Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). Lentivirus-modified autologous hematopoietic stem cell gene therapy (HSCGT) has recently been approved for clinical use in pre and early symptomatic children with MLD to increase ARSA activity. Unfortunately, this advanced therapy is not available for most patients with MLD who have progressed to more advanced symptomatic stages at diagnosis. Patients with late-onset juvenile MLD typically present with a slower neurological progression of symptoms and represent a significant burden to the economy and healthcare system, whereas those with early onset infantile MLD die within a few years of symptom onset. We conducted a pilot study to determine the safety and benefit of HSCGT in patients with postsymptomatic juvenile MLD and report preliminary results. The safety profile of HSCGT was favorable in this long-term follow-up over 9 years. The most common adverse events (AEs) within 2 months of HSCGT were related to busulfan conditioning, and all AEs resolved. No HSCGT-related AEs and no evidence of distorted hematopoietic differentiation during long-term follow-up for up to 9.6 years. Importantly, to date, patients have maintained remarkably improved ARSA activity with a stable disease state, including increased Functional Independence Measure (FIM) score and decreased magnetic resonance imaging (MRI) lesion score. This long-term follow-up pilot study suggests that HSCGT is safe and provides clinical benefit to patients with postsymptomatic juvenile MLD.
Humans ; Leukodystrophy, Metachromatic/genetics* ; Pilot Projects ; Genetic Therapy/methods* ; Hematopoietic Stem Cell Transplantation ; Male ; Follow-Up Studies ; Female ; Lentivirus/genetics* ; Child ; Child, Preschool ; Hematopoietic Stem Cells/metabolism* ; Cerebroside-Sulfatase/metabolism* ; Adolescent

OBJECTIVES: This study aims to analyze the clinical symptoms and imaging manifestations in patients with temporomandibular disorder syndrome (TMD), who are sensitive to sudden temperature drop. METHODS: One hundred and nineteen patients with TMD who attended the Department of Stomatology of the First Medical Center of Chinese People's Liberation Army General Hospital from December 2022 to December 2023 were included, including 44 males and 75 females, with a mean age of 32.4±13.7 years.The questionnaire was used to determine whether they were sensitive to temperature drop, and the TMD patients were divided into a temperature plunge-sensitive group and a temperature drop insensitive group. The clinical symptoms and imaging manifestations of patients in the two groups were observed. SPSS 25.0 was used for statistical analysis. RESULTS: There was no statistically significant difference between the gender and age of patients in the temperature plunge-sensitive group (50 patients) and the insensitivity group (69 patients) (P>0.05). The percentage of patients with pain was slightly higher in the temperature plunge-sensitive group [86.0% (43/50)] than in the insensitive group [68.1% (47/69)], and the difference was statistically significant (χ²=5.031, P=0.025), while the differences in joint murmur and mouth opening limitation between the two groups were not statistically significant. A total of 238 lateral joints were detected in both groups, the percentage of osteoarthropathic imaging changes was significantly higher in the temperature plunge-sensitive group [82.0% (82/100)] than in the insensitive group [53.6% (74/138)] (χ²=20.675, P<0.001). Magnetic imaging showed that the percentage of joint effusion was higher in patients in the temperature plunge-sensitive group [66.0% (33/50)] than in the insensitive group [42.0% (29/69)], and the difference was statistically significant (χ²=5.602, P=0.018). CONCLUSIONS TMD patients with maxillofacial pain symptoms, joint effusions, and abnormal imaging of osteoarticular structures are more likely to be sensitive to sudden temperature drops.
Humans ; Male ; Female ; Adult ; Temporomandibular Joint Disorders/diagnosis* ; Surveys and Questionnaires ; Middle Aged ; Young Adult ; Temperature ; Adolescent

Critically ill patients are at high risk for hospital acquired infections, which can significantly increase the mortality rate and treatment costs for these patients. Therefore, in the process of treating the primary disease, strict prevention and control of new hospital infections is an essential component of the treatment for critically ill patients. The treatment of critically ill patients involves multiple steps and requires a concerted effort from various aspects such as theory, management, education, standards, and supervision to achieve effective prevention and control of hospital infections. However, there is currently a lack of unified understanding and standards for hospital infection prevention and control. To address this, in March 2024, a group of experts in critical care medicine, infectious diseases, and hospital infection from China discussed the current situation and issues of hospital infection control in the intensive care unit together. Based on a review of the latest evidence-based medical evidence from both domestic and international sources, 2024 Expert Consensus on Hospital Acquired Infection Control Principles in the Department of Critical Care Medicine was formed, aiming to provide a basis for the development of hospital infection prevention and control strategies in the field of critical care medicine.

