• Journal of Genetic Medicine
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• v.14 no.1
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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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• v.53 no.12
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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.

• Women's Health Nursing
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• v.9 no.2
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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.

• Women's Health Nursing
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• v.30 no.1
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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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• v.5 no.2
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• pp.161-169
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• 1988

Neonatal sepsis is a frequent and important cause of morbidity and mortality in the neonatal period. This study was undertaken to observe the 55 cases of proven neonatal sepsis among 6,717 newborn infants under 4 weeks of age, admitted to the nursery of Yeungnam University Hospital from May 1, 1983 to April 30, 1988. We observed following results : 1. The morbidity rate of male(1.12%) was higher than that of female(0.44%) significantly (p<0.05). 2. The morbidity rate of prematurity(2.65%) was higher than that of full term(0.76%) significantly (p<0.05). 3. The incidence of perinatal obstetric complications in early onset neonatal sepsis was higher than that of late onset neonatal sepsis (38.5% vs 10.3%, p<0.05). 4. The common clinical manifestations were poor feeding(52.7%), jaundice(45.5%), diarrhea(30.9%) and irritability (30.9%). 5. Among the causative organisms, gram positive organisms were predominated and Staphylococcus epidermidis was the most common organism. There was no difference in the causative organisms between early onset and late onset sepsis.

• Physical Therapy Korea
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• v.14 no.2
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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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• v.17 no.2
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• pp.254-261
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• 2010

Little is known about neonatal mitochondrial disease, though mitochondrial metabolic disorders may often present in the neonatal period because of the high energy requirement of neonate. In newborn period, common presentations are not specific and the disease course may be rapid and fatal. In this study, we report three cases of neonatal mitochondrial disease. The first case was strongly suspected because of sudden seizure and mental change with severe lactic acidosis, and multiorgan failure. Plasma lactate/pyruvate (L/P) ratio was increased to 55.6 with marked lactic aciduria and increased plasma alanin up to 2,237 nmol/mL. In the second patient, a peritoneal dialysis was performed for acute adrenal and renal failure, but metabolic acidosis persisted. Plasma L/P ratio was increased to 23.9, and MRC I (mitochondrial respiratory chain defect) was diagnosed through the enzymatic analysis of the muscles. The third case showed repetitive episode of lactic acidosis during the first two months of life, hypotonia, failure to thrive and feeding difficulties. We found markedly increased cerebrospinal fluid L/P ratio up to 57 though plasma L/P ratio(19.4) was borderline with increased plasma lactate. The lactate peak was prominent in brain magnetic resonance spectroscopy (MRS). MRC II was confirmed through muscle biopsy. Plasma lactate level and lactate peak of brain MRS were normalized after conservative treatment.

• Neonatal Medicine
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• v.16 no.2
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• pp.154-162
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• 2009

Purpose: Death is an important problem for physicians and parents in neonatal intensive care unit. This study was intended to evaluate the mortality rate, causes of death, and the change of mortality rate by year for infants admitted to the neonatal intensive care unit. Methods: We retrospectively surveyed the medical records of the infants who were admitted to the neonatal intensive care unit at Asan Medical Center and who died before discharge between 1998 and 2007. Gestational age, birth weight, gender, time to death and the underlying diseases related to the causes of infant deaths and obtained from the medical records and analyzed according to year. Results: A total of 6,289 infants were admitted and 264 infants died during the study period. The overall mortality rate was 4.2%. For very low and extremely low birth weight infants, the mortality rate was 10.6% and 21.4%, respectively. There was no significant change in the mortality rate during the study period. Prematurity related complications and congenital anomalies were the conditions most frequently associated with death in the neonatal intensive care unit. of the infant deaths 37.1% occurred within the first week of life. Conclusion: Even though a remarkable improvement in neonatal intensive care has been achieved in recent years, the overall mortality rate has not changed. To reduce the mortality rate, it is important to control sepsis and prevent premature births. The first postnatal week is a critical period for deaths in the neonatal intensive care unit.

• Journal of Interdisciplinary Genomics
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• v.3 no.1
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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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• v.19 no.3
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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.