• Title/Summary/Keyword: age of onset

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Fecal Microbiota Transplantation to Patients with Refractory Very Early Onset Ulcerative Colitis

  • Yodoshi, Toshifumi;Hurt, Thomas L.
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.21 no.4
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    • pp.355-360
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    • 2018
  • Recently, fecal microbiota transplantation (FMT) has been attracting attention as a possible medical treatment of ulcerative colitis (UC). A randomized controlled trial of FMT for children with UC is currently underway. Therapeutic effects of FMT for adults with UC remain controversial. We report two cases of early-onset UC in children. A patient was diagnosed with UC at age 1-year 9-month and underwent FMT at age 2-year 3-month. He attained clinical remission for three weeks after FMT, but then relapsed at four weeks, ultimately undergoing a total colectomy. Another child was diagnosed with UC at 2-year 10-month and she underwent FMT at age 5 years. She has remained in clinical remission following FMT for 24 months and her UC has been maintained without complications with tacrolimus and azathioprine. We report that FMT for early-onset UC appears to be safe and potentially effective.

Segment and Word Duration Produced by Preschool Children (학령전기 아동의 분절음 및 단어 길이)

  • Kang, Eunyeong
    • Journal of The Korean Society of Integrative Medicine
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    • v.8 no.4
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    • pp.291-305
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    • 2020
  • Purpose : The duration of speech segments reflects children's speech motor development. The purpose of this study was to determine whether segmental sound and word duration varies by age among preschool children. Methods : A total of 60 children aged 4~5 years participated in this study. Participants took the picture-naming test to produce single-word speech data. The duration of the consonant at the initial position of the word and the final position of the word, the voice onset time of plosive, the duration of the vowel following the initial consonant, and the duration of the word were measured. Results : As age increased, the duration of the initial consonant, the duration of the word, and the voice onset time decreased significantly. The main effects of age, manner of articulation, and place of articulation on the duration of the initial consonant were significant. The duration of consonants in the nasal sound and plosives and the duration of bilabial and alveolar sound differed significantly between groups. The main effects of age and vocal type on voice onset time were significant. The main effect of age on the duration of the consonant in the final position of word and on the duration of the vowel were not statistically significant. Conclusion : The results of this study showed that the duration of segmental sound and the word were associated with speech development between 4 and 5 years old. Accordingly, duration of the segmental sound and the word may serve as an acoustic cue as they reflect speech development and speech motor control maturity.

Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

  • Ko, Duck Sung;Lee, Sun-Hee;Park, Chan Woo;Lim, Chun Kyu
    • Clinical and Experimental Reproductive Medicine
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    • v.46 no.4
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    • pp.206-210
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    • 2019
  • Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

Gender Differences in Clinical Presentations of Cystic Fibrosis Patients in Azeri Turkish Population

  • Vahedi, Leila;Jabarpoor-Bonyadi, Morteza;Ghojazadeh, Morteza;Vahedi, Amir;Rafeey, Mandana
    • Tuberculosis and Respiratory Diseases
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    • v.79 no.4
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    • pp.267-273
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    • 2016
  • Background: Cystic fibrosis (CF) is an autosomal recessive disorder with several clinical presentations. This study was undertaken in the Azeri Turkish population in Iran, to investigate gender differences in the age at onset and diagnosis, age of death, and duration of illness of CF. Methods: The data of 331 CF patients from 2001 to 2015 was surveyed. Parameters including age, sex, ${\Delta}F508$ mutation, age at onset, age at diagnosis, age of death and clinical presentations were evaluated for both sexes, using descriptive analysis. The association of gender with these variables was studied using logistic regression, chi-square test and Mann-Whitney U test by SPSS version 18. Odds ratio with a confidence interval of 95% and $p{\leq}0.05$ was considered statistically significant. Results: The study included 191 males (57.7%) and 140 females (42.3%), all showing statistically significant difference (p<0.001). Age duration differed between genders. Male and female patients were further under 9 and 4 years, respectively. The occurrence of ${\Delta}F508$ mutation was 0.51 times more in females than in males. Age, diagnosis and sex were closely associated: males were diagnosed at a significantly later age than females (p=0.05). While this compression performed based on clinical presentations, males with respiratory disease had a later median age at diagnosis than females at lifespan (p=0.001). The risk of infertility in males was approximately two times greater than in females (p=0.02). Conclusion: These findings indicate gender differences in CF patients. Future studies are needed to establish other differences and evaluate the causes for the gender variations.

