19 research outputs found
Various Techniques for the Surgical Treatment of Common Bile Duct Stones: A Meta Review
Common bile duct stones (CBDSs) may occur in up to 3%–14.7% of all patients for whom cholecystectomy is preformed. Patients presenting with CBDS have symptoms including: biliary colic, jaundice, cholangitis, pancreatitis or may be asymptomatic. It is important to distinguish between primary and secondary stones, because the treatment approach varies. Stones found before, during, and after cholecystectomy had also differing treatments. Different methods have been used for the treatment of CBDS but the suitable therapy depends on conditions such as patient' satisfaction, number and size of stones, and the surgeons experience in laparoscopy. Endoscopic retrograde cholangiopancreatography with or without endoscopic biliary sphincterotomy, laparoscopic CBD exploration (transcystic or transcholedochal), or laparotomy with CBD exploration (by T-tube, C-tube insertion, or primary closure) are the most commonly used methods managing CBDS. We will review the pathophysiology of CBDS, diagnosis, and different techniques of treatment with especial focus on the various surgical modalities
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene
How to Cite This Article: Ghafouri-Fard S, Hashemi-Gorji F, Fardaei M, Miryounesi M. Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. Iran J Child Neurol. Summer 2017; 11(3):57-60. AbstractAutosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E.Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion. This result presents a novel underlying genetic mechanism for LGMD type 2E.References1. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18(1):34-44.2. Bushby KM, Beckmann JS. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limbgirdle muscular dystrophies, Naarden, April 12-14, 2002. Neuromuscul Disord 2003;13(1):80-90.3. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2003;13(7-8):532-44.4. Araishi K, Sasaoka T, Imamura M, Noguchi S, Hama H, Wakabayashi E et al. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Hum Mol Genet 1999;8(9):1589-98.5. Pegoraro E, Hoffman EP. Limb-girdle muscular dystrophy overview. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2012.6. Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol 2006;13(2):104-14.7. Kaindl AM, Jakubiczka S, Lucke T, Bartsch O, Weis J, Stoltenburg-Didinger G, et al. Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mut 2005;26(3):279- 80.8. Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C et al. Revised spectrum of mutations in sarcoglycanopathies. European journal of human genetics. Europ J Hum Gene 2008;16(7):793- 803.9. Rivas E, Teijeira S, dos Santos MR, Porrit I, Leturcq F, Fernandez JM et al. Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. Acta Myol 2004;23(3):159-62.10. Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Gene 2000;37(2):102-7
Exosomal circular RNA: a signature for lung cancer progression
Membrane vesicles having a diameter of 30–150 nm are known as exosomes. Several cancer types secrete exosomes, which may contain proteins, circular RNAs (circRNAs), microRNAs, or DNA. CircRNAs are endogenous RNAs that do not code for proteins and can create continuous and covalently closed loops. In cancer pathogenesis, especially metastasis, exosomal circRNAs (exo-circRNAs) have a crucial role mainly due to the frequently aberrant expression levels within tumors. However, neither the activities nor the regulatory mechanisms of exo-circRNAs in advancing lung cancer (LC) are obvious. A better understanding of the regulation and network connections of exo-circRNAs will lead to better treatment for LCs. The main objective of the current review is to highlight the functions and mechanisms of exo-circRNAs in LC and assess the relationships between exo-circRNA dysregulation and LC progression. In addition, underline the possible therapeutic targets based on exo-circRNA modulating
Effect of topical combination of flaxseed oil and alcoholic extract of Ceylon cinnamon in full-thickness surgical wound healing in a rabbit model
The aim of the current study was to evaluate of wound healing activity of flaxseed oil and its combination with Cinnamon hydroalcoholic extract on excision of wound healing model in rabbit. Sixty New Zealand white rabbits were randomly allocated into 4 experimental groups. Two full-thickness skin excisional wounds were created on thoracolumbar region on each side of the dorsal midline in each rabbit. Rabbits in group 1 did not receive any treatments. In group 2, rabbits received placebo ointment; in group 3, animals were treated with flaxseed oil 2% ointment. In group 4, rabbits received ointment containing a combination of flaxseed 2%+Cinnamon hydroalcoholic extract 3%. Wound area (mm2) was determined on days 4, 8, 12, 16 and 20 using a transparent paper. Tissue samples were collected on days 3, 7, 14 and 20 for histopathological studies with Masson trichrome staining.
