• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권2호
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• pp.262-266
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• 1999

Obstruction of the extrahepatic bile ducts is the most common cause of conjugated hyperbilirubinemia in early infancy. More than 90% of such obstructive lesions are accounted for by extrahepatic biliary atresia. A rare lesion is obstruction of the common duct by impacted, thickened secretions and bile. Bile plug syndrome is defined as extrahepatic obstruction of the bile ducts by bile sludge in term infants without anatomic abnormalities, congenital chemical defects of bile, or hepatocellular lesions. Obstruction of extrahepatic ducts by plugs of biliary material apperas to be due to the inspissation and precipitation of bile and mucus within the lumen of the ducts. Cholestasis and precipitation of bile develop in association with abnormal composition of bile in cystic fibrosis, hepatocellular damage, prolonged erythroblastic jaundice, altered biliary dynamics with total parenteral nutrition, gut dysfunction, diuretic therapy, exchange transfusions and perinatal hemolysis. In those cases, the term inspissated bile syndrome is used. The clinical and laboratory findings in bile plug syndrome are identical to those observed in biliary atresia and choledochal cyst. The diagnosis can be suspected based on the findings of clinical and laboratory examinations together with hepatobiliary imaging, ultrasonography, radionuclide scan and liver biopsy. We experienced a case of spontaneous resolution of bile plug syndrome in a 4-year-old girl. We report this case with brief review related literatures.

• Asian Pacific Journal of Cancer Prevention
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• 제16권13호
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• pp.5549-5556
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• 2015

Background: Cancer has important social consequences with cancer registration as the basis of moving towards prevention. The present study aimed to estimate the completeness of registration of the ten most common cancers in patients referred to selected hospitals in Shiraz, Iran by using capture-recapture method. Materials and Methods: This cross-sectional analytical study was performed in 2014 based on the data of 2009, on a total of 4,388 registered cancer patients. After cleaning data from two sources, using capture-recapture common findings were identified. Then, the percentage of the completeness of cancer registration was estimated using Chapman and Chao methods. Finally, the effects of demographic and treatment variables on the completeness of cancer registration were investigated. Results: The results showed that the percentages of completeness of cancer registration in the selected hospitals of Shiraz were 58.6% and 58.4%, and influenced by different variables. The age group between 40-49 years old was the highest represented and for the age group under 20 years old was the lowest for cancer registration. Breast cancer had the highest registration level and after that, thyroid and lung cancers, while colorectal cancer had the lowest registration level. Conclusions: According to the results, the number of cancers registered was very few and it seems that factors like inadequate knowledge of some doctors, imprecise diagnosis about the types of cancer, incorrectly filled out medical documents, and lack of sufficient accuracy in recording data on the computer cause errors and defects in cancer registration. This suggests a necessity to educate and teach doctors and other medical workers about the methods of documenting information related to cancer and also conduct additional measures to improve the cancer registration system.

• Earthquakes and Structures
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• 제18권1호
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• pp.113-127
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• 2020

In this study, the behavior of external beam-column joints reinforced by plain and deformed bars with non-seismic reinforcement details is investigated and compared. The beam-column joints represented in this study include a benchmark specimen by seismic details in accordance with ACI 318M-11 requirements and four other deficient specimens. The main defects of the non-seismic beam-column joints included use of plain bar, absence of transverse steel hoops, and the anchorage condition of longitudinal reinforcements. The experimental results indicate that using of plain bars in non-seismic beam-column joints has significantly affected the failure modes. The main failure mode of the non-seismic beam-column joints reinforced by deformed bars was the accumulation of shear cracks in the joint region, while the failure mode of the non-seismic beam-column joints reinforced by plain bars was deep cracks at the joint face and intersection of beam and column and there was only miner diagonal shear cracking at the joint region. In the other way, use of plain bars for reinforcing concrete can cause the behavior of the substructure to be controlled by slip of the beam longitudinal bars. The experimental results show that the ductility of non-seismic beam-column joints reinforced by plain bars has not decreased compared to the beam-column joints reinforced by deformed bars due to lack of mechanical interlock between plain bars and concrete. Also it can be seen a little increase in ductility of substructure due to existence of hooks at the end of the development length of the bars.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.57-60
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• 2015

