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1.
J Clin Pathol ; 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39237370

RESUMEN

Even though the average surgical pathologist reviews far more non-neoplastic orthopaedic pathology on a daily basis, most current research focuses on rare tumours and their even less frequent molecular events. Our experiences among consults and focused conferences strongly suggest that there remains a practice gap regarding knowledge and diagnosing specific non-neoplastic orthopaedic conditions. One of the most frequent intraoperative consultations performed in the USA, among both academic and private institutions, relates to revision arthroplasty and the determination of infection in periprosthetic joints. Pathologists play a critical role in this algorithm, helping determine intraoperatively whether patients require antibiotic spacers prior to reimplantation. Many pathology departments have abandoned the examination of arthroplasty specimens because they (and their surgeons) mistakenly believe there is little clinically relevant information to be gained by thorough pathological examination. However, recent literature has challenged this concept, emphasising the importance of distinguishing avascular necrosis (from osteoarthritis/degenerative joint disease with secondary osteonecrosis), subchondral insufficiency fracture, septic arthritis (from so-called 'sterile' osteomyelitis/pseudoabscesses), underlying crystalline diseases and incidental/occult neoplasia. Histological evaluation of historically insignificant orthopaedic specimens, such as tenosynovium from carpal tunnel syndrome/trigger finger, is now seen as valuable in early diagnosis of cardiac amyloidosis. Not infrequently, orthopaedic conditions like haemosiderotic synovitis, osteocartilaginous loose bodies or rheumatoid nodules, may histologically mimic bona fide neoplasms, notably diffuse tenosynovial giant cell tumour, synovial chondromatosis and epithelioid sarcoma, respectively. Here is a review of the more common non-neoplastic orthopaedic conditions, those likely to be examined by the practising surgical pathologist, with updates and guidelines for establishing clinically relevant diagnoses.

2.
Cureus ; 16(8): e66487, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39246853

RESUMEN

Non-gestational choriocarcinoma of the ovary is extremely rare and presents diagnostic and therapeutic challenges. Early recognition, appropriate surgical intervention, and adjuvant chemotherapy are essential for successful management. This case underscores the importance of considering choriocarcinoma in the differential diagnosis of ovarian tumors, especially in perimenopausal women with vascular mass. We present the case of a 47-year-old sexually active woman with a history of pelvic pain, diagnosed with non-gestational choriocarcinoma of the ovary. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy with successful management using the bleomycin, etoposide, and platinum (BEP) regimen. This case highlights the importance of early detection and appropriate management of this rare entity.

3.
Chin Med Sci J ; 2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39229794

RESUMEN

With the progress of aging, the incidence of vascular calcification (VC) gradually increases, which is correlated with cardiovascular events and all-cause death, aggravating global clinical burden. Over the past several decades, accumulating approaches targeting the underlying pathogenesis of VC have provided some possibilities for the treatment of VC. Unfortunately, none of the current interventions have achieved clinical effectiveness on reversing or curing VC. The purpose of this review is to make a summary of novel perspectives on the interventions of VC and provide reference for clinical decision-making.

4.
Radiol Med ; 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39259385

RESUMEN

PURPOSE: To investigate the association between metabolic syndrome and perirenal fat stranding (PRFS), which is defined as linear or curvilinear soft tissue densities in the perirenal fat on computed tomography (CT). MATERIAL AND METHODS: Adults who had abdominal CT for health screening at a single institution between October 2022 and March 2023 were included retrospectively. Two radiologists assessed the extent of PRFS for each CT and graded it as absent, mild/moderate, and severe. Logistic regression analyses were used to investigate the associations between PRFS and metabolic syndrome-related factors, as well as age and gender. RESULTS: Among 701 participants (mean age, 56.8 years ± 9.7; 336 women and 365 men), 87 (12.4%) had mild (n = 80) or moderate (n = 7) PRFS. None had severe PRFS. The presence of PRFS was independently associated with higher body mass index (odds ratio [OR], 2.561 and 9.842 for overweight and obese, respectively; p ≤ 0.001), elevated blood pressure with or without anti-hypertensive medication (OR, 2.232; p = 0.015), anti-diabetic medication (OR, 3.129; p < 0.001), and lipid-lowering medication (OR, 1.919; p = 0.019), older age (OR, 4.545 and 9.109 for 50-59 years and ≥ 60 years, respectively; p ≤ 0.002), and male gender (OR, 10.065; p < 0.001). Sixty three of 87 (72.4%) participants with PRFS had metabolic syndrome, while 265 of 614 (43.2%) participants without PRFS did (p < 0.001). CONCLUSION: Incidental mild or moderate PRFS may be associated with the presence of metabolic syndrome or related disorders in otherwise healthy adults.

