Résumé
PURPOSE: The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. METHODS: We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal screening test between January 1996 and August 2009. We analyzed the level of amino acid from plasma and urine, as well as blood homocysteine. RESULTS: Almost half of the 58 patients were identified as normal. Whereas only 3 (5.1%) patients were identified as having homocystinuria, about 20.7% (12 cases) of the patients had isolated hypermethioninemia. The ages of these two groups at initial detection of hypermethioninemia on plasma amino acid analysis were 50.0+/-22.5 days and 34.9+/-13.5 days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment. CONCLUSION: Hypermethioninemia without homocystinuria, referred to as isolated hypermethioninemia, was also detected. Thus, the impact of hypermethioninemia on a neonatal screening test should be carefully evaluated through analysis of amino acid levels from blood and urine, and we need to detect and treat an early stage of isolated hypermethioninemia as well as homocystinuria.
Sujets)
Humains , Nouveau-né , Régime alimentaire , Diagnostic précoce , Homocystéine , Homocystinurie , Incidence , Méthionine , Dépistage néonatal , Plasma sanguin , Études rétrospectivesRésumé
Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of neurotransmitter precursors L-dopa and 5-hydroxytryptophan. BH4 deficiency is much rarer than classical phenylketonuria. Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is a cause of malignant hyperphenylalaninemia due to BH4 deficiency. When left untreated, DHPR deficiency leads to neurologic deterioration at the age of 4 or 5 months, including psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Treatment of DHPR deficiency should be initiated as early as possible with BH4 supplementation and replacement of the neurotransmitter precursors L-dopa and 5-hydroxytryptophan. We report the first case of DHPR deficiency in Korea, a child diagnosed at 9 years of age by genetic testing.
Sujets)
Enfant , Humains , 5-Hydroxytryptophane , Bioptérines , Déglutition , Dihydropteridine reductase , Dyskinésies , Fièvre , Dépistage génétique , Corée , Lévodopa , Agents neuromédiateurs , Phénylcétonuries , Régénération , Ptyalisme , Phases du sommeilRésumé
PURPOSE: Tamoxifen has been prescribed as a very effective hormonal agent not only for the treatment of breast cancer, but also for the prevention of the disease. The development of resistance to tamoxifen is one of the most important obstacles to hormonal therapy of breast cancer. HER2 or EGFR expression has been reported to be associated with the development of tamoxifen resistance. This study was performed to evaluate the effect of HER2 and EGFR inhibition on tamoxifen resistance using tamoxifen-resistant breast cancer cells (T47D:A18/4-OHT cells). METHODS: Tamoxifen-resistant T47D:A18/4-OHT cells were established by long-term treatment of 1micrometer 4-hydroxytamoxifen on T47D:A18 human breast cancer cells. The effect of HER2 and EGFR inhibition was investigated by the use of a cell proliferation assay with treatment of trastuzumab, a monoclonal antibody to the extracellular domain of the human HER2 receptor, and ZD1839, an ERFR tyrosine kinase inhibitor. RESULTS: In contrast to T47D:A18 cells, T47D:A18/4-OHT cells showed estrogen-independent proliferation and partial regulation by treatment with tamoxifen. With a single treatment of trastuzumab or ZD1839, T47D:A18/4-OHT cell growth was reduced to 77.8% (P=0.15) or 74.4% (P=0.034) respectively, as compared to untreated cells. Combinational treatment with 1 nM estradiol resulted in a further reduction of T47D:A17 cell proliferation by 83.6% (P=0.002) for trastuzumab and 77.7% (P=0.047) for ZD1839, as compared to the single treatments. CONCLUSION: Tamoxifen resistance could be partially regulated by inhibition of HER2 or EGFR in T47D:A18/4-OHT cells, especially in combination with a low dose of estradiol. This effect may provide an important clue to overcome tamoxifen resistance in the treatment of breast cancer.