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

• Journal of Periodontal and Implant Science
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• 제38권3호
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• pp.535-542
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• 2008

Purpose: The aim of this retrospective study is to evaluate survival rate of implant and bone formation, to analyze failure contribution factor. Material and Methods: A total of 52 consecutive patients(35 male, 17 female, mean age 49 years) with 104 osseous defects were treated during the period from October 2004 to June 2007 with a simultaneous or staged GBR approach using non-resorbable or resorbable membranes combined with autogenous bone grafts or xenograft(Bio-Oss, Bio-cera, BBP). Result: A total of 32(30,8%) of 104 GBR-treated sites failed the bone formation and a total of 5(5.6%) of 89 implants were removed. Early exposure of the membrane has significantly affected bone formation(p<0.05). Non-resorbable membrane showed more exposure of the membrane and low success rate of bone formation than resorbable membrane(p<0.05). There were no difference between success rate of bone formation and using autogenous bone or graft materials. There were no statistically significant difference between success rate of bone formation and smoking or using PRP. Mandible showed more success rate of bone formation than maxilla(p<0.05). Conclusion: Early exposure of the membrane, membrane type and maxilla/mandible type have influence on success rate of bone formation during GBR.

• The Korean Journal of Physiology and Pharmacology
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• 제23권6호
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• pp.539-547
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• 2019

Anoctamin 5 (ANO5)/TMEM16E belongs to a member of the ANO/TMEM16 family member of anion channels. However, it is a matter of debate whether ANO5 functions as a genuine plasma membrane chloride channel. It has been recognized that mutations in the ANO5 gene cause many skeletal muscle diseases such as limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi muscular dystrophy type 3 (MMD3) in human. However, the molecular mechanisms of the skeletal myopathies caused by ANO5 defects are poorly understood. To understand the role of ANO5 in skeletal muscle development and function, we silenced the ANO5 gene in C2C12 myoblasts and evaluated whether it impairs myogenesis and myotube function. ANO5 knockdown (ANO5-KD) by shRNA resulted in clustered or aggregated nuclei at the body of myotubes without affecting differentiation or myotube formation. Nuclear positioning defect of ANO5-KD myotubes was accompanied with reduced expression of Kif5b protein, a kinesin-related motor protein that controls nuclear transport during myogenesis. ANO5-KD impaired depolarization-induced $[Ca2^{+}]_i$ transient and reduced sarcoplasmic reticulum (SR) $Ca^{2+}$ storage. ANO5-KD resulted in reduced protein expression of the dihydropyridine receptor (DHPR) and SR $Ca^{2+}-ATPase$ subtype 1. In addition, ANO5-KD compromised co-localization between DHPR and ryanodine receptor subtype 1. It is concluded that ANO5-KD causes nuclear positioning defect by reduction of Kif5b expression, and compromises $Ca^{2+}$ signaling by downregulating the expression of DHPR and SERCA proteins.

• Parasites, Hosts and Diseases
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• 제51권5호
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• pp.503-510
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• 2013

Toxoplasma gondii is an apicomplexan parasite with a broad host range of most warm-blooded mammals including humans, of which one-thirds of the human population has been infected worldwide which can cause congenital defects, abortion, and neonatal complications. Here, we developed a rapid diagnostic test (RDT) for T. gondii infection. Antigenic N-terminal half of the major surface antigen (SAG1) was linked with intrinsically unstructured domain (IUD) of dense granule protein 2 (GRA2). The recombinant GST-GRA2-SAG1A protein was successfully expressed and purified as 51 kDa of molecular weight. Furthermore, antigenicity and solubility of the rGST-GRA2-SAG1A protein were significantly increased. The overall specificity and sensitivity of GST-GRA2-SAG1A loaded RDT (TgRDT) were estimated as 100% and 97.1% by comparing with ELISA result which uses T. gondii whole cell lysates as the antigen. The TgRDT tested with Uganda people sera for field trial and showed 31.9% of seroprevalence against T. gondii antibody. The TgRDT is proved to be a kit for rapid and easy to use with high accuracy, which would be a suitable serodiagnostic tool for toxoplasmosis.

