No abstract available.
Fistula*

Background: and Purpose Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors influencing migraines and their potential association with the family medical history. Methods: We performed a comprehensive genome-wide association study of a cohort of 1,561 outpatients with migraine and 473 individuals without migraine in Taiwan, including Han Chinese individuals with or without a family history of migraine. By analyzing the detailed headache history of the patients and their relatives we aimed to isolate potential genetic markers associated with migraine while considering factors such as sex, episodic vs. chronic migraine, and the presence of aura. Results: We revealed novel genetic risk loci, including rs2287637 in DEAD-Box helicase 1 and long intergenic non-protein coding RNA 1804 and rs12055943 in engulfment and cell motility 1, that were correlated with the family history of migraine. We also found a genetic location downstream of mesoderm posterior BHLH transcription factor 2 associated with episodic migraine, whereas loci within the ubiquitin-specific peptidase 26 exonic region, dual specificity phosphatase 9 and pregnancy-upregulated non-ubiquitous CaM kinase intergenic regions, and poly (ADP-ribose) polymerase 1 and STUM were linked to chronic migraine. We additionally identified genetic regionsassociated with the presence or absence of aura. A locus between LINC02561 and urocortin 3 was predominantly observed in female patients. Moreover, three different single-nucleotide polymorphisms were associated with the family history of migraine in the control group. Conclusions This study has identified new genetic locations associated with migraine and its family history in a Han Chinese population, reinforcing the genetic background of migraine. The findings point to potential candidate genes that should be investigated further.

Mutations in genes encoding ion channels, transporters, exchangers, and pumps in human tissues have been increasingly reported to cause hypokalemia. Assessment of history and blood pressure as well as the K+ excretion rate and blood acid-base status can help differentiate between acquired and inherited causes of hypokalemia. Familial periodic paralysis, Andersen's syndrome, congenital chloride-losing diarrhea, and cystic fibrosis are genetic causes of hypokalemia with low urine K+ excretion. With respect to a high rate of K+ excretion associated with faster Na+ disorders (mineralocorticoid excess states), glucoricoid-remediable aldosteronism and congenital adrenal hyperplasia due to either 11beta-hydroxylase and 17alpha-hydroxylase deficiencies in the adrenal gland, and Liddle's syndrome and apparent mineralocorticoid excess in the kidney form the genetic causes. Among slow Cl- disorders (normal blood pressure, low extracellular fluid volume), Bartter's and Gitelman's syndrome are most common with hypochloremic metabolic alkalosis. Renal tubular acidosis caused by mutations in the basolateral Na+/HCO3 - cotransporter (NBC1) in the proximal tubules, apical H+-ATPase pump, and basolateral Cl-/HCO3 - exchanger (anion exchanger 1, AE1) in the distal tubules and carbonic anhydroase II in both are genetic causes with hyperchloremic metabolic acidosis. Further work on genetic causes of hypokalemia will not only provide a much better understanding of the underlying mechanisms, but also set the stage for development of novel therapies in the future.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Renal Tubular ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Aldosterone ; Alkalosis ; Blood Pressure ; Carbon ; Cystic Fibrosis ; Diarrhea ; Extracellular Fluid ; Humans ; Hyperaldosteronism ; Hypokalemia ; Hypotension ; Ion Channels ; Kidney ; Mineralocorticoid Excess Syndrome, Apparent ; Paralyses, Familial Periodic ; Renin

Carcinosarcoma of gallbladder (CSGB) is a rare malignancy characterized by malignant epithelial and mesenchymal components. Its pathogenesis is unknown and most CSGBs are associated with poor survival because the disease normally presents at an advanced stage, and as a result, curative resection is uncommon. This report describes a case that underwent curative resection. A 77-year-old woman presented with right upper quadrant pain. The preoperative diagnosis was gallbladder (GB) cancer, and thus, curative radical cholecystectomy was performed. However, pathologic examination of the surgical specimen revealed that the tumor was composed of two histologic components of squamous cell carcinoma and spindle cell sarcoma, which was consistent with a diagnosis of carcinosarcoma. The tumor was found to extend to the perimuscular connective tissue and to have metastasized to one lymph node (LN). The prognosis of CSGB remains poor despite curative resection, and thus, the authors recommend that effort be made to improve surgical outcomes.
Aged ; Carcinoma, Squamous Cell ; Carcinosarcoma ; Cholecystectomy ; Connective Tissue ; Female ; Gallbladder ; Humans ; Lymph Nodes ; Prognosis ; Sarcoma