5.
Brain Spine ; 4: 102915, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39257720

RESUMEN

Introduction: Increasing imaging examination rates leads to a corresponding rise in the detection rates of unruptured intracranial aneurysms (UIAs). There is limited knowledge on how the detection of UIA affects health-related outcomes in untreated patients. Research question: Is the diagnosis of UIA associated with psychosocial outcomes, healthcare services utilisation, or sick leave in untreated individuals? Material and methods: Nested case-control study with 96 participants diagnosed with UIAs through magnetic resonance angiography (MRA) screening, not receiving preventive aneurysm obliteration. Comparisons were made with Control1 (192 participants with negative MRAs) and Control2 (192 individuals not MRA screened). Quality of life, psychological distress, and health anxiety were assessed using EQ-5D-5L including EQ VAS, Hopkins Symptom Checklist-10, and Whiteley Index-6, respectively. Healthcare service utilisation and sick leave was measured using registry data. Median follow-up was 32-55 months for the different outcomes. Results: UIA were in general not associated with psychosocial outcomes, neither compared to pre-screening values nor to controls. The exemption was a lower mean EQ VAS score at follow-up for cases (76.7) versus Control1 (80.0), regression coefficient -3.87 (95% CI (-7.60, -0.14). Cases had significantly higher rates of radiology exams compared to controls, with 1.47 (95% CI 1.25, 1.74) exams per person-year versus 0.91 (C95% CI 0.75, 1.09) for Control1 and 0.95 (95% CI CI 0.79, 1.14) for Control2. No significant differences were observed in other psychosocial outcomes, healthcare services utilisation, or sick-leave. Discussion and conclusions: The overall impact of untreated UIAs appears to be limited when assessed years after diagnosis.

6.
Intern Med ; 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39261065

RESUMEN

Objective The impact of Helicobacter pylori infection on gastric endoscopic findings in non-eosinophilic esophagitis eosinophilic gastrointestinal diseases (non-EoE EGIDs) remains unclear. This study investigated the influence of H. pylori infection on the prevalence and distribution of gastric lesions. Methods The details of 75 patients diagnosed with non-EoE EGIDs were retrospectively reviewed. Of the 56 patients with a definitive diagnosis according to the Japanese criteria (any GI tract; ≥20 eosinophils/high-power field), 25 patients with pathologic gastric eosinophil infiltration (gastric EI; ≥30 eosinophils/high-power field) were investigated in detail. The prevalence and distribution of gastric endoscopy findings were assessed according to the gastric mucosal atrophy status, an indicator of H. pylori infection. Results Erythema (76%) was the most common finding in the gastric EI-positive group, followed by erosions (36%), ulcers (28%), ulcer scars (28%), and edema (24%). None of these lesions differed significantly in frequency between the patients with and without gastric atrophy. When erosions, ulcers, and ulcer scars were unified, they were slightly more common in the gastric bodies of patients with gastric atrophy than those without gastric atrophy; however, no preferential site was found in those without gastric atrophy. We identified six patients with active gastric ulcers, and half had large, deep ulcers with marginal swelling/irregularity. Conclusion Gastric endoscopy findings in non-EoE EGIDs with gastric EI were evenly observed in the stomach, with no specific trend in frequency or distribution depending on atrophic gastritis, an indicator of H. pylori infection. Gastric ulcers in patients with non-EoE EGIDs should be considered in the differential diagnosis of idiopathic peptic ulcers.

