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1.
Neoplasia ; 57: 101060, 2024 Oct 01.
Article in English | MEDLINE | ID: mdl-39357265

ABSTRACT

OBJECTIVE: Understanding the differences of suprasellar papillary and adamantinomatous craniopharyngiomas (PCPs/ACPs) is pivotal for target therapy, surgical strategy or postoperative management. Here, the clinical features, surgical nuances and postoperative hypothalamic outcomes of PCPs were systematically recapitulated. METHODS: 24 PCPs and 52 ACPs underwent initial surgery were retrospectively reviewed. Clinical data, quantified third ventricle (3rd V) occupation and optic chiasm distortion were compared, as well as intra-operative findings, operating notes and prognosis. Moreover, analysis of tumor/3rd V relationship and hypothalamic outcomes were also performed. RESULTS: Tumors were more likely to occupies the 3rd V cavity in PCPs. Chiasm distortion of "compressed forward" was the most common pattern (45.8 %) in PCPs, whereas "stretched forward" pattern accounted the highest (42.5 %) in ACPs. Besides, round-shaped with less calcification, duct-like recess, solid consistency, rare subdiaphragmatic invasion, visible lower stalk and improved postoperative visual outcome were more frequently observed in PCPs. The basal membranes of the tumor epithelium and the reactive gliosis were separated by a layer of collagen fibers in most PCPs, which differs from ACPs in the morphological examination of tumor/3rd V floor interface. In daytime sleepiness and memory difficulty, the PCPs showed significantly better outcomes than the ACPs groups, and PCPs suffered less postoperative weight gain (p < 0.05) than ACPs among adult-onset cases. CONCLUSION: PCPs are different from ACPs regards the clinical features, operative techniques and outcomes. If necessary, PCPs are suggested more amenable to total removal since its less invasiveness to the 3rd V floor and better hypothalamic outcomes.

2.
Diabetes Obes Metab ; 2024 Oct 03.
Article in English | MEDLINE | ID: mdl-39359208

ABSTRACT

AIMS: This study assessed the achievement rates of metabolic risk factor targets and their association with clinical characteristics and comorbidities among individuals with type 2 diabetes (T2D) treated in the primary care in Austria. MATERIALS AND METHODS: A countrywide cross-sectional study, the AUSTRO-PROFIT, was conducted in Austria from 2021 to 2023 on 635 individuals with T2D. Metabolic risk factor targets were defined as the percentage of people achieving low-density lipoprotein cholesterol (LDL-C) <70 mg/dL (or < 55 mg/dL if cardiovascular or microvascular disease was present), glycated haemoglobin (HbA1c) <7% (53 mmol/mol) and blood pressure < 140/90 mmHg. RESULTS: The mean age of the participants was 65.7 ± 11.2 years; the median duration of T2D was 8 (4-14) years; and 58.7% of the participants were male. The percentages of participants achieving LDL-C, HbA1c, blood pressure and all targets were 44%, 53%, 57% and 13%, respectively. Older age, longer T2D duration, cardiovascular disease and microvascular complications were associated with suboptimal achievement of metabolic risk factor targets. CONCLUSIONS: The AUSTRO-PROFIT study revealed notable variations in metabolic targets achievement with respect to clinical characteristics and comorbidities. These findings underscore the importance of establishing national diabetes registries and implementing multifactorial targeted and individualized interventions to further improve the quality of T2D care in primary care settings in Austria.

3.
World J Gastrointest Oncol ; 16(9): 3898-3904, 2024 Sep 15.
Article in English | MEDLINE | ID: mdl-39350991

ABSTRACT

BACKGROUND: Gastric cancer, a prevalent malignancy, poses a severe threat to the health of residents in China. Timely intervention in early stages can extend patients' survival. AIM: To analyze clinical characteristics of patients with early gastric cancer and efficacy and risk of complications associated with endoscopic resection. METHODS: This study included 175 patients with early gastric cancer treated at our hospital, with no restrictions on sex or age. General data, pathological information, and endoscopic biopsy results were obtained. The clinical characteristics of early gastric cancer were analyzed, and endoscopic resection was performed. Postoperative efficacy and incidence of complications were monitored. Statistical analysis was performed using SPSS 26.0 and GraphPad Prism 8.0 software. RESULTS: A total of 175 patients with early gastric cancer were included, with 75.43% (n = 132) males and 24.57% (n = 43) females. 38.29% (n = 67) and 35.43% (n = 62) of patients had a history of smoking and alcohol consumption, respectively. Comorbidities included diabetes (8.57%, n = 15), coronary heart disease (10.29%, n = 18), and hypertension (43.43%, n = 76), which was highly prevalent. A history of abdominal surgery and family history of digestive system cancer accounted for 21.14% and 17.14%, respectively. The most common lesion location was the antral part of the stomach (52.00%, n = 91), followed by the gastric angle, body, and fundus. The pathological types were predominantly high-grade intraepithelial neoplasia (28.00%, n = 49) and well-differentiated adenocarcinoma (26.86%, n = 47), followed by moderately differentiated adenocarcinoma, high-moderately differentiated adenocarcinoma, and moderate-lowly differentiated adenocarcinoma. 89.14% of the patients had intestinal metaplasia and 85.14% had atrophy. After endoscopic resection, re-examination revealed that 13 patients had cancer cells at the tissue margin, with a positive margin rate of 7.43%. Postoperative complications included no cases of gastrointestinal obstruction, but incisional infection (2.86%, n = 5), gastric perforation (1.14%, n = 2), and gastric bleeding (4%, n = 7) were present, with an overall incidence of 8.00%. CONCLUSION: Analysis of the clinical characteristics indicated that early gastric cancer is more prevalent in males with a history of hypertension, with lesions most commonly occurring in the antral region of the stomach. The pathological types are often high-grade intraepithelial neoplasia and well-differentiated adenocarcinoma, with over 85% of patients having comorbid intestinal metaplasia and atrophy. Despite endoscopic resection, a positive margin rate persisted, indicating a probability of residual cancer at the margins. Postoperative complications, such as gastrointestinal obstruction, incisional infection, gastric perforation, and gastric bleeding can occur and require timely symptomatic treatment.

