Apert's syndrome(acrocephalosyndactyly) is a rare congenital anomaly that is characterized by the combination of premature fusion of multiple cranial sutures primarily involving the coronal suture and severe symmetrical syndactyly of fingers and toes. Some patients of this syndrome have various abnormalities of the central nervous system. We experienced a case of Apert's syndrome with craniofacial malformations, symmetric syndactyly, occipital encephalocele and hypogenesis of corpus callosum. She had a oxycephalic head with small sized anterior fontanelle, elongated forehead, hypertelorism, down-slanting palpebral fissures, flattened nose, cleft palate, low set ears and short neck. A 5x3 cm sized scalp-covered soft mass protruded in the occipital area through defect of the occipital bone. MRI showed hypogenesis of corpus callosum, occipital encephalocele, dilatation of the lateral and the third ventricles. She also had hands and feet with symmetric syndactyly involved skin and soft tissue but not bones.
Central Nervous System ; Cleft Palate ; Corpus Callosum* ; Cranial Fontanelles ; Cranial Sutures ; Dilatation ; Ear ; Encephalocele* ; Fingers ; Foot ; Forehead ; Hand ; Head ; Humans ; Hypertelorism ; Magnetic Resonance Imaging ; Neck ; Nose ; Occipital Bone ; Skin ; Sutures ; Syndactyly ; Third Ventricle ; Toes

We evaulated the effectiveness and adverse effects of deep sclerectomy with collagen implant (DSCI), which is a kind of nonpenetrating filtering surgery. In this retrospective study, DSCI was performed in 15 eyes of 11 glaucoma patients. An trabeculo-Descemet's membrane (TDM) window is created by a deep sclerokeratectomy, and the collagen implant is placed in the sclera bed under a superficial flap (deep sclerectomy with collagen implant). In 3 of 15 eyes the DSCI was intraoperatively converted to conventional filtering surgery for a large perforation of the TDM. These eyes were not included in the results of the surgical outcomes. The mean age of the patients was 50.3 +/- 14.4 years, and the mean follow-up period was 11.1 +/- 5.9 months. A diagnosis of chronic open angle glaucoma was made in 7 eyes and a diagnosis of secondary glaucoma in 5 eyes. The mean preoperative IOP was 25.8 +/- 11.9 mmHg, the immediate postoperative IOP was 6.4 +/- 2.9 mmHg, and at the final follow-up, the IOP was 11.9 +/- 2.5 mmHg. The IOP in 5 eyes was under 6 mmHg temporarily. However, there was no serious complication such as shallow anterior chamber. DSCI is considered to be a good surgical procedure that has similar surgical outcomes to a conventional trabeculectomy without serious complications.
Adult ; Aged ; Collagen/*administration & dosage/therapeutic use ; Female ; Glaucoma/etiology/*surgery ; Glaucoma, Open-Angle/surgery ; Human ; Male ; Middle Age ; *Ophthalmologic Surgical Procedures ; *Prostheses and Implants ; Retrospective Studies ; Sclera/*surgery ; Treatment Outcome

PURPOSE: Oral capecitabine has been used as adjuvant therapy for colorectal cancer patients since the 1990s. Patient-initiated cessation or reduced use of capecitabine occurs widely for various reasons, yet the consequences of these actions are unclear. The present study sought to clarify treatment outcomes in such patients. METHODS: The study included 173 patients who had been diagnosed with stage II or III colon cancer according to the pathologic report after radical surgery at Samsung Medical Center from May 2005 to June 2007 and who had received capecitabine as adjuvant therapy. The patients were divided into groups according to whether the dose was reduced (I, dose maintenance; II, dose reduction) or stopped (A, cycle completion; B, cycle cessation). Recurrence and disease-free survival rates between the two groups each were analyzed. RESULTS: Of the 173 patients, 128 (74.6%) experienced complications, most frequently hand-foot syndrome (n = 114). Reduction (n = 35) or cessation (n = 18) of medication was most commonly due to complications. Concerning reduced dosage, both groups displayed no statistically significant differences in recurrence rate and 3-year disease-free survival rate. Concerning discontinued medication use, the cycle completion group showed an improved recurrence rate (P = 0.048) and 3-year disease-free survival rate (P = 0.028). CONCLUSION: The results demonstrate that maintaining compliance with capecitabine as an adjuvant treatment for colon cancer to preventing complications positively affects patient prognosis.
Capecitabine ; Colon ; Colonic Neoplasms ; Colorectal Neoplasms ; Compliance ; Deoxycytidine ; Disease-Free Survival ; Fluorouracil ; Hand-Foot Syndrome ; Humans ; Prognosis ; Recurrence