7.
Diagnostics (Basel) ; 14(17)2024 Aug 29.
Artículo en Inglés | MEDLINE | ID: mdl-39272693

RESUMEN

Background/Objectives: The aim of this study was to evaluate incidental findings in the mandible after the placement of dental implants using a new cone-beam computed tomography (CBCT) software. Methods: The initial sample consisted of 2872 CBCT scans of patients of both sexes. The parameters evaluated in this study were the location of the implants in the mandible, implant length, anatomical relationship of the implant with the mandibular canal, presence or absence of damage to the adjacent teeth, presence or absence of implant fractures, and presence or absence of bone support. Fisher's exact test was performed to compare the variables. The significance level was set at p = 0.05. Results: Out of 2872 CBCT scans, 214 images of patients with an average age of 44.5 years were included. The most frequent location of the implants was the posterior region (93.5%), with 54% of the implants having a length between 9 and 14 mm. It was found that 92% of the implants were positioned above the mandibular canal. Damage to adjacent teeth was observed, with no correlation with the implant positioning (p = 1.000). In 100% of cases of implants in the anterior region, there was bone support. Fracture was observed in 1.7% of implants with a length between 9 and 14 mm. Conclusions: The installation of implants in the mandible occurs more frequently in the posterior region, with a high presence of bone support and a low incidence of damage to adjacent teeth, anatomical structures, and fractures.

8.
Pol J Radiol ; 89: e386-e390, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39257924

RESUMEN

The intricate development and physiological dynamics of the mammary glands, orchestrated by a delicate interplay of hormones, are crucial for reproductive function and lactation. Beginning with intrauterine clusters evolving into mature glands, hormonal fluctuations throughout puberty and the menstrual cycle finely tune mammary tissue growth. Oestrogens stimulate the proliferation of epithelial cells, while progesterone orchestrates the formation of lactiferous glands. During pregnancy, oestrogen and progesterone induces hyperplasia of lobules and ducts, preparing the breast for lactation. Prolactin is vital for lactation and stimulates milk production during pregnancy and postpartum. As shown by ultrasonography, physiological changes during lactation reflect glandular tissue transformation for milk secretion. Clinical and physiological changes, including increased blood flow, contribute to mammary growth and firmness, complicating clinical examination. Ultrasonographic findings reveal variability in women's glandular and fat tissue distribution, suggesting that milk production is not solely determined by anatomical factors. Though not directly linked to milk production, blood flow dynamics hint at a threshold for optimal lactation. Understanding these complex hormonal and physiological mechanisms is crucial for comprehending mammary development, function, and clinical assessment.

9.
Placenta ; 156: 14-19, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39222560

RESUMEN

INTRODUCTION: Placental abruption (PA) is a major obstetric complication associated with worse maternal and neonatal outcomes. Though ultrasound findings may support the diagnosis of PA, the association of such findings to the severity of PA and maternal and neonatal outcomes is not yet clear. We aimed to assess the maternal and neonatal outcomes of PA cases with vs. without related sonographic findings. METHODS: In this retrospective cohort study, all deliveries complicated by PA between 2009 and 2022 were included. Placental histopathology, obstetric, and neonatal outcomes were compared between cases of PA with vs. without supporting sonographic findings. A composite of severe neonatal morbidity was compared between the groups, including ≥1 of the following: seizures, intraventricular hemorrhage, hypoxic-ischemic encephalopathy, periventricular leukomalacia, respiratory-distress syndrome, sepsis, anemia, blood transfusion or death. RESULTS: Of the 420 cases with PA eligible for the study, 50 patients (12 %) were in the PA with sonographic features group and 370 (88 %) were in the PA without sonographic features group. The PA with sonographic features group was characterized by significantly higher rates of prematurity (p < 0.001), severe composite adverse neonatal outcome (p < 0.01), and a composite maternal vascular malperfusion lesions in placental histopathology (p = 0.001) In multivariable regression analyses, preterm birth was independently associated with the presence of sonographic features (aOR = 8.79, 95 % CI 2.41-31.93, p < 0.001). DISCUSSION: PA with supporting sonographic features is associated with higher rates of adverse obstetric and neonatal outcomes and placental lesions. These findings emphasize the importance of sonographic evaluation for every case of PA before deciding upon management.