4.
Cureus ; 16(8): e66057, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39224723

ABSTRACT

BACKGROUND:  Following the emergence of the JN.1 SARS-CoV-2 variant, variants with key mutations in the spike protein, such as L455F, F456L, and R346T, were identified. In early January 2024, the KP.2 (JN.1.11.1.2) variant was first identified in clinical samples. Its increasing global prevalence has raised concerns over its transmission and clinical impact. The study investigates KP.2*'s (*indicates KP.2 and all its sub-lineages) spread and clinical severity in Maharashtra. METHODS:  This study involved 5,173 Indian SARS-CoV-2 whole genome sequences with collection dates between November 1, 2023 and June 24, 2024. Lineage analysis of sequences was performed using Nextclade software (version 3.8.0). Telephonic interviews were conducted to confirm the demographic details and obtain clinical information on the KP.2* cases. The obtained data were recorded and analyzed using Microsoft® Excel (Microsoft Corporation, Redmond, WA). RESULTS:  Among the 5,173 sequences analyzed, JN.1* appeared as the predominant lineage (65.96%, 3412/5173), followed by KP.2* (7.83%, 405/5173) and KP.1* (3.27%, 169/5173). In India, KP.2* was first detected on December 2, 2023, in Odisha. The majority of KP.2* sequences were from Maharashtra (248/405, 61.23%), followed by West Bengal (38/405, 9.38%), Gujarat (27/405, 6.67%), and Rajasthan (24/405, 5.93%). Maharashtra reported its first KP.2* sequences on January 24, 2024. The clinical study included 160 cases of the KP.2* variant from Maharashtra. Of these, 95.63% (153/160) presented with mild symptoms, such as fever (108/160, 67.50%), cold (87/160, 54.38%), cough (80/160, 50%), sore throat (44/160, 27.5%), body ache (43/160, 26.88%), and fatigue (42/160, 26.25%). About 33.13% (53/160) of the cases required institutional quarantine or hospitalization, with the rest managed at home. Among those hospitalized, 50.94% (27/53) received conservative treatment, while 49.06% (26/53) needed supplemental oxygen, steroids, or antiviral therapy. Regarding the vaccination status, 89.38% (143/160) of the cases had received at least one dose of the COVID-19 vaccine, whereas 10% (16/160) were unvaccinated, with the majority of the unvaccinated being children aged zero to nine years (7/16, 43.75%). The overall recovery rate for KP.2* cases was 99.38% (159/160), with only 0.62% (1/160) succumbing to the disease. CONCLUSION:  The KP.2 variant has become the dominant SARS-CoV-2 variant in India and Maharashtra. Despite the affected individuals experiencing mild symptoms, studies have shown lower neutralization titers and high infectivity due to FLiRT mutations, suggesting KP.2's potential rise to global dominance.

5.
Front Cell Infect Microbiol ; 14: 1408959, 2024.
Article in English | MEDLINE | ID: mdl-39268489

ABSTRACT

Objectives: To summarize the clinical characteristics, outcomes and identify risk factors of Acinetobacter baumannii (AB) meningitis in children. Methods: This was a single-center, retrospective study. Children hospitalized between January 2016 and December 2021 who were diagnosed with AB meningitis were included. The clinical characteristics and outcomes were reviewed. Risk factors were determined using univariate analyses (chi-square and Mann-Whitney U tests). Results: Seventeen patients were included; 15 cases were secondary to neurosurgery, and two were neonates with primary bacterial meningitis. Common symptoms included fever, convulsions and nervous system abnormalities. Cerebrospinal fluid (CSF) tests typically showed increased white blood cell counts dominated by neutrophils, reduced glucose levels and elevated protein levels. Ten patients were successfully treated (successful treatment [ST] group); seven had failed treatment (failed treatment [FT] group). Univariate analyses revealed that mechanical ventilation, routine white cell counts in the peripheral blood, procalcitonin, protein in the CSF, septic shock and carbapenem-resistant AB (CRAB) differed significantly between the groups. Conclusion: AB meningitis in children has a high mortality rate. FT was associated with mechanical ventilation, septic shock, CRAB, lower peripheral leukocyte counts, higher protein levels in the CSF and procalcitonin. Larger studies are needed to identify independent risk factors for adverse outcomes.