The SOCS-1 -1478CA/del Polymorphism is not Associated with Colorectal Cancer or Age at Onset in Turkish Subjects

  • Hartavi, Mustafa;Kurt, Ender;Oral, Barbaros;Olmez, Omer Fatih;Cubukcu, Erdem;Deligonul, Adem;Avci, Nilufer;Manavoglu, Osman
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7583-7586
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    • 2013
  • Background: Suppressor of cytokine signaling (SOCS)-1 acts as a key regulator of many cytokine signaling pathways and its abnormal expression has been identified in several human malignancies, suggesting potential roles in carcinogenesis. The aim of this study was to investigate any association between the functional SOCS-1 -1478CA>del polymorphism and colorectal cancer (CC) as well as age at onset in a Turkish clinical sample. Materials and Methods: A total of 122 subjects were enrolled in this case-control study (70 CC cases and 52 controls). The SOCS-1 -1478CA>del polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The odds ratio of the del allele for CC relative to the CA allele was not significantly different between the groups (OR=0.71, 95% CI=0.41-1.22, p=0.27). This result did not change after adjustment for age and sex on multivariable regression analysis (OR=0.84, 95% CI=0.59-1.34, p=0.53). When the SOCS-1 -1478CA>del polymorphism was analyzed among CC patients in relation to the age at disease onset, we found no significant differences between subjects with the del/del, CA/del, and CA/CA genotypes. Conclusions: The results of our study did not point towards a major role of the SOCS-1 -1478CA>del polymorphism in the pathogenesis of CC in Turkish subjects.

Reproductive Maturity Onset and Tree Size in a Garcinia kola (Heckel) Coastal Humid Tropical Climate Plantation

  • Henry Onyebuchi Okonkwo;Olubunmi Ayokunle Koyejo;Joseph Okechukwu Ariwaodo;Nsien Iniobong Bruno
    • Journal of Forest and Environmental Science
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    • v.39 no.2
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    • pp.73-80
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    • 2023
  • Little is known of the life history of Garcinia kola; the objective of this study, therefore, was to assess the fruiting age and tree size of the species in a coastal humid tropical climate plantation condition. A total 103 trees were used in the study viz; 80 ten-year-old trees at reproductive maturity onset and 13 thirty-year-old trees with several cycles of reproduction that constitute two independent variables. Data collected were age of onset of flowering and size at reproductive maturity onset. Relative size at reproductive maturity onset (RSOM) was estimated as size at reproductive maturity onset (SOM) divided by asymptotic maximal size (AMS). Data analysis was conducted using pairwise t-test and principal component analysis (PCA). Reproductive maturity onset (flowering) was recorded in the ten-year-old stand eight (8) years after planting. Mean size at reproductive maturity onset (SOM) was height 5.32±1.7 m, dbh 0.11±0.03 m, total number of branches was 29.6±7.3, crown depth 5.24±1.05 m, crown diameter was 4.78±0.7 m, branch diameter 0.098±0.01 m, leaf length 0.13±0.02 m, leaf breadth 0.37±0.01 m, twig length 0.35±0.11 m and leaf per twig 6±0.84 and asymptotic maximal size (AMS) was height 19.85±0.76 m, dbh 0.95±0.09 m, total number of branches 62±5, crown depth 18.83±0.7 m, crown diameter 12.5±1.64 m, branch diameter 0.5±1.6 m, leaf length 0.16±0.023 m, leaf breadth 0.45±0.12 m, twig length 0.37±0.11 m and leaf per twig 19±7.5. Pairwise t-test analysis showed there was significant differences between SOM and AMS in all growth factors except leaf length, leaf breadth, and twig length. Highest relative size at reproductive maturity onset (RSOM) was recorded in leaf length 0.82, twig length 0.82, and leaf breadth 0.80, while, the lowest was branch diameter 0.11. Four components out of the total of eleven were extracted to explain the relationship in RSOM: Principal component one (PC1) explained 37.23%; PC2 26.4%, PC3 22.73%, and PC4 13.64%.