10.
Artículo en Inglés | MEDLINE | ID: mdl-39322823

RESUMEN

PURPOSE: To characterize the ultrasonographic findings of patients with early knee osteoarthritis (KOA) and determine which findings were associated with the Knee Injury and Osteoarthritis Outcome Score (KOOS) subscale. METHODS: The study included 98 knees (35 men, 63 women, 60.3 ± 11.5 years) diagnosed with early KOA with no major deformity radiographically, but with pain during activity and tenderness in the medial knee. Synovial hyperplasia in the suprapatellar bursa, knee joint effusion, horizontal tear of the medial meniscus (MM), osteophytes of the medial condyle of the femur and tibia, blood flow signals in the synovium of the suprapatellar bursa, medial collateral ligament bursa, infrapatellar fat pad, MM extrusion (MME) in the supine and upright positions, and the amount of change in MME were observed using ultrasonography. RESULTS: Correlations (p < 0.05) were found between the presence of synovial hyperplasia of the suprapatellar bursa (r<-0.20) and amount of MME in the upright position (r< - 0.24) and all KOOS subscales. Presence of joint effusion and the four KOOS subscales except quality of life (QOL) were correlated (p < 0.05). Partial correlation coefficients showed correlations (p < 0.05) between knee joint effusion and symptoms (r = 0.299) and activities of daily living (ADL) (r = 0.254) of the KOOS subscales, and between MME in the upright position and symptoms (r= - 0.263), pain (r= - 0.256), and ADL (r= - 0.212). CONCLUSION: Quality and difficulty of life of patients with early KOA may be influenced by synovial hyperplasia in the suprapatellar bursa, joint effusion, and MME values in the upright position. Among them, synovial hyperplasia of the suprapatellar bursa and amount of MME in the upright position were independently associated with the KOOS subscales.

11.
Radiol Case Rep ; 19(12): 5619-5623, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39296756

RESUMEN

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. There are few documented cases in the medical literature. Here, we present an infrequent case of a 53-year-old patient who presented with cutaneous xanthelasma and a gradual decline in general health characterized by asthenia, anorexia, and chronic dyspnea over the last 5 years. Chest, abdominal, and pelvic CT scans revealed distinct findings suggestive of ECD, including peri-renal fat infiltration resulting in the "hairy kidney" sign, hepatosplenomegaly, renal artery ostial stenosis, pneumopericardium thickening, interstitial lung parenchymal involvement, metaphyseal-diaphyseal osteosclerosis affecting long bones, and sinus osteosclerosis. A biopsy confirmed the diagnosis. This case highlights the importance of radiologists being familiar with the characteristic radiologic signs of ECD to avoid unnecessary repeat examinations, delays in diagnosis, or misdiagnosis.

12.
Cureus ; 16(8): e67430, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39310593

RESUMEN

Severe eating disorders may develop refeeding syndrome, which sometimes resembles severe cardiac dysfunction. A woman in her thirties was admitted to our hospital because of cardiogenic shock. Transthoracic echocardiography showed reduced left ventricular systolic function. In her medical history, she had been diagnosed with refeeding syndrome. A ventricular endocardial biopsy was performed to exclude other cardiac diseases. A histological examination showed conspicuously atrophied cardiomyocytes with nuclear swelling and irregularities; the myocardial sequence was disturbed with fibrosis. Immunostaining revealed that lipid droplet markers, adipose triglyceride lipase, and perilipin 2 were poorly observed in the cardiomyocytes, while expression of both proteins was attenuated in fibroblasts within the myocardial layer. The abnormal metabolism of fatty acids was the presumed cause of cardiac dysfunction.

13.
J Affect Disord ; 368: 547-554, 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39299595

RESUMEN

BACKGROUND: A growing body of studies revealed that enteric dysbacteriosis could result in depression via the "gut-microbiota-brain axis" (GMBA). Whether probiotics, prebiotics, and synbiotics supplements could lessen the risk of depression is a topic attracting attention. This research was conducted to evaluate the relationship between probiotics, prebiotics, synbiotics, or yogurt supplements and depression with large cross-sectional data. METHODS: All data in our research was sourced from the National Health and Nutrition Examination Survey (NHANES) (2005-2016). Probiotics, prebiotics, synbiotics, and yogurt supplements were identified using Food Frequency Questionnaire (FFQ) and Dietary Supplement Use 30-Day (DSQ). We employed the Patient Health Questionnaire (PHQ-9) for evaluating depression. Logistic regression and the Kaplan-Meier curve were performed to examine the correlation between the supplements and depression, as well as mortality. RESULTS: A total of 17,745 adult participants were selected. The participants who supplemented probiotics, prebiotics, synbiotics, or yogurt products in the last 30 days showed a significantly lower depression rate compared with those who didn't. Specifically, the supplements could alleviate depressive symptoms including sad, anhedonia, sleep problems, fatigue, appetite changes, and psychomotor changes. This association was more prominent in specific populations such as the population aged 40-60 years, male, whites. The supplements also show more significant effects on increasing survival rates in patients with mild depression. LIMITATION: Cross-sectional analysis reveals correlative but not causative association. CONCLUSION: Based on the analysis of NHANES data, our research highlights the positive effect the supplements have on preventing depression, relieving depressive symptoms and increasing survival rates. This effect varied across populations.

