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1.
BMC Med Inform Decis Mak ; 24(1): 219, 2024 Aug 02.
Article de Anglais | MEDLINE | ID: mdl-39095826

RÉSUMÉ

PURPOSE: This study aimed to create and validate robust machine-learning-based prediction models for antipsychotic drug (risperidone) continuation in children and teenagers suffering from mania over one year and to discover potential variables for clinical treatment. METHOD: The study population was collected from the national claims database in China. A total of 4,532 patients aged 4-18 who began risperidone therapy for mania between September 2013 and October 2019 were identified. The data were randomly divided into two datasets: training (80%) and testing (20%). Five regularly used machine learning methods were employed, in addition to the SuperLearner (SL) algorithm, to develop prediction models for the continuation of atypical antipsychotic therapy. The area under the receiver operating characteristic curve (AUC) with a 95% confidence interval (CI) was utilized. RESULTS: In terms of discrimination and robustness in predicting risperidone treatment continuation, the generalized linear model (GLM) performed the best (AUC: 0.823, 95% CI: 0.792-0.854, intercept near 0, slope close to 1.0). The SL model (AUC: 0.823, 95% CI: 0.791-0.853, intercept near 0, slope close to 1.0) also exhibited significant performance. Furthermore, the present findings emphasize the significance of several unique clinical and socioeconomic variables, such as the frequency of emergency room visits for nonmental health disorders. CONCLUSIONS: The GLM and SL models provided accurate predictions regarding risperidone treatment continuation in children and adolescents with episodes of mania and hypomania. Consequently, applying prediction models in atypical antipsychotic medicine may aid in evidence-based decision-making.


Sujet(s)
Neuroleptiques , Apprentissage machine , Manie , Rispéridone , Humains , Adolescent , Neuroleptiques/usage thérapeutique , Femelle , Rispéridone/usage thérapeutique , Mâle , Enfant , Manie/traitement médicamenteux , Enfant d'âge préscolaire , Chine , Trouble bipolaire/traitement médicamenteux , Résultat thérapeutique
2.
Clin Ter ; 175(Suppl 2(4)): 219-222, 2024.
Article de Anglais | MEDLINE | ID: mdl-39101431

RÉSUMÉ

Background: Gunshot suicides are more common in those people who live in countries with greater cultural accessibility of firearms and whose weapon's availability and use are easier. In the case of suicide by firearm, the most typical site of the entrance hole is represented by the temple, the forehead or the submental region, while only in a smaller percentage of cases is intra-oral. Case report: We present a particular case of suicide of an 85-year-old man, using a single-charge, short-barrelled firearm. The shot was fired on contact, with the entrance hole located at the tongue. The bullet remained held inside the body and there was no exit hole on the skin. A rigorous and multidisciplinary methodological approach was adopted, including an accurate judicial inspection of the environment, an anamnestic collection, an autoptic procedure completed by macroscopic and microscopic examination of the entrance hole and internal organs, and a radiological examination. Conclusions: In cases of gunshot suicide involving the intra-oral region, the tongue is rarely affected. Normally, the victim points the weapon upwards and the bullet follows this direction. When the entrance hole is on an atypical site, and different from the skin, and the trajectory are inusual, the interpretation of the dynamic of the event is more complex. So, it is essential to conduct a complete investigation, including the information of the forensic examination, with the data emerged in autopsy, radiological and histological examination.


Sujet(s)
Suicide réussi , Plaies par arme à feu , Humains , Mâle , Sujet âgé de 80 ans ou plus , Langue/traumatismes , Langue/anatomopathologie
3.
Pediatr Nephrol ; 2024 Aug 03.
Article de Anglais | MEDLINE | ID: mdl-39097532

