Course Of Disease Research Articles

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (LIS1/PAFAH1B1, DCX, DYNC1H1, TUBA1A, TUBG1) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports. All but two patients were diagnosed with epilepsy. Median age at seizure onset was 6 months (range: 2.1-42.0), starting with epileptic spasms in 70%. Standard treatment protocols with hormonal therapy (ACTH or corticosteroids) and/or vigabatrin were the most effective approach for epileptic spasms, leading to seizure control in 47%. Seizures later in the disease course were most effectively treated with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, resulting in seizure freedom in 20%. Regarding psychomotor development, lissencephaly patients presenting without epileptic spasms were significantly more likely to reach various developmental milestones compared to patients with spasms. Classic lissencephaly is highly associated with drug-resistant epilepsy starting with epileptic spasms in most patients. The standard treatment protocols for infantile epileptic spasms syndrome lead to freedom from seizures in around half of the patients. Due to the association of epileptic spasms with an unfavorable course of psychomotor development, early and reliable diagnosis and treatment of spasms should be pursued. For epilepsies occurring later in childhood, ASM with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, appears to be most effective.

A small secret of big rheumatology

Current recommendations for RA treatment determine the need to reduce the dose and duration of glucocorticoid(GC) use. This is due to the wide spectrum and high frequency (up to 100%) of serious adverse events (AE) during GC treatment. However, in real practice GCs in RA are used very often (in Russia, Western Europe and the USA they are used in about 50% of patients), and often in long-term courses. This is explained by the fact that the combination of disease-modifying antirheumatic drugs (DMARDs), including biologics (bDMARDs) and Janus kinase inhibitors (JAK), with GCs allows to achieve faster improvement of patients’ condition and therefore is very “convenient” for many patients and physicians.However, it is very difficult to ensure dose reduction and (especially!) complete discontinuation of GC administration afterwards. Clinical and observational studies show that 30–40% of patients manage to discontinue the use of GCs during treatment with bDMARDs and JAK. In addition, discontinuation of GCs may significantly increase the risk of RA flare, even with complex pathogenetic therapy.Nevertheless, prolonged use of GCs, including low doses (less than 7.5 mg/day of prednisolone) should be considered as an indicator of the severity of the disease course and inadequacy of the current therapy. Therefore, we should strive for personalization of RA therapy, selection of DMARDs based on the assessment of the disease phenotype and predictors of response to treatment with different drugs, achieving the main goal of therapy – remission/low disease activity and achievement of acceptable quality of life, without the use of GCs.

Discordance of reported multiple sclerosis clinical course amongst patients and providers

BackgroundEffective communication between providers and people with multiple sclerosis (pwMS) is essential. ObjectivesTo determine the level of concordance between provider- and pwMS-reported disease course. MethodsPatient encounters from December 2015 through April 2020 were retrospectively reviewed for MS disease course self-reported by the patient and separately documented by the provider at each visit. The proportion of agreement was compared across disease course Cohen's kappa, and subsequently stratified by sex, race, and level education. ResultsAcross 1335 encounters, the proportion of disease course agreement varied. Compared with RRMS, there was statistically significant difference across all other disease courses. Overall concordance between providers and pwMS was 64 % with a Cohen's kappa of 0.312. Concordance was higher amongst female patients, black patients, and patients with a higher level of education (>14 years). ConclusionOverall agreement on MS disease course amongst patients and providers was suboptimal. A concerted effort to understand these discrepancies is needed.

Clinical characteristics and long-term disease course in patients with Crohn's disease as diagnosed by video capsule endoscopy: a multicenter retrospective matched case-control study.