14.
Microb Pathog ; 196: 106952, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39306051

RESUMEN

This study aimed to fill a crucial gap in our understanding of Babesia infection in dogs in Mashhad, northeast Iran. We not only investigated the prevalence of Babesia species among dogs but also undertook a comprehensive comparison of clinical, hematological, and clinicopathological findings between infected and non-infected cases, a unique aspect of our research. MATERIALS AND METHODS: Our research was conducted with meticulous attention to detail. We randomly collected blood specimens from a diverse population of 150 dogs, including owned pets (n = 47), stray dogs (n = 66), and shelter dogs (n = 37), to ensure the reliability and representativeness of our findings. We then used microscopy and PCR to investigate Babesia spp. infection and analyzed various biochemical and hematological variables. RESULTS: The overall prevalence of babesiosis was 15.3 % (23/150) by PCR and 2 % (3/150) by microscopy. Upon microscopic examination, two cases of large Babesia and one case of small-sized Babesia were identified. The sequencing results confirmed that the two dogs testing positive for large-sized Babesia species in this study were both infected with B. vogeli, exhibiting 100 % sequence identity. There was no association between infection and gender, while housing status (k = 37.294, p = 0.000) and age (k = 6.897, p = 0.021) significantly related to infection rate. Among laboratory variables, infection with Babesia spp. showed a remarkable association with Hct (k = 4.749, p = 0.025) and RBC count (k = 14.669, p = 0.000), which were significantly lower in infected dogs compared to non-infected dogs (p < 0.05). Aside from severe non-regenerative anemia observed in all three clinically infected cases, the most clinicopathological changes were observed in one B. vogeli-infected dog, including pancytopenia, azotemia, hyperphosphatemia, hyperkalemia, hypoglycemia, hypocholesterolemia, hyponatremia. CONCLUSION: This study reveals a higher-than-expected prevalence of canine babesiosis in Northeastern Iran, necessitating further investigation of tick vectors and Babesia spp. distribution. Notably, many infected dogs were asymptomatic, raising concerns about silent spread via carriers. Moreover, the high prevalence of infection in shelters highlights the need for more effective control strategies in these centers.

