Objective: The study aimed to investigate whether RSPO2 gene polymorphisms are associated with schizophrenia susceptibility, focusing on five specific single nucleotide polymorphisms (SNPs). Additionally, the study evaluated the expression of Rspo2 in a schizophrenic-like mouse model and examined its relationship with clinical symptoms. Methods: The study included 159 schizophrenia patients and 448 controls. Clinical symptoms were assessed using the Operational Criteria Checklist for Psychotic Illness. Genotyping of five RSPO2 SNPs was performed to identify potential genetic associations with schizophrenia. Rspo2 mRNA expression levels were measured in the brains of MK-801-induced schizophrenic-like mice. Functional analysis of the rs374810 SNP was conducted using a luciferase assay to evaluate its effect on gene activity. Statistical analyses were used to compare genotype and allele frequencies and assess correlations with clinical outcomes. Results: Significant associations were found between schizophrenia and two SNPs, rs374810 and rs423940. The A allele of rs374810 and the T allele of rs423940 were linked to an increased risk of schizophrenia (p=0.0049 and p=0.0044, respectively). Functional analysis revealed that the A allele of rs374810 significantly increased luciferase activity compared to the G allele, indicating a potential functional role. RSPO2 expression was also altered in the schizophrenic-like mouse model, suggesting its involvement in schizophrenia pathogenesis. Conclusion The findings indicate that RSPO2 gene polymorphisms, particularly rs374810 and rs423940, may contribute to schizophrenia susceptibility. Therefore, RSPO2 expression may be associated with the susceptibility to schizophrenia in the Korean population.

Aged ; California ; Dementia ; Depression ; Family Characteristics ; Humans ; Interpersonal Relations ; Loneliness ; Mass Screening ; Statistics as Topic

A 14-month-old girl presented with petechial skin lesions and polydipsia was diagnosed as Langerhans cell histiocytosis (LCH) and responded fairly well to multiple chemotherapies using vincristine, cyclophosphamide, and prednisone. 3 years later, relapses were more common with short periods of remissions in spite of using more intensive therapy with vinblatine and etoposide. At age of 4.5, sudden weight gain and abnormal behavior led to MRI study and revealed an hypothalamic mass. Radiation of 1, 800 cGy was given to the mass and followed by a 75% decrease in measuring and remission of the obesity. Although, there was no evidence of tumor progression in the hypothalamus, she died of sepsis due to systemic progression of the disease at age of 5. LCH commonly present with the symptoms of diabetes insipidus, but hypothalamic mass is not common. We report this case with a brief review of literatures.
Cyclophosphamide ; Diabetes Insipidus ; Drug Therapy ; Etoposide ; Female ; Histiocytosis, Langerhans-Cell* ; Humans ; Hypothalamus ; Infant ; Magnetic Resonance Imaging ; Obesity ; Polydipsia ; Prednisone ; Recurrence ; Sepsis ; Skin ; Vincristine ; Weight Gain

BACKGROUND: Hydatidiform mole (H-mole) is characterized by the neoplastic proliferation of trophoblasts. Only 1~10% of patients with partial H-mole will develop a trophoblastic tumor, but 18~29% of those with complete H-mole will develop a persistent trophoblastic tumor. Therefore, the early diagnosis and monitoring after operation of an H-mole disease are very important. Recently, the pregnancy associated plasma protein-A (PAPP-A) was proved to have a similar role as that of IGF binding protein-4 (IGFBP-4) protease, which has shown an increasing function in fetal growth and development by degradation of IGFBP-4 and an increase in IGF in the serum during pregnancy. Our hypothesis is "the H-mole, which shows placental hyperplasia will also have an IGFBP-4 protease activity, which may be used as in the early diagnosis and monitoring of H-mole disease". METHODS: Serum samples from 6 non-pregnant, 18 pregnant (5 in the 1st trimester, 10 in the 2nd, and 3 in the 3rd), 12 postpartum women and 3 H-mole patients(2 with complete H-mole and 1with partial H-mole) were collected and measured for the -HCG, IGF and PAPP-A levels and IGFBP-4 protease activities by a IGF-II ligand blot analysis and electrophoresis method. The IGFBP-4 protease activity of the serum during normal pregnancy was compared with that of H-mole disease. RESULTS: The results from the in vitro protease assays using recombinant IGFBP-4 determined that IGFBP-4 proteolysis was significantly increased during the first (56%) and second trimesters (90%), but reached a plateau by the third trimester (94%). In H-mole disease diagnosed 11 weeks after conception, the IGFBP-4 proteolytic activity was 97%, which was nearly the same as at terminal pregnancy. This activity gradually decreased to 75% at 1 week, 58.7% at 2 and 33% at 3 weeks after the operation. The -HCG was also decreased from 490,400 to 123,822.7, 1,352.3, and 128.5 mIU/mL at 1, 2 and 3 weeks after the operation, respectively. The PAPP-A level also gradually decreased from 34.87 to 25.5, 12.0 and 2.7 g/mL 1, 2 and 3 weeks after the operation, respectively. However, the IGF decreased from 238.3 to 172.9 ng/mL 1 week after the operation, but increased to 251.4 and 295 ng/mL at 2 and 3 weeks after the operation, respectively. CONCLUSION: These results demonstrated that the IGFBP-4 protease activity was significantly increased during pregnancy, and was extremely elevated durimg the early stages of H-mole disease, but gradually decreased after removal of molar tissue. Therefore, measuring the IGFBP-4 protease activity may play an important role in the early diagnosis and monitoring of H-mole disease
Early Diagnosis ; Electrophoresis ; Female ; Fertilization ; Fetal Development ; Humans ; Hydatidiform Mole ; Hyperplasia ; Insulin-Like Growth Factor Binding Protein 4 ; Insulin-Like Growth Factor II ; Molar ; Plasma ; Postpartum Period ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Pregnancy-Associated Plasma Protein-A ; Proteolysis ; Trophoblastic Neoplasms ; Trophoblasts

