This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease.

UNASSIGNED: To assess the midterm follow-up outcomes of total hip arthroplasty (THA) for the treatment of patients with juvenile-onset ankylosing spondylitis (JAS).
UNASSIGNED: The clinical data of 81 patients (127 hips) with JAS (age≤16 years, JAS group) and 267 patients (391 hips) with adult onset ankylosing spondylitis (AAS) (age>16 years, AAS group) between January 2004 and March 2018 were retrospectively analysed. The baseline demographics, clinical, radiographic, and laboratory parameters were collected. Before operation and at last follow-up, the overall disease activity [Bath ankylosing spondylitis disease activity index (BASDAI)] and function status [Bath ankylosing spondylitis functional index (BASFI)], hip subjective score [Harris hip score (HHS)] and objective score [12-item short form health survey (SF-12), including physical component score (PCS) and mental component score (MCS)], and patient satisfaction for THA were reviewed. The major orthopedic complications, including periprosthetic infection, dislocation, periprosthetic fractures, and poor incision healing, were also recorded during the follow-up period.
UNASSIGNED: The comparison of preoperative baseline parameters showed that the body mass, body mass index, age of onset, age of surgery, disease duration, and the proportion of combined smoking history in the JAS group were significantly lower than those in the AAS group ( P<0.05), the proportion of bilateral surgeries, proportion of uveitis, proportion of combined family history, C-reactive protein, albumin, and preoperative BASFI were significantly higher than those in the AAS group ( P<0.05). Both groups were followed up. The follow-up time in the JAS group was 29-199 months, with an average of 113 months; in the AAS group was 35-199 months, with an average of 98 months. Incisions in both groups healed by first intention. During the follow-up period, there were 1 case of periprosthetic fracture, 1 case of dislocation, and 1 case of ceramic fragmentation in the JAS group, 1 case of periprosthetic infection and 6 cases of periprosthetic fracture in the AAS group. There was no significant difference in the incidence of complications between the two groups ( P>0.05). At last follow-up, the BASDAI, BASFI, SF-12 MCS, SF-12 PCS, and HHS score of the two groups were significantly improved when compared with those before operation ( P<0.05); but there was no significan difference in the difference of the above parameters before and after operation and the patient satisfaction between the two groups ( P>0.05).
UNASSIGNED: The midterm follow-up outcomes of THA for the treatment of JAS patients were reliable. A low age at disease onset did not exert a significant negative effect on THA reconstruction for the treatment of ankylosing spondylitis.
UNASSIGNED: 评估幼年发病型强直性脊柱炎（juvenile-onset ankylosing spondylitis，JAS）接受人工全髋关节置换术（total hip arthroplasty，THA）的中期临床随访结果。.
UNASSIGNED: 回顾性分析2004年1月—2018年3月的81例（127髋）JAS患者（年龄≤16岁，JAS组）和267例（391髋）成年发病型强直性脊柱炎（adult-onset ankylosing spondylitis，AAS）患者（年龄>16岁，AAS组）行THA手术重建的临床随访结果。常规收集患者术前基线人口学数据、临床参数、影像学参数和实验室数据；术前及末次随访时评价指标包括疾病整体活动度 ［巴氏强直性脊柱炎疾病活动指数（Bath ankylosing spondylitis disease activity index，BASDAI）］和功能状态 ［巴氏强直性脊柱炎功能指数（Bath ankylosing spondylitis functional index，BASFI）］，髋关节主观评分 ［Harris髋关节评分（HHS）］和客观评分 ［12项健康评估简表（SF-12），包括生理状态评分（PCS）和心理状态评分（MCS）］及患者满意度，同时记录随访期间出现的主要骨科并发症，包括假体周围感染、脱位、假体周围骨折、切口愈合不良。.
UNASSIGNED: 术前基线参数比较显示，JAS组体质量、身体质量指数、发病年龄、手术年龄、病程、合并吸烟史比例显著低于AAS组，双侧手术比例、葡萄膜炎比例、合并家族史比例、C反应蛋白、白蛋白及术前BASFI显著高于AAS组，差异均有统计学意义（ P<0.05）；其余基线参数比较差异均无统计学意义（ P>0.05）。两组患者均获随访，其中JAS组随访时间29～199个月，平均113个月；AAS组35～199个月，平均98个月。两组切口均Ⅰ期愈合。随访期间JAS组发生假体周围骨折1例、脱位1例以及陶瓷碎裂1例，AAS组发生假体周围感染1例、假体周围骨折6例，两组并发症发生情况比较差异无统计学意义（ P>0.05）。末次随访时两组BASDAI、BASFI、SF-12 MCS、SF-12 PCS及HHS评分均较术前显著改善（ P<0.05）；两组间比较上述各参数手术前后差值以及患者满意度差异均无统计学意义（ P>0.05）。.
UNASSIGNED: JAS患者在成人期接受THA重建的中期临床疗效确切，发病年龄过低对于AS患者的THA重建结果并未产生显著负面影响。.