Subject(s)
Acinetobacter Infections , Acinetobacter baumannii , Anti-Bacterial Agents , Meningitis, Bacterial , Tertiary Care Centers , Humans , Female , Male , Risk Factors , China/epidemiology , Retrospective Studies , Child, Preschool , Infant , Acinetobacter Infections/microbiology , Meningitis, Bacterial/microbiology , Meningitis, Bacterial/mortality , Anti-Bacterial Agents/therapeutic use , Child , Treatment Outcome , Infant, Newborn , Carbapenems/therapeutic use , Leukocyte Count , Adolescent
6.
World J Surg Oncol ; 22(1): 243, 2024 Sep 11.
Article in English | MEDLINE | ID: mdl-39256855

ABSTRACT

OBJECTIVE: To investigate the relationship between the expression of androgen receptor (AR) and clinical characteristics in breast cancer. PATIENTS AND METHODS: The clinical records of all 432 patients tested for AR in our institution between January 2020 and May 2023 were reviewed. Clinical characteristics, age, menopausal status, tumor node metastasis (TNM) stage, distant metastasis, pathological complete response (pCR), histopathological features histological grade, estrogen receptor (ER), progesterone receptor, Her-2, Ki-67, and molecular subtype were registered for all patients. RESULTS: About 377 (87.27%) of the 432 patients had AR expression. No significant difference in AR expression was found with age, menopausal status, TNM stage of primary tumor, or pCR. AR was positively and significantly associated with the histological grade, and recurrence. The AR expression was significantly related with molecular subtypes, including ER, PR Her-2, Ki67 and molecular subtype. ER (OR = 10.489, 95%CI: 5.470-21.569), PR (OR = 7.690, 95%CI: 3.974-16.129, Her-2 (OR = 10.489, 95%CI: 2.779-23.490 and tumor recurrence (OR = 0.110, 95%CI: 0.031-0.377 were significant independent risk factors affecting AR expression. CONCLUSIONS: AR expression can serve as a reliable basis for judging the clinical molecular types and poor prognosis for breast cancer. AR may be a novel biomarker and target in AR-positive breast cancer depending on significant difference in AR expression among different molecular types of breast cancer.


Subject(s)
Biomarkers, Tumor , Breast Neoplasms , Neoplasm Recurrence, Local , Receptor, ErbB-2 , Receptors, Androgen , Receptors, Estrogen , Receptors, Progesterone , Humans , Receptors, Androgen/metabolism , Female , Breast Neoplasms/pathology , Breast Neoplasms/metabolism , Middle Aged , Biomarkers, Tumor/metabolism , Prognosis , Adult , Receptors, Progesterone/metabolism , Receptor, ErbB-2/metabolism , Neoplasm Recurrence, Local/metabolism , Neoplasm Recurrence, Local/pathology , Receptors, Estrogen/metabolism , Follow-Up Studies , Aged , Retrospective Studies , Lymphatic Metastasis , Neoplasm Staging , Neoplasm Grading , Aged, 80 and over
7.
Ann Gastroenterol ; 37(5): 618-622, 2024.
Article in English | MEDLINE | ID: mdl-39238792

ABSTRACT

Background: Silent chronic pancreatitis (SCP) is a poorly understood subtype of chronic pancreatitis (CP) in which individuals describe little to no abdominal pain. The risk factors for SCP are unclear, and it is unknown whether there are differences in the clinical outcomes of SCP and painful CP. We set out to investigate the clinical features of SCP and the risk factors associated with this condition. Methods: This was a retrospective cohort study using data from the Penn State Milton S. Hershey Medical Center from 2019-2022. Two patient groups, the SCP cohort (23 patients) and the painful CP cohort (94 patients), were identified from consecutive clinics. Descriptive statistics and bivariate and logistic regression analyses (including variables with a P-value <0.1 on bivariate analysis) were performed to characterize the study cohort and to evaluate for independent associations with SCP. Results: SCP was independently associated with older age (odds ratio [OR] 1.06, 95% confidence interval [CI] 1.01-1.11; P=0.03) and male sex (OR 5.38, 95%CI 1.38-20.96; P=0.02), and inversely associated with current opioid use (OR 0.18, 95%CI 0.03-0.96; P=0.04). There was no association between SCP and current pain medication or diabetes mellitus. Conclusions: Our study adds to the growing body of literature describing SCP as a condition associated with older age and male sex, and inversely associated with opioid use. We found no greater association of diabetes with SCP. Future larger longitudinal studies are needed to gain a better understanding of SCP.