According to the results, ointment containing a combination of flaxseed oil 2%+Cinnamon hydroalcoholic extract 3% significantly decreased wound area on all days after wounding in comporison with the control (
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which started in early childhood. We analyzed CLCN1 sequence in this patient and other members of his family. We found a new missense mutation in CLCN1 gene (c.1886T>C, p.Leu629Pro). Co-segregation of this mutation with the disease was demonstrated by direct sequencing of the fragment in affected as well as unaffected members of this family. In addition, in silico analyses predicted that this nucleotide change would impair the protein function. Thus, this new nucleotide variation can be used for prenatal diagnosis in this family
The Effects of Utilizing an Innovative Method to Mimic a Prescription, named “Prescomime”, on Medical Students’ Learning and clinical Skills Development in Pharmacology Course
Introduction: Pharmacology is an extremely practical course and at the same time hard to learn. Utilizing practical and innovative methods facilitates learning of theoretical courses. Therefore, this research aimed to investigate the effects of an innovative role-based method named “Prescomime” on medical students’ learning and clinical skills development in pharmacology course.
Methods: This single-group post-test study was performed in the first and second semesters of 2012-2013 academic years among medical students in pharmacology course (all students: 22 in the first and 24 in the second semester) in North Khorasan University of Medical Sciences. The term Prescomime is derived from the words prescription and mimic and means mimic of a prescription. Participants were divided into two groups. The explorer group asked one of the participants in the same group, as a hypothetical middle class patient (without medical information), about her or his disease to get information about the medication that she or he had consumed in order to find that medication. Data collection tool was a researcher-made questionnaire in order to evaluate the method. Data were analyzed using descriptive and inferential statistics (ANOVA and T-test).
Results: The mean scores for the idea of implementation of this method were 4.09±0.05 in the first semester and 4.09±0.09 (out of 5) in the second semester which did not show a significant difference (p=0.9, t=0.19) however, a significant difference (p<0.0001, t=3.48) was found between the mean scores for the method of implementation in the first semester (3.02±0.87) and the second semester (4.05±0.17).
Conclusion: Findings showed that utilizing Prescomime in the form of role playing enhanced students’ motivation, self-confidence, and concentration on practical aspects of the course. Since there is no access to patients in theoretical courses, a combination of this method with theoretical courses might be the best solution to improve learning of pharmacology
Autosomal recessive polycystic kidney disorder due to two novel compound heterozygote mutations in PKHD1 gene: case report
Background: Autosomal recessive polycystic kidney disorder (ARPCKD) is one of the most prevalent hereditary disorders in neonates and children. Its frequency is between 1/6000 to 1/55000 births. In the most severe cases, it can be diagnosed prenatally by the presence of enlarged, echogenic kidneys and oligohydramnios. However, in the milder forms, clinical manifestations are usually detected in neonatal and childhood period. PKHD1 gene located on chromosome 6 is linked with this disorder. About half of detected mutations in this gene are missense ones. The largest protein product of this gene is called the FPC/polyductin complex (FPC). It is a single-membrane spanning protein whose absence leads to abnormal ciliogenesis in the kidneys.
Case presentation: Here we present a 5-year-old female patient affected with ARPCKD. She has been born to a non-consanguineous healthy Iranian parents. No similar disorder has been seen in the family. Prenatal history has been normal. In order to find the genetic background, DNA was extracted from patient's peripheral blood lymphocytes. PKHD1 gene exons and exon-intron boundaries were sequenced using next generation sequencing platform. Two novel variants have been detected in compound heterozygote state in the patient (c.6591C>A, c.8222C>A). Bioinformatics tools predicted these variants to be pathogenic.
Conclusion: In the present study, we detected two novel variants in PKHD1 gene in a patient with ARPCKD. The relatively mild phenotype of this patient is in accordance with the missense mutations found. Molecular genetic tools can help in accurate risk assessment as well as precise genotype-phenotype correlation establishment in families affected with such disorder to decrease the birth of affected individuals through preimplantation genetic diagnosis or better management of disorder