Lee, Dong-Mok;Lee, Ki-Ho;Choi, Jin Ho;Hyun, Jin Hee;Lee, Eun Ju;Bajracharya, Prati;Lee, Yong Seok;Chang, Jongsoo;Chung, Chung Soo;Choi, Inho
Asian-Australasian Journal of Animal Sciences
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v.22
no.8
/
pp.1091-1101
/
2009
In an attempt to understand the biochemical mechanism for the synthesis of the anabolic steroid, 19-nortestosterone, produced by prepubertal boar testes and its physiological role, normalized complementary DNA (cDNA) from boar testes was generated. DNA sequencing of 2,016 randomly selected clones yielded 794,116 base pairs of high quality nucleotide sequence. Computer-assisted assembly of the nucleotide sequence of each clone resulted in 423 contigs and 403 singletons including several genes for steroidogenic enzymes and molecules related to steroid metabolism. Analysis of gene expression pattern by use of the presently-fabricated cDNA microarray identified a number of genes that were differentially expressed during the postnatal development period in boar testes. Two genes of unknown function were identified to be highly expressed in the testis of 2-weeks-old neonatal boar. In addition, the sequencing of open reading frames of these genes revealed their homology with human alpha hemoglobin and Homo sapiens hypothetical LOC643669, transcript variant 1. Moreover, the transcripts of these genes were also detected in porcine muscle and adipocytes, in addition to Leydig cells of pigs.
VATER association is defined as a combination of 3 or more anomalies- vertebra (V), imperforate anus (A), esophageal atresia with or without tracheoesophageal fistula (TE), renal and radial anomaly(R). We reviewed our experiences in one center to determine etiology, prevalence, clinical manifestation, other associated anomaly and prognosis. Two hundred and twenty-three cases that underwent operations for imperforate anus or esophageal atresia were analyzed retrospectively through medical records at Department of Pediatric Surgery, Asan Medical Center from June, 1989 to July, 2005. The total number of neonates who had been admitted during period of study were 46,773 and VATER association was 9 (0.019 %, 1.92 persons per 10,000 neonates). Median gestational age and birth weight were $37^{+4}wk$ ($35^{+1}$ - $41^{+4}$) and 2,594 g (1,671-3,660), respectively and median age of mother was 32 years (23-38). There was no family history. Three patients were twins but their counterparts had no anomalies. Patients who have 3 anomalies were 6, 4 anomalies in two and 5 anomalies in one patient. Vertebra anomalies were detected in 7(77.7 %), imperforate anus in 8(88.9 %), esophageal atresia in 5 patients (55.6 %), renal anomaly in 6(66.7 %), and radial anomaly in 5(55.6 %), respectively. Four patients are alive, 2 patients were lost during follow up period. Three patients died due to neonatal sepsis, respiratory dysfunction and cardiac failure. VATER association did not appear to be a definite risk factor, but merely a randomized combination of 5 anomalies. The prognosis was dependent on the other associated anomalies, appropriateness of management and operation. Careful follow-up and aggressive treatmentare required for improving survival and quality of life.
Seo, Hee-Jung;Lee, Seong-Kyu;Baik, Haing-Woon;Lee, Ki-Ho
Journal of Animal Science and Technology
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v.54
no.3
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pp.157-163
/
2012
The male reproduction is precisely controlled by a number of intrinsic and extrinsic factors. These factors usually involve in expressional regulation of various molecules influencing on sperm production in the testis. A number of ways are employed to control the transcription of specific genes, including epigenetic modifications of DNA and histone molecules. DNA methylation of CpG dinucleotides is a commonly used regulatory mechanism for testicular genes associated with the fertility. Previous studies have demonstrated the infertility induced by improper DNA methylation of these genes. In the present research, we attempted to determine transcriptional expression of some of these genes in the rat testis at different postnatal ages using real-time PCR analysis. These genes include neurotrophin 3 (Ntf3), insulin-like growth factor II (Igf2), JmjC-domain-containing histone demethylase 2A 1 (Jhm2da), paired box 8 transcription factor (Pax8), small nuclear ribonucleoprotein polypeptide N (Snrpn), and 5,10-methylenetetrahydrofolate reductase (Mthfr). The expression levels of Ntf3, Igf2, and Snrpn genes were the highest at the neonatal age, followed by transient decreases at the prepubertal age. Expression of Jhm2da and Mthfr genes were continuously increased from the neonate to 1 year of age. The levels of Pax8 mRNA at the early ages were higher than those at the later ages of postnatal development. These findings suggest that expression of some fertility-associated testicular genes in the rat during postnatal period could be differentially regulated by the control of the degree of DNA methylation.