8.
J Neurooncol ; 2024 Sep 14.
Article in English | MEDLINE | ID: mdl-39276177

ABSTRACT

INTRODUCTION: Spinal chondrosarcoma exhibits higher invasiveness and a worse prognosis compared to chondrosarcoma in the extremities. The prognosis and therapeutic plan vary greatly among different pathological subtypes of chondrosarcoma. This study aimed to analyze the differences in clinical characteristics, molecular features, therapeutic effects, and prognostic factors among the subtypes of chondrosarcoma in the spine. METHODS: A retrospective review was conducted on 205 patients with spinal chondrosarcoma. The clinical features and immunohistochemical (IHC) markers were compared among the pathological subtypes of chondrosarcoma grade 1, grade 2, grade 3, mesenchymal chondrosarcoma (MCS), dedifferentiated chondrosarcoma (DCS), and clear cell chondrosarcoma (CCCS). Chondrosarcoma grade 1/2/3 are collectively referred to as conventional chondrosarcoma (CCS) for multivariate survival analysis. Univariate and multivariate analyses were performed to investigate independent prognostic factors for overall survival (OS) and recurrence-free survival (RFS) in patients with spinal chondrosarcoma. Furthermore, independent prognostic factors for OS and RFS were identified in CCS and MCS. RESULTS: MCS patients were younger than the other subtypes. Patients with chondrosarcoma grade 1/2 had better OS than those with chondrosarcoma grade 3, MCS and DCS, while only chondrosarcoma grade 1 patients showed better RFS than chondrosarcoma grade 2/3, MCS and DCS patients. Ki-67 index was higher in chondrosarcoma grade 3, MCS and DCS than chondrosarcoma grade 1/2. The comparison of IHC markers further highlighted the overexpression of P53/MDM2 in MCS and DCS. Gross total resection, including en-bloc and piecemeal resection, significantly improved OS and RFS for CCS patients, while only en-bloc resection significantly improved the prognosis of MCS patients. Chemotherapy appeared to be important for the OS of MCS patients. CONCLUSION: P53/MDM2 pathway was upregulated in MCS and DCS compared to chondrosarcoma grade 1/2. Radical tumor resection is crucial for the treatment of spinal chondrosarcoma, while MCS patients require further comprehensive treatments perioperatively.

9.
Eur J Neurol ; : e16487, 2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39297748

ABSTRACT

BACKGROUND AND PURPOSE: We need more knowledge on clinical presentations, time course, biomarkers, and prognosis in European Lyme neuroborreliosis (LNB). METHODS: A prospective 12-month follow-up of predetermined clinical and laboratory parameters was undertaken in 105 patients with LNB. RESULTS: At presentation, 79% had radiculopathy, 49% had facial palsy, and 13% had solely subjective symptoms (predominately pain). Intrathecally produced Borrelia burgdorferi (Bb) antibodies were demonstrated and cerebrospinal fluid (CSF) CXCL13 was positive in 85% and 82% pretreatment, in 73% and 10% at 6 months, and in 58% and 14% at 12 months, respectively. CSF Bb polymerase chain reaction (PCR) was positive in 40% pretreatment. In four patients who tested negative for Bb antibodies in both serum and CSF, the diagnosis was supported by typical clinical features, pleocytosis, CSF Bb-PCR (n = 1), or CSF CXCL13 (n = 2). The proportion with symptoms influencing daily life was 91% pretreatment, 25% at 10 weeks, 20% at 6 months, and 15% at 12 months. Fatigue was the most common complaint at 12 months. A high burden of symptoms before and after treatment was associated with residual complaints at 12 months, whereas background data, other clinical features, and laboratory features were not. CONCLUSIONS: LNB can present with solely subjective symptoms, especially pain. Many LNB patients have persistent Bb antibodies in serum and CSF. In seronegative LNB, CSF Bb-PCR and CXCL13 may give diagnostic support. CXCL13 may be persistently positive after treatment in some patients. Most of the clinical improvement occurs during the first 10 weeks. High initial clinical score is associated with poorer outcome.

10.
Int J Dermatol ; 2024 Sep 22.
Article in English | MEDLINE | ID: mdl-39306801

ABSTRACT

BACKGROUND: Perianal draining tunnels in hidradenitis suppurativa (HS) and perianal fistulizing inflammatory bowel disease (IBD) present diagnostic and management dilemmas. METHODS: We conducted a retrospective chart review of patients with perianal disease evaluated at Mayo Clinic from January 1, 1998, through July 31, 2021. Patients' demographic and clinical data were extracted, and 28 clinical features were collected. After experimenting with several machine learning techniques, random forests were used to select the 15 most important clinical features to construct the diagnostic prediction model to distinguish perianal HS from fistulizing perianal IBD. RESULTS: A total of 263 patients were included (98 with HS, 100 with IBD, and 65 with both IBD and HS). Patients with HS had a higher mean body mass index, a higher smoking rate, and more commonly showed cutaneous manifestations of tunnels and comedones, while fistulas, abscesses, induration, anal tags, ulcers, and anal fissures were more common in patients with IBD. In addition to having lesions in the perianal area, patients with IBD often had lesions in the buttocks and perineum, while those with HS had additional lesions in the axillae and groin. Among the statistically significant features, the 15 most important were identified by random forest: fistula, tunnel, digestive symptom, knife-cut ulcer, perineum, body mass index, age, axilla, abscess, tags, smoking, groin, genital cutaneous edema, erythema, and bilateral/unilateral. CONCLUSIONS: The results of this study may help differentiate perianal lesions, especially perineal HS and fistulizing perineal IBD, and provide promise for a better therapeutic outcome.

