• 대한유전성대사질환학회지
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• 제16권3호
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• pp.141-147
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• 2016

저인산증은 드문 선천성 대사 이상 질환으로, 조직-비특이 알칼리 포스파테이스(TNSALP)의 결핍으로 인해 발생한다. 상염색체 우성 혹은 열성 유전이 모두 가능하며, 발생시기에 따라서 주산기, 영아기, 아동기, 성인기로 나뉘고, 증상이 일찍 발현할수록 예후가 나쁜 것으로 알려져 있다. 혈청 알칼리 포스파테이스가 감소해 있으면서 구루병 혹은 골연화증을 보이는 환자에서 ALPL 유전자 변이를 규명하는 것이 저인산증을 진단하는 가장 확실한 방법이다. 본 증례 보고는 산전 초음파에서 장골의 이상과 출생 후 저포스파테이스증이 확인되어 ALPL 유전자 검사를 통해 양성 주산기 저인산증으로 진단된 환자 보고이다. 환자는 출생 당시 호흡곤란이나 고칼슘혈증, 피리독신 의존성 발작 등의 합병증 없이 경과가 양호하였다. 생후 12개월 이후 성장 지연이 확인되었지만, 생후 53개월까지 골격의 무기질화가 호전된 양성 경과를 가지게 되었다. 현재 재조합 TNSALP인 asfotase alfa가 개발되어 주산기 및 영아기 저인산증 환아에서 조속한 진단과 치료가 더욱 중요해진 바, 좀더 많은 환자들의 진단이 이루어져야 하겠다.

• Journal of Animal Science and Technology
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• 제48권5호
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• pp.651-662
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• 2006

프탈레이트 에스테르는 플라스틱 가소제로서 이용되며 또한 유제품과 같은 음식에서 미량으로 발견되고, 종종 내분비 교란물질로 의심되고 있다. 본 연구의 목적은 DBP, DINP 또는 DEHA의 주산기 노출이 랫트에 있어 성 성숙 후, 번식기능 특히 뇌의 성분화에 어떤 영향을 끼치는 지에 대해 조사하였다. 이를 수행하기 위해서, 어미에게 식물성 에스트로겐의 함유가 낮은 분말 사료에 다음과 같은 단계적 농도의 DBP (20, 200, 2000, 10000 ppm), DINP (40, 400, 4000, 20000 ppm), DEHA (480, 2400, 12000 ppm)를 혼합한 후, 임신 15일째부터 출생 후, 21일째 (이유기)까지 섭취 시켰고, 성 성숙 후, 혈청 성호르몬 및 성선자극호르몬의 레벨과 교배행동 및 성주기 회귀를 분석하였다. 그 결과, DBP, DINP 또는 DEHA의 주산기 노출에 의한 생후 20~21주째의 암수 랫트에 있어, 성호르몬 및 성선자극호르몬의 레벨뿐만 아니라 암컷의 성주기의 회귀에 대해 어떠한 영향을 주지 않았다. 이것은 시상하부－하수체－성선축의 내분비계를 제어하는 뇌의 성분화에는 이들 화학물질이 영향을 주지 않았다는 사실을 시사한다. 하지만, 수컷의 성행동 특히, 사정 (ejaculation)과 암컷의 로도시스 반응이 억제되는 것이 관찰되었다. 이러한 결과로부터 DBP, DINP 또는 DEHA의 주산기 노출은 성선자극 호르몬의 분비에는 영향을 주지 않지만, 성행동을 제어하는 시상하부의 어떤 영역에 직접적으로 작용할 가능성 즉, 뇌의 성분화에 영향을 끼쳐 성 성숙 후, 성 특이적 행동을 억제시킬 가능성을 시사한다.

• Advances in pediatric surgery
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• 제11권1호
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• pp.1-8
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• 2005

With the development of fetal ultrasonography, detection of fetal ovarian cysts has been increased. Although ovarian cyst formation during the perinatal period is a self limiting process, there is still considerable controversy regarding the best treatment of the fetal ovarian cyst. The purpose of this study is to evaluate the natural history of fetal ovarian cysts and to analyze the result of treatment. From 1995 to 2004, 31 consecutive fetuses with ovarian cysts were followed by ultrasonography during the perinatal period. The fetal ovarian cyst was diagnosed by prenatal ultrasonography between 25weeks and 38 weeks and the mean size of the cysts was 5cm (ranged from 2 to 8cm). At birth, 3 cysts disappeared. In 2 cases, the diagnoses were changed to multicystic kidney disease and intestinal duplication. During following up of 26 cysts, 15 cysts have resolved completely. Seven cysts required oophorectomy because of cyst torsion (n=3), differentiation of tumorous condition (n=2), increased size of cyst (n=1), and large size (8cm) of cyst at birth (n=l). Fetal ovarian cyst should primarily be observed, and only in the limited cases, surgical treatment would be required for the risk of complications such as torsion and differentiation from benign to malignant pathology.