Video capsule endoscopy is rarely used to diagnose Crohn's disease in patients with negative ileocolonoscopy or cross-sectional image findings. We evaluated clinical characteristics and long-term outcomes of these rare cases. This multicenter study included patients with Crohn's disease from 3 tertiary hospitals from January 2007 to October 2022. Patients with normal findings on ileocolonoscopy and computed tomography (CT)/magnetic resonance (MR) enterography but had ulcerations at the small bowel detected by video capsule endoscopy were included. The controls were patients with abnormal findings on endoscopy or CT/MR enterography. Controls were case-matched in a ratio of 3:1 for sex, calendar year of diagnosis, and age at diagnosis. Among 3,752 patients, 24 (0.6%) were diagnosed with Crohn's disease using video capsule endoscopy findings. The disease location (P< 0.001) and behavior at diagnosis (P= 0.013) of the cases significantly differed from that of controls. The perianal fistula modifier (25.0% vs. 33.3%, P= 0.446) did not differ significantly between the 2 groups. Initial disease activity and C-reactive protein and fecal calprotectin levels were significantly lower in cases versus controls. The median Lewis score was 838 (interquartile range, 393-1,803). Over 10 years of follow-up, the cases showed significantly lower cumulative risk of complicated behavior, biologics use, Crohn's disease-related hospitalization, and surgeries (log-rank test P< 0.05). Patients with Crohn's disease whose lesions were observed only by video capsule endoscopy were rare, and exhibit different clinical characteristics and a more favorable long-term disease course compared to those who were conventionally diagnosed.

Case identification and healthcare utilization in the years prior to a first mania diagnosis

BackgroundThere is limited evaluation of approaches to identify patients with new onset bipolar affective disorder (BPAD) when using administrative datasets. MethodsUsing the Massachusetts All-Payer Claims Database (APCD), we identified individuals with a 2016 diagnosis of bipolar disorder with mania and examined patterns of psychiatric and medical care over the preceding 48 months. ResultsAmong 4806 individuals aged 15–35 years with a 2016 BPAD with mania diagnosis, 3066 had 48 months of historical APCD data, and of those, 75 % involved information from ≥2 payors. After excluding individuals with historical BPAD or mania diagnoses, there were 583 individuals whose 2016 BPAD with mania diagnosis appeared to be new (i.e., 34 new diagnoses per 100,000 individuals aged 15–35 years). Most individuals received medical care, e.g., 98 % had outpatient visits, 76 % had Emergency Department (ED) visits, and 50 % had mental health-related ED visits during the 48 months prior to their first mania diagnosis. One-third (37.2 %) had a depressive episode before their initial BPAD with mania diagnosis. LimitationsStudy was conducted in one state among insured individuals. We used administrative data, which permits evaluation of large populations but lacks rigorous, well-validated claims-based definitions for BPAD. There could be diagnostic uncertainty during illness course, and clinicians may differ in their diagnostic thresholds. ConclusionsCareful examination of multiple years of patient history spanning all payors is essential for identifying new onset BPAD diagnoses presenting with mania, which in turn is critical to estimating population rates of new disease and understanding the early course of disease.

Innovative Research on the Integration of Traditional Chinese Medicine and Artificial Intelligence for the Treatment of Herpes Zoster

Herpes zoster is a skin disease caused by the varicella-zoster virus (VZV), primarily manifesting as painful skin rashes in localized areas. Traditional Chinese medicine has a long history of treating herpes zoster, and the integration of modern artificial intelligence (AI) technologies holds promise for further enhancing treatment efficacy. This study aims to construct an AI-based traditional Chinese medicine treatment plan by analyzing large-scale clinical data and traditional medical literature to establish individualized diagnostic models. The experimental results demonstrate that this method effectively shortens the disease course and reduces the incidence of complications. Additionally, the study reveals the mechanisms of action of various components of traditional Chinese medicine in treatment, providing a basis for further optimization of treatment plans. This innovative integration approach not only improves treatment precision but also offers a new paradigm for combined traditional and Western medicine treatment. This paper not only showcases the potential of AI in the field of traditional Chinese medicine but also provides new insights into the treatment of herpes zoster.

Predictors of the presence of radiological abnormalities 6 months after severe COVID-19 pneumonia

