Choledochal Cysts

Choledochal cysts are congenital dilatations of the intra- and extrahepatic biliary tract that cause various pancreatic and hepatobiliary disorders. Pancreaticobiliary maljunction (PBM) results in choledochal cysts. PBM is a congenital pancreatic and bile duct juncture anomaly. It is widely accepted that the clinical presence of PBM is an etiological factor in the pathogenesis of biliary carcinogenesis in patients with choledochal cysts. For definitive diagnosis, ultrasonography sometimes shows the relationship with the biliary tract. If USG findings cannot rule out other causes, ideally MRI should be performed together with MRCP. CT may be the initial test for undiagnosed common bile duct malformations. In rare cases where conventional imaging results are uncertain, nuclear hepatobiliary iminodiacetic acid (HIDA) scanning enables the evaluation of radiological trace of involvement and accumulation in cystic structures associated with the biliary system. Todani added five anomalies and organized the most commonly used classification system. There are five subtypes. A type I cyst, A choledochal diverticulum (Todani type II), Choledochoceles (Todani type III), type IV cyst, Caroli disease (Todani type V). Surgical treatment should be based on the extent of biliary involvement based on the widely used Todani classification and anatomical findings and the presence or absence of PBM. The standard treatment in most CCs is the resection of the bile duct up to the lobar bifurcation. Residual postoperative intrapancreatic choledochal cyst may also lead to secondary carcinogenesis and associated morbidity. The localization of the pancreatic cyst is inside the head of the pancreas, close to the neck and to the left of the bile duct. Surgical treatment options include laparoscopic treatment. Its main advantages include excellent visualization and low blood loss

Imaging of subsurface lineaments in the southwestern part of the Thrace Basin from gravity data

Linear anomalies, as an indicator of the structural features of some geological bodies, are very important for the interpretation of gravity and magnetic data. In this study, an image processing technique known as the Hough transform (HT) algorithm is described for determining invisible boundaries and extensions in gravity anomaly maps. The Hough function implements the Hough transform used to extract straight lines or circles within two-dimensional potential field images. It is defined as image and Hough space. In the Hough domain, this function transforms each nonzero point in the parameter domain to a sinusoid. In the image space, each point in the Hough space is transformed to a straight line or circle. Lineaments are depicted from these straight lines which are transformed in the image domain. An application of the Hough transform to the Bouguer anomaly map of the southwestern part of the Thrace Basin, NW Turkey, shows the effectiveness of the proposed approach. Based on geological data and gravity data, the structural features in the southwestern part of the Thrace Basin are investigated by applying the proposed approach and the Blakely and Simpson method. Lineaments identified by these approaches are generally in good accordance with previously-mapped surface faults

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

© 2020 Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular findings of 20 distinct FA cases, ages ranging from perinatal stage to 32 years, are presented here. Pathogenic variants in FANCA were found responsible in 75%, FANCC, FANCE, FANCJ/BRIP1, FANCL in 5%, and FANCD1/BRCA2 and FANCN/PALB2 in 2.5% of the subjects. Altogether, 25 different variants in 7 different FA genes, including 10 novel mutations in FANCA, FANCN/PALB2, FANCE, and FANCJ/BRIP1, were disclosed. Two compound heterozygous germline cases were mosaic for one allele, revealing that the incidence of reverse mutations may not be uncommon in FA. Another case with de novo FANCD1/BRCA2 and paternally inherited FANCN/PALB2 pathogenic alleles at first glance suggested a digenic inheritance, because the presence of a second pathogenic variant in the unexamined regions of FANCD1/BRCA2 and FANCN/PALB2 were exluded by sequencing and deletion/duplication analysis. A better understanding of the complexity of the FA genotype may provide further access to undiscovered ICL components and apparently dispensable cellular pathways where FA proteins may play important roles

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.

© 2020 Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular findings of 20 distinct FA cases, ages ranging from perinatal stage to 32 years, are presented here. Pathogenic variants in FANCA were found responsible in 75%, FANCC, FANCE, FANCJ/BRIP1, FANCL in 5%, and FANCD1/BRCA2 and FANCN/PALB2 in 2.5% of the subjects. Altogether, 25 different variants in 7 different FA genes, including 10 novel mutations in FANCA, FANCN/PALB2, FANCE, and FANCJ/BRIP1, were disclosed. Two compound heterozygous germline cases were mosaic for one allele, revealing that the incidence of reverse mutations may not be uncommon in FA. Another case with de novo FANCD1/BRCA2 and paternally inherited FANCN/PALB2 pathogenic alleles at first glance suggested a digenic inheritance, because the presence of a second pathogenic variant in the unexamined regions of FANCD1/BRCA2 and FANCN/PALB2 were exluded by sequencing and deletion/duplication analysis. A better understanding of the complexity of the FA genotype may provide further access to undiscovered ICL components and apparently dispensable cellular pathways where FA proteins may play important roles

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of RUNX2 revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423 + 2delT, c.443_454delTACCAGATGGGAinsG, c.505C > T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G > A, c.1088G > T, c.1281delC, Exon 6-9 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1-driven long isoform of RUNX2, which is expected to disrupt the N-terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra-familial genotype-phenotype correlation in our CCD cohort