• 제목/요약/키워드: developmental retardation

검색결과 135건 처리시간 0.022초

The Effect of Sodium Nitrite Exposure on Physiological Response of Starved Far Eastern Catfish, Silurus asotus

  • Park, In-Seok;Gil, Hyun Woo
    • 한국발생생물학회지:발생과생식
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    • 제22권4호
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    • pp.319-329
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    • 2018
  • The experiment was conducted for 210 days to determine the effect of feeding, and starvation, and exposure to sodium nitrite ($NaNO_2$) on the survival, physiological changes, hematological parameter, and stress response of Far Eastern catfish, Silurus asotus. The survival of the starved group was lower than that of the fed group during the experiment. Starvation resulted in retardation of growth, which provides an example of fish that failed to continue to grow and remain in a good condition. Blood analyses (cortisol and glucose) showed significant differences of stress response between the fed and starved groups exposed to $NaNO_2$ at the conclusion of the experiment (p<0.05). These results suggest that all nutritional parameters used for starvation and feeding with $NaNO_2$ stress in this experiment appear to be a useful index of nutritional status in Far Eastern catfish.

A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene

  • Kim, Hamin;Lee, Hyunjoo;Lee, Young-Mock
    • Journal of Genetic Medicine
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    • 제17권2호
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    • pp.97-101
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    • 2020
  • The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

β-ureidopropionase Deficiency

  • Jun Hwa Lee
    • Journal of Interdisciplinary Genomics
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    • 제5권1호
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    • pp.5-11
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    • 2023
  • β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

Common features of atopic dermatitis with hypoproteinemia

  • Jo, So Yoon;Lee, Chan-Ho;Jung, Woo-Jin;Kim, Sung-Won;Hwang, Yoon-Ha
    • Clinical and Experimental Pediatrics
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    • 제61권11호
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    • pp.348-354
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    • 2018
  • Purpose: The purpose of this study was to identify the causes, symptoms, and complications of hypoproteinemia to prevent hypoproteinemia and provide appropriate treatment to children with atopic dermatitis. Methods: Children diagnosed with atopic dermatitis with hypoproteinemia and/or hypoalbuminemia were retrospectively reviewed. The patients' medical records, including family history, weight, symptoms, treatment, complications, and laboratory test results for allergies and skin cultures, were examined. Results: Twenty-six patients (24 boys) were enrolled. Seven cases had growth retardation; 7, keratoconjunctivitis; 6, aural discharges; 5, eczema herpeticum; 4, gastrointestinal tract symptoms; and 2, developmental delays. In 21 cases, topical steroids were not used. According to the blood test results, the median values of each parameter were elevated: total IgE, 1,864 U/mL; egg white-specific IgE, $76.5kU_A/L$; milk IgE, $20.5kU_A/L$; peanut IgE, $30kU_A/L$; eosinophil count, $5,810/{\mu}L$; eosinophil cationic protein, $93.45{\mu}g/L$; and platelet count, $666.5{\times}10^3/{\mu}L$. Serum albumin and total protein levels decreased to 2.7 g/dL and 4.25 g/dL, respectively. Regarding electrolyte abnormality, 10 patients had hyponatremia, and 12, hyperkalemia. Systemic antibiotics were used to treat all cases, and an antiviral agent was used in 12 patients. Electrolyte correction was performed in 8 patients. Conclusion: Hypoproteinemia accompanying atopic dermatitis is common in infants younger than 1 year and may occur because of topical steroid treatment continuously being declined or because of eczema herpeticum. It may be accompanied by growth retardation, keratoconjunctivitis, aural discharge, and eczema herpeticum and can be managed through skin care and topical steroid application without intravenous albumin infusion.