BackgroundSARS-CoV-2 pneumonia can cause significant long-term radiological changes, even resembling pulmonary fibrosis. However, the risk factors for these long-term effects are unknown. This study aims to assess radiological abnormalities and their possible risk factors six months after hospital discharge due to COVID-19 pneumonia.Material and methodsThis cross-sectional study in a tertiary hospital included adults admitted for COVID-19 pneumonia from March 2020 to February 2021, who underwent high-resolution computed tomography (HRCT) scans of the chest six months after hospital discharge. The primary outcome was radiological abnormalities on HRCT, while the main explanatory variables were drawn from the patient’s medical history along with the disease course, analytical indicators, and the treatment received during admission.ResultsThe 189 included patients had a mean age of 61.5 years; 70.9% were male, and hypertension was the main comorbidity (45%). About two-thirds (67.2%) presented acute respiratory distress syndrome (ARDS). Most (97.9%) received systemic corticosteroid therapy, and 81% presented pathological findings on HRCT, most commonly ground glass (63.5%), followed by bronchial dilatation (36%) and subpleural bands (25.4%). The multivariable analysis showed that age was the main risk factor, associated with most radiological changes. Other factors were the duration of corticosteroid therapy for ground glass (adjusted odds ratio [aOR] 1.020) as well as a longer stay in the intensive care unit (ICU) (aOR 1.290) and high levels of IL-6 for bronchial dilation (aOR 1.002). ConclusionRadiological involvement of the lungs six months after COVID-19 pneumonia is frequent, especially ground glass. Elderly patients with prolonged ICU admission and a significant inflammatory response measured by IL-6 are more likely to present worse radiological evolution and are candidates for radiological follow-up after COVID-19 pneumonia.

Nested Randomized Controlled Trials in Large Databases: An Opportunity for Inflammatory Bowel Disease?

Although randomized controlled trials (RCTs) are the gold standard for investigating the efficacy and safety of interventions, they present major operational challenges due to their complexity, time-consuming nature, and high costs. To address some of these difficulties, RCTs nested in cohorts (RCTsNC) have been developed to enable patient enrolment and randomization from existing databases. RCTsNC is an emerging trial design, which has been successfully utilized across several medical disciplines but not inflammatory bowel disease (IBD). This narrative review outlines the principles of RCTsNC and discusses the numerous advantages it affords for IBD, including harnessing longer-term longitudinal data for safety and efficacy assessment, and enhanced recruitment and follow up processes. Leveraging pre-existing cohorts and their organizational structures improves patient acceptance and is more economical compared to traditional randomized trials. Observational data for IBD, derived from research (cohort and case-control studies) and non-research sources (electronic health records and registries), provides access to comprehensive records for a large number of IBD patients. It permits researchers to address knowledge gaps in IBD where traditional RCTs have had a limited role, such as specific sub-populations typically excluded from pivotal trials, or assessing the effect of environmental exposures on disease course. This review also details caveats of this study design that include the risk of selection bias and constraints related to comparisons with placebo. In conclusion, RCTsNC offers a promising opportunity IBD research given the challenges of the current IBD RCT landscape.

Multiple sclerosis in Somali Americans: Nature or nurture?

BackgroundDifferences in the MS course between White and Black populations is well accepted. The existence of a large Somali immigrant population in Minnesota facilitates a study of MS characteristics in this immigrant native African population. The objective of this study was to compare Somali American (SA), African American (AA), and White American (WA) persons with MS (pwMS) regarding clinical features and disease modifying therapy (DMT) use. MethodsThis single center (Mayo Clinic) geographically-restricted retrospective cohort study (residing within 250 miles of Rochester, MN, USA) included participants seen before May 2023. Age at immigration to the USA; age at MS onset; DMT use/type; MS phase/phenotype; age at progressive MS (PMS) onset; and proportion with severe MS (expanded disability status scale-EDSS ≥6) were examined. Results18 SApwMS, 92 AApwMS, and 94 WApwMS were included. Of the 15 SApwMS not born in USA, 3/15 immigrated pre-puberty, 3/15 peri‑puberty, 8/15 post-puberty, and 1/15 at an unknown date. SApwMS were younger at MS onset (median years, interquartile range (IQR)=25, 22–33 vs. AApwMS: 31, 25–38; p = 0.049 vs. WApwMS: 35, 27–41; p = 0.022). DMT use frequencies were 13/19 SApwMS, 69/92 AApwMS, 80/94 WApwMS (p > 0.05). SApwMS were treated with DMT earlier than AApwMS (HR 2.16, p = 0.012) and WApwMS (HR 1.86, p = 0.041). SApwMS were less commonly treated with natalizumab (SApwMS 0 %, AApwMS 13 %, WApwMS 25 %; p = 0.035) and anti-CD20 therapies (SApwMS 23 %, AApwMS 23 %, WApwMS 48 %; p = 0.005). PMS occurred in 3/19 SApwMS, 28/92 AApwMS and 29/94 WApwMS (p > 0.05). Age of PMS onset in SApwMS (47 years, 34–57) was similar to WApwMS (47 years, 31–71; p > 0.05) but older than AApwMS (41 years, 18–7; p = 0.008). ConclusionsSApwMS that recently immigrated to the USA have similar disease course to WApwMS, and better than AApwMS from the same geographical region.

