• Journal of Genetic Medicine
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• v.10 no.2
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• pp.99-103
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• 2013

Purpose: This study was designed to determine the frequency and echocardiographic findings of 22q11.2 deletions in fetuses with cardiac defects on fetal ultrasound or familial backgrounds of 22q11.2 deletions. Materials and methods: We retrospectively reviewed the medical and ultrasonographic records of 170 fetuses that underwent fluorescence in situ hybridization (FISH) analysis for chromosome 22q11.2 deletions between February 2001 and April 2013. Results: Among 145 fetuses with cardiac defects, six (4.1%) had 22q11.2 deletions. Deletions of 22q11.2 were detected in 6 (5%) of the 120 fetuses with conotruncal defects: 5 (8.9%) of 56 with tetralogy of Fallot (TOF) and 1 (5.9%) of 17 with double outlet right ventricle (DORV). No deletions were found in cases of pulmonary atresia, truncus arteriosus, right aortic arch, or transposition of the great arteries. No 22q11.2 deletions were found in non-conotruncal cardiac malformations. Among 25 fetuses with familial backgrounds of 22q11.2 deletions, one (4%) had a maternally inherited 22q11.2 deletion with no cardiac findings. Conclusion: Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling. It is advisable to perform FISH analysis for 22q11.2 deletions in pregnancies exhibiting conotruncal cardiac defects such as TOF or DORV.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

• Journal of Korea Multimedia Society
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• v.11 no.9
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• pp.1296-1301
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• 2008

Ultrasonography constructs pictures of areas inside the body needs in diagnosis by bouncing high-enorgy sound waves(ultrasound) off internal tissues or organs. In constructing an ultrasonographic image, the weakness of bounding signals induces noises and detailed differences of brightness, so that having a difficulty in detecting and diagnosing with the naked eyes in the analysis of ultrasonogram. Especially, the difficulty is extended when diagnosing muscle areas by using ultrasonographic images in the musculoskeletal test. In this paper, we propose a novel image processing method that computationally extracts a muscle area from an ultrasonographic image to assist in diagnosis. An ultrasonographic image consists of areas corresponding to various tissues and internal organs. The proposed method, based on features of intensity distribution, morphology and size of each area, extracts areas of the fascia, the subcutaneous fat and other internal organs, and then extracts a muscle area enclosed by areas of the fascia. In the extraction of areas of the fascia, a series of image processing methods such as histogram stretching, multiple operation, binarization and area connection by labeling is applied. A muscle area is extracted by using features on relative position and morphology of areas for the fascia and muscle areas. The performance evaluation using real ultrasonographic images and specialists' analysis show that the proposed method is able to extract target areas being approximate to real muscle areas.

• Advances in pediatric surgery
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• v.16 no.2
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• pp.154-161
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• 2010

Pulmonary sequestration (PS) is a rare congenital malformation of the lower respiratory tract. The anomaly is characterized by absence of communication with the tracheobronchial tree and isolated blood supply from an anomalous systemic vessels. With the utilization of antenatal ultrasound, the diagnosis of asymptomatic neonatal PS has increased. Treatment options include observation, arterial embolization and surgical resection. The aim of the present study is to review the clinical course of PS and to share our experience with thoracoscopic resection. A total of 96 patients with PS were treated at Asan Children's Hospital between 1999 and 2010. The diagnosis of PS was established by CT in the cases managed by observation or embolization, and by tissue pathology in the surgical cases. Medical records and radiographic images were retrospectively reviewed. Thirty-nine patients were managed by embolization and 30 patients by surgery. The remaining 27 patients have been under observation without any procedures. Among 27 observation patients, 1 patient regressed completely and 10 patients were lost to follow up. Of the 39 embolizations patients, 2 had their lesion regress and sepsis was suspected after embolization. In 1 patient, the microcoil migrated to the iliac artery during the embolization procedure, and another patient developed renal abscess caused by renal artery embolization. Among 30 surgical cases, resection by thoracotomy was performed in 27 at the Department of Thoracic Surgery, and thoracoscopic resection in 3 at the Division of Pediatric Sugery. Only one wound complication ocurred. We conclud that surgical excision should be recommended for pulmonary sequestration, whether the sequestration is symptomatic or not because of the risk of infection, the low rate of natural regress, poor compliance, severe complications after embolization, and to exclude other pathology. In summary, thoracoscopic resection of the pulmonary sequestration is feasible, efficacious, safe and cosmetically superior even in neonatal period.

