There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not been reported around the world. The authors experienced a case of partial monosomy 6q and partial trisomy 14q derived from maternal reciprocal balanced translocation t (6;14) in a neonate with multiple anomalies including intrauterine growth retardation, facial and cardiac anomalies. We report the case with a brief review of associaed lieratures.
Chromosome Deletion ; Chromosomes, Human, Pair 6 ; Fetal Growth Retardation ; Humans ; Infant, Newborn ; Trisomy

PURPOSE: Taurine (2-aminoethanesulfonic acid) is a simple sulfur-containing amino acid. It is abundantly present in tissues such as brain, retina, heart, and skeletal muscles. Current studies have demonstrated the neuroprotective effects of taurine, but limited data are available for such effects during neonatal period. The aim of this study was to determine whether taurine could reduce hypoxic-ischemic (HI) cerebral injury via anti-apoptosis mechanism. METHODS: Embryonic cortical neurons isolated from Sprague-Dawley (SD) rats at 18 days gestation were cultured in vitro. The cells were divided into hypoxia group, taurine-treated group before hypoxic insult, and taurine-treated group after HI insult. In the in vivo model, left carotid artery ligation was performed in 7-day-old SD rat pups. The pups were exposed to hypoxia, administered an injection of 30 mg/kg of taurine, and killed at 1 day, 3 days, 1 week, 2 weeks, and 4 weeks after the hypoxic insult. We compared the expressions of Bcl-2, Bax, and caspase-3 among the 3 groups by using real-time polymerase chain reaction (PCR) and western blotting. RESULTS: The cells in the taurine-treated group before hypoxic insult, although similar in appearance to those in the normoxia group, were lesser in number. In the taurine-treated group, Bcl-2 expression increased, whereas Bax and caspase-3 expressions reduced. CONCLUSION: Taurine exerts neuroprotective effects onperinatal HI brain injury due to its anti-apoptotic effect. The neuroprotective effect was maximal at 1-2 weeks after the hypoxic injury.
Animals ; Anoxia ; Apoptosis ; Blotting, Western ; Brain ; Brain Injuries ; Carotid Arteries ; Caspase 3 ; Heart ; Ligation ; Muscle, Skeletal ; Neurons ; Neuroprotective Agents ; Pregnancy ; Rats ; Real-Time Polymerase Chain Reaction ; Retina ; Taurine

PURPOSE: Erythropoietin (EPO) has neuroprotective effects in many animal models of brain injury, including hypoxic-ischemic (HI) encephalopathy, trauma, and excitotoxicity. Current studies have demonstrated the neuroprotective effects of EPO, but limited data are available for the neonatal periods. Here in we investigated whether recombinant human EPO (rHuEPO) can protect the developing rat brain from HI injury via modulation of NMDA receptors. METHODS: In an in vitro model, embryonic cortical neuronal cell cultures from Sprague- Dawley (SD) rats at 19-days gestation were established. The cultured cells were divided into five groups: normoxia (N), hypoxia (H), and 1, 10, and 100 IU/mL rHuEPO-treated (H+E1, H+ E10, and H+E100) groups. To estimate cell viability and growth, a 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-tetrazolium bromide (MTT) assay was done. In an in vivo model, left carotid artery ligation was performed on 7-day-old SD rat pups. The animals were divided into six groups; normoxia control (NC), normoxia Sham-operated (NS), hypoxia- ischemia only (H), hypoxia-ischemia+vehicle (HV), hypoxia-ischemia+rHuEPO before a HI injury (HE-B), and hypoxia-ischemia+rHuEPO after a HI injury (HE-A). The morphologic changes following brain injuries were noted using hematoxylin and eosin (H/E) staining. Real-time PCR using primers of subunits of NMDA receptors (NR1, NR2A, NR2B, NR2C and NR2D) mRNA were performed. RESULTS: Cell viability in the H group was decreased to less than 60% of that in the N group. In the H+E1 and H+E10 groups, cell viability was increased to >80% of the N group, but cell viability in the H+E100 group did not recover. The percentage of the left hemisphere area compared the to the right hemisphere area were 98.9% in the NC group, 99.1% in the NS group, 57.1% in the H group, 57.0% in the HV group, 87.6% in the HE-B group, and 91.6% in the HE-A group. Real-time PCR analysis of the expressions of subunits of NMDA receptors mRNAs in the in vitro and in vivo neonatal HI brain injuries generally revealed that the expression in the H group was decreased compared to the N group and the expressions in the rHuEPO-treated groups was increased compared to the H group. CONCLUSION: rHuEPO has neuroprotective property in perinatal HI brain injury via modulation of N-methyl-D-aspartate receptors.
Animals ; Anoxia ; Brain ; Brain Injuries ; Carotid Arteries ; Cell Culture Techniques ; Cell Survival ; Cells, Cultured ; Eosine Yellowish-(YS) ; Erythropoietin ; Hematoxylin ; Humans ; Ischemia ; Ligation ; Models, Animal ; N-Methylaspartate ; Neurons ; Neuroprotective Agents ; Pregnancy ; Rats ; Real-Time Polymerase Chain Reaction ; Receptors, N-Methyl-D-Aspartate ; RNA, Messenger

