We experienced a case of congenital goiter with congenital hypothyroidism in 45 day-old male, who complained of respiratory difficulty and anterior neck mass. After admission, he was diagnosed congenital hypothyroidism by the clinical manifestations and laboratory tests including biochemistry, radioimmunoassay, radioisotope study, perchlorate discharge test, and bone radiography. We obtained positive finding at the perchlorate discharge test and found that his congenital goiter with congenital hypothyroidism was manifested by organification defect. We started treatment with L-thyroxine orally at 6th hospital day. The case was presented with brief review of literatures.
Biochemistry ; Congenital Hypothyroidism* ; Goiter* ; Humans ; Male ; Neck ; Radiography ; Radioimmunoassay ; Thyroxine

Respiratory distress syndrome (RDS) of preterm infants remains a significant cause of morbidity and mortality despite improvements in neonatal intensive care and artificial ventilatory techniques. After identification of the deficiency of pulmonary surfactant is major pathophysiologic basis in RDS, artificial surfactant replacement therapy in RDS was first successfully tested by Fujiwara and co-workers in 1980. therefore, exogenous surfactant replacement produced exellent results in improved clinical and repiratory status during the acute period and decreased incidence of late complications and mortality. According to comparison of administration timing between early (within 6 hours after birth) and late (after 6 hours)group, early replacement therapy is more effective in improving of clinical course and prognosis. Because of that, early, just after birth, recognition and detection of RDS is also important procedure. There are many investigations and methods for the detection of RDS in prenatal or postnatal period. Among then, stable microbubble rating (SMR) test was a simple method and SMR test has a higher diagnostic accuracy. To determine the relation of the SMR and purified natural surfactant (PNS) concentration in vitro, the author conducted each 5 times test of SMR method according to 5 groups of PNS concentration by using modified Pattle's method. The results were as follows: 1) The mean and standard deviation of SMR according to 5 groups of PNS concentration were 119.4 (15.0in 20mug PL (phospholipid)/ml, 452.2 (160.2 in 40mug PL/ml, 879.0 (93.4 in 60mug PL/ml, 1311.8 (274.8in80mug PL/ml, 1710.6(272.3 in 100mug PL/ml. 2) The regression curve of SMR and PNS concentration showed statistically significant relation(p<0.005). In conclusion, the SMR test was a good method in estimation of surfactant concentration in vitro and also in diagnosis of RDS recognized as a surfactant deficiency. In the future, we expected that prophylactic surfactant replacement therapy. immediate after birth, will be more popular in the field of neonatal care of RDS. So, we recommended the use of this method for early detection and serving optimal care of RDS.
Diagnosis ; Humans ; Incidence ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Microbubbles* ; Mortality ; Parturition ; Prognosis ; Pulmonary Surfactants*

BACKGROUND: The clinical efficacy and safety of fludarabine combination chemotherapy was investigated for the treatment of previously untreated patients with low-grade (NHL). METHODS: Twenty-five patients who were newly diagnosed as low-grade NHL were treated with fludarabine combination chemotherapy. Fludarabine combination regimens consisted of fludarabine, mitoxantrone and dexamethasone or fludarabine, cyclophosphamide and mitoxantrone with or without rituximab and repeated every 4 weeks. RESULTS: The median age was 60 years (range, 35-77 years), with 13 of 25 patients (52%) > or =60 years of age. Seven of 25 patients (28%) with an intermediate risk follicular lymphoma international prognostic index (FLIPI) and 9 of 25 patients (36%) with a high risk FLIPI were enrolled in this study. The delivered median number of chemotherapy was six (range, 2-9 cycles). The overall response rate with fludarabine-based treatment was 88%, including 52% complete remission and 36% partial remission. During the median follow-up of 19 months, the estimated 2-year event-free survival was 63+/-10% (95% CI, 43-83) and the 2-year overall survival was 78+/-9% (95% CI, 60-96). Fludarabine combination chemotherapy was frequently associated with grade 3 or 4 neutropenia in 84% patients. However, neutropenic infection was observed in only one (4%) patient. Four patients (16%) showed grade 3 or more non-hematologic toxicities, such as acute coronary syndrome, intracranial hemorrhage, anaphylaxis and gastric cancer. CONCLUSION: Fludarabine-combination treatment was a highly active regimen with well toleration in untreated low-grade NHL.
Acute Coronary Syndrome ; Anaphylaxis ; Antibodies, Monoclonal, Murine-Derived ; Cyclophosphamide ; Dexamethasone ; Disease-Free Survival ; Drug Therapy, Combination ; Follow-Up Studies ; Humans ; Intracranial Hemorrhages ; Lymphoma ; Lymphoma, Follicular ; Lymphoma, Non-Hodgkin ; Mitoxantrone ; Neutropenia ; Vidarabine ; Rituximab

Melanogenesis is the production of melanin from tyrosine by a series of enzyme-catalyzed reactions, in which tyrosinase and DOPA oxidase play key roles. The melanin content in the skin determines skin pigmentation. Abnormalities in skin pigmentation lead to various skin pigmentation disorders. Recent research has shown that the expression of EMP2 is much lower in melanoma than in normal melanocytes, but its role in melanogenesis has not yet been elucidated. Therefore, we investigated the role of EMP2 in the melanogenesis of MNT1 human melanoma cells. We examined TRP-1, TRP-2, and TYR expression levels during melanogenesis in MNT1 melanoma cells by gene silencing of EMP2. Western blot and RT-PCR results confirmed that the expression levels of TYR and TRP-2 were decreased when EMP2 expression was knocked down by EMP2 siRNA in MNT1 cells, and these changes were reversed when EMP2 was overexpressed. We verified the EMP2 gene was knocked out of the cell line (EMP2 CRISPR/Cas9) by using a CRISPR/Cas9 system and found that the expression levels of TRP-2 and TYR were significantly lower in the EMP2 CRISPR/Cas9 cell lines. Loss of EMP2 also reduced migration and invasion of MNT1 melanoma cells. In addition, the melanosome transfer from the melanocytes to keratinocytes in the EMP2 KO cells cocultured with keratinocytes was reduced compared to the cells in the control coculture group. In conclusion, these results suggest that EMP2 is involved in melanogenesis via the regulation of TRP-2 expression.