Efficacy of acitretin in the treatment of reactive neutrophilic dermatoses in adult-onset immunodeficiency due to interferon-gamma autoantibody

Reactive neutrophilic dermatoses in adult-onset immunodeficiency due to interferon-γ autoantibody (AOID) are usually associated with concomitant active opportunistic infections. Data focusing on the treatment of these dermatoses with non-immunosuppressive drugs are still lacking. The aim of this study was to assess the efficacy and safety of acitretin treatment of reactive neutrophilic dermatoses in AOID. We conducted a retrospective review of all patients with AOID who had reactive neutrophilic dermatoses and had been treated with acitretin from January 2008 to December 2018. In total, 23 patients had been diagnosed with AOID, with 27 episodes of reactive neutrophilic dermatoses (20 episodes of Sweet syndrome and seven episodes of generalized pustular eruption) and treated with acitretin. The median effective dose of acitretin was 10 mg/day. The mean initial response was 5.6 ± 2.3 days. The rash had almost or completely cleared within 2 weeks in 70.4% of patients. One case had developed a reversible acitretin-induced liver injury with hepatocellular pattern. The median total duration of treatment was 3 months. In conclusion, this study demonstrates the potential role of acitretin as one of the treatments of choice for reactive neutrophilic dermatoses in AOID, attributable to its favorable response and good tolerability.     

A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation

ABSTRACT

Neuroimaging and genomic analysis greatly aid in the identification of young-onset dementia antemortem. We present the case of a 33-year-old female with a 2-year rapid decline to dementia and immobility marked by personality change, executive deficits including compulsions, attention deficit, apraxia, Parkinsonism, and pyramidal signs. She had unique and dramatic calcifications and confluent white matter changes on imaging and was found to have a novel mutation in the colony stimulating factor 1 receptor gene causing adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Here, we review ALSP and briefly discuss differential diagnoses.     

Childhood- and adult-onset lupus: an update of similarities and differences

Systemic lupus erythematosus (SLE) is a multifactorial autoimmune rheumatic disease. Although its highest prevalence is among women of childbearing age, the disease is not confined within this population. A total of 15–20% of cases of SLE are diagnosed in children younger than 16 years (childhood-onset lupus). Although there have been few studies directly comparing childhood- to adult-onset lupus, there is substantial evidence to suggest that pediatric lupus patients display some differences in their disease profile compared with adult-onset populations. Overall, an increased male-to-female ratio, a higher prevalence of nephritis and CNS involvement necessitating a more sustained need for steroids and immnosuppressive drugs, and a higher prevalence of progression to end-stage renal disease are distinguishing features of childhood-onset lupus. In contrast, a higher prevalence of pulmonary involvement, arthritis and discoid lupus are reported in adult-onset SLE patients. Furthermore, childhood-onset lupus patients may experience a serious negative impact on their psychosocial and physical development, issues that pose extra challenges to healthcare providers. Growth delay, osteoporosis, the psychological effect of steroid-induced alterations of the physical image, and often poor treatment compliance are the issues that need to be addressed in pediatric lupus populations. In this review, we compare the epidemiological, clinical and laboratory features, and treatment options of childhood- and adult-onset lupus, and comment on the applicability of the instruments that measure activity, severity and cumulative disease damage in childhood-onset disease. In addition, we highlight special issues of concern for pediatric lupus patients, discussing the significance in the transition from pediatric to adult rheumatology care.     

重组人生长激素在成人生长激素缺乏症的应用

近20年来,重组生长激素已可以无限量的制备。近年来的研究已阐明成人生长激素缺乏的影响及生长激素替代治疗的益处。成人生长激素缺乏症对人影响最大的是生活质量、骨骼健康及包括血清脂质谱、身体构成变化的心血管危险因子的改变,而这也正是生长激素替代治疗获益最显著之处。大量的证据显示了重组人生长激素治疗的疗效,尤其在改善骨代谢和改善心血管危险因素等多方面发挥作用,并且是安全的。     