Sujets)
Humains , Anticorps monoclonaux humanisés , Région mammaire , Tumeurs du sein , Prolifération cellulaire , Oestradiol , Protein-tyrosine kinases , Quinazolines , Tamoxifène , TrastuzumabRésumé
Intracystic papillary carcinoma of the breast is a variant of ductal carcinoma in situ (DCIS) characterized by the presence of papillary carcinoma within a cystically dilated duct. DCIS of the male breast is an uncommon disease, accounting for approximately 7% of all male breast carcinomas. Most DCIS in men is of the papillary type. We experienced one case of intracystic papillary carcinoma in the right breast of a 49-yr-old male and report the case with a review of the literature.
Sujets)
Humains , Mâle , Comptabilité , Région mammaire , Tumeur du sein de l'homme , Carcinome intracanalaire non infiltrant , Carcinome papillaire , Néoplasie endocrinienne multiple de type 1Résumé
Various venous approaches are available for chemoport insertion. The subclavian vein and jugular vein are commonly used. The cephalic vein has several advantages for chemoport insertion. The authors introduce chemoport insertion using cephalic vein. Operation methods were as follows: patient was placed in supine position. Under local anesthesia, the incision was made in the infraclavicular portion, dissection was performed along the deltopectoral groove and the cephalic vein was identified and isolated. Dissection was performed between the subcutaneous fat layer and the muscle layer to make space for chemoport placement. The cephalic vein was incised and the catheter was introduced to the cephalic vein directly and examined by fluoroscopy. Chemoport insertion using cephalic vein is a useful method of chemoport insertion.
Sujets)
Humains , Anesthésie locale , Cathéters , Radioscopie , Veines jugulaires , Muscles , Veine subclavière , Graisse sous-cutanée , Décubitus dorsal , VeinesRésumé
Malignant fibrous histiocytoma is the most common form of soft tissue sarcoma during middle and late adulthood in the deep connective tissues of the extremities, abdominal cavity, and retroperitoneum. Primary breast sarcoma is a rare disease entity, comprising less than 1% of all breast malignancies. Malignant fibrous histiocytoma of the breast is very rare. We presented one case of a malignant fibrous histiocytoma of the right breast in a 49-year-old woman and report the case with a review of the literature.
Sujets)
Femelle , Humains , Adulte d'âge moyen , Cavité abdominale , Région mammaire , Tissu conjonctif , Membres , Histiocytome fibreux bénin , Histiocytome fibreux malin , Maladies rares , SarcomesRésumé
Diverticulosis of the vermiform appendix is an uncommon entity with incidence of 0.2~2.0% in surgical pathologic specimens. Inflammation, perforation, and hemorrhage will be complications of appendiceal diverticulum. Without these complications, appendiceal diverticulum is asymptomatic. Authors experienced intussusception combined with appendiceal diverticulum.
Sujets)
Adulte , Humains , Appendice vermiforme , Diverticule , Hémorragie , Incidence , Inflammation , IntussusceptionRésumé
Performing laparoscopic surgery for colorectal cancer and early gastric caner has recently been rapidally increasing. We report here on our experiences of 3 cases of laparoscopic combined resection for synchronous colorectal cancer with early gastric cancer. Case 1) An 87-year-old male had synchronous right colon cancer along with early gastric cancer, and he underwent laparoscopic right colectomy with laparoscopic assisted distal gastrectomy. Case 2) A 49-year-old male had synchronous rectal cancer with early gastric cancer, and he underwent laparoscopic abdominoperineal resection and totally laparoscopic distal gastrectomy with delta anastomosis. Case 3) A 76-year-old female had synchronous sigmoid colon cancer with early gastric cancer, and she underwent laparoscopic low anterior resection with laparoscopic assisted distal gastrectomy. The laparoscopic approach for synchronous cancer can be a treatment option for selected cases.