Granular cell tumor is a rare and usually benign tumor that occasionally involves the breast. The physical examination, the mammographic and ultrasonographic findings and the pathologic findings are often suggestive of carcinoma. We report here a rare case of granular cell tumor of the breast that mimicked carcinoma on the mammography, ultrasonography and MR imaging.
Breast* ; Granular Cell Tumor* ; Magnetic Resonance Imaging ; Mammography ; Physical Examination ; Ultrasonography

PURPOSE: To analyse the effectiveness of percutaneous treatment of central venous obstruction in patients undergoing hemodialysis. MATERIALS AND METHODS: In 100 patients, 107 central venous strictures [56 subclavian (occlusion:21, stenosis:35) and 51 innominate (occlusion:23, stenosis:28)] were assessed, and 170 percutaneous angioplasty procedures were performed. Balloon dilation of the venous lumen was the preferred mode, but if dilation was incomplete we inserted a stent at the site of the stricture. Technical success, procedural complications and the long-term patency rate were evaluated, and the patency difference according to location and degree of stricture, the existence of DM, and any history of central catheter insertion were also determined. RESULTS: We inserted 52 stents in 170 procedures, in 157 (92.4%) of which initial technical success was achieved. Stent migration occurred in two cases and balloon rupture in three. The 6- and 12-month primary patency rates were 46.2% and 24.1%, respectively, and the mean patency rate was 8.5 months. The 1-, 2- and 3-year accumulative patency rates were 59.8%, 47.5% and 35.7%, respectively, and the mean patency rate was 23.5 months. Other than in the history of central catheter insertion, there were no statistically significant differences in patency rates (p=0.0128). CONCLUSION: In hemodialysis patients with a central venous stricture, percutaneous angioplasty is a safe and useful procedure, but to maintain long-term central venous patency, repeated interventions are required.
Angioplasty ; Catheters ; Constriction, Pathologic ; Dialysis ; Humans ; Renal Dialysis* ; Rupture ; Stents ; Subclavian Vein

Human diphyllobothriasis is a parasitic disease caused by ingestion of larvae (plerocercoids) in raw or undercooked fish and commonly found in temperate areas. Rare cases were reported in tropical or subtropical areas especially in children. The first documented case of pediatric diphyllobothriasis in Taiwan had been reported 11 years ago. Here, we report another 8-year-old girl case who presented with a live noodle-like worm hanging down from her anus, with no other detectable symptoms. We pulled the worm out and found the strobila being 260 cm in length. Examination of gravid proglottids showed that they were wider than their lengths, containing an ovoid cirrus sac in the anterior side and the rosette-shaped uterus. Eggs extracted from the uterus were ovoid and operculated. Diphyllobothrium latum was confirmed by molecular analysis of the mitochondrial DNA cytochrome c oxidase subunit 1 (cox1) gene. The girl was treated with a single oral dose of praziquantel, and no eggs or proglottids were observed from her stool in the subsequent 3 months. The reemergence of human diphyllobothriasis in non-endemic countries is probably due to prevalent habit of eating imported raw fish from endemic areas. This pediatric case raised our concern that human diphyllobothriasis is likely underestimated because of unremarkable symptoms.
Anal Canal ; Child ; Diphyllobothriasis ; Diphyllobothrium* ; DNA, Mitochondrial ; Eating ; Eggs ; Electron Transport Complex IV ; Female ; Humans ; Larva ; Ovum ; Parasitic Diseases ; Praziquantel ; Taiwan* ; Uterus

