Medicine最新文献

Caregivers of individuals with rare genetic diseases experience substantial and persistent challenges that negatively affect their quality of life (QoL) and increase their burden. This study explored factors associated with caregiver QoL and burden in South Korea, focusing on patient characteristics, treatment availability, and genetic counseling experience. A cross-sectional survey was conducted with 159 caregivers of patients with rare genetic diseases at a tertiary general hospital. Caregiver QoL and burden were measured using the Caregiver QoL Scale and the Korean version of the Burden Assessment Scale. Demographic and clinical characteristics were also collected. Statistical analyses were performed using R software. Group differences were evaluated using Welch t tests, Wilcoxon rank-sum tests, and one-way analysis of variance with post hoc tests. Correlation analyses examined associations between QoL and caregiver burden. Caregiver QoL was significantly higher among those caring for minors, whereas caregiver burden was significantly higher among those caring for patients with registered disabilities. Treatment availability was associated with higher caregiver QoL and lower burden. Disease category also influenced outcomes: caregivers of patients with progressive conditions and localized impairments reported significantly lower QoL than those caring for patients with chronic conditions with effective treatment or symptomatic care or stable conditions with disabilities. Conversely, caregivers of patients with fatal diseases lacking effective treatment reported significantly higher burden than those caring for patients with chronic conditions with effective treatment. Caregiver QoL and burden were strongly and negatively correlated. Most caregivers (68.6%) had no prior genetic counseling experience, although those with counseling experience reported higher family openness scores, a QoL subdomain. Caregiver QoL and burden are closely linked to patient characteristics, treatment availability, and contextual caregiving demands. Expanding access to effective treatments, improving service accessibility, and integrating genetic counseling into caregiver support systems may improve the well-being of families affected by rare genetic diseases.

This study investigates the role of psychomotor rehabilitation in the rehabilitation exercise of elderly patients with mental disorders. Eighty-six elderly patients with mental disorders admitted to our hospital from May 2023 to May 2024 were selected as study subjects and randomly divided into 2 groups. The observation group (n = 41) received psychomotor rehabilitation, while the control group (n = 45) underwent conventional rehabilitation exercise. Both groups were continuously intervened for 10 weeks. The Montreal Cognitive Assessment (MoCA), internalized stigma of mental illness scale (a student evaluation version), social disability screening schedule, dysfunction assessment scale, and incidence of risk events were compared between the groups. Psychomotor rehabilitation demonstrates ideal effects, effectively enhancing cognitive function in elderly patients with mental disorders, reducing internalized stigma, improving dysfunctional conditions, alleviating social function deficits, and lowering the occurrence of risk events. It is safe and worthy of clinical application. Before intervention, there was no statistically significant difference in MoCA scores between the groups (P >.05). After intervention, the scores in attention, language ability, abstract thinking, and short-term memory improved in both groups, with the observation group showing significantly higher scores than the control group (P <.05). Before intervention, there was no significant difference in internalized stigma of mental illness scores between the groups (P >.05). After intervention, the scores for stigma resistance, alienation, social withdrawal, stereotype endorsement, discrimination, and total score decreased in both groups, with the observation group showing significantly lower scores than the control group (P <.05). Before intervention, there were no significant differences in social disability screening schedule and dysfunction assessment scale scores between groups (P >.05). After intervention, both scores decreased in both groups, with the observation group significantly lower than the control group (P <.05). The incidence of risk events (mania, aggression, impulsivity, falls, etc) in the observation group was significantly lower than that in the control group (P <.05).

Rationale: Mycobacterium tilburgii is the causative agent of disseminated non-tuberculosis mycobacterial infections in individuals who are immunocompromised, including those with human immunodeficiency virus infection. Owing to its non-culturable nature, identification of M. tilburgii relies solely on genetic analysis, making reports of M. tilburgii infections rare. We report a case of disseminated M. tilburgii infection complicated by a mixed pulmonary non-tuberculosis mycobacterial infection in a patient with acquired immunodeficiency syndrome.

Patient concerns: A male patient in his 40s, diagnosed with human immunodeficiency virus, was admitted with suspected disseminated non-tuberculosis mycobacterial infection based on initial laboratory findings and mycobacterial testing. Mycobacterium intracellulare and Mycobacterium kansasii were detected in the respiratory specimens. Acid-fast staining of the blood and bone marrow samples was positive; however, no bacterial growth was observed in the cultures. Genetic analysis of the blood and bone marrow samples revealed the presence of M. tilburgii.

Diagnoses: The patient was diagnosed with disseminated M. tilburgii infection, accompanied by a mixed pulmonary non-tuberculosis mycobacterial infection. Enterococcus faecium, Candida parapsilosis, and Candida glabrata were also detected in blood cultures.