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.

Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and <10% of cases suffer from adult-onset KD. In this study, two Chinese males presented with long-term progressive weakness in their limbs. Magnetic resonance imaging of the brain and spinal cord of these patients revealed lesions with abnormally high signal intensity on T2-weighted (T2W) and T2W fluid-attenuated inversion recovery images. Whole-exome sequencing was performed for both patients, and four GALC mutations were identified. Case 1 carried a novel deletion mutation (p.T633Tfs*2) and a known missense mutation (p.T529M), while case 2 carried a novel missense mutation (p.W355C) and a known missense mutation (p.P154H). Previous literature has rarely reported myelopathy in patients with KD; in this study, we report two cases of adult-onset KD who both experienced myelopathy. We also conducted a literature review of KD and its association with myelopathy. Our findings provide a better understanding of the phenotypic and genotypic profiles associated with adult-onset KD. We recommend that physicians consider KD as a possible diagnosis in cases showing progressive motor dysfunction or gait disorder in association with typical myelopathy.

Objective: This study was designed to evaluate the efficacy of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) for adult-onset primary hemophagocytic lymphohistiocytosis (HLH) . Method: A retrospective study was carried out to analyze the clinical data of 15 adult patients with primary HLH who received haplo-HSCT from January 2013 to October 2019 in Beijing Friendship Hospital, Capital Medical University, Beijing, China. Results: Among the 15 patients included in the study, ten were males and five were females, with a median age of 21 years old (18-52) . Eight of the patients had familial hemophagocytic lymphohistiocytosis type 2 (FHL-2) , four had FHL-3, one had Griscelli syndrome type 2 (GS-2) , one had X-linked lymphoproliferative disease type 1 (XLP-1) , and the other had XLP-2. The median time from HLH diagnosis to transplantation was 7 months (2-46 months) . Seven patients were treated with Bu/Cy condition regimen prior to transplantation. Meanwhile, the other eight cases were treated with TBI/Cy. The median concentration of mononuclear cell (MNC) infusion was 12.6 (9.2-20.3) ×10(8)/kg and CD34(+) cells was 4.91 (2.51-8.37) ×10(6)/kg. The median time of leukocyte engraftment was on day 13 following transplantation (10-23 days) , and the platelet engraftment was on day 12 (9-36) . Graft failure (GF) finally occurred in two patients (one primary GF and one secondary GF) . The cumulative incidence of acute graft-versus-host-disease (GVHD) grades 2 to 4 was 71.4% (10/14) and chronic GVHD was 30.8% (4/13) , respectively. The five-year overall survival (OS) for all 15 cases of primary HLH was 65.5% (95% CI, 34.9%-73.3%) and the transplant-related mortality (TRM) was 26.7% (4/15) . The five-year OS was 87.5% (95% CI, 38.7%-66.3%) in eight patients who received haplo-HSCT subsequent to initial therapy and 42.9% (95% CI, 8.5%-65.2%) in patients seven patients who needed salvage therapy prior to haplo-HSCT (χ(2)=2.387, P=0.122) . The five-year OS was 85.7% (95% CI, 50.4%-89.8%) in eight patients who achieved complete response before haplo-HSCT and 42.9% (95% CI, 6.4%-53.0%) in seven patients with partial response (χ(2)=3.185, P=0.074) . Conclusion: The results indicated that haplo-HSCT is a promising method for the treatment of primary HLH in adults.
