• 생물정신의학
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• 제20권4호
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• pp.179-186
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• 2013

Objectives This study is designed to compare the clinical characteristics of patients with early onset schizophrenia to those of adult onset schizophrenia patients in first episode. Methods Authors reviewed medical records of 16 early-onset schizophrenia patients and 22 adult-onset schizophrenia patients who had been admitted in the psychiatric ward and diagnosed as schizophrenia according to Diagnostic and Statistical Manual of Mental Disorders, fourth Edition (DSM-IV) at Eulji University Hospital during 2004-2008. Socio-demographic data and clinical characteristics such as duration between onset and active phase, number of significant positive and negative symptoms, positive and negative symptom scores of Positive and Negative Syndrome Scale (PANSS), Clinical Global Impression-Severity (CGI-S) scores, duration from onset to admission, duration of admission, and equivalent dose of antipsychotics were reviewed. These clinical characteristics of early-onset group were compared to those of adult-onset group. Correlation between age of onset and other clinical characteristics was also analyzed. Results Early-onset group showed more insidious onset pattern and had longer duration of hospitalization than adult-onset group. Early onset group also exhibited more negative symptoms, higher negative symptom scores, and higher CGI-S scores than adult-onset group after treatment. However, there were no significant differences in family history of psychosis, positive symptom frequency at discharge and equivalent dose of antipsychotics between two groups. Conclusions This study revealed that patients with early-onset schizophrenia exhibited more insidious onset, more negative symptoms, and more severe symptoms than those with adult-onset schizophrenia after treatment.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제14권1호
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• pp.1-25
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• 2011

Inflammatory bowel disease (IBD) develops during childhood or adolescence in approximately 25% of patients with IBD. Recent studies on pediatric IBD have revealed that early-onset IBD has distinct phenotype differences compared to adult onset IBD. Pediatric early-onset IBD differs in many aspects including disease type, location of the lesions, disease behavior, gender preponderance and genetically attributable risks. This review examines the currently published data on the clinical, epidemiological and genetic differences between early-onset and adult-onset IBD. And finally, therapeutic considerations in the management of pediatric-onset IBD are also discussed.

• 대한한방소아과학회지
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• 제17권2호
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• pp.15-26
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• 2003

저자는 류마티스 관절염의 일종인 성인형 스틸병으로 치료받던 16세 환아의 치료 과정 중 발생한 미만성 뇌피질 손상 1예(例)에 대하여 초기 양방 병원에서의 치료에도 변화가 없었던 운동마비와 정신신경계통의 제반 증상에 대하여 한방적 치료한 결과 호전도가 있었기에 증예보고(證例報告)하는 바이다. 특히 경계정충(驚悸??)을 동반한 불면(不眠)에 대하여 자하차(紫河車) 약철(藥鍼)과 녹용(鹿茸) 약철(藥鍼)을 시술한 것에 대하여서는 지견을 얻었으며 가미온담탕(加味溫膽湯), 양심탕류(養心湯類)의 처방이 유용한 효과가 있다는 결론을 얻었다. 하지만 150일이라는 장기입원 치료에 비해서 전실어(全失語)는 거의 호전을 보지 못했으며 Mental Grade가 GCS 상 12점까지 상승하였으나 일상생활에서의 능동적인 운동능력의 호전에는 한계가 있었다는데서 아쉬움이 남는다. 아직까지 한방 분야에서 성인형 스틸병과 미만성 뇌피질 손상에 대한 연구는 별로 보고된 것이 없었으며, 특히 장기간의 관리가 필요한 마비 질환의 경우 그 평가 척도나 정신계통의 회복에 있어서 연구 및 치료방법이 부족한 듯하며 차후 지속적인 연구가 필요하리라 사료된다.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Journal of Yeungnam Medical Science
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• 제27권1호
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• pp.78-84
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• 2010