• Tuberculosis and Respiratory Diseases
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• v.42 no.4
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• pp.600-604
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• 1995

Lymphangioleiomyomatosis, a rare disease in women of childbearing age, is the result of benign nodular hypertrophy of the smooth muscle of the lypmhatics and other tissues of the abdomen and thorax. We report a 36-years-old woman with pulmonary and retroperitoneal lymphangioleiomyomat.osis who responded with hormone treatment. She developed vaginal pruritis and a pelvic ultraound was done given her significant past medical history. Ultrasound examination demonstrated a large mass in the right side of her pelvis. Therefore she was admitted to St. Michael's Hospital in Toronto for laparoscopy. Result of cytology was to be consistent with the diagnosis of retroperitoneal lymphangioleiomyomatosis. High resolution CT sacn of the thorax demonstrated multiple small cystic lesions, without associated nodularity compatible with a diagnosis of pulmonary lymphangioleiomyomatosis. She has been taking Provera tablets 100mg po tid since Dec. 15, 1993. We have given her a prescription for Depo provera 500mg IM monthly since she came back to Korea. and made arrangements for regular follow up monthly. We performed chest X-ray, CT of chest(high resolution), abdomen and pelvis, pulmonary function tests and arterial blood gas analysis. Chest X-ray and CT findings showed no significant change since July. 20, 1993.

• Journal of radiological science and technology
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• v.39 no.1
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• pp.81-88
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• 2016

The body of the fat tissue increased in obese represented by risk factors such as cardiovascular diseases, diabetes, metabolic disease and dyslipidemia. Such metabolic diseases and the like of the cardiovascular and cerebrovascular disease, hypertension, dyslipidemia, increase in the adipose tissue of the pancreas is known to be a risk factor of these diseases. Study on the diagnosis and treatment of pancreatic cancer was conducted actively, case studies on pancreatic steatosis is not much. In this study, divided into a control group diagnosed with pancreatic steatosis as a result of ultrasonography to evaluation the physical characteristics and serologic tests and blood pressure and arterial stiffness. The control group and the test pancreas steatosis age and waist circumference, body mass index, total cholesterol, HDL cholesterol, LDL cholesterol, and systolic and diastolic blood pressure, fasting blood glucose, arterial elasticity is higher in pancreatic steatosis. And the lower ankle brachial stenosis and HDL-cholesterol were lower than the normal control group, so the pancreatic steatosis harmful to blood vessels.(P <0.05). The difference between the control group and it was confirmed that the pancreatic jibanggun statistically significant. In conclusion, pancreatic steatosis at abdominal ultrasound can predict the risk of metabolic diseases, and there was a correlation with cardiovascular disease.

• Journal of radiological science and technology
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• v.29 no.1
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• pp.1-6
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• 2006

Purpose: Renal stones are common and typically arise within the collecting system. The renal sinus are contains the collection system, the renal vessels, lymphatcs, fat, and fibrous tissue. Because of the compression of all the large echoes in signal processing, the echo from the renal stone generally cannot be distinguished from large echoes emanating from normal structures of the renal sinus. Use of ultrasonography has been difficult for detecting small renal stone without posterior shadowing and chemical composition of stone. The aim of study was measuring for posterior acoustic shadowing to a stone for various scan parameter and it examines a help in renal stone diagnosis. Material & Methods: The stone was place on sponge examined in a water bath with a 3.5MHz or 7.5MHz transducer(LOGIQ 400, USA). First, tested a variety of gain. Second, tested a variety of dynamic range. Third, tested a variety of focal zone. Fourth, measuring of the echo level for low and high frequency for depth. Results: 1) Average echo level was 98 for low total gain(10 dB) and was 142 for high total gain(40 dB). Posterior acoustic shadowing of renal stone was clear for low gain. 2) Average echo level was 129 for low dynamic range(42 dB) and was 101 for high dynamic range(72 dB). Posterior acoustic shadowing of renal stone was clear for high dynamic range. 3) When stone is in focal zone of transducer, definite posterior acoustic shadow is identified. 4) Stone was clear appeared for high frequency(7.5 MHz) than low frequency(3.5 MHz) and it is not distorted. Conclusion: The demonstration of an posterior acoustic shadow of renal stone dependents on several technical factors such as gain, dynamic range, focus, and frequency. This various factors are a help in renal stone diagnosis.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7825-7829
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• 2015