11.
BMC Pulm Med ; 24(1): 461, 2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39300433

ABSTRACT

BACKGROUND: This study aims to review the clinical characteristics, therapeutic response and outcome of idiopathic pulmonary hemosiderosis (IPH), and discover the risk factors for recurrence in children with IPH, which will be helpful for the early diagnosis and reasonable treatment of this disease. METHODS: Children with a diagnosis of IPH were enrolled in the study. Clinical data of the children were collected and analysed. RESULTS: A total of 32 patients with regular follow-up after diagnosis were included in this study. Anaemia, cough and haemoptysis constituted the most common initial symptoms of the disease, and the incidences were 90.6%, 75% and 56.2%, respectively. The mean gap between the onset of symptoms and diagnosis was 5 (0.25-36) months. Most of the children experienced remission (complete and partial remission) over the course of 6 months of treatment, but 19 of the children experienced relapse. The causes of disease recurrence included respiratory tract infection (37.5%), corticosteroid (CS) reduction (18.8%), and irregular medication (6.3%). Interestingly, we found that children with history of allergy (HR 4.255, 1.107-16.356) tended to experience disease recurrence (p = 0.01). CONCLUSIONS: Cough and anaemia are the most common symptoms in children with IPH. The recurrence rate of this disease is high, and respiratory tract infection is the most common cause of its recurrence. High-dose CS impluse therapy cannot reduce the recurrence rate of the disease. Allergic history was an import factor associated with disease recurrence. TRIAL REGISTRATION: This study is a retrospective and observational study, which does not involve human specimens or clinical intervention. Therefore, clinical trial registration is not required, and there is no clinical trial number. However, the study was approved by the Institutional Review Board/Ethics Committee affiliated with West China Second University Hospital, Sichuan University (Ethics review number 2022074).


Subject(s)
Cough , Hemosiderosis, Pulmonary , Hemosiderosis , Lung Diseases , Recurrence , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Adrenal Cortex Hormones/therapeutic use , Anemia/etiology , China/epidemiology , Cough/etiology , Hemoptysis/etiology , Hemosiderosis/complications , Respiratory Tract Infections/complications , Respiratory Tract Infections/epidemiology , Retrospective Studies , Risk Factors
12.
Article in English | MEDLINE | ID: mdl-39285515

ABSTRACT

BACKGROUND AND AIM: Population-based studies comparing clinical characteristics and survival disparities between patients with small bowel adenocarcinoma (SBA) and small bowel neuroendocrine tumors (SBNETs) in the United States are limited. METHODS: Data for patients with SBA or SBNETs, obtained from the Surveillance, Epidemiology, and End Results database for the years between 2000 and 2018 were analyzed. RESULTS: Between 2000 and 2018, the age-adjusted incidence of SBA experienced a marginal increase whereas SBNETs demonstrated a significant increase, emerging as the predominant subtype of small bowel cancer (SBC). Diagnoses peaked at ages 65-69 years for SBA and 60-64 years for SBNETs, with the latter exhibiting a heightened age-specific incidence and maintaining equilibrium in gender distribution. Clinicopathologic disparities revealed SBA's duodenal predilection, larger tumor size, and advanced stages, contrasting with SBNETs' ileal predilection, early-stage presentation, and superior outcomes. SBNETs patients underwent surgery more frequently but received less chemotherapy and radiation than SBA patients. Factors intricately correlated with a diagnosis of SBNETs included female gender, White race, advanced age, marital status, recent diagnoses, superior tumor differentiation, smaller size, distal location, and early-stage presentation. Survival analysis unveiled a remarkable 79% reduction in the mortality risk for SBNETs compared with SBA. Subgroup analysis further confirmed the consistently favorable survival advantages of SBNETs, highlighting the clinical relevance of histological classification in prognostication. CONCLUSION: Compared with SBA, SBNETs exhibited distinctive clinicopathological features characterized by a higher inclination toward low-grade and early-stage manifestations, thereby contributing to superior survival outcomes.

13.
Mol Biol Rep ; 51(1): 985, 2024 Sep 15.
Article in English | MEDLINE | ID: mdl-39278886

ABSTRACT

OBJECTIVE: To evaluate the frequency and prognostic significance of DTA (DNMT3A、TET2、ASXL1) gene mutation and co-occurring mutations in patients with myelodysplastic syndrome (MDS). METHODS: The clinical data of 102 newly diagnosed MDS patients who accepted Next Generation Sequencing (NGS) was retrospectively analyzed. According to whether the patients had DTA gene mutation, the patients were divided into DTA mutated (DTA-mut) group and wild type (DTA-wt) group, and the relationship between gene mutation and clinical characteristics and prognosis was analyzed. RESULTS: Among the 102 MDS patients, 96% (98/102) presented with mutation, while the mean number of mutations was 3.04 mutations/patient. DTA-mut was detected in 56.9% (58/102) patients. The most frequent co-mutated genes in DTA-mut group were SF3B1 (25.8%), RUNX1 (24.1%), U2AF1 (18.9%), SRSF2, EZH2, SETBP1 (17.2%), STAG2 (15.5%), IDH2 (12.1%) and BCOR, CBL (10.3%). The two groups showed no significant differences in ages, blood parameters, bone marrow blasts, WHO 2022 classification, IPSS-R risk category and rate of conversion to leukemia. Compared with the DTA-wt group, the mutation frequency of RUNX1 was higher (P = 0.02), while mutation frequency of TP53 was lower (P = 0.001) and the mutation frequency of ≥ 3 co-mutated genes was higher in DTA-mut group (P = 0.00). Survival analysis showed that the overall survivals (OS) of DTA-mut patients was significantly inferior to that of DTA-wt patients (P = 0.0332). According to IPSS-R classification, a statistically significant difference in OS was only observed in higher risk (IPSS-R > 3.5) group (P = 0.0058). In the context of DTA mutation, the OS of patients with RUNX1 mutation was shorter than that of patients without RUNX1 mutation significantly (P = 0.0074). The OS of patients with SF3B1 mutation was longer than that of patients without SF3B1 mutation, but there was no statistical difference (P = 0.0827). DTA mutations were not independent prognostic factors when DTA and co-mutated genes with frequency > 10% were considered in Cox regression model (P = 0.329). However, multivariate analysis confirmed an independently adverse prognosis of RUNX1 co-mutation (P = 0.042, HR = 2.426, 95% CI:1.031-5.711) in DTA-mut cohort. Moreover, our multivariable analysis suggests that SRSF2-mut was an independent poor prognostic factor for all MDS patients (P = 0.047), but lost significance (P = 0.103) for DTA-mut patients. CONCLUSIONS: DTA mutations are frequently observed in patients with MDS, often accompanied by genes involved in RNA splicing and transcription factors like SF3B1 and RUNX1. DTA and concomitant mutations affect prognosis in MDS patients and RUNX1 was identified as an independent poor prognostic factor in patients with DTA mutations.