Purpose: Laparoscopic colorectal surgery is technically demanding and needs a longer learning curve than open surgery. HALS (hand-assisted laparoscopic surgery) is a useful alternative to conventional laparoscopic surgery (CLS) because of its palpability and hand dissection. We compared the learning curves between HALS and CLS for colorectal surgery. Methods: A prospective study without randomization was conducted with the participation of two colorectal surgeons who had not experienced a laparoscopic colorectal operation. The collected data included operative features, oncologic outcomes, and early clinical outcomes. Fifty patients were enrolled in each group, the HALS group and the CLS group. Results: None of the operations converted to open surgery. The operative time was significantly shorter in the HALS group than in the CLS group (149.6+/-34.6 minutes versus 179.1+/-36.5 minutes, P<0.001). On a subgroup analysis of the operative time in the anterior resection, the operative time was consistent after the 13th operation in HALS group. However, in CLS group, there was a continuous fluctuation of the operative time until 25 cases. In regard to the oncologic outcome, the numbers of total harvested lymph nodes and the proximal and the distal margins in the anterior resection showed no statistical differences (P=0.400, P=0.908, and P=0.073, respectively). The early clinical results were similar in both groups. Conclusions: In the learning curve study, the HALS group had a shorter operative time and reached a learning curve plateau earlier than the CLS group. Other parameters, such as the oncologic results and the early postoperative clinical outcomes, showed no differences between the two groups.

PURPOSE: An anorectal melanoma (AM) is a very rare tumor. However, sufficient data supporting effective surgical options for the disease do not exist. This retrospective review aimed to analyze treatment outcomes for an AM. METHODS: From June 1999 to December 2008, we retrospectively reviewed a prospectively collected consecutive series of 19 patients who had undergone a surgical resection for an AM at a single institute. Surgical method and clinicopathological factors were analyzed. RESULTS: The median age was 61.4 years (range, 46 to79 years). Main symptoms were an anal mass, hematochezia, perianal pain, tenesmus, fecal incontinence, and bowel habit change. The average duration of symptoms before diagnosis was 7.8 months (range, 1 to 36 months). S-100 and HMB-45 were positive in all patients, even in non-melanin pigmentation. There were 12 abdominoperineal resections (APRs) and 7 wide local excisions (WEs). The APR showed longer overall survival when compared with the WE (64.1 months vs. 10.9 months, P < 0.001). No patients who underwent a WE survived more than 13 months. CONCLUSION: A high index of suspicion is necessary to establish the diagnosis for an AM in patients with anal symptoms, and S-100 and HMB-45 can be useful markers for an AM. Even with the small number of cases and the short follow-up, our data suggest that an APR for an AM may provide longer survival than a WE.
Fecal Incontinence ; Follow-Up Studies ; Gastrointestinal Hemorrhage ; Humans ; Melanoma ; Pigmentation ; Prospective Studies ; Retrospective Studies

