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Open reduction of a total talar dislocation: A case report and review of the literature
No full textAkman, Yunus Emre/0000-0003-2939-0519; yapici, furkan/0000-0002-5349-4580WOS: 000477763300012PubMed: 31417931BACKGROUND Total talar dislocation (TTD) is very uncommon for many orthopedic surgeons and emergency/ trauma specialists. Scarce cases of TTD have been reported, mainly in the form of open fracture-dislocation injury. CASE SUMMARY We report a very rare injury of closed TTD with a follow-up period of 36 mo. Initial dosed reduction was not successful because of a fractured highly unstable medial malleolus displaced into the ankle mortise, blocking the relocation of the talus. the patient was able to walk pain-free after the 3rd month of surgery. At the 36-mo follow-up, there were 10 degrees of flexion loss and 10 degrees of extension loss in the tibiotalar joint. Furthermore, 5 degrees of subtalar joint inversion-eversion loss was present. CONCLUSION Open reduction should be performed for dosed TTDs unless dosed reduction is successful
THE ASSESSMENT OF RENAL TRANSPLANT PATIENTS REGARDING MICRO-ELIMINATION OF CHRONIC VIRAL HEPATITISES IN TURKEY: AN ANALYSIS OF 2410 PATIENTS
No full textWOS: 000491488703132[No abstract available
Hot hydrodissection in a case of redo liver transplantation surgical video presentation
No full text25th Annual International Congress of the International-Liver-Transplantation-Society (ILTS) -- MAY 15-18, 2019 -- Toronto, CANADAWOS: 000494805000868[No abstract available]Int Liver Transplantat So
Evaluation of relationships between clinical and radiological characteristics and tumor markers in hepatocellular carcinoma
No full textAim: The aim of this study was to evaluate AFP, CEA and CA 19-9 levels in patients with HCC and non-HCC cirrhosis, and also toinvestigate the relationship between tumor radiological and clinical characteristics and these markers.Material and Methods: 572 patients with cirrhosis who were followed for cirrhosis between January 2010 and January 2019 in thegastroenterology outpatient clinic of Demiroglu Bilim University Faculty of Medicine were included in the study. Demographic (age,gender, BMI), laboratory (AFP, CEA, CA 19-9) and imaging findings of the cases were retrospectively screened and recorded. Thepatients were divided into two main groups as HCC and without HCC.Results: In the study, 252 patients were HCC and 320 patients were non-HCC. AFP values and male gender ratio were higher in HCCgroup, whereas CEA and CA 19-9 values were similar between the two groups. (respectively, p <0.001; p <0.013; p=0.157; p=0.294). Asignificant positive correlation was found between tumor size and AFP levels, but no correlation was found between CEA and CA 19-9and tumor sizes. (for AFP r=0.202, p <0.001). CEA level was significantly higher in patients with macrovascular invasion (p =0.011).Conclusion: In our study, positive correlation was found between tumor size and AFP levels in patients with HCC, and a significantcorrelation was found between CEA and macrovascular invasion. Our study showed that AFP and CEA are valuable markers that canbe used to determine prognosis and survival in HCC patients
Neuromyelitis optica spectrum disorders: The evaluation of 66 patients followed by Istanbul Bilim University, Department of Neurology
No full text71st Annual Meeting of the American-Academy-of-Neurology (AAN) -- MAY 04-10, 2019 -- Philadelphia, PAWOS: 000475965900116…Amer Acad Neuro
Ossicular chain erosion in chronic otitis media patients with cholesteatoma or granulation tissue or without those: analysis of 915 cases
No full textWOS: 000464861500006PubMed ID: 30759279Purpose The aim of this study was to evaluate the ossicular chain erosions (OCE) in chronic otitis media patients with cholesteatoma (COM-C) or without cholesteatoma (COM). Materials and methods The OCE and preoperative hearing levels of a total of 915 patients were evaluated retrospectively. Patients were divided into three groups. Of the 915 patients, 615 (67.2%) had COM, 234 (25.6%) had COM-C, and 66 (7.2%) had chronic otitis media with granulation tissue (COM-G). Results OCE was found in 291 (31.8%) of 915 patients. OCE was found in 192 (82%) of 234 patients with COM-C, 21 (31.8%) of 66 patients with COM-G, and 78 (12.7%) of 615 patients with COM. Conclusion The most commonly seen OCE was incus erosion, followed by stapes and malleus erosions. The results of this study show that there are more OCE in the COM-C group than in the COM-G and COM groups. To our knowledge, this study has the widest patient population in the literature focused on the OCE relation with COM, COM-C, and COM-G and its effect on the preoperative hearing level