Cho, Won Im;Ko, Jung Min;Kang, Hee Gyung;Ha, Il-Soo;Cheong, Hae Il
Journal of Genetic Medicine
/
v.11
no.2
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pp.74-78
/
2014
Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.
Choanal atresia may be membrane or bony, unilateral or bilateral. Approximately 90% of the choanal atresia are bony type. Unilateral choanal atresia often eludes the diagnosis because of the absence of subjective symptoms in the neonatal period. However, bilateral choanal atresia presents at birth with cyclic respiratory distress aggravated by feedings. So complete bilateral choanal atresia is considered as a neonatal emergency. Examinations for the diagnosis of chonal atresia include 1) attempt at passing a rubber catheter or probe through the patient s nose, 2) mirror examination of the nasopharynx, 3) digital examination of the nasopharynx, 4) X-ray examination after installation of radiopaque materal into the nasal cavity. But, computed tomography has become accepted method for evaluation of choanal atresia. Surgical repair of choanal atresia is accomplished via transnasal or transpalatal approach. Advantages of the transpalatal approach are improved exposure and the preservation of mucosal flap along the newly formed apertures. On the other hand, the transpalatal approach carries the risk of injury to the greater palatine neurovascular complex, and requires longer operative time. After careful physical and radiographic examinations, we accomplished the surgical repair of the complete bony bilateral choanal atresia via transpalatal approach without complications.
Purpose : Hearing loss is one of the most common birth defects, and early detection and intervention positively impact language/speech and cognitive development. It has been reported that NICU graduates have a high incidence of hearing loss. So we investigated the incidence, risk factors and clinical outcome of hearing loss in NICU graduates. Methods : This study involved neonatal auditory brainstem response (ABR) testing of newborn infants who graduated from the NICU of Kyungpook National University Hospital during a 3-year period (between July 2002 and June 2005) and subsequent follow-up of these infants. Results : ABR evaluations were performed on 474 infants. Of these infants, 64 showed abnormal ABR (13.5 percent). Of 128 ears from these 64 infants, two ears (1.6 percent) and 10 ears (7.8 percent) were classified as severe and profound hearing loss, respectively. The infants with abnormal ABR had higher incidence of prematurity, low birth weight, very low birth weight, neonatal asphyxia, cranio-facial malformation and amikacin treatment over 15 days (P<0.05). In infants with hyperbilirubinemia, the peak level of serum bilirubin, duration of phototherapy and exchange transfusion were not associated with the higher incidence of hearing loss. Follow-up ABR evaluation was performed on 15 infants with abnormal ABR at $8.8{\pm}4.4months$. In follow-up ABR, 80.0% showed improvement or normalization of threshold sensitivity. Conclusion : NICU graduates exhibit high risk for hearing loss. Systemic and effective hearing assessment program is needed for these high risk infants.
Background: Remarkable progress has recently been made in achieving successful early repair of congenital heart disease with using cardiopulmonary bypass in the neonatal period. The aim of this study is to evaluate our short-term outcomes for performing neonatal cardiac surgery under extracorporeal circulation. Material and Method: Fifty five neonates underwent open heart surgery from February 2002 to December 2007. The mean ages and body weight was 13.5 days. and 3.2 kg, respectively. The diagnoses of the patients were transposition of the great arteries (14), total anomalous pulmonary venous connection (7), large ventricular septal defect (VSD) (7), coarotation of the aorta with VSD (6), interrupted aortic arch (5) and others (16). Result: Six patients had difficulties being weaned from extracorporeal circulation. Four patients left the operating room with an open sternum. Low cardiac output syndrome and acute renal insufficiency were observed in 3 patients each, respectively. Post-operative complications were observed in 27 patients (49.1%). The postoperative mortality was 12.7% (7 patients); 5 patients experienced early hospital death and 2 experienced late death (2). Conclusion: In our hospital, early surgical repair with extracorporeal circulation in neonates was feasible with tolerable mortality. Further follow-up required to establish the long-term survival and complications.
Park, Esther;Kim, Min-sun;Song, Ari;Im, Min Ji;Jang, Ja-Hyun;Kim, Ji Hye;Cho, Sung Yoon;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
/
v.18
no.1
/
pp.23-29
/
2018
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonemia. CPS1D is caused by mutations in the CPS1 gene on chromosome 2q35. Based on the age of onset, there are two phenotypes: the neonatal type and the delayed-onset type. The severity of clinical manifestation depends on the degree of CPS1 residual enzymatic activity, and can result in hyperammonemia and neurological dysfunction. We report a case of CPS1D in a neonate who developed vomiting, decreased consciousness and hyperammonemia at 25th day after birth. She showed excellent response to treatment including hydration, ammonia-lowering drugs and a low-protein diet without hemodialysis. Her growth, development and neurological outcomes were fair at the last follow-up at 17 months of age.