Anti-RGS8 paraneoplastic cerebellar ataxia is preferentially associated with a particular subtype of Hodgkin's lymphoma.

Ataxia with anti-regulator of G-protein signaling 8 autoantibodies (RGS8-Abs) is an autoimmune disease recently described in four patients. The present study aimed to identify other patients with RGS8-Abs, describe their clinical features, including the link between RGS8-related autoimmune cerebellar ataxia (ACA) and cancer. Patients with RGS8-Abs were identified retrospectively in the biological collections of the French Reference Center for Paraneoplastic Neurological Syndrome and the University of California San Francisco Center for Encephalitis and Meningitis. Clinical data were collected, and cerebrospinal fluid, serum, and tumor pathological samples were retrieved to characterize the autoantibodies and the associated malignancies. Only three patients with RGS8-Abs were identified. All of them presented with a pure cerebellar ataxia of mild to severe course, unresponsive to current immunotherapy regimens for ACA. Two patients presented with a Hodgkin lymphoma of the rare specific subtype called nodular lymphocyte-predominant Hodgkin lymphoma, with very mild extension. Autoantibodies detected in all patients enriched the same epitope on the RGS8 protein, which is an intracellular protein physiologically expressed in Purkinje cells but also ectopically expressed specifically in lymphoma cells of patients with RGS8-related ACA. The present results and those of the four cases previously described suggest that RGS8-Abs define a new paraneoplastic neurological syndrome of extreme rarity found mostly in middle-aged males that associates pure cerebellar ataxia and a particular lymphoma specifically expressing the RGS8 antigen. As in other paraneoplastic ACA with intracellular antigen, the disease course is severe, and patients tend to exhibit a poor response to immune therapy.

Situation-precise medicine : Ethical comments on the debate around precision medicine

The label "precision medicine" appears to have the status of a "moral high-value word". Moral high-value words possess an ambivalent dialectic of light and dark. On the one hand, precision medicine promises an individual diagnosis and treatment of severe diseases focussed on the ill person with reduction of undesired side effects as far as possible. On the other hand, the label "precision medicine" rapidly leads to a gradual devaluation of everything that only seems "not precise", "vague" or simply "generally just unspecific". Precision medicine therefore nearly automatically promotes their prioritization and preference in the distribution of scarce resources, which is simultaneously associated with a deprioritization or inferiority in the distribution of scarce resources for the "not so valuable". As a further communicative weak point the limited understanding of "precision" catches the eye: precision medicine is often associated with technological high-performance medicine, which often reacts to a clear (severe) disease picture; however, many courses of diseases are still in an unclear stage or in a situation where there are clearly no (longer) perspectives for recovery and curative measures are no longer medically indicated. This article takes up on three ethical aspects, which should play an essential role in the debate on precision medicine: the uppermost criterion in the distribution of scarce resources, the relevance for patients as the uppermost aim of medical treatment and that of the patient-relevant inner understanding of the quality of life or well-being of patients.

Levodopa-carbidopa intestinal gel for advanced Parkinson's disease: Impact of LRRK2 and GBA1 mutations

BackgroundAdvanced Parkinson's disease (PD) can be treated with Levodopa-Carbidopa Intestinal Gel (LCIG). ObjectiveTo compare descriptive data of LCIG treatment in GBA1-PD and LRRK2-PD. MethodsThis multicenter retrospective study compared clinical data obtained from electronic medical records of PD patients treated with LCIG. Patients were grouped based on their genetic status. ResultsFifty-two iPD, 15 LRRK2-PD and 23 GBA1-PD were included in this study. No difference in daily dose of LCIG or levodopa equivalent daily dose were detected. GBA1-PD had significantly shorter disease duration at LCIG initiation (p = 0.01) and experienced more hallucinations (p = 0.03) compared with LRRK2-PD and iPD. LRRK2-PD and iPD had significantly longer duration of LCIG treatment compared with GBA1-PD (p < 0.01). ConclusionOverall, LCIG treatment was well tolerated in LRRK2-PD and GBA1-PD. GBA1-PD required LCIG earlier in their course of their disease and had higher frequencies of hallucinations during treatment, attesting to a more severe disease course.