Background: Egypt has the highest prevalence of HCV infection in the world (~14.7%). Around 10-15% of HCV-infected persons will advance to cirrhosis within the first 20 years. The incidence of HCC is expected to grow in the next two decades, largely due to HCV related cirrhosis, and detection of HCC at an early stage is critical for a favorable clinical outcome. No simple reliable non-invasive marker has been available till now. B2M, a non-glycosylated polypeptide composed of 99 amino acids, is one of the components of HLA class I molecules on the surfaces of all nucleated cells. It has been reported that the level of serum B2M is elevated in patients with chronic hepatitis C and HCV-related HCC when compared to HCV-negative patients or healthy donors. Determining the clinical utility of serum B2M as a marker for disease progression in Egyptian patients with HCV related chronic hepatitis, cirrhosis and hepatocellular carcinoma was the aim of the present study. Materials and Methods: In this analytical cross sectional study 92 participants were included in 4 equal groups: Group (1) non cirrhotic chronic HCV; Group (2) HCV related liver cirrhosis; Group (3) HCC on top of HCV,; and Group (4) healthy controls. History taking, clinical examination, routine labs and abdominal ultrasound were conducted for all patients, PCR and Metavir scores for group (1) patients, and triphasic CT abdomen and AFP for Group (3) patients. B2M levels were measured in serum with a fully-automated IMX system. Results: The mean serum B2M level of Group (1) was $4.25{\pm}1.48{\mu}g/ml$., Group (2) was $7.48{\pm}3.04$, Group (3) was $6.62{\pm}2.49$ and Group (4) was $1.62{\pm}0.63$. Serum B2M levels were significantly higher in diseased than control group (p<0.01) being significantly higher in cirrhosis ($7.48{\pm}3.04$) and HCC groups ($6.62{\pm}2.49$) than the HCV group ($4.25{\pm}1.48$) (p<0.01). There was a significant correlation between B2M Level and ALK, total and direct bilirubin and INR (p<0.05), and a significant inverse correlation between B2M level and albumin, total proteins, HB andWBCS values (p<0.05). There was no significant correlation between B2M level and viral load or Metavir score, largest tumour size or AFP (p>0.05). The best B2M cut-off for HCV diagnosis was 2.6 with a sensitivity of 100%, a specificity of 92%, a positive predictive value (PPV) of 97% and a negative predictive value (NPV) of 100%. The best B2M cut-off for HCC diagnosis was 4.55 which yielded sensitivity, specificity, positive predictive value, negative predictive values of 74%, 62%, 39.5, 87.8% respectively (p-value <0.01) while best cut-off for cirrhosis was 4.9, with sensitivity 74 % and specificity 74%.The sensitivity for HCC diagnosis increased upon B2M and AFP combined estimation to 91%, specificity to 79%, NPV to 95% and accuracy to 83%. Conclusions: Serum B2M level is elevated in HCV related chronic liver diseases and may be used as a marker for HCV disease progression towards cirrhosis and carcinoma.