Park, Hwon Ham;Kim, Soo-Hong;Jung, Sung-Eun;Lee, Seong-Cheol;Park, Kwi-Won;Lee, Ji Won;Kang, Hyoung Jin;Shin, Hee Young;Baek, Hae Woon;Kim, Hyun-Young
Advances in pediatric surgery
/
v.20
no.2
/
pp.53-57
/
2014
Purpose: Neonatal neuroblastoma (NBL) is the most common malignant tumor in neonates, but there have been few studies about it. The purpose of this study was to investigate the clinical features of NBL and to compare prenatal and postnatal diagnosed groups. Methods: Nineteen patients who were diagnosed with NBL prenatally or within 28 days after birth from February 1986 to February 2013 in Seoul National University Hospital were enrolled in the study. The patients were categorized according to the International Neuroblastoma Staging System (INSS) and Children's Oncology Group (COG). Retrospective medical-record reviews were performed on these patients. The operative date, complication, pathological stage, and overall survival of the prenatally diagnosed group and the postpartum diagnosed group were compared. Results: Tumor was detected via prenatal ultrasonography in 8 patients (42.1%), and 11 patients (57.9%) were diagnosed within 28 days after birth. Based on INSS, the patients were divided into the stage I (n=8), stage II (n=1), stage III (n=3), stage IV (n=4), and stage IVs (n=3) groups, respectively. Based on COG, on the other hand, the patients were divided into the low-risk (n=8), intermediate-risk (n=8), and high-risk (n=3) groups. The postoperative complication rate was 29%. One patient died from complications from chemotherapy. The other 18 patients' mean follow-up period was 77.7 months. The differences between the postoperative complication rate, proportion of early-stage tumor, and overall survival of the prenatal and postnatal groups were not statistically significant (p=0.446, p=0.607, p=0.414). Conclusion: NBL showed favorable outcomes but relatively higher postoperative complications. There seem to be no significant statistical differences in the postoperative complications, proportion of early-stage tumor, and overall survival between the prenatally diagnosed group and the postpartum diagnosed group.
Patient-Controlled Analgesia (PCA) has been widely used for postoperative pain relief. Meperidine is useful for PCA and has efficient analgesia, rapid onset, and low incidence of adverse effect. To compare the analgesic effect, total dose and hourly dose, side effect and neonatal status of breast feeding with meperidine via intravenous or epidural PCA for 48 hours after Cesarean Section, 40 parturient women undergoing elective Cesarean Section were randomly divided into two groups. Each respective group of 20 parturient women received meperidine via one of the intravenous PCA after general anesthesia with enflurane (IVPCA group) and the epidural PCA after general anesthesia with enflurane (IVPCA group) and the epidural PCA after epidural block with 2% lidocaine 20ml combined with general anesthesia with only $N_2O$ and $O_2$ (EpiPCA group) when they first complained of pain in recovery room. Following the administration of analgesic initial dose, parturient women of IVPCA group were allowed intravenous meperidine 10 mg every 8 minutes when they felt pain. The EpiPCA group received additional bolus dose of meperidine 2 mg and bupivacaine 0.7 mg were administered every 8 minutes as requested the patients with hourly continuous infusion of meperidine 4 mg and bupivacaine 1.4 mg. Data was collected during the 48 hours observation period including visual analog scale (VAS) pain scores, total meperidine dose, hourly dose during 48 hours and each time interval, incidence of adverse effect, satisfaction, and neonatal status with breast feeding. VAS pain scores of analgesic effect in EpiPCA group was significantly lower than in IVPCA group at 2 hours after the initial pain after Cesarean Section. Total dose and hourly dose of meperidine significantly reduced in EpiPCA group. Hourly dose of meperidine at each time interval significantly reduced during first 6 hours and from 12 hours to 24 hours in EpiPCA group. The side effects in IVPCA group were mainly sedation, nausea, and local irritation of skin. And EpiPCA group experienced numbness and itching. The degree of satisfaction of parturient women was 88.2 % in IVPCA group and 85.7 % in EpiPCA group. We did not observe any sedation, abnormal behavior, or seizure like activity in any neonates of breast feeding. From the above results we conclude that epidural PCA was more efficiently analgesic, less sedative, and consumptional, and safer for neonate than intravenous PCA, and could be an alternative method to intravenous PCA.
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