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1.
Cancer Rep (Hoboken) ; 7(4): e2072, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38600393

RESUMEN

BACKGROUND: Research from across the United States has shown that rurality is associated with worse melanoma outcomes. In Indiana, nearly a quarter of all residents live in rural counties and an estimated 2180 cases of melanoma will be diagnosed in 2023. AIMS: This study examines how geographical location affects the stage of melanoma diagnosis in Indiana, aiming to identify and address rural health disparities to ultimately ensure equitable care. METHODS AND RESULTS: Demographics and disease characteristics of patients diagnosed with melanoma at Indiana University Health from January 2017 to September 2022 were compared using Students t-tests, Wilcoxon tests, chi-squared or Fisher's exact tests. Patients from rural areas presented with more pathological stage T3 melanomas (15.0% vs. 3.5%, p < 0.001) in contrast to their urban counterparts. Additionally, rural patients presented with fewer clinical stage I melanomas (80.8% vs. 89.3%) and more clinical stage II melanomas (19.2% vs. 8.1%), compared to urban patients, with no stage III (p = 0.028). Concerningly, a significantly higher percentage of the rural group (40.7%) had a personal history of BCC compared to the urban group (22.6%) (p = 0.005) and fewer rural patients (78.0%) compared to urban patients (89.4%) received surgical treatment (p = 0.016). CONCLUSION: Patients from rural counties in Indiana have higher pathological and clinical stage melanoma at diagnosis compared to patients from urban counties. Additionally fewer rural patients receive surgical treatment and may be at higher risk of developing subsequent melanomas.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Humanos , Estados Unidos , Melanoma/diagnóstico , Melanoma/epidemiología , Indiana/epidemiología , Estudios Retrospectivos , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/terapia , Población Rural
2.
BMC Cancer ; 24(1): 442, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38600473

RESUMEN

Head and neck cancers, particularly oropharyngeal cancers (OPC), have been increasingly associated with human papillomavirus (HPV) infections, specifically HPV16. The current methods for HPV16 detection primarily rely on p16 staining or PCR techniques. However, it is important to note the limitations of conventional PCR, as the presence of viral DNA does not always indicate an ongoing viral infection. Moreover, these tests heavily rely on the availability of tissue samples, which can present challenges in certain situations. In this study, we developed a RT-qPCR biplex approach to detect HPV16 oncogenes E6 and E7 RNA in saliva samples from OPC patients. Salivary supernatant was used as the liquid biopsy source. We successfully obtained RNA from salivary supernatant, preserving its integrity as indicated by the detection of several housekeeping genes. Our biplex approach accurately detected E6 and E7 RNA in HPV16-positive cell lines, tissues, and finally in OPC salivary samples. Importantly, the assay specifically targeted HPV16 and not HPV18. This biplexing technique allowed for reduced sample input without compromising specificity. In summary, our approach demonstrates the potential to detect viable HPV16 in saliva from OPC patients. Since the assay measures HPV16 RNA, it provides insights into the transcriptional activity of the virus. This could guide clinical decision-making and treatment planning for individuals with HPV-related OPC.


Asunto(s)
Proteínas Oncogénicas Virales , Neoplasias Orofaríngeas , Infecciones por Papillomavirus , Humanos , Papillomavirus Humano 16/genética , Saliva/metabolismo , Infecciones por Papillomavirus/diagnóstico , Infecciones por Papillomavirus/genética , Infecciones por Papillomavirus/complicaciones , Proteínas Oncogénicas Virales/genética , Neoplasias Orofaríngeas/patología , ARN , Reacción en Cadena de la Polimerasa , Proteínas E7 de Papillomavirus/genética
3.
BMC Oral Health ; 24(1): 436, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38600486