Adult-onset Still's disease (AOSD) is an inflammatory disorder that's characterized by daily, spiking high fever, arthritis and an evanescent, salmon-pink rash. AOSD is diagnosed purely on the basis of the typical clinical features of the illness. The symptoms commonly include swelling of the lymph nodes, enlargement of the spleen and liver, and a sore throat. AOSD is difficult to differentiate from systemic lupus erythematosus (SLE) due to the similar clinical manifestations. We report here on a case of a 16-year-old female patient with autism and epilepsy and who complained of daily spiking fever for 20 days. The patient had maculopapular skin rashes on the face and whole body and lymphadenopathy. The liver function tests were elevated mildly. The initial rheumatoid factor (RF) and antinuclear antibody (ANA) tests were negative. We diagnosed her as having adult-onset Still's disease according to the criteria of Yamaguchi. We successfully treated her with oral prednisolone. But her antinuclear antibody test was changed to positive after discharge. So we finally diagnosed her as having SLE.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권1호
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• pp.41-49
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• 2019

Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with "neonatal IBD" or "infantile-onset IBD" have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD.

• 대한불안의학회지
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• 제7권1호
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• pp.34-39
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• 2011

Objectives : An early age at onset of obsessive compulsive symptoms in family studies has been strongly associated with a more familial form of obsessive compulsive disorder (OCD). Further, many reports have suggested that early- and late- onset OCD represent separate subtypes of the disorder. The aim of this study was to investigate the associations between the glutamate receptor, the ionotropic, n-methyl-d-aspartate (NMDA) subunit 2B gene (GRIN2B) polymorphisms, and onset of OCD in the Korean population. Methods : We recruited 109 OCD patients and classified them into early- (age of onset <18 years) and late-onset groups (age of onset${\geq}$18). Genomic DNA was extracted from their blood after which the genotypes and allelic frequencies of the two GRIN2B polymorphisms (5072T/G and 5988T/C) were compared in the two groups. We also compared genetic data between child- (age of onset${\leq}$15) and adult-onset groups (age of onset${\geq}$19) using the same protocol. Results : There were no significant differences between the early- and late-onset groups with respect to genotype. Moreover, we could not find any differences in genotype frequencies between child and adult-onset groups. Conclusions : Our study suggested that GRIN2B polymorphisms (5072T/G and 5988T/C) do not affect the onset of OCD in Koreans. However, this finding has resulted from a preliminary study and thus, further study is required.

• Medical Lasers
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• 제9권2호
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• pp.126-133
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• 2020

Recurrent respiratory papillomatosis (RRP) is a benign tumor that occurs in the respiratory tract, especially in the larynx. The etiology of RRP is human papillomavirus (HPV). According to the age of occurrence, RRP is divided into childhood-onset and adult-onset types. Generally, childhood-onset RRP shows a high recurrence rate and diffuse involvement in the respiratory tract. Adult-onset RRP is more localized and appears more frequently as a solitary lesion. It may be the result of sexual transmission or the proliferation of latent HPV infections. At present, the treatment of choice for RRP is CO₂ laser ablation. In addition, pulse dye laser or KTP (KTiOPO: potassium-titanyl-phosphate) lasers are also used. Non-surgical adjuvant therapies can be applied in cases requiring repetitive surgery or with diffuse extensions. This review will introduce the clinical features of RRP and various treatment options including lasers.

• The Journal of Korean Physical Therapy
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• 제13권2호
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• pp.407-420
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• 2001

This article provide information pertaining to recent scientific findings regarding neural and motor control development and the effects of brain damage on that development. Clinical and scientific issues pertaining to perinatal and adult-onset brain damage are discussed. The article is intended to provide the clinician with new information that will assist in patient assessment and the establishment of therapeutic interventions

• Neonatal Medicine
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• 제18권2호
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• pp.370-373
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• 2011

Citrin deficiency는 염색체 7q21.3의 SLC25A13 유전자 돌연변이에 의해 발생하는 상염색체 열성질환으로 neonatal-onset type II citrullinemia (CTLN2) 및 adult-onset CTLN2로 분류된다. 생후 16일된 여아가 신생아 대사 검사에서 citrullinemia (CTLN)가 의심되었고 혈중 아미노산 분석에서 CTLN 및 고암모니아혈증을 보였고, SLC25A13 유전자 분석 결과 c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]) 의 새로운 돌연변이가 발견되어 neonatal-onset CTLN2로 진단되었다. 저자들은 신생아 대사 검사에서 citrullinemia를 보이는 영아들에서 확진을 위한 유전자 검사 및 혈중 아미노산 분석이 필요하다고 생각한다.