Stem cell therapy in stargardt disease: a systematic review

This article aimed to review current literature on the safety and efficacy of stem cell therapy in Stargardt disease. A comprehensive literature search was performed, and two animal and eleven human clinical trials were retrieved. These studies utilized different kinds of stem cells, including human or mouse embryonic stem cells, mesenchymal stem cells, bone marrow mononuclear fraction, and autologous bone marrow-derived stem cells. In addition, different injection techniques including subretinal, intravitreal, and suprachoroidal space injections have been evaluated. Although stem cell therapy holds promise in improving visual function in patients with Stargardt disease, further investigation is needed to determine the long-term benefits, safety, and efficacy in determining the best delivery method and selecting the most appropriate stem cell type.

Juvenile Huntington's disease in northern Brazil: a case series report / Doença de Huntington juvenil no norte do Brasil: relato de uma série de casos

Introduction: Huntington's disease (HD) is a neurodegenerative disorder caused by CAG expansion repeats in the HTT gene. Usually, the symptoms start to manifest in mid-adulthood. In about 5% of cases, however, the signs begin before the age of 20 years. These cases are known as juvenile HD (JHD). Objective: here we report a case series of JHD from Amazonas, a state where data are scarce due to the restricted access to specialized medical assistance for diagnosis and care. Case series: the patients were attended by neurologists specialized in movement disorders at Manaus. Two cases manifested the disease in childhood (6 and 7 years old) and two cases, in adolescence (12 and 16 years old). All cases showed dystonia and parkinsonism as predominant motor disorders. Moreover, signs of cognitive decline, depression, and psychosis were observed in all patients. Conversely, cerebellar signs, gait disturbances, seizures, and some psychiatric symptoms were variable among the cases. Expansion size varied from 66 to 84 to CAG repeats and the difference in age at onset between parent and child varied from 23 to 43 years. Conclusion: to our knowledge, these are the first clinical reports of JHD in northern Brazil. These cases illustrate the variability in clinical phenotypes and genetic features of JHD cases. Furthermore, they can contribute to the awareness of HD here, both by professionals and the public in general.

Introdução: a doença de Huntington (DH) é um distúrbio neurodegenerativo causado pela expansão de repetições CAG no gene HTT. Geralmente, os sintomas começam a se manifestar na vida adulta tardia. Em cerca de 5% dos casos, no entanto, os sinais começam antes da idade de 20 anos. Esses casos são conhecidos como DH juvenil (DHJ). Objetivo: neste estudo, nós reportamos uma série de casos de DHJ do Amazonas, um estado onde os dados ainda são escassos devido ao acesso restrito à assistência médica especializada para o diagnóstico e cuidado. Série de casos: os pacientes foram atendidos por neurologistas especializados em transtornos do movimento em Manaus. Dois casos manifestaram a doença na infância (6 e 7 anos) e dois casos, na adolescência (12 e 16 anos). Todos os casos apresentaram distonia e parkinsonismo como sintomas motores predominantes. Sinais de declínio cognitivo, depressão e psicose também foram observados em todos os pacientes. Por outro lado, sinais cerebelares, distúrbios da marcha, convulsões e alguns sintomas psiquiátricos foram variáveis entre os casos. O tamanho da expansão CAG variou de 66 a 84 repetições e a diferença na idade de início dos sintomas entre pais e filhos variou de 23 a 43 anos. Conclusão: ao nosso conhecimento, estes são os primeiros relatos clínicos da DHJ na região Norte. Esses casos ilustram a variabilidade nos fenótipos clínicos e nas características genéticas dos casos de DHJ. Além disso, eles podem contribuir para a conscientização da DH na região, tanto pelos profissionais quanto pelo público geral.

