The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.
A cross-sectional study was conducted to evaluate the relationship between sick building syndrome(SBS) and the environmental factors affecting SBS on 130 underground workers and 60 controls. The study consisted of 1) a review of environmental condition 2) measurement of temperature, $O_2$, $CO_2$, CO, and formaldehyde and 3) a questionnaire survey of symptom prevalence and perception of environmental conditions using indoor Air Quality questionnaire recommended by National Institute for Occupational Safety and Health. Bronchitis and dust allergy were more prevalent in underground workers significantly(p < 0.05). Among the 18 symptoms related to the indoor air pollution, the experience rate of dry, itching or irritated eyes, sore or dry throat, chest tightness, tired or strained eyes and dry or itchy skin symptom was significantly different between the underground workers and controls. The diagnostic criteria of SBS was defined as at least 1 symptom is experienced 1-3 times a week during the last 1 month among 18 indoor air pollution related symptoms which can be relieved by moving out of the underground. Applying the criteria, the mean symptom score was significant higher in underground workers than controls significantly (p < 0.05). These resalts indicated that underground workers are under inappropriate ergonomic and physical condition and inadequate ventilation. Their experience rate of symptoms related to indoor air pollution and prevalence of SBS was significantly higher than controls. To reduce the prevalence of SBS of underground workers, the surveillance system of indoor air quality, restriction of using fuel in underground and legislative regulations for the environment are needed to establish a better indoor air quality. Early detection, treatment and prevention of SBS through medical attention is also needed.
These studies were carried out to investigate of detection of Fasciola egg from positive cattle faces in the intradermal reaction method by laborsaving composition of sieves and Kim's sedimental tube method. The results obtained are summerized as follows: 1. Detection method of Fasciola eggs was improved by 3 meshes(100mesh, 150mesh, 250mesh) for filtration of fecal fluid contained Fasciola eggs. 2. III type of tube in the 3 kinds of sedimental tube had the highest recovery rate of Fasciola egg. Thus, this type of tube was selected and called as Kim's sedimental tube. 3. A-II, A-III, B-III and C-III type by Kim's sedimental tube method had the recovery rates of eggs in the 1st dropping as ranged 99 to 100% and A-I, B-II, C-I and C-II as 71 to 91%. 4. All types as themselves contained the special aspects. In the these type was useful to determine the results in the urgent cases add to shorten the time of the diagnostic procedures. 5. Kim's sedimental tube method high recovery rate and convenient procedures as compared with other detection methods reported. In addition, through this method can also obatained E. P. C. value. Therefore, it is desirable that Kim's sedimental tube method be recommended by clinicians.
Kim, Min-Sun;Lee, Seung-Hyun;Kim, Jeong-Hwa;Chang, Young-Bum;Lee, Dae-Yeol
Childhood Kidney Diseases
/
v.11
no.1
/
pp.65-73
/
2007
Purpose : Voiding cystourethrography(VCUG) is a commonly performed diagnostic procedure in children with urinary tract infections. Recently, with the widespread use of prenatal ultrasonography, VCUG is performed as part of the postnatal radiological evaluation of asymptomatic infants with prenatally detected hydronephrosis. The procedure is relatively simple but it involves discomfort and some complications. We studied post procedural symptoms and complications in children who underwent VCUG. Methods : This study reviewed 259 patients who underwent VCUG in our hospital between October 2005 and September 2006. We did a chart review and a telephone interview with the patients' parents about symptoms and complications associated with VCUG. Results : Among 269 children, 217 patients(80.7%) were under 2 years of age and 5 patients (1.9%) were over 8 years of age. Their mean age was $13.1{\pm}22.9$ months. After VCUG, dysuria was found in 49 patients presented with dysuria, and irritability in 36 patients with irritability. Other complications were hematuria, fever, frequency, bladder rupture and urinary tract infection. Mean symptoms duration was $1.4{\pm}0.7$ days. There was no significant relationship between prophylactic antibiotics use and complication rate associated with VCUG. Conclusion : Our study demonstrated that 32.7% of patients showed complications including bladder rupture and urinary tract infection after VCUG. We also found that prophylactic antibiotics use did not prevent urinary tract infection nor decrease the rate of complications associated with VCUG. Therefore, we suggest that the procedure must be done carefully and aseptically, and we should closely observe the children who undergo VCUG for development of possible complications.
Pericardial effusions result from various conditions such as inflammation, malignancies, open heart surgery and uremia. Recently, video assisted thoracic surgery (VATS) has been used for diagnostic and therapeutic purposes in the management of pericardial effusion and intrathoracic lesions due to its ability to provide outstanding visibility of intrathoracic structures with less pain, superior cosmetic effects, and shorter hospital stay Material and Method: From April 1995 to October 2001, 51 patients received pericardial window operation via either thoracoscopic(Group A, n=37, m:f=18:19, mean age=56.4 yrs)or thoracotomy approach(Group B, n=14, m:f=8:6, mean age=58.4 yrs). Result: In group A, the operation time, duration of chest tube insertion, recurrence rate of pericardial effusion, and postoperative hospital stay were 61.2 minutes, 9.3 days, 2.7%, 16.2 days, respectively while in group B these values were 58.4 minutes, 12.2 days, 7.1, and 17.3 days. The number of injections for pain control in group A were 4.2 times, whereas in group B it was 6.3 times. Although there was a tendency for the mean hospital stay and duration of chest tube insertion to be shorter in group A than in group B, these differences did not reach statistical significance. There was also no significant difference in the operation time and recurrence rate between the two groups. Conclusion: The safety and effectiveness of VATS in the management of pericardial effusion is comparable to the open thoracotomy method. It allows for a shorter hospital stay, duration of chest tube insertion, lesser postoperative pain and a smaller skin incision.