成人斯蒂尔病与巨噬细胞活化综合征关联性的临床分析

目的 探讨成人斯蒂尔病(AOSD)与巨噬细胞活化综合征(MAS)的关系.方法 选择AOSD组为78例资料完整的AOSD;MAS组是从26例有组织学证据的噬血细胞综合征的随访治疗中确定11例为风湿免疫疾病相关的噬血细胞综合征.对以上患者的临床表现和实验室资料进行分析.结果 在AOSD组78例中,有9例(占12%)在使用治疗之前可以诊断为MAS,但无噬血组织学依据.在11例有噬血现象的MAS中,AOSD 6例,脂膜炎2例,系统性红斑狼疮、皮肌炎、系统性血管炎各1例.脾脏肿大、白细胞减低、贫血、血小板下降、高甘油三酯是AOSD出现MAS的相关临床指标.结论 AOSD继发MAS的现象比较常见,严重者可以有组织学的噬血表现.AOSD出现脾脏增大、血细胞降低时,需要作MAS的相关检查,包括骨髓检查以及甘油三酯、纤维蛋白原、自然杀伤(NK)细胞活性等,以便及时诊断MAS.     

儿童和成人斯蒂尔病临床比较

目的探讨儿童和成人斯蒂尔病的临床特征、诊断、治疗和转归。方法回顾分析确诊的44例儿童斯蒂尔病(sJIA)和112例成人斯蒂尔病(AOSD)的临床表现、实验室检查、治疗和预后。结果AOSD和sJIA在病程和男女发病比例上差异无统计学意义。发热、关节痛和皮疹是二者最常见的症状。成人患者咽痛、皮疹、肌痛、肺组织受累、胸膜病变比例高于儿童,儿童肝肿大比例高于成人。白细胞增多见于大部分患者,儿童血小板增多比例高于成人,而血清铁蛋白升高率低于成人。AOSD和sJIA在治疗方案选择和病情转归方面差异无统计学意义。非甾体消炎药(NSAID)对某些轻中度的患者有一定效果,但多数情况下需合用激素,甚至免疫抑制剂,其中首选甲氨蝶呤。结论AOSD和sJIA均是以发热、皮疹、关节痛和白细胞增多为主要表现的自身免疫性疾病,预后良好,但部分患者可反复发作或呈慢性持续性。多数患者对激素治疗有效,但对以关节炎表现为主以及合并内脏损害的患者应尽早加用免疫抑制剂,以控制病情、减少复发和关节畸形。     

High carbohydrate diet in the treatment of diabetes mellitus

Summary Restriction of carbohydrate in the diet of diabetics is widely advocated and practised in the Western Countries, but poses a special problem in the treatment of vegetarian diabetic patients in India, since cereals like wheat and rice constitute the major bulk of their diet. Drastic changes in the diet may be needed to curtail carbohydrate intake. 25 adult-onset diabetic patients were therefore allowed to eat their customary diet, and the control of their diabetes was studied. Restrictions were made only in the total caloric intake, where needed, by curtailing fats. The average carbohydrate consumption was 342 g, constituting 67% of the average total caloric intake. Prompt and adequate clinical and biochemical control of diabetes could be achieved by a moderate dose of oral hypoglycaemie agents or insulin, and maintained during their followup period of 6 months to 8 years without any difficulty despite their high carbohydrate intake. Avantages of such a diet are enumerated.

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Kohlenhydratreiche Diät in der Behandlung des Diabetes mellitus

Zusammenfassung Die Einschränkung der Kohlenhydrate in der Diät des Diabetikers wird in den Ländern des Westens viel empfohlen und geübt; sie bietet aber bei der Behandlung von diabetischen Vegetariern in Indien spezielle Probleme, da bei ihnen Getreideprodukte wie Weizen und Reis den überwiegenden Teil der Diät ausmachen. Eine Einschränkung der Kohlenhydratzufuhr würde daher bei diesen Patienten auf eine ausgesprochen drastische Umstellung der Diät hinauslaufen. Bei 25 Diabetikern vom Erwachsenen-Typ wurde daher die Einstellung des Diabetes kontrolliert, während sie ihre gewohnte Kost beibehielten. Soweit eine Kalorieneinschränkung erforderlich war, erfolgte sie durch Verringerung der Fettzufuhr. Der durchschnittliche Kohlenhydratverbrauch belief sich dabei auf 342 g, d.h. 70% der mittleren Kalorienaufnahme/Tag. Trotz der hohen KH-Zufuhr ließ sich bei diesen Patienten ohne Schwierigkeiten mit mittleren Dosen von oralen Antidiabetika oder Insulin eine gute Diabetes-Einstellung während der Untersuchungsperiode, die sieh über 1/2–8 Jahre ausdehnte, erzielen. Die Vorteile einer derartigen Diät werden aufgeführt.