Risk factors of ankylosing spondylitis with premature coronary heart disease / 中华风湿病学杂志

Objective:To analyze the risk factors of patients with ankylosing spondylitis (AS) combined with premature coronary atherosclerotic heart disease (PCAD).Methods:A total of 74 patients with AS and coronary atherosclerotic heart disease (CAD) in Peking Union Medical College Hospital from January 1983 to July 2021 were enrolled. According to the age of onset of coronary heart disease, the 74 patients were divided into PCAD group and NPCAD (non-premature coronary heart disease) group. T test and Chi square test were used to analyze the data of the two groups, the risk factors for AS-PCAD were analyzed by multivariate Logistic regression. Results:① There were 37 cases in the PCAD group and 37 cases in the NPCAD group. In the PCAD group, there were 28 men and 9 women; wherease all were men in the NPCAD group. The difference was statistically significant ( χ2=10.25, P=0.001). ② Compared with the NPCAD group, the age of AS-PCAD group was younger [(23±10) years vs (29±12) years, t=-2.28, P=0.026], and the course from AS to CAD was shorter [(25±10) years vs (34±13) years, t=-3.00, P=0.004], hemoglobin (Hb) level was lower [(122±23) g/L vs(132±18) g/L, t=2.10, P=0.039], rate of anemia was higher [38.5%(14/37) vs 16.2%(6/37), χ2=4.39, P=0.037]. Proportion of increased C-reactive protein (CRP) was higher [65.5%(19/29) vs 35.5%(11/31), χ2=5.41, P=0.019]. ③ Juvenile onset AS (JoAS)[ OR(95% CI)=3.45(1.31, 9.10), P=0.012] and high levels of CRP [ OR (95% CI)=3.68 (1.44, 9.40), P=0.006] might berisk factors of AS-PCAD by multiple logisctic regression analysis. Conclusion:Patients with AS have a higher probability of PCAD, especially in those patients with JoAS, persistent inflammation and anemia. It is necessary to be alert to the risk of PCAD and early screening.

Manifestaciones relacionadas con alteraciones en la coagulación en lupus eritematoso sistémico de inicio juvenil. Reporte de casos y revisión de la literatura / Manifestations related to alterations in coagulation in systemic lupus erythematosus of juvenile onset. Case report and literature review

RESUMEN Las alteraciones hematológicas son comunes en los pacientes con lupus eritematoso sistémico (LES). Pueden expresarse relacionadas con el compromiso de las líneas celulares y con la presencia de alteraciones de la coagulación. El compromiso en la coagulación se asocia con manifestaciones trombóticas. Se han descrito factores de riesgo asociados a trombosis, como la presencia de niveles elevados de homocisteína, déficit adquirido de la proteína S, proteína C y antitrombina. Sin embargo, la diátesis hemorrágica también se ha descrito con menor frecuencia y relacionada con el déficit de factores de la coagulación, secundaria a la presencia de inhibidores. Presentamos 3 pacientes con LES juvenil con manifestaciones hematológicas poco usuales y revisión de la literatura relacionada. Se concluye que las manifestaciones hematológicas en LES juvenil no solo se relacionan con alteraciones en las líneas celulares. Trombosis vasculares y trastornos hemorrágicos deben sospecharse. El diagnóstico precoz y el tratamiento temprano disminuyen la morbimortalidad relacionada con este tipo de manifestaciones.

ABSTRACT Haematological alterations are common in patients with systemic lupus erythematosus (SLE). These haematological manifestations may be expressed related to the involvement of cells affected and coagulation changes. The compromise in coagulation is associated with thrombotic manifestations. Risk factors associated with thrombosis have been described, such as the presence of elevated levels of homocysteine, acquired deficit of protein S, protein C, and antithrombin. However, the haemorrhagic diathesis has also been described at a lower frequency and related to the acquired deficiency of coagulation factors caused by the development of autoantibodies directed against coagulation factors. The cases are presented of 3 patients with juvenile SLE with unusual haematological manifestations, as well as a review of the literature in relation to them. The haematological manifestations in juvenile SLE are not only related to alterations in cell lines, vascular thrombosis and bleeding disorders should also be suspected. Early diagnosis and treatment reduces morbidity and mortality related to this type of manifestations.

Juvenile-onset Huntington’s Disease: A Rare Case Report

Juvenile-onset Huntington’s disease (JHD) is a rare autosomal dominant neurodegenerative disorder of the central nervoussystem characterized by the presence of abnormal involuntary movements, rigidity, and ataxic gait. We are presenting a rarecase of a 9-year-old male who was referred to the Radiology Department of Gandhi Medical College and Hamidia Hospital formagnetic resonance imaging (MRI) brain with complaints of progressive impairment of gait, bradykinesia, and marked posturalinstability for the past 2 years. The patient also had a history of episodes of seizures for 4 years. MRI findings revealed: Atrophyof bilateral caudate nuclei and putamina of basal ganglia.