PURPOSE: Pheochromocytoma is a catecholamine-secreting tumor that arises from the chromaffin cells of the sympathoadrenal system and presents with the typical symptoms of palpitation, diaphoresis, head ache, and hypertension. Some pheochromocytoma may be discovered during computed tomography of the abdomen while evaluating the abdomen and may be clinically unsuspected before surgery. The aim of this study was to analyze the clinical presentation of pheochromocytoma and to identify the charac teristics of clinically unsuspected pheochromocytomas. METHODS: From June 1995 to October 1999, 34 histopathologically confirmed pheochromocytomas were diagnosed at Samsung Medical Center, Seoul, Korea. The records of all 34 patients, who had undergone a surgical resection for pheochromocytoma and paraganglioma, were reviewed for demographic information, presenting signs and symptoms, bio chemical profiles that led to the laboratory diagnosis of pheochromocytoma, tumor localization studies, associated diseases, preoperative preparation, surgical procedures, and tumor pathology. RESULTS: The most prominent symptoms of pheochromocytomas was palpitation, which was present in 21 (62%) of the 34 cases. Hypertension, headache, and sweating were in 18 (53%), 17 (50%), and 9 (27%) patients, respectively. In 14 (41%) of the 34 patients, the pheochromocytoma were incidentally found exhibiting none of the typical symptoms. Eight (24%) were clinically unsuspected and were undiagnosed prior to surgery. A preoperative diagnosis of either retroperitoneal or pancreatic mass was made in six cases (18%), and a diagnosis of a nonfunctioning adrenal mass was made in two (6%). These eight patients underwent surgery without any preoperative pharmacological treatment. Sporadic cases accounted for 85% of the patients (29 patients), and associated conditions included MEN 2A in four (12%) and MEN 2B in one (3%).The sensitivities of the urinary evaluation were metanephrine 85%, norepinephrine 81%, epinephrine 73%, and vanillylmandelic acid (VMA) 73%. The combination of urinary metanephrine and VMA had a diagnostic sensitivity of 92%. The sensitivities of the localization modalities were CT 100%(33/33), MRI 100% (3/3). USG 94.8% (18/19), MIBG 70% (7/10). Four of the 8 patients who received no preoperative preparation and 10 of the 26 patients who received phenoxybenzamine daily for at least 2 weeks) had intraoperative hypertension or arrythmia. One patient received a laparoscopic adrenalectomy. The rest of the patients underwent surgery through open transabdominal incision. The mean tumor diameter of the malignant pheochromocytomas was 10.8 cm (range from 4.5 to 16 cm), and that of the benign pheochromocytoma was 6.1 cm (range from 3 to 10 cm) showing marked differences between two groups. This suggests that malignant tumors tend to be larger than benign tumors. Of the 4 malignant cases, recurrent disease occurred at the site of the original tumor in 1 patient, metastasis didnt occur in any case. CONCLUSION: High index of suspicion for a pheochromocytoma must be maintained in patients with retroperitonal and abdominal masses or isolated hypertension and in patients with multiple endocrine neoplasms. The readily available, sensitive assays for plasma and urinary catecholamines and their me tabolites and the newly developed modern imaging techniques, such as CT and I-131-MIBG, when used together, may help inmaking correct diagnosis of pheochromocytoma in patients without paroxysmal symptoms or hypertension.
3-Iodobenzylguanidine ; Abdomen ; Adrenalectomy ; Arrhythmias, Cardiac ; Catecholamines ; Chromaffin Cells ; Clinical Laboratory Techniques ; Diagnosis ; Epinephrine ; Head ; Headache ; Humans ; Hypertension ; Korea ; Magnetic Resonance Imaging ; Metanephrine ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia Type 2b ; Neoplasm Metastasis ; Norepinephrine ; Paraganglioma ; Pathology ; Phenoxybenzamine ; Pheochromocytoma* ; Plasma ; Seoul ; Sweat ; Sweating ; Vanilmandelic Acid