BACKGROUND: Hydatidiform mole (H-mole) is characterized by the neoplastic proliferation of trophoblasts. Only 1~10% of patients with partial H-mole will develop a trophoblastic tumor, but 18~29% of those with complete H-mole will develop a persistent trophoblastic tumor. Therefore, the early diagnosis and monitoring after operation of an H-mole disease are very important. Recently, the pregnancy associated plasma protein-A (PAPP-A) was proved to have a similar role as that of IGF binding protein-4 (IGFBP-4) protease, which has shown an increasing function in fetal growth and development by degradation of IGFBP-4 and an increase in IGF in the serum during pregnancy. Our hypothesis is "the H-mole, which shows placental hyperplasia will also have an IGFBP-4 protease activity, which may be used as in the early diagnosis and monitoring of H-mole disease". METHODS: Serum samples from 6 non-pregnant, 18 pregnant (5 in the 1st trimester, 10 in the 2nd, and 3 in the 3rd), 12 postpartum women and 3 H-mole patients(2 with complete H-mole and 1with partial H-mole) were collected and measured for the -HCG, IGF and PAPP-A levels and IGFBP-4 protease activities by a IGF-II ligand blot analysis and electrophoresis method. The IGFBP-4 protease activity of the serum during normal pregnancy was compared with that of H-mole disease. RESULTS: The results from the in vitro protease assays using recombinant IGFBP-4 determined that IGFBP-4 proteolysis was significantly increased during the first (56%) and second trimesters (90%), but reached a plateau by the third trimester (94%). In H-mole disease diagnosed 11 weeks after conception, the IGFBP-4 proteolytic activity was 97%, which was nearly the same as at terminal pregnancy. This activity gradually decreased to 75% at 1 week, 58.7% at 2 and 33% at 3 weeks after the operation. The -HCG was also decreased from 490,400 to 123,822.7, 1,352.3, and 128.5 mIU/mL at 1, 2 and 3 weeks after the operation, respectively. The PAPP-A level also gradually decreased from 34.87 to 25.5, 12.0 and 2.7 g/mL 1, 2 and 3 weeks after the operation, respectively. However, the IGF decreased from 238.3 to 172.9 ng/mL 1 week after the operation, but increased to 251.4 and 295 ng/mL at 2 and 3 weeks after the operation, respectively. CONCLUSION: These results demonstrated that the IGFBP-4 protease activity was significantly increased during pregnancy, and was extremely elevated durimg the early stages of H-mole disease, but gradually decreased after removal of molar tissue. Therefore, measuring the IGFBP-4 protease activity may play an important role in the early diagnosis and monitoring of H-mole disease
Early Diagnosis ; Electrophoresis ; Female ; Fertilization ; Fetal Development ; Humans ; Hydatidiform Mole ; Hyperplasia ; Insulin-Like Growth Factor Binding Protein 4 ; Insulin-Like Growth Factor II ; Molar ; Plasma ; Postpartum Period ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Pregnancy-Associated Plasma Protein-A ; Proteolysis ; Trophoblastic Neoplasms ; Trophoblasts

