Objective:To investigate the long-term prognosis and related factors in children with multiphasic myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).Methods:A bidirectional cohort study was conducted. This study included 41 children with MOGAD who were treated at the Children′s Medical Center of Peking University First Hospital between January 2013 and December 2024, with a disease duration of ≥5 years. Demographic characteristics, clinical episodes, therapy, and prognostic indicators (including the expanded disability status scale (EDSS) and modified Rankin scale (mRS)) were collected. Children were stratified into relapse and non-relapse groups based on the presence or absence of relapse within 5 years of the last follow-up. χ2 test or Mann-Whitney U test was used to analyze factors associated with relapse. The Log-rank test was used to compare relapse-free rates between children with disease onset 0-<5 years and those with onset at 5-10 years. Results:A total of 41 children were enrolled, including 20 boys and 21 girls. The age at onset was 5.3 (3.8, 8.5) years, the age at last follow-up was 16.1 (13.2, 17.5) years, and the disease duration was 9.4 (8.1, 10.9) years. The annualized relapse rate (ARR) during follow-up was 0.34 (0.19, 0.56) times/year. The duration to first relapse was 0.8 (0.4, 1.5) years. At the last follow-up, the EDSS score was 0.0 (0.0, 0.0) score, and the mRS score was 0 (0, 0) score. A total of 40 children (98%) experienced relapses within the first 5 years after onset, while only 1 child (2%) relapsed at 6.7 years. The relapse rate between 5-10 years was lower than that between 0-<5 years ( HR=0.27, 95% CI 0.16-0.47, P<0.001). A total of 25 children (61.0%) exhibited clustered relapses during the disease course. There were 20 children (49%) in non-relapse groups, who were aged 16.6 (14.8, 17.6) years, disease duration 9.8 (9.3, 10.8) years at the last follow-up. Among those 20 children, 15 children (75%) had discontinued corticosteroids and immunosuppressants. The relapse group had higher clinical event rates and ARR compared to the relapse-free group (both P<0.01), the age at last follow-up was yonger ( P<0.05), while no significant differences were observed in age at onset, disease duration, or timing of immunosuppressant use (all P>0.05). Conclusions:Pediatric multiphasic MOGAD generally has a favorable prognosis, about half of patients remain relapse-free for ≥5 years at last follow-up. Relapses predominantly occur early in the disease course (mostly within 5 years of onset) and often exhibit a clustered pattern.

The clinical and genetic characteristics of a male child diagnosed with autosomal recessive cerebellar ataxia caused by compound heterozygous variants in VPS41, who was admitted to the Department of Neurology, Children′s Medical Center, Peking University First Hospital in July 2023, was retrospectively analyzed with a comprehensive literature review.The 10-year-old patient exhibited motor delay since infancy, achieving independent sitting at age 1 and independent walking at age 2, yet manifested unsteady gait with frequent falls.Motor skills progressed slowly, alongside academic underperformance.Physical examination revealed impaired ocular pursuit, nystagmus, and signs of ataxia.Brain magnetic resonance imaging (MRI) demonstrated mild cerebellar atrophy.Trio-based whole-exome sequencing identified compound heterozygous VPS41 variants (c.1247G>A, p.R416H and c. 1175dup, p.H392Qfs*2), segregating from each parent.This represents the first reported Chinese case of autosomal recessive cerebellar ataxia associated with VPS41 variants.Globally, only 13 patients with VPS41-related hereditary ataxia have been documented, involving 7 distinct variants.Both variants detected in this case are novel, expanding the disease′s mutational spectrum.

The clinical and genetic characteristics of a male child diagnosed with autosomal recessive cerebellar ataxia caused by compound heterozygous variants in VPS41, who was admitted to the Department of Neurology, Children′s Medical Center, Peking University First Hospital in July 2023, was retrospectively analyzed with a comprehensive literature review.The 10-year-old patient exhibited motor delay since infancy, achieving independent sitting at age 1 and independent walking at age 2, yet manifested unsteady gait with frequent falls.Motor skills progressed slowly, alongside academic underperformance.Physical examination revealed impaired ocular pursuit, nystagmus, and signs of ataxia.Brain magnetic resonance imaging (MRI) demonstrated mild cerebellar atrophy.Trio-based whole-exome sequencing identified compound heterozygous VPS41 variants (c.1247G>A, p.R416H and c. 1175dup, p.H392Qfs*2), segregating from each parent.This represents the first reported Chinese case of autosomal recessive cerebellar ataxia associated with VPS41 variants.Globally, only 13 patients with VPS41-related hereditary ataxia have been documented, involving 7 distinct variants.Both variants detected in this case are novel, expanding the disease′s mutational spectrum.

