• Title/Summary/Keyword: infant's development

Search Result 340, Processing Time 0.036 seconds

Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene (HPRT 유전자 돌연변이에 의한 HPRT 부분결핍증 1례)

  • Yang Ju-Hee;Park Min-Hyuk;Kim Deok-Soo;Shim Jae-Won;Shim Jung-Yeon;Jung Hye-Lim;Yoo Han-Wook;Park Moon-Soo
    • Childhood Kidney Diseases
    • /
    • v.7 no.1
    • /
    • pp.86-90
    • /
    • 2003
  • An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was determined to have partial hypoxanthine-guanine phosphoribosyl transferase(HPRT) deficiency. The molecular genetic analysis revealed a missense mutation in the patient's HPRT gene. By sequencing the patient's cDNA, we identified an A-to-G transition at nucleotide 239, resulting in the replacement of Aspartate with Glycine at amino acid 80 in the HPRT. To our knowledge, this mutation has not previously been reported. Our patient is now being placed on allopurinol therapy, and has had no problem since. Partial HPRT deficiency has been known to cause recurrent acute renal failure without the phenotypic features of Lesch-Nyhan syndrome. Therefore, we think that early diagnosis and treatment are very crucial in preventing acute renal failure.

  • PDF

An Analysis of Research on the Sensory Stimulation in Newborn Infants in Korea (신생아 감각자극에 관한 국내 연구 논문 분석)

  • Lee Kun-Ja;Lee Myung-Hee
    • Child Health Nursing Research
    • /
    • v.8 no.3
    • /
    • pp.322-333
    • /
    • 2002
  • Purpose: The purpose of study was : 1) to analyse the trend of research on the sensory stimulation in newborn in Korea, 2) to suggest direction for further study on the sensory stimulation in newborn and contributing to the use of intervention in newborn. Method: Research studies on the sensory stimulation in newborn were selected from the dissertations, parents-child health. Academic Society Journal, and from Korean Journal of Pediatrcs which were conducted between 1984 and 2002. The total numbers of the studies were 15. These studies were analyzed for 1) time of publication or presentation 2) thesis for a degree or nondegree 3) characteristics of subjects 4) sample size 5) research design 6) type of sensory stimualtion 7) meaurement tool 8) result. Result : 1)The most year of studies were the 1996's~ 2000's. 2) The degree of studies were higher than nondegree. 3) The most characteristics of subjects were the premature infants. 4) The most frequent sample sizes were 11-20. 5) The all research design was nonequivalent control group pretest-posttest design in quasi experimental basis. 6) The most type of sensory stimulation was Field massage(tactile and kinesthetic). 7) The measurement tool used all objective tools. 8) The most research data were collected by the measure of the weight, heart rate, behavior state, respiration, stress hormon and positive results. Conclusion: 1) Human sensory stimulation did not seem to harm the infants. 2) several positive effects of sensory stimulation that have been reported previously must be reevaluated. 3) further research will be required large sample size, long-term outcome, individualized stimulation program, early parent-infant contact in order to enhance the development of attachment, to determine the underlying mechanism and theorical frame for these stimulation effect.

  • PDF

Supernumerary Nostril: A Case Report (다비공증: 증례보고)

  • Hwang, So-Min;Kim, Hong-Il;Ahn, Sung-Min;Lim, Kwang-Ryeol;Jung, Yong-Hui;Song, Jennifer K.
    • Archives of Craniofacial Surgery
    • /
    • v.13 no.1
    • /
    • pp.60-62
    • /
    • 2012
  • Purpose: Supernumerary nostril, also known as triple nostril or accessory nostril, is one of the extremely rare congenital nasal deformities which includes an additional nostril. Since Lindsey reported the first case of a supernumerary nostril, only 34 cases of supernumerary nostril have been reported world widely. And there was no any domestic case. In the present case, we described a case of supernumerary nostril and reviewed all the literature cases of supernumerary nostril. Methods: A 10-month-old female patient visited to the authors with an additional nostril located above her right nostril, which had been present since birth. Antenatal history was uneventful and the infant's birth was normal. On physical examination there were no other abnormalities and additional nostril was communicating with ipsilateral normal nasal cavity. We performed fistulectomy and local flap for the correction. Results: After 7 months postoperatively, the patient was doing well. The functional outcome was excellent and the cosmetic result was satisfactory. During the long term follow-up for 8 years, there were no specific problems. Conclusion: In supernumerary nostril, preoperative evaluation of other abnormalities is very important and we advocate that corrective surgery can be performed at an early age for patient's psychosocial development.