Correlation between the HPV type and clinical course of juvenile onset recurrent respiratory papillomatosis / 中国耳鼻咽喉头颈外科

OBJECTIVE To study on the influence of human papilloma virus(HPV) type on the clinical course of juvenile onset recurrent respiratory papillomatosis(JORRP).METHODS Fresh tumor specimens of 38 patients were collected and the HPV type of the specimens was detected by flow fluorescent hybridization method.According to the results,children were divided into HPV6 and HPVll positive groups.The clinical data of the two groups were compared.RESULTS Among 38 children with recurrent respiratory papillomatosis,21(55.2％) were infected with HPV6,14(36.8％) were infected with HPVll,and 3(7.9％) were negative for HPV 6 or HPV 11.The proportion of aggressive cases in HPV6 and HPV11 groups were similar.The age of onset,preoperative clinical symptom score,number of anatomic locations,anatomic Derkay/Coltrera score and Dikkers score were significant different between the two groups (P=0.002,0.040,0.023,0.001,0.005,respectively).CONCLUSION JORRP patients with HPV11 infection had the features of smaller onset age,more severe clinical symptoms and broader invasion compared with HPV6 infection.

Influence of atopy on prognosis of juvenile-onset systemic lupus erythematosus / 中华实用儿科临床杂志

Objective To evaluate the influence of atopy on the prognosis of juvenile-onset systemic lupus erythematosus (JSLE).Methods The study was performed on 60 cases with JSLE diagnosed at the Department of Pediatrics,Renji Hospital Affiliated to School of Medicine of Shanghai Jiaotong University from October 2005 to April 2015.These patients were enrolled by mixed cohort study and subdivided into atopic group(26 cases) or non-atopic group(34 cases).The clinical and laboratory data of the disease onset,disease assessment scores,medications during follow-ups and remission/flare of the disease were recorded and analyzed to compare the difference between 2 groups.Results (1) The systemic lupus erythematosus disease activity index (SLEDAI) score [(17.080 ± 5.628) scores vs (12.590 ± 4.856) scores],anti-double-stranded DNA (anti-dsDNA) [(62.590 ± 43.602) IU/mL vs (40.230 ±30.189) IU/mL],erythrocyte sedimentation rate (ESR) [(59.150 ± 40.315) mm/1 h vs (40,350 ± 31.865)mm/1 h] were significantly elevated at onset in the atopic group compared with non-atopic controls (all P ＜ 0.05),while the complement C3[(0.450 ±0.218) g/L vs(0.640 ±0.333) g/L],C4 [(0.047 ±0.024) g/L vs(0.116 ±0.172) g/L] in atopic group was lower than those in the non-atopic group (all P ＜ 0.05).(2)During the follow ups of 1 and 6 months to 1 year,the JSLE patients with atopy always had higher SLEDA1 score compared with the non atopic controls(all P ＜ 0.05).(3)For medications,the daily cumulative glucocorticoid dose received by patients in the atopic group were larger than that of the non-atopic group,and the number of immunosuppressive agents used in the atopic group was more than that in the non-atopic controls (P ＜ 0.05).(4) During the 1-year follow-up,the rate of disease relapse in the atopic group was higher than that in the non-atopic group and the atopic group also needed much more time to reach disease remission (P ＜ 0.05).Conclusion JSLE patients combined with atopy may have an adverse influence on the prognosis of JSLE.

Analysis on novel mutations in GAA gene of a Chinese family with two siblings affected with juvenile onset form glycogen storage disease Ⅱ / 重庆医学

Objective To identify a novel pathogenicity mutation of acid alpha‐glucosidase(GAA) gene in a Chinese family with two siblings affected with juvenile onset form glycogen storage disease Ⅱ(GSD Ⅱ) .Methods The clinical and family data of two siblings presenting recurrent respiratory tract infections ,respiratory failure associated with systemic muscle weakness ,were an‐alyzed and diagnosed with GSD Ⅱ by detecting alpha‐1 ,4‐glucosidase activity .DNA was extracted from peripheral blood of the proband ,younger brother and his parents .All 20 exons and the intron‐exon splice sites of GAA gene were amplified by polymerase chain reaction (PCR) .Mutations were detected by direct sequencing the PCR products .Results The younger brother was found to be compound heterozygous for two mutations in the GAA gene :c .1216G>A (p .Asp406Asn) missense mutation in the exon 8 from his father and c .1935C>A (p .Asp645Glu) missense mutation in the exon 14 from his mother .Conclusion The compound hetero‐zygous c .1216G>A and c .1935C>A mutations caused the juvenile onset form GSD Ⅱ characterized by dyspnea and cardiac hyper‐trophy .The novel c .1216G>A mutation may be related to the juvenile onset form GSD Ⅱ .