Inflammatory aspects of Alzheimer's disease.

Alzheimer´s disease (AD) stands out as the most common chronic neurodegenerative disorder. AD is characterized by progressive cognitive decline and memory loss, with neurodegeneration as its primary pathological feature. The role of neuroinflammation in the disease course has become a focus of intense research. While microglia, the brain's resident macrophages, have been pivotal to study central immune inflammation, recent evidence underscores the contributions of other cellular entities to the neuroinflammatory process. In this article, we review the inflammatory role of microglia and astrocytes, focusing on their interactions with AD's core pathologies, amyloid beta deposition, and tau tangle formation. Additionally, we also discuss how different modes of regulated cell death in AD may impact the chronic neuroinflammatory environment. This review aims to highlight the evolving landscape of neuroinflammatory research in AD and underscores the importance of considering multiple cellular contributors when developing new therapeutic strategies.

Cluster analysis identifies clinical phenotypes of primary hyperhidrosis.

Introduction Identifying subgroups of patients with primary hyperhidrosis (PHH) can improve the understanding of the disease pathophysiology. The study objective is to determine the naturally occurring subgroups of patients with PHH based on clinical characteristics. Methods In this retrospective cohort study, data was collected from participants included in a clinical trial. The data was collected between January 2020 and June 2021 from outpatients with PHH attending a dermatologic department in Denmark. Overall, 84 patients with PHH were screened for inclusion in the clinical trial. Of these, 41 met the eligibility criteria. Four participants were excluded because of missing data. The main outcome was the identification of subgroups of patients with PHH using an unsupervised hierarchical cluster analysis. Results Overall, 37 patients were included (28 [76.7%] females; median age at inclusion 28.0 [interquartile range (IQR) 24.0-38.3]; median body mass index 24.9 [IQR 20.9-27.4); median age of onset 13.0 [IQR 9.5-18.5]; and 26 [70.3%] had a familial disposition towards PHH). Two clusters of 18 and 17 patients were identified. The first cluster had, when compared to the second, a younger age of onset (median age 11.0 [IQR 0-13.0] vs. 17.0 [IQR 15.0-21.0], p=0.003) and higher sweat rates on gravimetry (median 175.0 [IQR 121.2-252.5] vs. 40.0 [IQR 20.0-60.0] milligrams of sweat/5 minutes, p&lt;0.001) and transepidermal water loss (median 93.7 [IQR 91.2-97.8] vs. 59.0 [IQR 44.4-73.2] grams/meter2/hour, p&lt;0.001). No differences were observed for the other variables. Conclusions This study identifies two subgroups of patients with PHH. The patients with an onset of PHH during childhood had a substantially higher sweat and evaporation rate in adulthood than those with an onset during adolescence. These findings may imply a changed understanding of the pathophysiology of PHH, by indicating that an early disease onset can lead to a worse disease course.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging. In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023. TTN mutations were detected through exome or genome sequencing. Information about familial and personal clinical history was collected in a standardized form. RNA-sequencing and analysis of TTN exon usage were performed on an internal sample cohort including postnatal skeletal muscles, fetal skeletal muscles, postnatal heart muscles, and fetal heart muscles. In addition, publicly available RNA-sequencing data was retrieved from ENCODE. We generated new RNA-seq data on TTN exons and identified genotype-phenotype correlations with prognostic implications for each titinopathy patient (whether worsening or improving in prenatal and postnatal life) using percentage spliced in (PSI) data for the involved exons. Interestingly, thanks to exon usage, we were also able to rule out a titinopathy diagnosis in one prenatal case. This study demonstrates that exon usage provides valuable insights for a more exhaustive clinical interpretation of TTNtv; additionally, it may serve as a model for implementing personalized medicine in many other genetic diseases, since most genes undergo alternative splicing.