Subject(s)
DNA (Cytosine-5-)-Methyltransferases , DNA Methyltransferase 3A , DNA-Binding Proteins , Dioxygenases , Mutation , Myelodysplastic Syndromes , Proto-Oncogene Proteins , Repressor Proteins , Humans , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/mortality , Male , Female , Mutation/genetics , Middle Aged , Prognosis , Aged , Adult , Proto-Oncogene Proteins/genetics , DNA (Cytosine-5-)-Methyltransferases/genetics , Repressor Proteins/genetics , DNA-Binding Proteins/genetics , Retrospective Studies , Aged, 80 and over , High-Throughput Nucleotide Sequencing/methods , Adolescent , Young Adult
14.
Biomedicines ; 12(9)2024 Sep 21.
Article in English | MEDLINE | ID: mdl-39335658

ABSTRACT

BACKGROUND: Rheumatoid arthritis (RA) patients are at heightened risk of Coronavirus Disease-19 (COVID-19) complications due to immune dysregulation, chronic inflammation, and treatment with immunosuppressive therapies. This study aims to characterize the clinical and laboratory parameters of RA patients diagnosed with COVID-19, identify predictive risk factors for severe forms of this infection for RA patients, and determine if any RA immunosuppressive therapy is associated with worse COVID-19 outcomes. METHODS: A retrospective observational case-control study included 86 cases (43 diagnosed with RA and 43 cases without any inflammatory or autoimmune disease) that suffered from SARS-CoV-2 in two Romanian hospitals between March 2020 and February 2024. Data on demographics, RA disease characteristics, COVID-19 severity, treatment regimens, and outcomes were analyzed. RESULTS: RA patients exhibited a distinct symptom profile compared to non-RA controls, with higher incidences of neurological, musculoskeletal, and gastrointestinal symptoms, while the control group showed more respiratory and systemic manifestations. Severe COVID-19 is correlated with age and laboratory markers like erythrocyte sedimentation rate (ESR), leucocytes, neutrophils, neutrophil-to-lymphocyte ratio (NLR), aspartate aminotransferase (AST), serum creatinine, and urea. Additionally, RA treatments, particularly rituximab (RTX), were associated with more severe COVID-19 outcomes (but with no statistical significance), potentially due to the advanced disease stage and comorbidities in these patients. Post-infection, a significant number of RA patients experienced disease flares, necessitating adjustments in their treatment regimens. CONCLUSIONS: This study underscores the complex interplay between RA and COVID-19, highlighting significant clinical heterogeneity and the need for tailored management strategies. Limitations include sample size constraints, possible selection, and information bias, as well as the lack of adjustments for potential confounding variables that hinder the ability to formulate definitive conclusions. Future research plans to expand the research group size and further elucidate these relationships.

15.
Innov Clin Neurosci ; 21(7-9): 10-14, 2024.
Article in English | MEDLINE | ID: mdl-39329031

ABSTRACT

Objective: Intellectual disability (ID) is considered one of the most common human disorders characterized by significant deficits in cognition and functional and adaptive skills. The aims of this study were to describe the demographic and clinical features of a group of Moroccan individuals with ID living in the Tangier-Tetouan region. Design: This was a retro-prospective and descriptive exploratory monocentric study realized between November 2020 and August 2023. A total of 109 patients with ID were included. They were selected at four mental health centers in the Tangier-Tetouan region. Our data were treated and analyzed using the IBM SPSS version 26. Results: A male predominance of patients with ID was observed in our series (54.4% male vs. 42.6% female). The male-to-female ratio was 1.34. The mean±standard deviation (SD) age of our patients was 11.75±4.87 years, ranging from 1 to 35 years. The mean ages of mothers and fathers at the births of their children with ID were 28.36 and 35.6 years, respectively. Many co-occurring medical conditions were noted in our data (speech delay: 20.5%, concentration problems: 15.1%, hyperactivity: 11.1%, ambulation difficulties: 8.8%, aggressiveness: 8%, vision problems: 6.3%, epileptic seizures: 4%). The consanguinity rate was 26.9 percent. Conclusion: ID associated with genetic causes was significantly correlated with the consanguinity rate in the Moroccan population.