이미증(pica) 치료에 있어서 얼굴가리게 사용의 효과 (THE EFFECT OF FACIAL SCREENING ON PICA TREATMENT IN A CHILD WITH SEVERE RETARDATION)

  • 정보인
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제6권1호
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    • pp.109-115
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    • 1995
  • 2세 10개월된 중증 정신지체아동의 이미증 치료에서 지시따르기 훈련을 통한 장난감 놀이지도(DRO)와 이미증 제재수단으로 얼굴가리개(Facial Screening)가 사용되었다. 이 아동의 이미증은 주로 손가락 빨기, 장난감 입에 넣고 빨기, 주위의 물건에 닥치는 대로 입을 대고 빠는 형태이다 빠는 행위의 발생은 장난감 놀이지도 전에는 15분 당 평균 18.6회였으나, 놀이지도 기간에는 평균 5.4회, 얼굴가리개를 통해 빠는 행위를 제재한 치료기간에는 평균 2.3회로 감소되어, 얼굴가리개의 사용이 이 아동의 이미증 치료에 큰 효과를 보였다. 이 아동은 이미증 이외에 구토행위를 보였는데, 본 연구에서는 구토행위를 치료하지 않았으나, 놀이지도 및 이미증 치료기간 동안 구토행위가 저절로 감소된 현상을 보인 것은 기존 연구에서 밝혀진 바와 같이 한 행동의 치료가 다른 문제행동의 감소에 영향을 줄 수 있음을 증명하고 있다.

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전신성 백색증(Oculocutaneous albinism) 환아의 증례 보고 (OCULOCUTANEOUS ALBINISM : A CASE REPORT)

  • 최지은;최남기;김선미;양규호
    • 대한소아치과학회지
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    • 제35권4호
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    • pp.713-717
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    • 2008
  • 백색증(albinism)이란 신체 내 melanin 합성의 부분적, 혹은 완전한 결핍에 의해 일어나는 질환이다. Melanin은 신체 내에서 머리카락, 눈, 피부 등에 분포하기 때문에 백색증 환자는 밝은 금발이나 갈색의 머리카락과 하얀 피부, 붉거나 갈색의 홍채를 갖는 특징적인 외모를 지닌다. 백색증 환자는 변이된 유전자 및 임상적 특징에 따라 크게 전신성 백색증, 안성 백색증, 부분적 백색증으로 나뉘며 그 밖에 많은 하위군이 존재하고 그에 따른 치료법이나 치과적 주의사항도 달라진다. 본 증례는 치아의 발육지연 여부 평가를 주소로 내원한 정신 지체가 동반된 전신성 백색증 환아로서 치아 발거 등의 관혈적 시술 및 보존수복, 공간 유지장치 등의 치료를 통해 양호한 결과를 보였기에 이를 보고하는 바이다.

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기초학습부진으로 의뢰된 일 광역시의 일반학급 초등학생의 심리, 정신과적 평가 및 부모의 특성 (Clinical Diagnoses, Psychopathology, and Neurocognitive Tests in Children Referred for Scholastic Difficulties and Their Parents)

  • 방수영;박정환;임재인
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제22권1호
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    • pp.16-24
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    • 2011
  • Objectives:This study examined the prevalence of psychiatric problems in children with scholastic difficulties who had been referred for mental health services from the Office of Education in Ulsan Metropolitan City. Methods:Child psychiatrists evaluated the referred children using the DSM-IV. Evaluation tools included the Wechsler Intelligence Scale for Children-III, the Children's Depression Inventory, the Korean form of the State-trait anxiety Inventory for children, the ADHD rating. Results:Seventy-six children consisting of 64 boys (84.2%) and 12 girls (15.8%) participated in the study. The average age was 10.3 (SD=0.93) years old. Approximately 74% of the children referred for scholastic difficulties were diagnosed with mental retardation. The Axis I diagnosis among these children were ADHD (86.8%), depression (21.1%), learning disorder (9.2%), communication disorder (4.8%), pervasive developmental disorder (3.6%), internet addiction (1.3%), and mood disorder (1.3%). Their overall measure according to the Child Depression Inventory was 22.7 (SD=16.8), that for the State-Trait Anxiety Inventory for Children was 33.3 (SD=7.9)/32.4 (SD=9.5), and that for the ADHD rating scale was 18.9 (SD=10.9). Conclusion:These results suggest that many children with scholastic difficulties have both complex psychiatric and educational problems.