Clinical Characteristics of Juvenile-onset Open Angle Glaucoma

PURPOSE: To demonstrate the clinical characteristics of juvenile-onset open angle glaucoma (JOAG) and to evaluate the prognostic factors for visual field (VF) progression in eyes with JOAG. METHODS: The medical records of 125 eyes of 72 patients with JOAG were analyzed retrospectively. At least four reliable VF tests were required to determine the VF progression, and the progression was defined using the modified Anderson criteria. Comparisons in clinical manifestations among groups were performed using independent t-test, and generalized estimating equations were also conducted. RESULTS: The mean follow-up duration was 94.4 ± 50.5 months. Patients with JOAG showed a male preponderance (64 %), myopia (−4.99 ± 4.01 diopters) and a severe elevation of intraocular pressure (35.6 ± 10.8 mmHg). Forty-two JOAG patients (58 %) had complained of symptoms associated with vision and pain; however, one-third presented with no definite symptoms. Fifty-seven patients were diagnosed with JOAG in both eyes, and they were significantly older (p = 0.039) and had a greater family history (p = 0.035) than patients with unilateral JOAG. The progression group exhibited a significantly higher intraocular pressure at the last visit (p = 0.023) than the non-progression group. CONCLUSIONS: Because patients with considerable JOAG had no definite symptoms, periodic eye examinations are needed. To prevent the VF's progression, JOAG patients may require more careful management of intraocular pressure.

Are Indian patients with juvenile-onset ankylosing spondylitis taller than reference population.

Background & objectives: Paucity of growth retardation has been observed by us in patients with juvenile-onset ankylosing spondylitis (JAS) in a tertiary care health centre in south India. We, therefore, undertook this pilot study to assess and compare anthropometry of patients with JAS who were 15 yr and older with that of adult onset ankylosing spondylitis (AAS) and matching Indian reference population. Methods: Consecutive male patients (December 2009- October 2012) with JAS and AAS fulfilling Modified New York Criteria were selected after applying inclusion and exclusion criteria. Demography and anthropometry were noted. Height of both patient groups as well as their parents and siblings were compared with that of the reference population. Mid-parental height and delta height were derived. Those with delta height of >8.5 cm were compared with the remaining. Multivariate logistic regression was done for variables that were found to be significant by chi-square in bivariate analysis. Similar analysis was done for BMI also. Results: There was no significant difference in anthropometric variables between JAS and AAS groups. Twenty eight of the 30 (93.33%) JAS patients were taller as compared to the reference population. Twenty six (86.67%) AAS patients were taller than the reference population. The mean heights of JAS (170.67 ± 6.94 cm) and AAS (168.2 ± 5.94 cm) patients were significantly higher than the reference value of 163.11 cm; both p<0.001. Logistic regression revealed that tallness in JAS was associated positively with hypermobility (OR=23.46,95%CI 1.2-447.2, p=0.036). No significant association was detected for height in AAS and for BMI in both JAS and AAS groups. Interpretation & conclusions: No growth retardation was seen in patients with JAS in our study. Majority of patients with JAS and AAS were taller than reference population. The difference between mean height of JAS and AAS was not significant. Larger studies involving different populations are required to confirm these findings.