RESUMEN

The anatomy of furcation favours the bacterial retention and makes periodontal debridement as well as oral hygiene procedures difficult. Teeth that have lost attachment to a level of the furcation are said to have a furcal invasion or furcation involved.Involvement of furcation in a multi-rooted tooth poses a very different type of clinical situation in terms of establishment of diagnosis, determination of prognosis and of course planning the treatment modality.The present study was carried out on 200 selected extracted human first and second permanent molar teeth based on a predefined criteria. Teeth with prosthetic crowns, fused or fractured roots, those not fully developed, grossly carious or heavily restored at the cementoenamel junction (CEJ) were excluded from the study. The morphology of the root trunk was recorded by measuring various dimensions of the root trunk,including furcal angle and root trunk volume was calculated by using a custom made special apparatus. The furcation areas were debrided with different types of curettes in the market in order to see how best the instrument could be maneuvered in the furcation area. The data so obtained was statistically analysed using SPSS version 22. The highest root trunk volume and the longest root trunk length were found to be in the maxillary second molar. 48.60% furcations didn't allow instrument engagementof furcation area with standard area specific curettes. The proposal of inclusion of root trunk length (mm) is suggested in addition to classification of FI to have assess prognosis and appropriate treatment for of the involved tooth.


Asunto(s)
Defectos de Furcación , Raíz del Diente , Humanos , Raíz del Diente/anatomía & histología , Diente Molar/cirugía , Diente Molar/anatomía & histología , Cuello del Diente , Pronóstico , Biometría , Defectos de Furcación/cirugía , Defectos de Furcación/diagnóstico
4.
J Ovarian Res ; 17(1): 78, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38600539

RESUMEN

BACKGROUND: This study investigated the association between Anti-Müllerian Hormone (AMH) and relevant metabolic parameters and assessed its predictive value in the clinical diagnosis of polycystic ovarian syndrome (PCOS). METHODS: A total of 421 women aged 20-37 years were allocated to the PCOS (n = 168) and control (n = 253) groups, and their metabolic and hormonal parameters were compared. Spearman correlation analysis was conducted to investigate associations, binary logistic regression was used to determine PCOS risk factors, and receiver operating characteristic (ROC) curves were generated to evaluate the predictive value of AMH in diagnosing PCOS. RESULTS: The PCOS group demonstrated significantly higher blood lipid, luteinizing hormone (LH), and AMH levels than the control group. Glucose and lipid metabolism and hormonal disorders in the PCOS group were more significant than in the control group among individuals with and without obesity. LH, TSTO, and AMH were identified as independent risk factors for PCOS. AMH along with LH, and antral follicle count demonstrated a high predictive value for diagnosing PCOS. CONCLUSION: AMH exhibited robust diagnostic use for identifying PCOS and could be considered a marker for screening PCOS to improve PCOS diagnostic accuracy. Attention should be paid to the effect of glucose and lipid metabolism on the hormonal and related parameters of PCOS populations.


Asunto(s)
Hormona Antimülleriana , Síndrome del Ovario Poliquístico , Femenino , Humanos , Hormona Antimülleriana/sangre , Glucosa/metabolismo , Hormona Luteinizante/sangre , Síndrome del Ovario Poliquístico/sangre , Síndrome del Ovario Poliquístico/metabolismo , Síndrome del Ovario Poliquístico/patología , Sensibilidad y Especificidad , Adulto
5.
Artículo en Inglés | MEDLINE | ID: mdl-38656731

RESUMEN

The African continent carries the greatest malaria burden in the world. Falciparum malaria especially has long been the leading cause of death in Africa. Climate, economic factors, geographical location, human intervention and unstable security are factors influencing malaria transmission. Due to repeated infections and early interventions, the proportion of clinically atypical malaria or asymptomatic plasmodium carriers has increased significantly, which easily lead to misdiagnosis and missed diagnosis. African countries have made certain progress in malaria control and elimination, including rapid diagnosis of malaria, promotion of mosquito nets and insecticides, intermittent prophylactic treatment in high-risk groups, artemisinin based combination therapies, and the development of vaccines. Between 2000 and 2022, there has been a 40% decrease in malaria incidence and a 60% reduction in mortality rate in the WHO African Region. However, many challenges are emerging in the fight against malaria in Africa, such as climate change, poverty, substandard health services and coverage, increased outdoor transmission and the emergence of new vectors, and the growing threat of resistance to antimalarial drugs and insecticides. Joint prevention and treatment, identifying molecular determinants of resistance, new drug development, expanding seasonal malaria chemo-prevention intervention population, and promoting the vaccination of RTS, S/AS01 and R21/Matrix-M may help to solve the dilemma. China's experience in eliminating malaria is conducive to Africa's malaria prevention and control, and China-Africa cooperation needs to be constantly deepened and advanced. Our review aims to help the global public develop a comprehensive understanding of malaria in Africa, thereby contributing to malaria control and elimination.