Introduction to the New Version of PWS Application and It's Use in Medical Practice

  • Kim, Jinsup;Yang, Aram;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of mucopolysaccharidosis and rare diseases
    • /
    • v.2 no.2
    • /
    • pp.41-42
    • /
    • 2016
  • Today's mobile phones and tablet PCs offer a considerably wider range of functionalities than before. Mobile applications (apps) are increasingly used for managing various daily health tasks. Currently, more than 165,000 health-related apps are offered on all the stores of different platforms. Pf Jin and the Association for Research on MPS and Rare Diseases (AMARD) have helped Prader-Willi syndrome (PWS) families through medical information and family support since 2015. AMARD developed the first mobile application for Korean patients with PWS, which was released to a limited number of patients under the age of 3 and only provided to Android users. The first version of the PWS application focused on growth hormone therapy and the assessment of growth and development by parents in infant and early-childhood PWS patients. The 2016 version of the PWS application has been improved in many different ways. We have expanded the subjects of the application to late childhood and adolescent groups, changed the user interface accordingly, and made the application available for iOS users. We will show the specialized growth curves of older children with PWS. Therefore, patients with PWS over the age of 3 and their parents can assess the patients' growth. Additionally, we have upgraded the growth hormone therapy menu by improving the input system for the growth hormone therapy injection schedule and the daily growth profile (height and weight). We expect that the new version of the PWS application will help many PWS families cope with growth hormone therapy and evaluate the effects of growth hormones in better ways. Additionally, we are making a constant effort to provide more useful information about patients with PWS in many aspects.

Development and application of a couple-centered antenatal education program in Korea

  • Koh, Minseon;Kim, Jisoon;Yoo, Hyeji;Kim, Sun A;Ahn, Sukhee
    • Women's Health Nursing
    • /
    • v.27 no.2
    • /
    • pp.141-152
    • /
    • 2021
  • Purpose: This study was conducted to develop a couple-centered antenatal education program and to test the program's feasibility. Methods: With a preliminary-experimental study design, 33 pregnant couples who were expecting their first child participated in this study. The program consisted of four sessions (1 hour/session/week) of education and counseling. Data were collected before and after the intervention from September 2018 to April 2019 at a women's hospital in Daejeon, Korea, with demographic data forms, the Edinburgh Postnatal Depression Scale, Perceived Stress Scale, Maternal-Fetal Attachment Scale, Korean Newborn Care Confidence Scale, Wijma Delivery Expectancy/Experience Questionnaire, and Dyadic Adjustment Scale-10. Results: The pregnant women and their husbands were on average 32.30±3.10 and 33.21±6.25 years old, respectively. The mean marriage duration was 2.34±1.63 years, the gestational age was 31.30±2.66 weeks, and 78.8% of the couples had a planned pregnancy. After the program, both the pregnant women and their husbands showed significant improvements in attachment to the fetus and confidence in providing infant care. Prenatal depression, prenatal stress, and fear of childbirth in pregnant women significantly decreased after completing the program. However, the dyadic adjustment score did not change significantly either in the pregnant women or their husbands. Conclusion: A couple-centered antenatal education program seems to be effective for couples adjusting to parenthood, but further studies should explore ways to have a positive impact on couples' relationships.

Development of Humidity Sensor Based on Ceramic/Metal Halide Composite Films for Non-Contact Biological Signal Monitoring Applications (비접촉 생체신호 모니터링 응용을 위한 세라믹/메탈 할라이드 복합막 기반 습도센서 개발)

  • Park, Tae-Ung;Kim, Ik-Soo;Kim, Min-Ji;Park, Chulhwan;Seo, Eui-kyoung;Oh, Jong-Min
    • Journal of the Korean Institute of Electrical and Electronic Material Engineers
    • /
    • v.35 no.4
    • /
    • pp.412-417
    • /
    • 2022
  • Capacitive-type humidity sensors with a high sensitivity and fast response/recovery times have attracted a great attention in non-contact respiration biological signal monitoring applications. However, complicated fabrication processes involving high-temperature heat treatment for the hygroscopic film is essential in the conventional ceramic-based humidity sensors. In this study, a non-toxic ceramic/metal halide (BaTiO3(BT)/NaCl) humidity sensor was prepared at room temperature using a solvent-free aerosol deposition process (AD) without any additional process. Currently prepared BT/NaCl humidity sensor shows an excellent sensitivity (245 pF/RH%) and superior response/recovery times (3s/4s) due to the NaCl ionization effect resulting in an immense interfacial polarization. Furthermore, the non-contact respiration signal variation using the BT/NaCl sensor was determined to be over 700% by maintaining the distance of 20 cm between the individual and the sensor. Through the AD-fabricated sensor in this study, we expect to develop a non-contact biological signal monitoring system that can be applied to various fields such as respiratory disease detection and management, infant respiratory signal observation, and touchless skin moisture sensing button.

