Respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) remain major acute and chronic postnatal lung diseases in the Neonatal Intensive Care Unit. RDS and BPD are multifactorial diseases influenced by genetic factors. Specific genetic variants contributing to the regulation of pulmonary development, structure and function or inflammatory response, and host defense mechanism can be risk factors for the development of RDS and/or BPD. This review summarizes recent association studies of genetic polymorphisms with RDS and BPD. In addition, we analyze the genetic differences among various study populations to identify potential candidate genes for susceptibility to RDS and BPD in Korean preterm infants.
Bronchopulmonary Dysplasia ; Humans ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Lung Diseases ; Polymorphism, Genetic ; Risk Factors

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in genes encoding surfactant-associated molecules have confirmed this. Specific genetic variants contributing to the regulation of pulmonary development, its structure and function, or the inflammatory response could be candidate risk factors for the development of RDS. This review summarizes the background that suggests the genetic predisposition of RDS, the identified mutations, and candidate genetic polymorphisms of pulmonary surfactant proteins associated with RDS.
Genetic Predisposition to Disease ; Humans ; Infant, Newborn ; Infant, Premature ; Polymorphism, Genetic ; Pulmonary Surfactant-Associated Proteins ; Pulmonary Surfactants ; Risk Factors* ; Twins

Liver is generally known as an organ which is most commonly involved by the metastic tumors. According to the tendency of using fine needle aspiration in the diagnosis of hepatic tumors, the differentital diagnosis between hepatocellular carcinoma and metastatic carcinoma frequently has been a main issue in the poorly differentitated cases, especially to the pathologists of Korea, an endemic area of hepatocellular carcinoma. Until now the problem has been usually solved by the comparison of cytologic characteristics of their tumor cells but not by background cytologic features which rarely have been studied. We observed the background cytologic features helpful for the differential diagnosis through the analysis of 20 cases who had confirmed primary cancer and were diagnosed as metastatic carcinomas in the liver by fine needle aspiration cytology. Twenty cases included 9 adenocarcinomas, 7 spuamous cell carcinomas, 1 small cell carcinoma, 1 carcinoid, 1 adenoid cystic carcinoma, and 1 renal cell cacinoma. Analysis of background cytologic features revealed that 77% of adenocacinoma cases showed benign mesenchymal components and hepatocytes and spuamous cell carcinoma cases disclosed benign mesenchymal tissue (71%) and necrosis (57%). Remaining cases showed variable combinations of benign mesenchymal component, necrosis, hepatocytes, and bile duct epithelial cells. No case revealed atypical hepatocytic naked nuclei, a useful cytologic finding of hepatocellular carcinoma. In summary, the background cytologic features more commonly observed in metastatic carcinomas than in the hepatocellular carcinoma were benign mesenchymal components, hepatocytes, necrosis, and bile duct epithelium. The endothelial cells and hepatocytic naked nuclei, two relatively specific findings of hepatocellular carcinoma were not observed except for renal cell carcinoma. Above background cytologic features are thought to be helpful for the differential diagnosis between the hepatocellular carcinoma and various metastatic carcinomas in the poorly differentiated cases.
Adenocarcinoma ; Bile Ducts ; Biopsy, Fine-Needle ; Carcinoid Tumor ; Carcinoma, Adenoid Cystic ; Carcinoma, Hepatocellular ; Carcinoma, Renal Cell ; Carcinoma, Small Cell ; Diagnosis ; Diagnosis, Differential ; Endothelial Cells ; Epithelial Cells ; Epithelium ; Hemolytic-Uremic Syndrome* ; Hepatocytes ; Korea ; Liver ; Necrosis ; Pneumococcal Infections* ; Ulnar Nerve

No abstract available.
Humans ; Infant, Newborn ; Infant, Premature ; Surface-Active Agents

Cephalhematoma is one of the common birth traumas; 0.4% to 2.5% of newborns are reported have cephalhematoma after birth. Most of these lesions improve spontaneously without any medical intervention. Cephalhematoma occurs by the injury of subperiosteal vessels of the skull. In cases related to genetic coagulation factor deficiency, where there were no recruitment of instruments, such as, forceps or vacuums during delivery, only 2% of newborns were diagnosed with cerebral hemorrhage, which are types of intracranial or subgaleal hemorrhage. Here, we have reported the case of newborn with hemophilia B. This patient was born without any issues during vaginal delivery, and was discharged on the 3rd day after birth. Three days later, on the sixth day after birth, the patient was admitted due to neonatal jaundice, anemia and worsened cephalhematoma.