16.
BMC Infect Dis ; 24(1): 936, 2024 Sep 09.
Article in English | MEDLINE | ID: mdl-39251906

ABSTRACT

BACKGROUND: Human adenovirus (HAdV) is an important pathogen causing acute respiratory infection (ARI) in children. Many countries, including China, have experienced sporadic or outbreaks related to HAdV-4, and death cases were reported. However, there is little research on HAdV-4 and the epidemic situation of HAdV-4 in China is little known. This study was designed to comprehend the prevalence and genetic characteristics of HAdV-4 in ARI children in China. METHODS: Respiratory tract samples from ARI children hospitalized in six hospitals of Northern and Southern China from 2017 to 2020 were collected for HAdV detection and typing. Clinical information was collected from HAdV-4 positive patients for clinical characteristics and epidemiological analysis. The main capsid proteins and the whole genome sequences were amplified and sequenced for bioinformatics analysis. RESULTS: There were 2847 ARI children enrolled, and 156 (5.48%) HAdV positive samples were detected. Eleven HAdV-4 positive samples were identified, accounting for 0.39% of the total samples and 7.05% of the HAdV positive samples. The main manifestations were fever and cough. Two children had conjunctivitis. Two children were diagnosed with severe pneumonia and developed respiratory failure. One of them developed hemophagocytic syndrome and checked in pediatric intensive care unit (PICU). This child had ventricular septal defect. All the children recovered. The isolated strains of HAdV-4 obtained in this study and the reference strains from China located in the same phylogenetic branch (HAdV-4a), while the prototype strain and vaccine strains formed another branch (HAdV-4p). Upon comparison with the prototype strain, there were a few amino acid mutations existing in three major capsid proteins. According to recombination analysis, no new recombination was found. CONCLUSIONS: The detection rate of HAdV-4 in children hospitalized with ARI was 0.39% in the total samples and 7.05% of all HAdV positive samples. HAdV-4 isolates obtained in this study and other reference strains from China belonged to the HAdV-4a subtype. Our data provided reference for the monitoring, prevention and control of HAdV-4, as well as the research and development of vaccines and drugs.


Subject(s)
Adenovirus Infections, Human , Adenoviruses, Human , Phylogeny , Respiratory Tract Infections , Humans , China/epidemiology , Adenoviruses, Human/genetics , Adenoviruses, Human/isolation & purification , Adenoviruses, Human/classification , Respiratory Tract Infections/virology , Respiratory Tract Infections/epidemiology , Adenovirus Infections, Human/epidemiology , Adenovirus Infections, Human/virology , Male , Child, Preschool , Female , Prospective Studies , Infant , Child , Capsid Proteins/genetics , Prevalence
17.
J Fungi (Basel) ; 10(9)2024 Sep 01.
Article in English | MEDLINE | ID: mdl-39330384

ABSTRACT

Candida parapsilosis is a common cause of non-albicans Candida species causing candidemia, particularly invasive candidiasis. This study aimed to characterize candidemia due to the C. parapsilosis complex with serial episodes, including clinical and mycological features. METHODS: Blood isolates of the C. parapsilosis complex were collected from February 2019 to January 2023 at a tertiary Korean hospital. Species identification was performed using Vitek 2 or matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, and antifungal susceptibility testing was performed using the Sensititre YeastOne® system. Clinical information was collected, and characteristics were analyzed according to single or serial isolates. RESULTS: A total of 586 blood isolates of the C. parapsilosis complex were recovered from 68 candidemia patients during the study period. Of them, only the first isolate per patient was investigated. The only two isolates were resistant to fluconazole and no isolate was resistant to echinocandins, amphotericin B, or 5-FC. A single episode of candidemia occurred in 35 patients, while serial episodes occurred in 33 patients. Underlying liver diseases, use of vasopressors, ICU admission, severe sepsis, and CVC use were more frequent in patients with serial episodes. There was no significant difference in the median MIC values of antifungal agents or the use of azoles or amphotericin B between single and serial episodes. However, patients with serial episodes more frequently received echinocandin therapy. Overall, there was no significant difference in the 30-day mortality rate between patients with single and serial episodes. CONCLUSION: Our data indicate that several factors related to the underlying conditions of the patients are associated with C. parapsilosis candidemia with serial episodes, rather than the characteristics of Candida itself.

18.
BMC Infect Dis ; 24(1): 1055, 2024 Sep 27.
Article in English | MEDLINE | ID: mdl-39333929

ABSTRACT

The COVID-19 pandemic, caused by SARS-CoV-2, led to 622,119,701 reported cases and 6,546,118 deaths. Most studies on COVID-19 patients in hospitals are from high-income countries, lacking data for developing countries such as Ethiopia.This study assesses clinical features, demographics, and risk factors for in-hospital mortality in Hawassa, Ethiopia. The research cohort comprises 804 cases exhibiting clinical diagnoses and/or radiological findings and indicative of symptoms consistent with COVID-19 at Hawassa University Comprehensive Specialized Hospital from September 24, 2020, to November 26, 2021. In-hospital mortality rate was predicted using Cox regression. The median age was 45 years, with males making up 64.1% of the population. 173 (21.5%) fatalities occurred, with 125 (72.3%) among males. Male patients had higher mortality rates than females. Severe and critical cases were 24% and 21%. 49.1% had at least one comorbidity, with 12.6% having multiple. Common comorbidities were diabetes (15.9%) and hypertension (15.2%). The Cox regression in Ethiopian COVID-19 patients found that factors like gender, advanced age group, disease severity, symptoms upon admission, shortness of breath, sore throat, body weakness, hypertension, diabetes, multiple comorbidities, and prior health facility visits increased the risk of COVID-19 death, similar to high-income nations. However, in Ethiopia, COVID-19 patients were young and economically active. Patients with at least one symptom had reduced death risk. As a conclusion, COVID-19 in Ethiopia mainly affected the younger demographic, particularly economically active individuals. Early detection can reduce the risk of mortality. Prompt medical attention is essential, especially for individuals with comorbidities. Further research needed on diabetes and hypertension management to reduce mortality risk. Risk factors identified at admission play a crucial role in guiding clinical decisions for intensive monitoring and treatment. Broader risk indicators help prioritize patients for allocation of hospital resources, especially in regions with limited medical facilities. Government's focus on timely testing and strict adherence to regulations crucial for reducing economic impact.