6.
Emerg Microbes Infect ; : 2348525, 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38661428

RESUMEN

OBJECTIVE: To assess the clinical applicability of a semi-quantitative luciferase immunosorbent assay (LISA) for detecting antibodies against Treponema pallidum antigens TP0171 (TP15), TP0435 (TP17), and TP0574 (TP47) in diagnosing and monitoring syphilis. METHOD: LISA for detection of anti-TP15, TP17, and TP47 antibodies was developed and evaluated for syphilis diagnosis using 261 serum samples (161 syphilis, 100 non-syphilis). 90 serial serum samples from six syphilis rabbit models (three treated, three untreated) and 110 paired serum samples from 55 syphilis patients were used to assess treatment effects by utilizing TRUST as reference. RESULTS: Compared to TPPA, LISA-TP15, LISA-TP17, and LISA-TP47 showed sensitivity of 91.9%, 96.9%, and 98.8%, specificity of 99%, 99%, and 98%, and AUC of 0.971, 0.992, and 0.995, respectively, in diagnosing syphilis. Strong correlations (rs = 0.89-0.93) with TPPA were observed. In serial serum samples from rabbit models, significant difference in the relative light unit (RLU) were observed between the treatment and control group for LISA-TP17 (days 31-51) and LISA-TP47 (days 41). In paired serum samples form syphilis patients, TRUST titers and the RLU of LISA-TP15, LISA-TP17, and LISA-TP47 decreased post treatment (P < 0.001). When TRUST titers decreased by 0, 2, 4, or ≥8-folds, the RLU decreased by 17.53%, 31.34%, 48.62%, and 72.79% for LISA-TP15; 8.84%, 17.00%, 28.37%, and 50.57% for LISA-TP17; 22.25%, 29.79%, 51.75%, and 70.28% for LISA-TP47, respectively. CONCLUSION: Semi-quantitative LISA performs well for syphilis diagnosis while LISA-TP17 is more effective for monitoring syphilis treatment in rabbit models and clinical patients.

7.
J Dent Educ ; 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38661517

RESUMEN

OBJECTIVES: Each year, approximately 5 million dental implants are placed in the United States and one out of three patients is likely to experience peri-implantitis (PI). The objectives were to compare the PI-related education, knowledge, attitudes, and professional behavior of periodontists and oral maxillofacial surgeons (OMS), and to explore relationships between these constructs of interest. METHODS: A total of 389 periodontists and 161 OMS responded to a web-based survey. Descriptive and inferential statistical analyses (independent sample t-tests, chi-square tests, and correlational analyses) were conducted. RESULTS: On average, periodontists reported a higher percentage of time spent in residency on implant surgery (21.02% vs. 7.27%; p < 0.001), better education about PI (5-point scale with 1 = not at all well: means: 2.86 vs. 2.59; p < 0.001), and better knowledge of risk factors (4.07 vs. 3.86; p < 0.001) than OMS. Periodontists argued that oral hygiene-related treatment (4.45 vs. 4.22; p = 0.001) and regeneration-focused treatments such as guided tissue regeneration (3.62 vs. 3.20; p < 0.001) contributed more to successfully treating PI and used these treatments more in their practices (4.86 vs. 4.56; p < 0.001/3.06 vs. 2.68; p < 0.001) than OMS. They also considered PI as a more serious problem than OMS (4.55 vs. 3.80; p < 0.001). The better the respondents' PI-related knowledge was, the more they considered PI as a serious problem (r = 0.19; p < 0.001). The more cases they treated per month, the more they considered PI as a serious problem (r = 0.19; p < 0.001). CONCLUSIONS: The results of the present study highlight the lack of standardization in the specialty training of periodontists and OMS. Best practice guidelines for the diagnosis and treatment of PI are needed to optimize graduate education about this important topic.