目的： 探讨单倍型造血干细胞移植（haplo-HSCT）治疗成人原发性噬血细胞综合征（HLH）的疗效。 方法： 对2013年1月至2019年10月期间于首都医科大学附属北京友谊医院接受haplo-HSCT的15例成人原发性HLH患者进行回顾性分析。 结果： 全部15例患者中男10例、女5例，中位年龄21（18~52）岁。家族性噬血细胞综合征2型（FHL-2）8例，FHL-3 4例，Griscelli综合征2（GS-2）、X连锁淋巴组织增生综合征1型（XLP-1）、XLP-2各1例。确诊HLH至接受haplo-HSCT的中位时间为7（2~46）个月。所有患者移植前均接受HLH-94、HLH-2004或DEP方案诱导化疗，8例获得完全应答（CR），7例获得部分应答（PR）。移植预处理：Bu/Cy方案7例，TBI/Cy方案8例。输注单个核细胞12.6（9.2~20.3）×10(8)/kg，CD34(+)细胞4.91（2.51~8.37）×10(6)/kg。粒细胞植活中位时间为13（10~23）d，血小板植活中位时间为12（9~36）d。原发、继发性植入失败各1例。Ⅱ~Ⅳ度急性移植物抗宿主病（GVHD）发生率为71.4%（10/14），慢性GVHD发生率为30.8%（4/13）。移植后预期5年总生存（OS）率为65.5%（95%CI 34.9%~73.3%），移植相关死亡率为26.7%（4/15）。一线诱导治疗后立即接受移植（8例）、二线诱导治疗难治/复发患者（7例）的移植后预期5年OS率分别为87.5%（95%CI 38.7%~66.3%）、42.9%（95%CI 8.5%~65.2%）（χ(2)=2.387，P=0.122）。移植前CR（8例）、PR（7例）患者的移植后预期5年OS率分别为85.7%（95%CI 50.4%~89.8%）、42.9%（95%CI 6.4%~53.0%）（χ(2)=3.185，P=0.074）。 结论： haplo-HSCT是成人原发性HLH的有效治疗手段。.

BACKGROUND: Henoch-Schönlein purpura nephritis (HSPN) is a common vasculitis involving the kidneys, with a lower incidence in adults. Meanwhile, nephrotic syndrome (NS) can appear in HSPN. However, the clinicopathological features and renal outcome of adult-onset HSPN presenting with NS (NS-HSPN) have not been well clarified.
METHODS: A total of 191 HSPN patients were prospectively analyzed and comparisons were made between NS-HSPN and non-NS-HSPN. Multivariate Cox regression analysis was carried out to find the unfavorable factors of renal outcome of NS-HSPN.
RESULTS: Among the 191 patients, 44 (23.0%) had NS-HSPN. Apart from edema and abdominal pain, patients with NS-HSPN tended to have lower levels of erythrocytes and hemoglobulin in blood as well as a greater number of erythrocytes in urine (p < 0.05). Mesangial proliferation was the most common pathological lesion in HSPN and the rates of crescent formation were significantly different, with 54.5% in NS-HSPN and 33.3% in non-NS-HSPN (p < 0.05). Notably, 18.2 and 4.8% of patients reached the composite endpoints in the NS-HSPN and non-NS-HSPN groups, respectively (p < 0.05), demonstrating that NS-HSPN patients were more likely to progress to end-stage renal disease and had a worse outcome. We also found that hypertension, estimated glomerular filtration rate (eGFR), cystatin, and tubular atrophy/interstitial fibrosis (HR > 1, p < 0.05) at onset were correlated with adverse outcome in NS-HSPN.
CONCLUSIONS: NS-HSPN had more severe clinicopathological manifestations and poorer prognosis. The adverse predictors of NS-HSPN principally depend on clinicopathological presentation rather than on different therapies, and hypertension, eGFR, cystatin, and tubular atrophy/interstitial fibrosis can serve as independent risk factors in NS-HSPN.