RÉSUMÉ

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy. Genetic defects in the alternative complement (AP) pathway have been identified in 60-70% of individuals. Eculizumab is recommended as a first-line therapy. METHODS: We collected the clinical data of a pediatric patient with aHUS accompanied by protein-losing enteropathy (PLE). Genetic testing was performed. Related literature on aHUS combined with PLE was reviewed. RESULTS: A 15-year-old Chinese girl was diagnosed with aHUS at 3.7 years of age and experienced five episodes; her symptoms completely resolved with plasma treatment. Severe gastrointestinal symptoms and hypoalbuminemia presented after the first episode, and PLE was diagnosed. A novel homozygous CD46 variant was identified, and FACS revealed significantly decreased CD46 expression. She presented at a recent relapse with persistent GI symptoms and headache and progressed to chronic kidney failure; peritoneal dialysis was initiated. Eculizumab was given 8 months after the last recurrence. Surprisingly, PLE was cured. Afterward, dialysis was discontinued, and eGFR recovered to 44.8 ml/min/1.73 m2. A review of the literature indicated that PLE with thrombosis was caused by CD55 variants via hyperactivation of the AP system. We report an aHUS patient with PLE caused by CD46 variants. Symptoms of both PLE and aHUS were significantly alleviated in our patient and patients with CD55 variants treated with eculizumab, indicating that PLE was a new symptom of aHUS in our patient with a CD46 variant. CONCLUSIONS: Our case expands the phenotype of aHUS caused by a CD46 mutation and provides evidence of the efficacy of eculizumab after a long phase of chronic kidney failure.

4.
Cancers (Basel) ; 16(15)2024 Jul 23.
Article de Anglais | MEDLINE | ID: mdl-39123354

RÉSUMÉ

BACKGROUND: Since October 2018, lymph node status has become part of the FIGO staging, given that it is one of the most important prognostic factors among women with CC. The aim was to determine the rate of atypical lymphatic drainage in patients with clinical early-stage cervical cancer using a hybrid tracer (ICG-99mTc nanocolloid). METHODOLOGY: A prospective, observational, single-centre study conducted at Son Espases University Hospital between January 2019 and October 2023. Patients with clinical early-stage CC who underwent SLN mapping were included. External iliac and obturator nodes were defined as common locations. Para-aortic, common iliac, presacral, internal iliac, and parametrial nodes were defined as atypical locations. RESULTS: Thirty-nine cases of CC were included. The overall SLN detection rate was 97.4%, with 89.5% bilaterally. Positive nodes were found in 21.1% of patients. Atypical lymphatic drainage was present in 8 out of 38 (21.1%) patients. Of all the SLNs biopsied (146), 10.3% corresponded to an atypical zone. SLN in the atypical area had a higher proportion of metastasis than the usual area (37.5% vs. 16.7%; p = 0.327). CONCLUSIONS: SLN biopsy can detect unusual drainage in a significant proportion of patients. Atypical lymph nodes have a higher percentage of metastasis, which consequently improves staging and tailoring therapy. SLN mapping performed via a standardized surgical technique using a hybrid tracer (ICG-99mTc) could help in the identification of the "true SLN".

5.
Cureus ; 16(7): e64316, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-39130906

RÉSUMÉ

Parkinson's disease (PD) is among the most common neurodegenerative diseases. Parkinson's disease psychosis (PDP) is a potential psychiatric manifestation of PD that is associated with increased morbidity and mortality. The treatment of PD with concomitant PDP is challenging as standard-of-care medication to improve motor symptoms can cause or exacerbate PDP. In this case report, we present an atypical presentation of a 70-year-old female who developed PDP only four years after her initial PD diagnosis, much earlier than the established average. Treatment was particularly complex as her PDP symptoms were refractory to PD medication reduction and oral antipsychotics, yet her PD motor symptoms were well controlled with a deep brain stimulator (DBS). We discuss a combination of pimavanserin and maintenance electroconvulsive therapy (ECT) as a safe and efficacious treatment modality which has led to remission of her PDP while DBS continues to provide adequate management of her PD symptoms. This case improves upon the early recognition of PDP and outlines a unique treatment modality not well described in the literature. This is the only case that demonstrates the efficacy of combining pimavanserin and ECT for refractory PDP in a patient with a DBS.

6.
JBMR Plus ; 8(9): ziae097, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-39135632

RÉSUMÉ

Atypical femur fractures (AFFs) are a well-established complication of long-term bisphosphonate (BP) therapy, but their pathogenesis is not fully understood. Although many patients on long-term BP therapy have severe suppression of bone turnover (SSBT), not all such patients experience AFF, even though SSBT is a major contributor to AFF. Accordingly, we evaluated tissue level properties using nano-scratch testing of trans-iliac bone biopsy specimens in 12 women (6 with and 6 without AFF matched for age and race). Nano-scratch data were analyzed using a mixed-model ANOVA with volume-normalized scratch energy as a function of AFF (Yes or No), region (periosteal or endosteal), and a first-order interaction between region and AFF. Tukey post hoc analyses of the differences of least squared means of scratch energy were performed and reported as significant if p<.05. The volume-normalized scratch energy was 10.6% higher in AFF than in non-AFF patients (p=.003) and 17.9 % higher in the periosteal than in the endosteal region (p=.004). The differences in normalized scratch energy are suggestive of a higher hardness of the bone tissue after long-term BP therapy. The results of this study are consistent with other studies in the literature and demonstrate the efficacy of using Nano-Scratch technique to evaluate bone tissue that exhibits SSBT and AFF. Further studies using nano-scratch may help quantify and elucidate underlying mechanisms for the pathogenesis of AFF.