8.
Vet Parasitol Reg Stud Reports ; 50: 101019, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38644042

RESUMEN

The aims of the present study were to identify strongyles in the feces of Thoroughbred horses based on larval morphology; to detect Strongylus vulgaris using molecular diagnosis and compare results to those of feces culture; and to determine the association between the presence of S. vulgaris with corresponding animal information (age range, gender, and anthelmintic use). Feces of horses kept in six Training Centers in Rio de Janeiro State, that showed the presence of ≥500 eggs per gram of feces (EPG) were subjected to strongyle identification. Of the 520 fecal samples collected, 35 had an EPG ≥ 500. After fecal culture for L3 larvae identification, DNA was extracted, subjected to PCR to amplify the ITS2 region DNA fragment of S. vulgaris, and sequenced. A total of 3500 larvae were analyzed. Most were classified as small strong (99.7%), with an emphasis on the type A subfamily of Cyathostominae. Forms of S. vulgaris only corresponded to 0.2%. In all, 25 samples showed amplified S. vulgaris DNA products and 11 showed nucleotide sequences with high sequence identity. Fecal culture and PCR results showed poor agreement (kappa = 0.105) for S. vulgaris diagnosis. Age, gender, anthelmintic use, and anthelmintic administration interval were not statistically significant. The present study showed the presence of S. vulgaris in the feces of horses kept in Rio de Janeiro Training Centers, mainly seen via PCR, which has emerged as the most effective tool for diagnosis. This study made it possible to identify strongyles that infect horses in the region, emphasizing upon the necessity for constant monitoring of the animals.


Asunto(s)
Heces , Larva , Infecciones Equinas por Strongyloidea , Strongylus , Animales , Caballos , Heces/parasitología , Brasil , Strongylus/aislamiento & purificación , Masculino , Infecciones Equinas por Strongyloidea/diagnóstico , Infecciones Equinas por Strongyloidea/parasitología , Femenino , Enfermedades de los Caballos/diagnóstico , Enfermedades de los Caballos/parasitología , Recuento de Huevos de Parásitos/veterinaria , Reacción en Cadena de la Polimerasa/veterinaria , ADN de Helmintos/análisis , Antihelmínticos/uso terapéutico
9.
Cell Biochem Funct ; 42(3): e4018, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38644608

RESUMEN

Long noncoding RNAs (lncRNAs) are a category of noncoding RNAs characterized by their length, often exceeding 200 nucleotides. There is a growing body of data that indicate the significant involvement of lncRNAs in a wide range of disorders, including cancer. lncRNA H19 was among the initial lncRNAs to be identified and is transcribed from the H19 gene. The H19 lncRNA exhibits significant upregulation in a diverse range of human malignancies, such as breast, colorectal, pancreatic, glioma, and gastric cancer. Moreover, the overexpression of H19 is frequently associated with a worse prognosis among individuals diagnosed with cancer. H19 has been shown to have a role in facilitating several cellular processes, including cell proliferation, invasion, migration, epithelial-mesenchymal transition, metastasis, and apoptosis. This article summarizes the aberrant upregulation of H19 in human malignancies, indicating promising avenues for future investigations on cancer diagnostics and therapeutic interventions.


Asunto(s)
Neoplasias , ARN Largo no Codificante , ARN Largo no Codificante/genética , ARN Largo no Codificante/metabolismo , Humanos , Neoplasias/genética , Neoplasias/patología , Neoplasias/metabolismo , Transición Epitelial-Mesenquimal/genética , Proliferación Celular , Apoptosis , Regulación Neoplásica de la Expresión Génica , Movimiento Celular
11.
J Pharm Biomed Anal ; 245: 116167, 2024 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-38663257