BACKGROUND: Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features.
METHODS: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30. One year later, she had ataxia, bulbar paralysis, bowel and bladder urgency. Her mother had a similar neurological symptoms and died within 2 years after onset (at the age of 47), and her maternal aunt also had similar but mild symptoms at the onset age of 54-year-old. Her brain magnetic resonance imaging (MRI) showed abnormal signals in periventricular white matter with severe atrophy in the medulla oblongata and thoracic spinal cord, and mild atrophy in cervical spinal cord, which is unusual in the adult form of AxD. She and her daughter\'s glial fibrillary acidic protein (GFAP) gene analysis revealed the same heterozygous missense mutation, c.1246C > T, p.R416W, despite of no neurological symptoms in her daughter.
CONCLUSIONS: Our case report enriches the understanding of the familial adult AxD. Genetic analysis is necessary when patients have the above mentioned symptoms and signs, MRI findings, especially with family history.

BACKGROUND: Minimal change nephropathy is a common cause of primary nephrotic syndrome in adults. However, there are few studies of its clinical course, response to treatment, and long-term outcome.
METHODS: Retrospective cohort study.
METHODS: 340 consecutive adult patients with nephrotic syndrome and biopsy-proven minimal change nephropathy treated in a university hospital from 1984 until 2004.
METHODS: Treatment response groups: primary steroid resistance, frequent relapse (≥4 relapses within 1 year), infrequent relapse (≥1 relapse but not frequent relapse), and no relapse (reference group); disease pattern.
RESULTS: Medical problems after diagnosis; patient survival; renal survival.
RESULTS: Median time to remission was 10 (IQR, 8-12) weeks; 179 (52.6%) had no relapse, 42 (12.4%) had infrequent relapses, 86 (25.3%) were frequent relapsers or steroid dependent, and 33 (9.7%) had primary steroid resistance. After a median follow-up of 174.7 (IQR, 119.7-235.0) months, 32 patients developed end-stage renal disease and 62 died (25 after progression to end-stage renal disease). Cox regression analysis showed that age and treatment response groups were the independent predictors of patient survival. Compared to the no-relapse group, the infrequent-relapse group had significantly better patient survival (adjusted HR, 0.19; 95% CI, 0.08-0.44; P<0.001), whereas the primary-steroid-resistance group had significantly worse patient survival (adjusted HR, 5.87; 95% CI, 1.83-18.85; P<0.001). Renal survival was excellent except in the primary-steroid-resistance group.
CONCLUSIONS: Retrospective study.
CONCLUSIONS: A substantial proportion of adult patients with minimal change nephropathy continue to have disease flares more than 10 years after the initial presentation, and medical problems after diagnosis are common.

Studies have shown that early- and adult-onset schizophrenia patients differ in pre-morbid traits, illness presentation, psychopathology, and prognosis. We aimed to compare adult-onset patients (age range 26-55 years) with an adolescent-onset cohort (15-25 years) in demographics, illness presentation and functioning at baseline. Participants were from two territory-wide early intervention services for adolescent-onset (n=671) and adult-onset psychosis patients (n=360) in Hong Kong. The adolescent-onset cohort had their initial psychotic episode from 2001-2003; retrospective data collection was done through systematic case note review. The adult-onset cohort was recruited for a larger interventional study from 2009-2011; information was collected via face-to-face interviews. Adult-onset psychosis was significantly associated with more females, more smokers, more non-local birth, more full-time employment, better functioning, poorer medication adherence, more psychiatric hospitalization and fewer with schizophrenia than adolescent-onset psychosis (mean age: 20.4). The effect sizes were small, except for medication adherence where a robust effect was found. No group difference in DUP was found. The finding that adult-onset patients had better functioning challenges the view that adolescent- and adult-onset psychoses share a similar prognostic trajectory. Implications for adapting intervention processes for adolescent- and adult-onset psychosis are discussed.