Perfil epidemiológico da espondiloartrite de início juvenil comparada com a espondiloartrite de início na vida adulta em uma grande coorte brasileira / Epidemiologic profile of juvenile-onset compared to adult-onset spondyloarthritis in a large Brazilian cohort

Objetivo Analisar as características clínicas e epidemiológicas das espondiloartrites (EpA) de início juvenil (< 16 anos) e compará-las com um grupo de pacientes com EspA de início na vida adulta (≥ 16 anos). Pacientes e métodos Coorte prospectiva, observacional e multicêntrica com 1.424 pacientes com diagnóstico de EspA de acordo com o European Spondyloarthropathy Study Group (ESSG) submetidos a um protocolo comum de investigação e recrutados em 29 centros de referência participantes do Registro Brasileiro de Espondiloartrites (RBE). Os pacientes foram divididos em dois grupos: idade no início<16 anos (grupo EspAiJ) e idade no início ≥ 16 anos. Resultados Entre os 1.424 pacientes, 235 manifestaram o início da doença antes dos 16 anos (16,5%). As variáveis clínicas e epidemiológicas associadas com a EspAiJ foram: gênero masculino (p<0,001), artrite em membro inferior (p=0,001), entesite (p=0,008), uveíte anterior (p=0,041) e HLA-B27 positivo (p=0,017), em associação com escores mais baixos de atividade da doença (Bath Ankylosing Spondylitis Disease Activity Index – BASDAI; p=0,007) e de capacidade funcional (Bath Ankylosing Spondylitis Functional Index – BASFI; p=0,036). A psoríase cutânea (p<0,001), a doença inflamatória intestinal (p=0,023), a dactilite (p=0,024) e o envolvimento ungueal (p=0,004) foram mais frequentes em pacientes com EspA de início na vida adulta. Conclusões Nessa grande coorte brasileira, os pacientes com EspAiJ se caracterizavam predominantemente pelo gênero masculino, envolvimento periférico (artrite e entesite), HLA-B27 positivo e escores de doença mais baixos. .

Objective To analyze the clinical and epidemiologic characteristics of juvenile-onset spondyloarthritis (SpA) (< 16 years) and compare them with a group of adult-onset (≥ 16 years) SpA patients. Patients and methods Prospective, observational and multicentric cohort with 1,424 patients with the diagnosis of SpA according to the European Spondyloarthropathy Study Group (ESSG) submitted to a common protocol of investigation and recruited in 29 reference centers participants of the Brazilian Registry of Spondyloarthritis (RBE – Registro Brasileiro de Espondiloartrites). Patients were divided in two groups: age at onset<16 years (JOSpA group) and age at onset ≥ 16 years (AOSpA group). Results Among the 1,424 patients, 235 presented disease onset before 16 years (16.5%). The clinical and epidemiologic variables associated with JOSpA were male gender (p<0.001), lower limb arthritis (p=0.001), enthesitis (p=0.008), anterior uveitis (p=0.041) and positive HLA-B27 (p=0.017), associated with lower scores of disease activity (Bath Ankylosing Spondylitis Disease Activity Index – BASDAI; p=0.007) and functionality (Bath Ankylosing Spondylitis Functional Index – BASFI; p=0.036). Cutaneous psoriasis (p<0.001), inflammatory bowel disease (p=0.023), dactylitis (p=0.024) and nail involvement (p=0.004) were more frequent in patients with adult-onset SpA. Conclusions Patients with JOSpA in this large Brazilian cohort were characterized predominantly by male gender, peripheral involvement (arthritis and enthesitis), positive HLA-B27 and lower disease scores. .

Determinants of severity at presentation among young patients with early onset glaucoma.

Aim: The aim of this study was to evaluate the clinical, socio‑economic, and demographic factors associated with the severity at presentation among juvenile primary open angle glaucoma (JOAG) patients. Materials and Methods: Age at diagnosis, family history, baseline intraocular pressure (IOP), access to health‑care, socio‑economic status, and glaucoma awareness among 80 unrelated JOAG patients presenting between 10 years and 40 years of age were analyzed for their association with the severity at presentation. Severity at presentation was graded based on worse eye visual field using the advanced glaucoma intervention study score and on binocular visual field defects at presentation. Results: Patients with a positive family history presented 4 years earlier (P = 0.045, confidence interval [CI]: 0.09‑8.8) compared to those without a family history. Lower socio‑economic status (Odds ratio [OR] 5.7, P = 0.01, CI: 1.5‑22), and higher baseline IOP (OR 7, P = 0.003, CI: 1.9‑26) were associated with severe glaucomatous visual field defect at presentation. A negative family history was associated with a 10 times likelihood of presenting with a severe glaucomatous field defect (OR 0.1, P = 0.007, CI: 0‑0.5). Conclusions: Clinical, socio‑economic, and demographic factors are contributory to the severity at presentation among young patients with early onset glaucoma. Presence of a family history is associated with an earlier presentation among these patients and a reduced risk of the severe presentation