PURPOSE: Restorative proctocolectomy with an ileal pouch anal anastomosis (IPAA) is the main surgical treatment for patients with familial adenomatous polyposis (FAP). With the advancements of minimal-invasive surgery, proctocolectomy with an ileal pouch anal anastomosis is increasingly being done by laparoscopic methods. This report aims to compare the presumed benefits of the laparoscopic approach with that of open surgery. METHODS: We reviewed 25 patients who underwent total proctocolectomy with IPAA between 1994 and 2009. The data of 9 patients who underwent laparoscopic surgery was analyzed and compared with the data of 16 patients who underwent the conventional open surgery. RESULTS: Laparoscopic proctocolectomy with an ileal pouch anal anastomosis (IPAA) was performed successfully without severe complications in 9 patients. The mean operation time of the laparoscopic group was 352 min, and this was significantly longer than that of the conventional group (252 min). The mean intra-operative blood loss, time to first flatulance, the hospital stay and the time to starting an oral diet were not significantly different from that of the open group. CONCLUSION: Laparoscopic IPAA is a feasible and safe procedure due to the reduced trauma and pain and a more favorable cosmetic result. As the technique and instrumentation for laparoscopic colon surgery are developed, this procedure will likely become an appealing option for the management of patients with FAP.
Adenomatous Polyposis Coli ; Colon ; Cosmetics ; Diet ; Humans ; Laparoscopy ; Length of Stay ; Proctocolectomy, Restorative

PURPOSE: CTAP(CT during arterial portography) has been shown to be the most sensitive technique available for the detection of hepatic mass. But because of many false positive lesions, it is important to interpretate the findings correctly. So we tried to analyse the false positive findings in CTAP. MATERIALS AND METHODS: Materials were 47 patients that had (;TAP for the detection of hepatic lesions. After performing superior roesenteric artery (SMA) arterial portography for the detection of vascular variation, CT^P was done. 100 to 150 cc of 50% diluted nonionic contrast media was injected at 2--3ml/sec rate. Spiral CT was used with 8mm slice thickness and 8mm/sec table speed. We compared the findings of CTAP with CTHA(CT during hepatic arteriography), enhanced (;T, anglogram, US, Lipiodol CT and biopsy. RESULTS: Twenty nine false positive lesions were found. There were 11 peritumoral defects, 7 straight line signs, 5 perihilar defects, 2 periligamentous defects, 3 subcapsular defects and 1 defect by cirrhosis. CONCLUSION: When CTAP is used for the evaluation of hepatic lesion(esp, preoperative evaluation), understanding of the false positive findings and the characterization of the lesion through multi-modality approaches are needed for the correct diagnosis and the proper treatment.
Arteries ; Biopsy ; Contrast Media ; Diagnosis ; Ethiodized Oil ; Fibrosis ; Humans ; Portography ; Tomography, Spiral Computed*

PURPOSE: In spite of the development of asthma management guidelines, there are discrepancies between the guidelines and real management. We surveyed the insights and the real management of asthma to assess the current status of its management in Korea. METHODS: The objects of the survey were 266 parents with asthmatic children, who attended an educational lecture by the Korean World Asthma Day Project Office (KWADPO). Face to face interviews with questionnaires of 11 questions about understanding of asthma maintenance therapy, actual conditions of taking medicine and the impact of asthma on the family life were undertaken. RESULTS: The Median age of the patients was 5.2 years old and their parents' age ranged from those in their twenties to those in their forties. The number of the patients actually taking asthma maintenance medicine (40.6 percent) was a little bit lower than the level of awareness (53.0 percent). As a controller, patients are using short-acting beta2 inhalers (35.3 percent), steroid inhalers (including combination inhaler) (31.6 percent), leukotriene receptor antagonists (24.8 percent), antihistamines (25.6 percent), theophylline (2.3 percent), etc. Regular visits to hospital or clinic were done in 53.0 percent of the patients. As a controllers, oral medications (69.2 percent) was preferred to inhalers (18.0 percent) due to better compliance and easier dosage adjustment. CONCLUSION: According to the survey, asthma had negative effects on the life quality of patients and their families. Remarkable discrepancies were noticed between the guidelines and the real-world status of taking medicine in asthmatic children. It is necessary to have patients participate actively in making asthma management plans to raise their efficacy.
Asthma* ; Child* ; Compliance ; Histamine Antagonists ; Humans ; Korea ; Leukotriene Antagonists ; Nebulizers and Vaporizers ; Parents ; Quality of Life ; Surveys and Questionnaires ; Theophylline