Composition of Human Breast Milk Microbiota and Its Role in Children's Health

  • Notarbartolo, Veronica;Giuffre, Mario;Montante, Claudio;Corsello, Giovanni;Carta, Maurizio
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.25 no.3
    • /
    • pp.194-210
    • /
    • 2022
  • Human milk contains a number of nutritional and bioactive molecules including microorganisms that constitute the so-called "Human Milk Microbiota (HMM)". Recent studies have shown that not only bacterial but also viral, fungal, and archaeal components are present in the HMM. Previous research has established, a "core" microbiome, consisting of Firmicutes (i.e., Streptococcus, Staphylococcus), Proteobacteria (i.e., Serratia, Pseudomonas, Ralstonia, Sphingomonas, Bradyrhizobium), and Actinobacteria (i.e., Propionibacterium, Corynebacterium). This review aims to summarize the main characteristics of HMM and the role it plays in shaping a child's health. We reviewed the most recent literature on the topic (2019-2021), using the PubMed database. The main sources of HMM origin were identified as the retrograde flow and the entero-mammary pathway. Several factors can influence its composition, such as maternal body mass index and diet, use of antibiotics, time and type of delivery, and mode of breastfeeding. The COVID-19 pandemic, by altering the mother-infant dyad and modifying many of our previous habits, has emerged as a new risk factor for the modification of HMM. HMM is an important contributor to gastrointestinal colonization in children and therefore, it is fundamental to avoid any form of perturbation in the HMM that can alter the microbial equilibrium, especially in the first 100 days of life. Microbial dysbiosis can be a trigger point for the development of necrotizing enterocolitis, especially in preterm infants, and for onset of chronic diseases, such as asthma and obesity, later in life.

Comparisons of Maternal Perceptions between Rooming-in and Non Rooming-in Postpartum Women (신생아간호 운영체계에 대한 산모의 인식과 이용에 따른 차이)

  • Kim, Yun Mi;Park, Kwang Ok;Jang, Hae Ryung;Jung, Eun Ja;Kim, Ji Soo;Kim, Eun Young
    • Journal of Korean Clinical Nursing Research
    • /
    • v.15 no.2
    • /
    • pp.77-89
    • /
    • 2009
  • Purpose: The purpose of this study was to compare maternal perceptions between two groups of postpartum women, women who chose to have their babies room-in and women who did not (non rooming-in group). Methods: Data collection was conducted in 37 hospitals from August 10 to September 20, 2008. The participants were 209 mothers opting for rooming-in and 128 mothers for non rooming-in. The women completed a questionnaire which included the Edinburgh postpartum depression scale, maternal attachment inventory, and postpartum self-evaluation questionnaire. Results: There were significant differences in education level, income and antenatal education between the rooming-in and non rooming-in groups. The rooming-in group also showed higher levels of satisfaction with medical services. More important, the rate of breast feeding for the rooming-in group was higher than for the non rooming-in group. There was no difference between the two groups for postpartum depression, maternal attachment and mothers' confidence with infant care tasks. Conclusion: These findings suggest that rooming-in system has more advantages compared to non rooming-in and that it can help to promote breast feeding. The authors recommend that the rooming-in system be expanded nationwide. The results of this research can be used to assist the development of future rooming-in system expansion strategy.