Patología inflamatoria de columna en niños y adolescentes / Inflammatory spine pathology in children and adolescents

Chronic inflammatory axial pain is an uncommon pediatric syndrome, brings a number of diseases affecting the axial skeleton. It is characterized by unknown etiology, with recognizing genetic susceptibility factors. The medical clinician should be performed to establish the diagnosis, making accurate therapy for long-term success and working to get a good quality of life. Current classifications established for children and young patients forms are limited by the pediatric medical short follow-up age. Two international classifications (a) International League of Associations for Rheumatology and (b) Classification of juvenile spondyloarthropathies Spondylarthropathy European group Study Group to achieve approximate diagnosis for pediatric rheumatology forms. The adult rheumatologist usually who will establish the definitive diagnosis and prognosis. The chronic inflammatory axial pain needs an unification of classification criteria for children and adults in order to facilitate the scientific communication and medical transition.

El dolor axial inflamatorio crónico es una entidad infrecuente en Pediatría, y agrupa una serie de patologías que afectan el esqueleto axial. este grupo de enfermedades son de etiología aún desconocida, reconociendo factores de susceptibilidad genética en ellas. Su importancia está en el enfoque que el clínico debe realizar para establecer el diagnóstico, realizar una terapia precoz para obtener buenos resultados a largo plazo y procurar que el paciente obtenga una buena calidad de vida. Las clasificaciones actuales establecidas para las formas infantojuveniles se ven limitadas por lo breve del periodo de seguimiento etario, además que se hace necesario aplicar dos clasificaciones internacionales (a) International League of Associations for Rheumatology y (b) Clasificación de Espondiloartropatías Juveniles del European Spondyloarthropathy Study Group para lograr el diagnóstico aproximado. Es necesario considerar que en muchos casos será el reumatólogo de adultos quien establecerá el diagnóstico y pronóstico definitivo. Se reconoce que este grupo de patología inflamatoria crónica requiere unificación de criterios de clasificación en niños y adultos para facilitar la comunicación científica y de transición.

Effects of Duration of Diabetes on Behavioural and Cognitive Parameters in Streptozotocin-Induced Juvenile Diabetic Rats

Background: Diabetic encephalopathy is a recently recognised complication of early-onset type 1 diabetes in children. The abnormalities underlying diabetic encephalopathy are complex and poorly understood, and the impact of disease duration on behavioural and cognitive parameters also remains unclear. Hence, the present study was conducted to determine the effects of different durations of hyperglycaemia on behavioural and cognitive parameters in young streptozotocin-induced diabetic rats. Methods: Diabetes was induced in young, weaned, age-matched rat pups by streptozotocin injection (50 mg/kg body weight, intraperitoneally). Diabetic status was confirmed on post-natal day 30. The rats were tested in the elevated plus maze 10 and 2o days after diabetes induction. Results: Diabetic rats had significantly impaired behavioural and cognitive functions compared with age-matched controls. Increased anxiety levels and cognitive deficits were observed in rats that had been diabetic for 20 days compared with their 10-day counterparts. Conclusion: It is essential to diagnose and treat early-onset type 1 diabetes in young children to prevent irreversible cognitive dysfunction.

Childhood Inflammatory Bowel Disease in Libya: Epidemiological and Clinical Features

Background et Aims: Inflammatory bowel disease is thought to be rare in Libya. The aim is to determine the prevalence of juvenile onset inflammatory bowel disease in Libya. Setting: Al-Fateh childrens' hospital; Benghazi; Libya. Methods: This is a retrospective study of all cases diagnosed over 10 years (1997-2006) with either ulcerative colitis; Crohn's disease or indeterminate colitis. Inclusion criteria were age 15 years at time of presentation who were resident in the eastern part of the country and who diagnosed with inflammatory bowel disease. Clinical features were outlined using a proforma. Results: Sixteen cases were diagnosed with inflammatory bowel disease; of whom 11 were males (M:F ratio of 1.5:1). The prevalence and incidence rates in the year 2006 were 3.6 and 0.9 per 100;000 children; respectively. The incidence rate increased from 0.2 in 2002 to 0.9 in 2006 (Z score of 39.87; p); abdominal pain; anorexia and weight loss in 9 (56.2); anemia in 7 (43.75) and vomiting in 6 (37). Ileopancolitis was found in 3 patients whereas 6 patients had ileocecal disease. Conclusions: Childhood inflammatory bowel disease in this population is not so rare and it is increasing. The clinical pattern is similar to that reported by others