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Alimentation riche en hydrates de carbone au cours du traitement du diabète sucré

Résumé La restriction des hydrates de carbone dans le régime des diabétiques est largement recommandée et pratiquée dans les pays occidentaux, mais pose un problème particulier dans le traitement des diabétiques végétariens en Inde, car les céréales telles que le blé et le riz constituent la majeure partie de leur régime. Des changements énergiques dans le régime peuvent être nécessaires pour diminuer la prise d'hydrates de carbone. 25 diabétiques adultes ont donc été autorisés à suivre leur régime habituel, et l'équilibre de leur diabète a été étudié. Les restrictions étaient faites seulement dans l'apport calorique total, quand cela était nécessaire, par réduction des matières grasses. La consommation moyenne d'hytrates de carbone était de 342 g, constituant 67% de l'apport calorique total moyen. Un bon contrôle clinique et biochimique du diabète pouvait être réalisé par l'administrationd'une dose modérée d'agents hypoglycémiants oraux ou d'insuline, et maintenu sans difficulté pendant la période d'observation allant de 6 mois à 8 ans, malgré l'apport élevé d'hydrates de carbone. Les avantages d'un tel régime sont énumérés.

     

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients

Abstract. Spinal muscular atrophy (SMA) is an autosomal recessive motor neuropathy characterized by selective degeneration of anterior horn cells of the spinal cord. Childhood SMA is divided into three types (I–III) on the basis of age of onset and severity. These disorders have been linked to the 5q13 region, where mutations in the Survival Motor Neuron 1 (SMN1) gene have been found in affected individuals. In the case of adult-onset SMA (type IV), on the other hand, reports of homozygous absence of SMN1 gene have been rare. We conducted deletion analysis of SMN and a neighboring gene, NAIP (neuronal apoptosis inhibiting protein). Among 54SMA patients (types I–IV), all of Moroccan origin, Exon 7 of the SMN1 gene was homozygously absent in 100% of type I, 90% of type II, 74% of type III and 80% of type IV SMA patients. Deletion of SMN1 exon 8 was detected in 100% of type I, 53% of type II, 53% of type III and 80% of type IV patients. NAIP exon 5 was homozygously deleted in 67% of type I, 32% of type II, 5% of type III and 20% of type IV SMA patients. Thirty control individuals who were studied had normal SMN1 and NAIP genes. Our results show a high incidence of SMN1 gene deletion in adult-onset SMA patients indicating that SMN1 is the autosomal recessive adult SMA-causing gene. While NAIP is commonly deleted in SMA, this is unlikely to affect disease severity; it was deleted in two adult SMA patients with mild phenotypes.     

成人Still病临床分析

目的探讨成人Still病的临床特点。方法回顾性分析第十人民医院呼吸科1985～2008年间确诊的资料完整的23例成人Still病患者的临床资料。结果临床表现为发热23例,皮疹20例,四肢肌肉关节酸痛17例,以及咽痛,淋巴结肿大,肝脾肿大,尿蛋白,尿隐血等。实验室检查：白细胞总数均高于正常,贫血20例,c反应蛋白均升高,类风湿因子多数阴性。血清谷丙谷草转氨酶升高13例,全部患者多次血培养均阴性。15例患者作了骨髓穿刺,均为感染性骨髓象,骨髓细菌培养阴性。治疗上首选糖皮质类固醇激素和非甾体类消炎药,酌情加用免疫抑制剂,23例患者均获得缓解,疗程2周～4个月不等,其中2例患者分别在1年及16年后症状复发,再次使用激素后症状缓解。结论成人Still病临床表现复杂,容易误诊,多数预后较好,但可能复发加重,应加强随访。