PURPOSE: To evaluate the hemodynamic change by portal tumor thrombus in hepatocellular carcinoma(HCC). MATERIALS AND METHODS: We reviewed 35 cases of combined spiral CTHA and CTAP in 25 HCC patients with portal tumorthrombus from April 1993 to October 1994, regarding to portal tumor thrombus, the involved area of arterioportal(AP) shunt and the development of cavernous transformation of portal vein, in comparison with hepaticand superior mesenteric arteriography. RESULTS: Spiral CTHA showed hyperattenuating tumor, portal tumor thrombus and hyperattenuating peritumoral parenchymal area. Spiral CTAP showed perfusion defect area including tumor, portal tumor thrombus and peritumoral area distal to portal vein obstruction. In 15 cases, portal tumor thrombus showed intraluminal and marginal hyperattenuating linear structures on CTHA due to transvasal AP shunt and tumor feeding arteries, which were corresponding to thread and streaks sign on hepatic arteriography. Cavernous transformation of portal vein was demonstrated in 15 cases as irregular periportal hyperattenuating collateral vessels on spiral CTAP. In 32 cases, portal vein was visualized on CTHA due to AP shunt. And according to shunt amount, we classified AP shunt into 4 grades. Grade I means only the presence of portal tumor thrombus without AP shunt, grade II with segmental AP shunt, grade III with one lobar AP shunt, and grade IV with both lobar AP shuntor the presence of cavernous transformation of portal vein. Grade I was seen in 3, grade II in 4, grade III in 13 and grade IV in 15 cases. CONCLUSION: Variable CTHA and CTAP findings were shown in HCC patients with portal tumor thrombus according to the amount of AP shunt and the presence of cavernous transformation of portal vein. Combined CTHA and CTAP are useful to differentiate the tumor thrombus from simple thrombus and are very sensitive method for detecting AP shunt. Understanding these findings related with portal tumor thrombus is important topredict patient}s prognosis and to decide treatment method.
Angiography* ; Arteries ; Carcinoma, Hepatocellular* ; Hemodynamics* ; Humans ; Perfusion ; Portal Vein ; Portography* ; Prognosis ; Thrombosis*

In the present study, the underlying mechanisms for diabetic functional derangement and insulin effect on diabetic cardiomyopathy were investigated with respect to sarcoplasmic reticulum (SR) Ca2+-ATPase and phospholamban at the transcriptional and translational levels. The maximal Ca2+ uptake and the affinity of Ca2+-ATPase for Ca2+ were decreased in streptozotocin-induced diabetic rat cardiac SR, however, even minimal amount of insulin could reverse both parameters. Levels of both mRNA and protein of phospholamban were significantly increased in diabetic rat hearts, whereas the mRNA and protein levels of SR Ca2+-ATPase were significantly decreased. In case of phospholamban, insulin treatment reverses these parameters to normal levels. Minimal amount of insulin could reverse the protein levels; however, it could not reverse the mRNA level of SR Ca2+-ATPase at all. Thus, the decreased SR Ca2+ uptake appear to be largely attributed to the decreased SR Ca2+-ATPase level, which is further impaired due to the inhibition by the increased level of phospholamban. These results indicate that insulin is involved in the control of intracellular Ca2+ in the cardiomyocyte through multiple target proteins via multiple mechanisms for the decrease in the mRNA for both SR Ca2+-ATPase and phospholamban which are unknown and needs further study.
Animals ; Diabetic Cardiomyopathies ; Heart* ; Insulin* ; Myocytes, Cardiac ; Rats ; RNA, Messenger ; Sarcoplasmic Reticulum*