• Journal of Genetic Medicine
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• 제14권1호
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• pp.27-30
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• 2017

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.989-993
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• 2010

Although numerous clinical observational studies have been conducted over a period of over 30 years, the clinical significance of $Ureaplasma$ infection is still under debate. The $Ureaplasma$ speices. is a commensal in the female genital tract and considered to have of low virulence; however, $Ureaplasma$ colonization has been associated with infertility, stillbirth, preterm delivery, histologic chorioamnionitis, and neonatal morbidities, including congenital pneumonia, meningitis, bronchopulmonary dysplasia, and perinatal death. Recently, $Ureaplasma$ was subdivided into 2 separate species and 14 serovars. $Ureaplasma$ $parvum$ is known as biovar 1 and contains serovars 1, 3, 6, and 14, and $Ureaplasma$ $urealyticum$ (biovar 2) contains the remaining serovars (2, 4, 5, and 7-13). The existence of differences in pathogenicities of these 14 serovars and 2 biovars is controversial. Although macrolides are the only antimicrobial agents currently available for use in neonatal ureaplasmal infections, in the current clinical field, it is difficult to make decisions regarding which antibiotics should be used. Future investigations involving large, multicenter, randomized, controlled studies are needed before proper recommendations can be made for clinical practice.

• 여성건강간호학회지
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• 제9권2호
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• pp.138-151
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• 2003

Purpose: In the study effects of San-Yin-Jiao (SP6) acupressure on anxiety and pulse during labor, and on neonatal status were examined. Method: The design was a randomized controlled clinical trial with a double-blind method. Data were collected before (pre) and after (post) treatment using structured questionnaire, anxiety scale, pulse rate, umbilical vein pH and Apgar scores. The experimental group received SP6 acupressure for the duration of each uterine contraction over a period of 30 minutes, but the control group received SP6 touch. Results: The anxiety scores between the two groups increased, but the increase was less in the SP6 acupressure group and the difference was statistically significant (p=0.019). Maternal pulse rate was not significantly different immediately after treatment (p=0.711), at 30 and at 60 minutes (p=0.140 ; p=0.108), but while the SP6 acupressure group had a stable pulse, the SP6 touch group showed an increased rate. There was no significant difference between the two groups for umbilical vein pH (p=0.124), and neonatal Apgar score at one and five minutes (p=0.387 ; p=0.979). Conclusion: These findings strengthen the belief that SP-6 acupressure can be used to relieve anxiety during labor with no side effects to either mother or baby.

• 여성건강간호학회지
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• 제30권1호
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• pp.67-78
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• 2024

Purpose: The present study investigated experiences of traumatic perinatal events, the provision of related education, and educational needs of nurses working in the labor and delivery room (LDR). Methods: Nurses working in the LDRs of six institutions and two nurse portal sites were invited to participate in the survey, delivered on paper or online. The data were collected from October 1 to November 25, 2022. Data from 129 nurses were analyzed using frequency, the chi-square test, the Fisher exact test, the t-test, and analysis of variance. Results: Virtually all participants (98.6%) reported having experienced at least one traumatic perinatal event (dystocia, postpartum hemorrhage, neonatal congenital anomalies, severe maternal or neonatal injury, stillbirth, and maternal or neonatal death) while working in the LDR. The most shocking traumatic perinatal event experienced was the maternal or neonatal death (40.3%), but 24.8% of participants did not recall ever receiving education on the topic. About 63% of participants experienced traumatic perinatal events within a year of working in the LDR. The average score for education needs regarding traumatic perinatal events was 3.67±0.37 out of 4, and participants preferred simulation education as the most effective educational method. Conclusion: Since most of the participants had experienced various traumatic perinatal events in the early stages of working in the LDR and expressed a high level of need for education on traumatic perinatal events, it is necessary to provide more effective stimulation education programs in the early period of work in the LDR.