Outcomes: Despite ongoing treatment with antibiotics and antifungals, the patient died of septic shock.

Lessons: Mycobacterium tilburgii is non-culturable; therefore, when acid-fast bacilli are detected in smear microscopy without subsequent culture growth, clinicians should consider the possibility of M. tilburgii infection and conduct thorough investigations.

Acute ischemic stroke is a time-critical condition in which timely and effective intravenous thrombolysis is essential for improving neurological recovery and long-term functional outcomes. This retrospective observational study compared the clinical efficacy and safety of tenecteplase and urokinase in consecutive patients with acute ischemic stroke treated between January 2023 and December 2024. Patients were allocated to a Tenecteplase group (n = 78) or a Urokinase group (n = 82) according to the thrombolytic agent administered. Baseline demographic, vascular risk, clinical, and imaging characteristics were well balanced between groups. Early outcomes included vessel recanalization, 24-hour change in National Institutes of Health Stroke Scale (NIHSS) score, and early neurological improvement (NIHSS decrease ≥4 points). Functional outcome at 90 days was assessed using the modified Rankin Scale, while safety endpoints comprised intracranial hemorrhage (ICH), extracranial bleeding, serious adverse events, and mortality. Tenecteplase was associated with a significantly higher recanalization rate (59.0% vs 41.5%), greater 24-hour NIHSS improvement (mean ΔNIHSS 4.8 vs 3.2), and a higher proportion of patients achieving good functional outcome at 90 days (modified Rankin Scale 0-2: 84.6% vs 67.1%) compared with urokinase. Rates of ICH, symptomatic ICH, extracranial bleeding, serious adverse events, and in-hospital and 90-day mortality did not differ significantly between groups. These findings suggest that tenecteplase provides superior clinical benefit over urokinase without compromising safety in eligible patients with acute ischemic stroke.

Tinnitus is a prevalent condition that can impair quality of life, particularly among older adults. The antiaging protein α-Klotho may influence auditory health by reducing oxidative stress and inflammation within the cochlea and central auditory pathways. Given the established associations of α-Klotho with sex and depression, this study examined whether sex and depression modify the relationship between serum α-Klotho levels and tinnitus. This cross-sectional analysis included 4,244 participants aged 40 to 69 years from the 2011 to 2012 and 2015 to 2016 cycles of the National Health and Nutrition Examination Survey. Tinnitus was defined as self-reported ringing, roaring, or buzzing in the ears or head lasting at least 5 minutes in the past year. Serum α-Klotho concentrations were measured using an enzyme-linked immunosorbent assay. Multivariable logistic regression models were used to evaluate the association between α-Klotho and tinnitus, adjusting for potential confounders. Subgroup analyses stratified by sex and depression status and sensitivity analyses were performed. In fully adjusted models, higher serum α-Klotho levels were associated with lower odds of tinnitus (odds ratio [OR] = 0.79; 95% confidence interval [CI]: 0.65-0.97). Stronger inverse associations were observed among females (OR = 0.75; 95% CI: 0.56-0.99) and participants without depression (OR = 0.74; 95% CI: 0.59-0.93). Serum α-Klotho levels were inversely associated with tinnitus prevalence, particularly among females and individuals without depression. These findings are derived from a cross-sectional observational analysis and should not be interpreted as causal.

Rationale: Extramedullary relapse of acute lymphoblastic leukemia (ALL) involving the orbit is uncommon, and lacrimal gland infiltration is particularly rare in adults. Bilateral lacrimal gland enlargement can be clinically nonspecific and may be misinterpreted as inflammatory or autoimmune disease, potentially delaying diagnosis. This case report describes a rare adult case of extramedullary relapse of B-cell ALL presenting as bilateral lacrimal gland enlargement following allogeneic hematopoietic stem cell transplantation (HSCT).

Patient concerns: A 55-year-old woman presented with a 4-day history of a painless, palpable mass in the right upper eyelid. The patient had a history of Philadelphia chromosome-negative B-cell ALL and had previously undergone chemotherapy followed by allogeneic HSCT.

Diagnoses: Orbital computed tomography demonstrated diffuse, heterogeneous enlargement of both lacrimal glands, more prominent on the right side. Incisional biopsy of the right lacrimal gland with immunohistochemical staining (terminal deoxynucleotidyl transferase positive and B-lineage markers positive) confirmed extramedullary relapse of B-cell ALL.

Interventions: The patient received salvage chemotherapy followed by a 2nd allogeneic HSCT.

Outcomes: Follow-up orbital computed tomography performed 6 months after treatment showed complete resolution of bilateral lacrimal gland enlargement without evidence of local progression.

Lessons: Bilateral lacrimal gland enlargement in patients with a history of ALL may represent isolated extramedullary relapse, even in the absence of hematologic abnormalities. Early histopathologic confirmation is essential to prevent diagnostic delay and to enable timely systemic management in ALL patients.