• Clinical and Experimental Pediatrics
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• 제50권3호
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• pp.230-235
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• 2007

In the early neonatal period, the neonate is challenged by the loss of the placental calcium transport and manifests a quick transition, from an environment in which PTHrP plays an important role to a PTH- and 1,25-dihydroxyvitamin D-controlled neonatal milieu. Disturbances in mineral homeostasis are common in the neonatal period, especially in premature infants and infants who are hospitalized in an intensive care unit. In many cases these disturbances are thought to be exaggerated responses to the normal physiological transition from the intrauterine environment to neonatal independence. Some disturbances in calcium and phosphate homeostasis are the result of genetic defects, which in many instances can now be identified at the molecular level. Although fetus develop remarkably normally in the presence of maternal calcium, PTH and vitamin D deficiency, the neonates demonstrate abnormalities that are consequences of the prior abnormal maternal calcium homeostasis. Evaluation and management of hypocalcemia and hypercalcemia in neonate requires specific knowledge of perinatal mineral physiology and the unique clinical and biochemical features of newborn mineral metabolism.

• Advances in pediatric surgery
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• 제2권2호
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• pp.115-118
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• 1996

Meconium peritonitis is a primarily aseptic, chemical peritonitis caused by the spill of meconium into the abdominal cavity through an intestinal perforation during the intrauterine or perinatal period. The perforation is known to be related to intrauterine vascular compromise. Recently, the authors experienced 4 cases of ileal atresia complicated by meconium peritonitis. The male to female sex ratio was 1 : 3, and age at operation was 1 day(2 cases), 3 days(2 cases). Three cases had generalized peritonitis, and one the cystic type of meconium peritonitis. The types of ileal atresia were IIIa(2 cases), IIIb(1 case), and II(1 case). The proximal blind ileal end was perforated in 3 cases, and distal end perforation was in 1 case of cystic type. Postoperative recovery was excellent in all cases.

• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.1022-1025
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• 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the $FGFR3$ gene. We confirmed by detection of a R248C mutation in the $FGFR3$ gene in DNA analysis.

• The Journal of Korean Physical Therapy
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• 제14권4호
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• pp.367-384
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• 2002

Cerebral palsy refers to the neuromuscular deficit caused by nonprogressive defect or lesion in single or multiple locations in the immature brain resulting in Impaired motor function and sensory integrity. The pathophysiological events may occur during the prenatal intrapartum, perinatal, or early postnatal period. Cerebral palsy is the most common condition and it poses a challenge to practitioners due to the large variation in prognosis for motor function of children with this diagnosis. The objectives of this article are review to pathological and psychological factors of cerebral palsy and upper extremity function. Upper extremity and hand function are most important in activity of daily living in cerebral palsy This article hope to give the information for application in many therapists.

• The Korean Journal of Physiology
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• 제19권2호
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• pp.215-225
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• 1985

흰쥐의 태아에서 ACTH의 분비양상을 알아보기 위하여, 태아의 제태일수에 따라 혈장 및 뇌하수체 전엽에서 여러 분자형태의 ACTH를 방사면역측정법으로 측정하였다. 태아의 혈장 ACTH농도는 제태 19일에서 가장 높았으며 그후 계속 감소하여 출생후 1주에서 가장 낮은 값을 보였다. 출생 1주후부터 ACTH농도는 다시 증가하기 시작하여 출생후 21일에서는 거의 성체의 값에 도달하였다. 측정된 ACTH는 chromatogram상에서 항상 3가지 peak가 나타났다. 즉 'big'형 ('big' ACTH, $MW\approx44,000$), 'intermediate'형 ('intermediate' ACTH, $MW\approx13,000$)및 'little'형 ('little' ACTH, $MW\approx4,500$)으로 구분되었다. 임신말기 (제태기간 17일에서 21일 사이)에서 태아 혈장의 ACTH는 'little'형의 비율이 증가한 반면 'big'형의 비율은 감소하였다. 그러나 뇌하수체 전엽에서 분비된 ACTH는 3가지 형이 같은 비율이었다. 뇌하수체 전엽에서 분리한 'big'형의 ACTH를 시침관내에서 trypsin을 처리한 결과 'intermediate'형과 little'형이 출현하였다. 이 결과로 미루어 태아 흰쥐의 뇌하수체에서 분비된 ACTH가 순환도증 다른 형으로 전환될 수 있음이 시사된다.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.105-110
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• 2016

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.

• Child Health Nursing Research
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• 제30권2호
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• pp.118-128
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• 2024

Purpose: This study aimed to examine the health concerns of parents regarding their premature infants and to identify changes in these concerns during perinatal period and after discharge. Methods: This was a retrospective study performed at a single tertiary center that enrolled 119 premature infants who were discharged from the neonatal intensive care unit (NICU) and visited the outpatient pediatrics department between December 2018 and October 2021. Data on the concerns of 176 parents regarding enrolled premature infants' health from before birth to 1 week after NICU discharge were obtained from outpatient records. The t test and with the chi-squared test were used to analyze the data for this study. Results: The consistently greatest focus of parents' health concerns was the respiratory system. The second focus of parents' health concerns before discharge was the central nervous system. However, during the first week after NICU discharge, the gastrointestinal system was the second-most frequent focus of parents' health concerns among parents of infants without diseases related to prematurity and infants with older gestational ages. Conclusion: The results of this study offer insights into the health concerns among parents of premature infants. Parental health concerns about premature infants vary over time, from before birth to post-discharge, necessitating supportive interventions to enhance parental understanding of their child's health status.