• Advances in pediatric surgery
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• v.8 no.1
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• pp.16-22
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• 2002

Between March 1999 and January 2000, 82 boys with the diagnosis of inguinal hernias (12 bilateral and 70 unilateral hernias), underwent Ultrasound (US) examination of both sides of the groin, a total of 164 inguinal imaging prior to surgery. The patients ages ranged from 3 days to 12 years with a mean of 32.6 months. Ninty four examinations were on the clinically symptomatic side and 70 were on the asymptomatic side. The US criteria for the diagnosis of an inguinal hernia were as follows: 1) visceral hernia, the presence of bowel loops, or omentum in the inguinal canal, 2) communicating hydrocele, the presence of fluid in the processus vaginalis, 3) widening of patent processus vaginalis at the level of internal inguinal ring. The width of patent processus vaginalis at the level of internal inguinal ring over 4 mm is considered an occult hernia. Among the 94 symptomatic groins, US findings showed 31 (33%) visceral hernias, 18 (19%) communicating hydroceles, and 38 (41%) widening of the internal inguinal ring, and 7 (7%) groins without abnormalities. In 70 asymptomatic groins, there were 4 (6%) visceral hernias, 5 (7%) communicating hydroceles, 11 (16%) widening of the internal inguinal ring, and 50 (70%) groins without abnormalities. Among the 70 asymptomatic groins there were US abnormalities in 20 (28%). One hundred and seven groins with positive US findings were surgically explored. Among 107 operated sites, the operative findings were compatible with the US diagnosis in 104, a sensitivity for US of 97.2%. In patients with US findings of widening of internal inguinal ring (>4 mm), there was patent processus vaginalis in 36 out of 38 symptomatic groins and 10 of 11 asymptomatic groins. The sensitivity of US to the operative findings in widening of internal inguinal ring was 93.8%. For visceral hernia and communicating hydrocele, the sensitivity of positive US findings was 100%. Ultrasonography for inguinal hernias appears to be a rapid, reliable, and noninvasive screening diagnostic tool with high positive specificity. Therefore, we recommend the use of US as a routine diagnostic tool in pediatric patients with inguinal hernias and hydroceles.

• Tuberculosis and Respiratory Diseases
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• v.56 no.5
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• pp.505-513
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• 2004

Background : In lung cancer patients, the presence of metastatic neck nodes is a crucial indicator of inoperabilty. So thorough physical examination of neck is always mandatory, but sometimes those are hardly palpable even by the skillful hand. Ultrasonography is a useful diagnostic method in detection of small impalpable lymph nodes and in guidance of fine needle aspiration biopsy. In this study we evaluated the clinical usefulness of ultrasonography(USG) and ultrasound-guided fine needle aspiration cytology(US-FNA) in lung cancer patients without palpable neck nodes. Methods and Materials : From Sep 2002 to Sep 2003, 36 non-small cell lung cancer patients (20 adenocarcinoma, 16 squamous cell cancer) and 10 small cell lung cancer patients without palpable neck nodes on physical examiation were enrolled. patients who had contralateral mediastinal nodal enlargement(>1cm) on chest CT were excluded. After the routine check of USG on the neck, US-FNA was done in cases with enlarged neck nodes (${\geq}5mm$ in the short axis). The presence of enlarged lymph node on USG, and of malignant cells on cytology were evaluated by the histological type and the patients' clinical stage of lung cancer. Results : Among 36 non-small lung cell cancer patients, 14 (38.8%) had enlarged neck nodes on USG, and 5 of 10 small cell lung carcinoma patients. The mean diameter of the neck nodes was 9.8 mm (range, 7-12 mm). US-FNA of 14 non-small cell lung cancer patients revealed tumor cells in eight patients (57.1%). In 5 small cell lung cancer pateints, tumor cells were found in all cases. By the result of US-FNA, the clinical stage of 8 out of 36 (22.2%) non-small cell lung cancer patients had changed, including two cases of shift from the operable IIIa to the inoperable IIIb. In small cell lung cancer patients their clinical stage was not changed after US-FNA, but their pathological diagnosis was easily done in two cases, in whom endobronchial lesions were not found on bronchoscopy. Conclusions : USG and US-FNA of neck node seem to be safe, sensitive and cost-effective diagnostic tools in the evaluation of lung cancer patients without palpable neck nodes.