Sujets)
Sujet âgé , Sujet âgé de 80 ans ou plus , Femelle , Humains , Mâle , Adulte d'âge moyen , Colectomie , Tumeurs du côlon , Tumeurs colorectales , Gastrectomie , Laparoscopie , Tumeurs du rectum , Tumeurs du sigmoïde , Tumeurs de l'estomacRésumé
PURPOSE: To investigate the methylation status of cancerassociated genes in breast cancer to assess its use in the diagnosis of breast cancer and the relationship with distinctive clinical and pathological features. METHODS: A total of 29 benign tumors and their adjacent normal tissues as well as 67 malignant tumors and adjacent normal samples, from women undergoing surgery for primary invasive breast carcinoma at Uijongbu St. Mary's Hospital, between March 2003 and March 2005, were used. Eleven candidate genes were chosen; P14, P16, DAPK, MGMT, h-MLH, E-cadherin, RASSF1 , Twist, RAR , HIN-1, and Cyclin D. DNA was extracted from fresh tissues, and methylation specific PCR performed. RESULT: The number of methylated genes was increased in the malignant tissues compared to the benign tumors and adjacent normal tissues. 7 genes; P14, P16, MGMT, RASSF1, Twist, RAR beta and Cyclin D, were more frequently methylated in malignant than benign tumors, with the differences in the p14, p16, and RAR beta genes were statistically significant (p<0.05). In benign tumors, the p16 and HIN-1 genes were the most infrequently (6.9%) and frequently methylated (82.8 %), respectively. In malignant tumors, the h-MLH and RASSF1 genes were most infrequently and frequently methylated genes, respectively. The ubgroup showing methylation of the DAPK gene had a higher nuclear grade and greater progesterone receptor negativity. The group in which the RASSF1 gene was methylated, had greater estrogen receptor (ER) and progesterone receptor (PgR) positivities. The Twist gene was frequently methylated in the subgroup showing higher nuclear and histologic grades. The group with HIN- 1 and cyclin D methylation had a tendency to show greater ER positivity. CONCLUSION: The subgroups showing methylated DAPK and Twist should be more intensely treated and followed up more carefully than those with RASSF1 , HIN-1 and Cyclin D methylation. Gene methylation may be linked to various pathological features of breast cancer; however, this will require confirmation from larger studies.
Sujets)
Femelle , Humains , Tumeurs du sein , Région mammaire , Cadhérines , Cycline D , Diagnostic , ADN , Oestrogènes , Gènes suppresseurs de tumeur , Méthylation , Réaction de polymérisation en chaîne , Récepteurs à la progestéroneRésumé
PURPOSE: The aromatase inhibitors cause bone loss by estrogen depletion. Zoledronic acid (ZA) can prevent bone mineral density (BMD) loss associated with the use of aromatase inhibitors. Accordingly interest has arisen in measuring surrogate markers of bone resorption to monitor the response of treatment of BMD loss in place of a radiologic assessment. This study was designed to determine whether ZA would prevent bone loss that is known to occur with letrozole and identified surrogate markers of bone resorption in an animal model. METHODS: In ovariectomized or sham-operated rat, we administrated ZA and letrozole to 5 different groups including: a sham operation control group (OC), a group in which an ovariectomy was performed followed by saline administration (OS), an ovariectomy with ZA treatment group (OZ), an ovariectomy with letrozole treatment group (OL) and an ovariectomy with ZA and letrozole combined treatment group (OZL). The levels of serum osteocalcin, serum bone alkaline phosphatase (BALP), serum calcium and urine N-telopeptide (NTX) and BMD were estimated and compared at the same periods for each group. The distinct microscopic findings of proximal tibia at week sixteen were also compared. RESULTS: Significantly reduced levels of urine NTX and significantly increased BMD were measured in the OZ group. In the OL group no difference was seen in in BMD in comparison to the OS group. However, a significant increase in BMD was measured in the OZL group. Urine NTX levels were measured and found to be lower in the OL group and significantly lower in the OZL group. Serum osteocalcin levels were similar to each other for each group. Levels of serum calcium and BALP were significantly lower in the OZL group than in the OS group. CONCLUSION: The combination treatment with ZA and letrozole is effective in the inhibition of bone resorption and in the preservation of BMD. Measurement of serum osteocalcin, urine NTX, and BMD, levels are recommended as surrogate markers for determining the response for the treatment of bone loss.