PURPOSE: Taurine is a simple sulfur-containing amino acid and enriched in brain, retina, heart and skeletal muscles. In the central nervous system, taurine has been implicated in major phenomena. Current studies have demonstrated the neuroprotective effect of taurine in adult rat model, but limited data are available for those during the neonatal periods. The aim of this study was to determine whether taurine could reduce hypoxic-ischemic (HI) brain injury in the developing brain via modulation of nitric oxide synthase. METHODS: In in vitro model, embryonic cortical neuronal cell culture procedure was done in Sprague-Dawley (SD) rats at 18 days of gestation. The cells were divided into the hypoxia group, taurine-treated group before and after a hypoxic insult. The each groups compared with normoxia group. In in vivo model, left carotid artery ligation was done in 7-day-old SD rat pups. the pups were exposed to hypoxia, received an injection of 30 mg/kg of taurine, and sacrificed at day 1, day 3, day 7, day 14 and day 28. We assayed the expression of iNOS, eNOS and nNOS mRNA using real-time PCR and western-blotting. RESULTS: In in vitro model, brain cell damage of hypoxia group was more than in the normoxia group. Cell damage's recovery was more in the taurine-treated group before a hypoxic insult than in the taurine-treated group after a hypoxic insult. The expression of iNOS mRNA was less in the hypoxia group than in the normoxia group both in vitro and in vivo models. The expression of eNOS and nNOS was more in the hypoxia group. CONCLUSION: Taurine has neuroprotective property over perinatal HI brain injury due to modulation of NOS, as evidenced by causing a decrease in eNOS and nNOS and increase in iNOS expression. The neuroprotective effect of taurine administration was maximal at day 7 and day 14 after a hypoxic injury.
Adult ; Animals ; Anoxia ; Brain ; Brain Injuries ; Carotid Arteries ; Cell Culture Techniques ; Central Nervous System ; Heart ; Humans ; Ligation ; Muscle, Skeletal ; Neurons ; Neuroprotective Agents ; Nitric Oxide ; Nitric Oxide Synthase ; Pregnancy ; Rats ; Real-Time Polymerase Chain Reaction ; Retina ; RNA, Messenger ; Taurine

There are few cases of partial trisomy of 9q, known as partial 9q trisomy syndrome with low birth weight, microcephaly, hypotelorism, beaked nose, small lip, long finger, hypertrophic pyloric stenosis, ventricular septal defect, and mental retardation. We report partial trisomy of 9q derived from a paternal chromosome, which has different features of other syndromes, including prematurity, atrial and ventricular septal defect, patent ductus arteriosus, persistent left superior vena cava, congenital hydronephrosis, and scrotal hernia
Animals ; Beak ; Chromosomes, Human, Pair 9 ; Ductus Arteriosus, Patent ; Fingers ; Heart Septal Defects, Ventricular ; Humans ; Hydronephrosis ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Lip ; Microcephaly ; Nose ; Pyloric Stenosis, Hypertrophic ; Trisomy ; Vena Cava, Superior