Fabry Disease Prevalence in Renal Replacement Therapy in Turkey
No full textWOS: 000467679300004PubMed ID: 30739116Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, Base
Novel Application of Internal-External Drainage Catheter as Biliary Stent for Percutaneous Transhepatic Treatment of Biliary Strictures in Living Donor Liver Transplantation Recipient Patients
No full textObjectives: Although endoscopic management is considered as the first-line treatment for biliary strictures, it may be challenging in living donor liver transplant recipients due to the complex nature of duct-to-duct reconstruction. In this study we present the use of a pigtail drainage catheter as a biliary stent to treat biliary strictures after a living donor liver transplant. Methods: Twenty-seven patients with biliary strictures were treated with our novel technique. In this technique, a pigtail catheter was trimmed into 3 parts (proximal, middle, and distal portions). A suture string was passed through the distal hole of the middle portion, which was then reversed and used as a stent while the proximal portion was used as a pusher. Following balloon dilation of the stenotic segment, the distal, reversed middle, and proximal portions were loaded over the guidewire. After proper placement of the stent, the retractor suture string, pusher, and guidewire were removed. The stent was removed during the third or fourth month of placement through endoscopic retrograde cholangiopancreatography (ERCP) in all patients. Results: No significant complications developed during the procedure or follow-up period. Ten patients required re-stenting by ERCP during the same session. The mean follow-up period was 2 years. Cholestase enzymes and bilirubin levels were within normal limits in all patients during follow-up. Conclusion: Stents derived from drainage catheter facilitate treatment of biliary strictures in patients not eligible for the retrograde approach. This stent is cheap, easy to implement, can be easily removed by ERCP, and re-stenting can be applicable in retrograde if needed. © 2019 Elsevier Inc
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
No full textWOS: 000467761600008PubMed ID: 30487245Background Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. Objective A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. Results We identified four homozygous MAB21L1 loss of function variants (p. Glu281fs* 20, p. Arg287Glufs* 14 p. Tyr280* and p. Ser93Serfs* 48) and one missense variant (p. Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/ scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. Conclusion T his report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis.Simons Foundation for Autism Research [514863]; National Institutes of Health [R01NS048453, U54HG003067, U54HG006504]; Rady Children's Institute for Genomic Medicine; Radboudumc; RIMLS Nijmegen (Hypatia tenure track fellowship); 'Deutsche Forschungsgemeinschaft' (DFG) [CRC1140]; European Research Council (ERC StG TREATCilia) [716344]; ERAnet consortium, CRANIRARE2 [TUBITAK SBAG -112S398]; Yale Center for Mendelian Disorders [U54HG006504]; Gregory M. Kiez and Mehmet Kutman FoundationThis work was supported by grants from the Simons Foundation for Autism Research #: 514863 National Institutes of Health R01NS048453 (to JGG), U54HG003067 to the Broad Institute and U54HG006504 to the Yale Center for Mendelian Disorders. JGG received support from Rady Children's Institute for Genomic Medicine. MS acknowledges funding from Radboudumc and RIMLS Nijmegen (Hypatia tenure track fellowship), the 'Deutsche Forschungsgemeinschaft' (DFG, CRC1140 (KIDGEM)) and the European Research Council (ERC StG TREATCilia, grant No. 716344). HK acknowledges funding from ERAnet consortium, CRANIRARE2 (TUBITAK SBAG -112S398), Yale Center for Mendelian Disorders (U54HG006504 to MG) and the Gregory M. Kiez and Mehmet Kutman Foundation (MG)