Journal of agricultural medicine and community health
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v.28
no.2
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pp.1-14
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2003
Objectives: This paper introduces need and supply level of rural mental health care service and especially focuses on the evaluation for the community mental health programs of Public Health Centers(PHCs) in rural areas as the facilities for primary mental health care. Methods: We defined the need as prevalance rate and service utilization rate, for which reviewed the results of the epidemiological study of mental disorders using Korean Composite International Diagnostic Interview surveyed on a nationwide scale in 2001. Supply was appraised in terms of psychiatric beds and primary mental heath care facilities such as private psychiatric clinics, facilities for social rehabilitation, PHCs running community mental health programs. For this, we reveiwed a variety of annual reports related mental health published by Ministry of Health and Welfare. To evaluate the community mental health programs of PHCs in rural areas, we selected. randomly samples out of the 3rd community health plans including the contents of community mental health programs, which submitted by 89 rural counties and 44 cities mixed with rural areas, and used the program's guideline established by central government as a standard. Results: Prevalence rates of major psychiatric diseases such as schizophrenia, alcoholism, major depression, anxiety disorder were higher in rural area than in urban area and 8.9% of psychiatric patients in both areas stayed at homes contacted with mental health manpower more than one time during the last year. Psychiatric beds were sufficiently supplied, but urban area had less beds than rural area contrary to general health care service. Psychiatric clinics were supplied very insufficiently in rural areas and PHCs bridged the gap instead. However rural PHCs got less financial support for community mental health programs from higher positioned agencies than urban PHCs. Rural community health programs not supported hardly worked out. Conclusions: Central government should consider a special policy for rural primary mental health care, because private psychiatric clinics can't be introduced in rural areas due to demand-deficiency and the financial independence of rural counties was very vulnerable.
Kim, Khi-Joo;Kim, Joung-A;Shin, Jae-Il;Hwang, You-Sik;Cheung, Il-Chun;Lim, Jong-Baeck;Lee, Jae-Seung
Childhood Kidney Diseases
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v.11
no.2
/
pp.161-167
/
2007
Purpose : GFR(glomerular filtration rate) is a fundamental parameter in detecting renal impairment and predicts the progression of renal disease. Because serum creatinine has several disadvantages, serum cystatin C has been recently proposed as a new endogenous marker for GFR. We compared serum cystatin C with creatinine and creatinine clearance to investigate the clinical usefulness of cystatin C. Methods : We retrospectively analyzed 46 patients(60 case numbers) who had various renal diseases and classified them into 3 groups according to creatinine clearance(Group 1 : CrCl <40 mL/min/$1.73m^2$, Group 2 : CrCl 40-60 mL/min/$1.73m^2$, Group 3 CrCl >60 mL/min/$1.73m^2$). We measured serum creatinine, cystatin C and creatinine clearance and also analyzed the correlations among them. Results : Serum cystatin C and creatinine showed a similar correlation to creatinine clearance (r=0.685, r=0.640, respectively) and showed similar diagnostic accuracy in detecting decreased GFR(AUC, cystatin C 0.829 vs. creatinine 0.826, P=0.848). Serum cystatin C showed a greater sensitivity for detecting a decreased GFR than creatinine in Group 2 and 3(Group 1 : 100% vs. 100%, Group 2 : 70% vs. 35%, Group 3 : 46% vs. 15%). Conclusions : Serum cystatin C could be a useful endogenous marker for GFR and would be superior to serum creatinine in early detection of renal impairment in pediatric patients with renal diseases.