OBJECTIVE: To investigate the incidence, time of onset, and risk factors of deep vein thrombosis asssociated with heterotopic ossification in patients with spinal cord injury. METHOD: The medical records of 201 patients with spinal cord injury were reviewed. Duplex ultrasound and/or venography were used for the diagnosis of deep vein thrombosis and 3 phase bone scan and/or plain radiologic studies were used for the diagnosis of heterotopic ossification. RESULTS: Whereas the incidence of heterotopic ossification and deep vein thrombosis in this population were 10.0% and 4.5%, respectively, 55.5% of the individuals with deep vein thrombosis developed heterotopic ossification. The overall incidence of coexistence of deep vein thrombosis and heterotopic ossification was 2.5%. The significant difference between the occurrence of heterotopic ossification and deep vein thrombosis in this SCI population reached statistical significance (Fisher's exact test p<0.005). CONCLUSION: The results of this study suggest that there exists an association between the occurrence of deep vein thrombosis and heterotopic ossification following SCI.
Diagnosis ; Humans ; Incidence ; Medical Records ; Ossification, Heterotopic* ; Phlebography ; Risk Factors ; Spinal Cord Injuries* ; Spinal Cord* ; Ultrasonography ; Venous Thrombosis*

Suprascapular nerve injury restricted to the infraspinatus muscle is an uncommon condition. We present a 29 year-old man who complained of right shoulder pain and weakness for 8 months. Physical examination revealed atrophy of right infraspinatus muscle and T2 weighted MRI of the right shoulder revealed a mass with homogeneous high intensity at the spinoglenoid notch and atrophy of right infraspinatus muscle. EMG study revealed abnormal spontaneous activities and reduced recruitment pattern of motor units in right infraspinatus muscle. Symptoms improved after the excision of a mass which was a ganglion cyst by pathologic examination. We were reporting a case of suprascapular nerve injury restricted to the infraspinatus muscle.
Adult ; Atrophy ; Ganglion Cysts* ; Humans ; Magnetic Resonance Imaging ; Physical Examination ; Shoulder ; Shoulder Pain

OBJECTIVE: To determine whether there is a difference in nerve conduction studies depend on the body mass index (BMI) of subjects METHOD: Twenty normal healthy volunteers were enrolled for the study. A routine usual sensory and motor nerve conduction study and a sensory nerve conduction study using the near nerve needle technique were performed. BMI was calculated as weight (kg) divided by height (m) squared. In order to evaluate the effect of BMI on the various measure ments of the nerve conduction study, one-way analysis of variance (ANOVA) was used. RESULTS: The sensory nerve amplitudes of median, ulnar and sural nerves correlated significantly (p<0.05) with BMI. However, no correlation was noted between BMI and sensory nerve amplitude by near nerve needle technique. There was no statistical differences noted in the measurements of latency of examined motor and sensory nerves neither the velocity of examined motor nerves. CONCLUSION: In clinical practice, the effect of BMI should be taken into account when the interpretation of abnormal sensory nerve study has to be soli.
Body Mass Index* ; Healthy Volunteers ; Needles ; Neural Conduction* ; Obesity ; Sural Nerve ; Weights and Measures

OBJECTIVE: The purposes were to determine the baseline colon transit time (CTT) and to assess the effect of dietary fiber (psyllium husk) on neurogenic bowel function in chronic spinal cord injured (SCI) persons. METHOD: Eleven chronic spinal cord injured persons with upper motor neuron type neurogenic bowel were participated. Personal interview were carried out for all studied subjects at pre and post treatment period. The baseline colon transit time (CTT) were measured for the right (rCTT), left (lCTT), rectosigmoid (rsCTT) colons as well as for the entire colon using radio-opaque markers. After 4 weeks treatment of psyllium husk, the subjects were reevaluated for their CTTs and the results were compared to the pretreatment values. RESULTS: The mean age of the subjects was 33.9+/-11.0 years and the level of injury ranged from C3 to T10. The mean duration after SCI was 22.6 months (6~47 months). The rCTT, lCTT, rsCTT and tCTT were not affected after the treatment of psyllium husk. Also their bowel care patterns and satisfaction were unaffected by the treatment. CONCLUSION: The results of this study suggest that the use of psyllium husk in chronic spinal cord injured persons do not show the same effect on bowel function as has been previously reported in general population with idiopathic constipation.
Colon ; Constipation ; Dietary Fiber ; Humans ; Motor Neurons ; Neurogenic Bowel* ; Psyllium* ; Spinal Cord Injuries ; Spinal Cord*