digestive System; Humans; Intestine, Small; Serologic Tests
PubMed: 31933510
DOI: 10.3748/wjg.v26.i1.1 -
Autism Research : Official Journal of... Feb 2023Despite increasing awareness for diagnosing autism spectrum disorder (ASD) and initiating treatments early in life, many children and adolescents continue to be...
Despite increasing awareness for diagnosing autism spectrum disorder (ASD) and initiating treatments early in life, many children and adolescents continue to be diagnosed at a relatively older age. Focusing on children who first received an ASD diagnosis at age six or older, this study aimed to describe the symptoms that parents reported when ASD was diagnosed, follow the patients' clinical trajectory prior to receiving the diagnosis, and describe differences in symptoms and prior diagnoses between males and females cases. We included 258 children (205 males and 53 females) who were first diagnosed with autism at age 6-18 in 2017-2018. We retrieved demographic information, neurologic and developmental symptoms, diagnoses, and medications dispensing history from the children's electronic medical charts. The data indicated that prior diagnoses of language delays and attention deficit hyperactivity disorder were common among children with a late ASD diagnosis. Two thirds of the children were prescribed one or more medications to treat psychosocial and behavioral conditions before receiving a late ASD diagnosis. Difficulties in social relationships with peers were the leading reported symptoms by parents at the time of ASD diagnosis. Across these different domains, some differences were found between males and females, including a somewhat higher cognitive level in males, who were also more likely to present aggressive behavior.
Topics: Child; Male; Female; Adolescent; Humans; Autism Spectrum Disorder; Delayed Diagnosis; Autistic Disorder; Interpersonal Relations; Parents
PubMed: 36495248
DOI: 10.1002/aur.2869 -
JAMA Dermatology Apr 2024Pathologic assessment to diagnose skin biopsies, especially for cutaneous melanoma, can be challenging, and immunohistochemistry (IHC) staining has the potential to aid...
IMPORTANCE
Pathologic assessment to diagnose skin biopsies, especially for cutaneous melanoma, can be challenging, and immunohistochemistry (IHC) staining has the potential to aid decision-making. Currently, the temporal trends regarding the use of IHC for the examination of skin biopsies on a national level have not been described.
OBJECTIVE
To illustrate trends in the use of IHC for the examination of skin biopsies in melanoma diagnoses.
DESIGN, SETTING, AND PARTICIPANTS
A retrospective cross-sectional study was conducted to examine incident cases of melanoma diagnosed between January 2000 and December 2017. The analysis used the SEER-Medicare linked database, incorporating data from 17 population-based registries. The study focused on incident cases of in situ or malignant melanoma of the skin diagnosed in patients 65 years or older. Data were analyzed between August 2022 and November 2023.
MAIN OUTCOMES AND MEASURES
The main outcomes encompassed the identification of claims for IHC within the month of melanoma diagnoses and extending up to 14 days into the month following diagnosis. The SEER data on patients with melanoma comprised demographic, tumor, and area-level characteristics.
RESULTS
The final sample comprised 132 547 melanoma tumors in 116 117 distinct patients. Of the 132 547 melanoma diagnoses meeting inclusion criteria from 2000 to 2017, 43 396 cases had accompanying IHC claims (33%). Among these cases, 28 298 (65%) were diagnosed in male patients, 19 019 (44%) were diagnosed in patients aged 65 years to 74 years, 16 444 (38%) in patients aged 75 years to 84 years, and 7933 (18%) in patients aged 85 years and older. In 2000, 11% of melanoma cases had claims for IHC at or near the time of diagnosis. This proportion increased yearly, with 51% of melanoma cases having associated IHC claims in 2017. Increasing IHC use is observed for all stages of melanoma, including in situ melanoma. Claims for IHC in melanomas increased in all 17 SEER registries but at different rates. In 2017, the use of IHC for melanoma diagnosis ranged from 39% to 68% across registries.
CONCLUSIONS AND RELEVANCE
Considering the dramatically rising and variable use of IHC in diagnosing melanoma by pathologists demonstrated in this retrospective cross-sectional study, further investigation is warranted to understand the clinical utility and discern when IHC most improves diagnostic accuracy or helps patients.
Topics: Humans; Male; Aged; United States; Melanoma; Skin Neoplasms; Retrospective Studies; Immunohistochemistry; Cross-Sectional Studies; Medicare
PubMed: 38446470
DOI: 10.1001/jamadermatol.2023.6417