Sujets)
Animaux , Femelle , Rats , Phosphatase alcaline , Inhibiteurs de l'aromatase , Marqueurs biologiques , Densité osseuse , Résorption osseuse , Tumeurs du sein , Calcium , Oestrogènes , Modèles animaux , Ostéocalcine , Ovariectomie , TibiaRésumé
Meckel's diverticulum is the most common congenital anomaly that results from an incomplete obliteration of omphalomesenteric duct. But only 10% of Meckel's diverticulums are symptomatic. The most common presentation in children is painless rectal bleeding, while intestinal obstruction is more common in adults. Obstruction with a Meckel's diverticulum is usually attributed to intussusception, volvulus, inflammatory adhesion, or an internal hernia. Author's experienced multi-directionally rotated Meckel's diverticulum causes intestinal obstruction with gangrenous change in a child and removed successfully with laparoscopic assistance. To our knowledge, this appears to be a first case report of a torsion of Meckel's diverticulum associated with intestinal obstruction in Korea, which was treated by laparoscopic procedure.
Sujets)
Adulte , Enfant , Humains , Hémorragie , Hernie , Occlusion intestinale , Volvulus intestinal , Intussusception , Corée , Laparoscopie , Diverticule de Meckel , Canal vitellinRésumé
Cystic lymphangioma of the spleen is extremely rare disease and the treatment is always surgical. In the present report we describe a symptomatic splenic cystic lymphangioma in a 44 year-old female. Clinical examination revealed palpable mass in the left upper quadrant of the abdomen. Abdominal CT scan revealed enlarged spleen with multiple, variable sized cysts. A few cysts had peripheral calcification. Open splenectomy was performed and histologic examination permitted the accurate diagnosis to be made. In case of multiple cystic enlargement of spleen, consider the possibility of cystic lymphangioma of the spleen and splenectomy.
Sujets)
Adulte , Femelle , Humains , Abdomen , Diagnostic , Lymphangiome kystique , Maladies rares , Rate , Splénectomie , Splénomégalie , TomodensitométrieRésumé
PURPOSE: Splenic flexure mobilization in an anterior resection is a subject of controversy, but a tension-free anastomosis is needed in case of a low anterior resection or a coloanal anastomosis. Classical splenic flexure mobilization by means of the lesser sac opening is technically difficult in the laparoscopic era. METHODS: This study retrospectively analyzed the medical records and operation videos of 16 patients who underwent laparoscopic splenic flexure mobilization in Our Lady of Mercy Hospital, The Catholic University of Korea by using a medial approach. The operation procedure is as follows: Under general anesthesia, the patient was placed in the Trendelenburg position, after making pneumoperitoneum, the inferior mesenteric artery (IMA) and the inferior mesenteric vein (IMV) were ligated and divided. A medial-to-lateral mesocolon dissection was done, and the pancreas was dissected from the mesocolon of the transverse colon; then, the greater omentum was dissected. RESULTS: The mean age was 60 years old, and the male- to-female sex ratio was 9:7. The mean operation time was 293 minutes. The mean distal margin was 5.3 cm, and the mean number of harvested lymph nodes was 15. An anterior resection was done in 2 cases, a low anterior resection is 10 cases, and a coloanal anastomosis in 4 cases. The mean time from ligation of the IMA to splenic flexure mobilization was 45 minutes. There was no mortality or morbidity. CONCLUSIONS: Laparoscopic medial splenic flexure mobilization is a technically feasible and safe method.