7.
PCN Rep ; 3(3): e233, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-39135780

RÉSUMÉ

Background: Cognitive abnormalities associated with electroconvulsive therapy (ECT) are limited to the first few days after treatment. Mismatch negativity (MMN) is an event-related potential that reflects an automatic auditory change detection process under nonattention conditions and cognitive function in psychotic disorders and may be trait- or state-dependent. This study aimed to report the changes in MMN and cognitive function after two ECT treatments in a female patient who underwent maintenance ECT for atypical psychosis. Case Presentation: A 67-year-old Japanese woman with atypical psychosis was admitted to our hospital for the maintenance of ECT. She received two ECT treatments. We measured her duration-MMN (MMN-D) at baseline, the day after two ECT treatments, and approximately 40 days after the two ECT treatments. After the two ECT treatments, the peak latency of the MMN on the following day was delayed compared with that before the first ECT treatment. Forty days after the two ECT treatments, the peak latency reverted to the baseline. The Brief Assessment of Cognition in Schizophrenia scores measured at the same time point also showed a similar temporary decrease in scores. Conclusion: Peak latency prolongation in MMN-D may reflect transient cognitive abnormalities after ECT. MMN can be useful to evaluate cognitive dysfunction, one of the adverse events of ECT. However, future studies are needed to examine the reproducibility and to examine the results in diseases other than atypical psychosis.

8.
J Bone Miner Res ; 2024 Aug 10.
Article de Anglais | MEDLINE | ID: mdl-39126371

RÉSUMÉ

BACKGROUND: Several small genetic association studies have been conducted for atypical femur fracture (AFF) without replication of results. We assessed previously implicated and novel genes associated with AFFs in a larger set of unrelated AFF cases using whole exome sequencing (WES). METHODS: We performed gene-based association analysis on 139 European AFF cases and 196 controls matched for bisphosphonate use. We tested all rare, protein-altering variants using both candidate gene and hypothesis-free approaches. In the latter, genes suggestively associated with AFFs (uncorrected P-values <0.01) were investigated in a Swedish whole-genome sequencing replication study and assessed in 46 non-European cases. RESULTS: In the candidate gene analysis, PLOD2 showed a suggestive signal. The hypothesis-free approach revealed 10 tentative associations, with XRN2, SORD, and PLOD2 being the most likely candidates for AFF. XRN2 and PLOD2 showed consistent direction of effect estimates in the replication analysis, albeit not statistically significant. Three SNPs associated with SORD expression according to the GTEx portal, were in linkage disequilibrium (R2 ≥ 0.2) with a SNP previously reported in a genome-wide association study of AFF. The prevalence of carriers of variants for both PLOD2 and SORD was higher in Asian versus European cases. CONCLUSIONS: While we did not identify genes enriched for damaging variants, we found suggestive evidence of a role for XRN2, PLOD2 and SORD, which requires further investigation. Our findings indicate that genetic factors responsible for AFFs are not widely shared among AFF cases. The study provides a stepping-stone for future larger genetic studies of AFF.


We investigated the genetic factors contributing to atypical femur fractures (AFF), which are rare and unusual fractures in the thigh bone These fractures are related to the use of bisphosphonates, which are prescribed to prevent fractures caused by osteoporosis. Previous studies suggested potential genetic links, but their findings were not confirmed in larger groups. To address this, we analyzed genetic data from 139 European individuals with AFF and 196 individuals without AFF, all of whom used bisphosphonates, using a genetic technique called whole exome sequencing (WES). Our results suggested three genes­XRN2, SORD, and PLOD2­might be linked to AFF, although the evidence was not conclusive. Importantly, our findings suggest that AFF may be caused by different genes in different individuals. A much larger sample size is now needed to fully understand the genetic architecture of AFF. These findings may guide future research into the genetic causes of AFF.

