The Development of Automated Bed-allocation Expert System in Clinical Research Ward

BACKGROUND: Demands for complicated and long-term administration clinical trials have been increased since investigators actively involved in early stage clinical trials including first-in-human (FIH) trials. Research wards in our clinical trial center were mainly used for phase 1 trials. In order to perform several clinical trials simultaneously during a short period with a minimum number of rooms, beds, and equipment, staffs have to spend a lot of time for efficient operation of limited numbers of facilities. In this study, automated bed-allocation system was developed for efficient scheduling of the research ward based on clinical trial condition and status like experts. METHODS: The system was developed based on clinical trial design, schedule, and the information on research bed and availability stored and updated in database (DB). Automatic assignment system was designed to find an optimal schedule according to the given information using expert rules and algorithms. The optimal solution can be visualized on Gantt chart using C# and Chart FX API. RESULTS: The system was developed to demonstrate the schedule on color chart. It turned out to be well-designed to find an optimal schedule for bed allocation. The system also allows automatic updating of the schedule and information in the DB. CONCLUSION: Automated bed-allocation system developed in this study could save time and improve the efficiency for using space and equipment in clinical trial center. The system can be also applied to similar works or tasks in other fields.

A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency / 대한내분비학회지

BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type (SL), simple virilizing type (SV) and non-classic type (NC). METHODS: We have analyzed CYP21 genes in 55 Korean cases (110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. RESULTS: We found the mutations in 94% (103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2 (i2, 35%), CYP21 gene deletion (32%) and I172N (11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2 (42%) or CYP21 gene deletion (41%), while SV patients have I172N (33%) or P30L (21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. CONCLUSION: We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located.

Two Cases with Pseudohypoaldosteronism / 대한소아내분비학회지

Pseudohypoaldosteronism is a disorder in which synthesis of aldosterone is normal but unresponsiveness of the target to the aldosterone activates angiotensin-renin system which in turn elevates levels of renin and aldosterone. This salt-losing syndrome causes life-threatening hyponatremia and hyperkalemia. Despite of the normal renal and adrenal function, due to deficiency of aldosterone function, reabsorption of sodium and excretion of potassium in the kidney is impaired. Sodium loss not only from the kidney but also from sweat gland, salivary gland and colon may occur in some cases. We experienced two cases of pseudohypoaldosteronism in a 3-day-old male and 6-month-old female. The hyponatremia, hyperkalemia, elevation of plasma renin activity and aldosterone concentration were observed without renal and adrenal dysfunction. Brief review and related literatures were also presented.

Central Diabetes Insipidus in Children Related to Craniotomy for a Brain Tumor

PURPOSE: Diabetes insipidus(DI) has been known to be a relatively common complication after craniotomy. We have investigated the incidence and clinical course of DI in children related to craniotomy for a brain tumor and determined the risk factors of postoperative DI. METHODS: Sixty-two pediatric patients, who have undergone craniotomy for a brain tumor(including stereotactic biopsy) from February 1995 through January 1998, were included in this study. We reviewed hospital records retrospectively and analyzed daily fluid intake and output, electrolytes and osmolarity of serum and urine, and urine specific gravity. RESULTS: Of 62 patients, DI developed preoperatively in 7 patients and postoperatively in 7 patients. Preoperative DI composed of 4 germinoma, 2 craniopharyngioma and a histiocytosis, followed by permanent DI after operation. All of the postoperative DI were composed of suprasellar tumors, including 4 craniopharyngioma, which progressed to permanent DI in 5 cases and transient DI in 2 cases. The 5 patients had a triphasic response. The initial phase of DI began within 12 hours postoperatively followed by antidiuretic phase at the 2nd-6th postoperative day, lasted 1-6 days and finally all patients entered permanent DI. Hypopituitarism developed in 10 patients and all of them were accompanied by permanent DI. CONCLUSION: DI is a common complication after neurosurgery for the hypothalamic or pituitary area. The high-risk factors of permanant DI are preoperative DI, combined hypopituitarism or triphasic response. Therefore, it is important to closely monitor this high-risk group, and we should consider endocrinological evaluation in patients who had undergone craniotomy for a brain tumor.

Central Diabetes Insipidus in Children Related to Craniotomy for a Brain Tumor

PURPOSE: Diabetes insipidus(DI) has been known to be a relatively common complication after craniotomy. We have investigated the incidence and clinical course of DI in children related to craniotomy for a brain tumor and determined the risk factors of postoperative DI. METHODS: Sixty-two pediatric patients, who have undergone craniotomy for a brain tumor(including stereotactic biopsy) from February 1995 through January 1998, were included in this study. We reviewed hospital records retrospectively and analyzed daily fluid intake and output, electrolytes and osmolarity of serum and urine, and urine specific gravity. RESULTS: Of 62 patients, DI developed preoperatively in 7 patients and postoperatively in 7 patients. Preoperative DI composed of 4 germinoma, 2 craniopharyngioma and a histiocytosis, followed by permanent DI after operation. All of the postoperative DI were composed of suprasellar tumors, including 4 craniopharyngioma, which progressed to permanent DI in 5 cases and transient DI in 2 cases. The 5 patients had a triphasic response. The initial phase of DI began within 12 hours postoperatively followed by antidiuretic phase at the 2nd-6th postoperative day, lasted 1-6 days and finally all patients entered permanent DI. Hypopituitarism developed in 10 patients and all of them were accompanied by permanent DI. CONCLUSION: DI is a common complication after neurosurgery for the hypothalamic or pituitary area. The high-risk factors of permanant DI are preoperative DI, combined hypopituitarism or triphasic response. Therefore, it is important to closely monitor this high-risk group, and we should consider endocrinological evaluation in patients who had undergone craniotomy for a brain tumor.

Neurenteric Cyst Presented by Asymptomatic Mediastinal Mass

Neurenteric cyst is a rare bronchopulmonary foregut malformation, originating from notochord defect. Characteristics of this anomaly are the intrathoracic cyst associated with vertebral abnormalities, such as hemivertebrae, anterior and posterior spina bifida, absence of vertebrae and diastematomyelia. The most common symptom is respiratory distress and treatment is surgical excision of mass. We report a case of neurenteric cyst in a neonate presented with asymptomatic huge mediastinal cystic mass.

Study of Genetic Imprinting on 3 Cases of Insulin-Dependent Diabetes Mellitus Developed in Early Infantile Period / 대한소아내분비학회지

Infantile onset diabetes mellitus(especially, neonatal diabetes) is rare disorder and may be transient or permanent. Most patients are full-term but small-for-date infants and typical symptoms occur within the first 4-6 weeks of life, requiring insulin therapy. Neonatal diabetes differs from type 1 diabetes in many aspects and seems to form a distinct entity of inborn pancreatic malfunction. The transient cases often develop type 2 diabetes mellitus later in life. In recent reports, transient neonatal diabetes is associated with paternal uniparental isodisomy and unbalanced duplication of chromosome 6q22-23. In our study, clinical course of case 1 was compatible with transient neonatal diabetes, but chromosomal abnormalities such as above was not shown in DNA analysis. In case 2 and 3, we could not decide exactly on genetic basis.