Clinical effect of modified anterolateral acromioplasty in rotator cuff repair under shoulder arthroscope

Objective: To compare the clinical effect of modified anterolateral and traditional acromioplasty in arthroscopic rotator cuff repair. Methods: The clinical data of 92 patients with total rotator cuff tears admitted to the Department of Joint Surgery of Jinhua Central Hospital from January 2016 to December 2019 were retrospectively analyzed. Of the patients, 42 were male, 50 were female, with a mean age of (57.1±13.2) years. Among them, 42 patients underwent traditional acromioplasty during arthroscopic rotator cuff repair (traditional group), and 50 underwent modified anterolateral acromioplasty (modified group). The preoperative and postoperative shoulder function of the patients in the two groups were evaluated and compared by using the University of California Los Angeles (UCLA), the rating scale of the American Shoulder and Elbow Surgeons (ASES), and the constant Murley shoulder score scale. And the preoperative and postoperative pain of patients was evaluated with visual analog scale (VAS). The incidence of rotator cuff retears 12 months after operation was counted. Results: There was no statistically significant differences in general information such as gender, age, affected side and course of disease between the two groups before the surgery (all P<0.05). All patients were followed up for (12.9±1.1) months. There was no significant differences in the UCLA score (31.4±3.0 vs 32.0±2.5), ASES score (13.1±0.7 vs 13.3±0.6), Constant Murley shoulder score (92.1±6.6 vs 94.3±4.6) and VAS score (1.5±0.8 vs 1.2±1.1) between the traditional group and the modified group 12 months after the operation (all P>0.05). The preoperative CSA (36.0°±1.7°) in the traditional group did not differ significantly from that at 12 months postoperatively (35.5°±1.2°) (P=0.270); the postoperative CSA at 12 months (30.8°±2.5°) in the modified group was significantly smaller than that before the operation (36.5°±1.9°), and also was smaller than that in the traditional group 12 months after the operation (35.5°±1.2°) (both P<0.05). At 12 months after operation, the rate of rotator cuff tears in the traditional group and modified group was 16.7% (7/42) and 4.0% (2/50), respectively (P=0.045). Conclusions: Traditional and modified anterolateral acromioplasty in treating total rotator cuff tears using arthroscopic rotator cuff repair can significantly improve shoulder joint function. However, modified anterolateral acromioplasty significantly reduces the CSA value and decreases the incidence of rotator cuff re-tears.

Is overweight a predictor for a more severe course of disease in cases of necrotizing fasciitis?

Necrotizing fasciitis is a rare but severe soft tissue infection, and its diagnosis is difficult and often delayed. Immediate treatment comprising extensive debridement, highly dosed broad-spectrum antibiotic therapy and intensive care is necessary to prevent fatal outcomes. Considering the global rise in overweight patients and the known negative effects of obesity on the immune system, the aim of this study was to analyze whether overweight results in a more severe course of necrotizing fasciitis, worse outcomes and an increased mortality rate among overweight patients compared than in normal weight patients. The present study involved a retrospective analysis of 29 patients who were treated for necrotizing fasciitis in our level one trauma center during the eight-year period between 2013 and 2020. Based on their BMIs, the patients were assigned to either the overweight group (BMI > 25) or the normal weight group. In the study population, being overweight appeared to be a predictor for a more severe course of necrotizing fasciitis. Overweight patients suffered from sepsis significantly more often than normal weight patients (13 vs. 5; p = 0.027). Furthermore, they were dependent on invasive ventilation (26.6 ± 33.8 vs. 5.9 ± 11.9 days; p = 0.046) as well as catecholamine support (18.4 ± 23.7 vs. 3.6 ± 5.7 days; p = 0.039) for significantly longer. Necrotizing fasciitis remains a challenging and potentially fatal disease. Within the patient collective, the severity of the disease and treatment effort were increased among overweight patients.

Relationship between postoperative rehabilitation style, gastrointestinal function, and inflammatory factor levels in children with intussusception.