Nephrotic syndrome in children is a frequent glomerular disorder characterized by heavy proteinuria, hypoalbuminemia, edema, and dyslipidemia, most commonly caused by minimal change disease. Although corticosteroids remain the first-line therapy, variable treatment responses and the growing prevalence of steroid-resistant cases underscore the need for improved therapeutic strategies. The pathogenesis involves podocyte injury, immune dysregulation, and genetic susceptibility, highlighting the importance of early risk stratification. This review synthesizes current understanding of disease mechanisms, standard and emerging treatment options, and supportive care measures that mitigate complications such as infections, thromboembolism, and long-term renal impairment. By examining recent advances in biomarkers and precision medicine, the study aims to clarify how individualized treatment approaches can optimize outcomes while minimizing drug-related toxicity. A clearer understanding of evolving therapies and targeted podocyte-protective agents provides a foundation for future research and improved management of pediatric nephrotic syndrome.

This study aimed to explore the association between the implementation of doctor-patient assistants (DPA) and surgical efficiency as well as healthcare quality in gynecological ambulatory surgery. A retrospective cohort study was conducted on 157 patients undergoing gynecological ambulatory surgeries at Qinghai Red Cross Hospital between January 2024 and January 2025. The control group (n = 89) received conventional management, while the study group (n = 68) was managed with involvement of DPAs. Surgical efficiency, patients' negative emotions, nursing quality scores, surgery cancelation rates, and patient satisfaction were evaluated. The study group showed a higher rate of complete preoperative preparation, shorter patient transfer time, reduced waiting time for the first surgery case, and shorter intervals between consecutive surgeries (P < .05). Negative emotion scores were significantly lower in the study group (P < .05). Nursing quality scores were higher in the study group (P < .05). The surgery cancelation rate was lower in the study group (P < .05). Patient satisfaction scores were significantly higher in the study group (P < .05). In this retrospective study, the involvement of DPA in gynecological ambulatory surgery workflows was associated with enhanced surgical efficiency and improved healthcare quality.

This study evaluates the impact of different surgical methods on sexual function and partner satisfaction in women with isolated apical pelvic organ prolapse. It compares uterus-sparing procedures (laparoscopic lateral mesh suspension [LLMS] and laparoscopic uterosacral ligament suspension [LUSLS]) with vaginal hysterectomy (VH) and bilateral sacrospinous ligament fixation (SSLF). This retrospective study included 20 patients with isolated apical uterine prolapse between March 2020 and March 2022. Patients were divided into 2 groups: Group 1 underwent LLMS and LUSLS, while Group 2 received VH and SSLF. Preoperative and postoperative sexual function was assessed using the Female Sexual Function Index, Quality of Sexual Experience Scale, Pelvic Organ Prolapse Symptom Score, and Female Genital Self-Image Scale. Partner sexual function was evaluated using the International Erectile Dysfunction Index. Both groups showed significant postoperative improvements in sexual function, with Group 1 demonstrating greater enhancement across all Female Sexual Function Index subdomains. Although vaginal length decreased in both groups, no significant difference was observed between them. Partner erectile function scores were significantly higher in Group 1, which also showed better overall sexual satisfaction. Uterus-sparing surgeries, particularly LLMS and LUSLS, lead to better sexual function, partner satisfaction, and recovery compared to VH with SSLF. Preserving the uterus and cervix may help maintain sexual function and improve patient outcomes, emphasizing the importance of anatomical and functional preservation in pelvic organ prolapse surgery.

Rationale: Neuroblastoma is the most common extracranial solid tumor in early childhood and may present with nonspecific symptoms that delay diagnosis, particularly in resource-limited settings. Intracranial involvement affecting the optic pathway is exceptionally rare. This report describes an unusual presentation of neuroblastoma leading to irreversible bilateral blindness.

Patient concerns: A 29-month-old male with albinism presented with fever, abdominal pain, and pallor and was initially treated for a presumed urinary tract infection. Within days, he developed awakening headache followed by sudden bilateral blindness.

Diagnoses: Imaging studies, including ultrasound, computed tomography, and magnetic resonance imaging, revealed a large right suprarenal mass with widespread metastases involving the optic chiasm and cranial bones. Histopathological examination confirmed stage 4 neuroblastoma.

Interventions: The patient underwent surgical debulking followed by chemotherapy according to the St. Jude high-risk protocol.

Outcomes: Partial regression of metastatic lesions was achieved; however, visual loss remained permanent.

Lessons: Neuroblastoma may present with atypical neurological manifestations, including optic chiasm metastasis leading to blindness. Early abdominal imaging in pediatric patients with unexplained systemic or abdominal symptoms is essential to prevent delayed diagnosis and irreversible complications.