9.
J Med Virol ; 96(8): e29851, 2024 Aug.
Article de Anglais | MEDLINE | ID: mdl-39132689

RÉSUMÉ

Here, we performed single-cell RNA sequencing of S1 and receptor binding domain protein-specific B cells from convalescent COVID-19 patients with different clinical manifestations. This study aimed to evaluate the role and developmental pathway of atypical memory B cells (MBCs) in response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The results revealed a proinflammatory signature across B cell subsets associated with disease severity, as evidenced by the upregulation of genes such as GADD45B, MAP3K8, and NFKBIA in critical and severe individuals. Furthermore, the analysis of atypical MBCs suggested a developmental pathway similar to that of conventional MBCs through germinal centers, as indicated by the expression of several genes involved in germinal center processes, including CXCR4, CXCR5, BCL2, and MYC. Additionally, the upregulation of genes characteristic of the immune response in COVID-19, such as ZFP36 and DUSP1, suggested that the differentiation and activation of atypical MBCs may be influenced by exposure to SARS-CoV-2 and that these genes may contribute to the immune response for COVID-19 recovery. Our study contributes to a better understanding of atypical MBCs in COVID-19 and the role of other B cell subsets across different clinical manifestations.


Sujet(s)
COVID-19 , Cellules B mémoire , SARS-CoV-2 , Analyse sur cellule unique , Humains , COVID-19/immunologie , COVID-19/virologie , COVID-19/génétique , SARS-CoV-2/immunologie , SARS-CoV-2/génétique , Cellules B mémoire/immunologie , Mâle , Adulte , Femelle , Adulte d'âge moyen , Analyse de profil d'expression de gènes , Transcriptome , Centre germinatif/immunologie , Lymphocytes B/immunologie , Sujet âgé
10.
Drug Discov Today ; : 104134, 2024 Aug 05.
Article de Anglais | MEDLINE | ID: mdl-39111540

RÉSUMÉ

Eculizumab is an orphan drug with indications for extremely rare autoimmune disorders. It is primarily prescribed for use in patients with paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome; but is also highly effective in the treatment of myasthenia gravis, among others. By binding to the C5 protein in the complement system, eculizumab effectively inhibits cellular hemolysis and autoimmune reactions. Despite this effective treatment, some patients reported no improvement in symptoms. Genetic sequencing revealed three distinct C5 mutations in the non-responders and these polymorphisms appeared to be most prevalent among Japanese, Korean and African populations. Here, we present an overview of the current and potential future applications of eculizumab, as well as the disadvantages of eculizumab treatment in patients with C5 polymorphisms.

11.
J Indian Assoc Pediatr Surg ; 29(4): 351-355, 2024.
Article de Anglais | MEDLINE | ID: mdl-39149438

RÉSUMÉ

Introduction: Atypical or nontuberculous mycobacteria (NTM) are an environmental organism responsible for opportunistic infection. Rapid-growing NTM are more commonly associated with hospital-acquired infections. Many of the organisms responsible for diseases in immunocompromised patients and hospital-acquired infections originate from tap water, such as Mycobacterium kansasii, Mycobacterium xenopi, Mycobacterium gordonae, Mycobacterium simiae, Mycobacterium mucogenicum, Mycobacterium fortuitum, Mycobacterium chelonae, and Mycobacterium abscessus. NTM is a rare organism responsible for the injection abscess. Considering low incidents, not much clinical data are available for this condition. Here, we discuss such cases which can be helpful to spread awareness and provide data for future policy makers. Materials and Methods: This was a retrospective study. Data on patients with injection abscess were collected from the last 6 years. Detailed history and clinical examination findings were analyzed. Children with injection abscess were operated and their further management and outcome were studied. Results: A total of 13 cases with confirmed culture of NTM were treated over 6 years. The age ranged from 2½ months to 5¾ years with male:female ratio of 7:6. All patients hailed from the same geographical area. All children were healthy with no history of any long-term or chronic illness, without additional symptoms and had received Bacillus Calmette-Guérin vaccination at birth. The total duration of illness varied from 1 to 5 months, with a mean of 3 months. All patients had a history of intramuscular age-appropriate vaccination as per the national immunization schedule. All patients were followed up to 6 months after intervention and none of our patients developed relapse. Conclusion: Patient who does not respond with optimum treatment should have a high suspicion of such opportunistic infection, which is crucial to their management. Hospital-acquired NTM infections often result from contaminated instruments or fluids. Adherence to strict aseptic precautions, hand hygiene and environmental precautions are the key to preventing these infections. In case of skin and soft tissue infections / abscesses, surgical intervention plays a significant role for managing the patient.