15.
Cureus ; 16(8): e67103, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39290910

RESUMEN

Background Pathologies affecting the ankle joint and hindfoot can present with a variety of clinical symptoms and etiologies, necessitating accurate diagnostic tools for effective management. Magnetic resonance imaging (MRI) is a valuable imaging modality for assessing these pathologies, providing detailed visualization of bone, joint, tendon, and other soft tissue abnormalities. Objectives To evaluate MRI findings in a diverse cohort of 105 participants with pathologies affecting the ankle joint and hindfoot, focusing on the prevalence and types of bone, joint, tendon, and soft tissue abnormalities. Materials and methods A single-center observational descriptive study was conducted at Dr. D. Y. Patil Medical College and Hospital and Research Centre, Pune, India, over a period from August 2022 to July 2024, involving 105 participants (54.3% male, 45.7% female) with a mean age of 39.04 years. MRI scans were analyzed to assess the prevalence of bone, joint, tendon, and soft tissue pathologies. Clinical profiles, symptom duration, and etiological classifications were documented. Results Analysis of the results obtained from 105 (N = 105) study participants revealed that pain (94.3%, or 99 cases) was the most common symptom, followed by restricted movement (86.7%, or 91 cases), trauma history (75.2%, or 79 cases), and swelling (73.3%, or 77 cases). Traumatic causes (76.2%, or 80 cases) predominated, while inflammatory (48.3%, or 14 cases) and infective (34.5%, or 10 cases) causes were also significant. MRI findings showed marrow edema in 41.9%, or 44 cases, subchondral cysts in 22.9% (24 cases), fractures in 17.1% (18 cases), and erosions in 10.5% of participants (11 cases). Joint involvement was most frequent in the tibiotalar (76.2%, or 80 cases) and subtalar joints (58.1%, or 61 cases). Tendon pathologies included peritendonitis (55.2%, or 58 cases) and tendinosis (23.8%, or 25 cases), with the Achilles tendon being the most frequently affected (39%, or 41 cases). Ligament injuries were predominantly sprains (46.7%, or 49 cases), with less frequent partial (18.1%, or 19 cases) and complete tears (7.6%, or eight cases). Soft tissue findings included subcutaneous edema (76.2%, or 80 cases) and bursitis (24.8%, or 26 cases). Among the study participants who presented with non-traumatic pathologies, inflammatory pathologies (48.3%, or 14 cases) were the most common, followed by infective (34.5%, or 10 cases) and neoplastic (17.2%, or five cases) pathologies. Conclusion MRI effectively identifies a wide range of pathologies in the ankle and hindfoot, with marrow edema, joint effusion, and tendon pathologies being prevalent. The study underscores the utility of MRI in diagnosing and assessing various conditions in the ankle joint complex and highlights the need for accurate imaging to guide treatment decisions. Future research should focus on correlating MRI findings with clinical outcomes to enhance diagnostic accuracy and management strategies.

16.
Basic Clin Neurosci ; 15(1): 81-88, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39291085

RESUMEN

Introduction: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy. There are several factors that influence the severity of CTS. The purpose of this study was to explore the severity of CTS in hypothyroid patients. Methods: This cross-sectional study was conducted in the university clinic. Seventy-six participants with a clinically and electrophysiological confirmed diagnosis of CTS were included in the study. The demographic data and severity of CTS were analyzed based on the presence (n=38) or the absence (n=38) of primary hypothyroid disease. Thirty-eight hypothyroid patients who were being treated were included in this study. For the assessment of the severity of CTS, the Boston questionnaire (BCTQ) and electrodiagnostic tests were used. For data analysis, an independent sample t-test and chi-squared test were carried out. A P<0.05 was considered significant. Results: The mean age of hypothyroid and non-hypothyroid CTS patients was 46.21±7.22 and 44.24±8.02 years, respectively. Body mass index (BMI) was >30 kg/m2 in both groups. There was no significant difference in demographic data among the two groups. The mean score of symptom severity in hypothyroid and non-hypothyroid-CTS patients were 30.37±10.84 and 35.89±7.19, and also functional status was 21.71±9.04 and 25.92±6.62, respectively. There was a significant difference between the two groups, in terms of symptom severity scale (P=0.017, 95% CI, 31.14%, 35.48%) and functional status scale (P=0.023, 95% CI, 21.95%, 25.67%). In terms of electrophysiological findings, there was no statistically significant difference between these two groups. Conclusion: The results of this study indicated that, contrary to expectation, the severity of CTS is higher in non-hypothyroid patients than in hypothyroid patients.

17.
Am J Hum Genet ; 2024 Sep 07.
Artículo en Inglés | MEDLINE | ID: mdl-39299240

RESUMEN

Secondary findings (SFs) from genomic sequencing can have significant impacts on patient health, yet existing practices guiding their clinical investigation are inconsistent. We systematically reviewed existing SFs policies to identify variations and gaps in guidance. We cataloged and appraised international policies from academic databases (n = 5, inception-02/2022) and international human genetic societies (n = 64; inception-05/2022), across the continuum of SFs selection, analysis, and clinical management. We assessed quality using AGREE-II and interpreted results using qualitative description. Of the 63 SFs policies identified, most pertained to clinical management of SFs (98%; n = 62; primarily consent and disclosure), some guided SFs analysis (60%; n = 38), while fewer mentioned SFs selection (48%; n = 30). Overall, policies recommend (1) identifying clinically actionable, pathogenic variants with high positive predictive values for disease (selection), (2) bioinformatically filtering variants using evidence-informed gene lists (analysis), and (3) discussing with affected individuals the SFs identified, their penetrance, expressivity, medical implications, and management (clinical management). Best practices for SFs variant analysis, clinical validation, and follow-up (i.e., surveillance, treatment, etc.) were minimally described. Upon quality assessment, policies were highly rated for scope and clarity (median score, 69) but were limited by their rigor and applicability (median scores, 27 and 25). Our review represents a comprehensive international synthesis of policy guiding SFs across the continuum of selection, analysis, and clinical management. Our synthesis will help providers navigate critical decision points in SFs investigation, although significant work is needed to address gaps in SFs analysis, clinical validation, and follow-up processes and to support evidence-based practice.