Subject(s)
COVID-19 , Hospitalization , SARS-CoV-2 , Humans , COVID-19/mortality , COVID-19/epidemiology , Male , Ethiopia/epidemiology , Female , Middle Aged , Adult , Risk Factors , Cohort Studies , Hospitalization/statistics & numerical data , Aged , Hospital Mortality , Young Adult , Comorbidity , Adolescent , Aged, 80 and over , Child
19.
Ann Med ; 56(1): 2396570, 2024 Dec.
Article in English | MEDLINE | ID: mdl-39221718

ABSTRACT

AIM: This review aims to summarize the epidemiology, etiology, pathogenesis, clinical manifestations, and current diagnostic and therapeutic approaches for mucormycosis. The goal is to improve understanding of mucormycosis and promote early diagnosis and treatment to reduce mortality. METHODS: A comprehensive literature review was conducted, focusing on recent studies and data on mucormycosis. The review includes an analysis of the disease's epidemiology, etiology, and pathogenesis, as well as current diagnostic techniques and therapeutic strategies. RESULTS: Mucormycosis is increasingly prevalent due to the growing immunocompromised population, the COVID-19 pandemic, and advances in detection methods. The pathogenesis is closely associated with the host immune status, serum-free iron levels, and the virulence of Mucorales. However, the absence of typical clinical manifestations complicates diagnosis, leading to missed or delayed diagnoses and higher mortality. CONCLUSION: An enhanced understanding of the epidemiology, pathogenesis, and clinical presentation of mucormycosis, along with the adoption of improved diagnostic and therapeutic approaches, is essential for reducing mortality rates associated with this opportunistic fungal infection. Early diagnosis and prompt treatment are critical to improving patient outcomes.


The incidence of mucormycosis has increased following the COVID-19 pandemic.The presence of the halo sign and reverse halo sign may indicate the onset of pulmonary mucormycosis.Early implementation of molecular diagnostic methods, such as mNGS and qPCR, may improve the early diagnosis rate of mucormycosis.Isavuconazole and posaconazole can also be considered as first-line treatments for the initial management of mucormycosis.


Subject(s)
Antifungal Agents , COVID-19 , Mucormycosis , Mucormycosis/epidemiology , Mucormycosis/therapy , Mucormycosis/diagnosis , Humans , COVID-19/epidemiology , COVID-19/therapy , Antifungal Agents/therapeutic use , Mucorales/pathogenicity , Mucorales/isolation & purification , Immunocompromised Host , SARS-CoV-2 , Opportunistic Infections/epidemiology , Opportunistic Infections/microbiology , Opportunistic Infections/diagnosis , Opportunistic Infections/therapy
20.
Cancer Control ; 31: 10732748241278921, 2024.
Article in English | MEDLINE | ID: mdl-39222361

ABSTRACT

OBJECTIVE: This study was conducted to investigate the imaging information, laboratory data, and clinical characteristics of duodenal papillary malignancies, aiming to contribute to the early diagnosis of these diseases. METHODS: The clinical characteristics, laboratory data, and computed tomography (CT) findings of 17 patients with adenoma of the major duodenal papilla (the adenoma group) and 58 patients with cancer of the major duodenal papilla (the cancer group) were retrospectively analyzed. The measurement data were analyzed using t test and expressed as mean ± standard deviation. The counting data were analyzed using the χ2 test and expressed in n (%). Pearson correlation analysis was also conducted, and a scatter plot was drawn. RESULTS: There were significant differences in the diameter, shape, margin, and target sign of the major duodenal papilla, pancreatic duct diameter, common bile duct diameter, enhancement uniformity, fever, direct bilirubin, total bilirubin, carcinoembryonic antigen, carbohydrate antigen 19-9, and jaundice between the adenoma group and the cancer group (P < .01). The enhancement magnitude of the duodenal papilla was correlated with the lesion size, and the venous phase CT value of the enhanced scan was correlated with the duodenal papilla diameter (P < .05). Additionally, 12 patients in the cancer group suffered from malignant transformation of adenomas. CONCLUSION: Firstly, CT is of high value in the diagnosis of duodenal papilla diseases. Secondly, the enhancement magnitude of the duodenal papilla is correlated with the lesion size. Thirdly, patients with duodenal papilla adenomas have a risk of progression into adenocarcinoma, thereby requiring close follow-up.


Subject(s)
Duodenal Neoplasms , Tomography, X-Ray Computed , Humans , Male , Female , Retrospective Studies , Middle Aged , Tomography, X-Ray Computed/methods , Duodenal Neoplasms/diagnostic imaging , Duodenal Neoplasms/blood , Duodenal Neoplasms/pathology , Aged , Adult , Ampulla of Vater/pathology , Ampulla of Vater/diagnostic imaging , Adenoma/diagnostic imaging , Adenoma/blood , Adenoma/pathology
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