Cephalhematoma is one of the common birth traumas; 0.4% to 2.5% of newborns are reported have cephalhematoma after birth. Most of these lesions improve spontaneously without any medical intervention. Cephalhematoma occurs by the injury of subperiosteal vessels of the skull. In cases related to genetic coagulation factor deficiency, where there were no recruitment of instruments, such as, forceps or vacuums during delivery, only 2% of newborns were diagnosed with cerebral hemorrhage, which are types of intracranial or subgaleal hemorrhage. Here, we have reported the case of newborn with hemophilia B. This patient was born without any issues during vaginal delivery, and was discharged on the 3rd day after birth. Three days later, on the sixth day after birth, the patient was admitted due to neonatal jaundice, anemia and worsened cephalhematoma.

Cephalhematoma is one of the common birth traumas; 0.4% to 2.5% of newborns are reported have cephalhematoma after birth. Most of these lesions improve spontaneously without any medical intervention. Cephalhematoma occurs by the injury of subperiosteal vessels of the skull. In cases related to genetic coagulation factor deficiency, where there were no recruitment of instruments, such as, forceps or vacuums during delivery, only 2% of newborns were diagnosed with cerebral hemorrhage, which are types of intracranial or subgaleal hemorrhage. Here, we have reported the case of newborn with hemophilia B. This patient was born without any issues during vaginal delivery, and was discharged on the 3rd day after birth. Three days later, on the sixth day after birth, the patient was admitted due to neonatal jaundice, anemia and worsened cephalhematoma.

Cephalhematoma is one of the common birth traumas; 0.4% to 2.5% of newborns are reported have cephalhematoma after birth. Most of these lesions improve spontaneously without any medical intervention. Cephalhematoma occurs by the injury of subperiosteal vessels of the skull. In cases related to genetic coagulation factor deficiency, where there were no recruitment of instruments, such as, forceps or vacuums during delivery, only 2% of newborns were diagnosed with cerebral hemorrhage, which are types of intracranial or subgaleal hemorrhage. Here, we have reported the case of newborn with hemophilia B. This patient was born without any issues during vaginal delivery, and was discharged on the 3rd day after birth. Three days later, on the sixth day after birth, the patient was admitted due to neonatal jaundice, anemia and worsened cephalhematoma.

Cephalhematoma is one of the common birth traumas; 0.4% to 2.5% of newborns are reported have cephalhematoma after birth. Most of these lesions improve spontaneously without any medical intervention. Cephalhematoma occurs by the injury of subperiosteal vessels of the skull. In cases related to genetic coagulation factor deficiency, where there were no recruitment of instruments, such as, forceps or vacuums during delivery, only 2% of newborns were diagnosed with cerebral hemorrhage, which are types of intracranial or subgaleal hemorrhage. Here, we have reported the case of newborn with hemophilia B. This patient was born without any issues during vaginal delivery, and was discharged on the 3rd day after birth. Three days later, on the sixth day after birth, the patient was admitted due to neonatal jaundice, anemia and worsened cephalhematoma.

Hypothermia in preterm infants on admission to neonatal intensive care units remains an issue. Initial hypothermia was found to be one of the important risk factors for increased mortality and morbidity in preterm infants. Smaller size and more immaturity are associated with increased vulnerability to the cold environment of delivery rooms. To prevent heat loss after birth, the treatment recommendations that were recently added are increasing delivery room temperature and immediate use of plastic covering and hats. This review summarizes up-to-date studies of the background and strategies for preventing hypothermia of preterm infants.
Body Temperature Regulation ; Body Temperature* ; Delivery Rooms ; Humans ; Hypothermia ; Infant ; Infant, Newborn ; Infant, Premature* ; Intensive Care Units, Neonatal ; Mortality ; Parturition ; Plastics ; Risk Factors