Objective:To investigate the long-term prognosis and related factors in children with multiphasic myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).Methods:A bidirectional cohort study was conducted. This study included 41 children with MOGAD who were treated at the Children′s Medical Center of Peking University First Hospital between January 2013 and December 2024, with a disease duration of ≥5 years. Demographic characteristics, clinical episodes, therapy, and prognostic indicators (including the expanded disability status scale (EDSS) and modified Rankin scale (mRS)) were collected. Children were stratified into relapse and non-relapse groups based on the presence or absence of relapse within 5 years of the last follow-up. χ2 test or Mann-Whitney U test was used to analyze factors associated with relapse. The Log-rank test was used to compare relapse-free rates between children with disease onset 0-<5 years and those with onset at 5-10 years. Results:A total of 41 children were enrolled, including 20 boys and 21 girls. The age at onset was 5.3 (3.8, 8.5) years, the age at last follow-up was 16.1 (13.2, 17.5) years, and the disease duration was 9.4 (8.1, 10.9) years. The annualized relapse rate (ARR) during follow-up was 0.34 (0.19, 0.56) times/year. The duration to first relapse was 0.8 (0.4, 1.5) years. At the last follow-up, the EDSS score was 0.0 (0.0, 0.0) score, and the mRS score was 0 (0, 0) score. A total of 40 children (98%) experienced relapses within the first 5 years after onset, while only 1 child (2%) relapsed at 6.7 years. The relapse rate between 5-10 years was lower than that between 0-<5 years ( HR=0.27, 95% CI 0.16-0.47, P<0.001). A total of 25 children (61.0%) exhibited clustered relapses during the disease course. There were 20 children (49%) in non-relapse groups, who were aged 16.6 (14.8, 17.6) years, disease duration 9.8 (9.3, 10.8) years at the last follow-up. Among those 20 children, 15 children (75%) had discontinued corticosteroids and immunosuppressants. The relapse group had higher clinical event rates and ARR compared to the relapse-free group (both P<0.01), the age at last follow-up was yonger ( P<0.05), while no significant differences were observed in age at onset, disease duration, or timing of immunosuppressant use (all P>0.05). Conclusions:Pediatric multiphasic MOGAD generally has a favorable prognosis, about half of patients remain relapse-free for ≥5 years at last follow-up. Relapses predominantly occur early in the disease course (mostly within 5 years of onset) and often exhibit a clustered pattern.

Objective:To evaluate the efficacy and safety of rituximab in pediatric myasthenia gravis (MG).Methods:Case series study. The clinical manifestations, laboratory tests, treatment plans and prognosis of 27 pediatric MG patients treated with rituximab from June 2013 to June 2023 at Children′s Medical Center of Peking University First Hospital were retrospectively collected.Results:There were 5 males and 22 females in 27 MG children. The onset age was 2.1 (1.6, 4.8) years, ranging from 8 months to 11 years. The clinical classification included 20 children (74%) of ocular MG and 7 children (26%) of generalized MG. Seventeen children (63%) had positive MG-related pathogenic antibodies, including 17 children of anti-AchR antibody and 1 of them also had anti-MuSK antibody. Rituximab was used as first-line immunosuppressant in 13 children, second-line immunosuppressant in 13 children and third-line immunosuppressant in 1 child. Immunosuppressants used before rituximab including 8 children of cyclosporine, 3 children of tacrolimus, 1 child of azathioprine, 1 child of mycophenolate mofetil and 1 child of cyclosporine combined with azathioprine. Rituximab was used for at least half a year with a follow-up period of more than 12 months. At the last follow-up after rituximab treatment, all children achieved improved or above, 14 children (52%) achieved complete stable remission, 7 children (26%) achieved pharmacologic remission, 1 child (4%) achieved minimal manifestations, and 5 children (18%) improved. After rituximab treatment, 27 children all could reduce the immunomodulation therapy and shorten the course of glucocorticoid therapy, and 22 children (81%) had stopped the glucocorticoid therapy. Among the 14 children with poor efficacy of other immunosuppressants, rituximab had complete stable remission of 7 children. The most common adverse reaction was respiratory infection (4 children (15%)). Only 2 children had allergic reaction to rituximab and got better after symptomatic treatment.Conclusions:Rituximab has good efficacy and tolerance in pediatric MG. Early application of rituximab can improve the prognosis and shorten the course of glucocorticoid treatment.

Objective To observe effect of hyperbaric oxygen (HBO) intervention on osteoporosis in rats with experimental premature ovary failureMethods Forty female Wister rats (with an age of 6 weeks) were randomly divided into 5 groups:the sham group,the deovary group,the estrin group,the HBO group and the hyperbaric air group,each consisting of 8 animals.With the exception of the sham group,all the other groups had ovariotomy bilaterally following anesthesia.One week later,the animals in the sham group and the deovary group were left there without any treatment,while the animals in the HBO group were exposed to HBO at a pressure of 0.1 MPa,one session a day for a succession of 10 days,then had one week interval every 10 sessions,with a total exposure time of 12 weeks.The animals in the hyperbaric air group were exposed to hyperbaric air at the same pressure and with the same treatment time and conditions.The animals in the estrin group received abdominal injection of estradiol benzoate once a week,for a succession of 12 weeks.After termination of the experiment,the animals of all the groups received lumbar vertebra and femora mineral density,bonc biomechanics and bone morphometry detection.Results After ovariotomy,lumbar vertebra mineral density was (0.087 8 ± 0.007 4) g/cm2 and femora mineral density was (0.114 1 ± 0.006 7) g/cm2.Lumbar vertebra biomechanics (216.32 ± 45.26) N and femora biomechanics (87.50 ± 4.01) N were significantly decreased,and statistical significance could be seen,as compared with those of the sham group [(381.58 ±28.75) N and(120 ± 16.26) N] (P ＜ 0.05).However,the levels of the above indicators did not reduce considerably and there was no significant difference,as compared with those of the sham group (P ＞ 0.05),but there was obviously significant difference in them,when it was compared with that of the hyperbaric air group (P ＞ 0.05).Conclusions HBO could delay the loss of bone mineral density and the reduced property of bone biomechanics in ovarectomized rats,and it had certain protective effect on the occurrence of osteoporosis after menopause.