PURPOSE: To evaluate the usefulness of percutaneous management and prognosis in venous rupture during angioplasty of hemodialytic arteriovenous fistulas. MATERIALS AND METHODS: Among 814 patients who underwent angioplasty on account of inadequate hemodialysis, 63[39 women and 24 men aged 20-78 (mean, 55.8) years] were included in this study. All 63 had peripheral venous stenosis. Venous rupture was diagnosed when contrast leakage was seen at venography after percutaneous angioplasty (PTA). In order to manage venous rupture, the sites at which this occurred were compressed manually for 3-5 minutes or blood flow was blocked with a balloon catheter for the same period. In one case, a stent was inserted at the rupture site. Using the Kaplan-Meier method, we investigated the patency rate of arteriovenous fistula (AVF) in cases of successful PTA. We also compared PTA patency rates in cases with and without peripheral venous rupture. RESULTS: Venous rupture occurred in 38 cephalic, 16 brachial, and 9 basilic veins. In 63 patients, bleeding stopped and in 54 (85.7%) of these, PTA was successful. Among the nine failed cases, dilatation was incomplete in five, though bleeding had stopped. In patients with brachial and cephalic vein rupture, the venous tract at the rupture site was not located. Two patients underwent surgery: one of these experienced brachial venous rupture, with incontrollable bleeding, and the other had nerve compression symptoms due to hematoma. Among 54 patients in whom PTA was successful, the primary and secondary six-month rates for angioaccess were 47.9% and 81.2%, and the mean patency period was 6.1 and 15.8 months, respectively. In cases of non-venous rupture, the mean patency period was 9.6 months, significantly longer than in cases involving venous rupture (p=0.02). CONCLUSION: Venous rupture occurring during the PTA of hemodialytic AVF can be managed percutaneously.
Angioplasty* ; Arteriovenous Fistula ; Catheters ; Constriction, Pathologic ; Dilatation ; Female ; Hematoma ; Hemorrhage ; Humans ; Male ; Ocimum basilicum ; Phlebography ; Prognosis ; Renal Dialysis* ; Rupture* ; Stents ; Veins

BACKGROUND AND OBJECTIVES: Age is a traditional risk factor for open-heart surgery. The efficacy and safety of transcatheter edge-to-edge mitral valve repair, using MitraClip (Abbott Vascular), has been demonstrated in patients with severe mitral regurgitation (MR). Since octogenarians or older patients are usually deferred to receive open-heart surgery, the main interest of this study is to elucidate the procedural safety and long-term clinical impact of MitraClip in elderly patients. METHODS: Patients with symptomatic severe MR were evaluated by the heart team. For those with high or prohibitive surgical risks, transcatheter mitral valve repair was performed in hybrid operation room. Transthoracic echocardiography (TTE), blood tests, and six-minute walk test (6MWT) were performed before, 1-month, 6-months, and 1 year after index procedure. RESULTS: A total of 46 consecutive patients receiving MitraClip procedure were enrolled. Nineteen patients (84.2±4.0 years) were over 80-year-old and 27 (73.4±11.1 years) were younger than 80. Compare to baseline, the significant reduction in MR severity was achieved after the procedure and sustained. All the patients benefited from significant improvement in New York Heart Association functional class. The 6-minute walk test (6MWT) increased from 259±114 to 319±92 meters (p=0.03) at 1 year. The overall 1-year survival rate was 80% in the elderly and 88% in those <80 years, p=0.590. Baseline 6MWT was a predictor for all-cause mortality (odds ratio, 0.99; 95% confidence interval, 0.982–0.999; p=0.026) after the MitraClip procedure. CONCLUSIONS: Trans-catheter edge-to-edge mitral valve repairs are safe and have positive clinical impact in subjects with severe MR, even in advanced age.
Aged ; Aged, 80 and over ; Echocardiography ; Heart ; Hematologic Tests ; Humans ; Mitral Valve Insufficiency ; Mitral Valve ; Mortality ; Risk Factors ; Survival Rate