12.
Clin Park Relat Disord ; 11: 100266, 2024.
Article de Anglais | MEDLINE | ID: mdl-39149560

RÉSUMÉ

Introduction: Progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA) are rare neurodegenerative diseases associated with rapid decline and require complex symptom management. Caregiving responsibilities significantly increase with progression of these atypical Parkinsonian syndromes, yet care burden in these syndromes has not been researched extensively to date. Methods: The Zarit Burden Interview (ZBI) was used to assess burden in care partners of patients clinically diagnosed with PSP, CBS, or MSA seen in specialty interdisciplinary clinics at two academic movement disorders centers. Univariable and multivariable regression analyses were performed to evaluate cross-sectional demographic and clinical determinants of care partner burden. Results: A total of 139 care partners completed the ZBI (59.0% PSP, 28.1% MSA, 12.9% CBS). Cohorts at both medical centers were similar across all variables. Female gender of both patients and care partners was independently associated with higher ZBI scores. Additionally, MSA-Parkinsonian type was significantly associated with lower total care partner burden compared to PSP and CBS. Conclusion: Several determinants of higher care partner burden in atypical Parkinsonian syndromes were identified, particularly female gender and diagnosis. Healthcare professionals can consider this information when assessing individualized needs of patients and care partners and referring to disease-specific resources. Additionally, this study's methods and results highlight the potential to further explore interdisciplinary care as a means of comprehensive evaluation and support for those with atypical Parkinsonism.

13.
Int J Surg Pathol ; : 10668969241266935, 2024 Aug 16.
Article de Anglais | MEDLINE | ID: mdl-39150796

RÉSUMÉ

Five atypical thymomas (WHO type B3) with prominent microcystic and mucoid changes are presented. The patients were four men and one woman between the ages of 57 and 72 years. The patients presented with non-specific symptoms of cough, chest pain, and dyspnea. None of the patients had a history of myasthenia gravis. Diagnostic imaging revealed the presence of anterior mediastinal masses and surgical resection was accomplished in all patients. Macroscopically, the tumors ranged in size from 3.5 to 5.0 cm in greatest diameter; four of these were well circumscribed but unencapsuled, tan colored tumors without evidence of necrosis, hemorrhage, or gross cystic changes. One tumor had more infiltrative borders and was involving the mediastinal pleura. Microscopically, the low power view was characterized by prominent microcysts that were filled with a mucoid granular material. Higher magnification demonstrated a homogenous epithelial proliferation with mild cytologic atypia but lacking mitotic activity. Focal areas of squamoid differentiation were identified but perivascular spaces were absent. Histochemical staining confirmed mucinous material in the microcysts but no intracytoplasmic mucin. Immunohistochemical stains showed positive staining of the tumor cells with keratin AE1/AE3, keratin 5/6, p63, and p40. No terminal deoxynucleotidyl transferase+/CD3 + immature lymphocytes were identified. Clinical follow-up demonstrated that four patients have remained alive without recurrence while one patient was lost to follow-up. This report highlights histological features in atypical thymoma that may be confused with other tumors, especially thymic mucoepidermoid carcinoma. Separation of these tumors may be important for patient management and prognosis.

14.
Hum Genomics ; 18(1): 87, 2024 Aug 15.
Article de Anglais | MEDLINE | ID: mdl-39148098

RÉSUMÉ

BACKGROUND: Recent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencing in genes involved in monogenic rare skeletal diseases in 12 women with AFF and 4 controls without any fracture. RESULTS: Out of 33 genetic variants identified in women with AFF, eleven (33.3%) were found in genes belonging to the Wnt pathway (LRP5, LRP6, DAAM2, WNT1, and WNT3A). One of them was rated as pathogenic (p.Pro582His in DAAM2), while all others were rated as variants of uncertain significance according to ClinVar and ACMG criteria. CONCLUSIONS: Osteoporosis, rare bone diseases, and AFFs may share the same genes, thus making it even more difficult to identify unique risk factors.