Objective A high sodium(HS)diet is believed to affect bone metabolism processes.Clarifying its impact on osseointegration of titanium(Ti)implants holds significant implications for postoperative dietary management of implanted patients. Methods This investigation probed the impact of sodium ions(Na+)on neovascularization and osteogenesis around Ti implants in vivo,utilizing micro-computed tomography,hematoxylin and eosin staining,and immunohistochemical analyses.Concurrently,in vitro experiments assessed the effects of varied Na+concentrations and exposure durations on human umbilical vein endothelial cells(HUVECs)and MC3T3-E1 cells. Results In vivo,increased dietary sodium(0.8%-6.0%)led to a substantial decline in CD34 positive HUVECs and new bone formation around Ti implants,alongside an increase in inflammatory cells.In vitro,an increase in Na+concentration(140-150 mmol/L)adversely affected the proliferation,angiogenesis,and migration of HUVECs,especially with prolonged exposure.While MC3T3-E1 cells initially exhibited less susceptibility to high Na+concentrations compared to HUVECs during short-term exposure,prolonged exposure to a HS environment progressively diminished their proliferation,differentiation,and osteogenic capabilities. Conclusion These findings suggest that HS diet had a negative effect on the early osseointegration of Ti implants by interfering with the process of postoperative vascularized bone regeneration.

Objective:To evaluate the therapeutic effects of Yufu ointment for acute radiation-induced skin injury. Methods:We enrolled a total of 104 patients with malignant tumors who developed acute skin injury of grade 2-3 during or after the first course of radiotherapy from June 2019 to February 2023. The observation group ( n=53) and control group ( n=51) received external application of Yufu ointment and Shirun Shaoshang ointment, respectively. We recorded the changes in the grade of skin injury and associated symptoms (such as pain, itching, and burning sensation) and healing speed and time for the two groups. Results:A total of 102 patients completed the study, with 53 cases in the observation group and 49 cases in the control group. The incidence rate of moisture skin lesions in the observation group was significantly lower than that in the control group (62.26% vs. 83.67%, P<0.05). The healing speed of moisture skin ulcerations was significantly faster in the observation group than in the control group (1.67 cm 2/d vs. 0.55 cm 2/d, P<0.05). The observation group had a significantly shorter time to skin injury healing than the control group (10.40 d vs. 14.41 d, P<0.05), significantly different for skin injury of grade 2 (10.21 d vs. 17.57 d, P<0.05) but not for skin injury of grades 2.5 and 3 ( P>0.05). Regarding clinical symptoms, both groups experienced significant reductions in pain and burning sensation scores after treatment ( P<0.05); the grade of itching was significantly decreased for the observation group ( P<0.05), but had no significant change for the control group after treatment ( P>0.05). Conclusions:Yufu ointment can significantly alleviate secondary damage for patients with acute radiation-induced skin injury, by accelerating the healing process and relieving symptoms such as pain, itching, and burning sensation with good tolerability, which deserves further promotion.

Objective To investigate the effect of residual corneal astigmatism on visual acuity after regional refrac-tive intraocular lens(IOL)implantation.Methods A retrospective cohort study was conducted.The medical records and follow-up data of 73 eyes of 57 cataract patients who underwent ultrasound emulsification cataract extraction combined with LENTIS Comfort LS-313 MF15 IOL implantation in the Ophthalmology Department of the Hebei General Hospital from June 2020 to March 2022 were collected.These patients were grouped according to postoperative residual corneal astigmatism:32 patients(40 eyes)with a residual corneal astigmatism of 0.75(exclusive)-1.50 D were taken as the experimental group,and 25 patients(33 eyes)with a residual corneal astigmatism ≤0.75 D were taken as the control group.The uncor-rected distance visual acuity(5 m),uncorrected intermediate visual acuity(80 cm),uncorrected near visual acuity(40 cm),out-of-focus curve,objective visual quality,subjective visual quality,satisfaction degree and lens removal rate of pa-tients in the two groups were recorded 6 months postoperatively.Results The postoperative uncorrected distance visual acuity(logMAR)was 0.10(0.00,0.22),the uncorrected intermediate visual acuity(logMAR)was 0.00(0.00,0.10),and the uncorrected near visual acuity(logMAR)was 0.20(0.10,0.30)and 0.20(0.10,0.20)in the experimental and control groups,with no statistically significant differences(all P＞0.05).The postoperative out-of-focus curves showed that the distance visual acuity of patients with additional spherical equivalent refraction ranged from+2.00 D to-4.00 D in the two groups had no statistically significant difference(all P＞0.05).There were statistically significant differences in to-tal aberration,coma aberration,modulation transfer function and Strehl ratio in the objective visual quality of patients after surgery(all P＜0.05),and there was no statistically significant difference in the total higher-order aberration,spherical ab-erration and cloverleaf aberration(all P＞0.05).There was no statistically significant difference in the subjective visual quality,satisfaction degree and lens removal rate in the two groups(all P＞0.05).Conclusion Residual corneal astig-matism of 0.75 D to 1.50 D after LENTIS Comfort LS-313 MF15 IOL implantation has no effect on higher-order aberration,spherical aberration,and cloverleaf aberration in subjective and objective visual quality,and has an impact on total aberra-tion,coma aberration,modulation transfer function and Strehl ratio in objective visual quality.