RESUMEN

Wilson disease (WD) is an autosomal recessive disorder characterized by abnormal copper metabolism. The accumulation of copper in the liver can progress to liver fibrosis and, ultimately, cirrhosis, which is a primary cause of death in WD patients. Metabonomic technology offers an effective approach to investigate the traditional Chinese medicine (TCM) syndrome types of WD-related liver fibrosis by monitoring the alterations in small molecule metabolites within the body. In this study, we employed 1H-Nuclear Magnetic Resonance (1H NMR) metabonomics to assess the metabolic profiles associated with five TCM syndrome types of WD-related liver fibrosis and analyzed the diagnostic and predictive capabilities of various metabolites. The study found a variety of metabolites, each with varying levels of diagnostic and predictive capabilities. Furthermore, the discerned differential metabolic pathways were primarily associated with various pathways involving carbohydrate metabolism, amino acid metabolism, and lipid metabolism. This study has identified various characteristic metabolic markers and pathways associated with different TCM syndromes of liver fibrosis in WD, providing a substantial foundation for investigating the mechanisms underlying these TCM syndromes.

12.
Clin Chim Acta ; : 119687, 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38663473

RESUMEN

Ovarian cancers (OC) are the most common, lethal, and stage-dependent cancers at the global level, specifically in female patients. Targeted therapies involve the administration of drugs that specifically target the alterations in tumour cells responsible for their growth, proliferation, and metastasis, with the aim of treating particular patients. Presently, within the realm of gynaecological malignancies, specifically in breast and OCs, there exist various prospective therapeutic targets encompassing tumour-intrinsic signalling pathways, angiogenesis, homologous-recombination deficit, hormone receptors, and immunologic components. Breast cancers are often detected in advanced stages, primarily due to the lack of a reliable screening method. However, various tumour markers have been extensively researched and employed to evaluate the condition, progression, and effectiveness of medication treatments for this ailment. The emergence of recent technological advancements in the domains of bioinformatics, genomics, proteomics, and metabolomics has facilitated the exploration and identification of hitherto unknown biomarkers. The primary objective of this comprehensive review is to meticulously investigate and analyze both established and emerging methodologies employed in the identification of tumour markers associated with OC.

13.
J Mol Diagn ; 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38663495

RESUMEN

Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. However, the previous method could not be performed on challenging genome loci (e.g. CNVs, deletions, inversions, or gene recombinants) or on families without proband genotype. Here, this study assesses the performance of relative haplotype dosage analysis (RHDO)-based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL. Fifty couples carrying pathogenic variants associated with ARNSHL in either GJB2 or SLC26A4 were recruited. The RHDO-based targeted linked-read sequencing combined with whole gene coverage probes was used to genotype the fetal cell-free DNA (cfDNA) of 49 families that met the quality control standard.. Fetal amniocyte samples were genotyped using invasive prenatal diagnosis (IPD) to assess the performance of NIPD. The NIPD results showed 100%(49/49) concordance with those obtained through IPD. Two families with copy number variation and recombination were also successfully identified. Sufficient specific informative SNPs for haplotyping, as well as the fetal cfDNA concentration and sequencing depth, are prerequisites for RHDO-based NIPD. This method has the merits of covering the entire genes of GJB2 and SLC26A4, qualifying for copy number variation and recombination analysis with remarkable sensitivity and specificity. Therefore, it has clinical potential as an alternative to traditional IPD for ARNSHL.