전국 시설이용 장애인의 구강보건의식행태에 관한 조사연구 (THE STATUS OF ORAL HEALTH BEHAVIORS AND DENTAL SERVICES IN THE KOREAN DISABLED)

  • 김영남;최연희;전현선;임지준;정원균;장선옥;이긍호
    • 대한장애인치과학회지
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    • 제1권1호
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    • pp.18-24
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    • 2005
  • The purposes of this study were 1) to investigate the oral health problem of the disabled according to the handicapped types, 2) to collect the empirical data for developing and establishing the oral health policies for the handicapped, and 3) to find out the major obstacles against the dental services and oral health promotion. The handicapped subjects were collected by designed cluster sampling and interviewed with structured questionnaire in order to measure the oral health knowledge and behaviors. The subjects were attending the special schools and private or public welfare institutions for crippled disorder, encephalopathy disorder, mental retardation, visual disturbance, hearing defect, and developmental disorder. Oral examination was conducted by 13 trained dentists. 1,476 of handicapped people were finally surveyed. The results were as follows; The experiences of visiting dental office during the last one year in 18~64 year-old disabled people were 48.86% in crippled disorder, 52.50% in mental retardation, 58.24% in visual disturbance, 39.29% in hearing defect, respectively. To improve this challenging situation, we should find out the obstacles against the dental service and oral hygiene maintenance by the types of handicap, and develop the oral health policies which could support and advocate the Korean disabled.

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Schinzel-Giedion 증후군 1례 (A Case of Schinzel-Giedion Syndrome)

  • 정민지;임형은;홍영숙;이주원;김순겸;유기환
    • Childhood Kidney Diseases
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    • 제8권1호
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    • pp.57-62
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    • 2004
  • Schinzel-Giedion 증후군은 상염색체 열성 유전을 하는 것으로 추정되는 매우 드문 질환으로서 선천성 수신증, 골격계 이형성, 심한 발달 지연 등이 특징인 이형 증후군이다. 저자들은 유전질환의 병력이 없는 건강한 부모에서 태어난 후 진단된 Schinzel-Giedion 증후군으로서 신 수질의 석회화와 K. pneumoniae에 의한 요로감염이 추가로 발생한 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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Effect of Streptozotocin-Induced Diabetes on Bone and Heart Development in Juvenile Rats

  • Kim, Joo-Heon;Lee, Young-Jeon;Lee, Sang-Un;Suzuki, Takao;Lee, Sang-Kil;Kang, Tae-Young;Hong, Yong-Geun
    • Reproductive and Developmental Biology
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    • 제34권2호
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    • pp.81-88
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    • 2010
  • Our objective of current study was to investigate the development of bone and heart in association with diabetes mellitus (DM). DM was induced by administering an intraperitoneal injection of streptozotocin (STZ; 60 mg/kg) to 4-week-old Sprague-Dawley rats. Body weight and blood glucose were monitored, and rats were sacrificed after 2 or 5 weeks. The left ventricle (LV), including the interventricular septum, was weighed, and body weight and tibial bone length were assessed. Young diabetic rats showed reduced growth in terms of tibial length and body weight compared to controls. Moreover, diabetic males showed more significant growth suppression and reduced LV size than diabetic females. Morphometric analysis of tibiae from diabetic rats revealed suppressed bone growth at 2 and 5 weeks, with no difference between genders. STZ-induced diabetes decreased bone growth and retarded pre-pubertal heart development. As a result, diabetes may increase cardiovascular risk factors and lead to eventual heart failure. Therefore, new therapeutic approaches are required for diabetic children exhibiting growth retardation. Heart growth factor, exercise, and cardiopulmonary physical therapy may be required to promote heart development and physiological function.