Intussusception occurs in children and progresses rapidly. If not treated in time, it may lead to secondary complications such as intestinal perforation, which affect the quality of life and health of children. Surgery is the most common clinical treatment and has a good effect. However, the postoperative prognosis of children with intussusception has a correlation with the postoperative rehabilitation method. Therefore, in this study, we explored the relationship between postoperative rehabilitation, gastrointestinal function, and the expression of inflammatory factors in children with intussusception. To explore the relationship between postoperative rehabilitation, gastrointestinal function, and inflammatory factor levels in children with intussusception. The medical records of 18 children who were admitted to our hospital for intussusception surgery between October 2022 and May 2024 were retrospectively reviewed. The patients were divided into the routine nursing group (n = 6) and rehabilitation training group (n = 12) according to the postoperative rehabilitation method. The general data, gastrointestinal function, and inflammatory factor levels of the two groups were statistically analyzed. Pearson correlation analysis of gastrointestinal function, inflammatory factors, and postoperative rehabilitation was performed. We found no significant intergroup differences in sex, age, or disease course (P > 0.05). The times to first defecation, bowel sound recovery, and anal exhaust were shorter and inflammatory factor levels were lower in the rehabilitation training group than in the routine nursing group (P < 0.05). Pearson correlation analysis showed that gastrin and motilin levels were positively correlated with postoperative rehabilitation (P < 0.05). Interleukin (IL)-2, IL-4, IL-6, IL-10, high-sensitivity C-reactive protein, and tumor necrosis factor-α levels were negatively correlated with postoperative rehabilitation (P < 0.05). Gastrointestinal function was positively correlated (P < 0.05), and levels of inflammatory factors were negatively correlated with postoperative recovery time (P < 0.05). We found a positive correlation between gastrointestinal function and postoperative rehabilitation training, and a negative correlation between inflammatory factor levels and rehabilitation training in children with intussusception.

MYC translocation is a valuable marker for the development and relapse of extramedullary disease in multiple myeloma.

To study the cytogenetic characteristics of extramedullary disease (EMD) in patients with multiple myeloma (MM) and their impact on prognosis. Patients with newly diagnosed MM (NDMM) at Peking Union Medical College Hospital (Beijing, China) between June 2007 and December 2019 were recruited for this study. Demographic information, clinical data, fluorescence in situ hybridization (FISH) results of marrow and tissue samples, and survival outcome data were collected. A total of 439 patients with NDMM were divided into those without EMD (non-EMD, n = 339), those with EMD with primary paraosseous plasmacytoma (pEMD-B, n = 48), those with primary EMD with soft-tissue involvement (pEMD-S, n = 33), and those with secondary EMD (sEMD, n = 19). The incidence of EMD was 18.5% (81/439) at diagnosis and 22.8% (100/439) throughout the disease course. Comparison of FISH results showed a higher proportion of RB1 deletion (n = 20; 60.0% vs. 20.0%, p = .013) and MYC translocation (n = 12; 44.4% vs. 12.5%, p = .041) in the extramedullary tissues than in the paired bone marrow samples. At diagnosis, the percentage of MYC translocations in the sEMD group was notably higher than that in the non-EMD group (55.6% vs. 15.5%, p = .012). The median overall survival (OS) of patients with pEMD-S (32 months) and sEMD (17 months) was significantly shorter (both p = .001) than that of non-EMD patients (60 months). Soft-tissue EMD can be considered a high-risk condition, even in the era of novel agents. MYC translocation can serve as a valuable marker that correlates with extramedullary spread and relapse in patients with MM and should be considered for inclusion in routine FISH panels in clinical practice.

Ocular manifestations of West Nile virus.

Over the past two decades, the ophthalmic manifestations of West Nile virus have been more clearly established in the literature. This review aims to summarize its diagnosis and pathogenesis, with a focus on its clinical appearance, characteristic imaging features, and management. Ocular manifestations of West Nile virus present early in the disease course and are more common in cases with severe neurological involvement. The use of optical coherence tomography (OCT), optical coherence tomography angiography (OCT-A), fundus autofluorescence (FAF), fluorescein angiogram (FA), and indocyanine green angiography (ICGA) can aid in its diagnosis and management. West Nile virus infection may present with ocular findings that include anterior uveitis, vitritis, retinitis, chorioretinitis, and optic neuropathy; visual prognosis can range from excellent to poor depending on severity of involvement and the presence of secondary complications, such as occlusive vasculitis and macular ischemia. Diagnosis may be aided by multimodal imaging assessment. The ophthalmologist should have a high clinical suspicion for ocular involvement in cases of severe systemic disease.