Sujets)
Humains , Adulte d'âge moyen , Anesthésie générale , Côlon transverse , Position déclive , Corée , Laparoscopie , Ligature , Noeuds lymphatiques , Dossiers médicaux , Artère mésentérique inférieure , Veines mésentériques , Mésocôlon , Mortalité , Omentum , Pancréas , Cavité péritonéale , Pneumopéritoine , Études rétrospectives , Sexe-ratioRésumé
Accessory spleen is presence of ectopic splenic sue, which has been found in 10~30% in autopsies series. Commonly accessory spleen have no clinical symptoms so diagnosis is difficult to make. But torsion of an wandering accessory spleen which is very unusual entity can appeared as acute abdominal pain and painful mass on abdomen. We reported case of a 27-years-old-woman with torsion of an wandering accessory spleen presenting as acute abdominal pain and painful mass on abdomen. Abdomino-pelvic CT shows large hypodense mass with peripheral enhancement with inflammatory change in LLQ area. Patient underwent laparoscopic exploration under impression of torsion of mesenteric cyst. During the laparoscopic exploration, we found out the torsion of accessory spleen and it was removed successfully by laparoscopic approach. The diagnosis of torsion of wandering accessory spleen could be considered in acute abdomen with intraabdominal mass with hypodense, peripheral enhancement on CT. Despite of size of mass, laparoscopic approach is one of the treatment method in that case.
Sujets)
Humains , Abdomen , Abdomen aigu , Douleur abdominale , Autopsie , Diagnostic , Laparoscopie , Kyste du mésentère , RateRésumé
Adenomyoepithelioma occurs often in the salivary gland. But adenomyoepithelioma of the breast is very rare, and diagnostic tools are not found. The biological characters of disease are not fully understood. These days, a few case was reported in Korea with development of pathologic diagnostic tools. At first, we diagnosed this case as breast cancer and did MRM operation. But this case was diagnosed as adenomyoepithelioma at the special immunohistochemistry stain. Most of the adenomyoepithelioma is benign disease, but this case was malignant change. We experienced one case of malignant adenomyoepithelioma of the breast and report the case with review of literatures.
Sujets)
Adénomyoépithéliome , Tumeurs du sein , Région mammaire , Immunohistochimie , Corée , Glandes salivairesRésumé
The most common causes of an intramural hematoma of the bowel are blunt trauma and complications from an anticoagulant drug. The duodenum is the most common site of an intramural hematoma caused by blunt trauma. An intramural hematoma caused by the use of an anticoagulant drug commonly involves the small bowel and can be conservatively treated with good prognosis. However, an intramural hematoma caused by trauma or injury in a patient who is taking an anticogulant drug has rarely been reported. We report the case of 75-year-old woman with an intramural hematoma who took cumadin after acupuncture and who presented with acute abdominal pain, especially on the RLQ area. Abdominal CT showed a cecal wall enlargment and enhancement. We performed an emergency operation under the impression of peritonitis. During the opertion, we found the cecal intramural hematoma, so a right hemicolectomy was done. An Intramural hematoma after a focal injury, such as acupuncture, in a patient who is taking an anticoagulant drug can take place in Korea. We think that proper treatment should be studied. Also education patients taking an anticoagulant drug should be addressed.
Sujets)
Sujet âgé , Femelle , Humains , Douleur abdominale , Acupuncture , Duodénum , Éducation , Urgences , Hématome , Corée , Péritonite , Pronostic , TomodensitométrieRésumé
Systemic amyloidosis after gastric cancer surgery is a very rare phenomenon. Less than ten such cases have been reported in the international literature. Although systemic amyloidosis has been reported to be associated with lymphoma, multiple myeloma, and renal cell carcinoma, its association with gastric cancer remains unclear. We report a case of a 64-year-old male who developed systemic amyloidosis 24 months after a Billroth-I gastrectomy for gastric cancer, and provide a brief review of the literature.
Sujets)
Humains , Mâle , Adulte d'âge moyen , Amyloïdose , Néphrocarcinome , Gastrectomie , Lymphomes , Myélome multiple , Tumeurs de l'estomacRésumé
Tamoxifen, the representative of selective estrogen receptor modulaor (SERM), has been widely used not only for the treatment of breast cancer, but also for the prevention of the disease. It is well known that some serious side-effects can infrequently occur with long-term use of tamoxifen and endometrial cancer is one of that disasters. According to NSABP B-14 data, the incidence of endometrial cancer among tamoxifen users was 0.16% and the relative risk was increased by 7.2 fold. In Korea, tamoxifen has been also used as primary endocrine therapy for the treatment of many patients with breast cancer. However, there was no formal report about the endometrial carcinoma occurred subsequently after tamoxifen administration so far. Recently, we experienced two cases of endometrial carcinoma occurred after tamoxifen treatment in breast cancer patients in Korea, and report these cases for reminding breast physicians or patients not to ignore this rare, but serious side effect of tamoxifen.