As a part of epidemiologic investigation of tsutsugamushi disease, the wild rodents which were captured in Gyeongnam area were diagnosed with indirect immunofluorescent antibody assay (IFA) and Polymerase Chain Reaction (PCR) to find if they have an antibody against Orientia tsutsugamushi. The conclusion was drawn as followings. (1) The captured 58 wild rodents showed that the subspecies distribution of Apodemus agrarius was 86.2%, Microtus fortis was 8.6% and Crocidura lasiura was 5.2%. (2) The antibody positive rate of O. tsutsugamushi Gilliam, Karp, Karto and Boryong by IFA method was 32.0% in Apodemus agrarius among 50 wild rodents and 40.0% in Microtus fortis among 5 wild rodents, respectively. It was negative in the case of all the 3 Crocidura lasiura. (3) The antibody titers on Apodemus agrarius, Microtus fortis and Crocidura lasiura against Gilliam, Karp, Karto and Boryong were measured between 1:20 and 1:640. The antibody titer against each antigen was in the order Boryong>Gilliam>Karp. (4) O. tsutsugamushi was detected from the blood, spleen and kidney from the artificially infected mice by IFA and PCR. IFA showed the positive response between 3 and 18 days after inoculation. On the other hand, positive response was found from all the samples by PCR. (5) From PCR of the genomic DNA extracted from the blood, spleen and kidney samples of the captured wild rodents, Boryong-specific amplification product with size of 210 bp, which is particular in Boryong, was detected from spleen and kidney samples, but not detected in the blood. (6) Boryong-specific amplification product was detected from spleen and kidney samples which were obtained at 3, 6, 12, 18 and 24 days after the infection with Boryong. But, it wasn't detected from the uninfected samples. (7) From PCR of spleen and kidney samples of the captured wild rodents, it was found that positive rate of O. tsutsugamushi in Apodemus agrarius and Microtus fortis were 25.0% (4/16) and 20.0% (1/5), respectively. From the above results, it can be concluded that Apodemus agrarius resided in Gyeongnam area carried O. tsutsugamushi and PCR method might be a simple, precise, rapid and useful diagnostic tool than IFA for the diagnosis of O. tsutsugamushi.
Suh Chang Ok;Chung Eun Ji;Lee Hy De;Lee Kyong Sik;Oh Ki Keun;Kim Gwi Eon
Radiation Oncology Journal
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v.15
no.4
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pp.331-337
/
1997
Purpose : To evaluate our experience in the breast-conserving treatment for early breast cancer with special regard to recurrence Pattern and related risk factors. Materials and Method :Two hundred and sixteen patients with AJC stage 1and 11 breast cancer who received breast conserving treatment between January 1991 and December 1994 were evaluated A9e distribution ranged from 23-80 year old with a median a9e of 44. One hundred and seventeen Patients had 71 lesions and 99 Patients had 72 lesions. Axillary lymph nodes were involved in 73 patients. All patients received a breast conserving surgery (wide excision to quadrantectomy) and axillary node dissection followed by radiotherapy. Ninety six patients received chemotherapy before or after radiotherapy. Results : During the follow-up period (3-60 months, median 30 months), local recurrences were noted in six Patients (true: 3, elsewhere; 1, skin: 2). Sixteen patients developed distant metastases as the first sign of recurrence at 8-38 months (median 20 months) after surgery. Among them, three patients simultaneously developed local recurrence with distant metastases. Contralateral breast cancer developed in one Patient and non-mammary cancers developed in three patients. The actuarial 5 year survival rate was $88.4\%\;(stage\;I\;96.7\%,\;stage\;IIa\;95.2\%,\;stage\;IIb\;69.9\%)$. Age, I stage, number of involved axillary lymph nodes. and AJC stage were risk factors for distant metastases in univariate analysis. In the multivariate analysis, the number of involved axillary lymph nodes was the most significant risk factor for metastases. Conclusion : Local recurrence was not common in the early years after radiotherapy. Distant metastases occurred at a steady rate during the first three years and was more common in the Patients with larger tumors, higher number of involved axillary nodes, and younger age.
Background: With the development of the molecular biological methods, studies of the early diagnosis of lung cancer and the detection in the preneoplastic state by using genetic probes in the high risk groups are widely investigated. In lung cancer, squamous cell carcinoma is considered to progress from the normal bronchial mucosa to the preneoplastic state, and finally to the invasive carcinoma. In this study, we investigated the expression of p53 and c-erbB2 in the normal bronchi and the cancer tissues in patients with squamous cell lung cancer to evaluate the possibility of using these immunohistochemical markers as the diagnostic and prognostic parameters of patients with squamous cell lung cancer. Method: The normal and cancerous bronchial tissues of 25 patients with squamous cell carcinoma of the lung, surgically resected from May 1995 to November 1996, were immunohistochemically stained with the monoclonal antibodies to p53(DAKO-p53) and c-erbB2(phamingen 15821A) respectively. We compared the expression status of these markers between the normal bronchial mucosa and the tumor tissue, and also investigated the relationship between the expression status of these markers in tumor tissues and the pathological stage, and the survival time. Results: The pathological stage was as follows; stage I, II were found in 5 patients respectively, stage IIIA was in 8 patients, stage IIIB was in 4 patients, and stage IV was in 3 patients. The expression rate of p53 in the squamous cell lung cancer was 48%, and it was not expressed in the normal bronchial mucosa. The expression status was increased as the pathological stage advanced(p=0.0091 by test of trend). But there were no relationship between the expression of p53 and the median survival time. C-erbB2 did not yield a significantly meaningful result. Conclusion: p53 was not found in the normal bronchial mucosa, but it was expressed in 48% of the tumor tissue. And the expression rate increased as the pathological stage advanced. So it would be helpful to apply the immunochistochemical stain with p53 in the bronchial biopsy specimen in the early diagnosis trial or staging of squamous cell lung cancer.
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