PURPOSE: Transforming growth factor (TGF)-beta1 reportedly increases neuronal survival by inhibiting the induction of inducible nitric oxide synthase (NOS) in astrocytes and protecting neurons after excitotoxic injury. However, the neuroprotective mechanism of TGF-beta1 on hypoxic-ischemic (HI) brain injury in neonatal rats is not clear. The aim of this study was to determine whether TGF-beta1 has neuroprotective effects via a NO-mediated mechanism and N-methyl-D-aspartate (NMDA) receptor modulation on perinatal HI brain injury. METHODS: Cortical cells were cultured using 19-day-pregnant Sprague-Dawley (SD) rats treated with TGF-beta1 (1, 5, or 10 ng/mL) and incubated in a 1% O2 incubator for hypoxia. Seven-day-old SD rat pups were subjected to left carotid occlusion followed by 2 h of hypoxic exposure (7.5% O2). TGF-beta1 (0.5 ng/kg) was administered intracerebrally to the rats 30 min before HI brain injury. The expressions of NOS and NMDA receptors were measured. RESULTS: In the in vitro model, the expressions of endothelial NOS (eNOS) and neuronal NOS (nNOS) increased in the hypoxic group and decreased in the 1 ng/mL TGF-beta1-treated group. In the in vivo model, the expression of inducible NOS (iNOS) decreased in the hypoxia group and increased in the TGF-beta1-treated group. The expressions of eNOS and nNOS were reversed compared with the expression of iNOS. The expressions of all NMDA receptor subunits decreased in hypoxia group and increased in the TGF-beta1-treated group except NR2C. CONCLUSION: The administration of TGF-beta1 could significantly protect against perinatal HI brain injury via some parts of the NO-mediated or excitotoxic mechanism.
Animals ; Anoxia ; Astrocytes ; Brain ; Brain Injuries ; Incubators ; Ischemia ; N-Methylaspartate ; Neurons ; Neuroprotective Agents ; Nitric Oxide ; Nitric Oxide Synthase ; Nitric Oxide Synthase Type II ; Rats ; Receptors, N-Methyl-D-Aspartate ; Transforming Growth Factor beta1 ; Transforming Growth Factors

PURPOSE: Transforming growth factor (TGF)-beta1 reportedly increases neuronal survival by inhibiting the induction of inducible nitric oxide synthase (NOS) in astrocytes and protecting neurons after excitotoxic injury. However, the neuroprotective mechanism of TGF-beta1 on hypoxic-ischemic (HI) brain injury in neonatal rats is not clear. The aim of this study was to determine whether TGF-beta1 has neuroprotective effects via a NO-mediated mechanism and N-methyl-D-aspartate (NMDA) receptor modulation on perinatal HI brain injury. METHODS: Cortical cells were cultured using 19-day-pregnant Sprague-Dawley (SD) rats treated with TGF-beta1 (1, 5, or 10 ng/mL) and incubated in a 1% O2 incubator for hypoxia. Seven-day-old SD rat pups were subjected to left carotid occlusion followed by 2 h of hypoxic exposure (7.5% O2). TGF-beta1 (0.5 ng/kg) was administered intracerebrally to the rats 30 min before HI brain injury. The expressions of NOS and NMDA receptors were measured. RESULTS: In the in vitro model, the expressions of endothelial NOS (eNOS) and neuronal NOS (nNOS) increased in the hypoxic group and decreased in the 1 ng/mL TGF-beta1-treated group. In the in vivo model, the expression of inducible NOS (iNOS) decreased in the hypoxia group and increased in the TGF-beta1-treated group. The expressions of eNOS and nNOS were reversed compared with the expression of iNOS. The expressions of all NMDA receptor subunits decreased in hypoxia group and increased in the TGF-beta1-treated group except NR2C. CONCLUSION: The administration of TGF-beta1 could significantly protect against perinatal HI brain injury via some parts of the NO-mediated or excitotoxic mechanism.
Animals ; Anoxia ; Astrocytes ; Brain ; Brain Injuries ; Incubators ; Ischemia ; N-Methylaspartate ; Neurons ; Neuroprotective Agents ; Nitric Oxide ; Nitric Oxide Synthase ; Nitric Oxide Synthase Type II ; Rats ; Receptors, N-Methyl-D-Aspartate ; Transforming Growth Factor beta1 ; Transforming Growth Factors