Sujets)
Femelle , Humains , Tumeurs du sein , Région mammaire , Catastrophes , Tumeurs de l'endomètre , Oestrogènes , Incidence , Corée , TamoxifèneRésumé
Breast cystic hypersecretory duct carcinomas (CHDC), characterized by cystic dilatation of ducts, cysts filled with thyroid colloid-like eosinophilic material, and by micropapillary carcinomas in the epithelium lining the cyst, is a rare histological variant of intraductal carcinomas. CHDC is differentiated from cystic hypersecretory hyperplasia. It's clinical manifestations are similar to those of other intraductal carcinomas. CHDC has a low-grade behavior for many years, but can be invasive, with the potential for metastasis. The importance of CHDC is its differentiation from a variety of other lesions of the breast, both benign and malignant. Various differential diagnoses for CHDC include: fibrocystic changes of the breast with microcyst formation, juvenile papillomatosis, benign mucocele-like lesions, juvenile secretory carcinomas, mucin-producing colloid carcinomas and metastatic follicular thyroid carcinomas. Histochemical staining (PAS, alcian blue and mucicarmine) or immunoperoxidase studies (CEA, alpha-lactalbumin and thyroglobulin) may also helpful in differential diagnoses. We report a case of a cystic hypersecretory duct carcinoma (CHDC) of the breast, and present a review of the literature.
Sujets)
Adénocarcinome folliculaire , Adénocarcinome mucineux , Bleu Alcian , Kyste du sein , Tumeurs du sein , Région mammaire , Carcinome intracanalaire non infiltrant , Diagnostic différentiel , Dilatation , Granulocytes éosinophiles , Épithélium , Hyperplasie , Lactalbumine , Métastase tumorale , Papillome , Glande thyroideRésumé
PURPOSE: The detection of occult micrometastasis in breast cancer patients may allow the establishment of prognosis and development of new therapeutic approaches. This study was performed in order to improve on existing methods of detection by evaluating the potential of specific mRNA markers in reverse-transcriptase polymerase chain reaction (RT-PCR) of peripheral blood and bone marrow taken from patients with breast cancer. METHODS: Peripheral blood and bone marrow samples were obtained from thirty-four breast cancer patients who undergone surgery in the Department of Surgery, Uijongbu St. Mary's Hospital between January 2000 and May 2001. In RT-PCR, we tried multiple primers on breast cancer cell lines and patient samples. Using MUC-1 and CK19 mRNA primers, we detected micrometastasis in breast cancer patients. Subsequently, we analysed the correlation with RT- PCR results and other prognostic factors. RESULTS: MUC-1 and CK19 were detected in all breast cancer cell lines. However, CEA was not detected in some cell lines. CK19 showed greater sensitivity than MUC-1 in RT-PCR. Using MUC-1 as primers, the detection rate was 47.1% and 35.3% in bone marrow and peripheral blood, respectively. Seven patients (20.5%) were positive in both sources. In the case of CK19, the detection rate was 50% and 41.2% in bone marrow and peripheral blood, respectively. Twelve patients (35.2%), were noted as being positive for both primers. The concordance rate of both primers mers was 38.2% and 23.5% in bone marrow and peripheral blood, respectively. CK19 positivity in the peripheral blood was correlated with bone marrow positivity and MUC-1 positivity in both sources and inversely correlated with ER. CK19 positivity of bone marrow was correlated with MUC-1 positivity of bone marrow. CONCLUSION: CK19 and MUC-1 may be good candidates for use in RT-PCR for the detection of micrometastasis of breast cancer. CK19 showed greater sensitivity. However, using both primers in RT-PCR, we may detect micrometastasis more sensitively and specifically and more wisely choose a treatment modality.