Objective To observe effect of hyperbaric oxygen (HBO) intervention on osteoporosis in rats with experimental premature ovary failureMethods Forty female Wister rats (with an age of 6 weeks) were randomly divided into 5 groups:the sham group,the deovary group,the estrin group,the HBO group and the hyperbaric air group,each consisting of 8 animals.With the exception of the sham group,all the other groups had ovariotomy bilaterally following anesthesia.One week later,the animals in the sham group and the deovary group were left there without any treatment,while the animals in the HBO group were exposed to HBO at a pressure of 0.1 MPa,one session a day for a succession of 10 days,then had one week interval every 10 sessions,with a total exposure time of 12 weeks.The animals in the hyperbaric air group were exposed to hyperbaric air at the same pressure and with the same treatment time and conditions.The animals in the estrin group received abdominal injection of estradiol benzoate once a week,for a succession of 12 weeks.After termination of the experiment,the animals of all the groups received lumbar vertebra and femora mineral density,bonc biomechanics and bone morphometry detection.Results After ovariotomy,lumbar vertebra mineral density was (0.087 8 ± 0.007 4) g/cm2 and femora mineral density was (0.114 1 ± 0.006 7) g/cm2.Lumbar vertebra biomechanics (216.32 ± 45.26) N and femora biomechanics (87.50 ± 4.01) N were significantly decreased,and statistical significance could be seen,as compared with those of the sham group [(381.58 ±28.75) N and(120 ± 16.26) N] (P ＜ 0.05).However,the levels of the above indicators did not reduce considerably and there was no significant difference,as compared with those of the sham group (P ＞ 0.05),but there was obviously significant difference in them,when it was compared with that of the hyperbaric air group (P ＞ 0.05).Conclusions HBO could delay the loss of bone mineral density and the reduced property of bone biomechanics in ovarectomized rats,and it had certain protective effect on the occurrence of osteoporosis after menopause.

BACKGROUND: A number of studies have suggested that lycopene is an antioxidant which is used to decrease the risk of age-related chronic diseases.OBJECTIVE: To establish a rat model of postmenopausal osteoporosis, and to investigate the effects of lycopene in preventing bone loss in ovatiectomized rat models of osteoporosis.METHODS: The 6-month-old female Wistar rats, SPF grade, which had never given birth, were divided into sham and ovatiectomized groups. The ovatiectomized rats were further sub-divided into four groups which were administered with corn oil orally as model group, lycopene (10 mg/kg, 20 mg/kg, daily) or treated by intraperitoneal injection with estradiol benzoate (25 mg/kg, twice).RESULTS AND CONCLUSION: After 12-week administration, as compared with the model group, the uterus weight of high-dose and low-dose lycopene groups significantly increased (P < 0.05); the Ca, P, superoxide dismutase levels, percent trabecular area,and trabecular number were obviously higher, and serum alkaline phosphatase, urine deoxypyridinoline, malondialdehyde,trabecular separation and number of osteoclasts were obviously lower in the lycopene groups than the model group (P < 0.05). The bone mass index, bone bio-mechanics and bone histomorphometry were better in the lycopene groups than the model group (P < 0.05). These findings indicate that lycopene has a definite antiosteoporotic effect on ovatiectomized rats.

AIM: Lycopene as an antioxidant can decrease the risk of age-related chronic diseases, such as cancer. In this study, we investigated the impact of lycopene on bone mineral density and bone biomechanics in experimental osteoporotic rats. METHODS: The experiment was performed at the Animal Experiment Center of the Affiliated Hospital of Qingdao University Medical College from July 2006 to November 2007. The lycopene was provided by the Xinjiang Zhixing Technology Invest Development Company, and diluted to certain concentration by corn oil. Fifty six-month-old SPF female Wistar rats were selected and divided into 5 groups (n=10) according to body mass: Sham operation and corn oil group (2 mL/d), ovariectomy (OVX) and corn oil group (2 mL/d), OVX and estradiol benzoate (EB) group (0.2 mg/kg, once a week), low and high lycopene groups (10 mg/kg, 20 mg/kg, once a day). Except the sham operation group, all rats underwent OVX to establish models of osteoporosis. Each group was administrated corresponding medicine for 12 weeks. RESULTS: Within 2 weeks postoperatively, 1 of sham operation group died and 2 of low lycopene group died. Finally, 47 rats were included in final analysis. ①The lumbar and femoral bone mineral density and maximum stress of ovariectomized rats were significantly lower than those of sham operation group (P