OBJECTIVE: Resveratrol, a polyphenolic phytoalexin, is extracted abundantly from the red wine and grapes and biosynthesized as a defense agent to infection, ultraviolet and ozon etc. Recently, The cancer-preventive, anti-inflammatory and anti-oxidative effects of resveratrol have been reported. The aim of this study was to investigate the effect of resveratrol on the expression of nitric oxide synthases in hypoxic-ischemic brain injury in the neonatal rat model. METHODS: Embryonic cortical neuronal cell culture of rat brain was performed with pregnant Sprague-Dawley (SD) rats at 18 days of gestation (E18) for in vitro approaches. In addition, unilateral carotid artery ligation was induced in seven-days old neonatal rats for in vivo approaches. The real-time PCR using iNOS, eNOS and nNOS primer, and the western blotting using the same antibodies were done to identify the effects of resveratrol. RESULTS: The expression of iNOS, eNOS and nNOS in both cell culture and animal model of neonatal HI brain injury revealed that, as indicated by western blotting and real-time PCR, the expression of iNOS was decreased in the hypoxia group while those of eNOS and nNOS were increased in the hypoxia group compared with the normoxia group. The expression of iNOS was increased in the resveratrol-treated group while those of eNOS and nNOS decreased in the resveratrol-treated group compared with a hypoxic group. CONCLUSION: The present study demonstrates resveratrol might affect nitric oxide synthases expression in HI injury of the perinatal period
Animals ; Anoxia ; Antibodies ; Blotting, Western ; Brain ; Brain Injuries ; Carotid Arteries ; Cell Culture Techniques ; Ligation ; Models, Animal ; Neurons ; Nitric Oxide ; Pregnancy ; Rats ; Real-Time Polymerase Chain Reaction ; Sesquiterpenes ; Stilbenes ; Vitis ; Wine

Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features and congenital malformations. His karyotype was 46,XY, add(12)(p13.3). He has suffered from intrauterine growth restriction at birth. He showed abnormal cranio-facial findings such as microcephaly, hypognathia, clepft palate and low set ear. He presented with absence of uvula, micropenis and rocker bottom features of both feet, congenital heart disease, poor corticomedullary differentiation of kidney, and sensorineuronal hearing loss. We have been follow up him for seizure disorder and delayed development at out patient department.
Chromosomes, Human, Pair 12 ; Ear ; Epilepsy ; Follow-Up Studies ; Foot ; Genital Diseases, Male ; Hearing Loss ; Heart Diseases ; Humans ; Karyotype ; Kidney ; Microcephaly ; Palate ; Parturition ; Penis ; Uvula

PURPOSE: Resveratrol, extracted from red wine and grapes, has an anti-cancer effect, an antiinflammatory effect, and an antioxidative effect mainly in heart disease and also has neuroprotective effects in the adult animal model. No studies for neuroprotective effects during the neonatal periods have been reported. Therefore, we studied the neuroprotective effect of resveratrol on hypoxic-ischemic brain damage in neonatal rats via anti-apoptosis. METHODS: Embryonic cortical neuronal cell culture of rat brain was performed using pregnant Sprague-Dawley (SD) rats at 18 days of gestation (E1 8) for the in vitro approach. We injured the cells with hypoxia and administered resveratrol (1, 10, and 30 microg/mL) to the cells at 30 minutes before hypoxic insults. In addition, unilateral carotid artery ligation with hypoxia was induced in 7 -day-old neonatal rats for the in vivo approach. We injected resveratrol (30 mg/kg) intraperitoneally into animal models. Real-time PCR and Western blotting were performed to identify the neuroprotective effects of resveratrol through anti-apoptosis. RESULTS: In the in vitro approach of hypoxia, the expression of Bax, caspase-3, and the ratio of Bax/Bcl-2, indicators of the level of apoptosis, were significantly increased in the hypoxia group compared to the normoxia group. In the case of the resveratrol-treated group, expression was significantly decreased compared to the hypoxia group. And the results in the in vivo approach were the same as in the in vitro approach. CONCLUSION: The present study demonstrates that resveratrol plays neuroprotective role in hypoxic-ischemic brain damage during neonatal periods through the mechanism of anti-apoptosis.
Adult ; Animals ; Anoxia ; Apoptosis ; Blotting, Western ; Brain ; Brain Injuries ; Carotid Arteries ; Caspase 3 ; Cell Culture Techniques ; Heart Diseases ; Humans ; Infant, Newborn ; Ligation ; Models, Animal ; Neurons ; Neuroprotective Agents ; Pregnancy ; Rats ; Real-Time Polymerase Chain Reaction ; Stilbenes ; Vitis ; Wine