14.
J Proteomics ; : 105180, 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38663548

RESUMEN

OBJECTIVE: This study aimed to identify a set of serum miRNAs as potential biomarkers for lung cancer diagnosis using algorithmic approaches. METHODS: Serum miRNA expression data from lung cancer patients and non-tumor controls were obtained. The top six miRNAs were selected using Boruta-shap and RFC-RFECV algorithms. A Gaussian Naive Bayes (NB) classifier was trained and evaluated using cross-validation, ROC curve analysis, and evaluation metrics. RESULTS: Six miRNAs (hsa-miRNA-144, hsa-miRNA-107, hsa-miRNA-484, hsa-miRNA-103, hsa-miRNA-26b, and hsa-miRNA-641) were identified as feature genes. The NB classifier achieved an area under curve (AUC) of 0.8966 and a mean AUC of 0.88 in cross-validation. Accuracy, recall, and F1 scores exhibited promising results, with an accuracy of 82%. In the validation set, the AUC values for the NB and SVC classifiers were 0.9345 and 0.9423, respectively, with a mean AUC of 0.95 in cross-validation. The classifiers demonstrated an accuracy of 89% in diagnosing lung cancer. CONCLUSION: This study identified a panel of six serum miRNAs with potential as non-invasive biomarkers for lung cancer diagnosis. These miRNAs show promise in providing sensitive and specific tools for detecting lung cancer. SIGNIFICANCE: Lung cancer is one of the top cancers worldwide, threatening the health and lives of tens of thousands of people. miRNA is a biomarker, which can be used as a potential clinical tool for diagnosis and prognosis of cancer patients. Therefore, the use of multiple miRNAs to construct diagnostic models may be one of the future methods of accurate diagnosis of lung cancer. In this study, we used the Boruta-shap and RFC-RFECV algorithms to automatically identify and extract characteristic miRNAs highly associated with lung cancer, thereby establishing an accurate classifier for the diagnosis of lung cancer with characteristic miRNAs.

15.
Actas Dermosifiliogr ; 2024 Apr 23.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38663729

RESUMEN

Chronic nodular prurigo (CNP) is a chronic dermatological disease characterized by the presence of chronic pruritus and pruritic nodular lesions. The aim of this study was to reach consensus among a group of experts based on a non-systematic literature review and an algorithm for the clinical diagnosis of CNP. The resulting algorithm is structured in 3 blocks: 1) early identification of the patient with a possible diagnosis of CNP; 2) diagnosis and assessment of CNP; and 3) categorization of CNP (identification of the underlying causes or associated comorbidities). We believe that this clinical algorithm can facilitate the correct diagnosis of patients with CNP. Additionally, it raises awareness on the need for a multidisciplinary approach and specific treatment of CNP, steps of paramount importance to make better therapeutic decisions.

16.
Actas Dermosifiliogr ; 2024 Apr 23.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38663730

RESUMEN

Syphilis-the "great simulator" for classical venereologists-is re-emerging in Western countries despite adequate treatment; several contributing factors have been identified, including changes in sexual behaviour, which won't be the topic of this article though. In 2021, a total of 6613 new cases of syphilis were reported in Spain, representing an incidence of 13.9 x 100 000 inhabitants (90.5%, men). Rates have increased progressively since 2000. The clinical presentation of syphilis is heterogeneous. Although chancroid, syphilitic roseola and syphilitic nails are typical lesions, other forms of the disease can be present such as non-ulcerative primary lesions like Follmann balanitis, chancres in the oral cavity, patchy secondary lingual lesions, or enanthema on the palate and uvula, among many others. Regarding diagnosis, molecular assays such as PCR have been replacing dark-field microscopy in ulcerative lesions while automated treponemal tests (EIA, CLIA) are being used in serological tests, along with classical tests (such as RPR and HAART) for confirmation and follow-up purposes. The interpretation of these tests should be assessed in the epidemiological and clinical context of the patient. HIV serology and STI screening should be requested for anyone with syphilis. Follow-up of patients under treatment is important to ensure healing and detect reinfection. Serological response to treatment should be assessed with the same non-treponemal test (RPR/VDRL); 3-, 6-, 12-, and 24-month follow-up is a common practice in people living with HIV (PLHIV). Sexual contacts should be assessed and treated as appropriate. Screening is advised for pregnant women within the first trimester of pregnancy. Pregnant women with an abortion after week 20 should all be tested for syphilis. The treatment of choice for all forms of syphilis, including pregnant women and PLHIV, is penicillin. Macrolides are ill-advised because of potential resistance.