• Archives of Reconstructive Microsurgery
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• 제6권1호
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• pp.56-62
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• 1997

Latissimus dorsi(LD) muscle is the largest transplantable block of vascularized tissue. Since LD free flap was introduced in 1970's, this flap has been widely used for the reconstruction of large soft tissue defect of the limb. From 1981 to 1996, we had experienced 37 cases of LD free flap. Serratus anterior muscle was combined with LD in three of them whose defects were very large. The average age of the patients was 31 years(range : 4-74 years), and thirty one patients were male. Trauma was cause of the defect in every case. For the recipient sites, the foot and ankle was the most common(22 cases); and the knee and lower leg(11 cases), the elbow and forearm(2 cases), the hand(2 cases) were the next. The duration of follow-up was averaged as 16 months(range: 6 months-12 years). Thirty one cases(84%) out of 37 were successful transplantations. In one case the failure of the flap was due to heart attack and subsequent death of the patient. One failure was caused by sudden violent seizure of the patient who had organic brain damage. Immediate reexploration of the flap was performed in 4 patients, and the flap survived in three of them. There was one necrosis of the grafted split-thickness skin on the survived LD flap. LD free flap was considered as one of the good methods, for the reconstruction of the large soft tissue defect of the limb.

• Archives of Plastic Surgery
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• 제40권6호
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• pp.721-727
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• 2013

Background One of the main concerns in orbital blowout fracture repair is a narrow operation field, due mainly to the innate complex three dimensions of the orbit; however, a deep location and extensive area of the fracture and soft tissue edema can also cause concern. Swelling of the orbital contents progresses as the operation continues. Mannitol has been used empirically in glaucoma, cerebral hemorrhage, and orbital compartment syndrome for decompression. The authors adopted mannitol for the control of intraorbital edema and pressure in orbital blowout fracture repair. Methods This prospective study included 108 consecutive patients who were treated for a pure blowout fracture from January 2007 to October 2012. For group I, mannitol was administered during the operation. Under general anesthesia, all patients underwent surgery by open reduction and insertion of an absorbable mesh implant. The authors compared postoperative complications, the reoperation rate, operation time, and surgical field improvement between the two groups. Results In patients who received intraoperative administration of mannitol, the reoperation rate and operation time were decreased; however, the difference was not statistically significant. The total postoperative complication rates did not differ. Panel assessment for the intraoperative surgical field video recordings showed significantly improved vision in group I. Conclusions For six years, mannitol proved itself an effective, reliable, and safe adjunctive drug in the repair of orbital blowout fractures. With its rapid onset and short duration of action, mannitol could be one of the best methods for obtaining a wider surgical field in blowout fracture defects.

• International Journal of Oral Biology
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• 제31권1호
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• pp.1-6
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• 2006

The primary cause of periodontitis is plaque-associated anaerobic gram-negative bacteria. As shown in the patients with defects in the number or function of neutrophils, innate immunity plays an important role in resistance to bacterial infection and periodontitis. Toll-like receptor 4(TLR4) is one of the key receptors that recognize the molecular patterns of microbes and initiate innate immune response. To understand the role of TLR4 in the pathogenesis of periodontitis, we investigated whether Asp299Gly of TLR4 mutation is associated with periodontitis in Korean population. Subjects for this study included 90 healthy subjects and 98 periodontitis patients. The Asp299Gly mutation was screened by PCR-Restriction Fragment Length Polymorphism(RFLP) of genomic DNA from blood cells using a primer that creates a NcoI restriction site only in the mutant allele. The Asp299Gly mutation was not found in all subjects tested. Our results suggest that the Asp299Gly mutation of TLR4 is very rare in a Korean population. Further mutation screening may be required to determine the role of TLR4 in the pathogenesis of periodontitis.