• Journal of Yeungnam Medical Science
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• 제5권2호
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• pp.161-169
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• 1988

1. 성별 빈도는 남아 42례(1.12%), 여아 13례(0.44%)로 남아에서 여아보다 더 많이 발생 하였고 미숙아에서의 발생 빈도는 2.65%로 만삭아에서 0.76% 보다 높았다. (P<0.05) 2. 발병일 별로는 생후 4일내에 발생한 조기 발병형 신생아 패혈증은 26례(47.3%)였으며, 생후 5일 이후에 발생한 만기 발병형 신생아 패혈증은 29례(52.7%)였고, 조기발병형 신생아 패혈증에서 주산기 합병증의 빈도가 만기 발병형 신생아 패혈증보다 높았다(38.5% vs 10.3%, P<0.05). 3. 임상소견으로는 수유곤란 52.7%로써 가장 많았고 황달(45.5%), 설사(30.9%), 보챔(30.9%) 등의 순으로 나타났다. 4. 검사상 소견으로는 미성숙 백혈구수가 20% 이상인 경우와 CRP가 1+ 이상인 경우가 진단에 도움이 되었다. 5. 원인균으로는 그람 양성균이 37례, 그람음성균이 19례였으며 그람 양성균중에서는 Staphylococcus epidermidis가 23례(41.1%)로 가장 많았고 그람 음성균중에서는 E. coli가 9례(16.1%)로 가장 많았으며 조기 발병형 신생아 패혈증과 만기 발병형 신생아 패혈증간의 원인균의 차이는 없었다.

• 한국전문물리치료학회지
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• 제14권2호
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• pp.11-20
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• 2007

The development of neonatal neuromuscular system is accomplished by the functional interaction between the spinal neurons and its target cells, skeletal muscle cells, and the intrinsic and extrinsic factors affecting this process. The aim of this study was to identify the effect of suspension unloading (SU) and neuromuscular electrical stimulation (NMES) upon the development of the neonatal spinal cord. For this study, the neonatal rats were randomly divided into three groups: a control group, an experimental group I, and an experimental group II. The SU for experimental group I and II was applied from postnatal day (PD) 5 to PD 30, and the NMES for experimental group II was applied from PD 16 to PD 30 using NMES that gave isometric contraction with 10 Hz for 30 minutes twice a day. In order to observe the effect of SU and NMES, this study observed neutrophin-3 (NT-3) and microtubule associated protein 2 (MAP2) immunoreactivity in the lumbar spinal cord (L4-5) at the PD 15 and PD 30. The results are as follows. At PD 15, lumbar spinal cord of experimental group I and II had significantly lower NT-3 and MAP2 immunoreactivity than control group. It proved that a microgravity condition restricted the spinal development. At PD 30, lumbar spinal cord of control group and experimental group II had significantly higher NT-3 and MAP2 immunoreactivity than experimental group I. It proved that the NMES facilitated the spinal development by spinal cord-skeletal muscle interaction. These results suggest that weight bearing during the neonatal developmental period is essential for the development of neuromuscular development. Also, the NMES on its target skeletal muscle can encourage the development of the spinal cord system with a full supplementation of the effect of weight bearing, which is an essential factor in neonatal developmental process.

• Neonatal Medicine
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• 제17권2호
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• pp.254-261
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• 2010

신생아에서의 미토콘드리아 질환은 임상 증상이 다양하고 비특이적이라 진단이 어렵고, 치명적으로 생존율이 낮기 때문에 이에 대한 연구는 미비하다. 본 연구에서는 신생아기에 미토콘드리아 질환 소견으로 치료한 3례를 보고하였다. 증례 1은 갑작스럽게 발생한 강직성 경련, 의식 소실 및 심한 대사성 산증과다기관 기능 부전으로 미토콘드리아 병증이 의심되었다. 혈장내 젖산/피루브산염 비가 55.6, 아미노산 검사에서는 알라닌 2,237 nmol/ml로 증가되었다. 증례 2에서는 급성 부신기능부전과 급성 신부전으로 복막 투석을 하였으나 대사성 산증이 지속되었다. 혈장 내 젖산/피루브산염 비가 23.9였고, 근 조직을 이용한 효소 분석에서 1번 복합체의 호흡 사슬 결함이 진단되었다. 증례 3은 출생 후 2개월간 반복되는 대사성 산증과 기면, 수유 곤란 소견을 보였다. 혈장 내 젖산/피루브산염 비가 19.4로 정상 범위의 경계에 있었으나 뇌척수액 검사상 젖산/피루브산염 비가 57로 현저하게 증가된 소견을 보였고, 뇌 자기 공명 분광경 검사에서 lactate peak 소견을 보였다. 근 조직을 이용한 효소 분석에서 2번 복합체의 호흡 사슬 결함이 진단되었다. 세증례 모두에서 미토콘드리아 질환 소견으로 비타민, 조효소 Q10 및 L-카르니틴을 투여하였다.