A Case of Takayasu Arteritis in a Patient with Juvenile Onset Ankylosing Spondylitis / 대한류마티스학회지

Juvenile onset ankylosing spondylitis is a chronic inflammatory arthritis showing oligoarthritis and enthesopathy of the peripheral and axial skeleton. This have been shown to have different clinical presentation and outcome from adult onset ankylosing spondylitis. Takayasu arteritis is a uncommon, chronic inflammatory disease of elastic arteries such as the aorta, its larger branches and the pulmonary artery trunk. Although, it has rare report about association between ankylosing spondylitis and Takayasu arteritis, there was no report of juvenile onset ankylosing spondylitis with Takayasu arteritis. Thereby, we report a patient with Takayasu arteritis who had juvenile onset ankylosing spondylitis in the course of his disease.

Comparison of Long-term Results of Primary Trabeculectomy with Mitomycin C in Juvenile-onset and Adult-onset Primary Open Angle Glaucoma

PURPOSE: Young age is controversial risk factor for filtration failure following trabeculectomy with adjunctive mitomycin C (MMC). This study aimed at investigating whether juvenile-onset primary open angle glaucoma (JPOAG) patients have worse long-term outcome than adult-onset primary open angle glaucom (APOAG) patients following primary trabeculectomy with adjunctive MMC. METHODS: Medical records of 162 eyes of 113 primary open angle glaucoma patients who had undergone primary trabeculectomy with MMC and minimum follow up of 12 months were retrospectively reviewed. All the patients were free of other known risk factors except young age for surgical failure following trabeculectomy. The patients were divided into two groups; juvenile group (68 eyes of 42 patients, 10~35 years of age) and adult group (51 eyes of 41 patients, age 50 years or older). Forty-three eyes of 30 patients, aged 36~49 years, were excluded from the analysis for the study purpose. Demographic, preoperative and postoperative data were collected for up to 96 months. Kaplan-Meier survival analysis was used for probability of cumulative success estimations according to success criterion (defined as postoperative intraocular pressure of 20 mmHg or less without glaucoma medications). RESULTS: Cumulative life-table success rates of juvenile group were 98.5% at 12 months, 84.6% at 48 months, and 71.2% at 96 months. Those of adult group were 98.0%, 77.0%, and 68.5% respectively. There was no statistically significant difference in overall filtration success rates between juvenile and adult groups (p=0.52). Using a Cox proportional hazard regression analysis of potential risk factors, young age was not found to significantly affect the surgical failure (p=0.97). CONCLUSIONS: Young age itself was not associated with the poor surgical outcome following primary trabeculectomy with adjunctive MMC in this study. The present results suggest that the success rate of the JPOAG compares favorably with that of the APOAG. Primary trabeculectomy with MMC in juvenile glaucoma without other concomitant risk factors may have a favorable long-term clinical outcome as adult glaucoma.

Is Juvenile Onset Ankylosing Spondylitis Different from Adult Onset Ankylosing Spondylitis? / 대한류마티스학회지

OBJECTIVE: Ankylosing spondylitis is a well known form of spondyloarthropathy. It is recognized that age at onset is factor that may influence both the clinical presentation and course of disease. The pattern of symptoms in juvenile onset ankylosing spondylitis (JAS) differs significantly from that of adult onset (AS). METHODS: We investigated retrospectively the clinical characteristics of Korean JAS and AS. We reviewed two hundred and forty-two patients who had met the Modified New York criteria for AS. RESULTS: The JAS:AS ratio in the total AS patients was 88:154. The age of onset was 12.9+/-.67 (mean+/-D) in JAS and 22.6+/-.35 in AS. The sex ratio (M:F 81:7 in JAS, M:F 127:27 in AS) and disease duration (9.7+/-.7 in JAS, 801+/-.8 in AS) were similar in both groups. The most common site of initial symptom was knee in both groups, more frequent in JAS than in AS (JAS: 38%, AS: 25%, p<0.05). The peripheral arthritis was more frequent than axial symptom in initial symptom of both groups (JAS: 84%, AS:65%, p<0.01). There were significant differences in knee arthritis (JAS: 83%, AS:67%, P<0.001), ankle arthritis (JAS: 63%, AS: 39%, p<0.001), and tarsus involvement (JAS: 32%, AS: 19% P<0.05). The peripheral arthritis was found in 79%, more frequent in JAS than in AS (JAS: 90%, AS: 73%, p<0.001),. The arthritis in lower extremities was more frequent in JAS than in AS (JAS: 90%, AS: 72%, p<0.001). There were no differences in laboratory findings, spine involvement, and extraarticular symptoms including renal involvement, uveitis, and enthesitis (JAS: 86%, AS: 81%) between both groups. CONCLUSIONS: Contrary to foreign reports, the peripheral arthritis was more common, sex ratio of male versus female was higher among JAS in Korea. The peripheral arthritis in JAS is more frequent than in AS, and main symptoms in JAS was found more common in peripheral than in axial joints. There were significant differences on initial symptom site and peripheral arthritis of lower extremity, especially knee, ankle and tarsus in both group.