Long-Term Effects of the DHA Supplementation on Physical and Brain Development in Full-Term Infants (장기간에 걸친 DHA 보충이 영아의 신체발육 및 두뇌발달에 미치는 영향)

  • 정현주
    • Journal of Nutrition and Health
    • /
    • v.31 no.8
    • /
    • pp.1295-1306
    • /
    • 1998
  • Recent research indicates that the n-3 fatty acid , docosahexaenoic acid(22 : 6n 3, DHA) plays an essential role in infant brain development . DHA is highly concentrated in brain and retinal tissues and accumulates during late fetal and early neonatal life. Diets deficient in DHA are associated with reduced levels of DHA in brain and retinal tissues. The purpose of this study is to investigate the long term effects of DHA supplementation on the growth and mental development of full-term infants. THirty four healty infants were recruited from those who were delivered at Kyung Hee Medical Center. The experimental groups were the breast milk+DHA(-) group who were fed human milk for 20 weeks after birth and thereafter were fed placebo formula for 28 weeks, the breast milk+DHA(+) group who were fed human milk for 20 weeks after birth and thereafter were fed DHA supplemented formula for 28 weeks, DHA(-) group who were fed placebo formula for 48 weeks, and DHA(+) group who were fed DHA supplemented formula for 48 weeks. The daily average intake of DHA for the breast milk+DHA(-) , breast milk+DHA(+), DHA(-) and DHA(+) groups were 39.1mg, 89.9mg, 17.7mg, and 160.224mg, respectively. The results showed that measurements of infant weight, length, head, and chest circumferncewere all in normal range and they were not influenced by the DHA supplements in their diets. There was a significant correlation between dietary DHA intake and erythrocyte DHA level. The results of flash visual evoke potential (VEP) test were not correlated with eerythrocyte DHA and dietary DHA levels at 48 weeks of age. No differences were found in Bayley mental and Psychomotor Development lndex scores among the four experimental groups at 48 weeks of age. Unlike the short-term effects there was no long-term effect of relatively small amounts of dietary DHA supplements on the scores for flash VEP and Bayley test, even thour호 there was an elevated DHA supplements on the scores for flash VEP and Bayley test, even through there was an elevated DHA content in the infants erythrocytes.

  • PDF

Parenthood (어버이살이)

  • Cho, Doo-Young
    • Korean Journal of Psychosomatic Medicine
    • /
    • v.5 no.1
    • /
    • pp.3-11
    • /
    • 1997
  • In becoming parents, the marital partners enter into a new developmental phase. The conception of the child is an act of mutual creativity during which the boundaries between the self and another were temporarily obliterated more completely than at any time since infancy. The infant is a physical fusion of the parents, and their personalities unite within the child. for many women, creativity as a mother becomes a central matter that provides meaning and balance to their lives. The husband usually has strong desires for an offspring and can be transformed by it. The child can profoundly affect one or both parents, and the influences are reciprocal-a child's needs or specific difficulties uncover a parent's inadequacy. following the child's development, each transition into a new developmental phase requires an adaptation by the parents, and one or another of these required adaptations may disturb a parent's equilibirium. And the personality changes, emotional difficulties, and regressions of a spouse that occur in response to some phase of parenthood can upset the marriage. Not only do children identify with parents, but parents also identify with their children. The parents take pleasure in child's joy and suffer with the child's pain more than in almost any other relationship. certain respects e parents lives again in the child. Through the process of identification the child can also provide one of the two parents with the opportunity to experience intimately the way in which a person of the opposite gender grows up. Parenthood also provides the opportunity to be loved, admired, and needed simply because one is a parent and, as such, a central and necessary object in the young child's life. The many potentialities for emotional satisfactions from parenthood manage to outweigh the tribulations and sacrifices that are required. The child also exerts an indirect effect through changing the parent's position in the society, for new sets of relationships are established as the parents are drawn to other couples with children of the same age, and for a new impetus toward economic and social mobility often possesses the parents. frequently the couple's relatedness to their own parents improves and grows firmer once again. Parenthood, the satisfactions it provides and the demands it makes, varies as life progresses : and changes with the parent's interests, needs, and age as well as with the children's maturation. There are phases in the child's life that the parents are reluctant to have pass, whereas they tolerate others largely through knowing that they will soon be over. The changing lives of the children provide many satisfactions that offset the tribulations, uncertainties, and regrets. The parents change. The young father, who was just starting on his carrier whom the first child was born, settles into a life pattern. He becomes secure with increasing achievement and interacts differently with the youngest child and provides a different model for him than for the oldest. The mother may have less time for a second or third child than for her first, but she may also be more assured in her handling of them. The birth of a baby when the parents art in their late thirties will find them Less capable of physical exertion with the child and less tolerant of annoyances, but they are less apt to be annoyed. Eventually the children min and leave home, but the couple do not cease to be parents.

  • PDF