17.
J Int Med Res ; 52(4): 3000605241240995, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38663880

RESUMEN

Intussusception is defined as the invagination of a proximal segment of the bowel into the adjoining or distal segment. In most adults with intussusception, there is a demonstrable lead point with a definite pathologic abnormality. The clinical features of intussusception include chronic intermittent abdominal pain, nausea and vomiting, constipation, and a palpable abdominal mass. The present case report describes a 62-year-old woman with a 2-week history of abdominal pain and 9-day history of vomiting. Clinical, imaging, and histologic evaluations revealed a jejunojejunal intussusception with a gastrointestinal stromal tumor as the lead point. A gastrointestinal stromal tumor should be considered as a possible lead point in adult patients with intussusception. The implication of reducing the intussusception prior to tumor resection requires further evaluation in view of the risk of venous embolism, including direct spread of malignant cells, in cases involving a large polypoid mass with a necrotic surface that extends to the serosa as shown by intraoperative examination. Accordingly, the rationale for adjuvant therapy with imatinib also requires further evaluation.


Asunto(s)
Tumores del Estroma Gastrointestinal , Intususcepción , Humanos , Intususcepción/etiología , Intususcepción/cirugía , Intususcepción/diagnóstico , Intususcepción/patología , Intususcepción/diagnóstico por imagen , Femenino , Tumores del Estroma Gastrointestinal/complicaciones , Tumores del Estroma Gastrointestinal/patología , Tumores del Estroma Gastrointestinal/cirugía , Tumores del Estroma Gastrointestinal/diagnóstico , Persona de Mediana Edad , Enfermedades del Yeyuno/etiología , Enfermedades del Yeyuno/cirugía , Enfermedades del Yeyuno/diagnóstico , Enfermedades del Yeyuno/patología , Tomografía Computarizada por Rayos X , Dolor Abdominal/etiología
18.
Pediatr Allergy Immunol ; 35(4): e14129, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38664926

RESUMEN

Monitoring is a major component of asthma management in children. Regular monitoring allows for diagnosis confirmation, treatment optimization, and natural history review. Numerous factors that may affect disease activity and patient well-being need to be monitored: response and adherence to treatment, disease control, disease progression, comorbidities, quality of life, medication side-effects, allergen and irritant exposures, diet and more. However, the prioritization of such factors and the selection of relevant assessment tools is an unmet need. Furthermore, rapidly developing technologies promise new opportunities for closer, or even "real-time," monitoring between visits. Following an approach that included needs assessment, evidence appraisal, and Delphi consensus, the PeARL Think Tank, in collaboration with major international professional and patient organizations, has developed a set of 24 recommendations on pediatric asthma monitoring, to support healthcare professionals in decision-making and care pathway design.


Asunto(s)
Asma , Humanos , Asma/diagnóstico , Asma/terapia , Niño , Calidad de Vida , Antiasmáticos/uso terapéutico , Técnica Delfos , Monitoreo Fisiológico/métodos
19.
Artículo en Inglés | MEDLINE | ID: mdl-38665000

RESUMEN

Objective: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n=3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral antidiabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

20.
Head Neck ; 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38665037

RESUMEN

BACKGROUND: The causes for delays during the COVID19 pandemic and their impact on head and neck cancer (HNC) diagnosis and staging are not well described. METHODS: Two cohorts were defined a priori for review and analysis-a Pre-Pandemic cohort (June 1 to December 31, 2019) and a Pandemic cohort (June 1 to December 31, 2020). Delays were categorized as COVID-19 related or not, and as clinician, patient, or policy related. RESULTS: A total of 638 HNC patients were identified including 327 in the Pre-Pandemic Cohort and 311 in the Pandemic Cohort. Patients in the Pandemic cohort had more N2-N3 category (41% vs. 33%, p = 0.03), T3-T4 category (63% vs. 50%, p = 0.002), and stage III-IV (71% vs. 58%, p < 0.001) disease. Several intervals in the diagnosis to treatment pathway were significantly longer in the pandemic cohort as compared to the Pre-Pandemic cohort. Among the pandemic cohort, 146 (47%) experienced a delay, with 112 related to the COVID-19 pandemic; 80 (71%) were clinician related, 15 (13%) were patient related, and 17 (15%) were policy related. CONCLUSIONS: Patients in the Pandemic cohort had higher stage disease at diagnosis and longer intervals along the diagnostic pathway, with COVID-19 related clinician factors being the most common cause of delay.

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