Sujet(s)
, Fractures du fémur , Protéine-5 apparentée au récepteur des LDL , Protéine-6 apparentée au récepteur des LDL , Humains , Femelle , Fractures du fémur/génétique , Fractures du fémur/anatomopathologie , Protéine-5 apparentée au récepteur des LDL/génétique , Protéine-6 apparentée au récepteur des LDL/génétique , Adulte d'âge moyen , Sujet âgé , Prédisposition génétique à une maladie , Protéine Wnt1/génétique , Protéine Wnt3A/génétique , Voie de signalisation Wnt/génétique , Ostéoporose/génétique , Ostéoporose/anatomopathologie , Maladies osseuses/génétique , Études cas-témoins
15.
Cureus ; 16(7): e64503, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-39139315

RÉSUMÉ

Intracranial meningiomas are the most common primary brain tumors, typically presenting with well-defined imaging characteristics. This case report focuses on a 56-year-old female patient who was referred due to a history of head trauma and an incidental space-occupying finding to investigate the atypical imaging appearances of intracranial meningiomas, focusing on a specific case with distinct radiological findings. Meningiomas are commonly associated with specific radiological features, such as contrast enhancement, dural tail, and hyperostosis. However, this particular case exhibited atypical imaging characteristics that raised concerns about the underlying tumor type. In-depth analysis and subsequent histopathological examination revealed a World Health Organization (WHO) grade II atypical meningioma. This variant of meningioma demonstrated increased cellularity, nuclear atypia, and a high mitotic index, indicating more aggressive tumor behavior. The study highlights the importance of recognizing atypical imaging appearances in meningiomas, as they may indicate higher-grade tumors with a potentially different clinical course and management approach. Accurate identification of these atypical features can contribute to improved diagnostic accuracy and guide appropriate surgical decision-making for patients with intracranial meningiomas.

16.
Cureus ; 16(7): e64491, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-39139318

RÉSUMÉ

Nocardiosis is an opportunistic infectious pathology of low incidence that usually affects the lungs, skin, and brain. It has been implicated in causing serious and potentially fatal infections without treatment. It affects immunocompetent and immunocompromised patients. In immunocompetent patients, it is presented with local conditions, and in immunocompromised patients, it is seen in disseminated forms. We present the case of a 61-year-old male immunocompetent patient with a high suspicion of pulmonary carcinoma, in whom pathology showed infection by Nocardia spp.

18.
Rozhl Chir ; 103(7): 269-274, 2024.
Article de Anglais | MEDLINE | ID: mdl-39142853

RÉSUMÉ

INTRODUCTION: Thanks to mammographic screening and the improvement of breast cancer diagnostics, the detection of precancers is also increasing. They are defined as morphological changes of the mammary gland which are more likely to cause cancer. The evaluated precancers are atypical ductal hyperplasia (ADH), lobular carcinoma in situ (LCIS) and radial scar. METHODOLOGY: In the period 1. 1. 2018-31. 12. 2022, we performed 1,302 planned operations for breast disease at the Surgical Clinic of Teaching Hospital Plzen, of which 30 (2%) were precancer operations. ADH was confirmed 11×, LCIS 8×, and a radical scar 11×. The average age of the patients in all three groups was 56 years (27-85). Precancer was diagnosed 8× only by sonography, 3× by mammography and 19× by a combination of both methods. Subsequently, a puncture biopsy was always completed. We performed 28 tumor excisions with intraoperative biopsy and 2 mastectomies. RESULTS: In the case of ADH from puncture biopsy, ADH was confirmed intraoperatively 8×, DCIS was diagnosed 2×, and mucinous carcinoma 1×. In LCIS, no tumor was found by intraoperative biopsy 4×, LCIS was confirmed 1×, lobular invasive carcinoma was diagnosed 1×, mastectomy was performed 2× without intraoperative biopsy. In the radial scar, ADH was diagnosed 3×, sclerosing adenosis 6×, DCIS 1×, invasive carcinoma 1×. After the final histological processing of the samples, there was an increase in diagnosed carcinomas. In ADH, DCIS was confirmed 3×, DIC 2×, and mucinous carcinoma 1×. In LCIS, LIC was diagnosed 3×. In the radial scar, DCIS was confirmed 1×, and invasive carcinoma remain 1×. Thus, carcinoma was diagnosed in 11 patients (37%) thanks to the surgical solution. No patient underwent axillary node surgery. All 11 patients subsequently underwent oncological treatment, always a combination of radiotherapy and hormone therapy. All patients are alive, 10 patients are in complete remission of the disease, one with DCIS experienced a local recurrence after 4 years. CONCLUSION: Surgical treatment of precancers of the breast makes sense, DCIS or even invasive cancer is often hidden in addition to precancer. Thanks to the surgical solution, the cancer was detected in time.