Seizure Types and EEG Findings of Juvenile Onset Idiopathic Generalized Epilepsy

PURPOSE: Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy wth generalized tonic clonic seizure (GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy (ILAE). Although they differ in their predominant seizure types, the syndromes share several seizure types. Also, there are no unique electrophysiologic or genetic markers. The question of phenotypic overlap and purity have arison. METHODS: We diagnosed 60 patients as idiopathic generalized epilepsy in Seoul National University Children's Hospital from August 1987 to June 1993 were analyzed in aspects of seizure types, electroencephalographic findings and follow up results. Their onset age of seizure was over 8 year old and the follow-up period was minimum 3 year. RESULTS: 1) seizure types : Four groups were defined by seizure type. The group with absence but not myoclonic (group A) were 19 cases (31.7%) and the group with myoclonic but not absence (group B), 12 cases (20.0%), the group with absence and myoclnic (Group C), 4cases (6.7%), and the group with GTCS only (Group D), 25 cases (41.6%). There was a tendency in that absence begins earlier and myoclonic seizure later in each group. 2) epilepsy syndromes : We could classify as 20 cases (33.3%) of jevenile absence epilepsy, 15 cases (15%) of jevenile myoclonic epilepsy, 5 cases (8.4%) of epilepsy with generalized tonic clonic on awakening, and 20 cases (33.3%) of isolated generalized tonic clonic seizure. 3) EEG characteristics by seizure type : 3-4Hz generalized bursts were most frequent in group A (p<0.05) and polyspike discharges were more frequent in group B than group A (p<0.05). The response to photic stimulation were more frequently observed in group B than group A. There was no significant differences in response to hyperventilation between group A and B. CONCLUSION: To define the combination of seizure types occurred in intervals make easy to approach the diagnosis and treatment of idiopathic generalized epilepsy syndromes. We found that the current classification does not include all patients such as isolated generalized tonic clonic seizure in this study. We can expect information from the fields of molecular genetics and neuroimaging to help to define the etiologic basis of many epilepsies and perhaps to refine the present system of classification, more etiologically oriented and disease-specifically.

HLA Distribution in Korean Patients with Insulin-Dependent Diabetes Mellitus

The comparative frequency with which the human leukocyte antigen (HLA)-A, -B, -C and -DR were to be found in 54 insulin-dependent diabetes mellitus (IDDM) patients and 73 individuals unafflicted with diabetes in Korea was determined. There was no association between HLA-B8, -B15, or -Bw54 and IDDM. However, an increased frequency of HLA-B13 was found in a segment of the entire population and the entire population of patients: that group of patients in which the onset occurred before the age of 15 years(juvenile-onset IDDM) (p < .01) and that entire population of patients in which the onset found to be before the age of 30 years (entire IDDM) (p < .01). HLA-B35 was found to be significantly decreased in frequency only in the entire IDDM(p < .05). A significant increase in the frequency of HLA-DR4 was found in the entire IDDM patients; HLA-DR4 was found in 55.6% of the patients versus 31.5% of the controls. However, the negative correlation between HLA-DR2 and IDDM was statistically significant in those with juvenile-onset IDDM. It is concluded that the HLA pattern and its association witH IDDM in Korea would appear to be different from that in most other racial groups, including Caucasians, Japanese, and Chinese.