• Neonatal Medicine
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• 제16권2호
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• pp.154-162
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• 2009

목 적 : 최근 신생아집중치료술의 발전으로 신생아 중환자실의 생존률은 매우 향상되었으나 아직도 신생아 중환자실 입원환아들의 사망은 지속적으로 발생하고 있다. 본 연구는 지난 10년간 서울아산병원 신생아 중환자실에 입원한 환아들 중 사망한 환아들을 분석하여 사망률, 사망원인 및 사망의 특징에 대하여 알아보고자 하였다. 방 법 : 1998년 1월부터 2007년 12월까지 10년간 서울아산병원 신생아중환자실에 입원했던 환아들을 대상으로 의무기록을 후향적으로 조사하여 사망률, 사망원인질환 및 출생 후 사망까지의 시간을 분석하였다. 결 과 : 조사기간 동안 총 입원환아는 6,289명이었고 총 사망환아는 264명으로 사망률은 4.2%였다. 총 사망환아 중 극소 저출생 체중아는 103명, 초극소 저출생 체중아는 80명이 사망하여 사망률은 각각 10.6%, 21.4%였다. 10년간 연도별 사망률의 유의한 변화추세는 보이지 않았다. 사망관련 주요질환으로 미숙아 관련 사망이 102명(38.7%)으로 가장 많았고, 선청성 기형, 패혈증, 원발성 폐동맥 고혈압, 신생아가사 순으로 나타났다. 미숙아 관련 합병증 중에서는 패혈증이 가장 많은 수를 차지하였고, 선천성 기형 중에서는 선천성 심기형으로 인한 사망이 가장 많았다. 생후 첫 1주 이내에 66명(37.1%)이 사망하여 가장 높은 사망률을 보였고, 178명(67.4%)이 생후 28일 이내의 신생아기에 사망하였다. 결 론 : 신생아 중환자 치료의 방전에도 불구하고 지난 10년간 사망률은 크게 변화하지 않았다. 미숙아관련 합병증과 패혈증이 사망원인 중 많은 부분을 차지하므로 이를 줄이는 노력이 필요할 것으로 생각된다. 또한 생후 첫 1주 이내에 사망하는 경우가 많으므로 이 시기에 신생아 중환자 치료에 있어 세심한 주의 필요할 것으로 생각된다.

• Journal of Interdisciplinary Genomics
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• 제3권1호
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• pp.21-24
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• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권3호
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• pp.193-198
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• 2016

Purpose: Spontaneous colon perforations are usually encountered as necrotizing enterocolitis in the neonatal period, but occur rarely in infants and children without pathological conditions. This study was conducted to describe its clinical implication beyond the neonatal period. Methods: Cases of spontaneous colon perforation confirmed after the operation were reviewed retrospectively and the clinicopathological characteristics were analyzed. Clinical data were compared according to the presence of pneumoperitoneum as initial findings. Results: Eleven patients were included in the study period and showed a history of hospitalization before transfer due to management for fever, respiratory or gastrointestinal problems. Six patients showed a sudden onset of abdominal distention and only seven patients showed a pneumoperitoneum as initial radiologic findings, however there were no significant clinicopathological differences. Perforation was found evenly in all segments of the colon, most commonly at the sigmoid colon in four cases. There were no specific pathologic or serologic causes of perforation. Conclusion: When previously healthy infants and children manifest a sustained fever with a sudden onset of abdominal distention during management for fever associated with respiratory or gastrointestinal problems, there is a great likelihood of colon perforation with no pathological condition. Prompt surgical management as timely decision-making is necessary in order to achieve a good progress.