Sujet(s)
Tumeurs du sein , États précancéreux , Humains , Femelle , Adulte d'âge moyen , Tumeurs du sein/chirurgie , Tumeurs du sein/anatomopathologie , Tumeurs du sein/imagerie diagnostique , Adulte , Sujet âgé , États précancéreux/chirurgie , États précancéreux/anatomopathologie , États précancéreux/imagerie diagnostique , Sujet âgé de 80 ans ou plus , Carcinome intracanalaire non infiltrant/chirurgie , Carcinome intracanalaire non infiltrant/anatomopathologie , Carcinome intracanalaire non infiltrant/imagerie diagnostique , Mastectomie , Mammographie
19.
Sci Rep ; 14(1): 18265, 2024 08 06.
Article de Anglais | MEDLINE | ID: mdl-39107421

RÉSUMÉ

Atypical haemolytic uremic syndrome (aHUS) is a rare disorder characterised by complement-mediated thrombotic microangiopathy (TMA). Despite clinical guidelines, the diagnosis and treatment of aHUS in its early stages remains challenging. This study examined the annual trends in aHUS clinical practices in Japan and explored factors influencing early diagnosis and treatment. Using data from the 2011-2020 Diagnosis Procedure Combination database, 3096 cases with the HUS disease code were identified, of which 217 were confirmed as aHUS and treated with eculizumab or plasma exchange. Early initiation, defined as starting eculizumab or plasma exchange within 7 days of admission, was the focus of the study. Our study revealed no significant changes over time in the number of aHUS diagnoses, cases treated with eculizumab, or early initiation cases. Early initiation cases underwent haemodialysis earlier and had ADAMTS13 activity measured earlier, shorter hospital stays, and lower hospitalisation costs than late initiation cases. In conclusion, we found no increase in the number of newly diagnosed aHUS cases or early treatment initiation over time. Early recognition of TMA and differentiation of the causative disease are crucial for identifying potential aHUS cases, which may lead to better patient prognoses.


Sujet(s)
Anticorps monoclonaux humanisés , Syndrome hémolytique et urémique atypique , Diagnostic précoce , Échange plasmatique , Humains , Syndrome hémolytique et urémique atypique/diagnostic , Syndrome hémolytique et urémique atypique/thérapie , Syndrome hémolytique et urémique atypique/épidémiologie , Japon/épidémiologie , Femelle , Études rétrospectives , Mâle , Adulte , Anticorps monoclonaux humanisés/usage thérapeutique , Adulte d'âge moyen , Adolescent , Protéine ADAMTS13 , Jeune adulte , Sujet âgé , Enfant , Enfant d'âge préscolaire , Dialyse rénale
20.
J Cardiothorac Surg ; 19(1): 482, 2024 Aug 14.
Article de Anglais | MEDLINE | ID: mdl-39138479

RÉSUMÉ

BACKGROUND: As acute myocardial infarction (AMI) prevalence is increasing because of lifestyle changes, the incidence of atypical symptoms in acute coronary syndrome (ACS) is rising and making misdiagnosing of this fatal event more probable. To better approach the patients with atypical symptoms, we tend to present a rare case of AMI with wrist pain. CASE REPORT: A 41-year-old man presented to the emergency room (ER) with severe both-hand wrist pain and mild epigastric pain. His electrocardiogram (ECG) showed anterior ST-elevation myocardial infarction (MI) with an ejection fraction of 35-40%. His angiography showed severe left anterior descending artery (LAD), and first obtuse marginal artery (OM1) artery stenosis. He underwent Primary percutaneous coronary intervention (PCI). The patient recovered without serious complications and was discharged the day after PCI. DISCUSSION: In this rare case of AMI with wrist pain, it is important to know that atypical symptoms can be present at various levels of symptoms, which prevents future misdiagnosis.


Sujet(s)
Intervention coronarienne percutanée , Humains , Mâle , Adulte , Électrocardiographie , Coronarographie , Poignet , Infarctus du myocarde antérieur/diagnostic , Infarctus du myocarde antérieur/complications , Infarctus du myocarde/diagnostic , Infarctus du myocarde/complications
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