Comparison of Clinical Characteristics between Patients with Early-Onset and Adult-Onset Schizophrenia : A Retrospective Study (조기 발병 조현병과 성인기 발병 조현병의 임상적 특성의 비교 : 후향적 연구)

  • Kim, Pyung-Soon;Shin, Jae-Ho;Lee, Chang-Hwa
    • Korean Journal of Biological Psychiatry
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    • v.20 no.4
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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.

The Estrogenic Effects of Methoxychlor in Pubertal Female Rats: Establishment of Thyroid Assay for Endocrine Disruptors (사춘기 암컷 랫드에서 갑상선 시험에 의한 Methoxychlor의 에스트로젠 효과)

  • 정문구;김종춘;임광현
    • Toxicological Research
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    • v.16 no.1
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    • pp.27-31
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    • 2000
  • Recently, there is a worldwide concern that a great number of man-made chemicals have a hormone-like action both in humans and in animals. EPA and OECD are developing screening programs using validated test systems to determine whether certain substances may have an effect on humans. In the present study, the establishment of in vivo short-term test system for pubertal female assay with thyroid to detect endocrine disrupting chemicals was tried using a model substance, methoxychlor (MC), a chlorinated hydrocarbon insencticide. Forty female rats were assigned to four groups. MC was administered at dose levels of 0, 8, 40 and 200mg/kg by gavage to female rats from day 21 post partum to the completion of vaginal opening. We evaluated body weight change, age at vaginal opening, onset of estrous cyclicity, age at first esturs, ovary weight, and serum concentrations of thyroxine and thyroid stimulating hormone in female rats. The age at vaginal opening of females receiving 40 200mg/kg was significantly younger than control. The onset of estrus cyclicity and age at first estrus of females receiving 200mg/kg was also younger than controls. There was no effect of treatment on body weight, ovary weight, and hormone concentration. Based on these results, it can be concluded that application of MC at dose level of 40mg/kg affects the vaginal opening and application of MC at dose level of 200mg/kg accelerates the vaginal opening and the onset of estrus cylicity.

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A CASE OF NARCOLEPSY IN A 11 YEAR-OLD BOY (소아 기면증 1예)

  • Choi, Bo-Moon
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.4 no.1
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    • pp.173-178
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    • 1993
  • Narcolepsy's age at onset is reported to be relatively homogeneous, occuring usually after the onset of puberty, although most cases are diagnosed when the patients are in their late teens to late 20s. It is very unusual for a patient to develop narcolepsy before 15 years of age or after 30 years of age. A 11-year old boy who has developed excessive daytime sleepiness since age of 7 and has all the four major features of narcolepsy by the time of evaluation is presented. On polysomnographic examination, the patient showed two sleep onset REM periods in the three latency test of the multiple sleep latency test and the nocturnal polysomnogram. In addition, the findings of typing HLA class I and II of the patient's family are presented. Reports of pediatric narcolepsy previously reported are reviewed.

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Lack of Association between Polymorphisms in Genes MTHFR and MDR1 with Risk of Childhood Acute Lymphoblastic Leukemia

  • Kreile, Madara;Rots, Dmitrijs;Piekuse, Linda;Cebura, Elizabete;Grutupa, Marika;Kovalova, Zhanna;Lace, Baiba
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.22
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    • pp.9707-9711
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    • 2014
  • Background: Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Some of them are known, but their functional roles still requireinvestigation. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably also triggered by inherited factors. Materials and Methods: The MDR1 gene polymorphisms rs1045642, rs2032582 and MTHFR gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were also available for 42 probands. Results: No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Linkage disequilibrium was not observed in a family-based association study either. Only marginal association was observed between genetic marker rs2032582A and later disease onset (p=0.04). Conclusions: Our data suggest that late age of ALL onset could be triggered by mild effect common alleles.