18.
Artículo en Inglés | MEDLINE | ID: mdl-39301891

RESUMEN

Radiological incidental findings (IFs) are previously undetected abnormalities which are unrelated to the original indication for imaging and are unexpectedly discovered. In brain magnetic resonance imaging (MRI), the prevalence of IFs is increasing. By reviewing the literature on IFs in brain MRI performed for research purposes and discussing ethical considerations of IFs, this paper provides an overview of brain IF research results and factors contributing to inconsistencies and considers how the consent process can be improved from an ethical perspective. We found that despite extensive literature regarding IFs in research MRI of the brain, there are major inconsistencies in the reported prevalence, ranging from 1.3% to 99%. Many factors appear to contribute to this broad range: lack of standardised definition, participant demographics variance, heterogenous MRI scanner strength and sequences, reporter variation and results classification. We also found significant discrepancies in the review, consent and clinical communication processes pertaining to the ethical nature of these studies. These findings have implications for future studies, particularly those involving artificial intelligence. Further research, particularly in relation to MRI brain IFs would be useful to explore the generalisability of study results.

19.
Cureus ; 16(8): e67283, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39301380

RESUMEN

A four-vessel umbilical cord is a rare anomaly that can occur with abnormal persistence of the caudal portion of the vessel. Although supernumerary vessels can present as an isolated finding, they are known to be associated with multiple significant congenital anomalies. Ectopia cordis, pulmonary stenosis, cleft lip, cleft palate, situs inversus, tetralogy of Fallot, and gastroschisis are some anomalies associated with four-vessel cords. This is a case of a 22-year-old multigravida with a four-vessel umbilical cord initially found on sonography. The patient was sent to Maternal Fetal Medicine for evaluation. It was determined that the patient had a right supernumerary umbilical vein that did not require further workup. The patient presented to labor and delivery at 36 weeks and five days with regular contractions. After normal vaginal delivery without complications, the four-vessel-umbilical cord was visualized and confirmed by pathology. The patient and neonate both did well with no complications.

20.
Cancer Control ; 31: 10732748241287019, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39305002

RESUMEN

BACKGROUND: Splenic flexure adenocarcinoma poses unique challenges in surgical management due to its location and lymphatic drainage. This study compared the efficacy and oncological safety of extended right hemicolectomy (ERC) and left colectomy (LC) for treating this condition. METHODS: This study followed the PRISMA and AMSTAR 2 guidelines. Key outcomes included postoperative mortality, morbidity, severe complications, operative results, pathological findings (R0 resection, lymph nodes), and oncological results (overall survival and disease-free survival at 3 and 5 years). RESULTS: Twelve non-randomised studies were included involving 1710 patients (713 ERC group, 997 LC group). The analysis showed that ERC was associated with more lymph nodes and a lower conversion rate. However, there were no significant differences between ERC and LC in terms of mortality, morbidity, severe complications, anastomotic leak, wound infection, ileus, reoperation, R0 resection, hospital stay, and overall and disease-free survival rates. CONCLUSIONS: ERC and LC are comparable in terms of postoperative and long-term oncological outcomes for splenic flexure adenocarcinoma, with ERC potentially producing a higher lymph node harvest rate and a lower conversion rate. ERC could be suggested for a better stage of the disease and when the surgical team considers the laparoscopic approach.


Asunto(s)
Adenocarcinoma , Colectomía , Humanos , Colectomía/métodos , Colectomía/efectos adversos , Adenocarcinoma/cirugía , Adenocarcinoma/patología , Neoplasias del Colon/cirugía , Neoplasias del Colon/patología , Colon Transverso/cirugía , Colon Transverso/patología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Masculino , Femenino , Resultado del Tratamiento , Laparoscopía/métodos , Laparoscopía/efectos adversos
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