The effective local management of oligometastatic non-small cell lung cancer (NSCLC) has the potential to prolong patients' survival. The role of radiotherapy as a local treatment modality in patients with oligometastatic NSCLC, whether as first-line therapy or consolidation therapy, remains uncertain. Several studies have demonstrated that stereotactic ablative radiotherapy can offer clinical benefits for patients with oligometastatic NSCLC without increasing adverse reactions. Furthermore, the exploration of the potential synergistic effects of combining radiotherapy and immunotherapy on extending progression-free survival and overall survival in patients with oligometastatic NSCLC is also a topic worthy of attention.

Since the first intraocular lens(IOL)was implanted by Harold Ridley in 1949 and the widespread use of depth-of-focus extended intraocular lens(EDOF IOL)clinically, the IOL has been constantly updated and developed, aiming to provide patients with good postoperative visual quality. The residual astigmatism is one of the important factors affecting the postoperative visual quality of cataract patients, 35%-40% of cataract patients have astigmatism of 1.00 D, and 19%-22% have astigmatism of 1.50 D. Therefore, it is important to understand the inclusiveness of EDOF IOL for astigmatism, so that the right IOL can be selected for the patient. This article summarizes the inclusiveness of different types of EDOF IOL for astigmatism and their advantages and disadvantages, with the expectation that it will provide a reference in selecting EDOF IOL for patients with different residual astigmatism.

AIM: To investigate the effect of residual astigmatism on visual quality after phacoemulsification combined with regional refractive intraocular lens(IOL)implantation in patients with age-related cataract, and to evaluate the astigmatism inclusivity of regional refractive IOL.METHODS: Retrospective cohort study. The clinical data of 62 cases(73 eyes)of age-related cataract patients who underwent phacoemulsification combined with regional refractive IOL(Lentis Comfort LS-313 MF15)implantation from July 2020 to March 2022 at the ophthalmology department of our hospital were collected. They were grouped according to residual astigmatism at 6 mo postoperatively, taking 35 cases(40 eyes)with residual astigmatism of 0.75 D to 1.50 D as the experimental group, and 27 cases(33 eyes)with residual astigmatism ≤0.75 D as the control group. Visual acuity, defocus curves, objective visual acuity [wavefront aberrations, Strehl ratio(SR), modulation transfer functions(MTF)], subjective visual acuity(national eye institute visual function questionnaire-25), patients' satisfaction, and spectacle independence were compared between the two groups at 6 mo postoperatively.RESULTS:There was a difference in the preoperative astigmatism and the number of postoperative 6 mo residual astigmatism between the two groups(P<0.01). At 6 mo postoperatively, there was no difference in uncorrected distance, intermediate, and near visual acuity, objective visual quality, subjective visual quality, satisfaction, and spectacle independence between the two groups(P>0.05). The defocus curves showed that there was no difference in visual acuity between the two groups at all points in the +2.00 to -4.00 D defocus range of the additional spherical equivalent(P>0.05).CONCLUSION:Lentis Comfort LS-313 MF15 IOL was able to accommodate regular astigmatism of 1.50 D.

Purpose To investigate the clinicopathological features,immunophenotype,molecular changes,differential di-agnosis,treatment and prognosis of the micropapillary subtype of serous borderline tumor(MSBT)in the ovary.Methods The clinical and pathological data of 14 cases of ovarian MSBT.Im-munohistochemical EnVision staining was used to detect the ex-pression of IMP3.BRAF and KRAS mutations were detected by qRT-PCR and Sanger sequencing,respectively.Its clinical and pathological characteristics were analyzed with review of relevant literature.Results The age of the patients ranged from 27 to 56 years,with mean 41.7 years.Nine cases had bilateral ovari-an masses.Preoperative serum CA125 increased in 11 cases.On gross examination,the cut section was cystic and solid with intracystal papillae.Microscopically,all cases showed a papilla-ry structure,with the characteristic elongated micropapillae radi-ating directly from the cyst wall or large unbranched papillae.The length to width ratio of the papillae was greater than 5.The cells covering the papillae were cubic to polygonal.Mild to mod-erate atypia was noted with a range of＞5 mm in the micropapil-lary area.Five cases had microinvasion.Six cases had non-in-vasive peritoneal seeding.Five cases were accompanied by asci-tes,and atypical tumor cells were observed in ascites.Three ca-ses had lymph node involvement.Nine cases had psammoma bodies.Immunohistochemically,the tumor cells were positive for ER,PR,CA125,CK7 and WT-1;p53 was wild type,HER2 and IMP3 were negative,and Ki67 was positive in 5％to 30％.KRAS mutations were detected in 3 of 14 cases,inclu-ding G12C,G12D and Q70(nonsense mutation).No BRAF V600E mutation was detected,and 1 case had BRAF T559I mu-tation.Seven patients underwent radical surgery and 7 patients underwent conservative surgery without special treatment after surgery.Five patients had a history of recurrence,and the fol-low-up time ranged from 1 to 12 years.Conclusion MSBT has special morphology,often bilateral,and is prone to peritoneal implantation and recurrence.It should be distinguished from classical ovarian serous borderline tumor.