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Anti-mullerian hormone (AMH) levels and antral follicle counts (AFC) may predict ovarian reserves before systemic chemotherapy (SC) in women with breast cancer (BC): A prospective clinical study
No full text44th Congress of the European-Society-for-Medical-Oncology (ESMO) -- SEP 27-OCT 01, 2019 -- Barcelona, SPAINucuncu, Muhammed zubeyr/0000-0003-4638-1059;WOS: 000491295501072[No abstract available]European Soc Med Oncol, Japanese Soc Med Onco
How Safe is the Use of Intrathecal Fluorescein? An Experimental Study
No full textWOS: 000473763100013PubMed ID: 30806476AIM: To investigate the effects of fluorescein-sodium on neural tissues. MATERIAL and METHODS: Twenty-one Wistar rats were randomly divided into three experimental groups: control (group 1) and fluorescein-sodium groups with different doses (groups 2 and 3). In the control group, craniectomy following with durotomy was performed with the help of a loupe microscope, and a dry sponge was overlayed to the brain tissue. In the study groups, the open dura was covered with a sponge soaked with 0.02 mg (group 2) and with 0.2 mg (group 3) fluorescein sodium following craniectomy. Three weeks postoperatively, rats were sacrificed for the histopathologic evaluations. RESULTS: Fluorescein-induced apoptosis occurs in a dose-dependent manner in rats' neurons. It was determined that neuron and neuroglial cell TUNEL staining was statistically different among the three groups (p<0.001). Our results indicated that fluorescein induces apoptosis, resulting in increased nuclear factor kappa beta (NF-kappa beta) expression in a dose-dependent manner. CONCLUSION: Fluorescein sodium is used frequently during surgery for CSF fistulas. However, information in the literature about its safety is insufficient. Our study holds promise for the development of new studies on the reliability of this agent
Cerebral microbleeds and stroke risk after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies
No full textPubMed ID: 31130428Background: Cerebral microbleeds are a neuroimaging biomarker of stroke risk. A crucial clinical question is whether cerebral microbleeds indicate patients with recent ischaemic stroke or transient ischaemic attack in whom the rate of future intracranial haemorrhage is likely to exceed that of recurrent ischaemic stroke when treated with antithrombotic drugs. We therefore aimed to establish whether a large burden of cerebral microbleeds or particular anatomical patterns of cerebral microbleeds can identify ischaemic stroke or transient ischaemic attack patients at higher absolute risk of intracranial haemorrhage than ischaemic stroke. Methods: We did a pooled analysis of individual patient data from cohort studies in adults with recent ischaemic stroke or transient ischaemic attack. Cohorts were eligible for inclusion if they prospectively recruited adult participants with ischaemic stroke or transient ischaemic attack; included at least 50 participants; collected data on stroke events over at least 3 months follow-up; used an appropriate MRI sequence that is sensitive to magnetic susceptibility; and documented the number and anatomical distribution of cerebral microbleeds reliably using consensus criteria and validated scales. Our prespecified primary outcomes were a composite of any symptomatic intracranial haemorrhage or ischaemic stroke, symptomatic intracranial haemorrhage, and symptomatic ischaemic stroke. We registered this study with the PROSPERO international prospective register of systematic reviews, number CRD42016036602. Findings: Between Jan 1, 1996, and Dec 1, 2018, we identified 344 studies. After exclusions for ineligibility or declined requests for inclusion, 20 322 patients from 38 cohorts (over 35 225 patient-years of follow-up; median 1·34 years [IQR 0·19–2·44]) were included in our analyses. The adjusted hazard ratio [aHR] comparing patients with cerebral microbleeds to those without was 1·35 (95% CI 1·20–1·50) for the composite outcome of intracranial haemorrhage and ischaemic stroke; 2·45 (1·82–3·29) for intracranial haemorrhage and 1·23 (1·08–1·40) for ischaemic stroke. The aHR increased with increasing cerebral microbleed burden for intracranial haemorrhage but this effect was less marked for ischaemic stroke (for five or more cerebral microbleeds, aHR 4·55 [95% CI 3·08–6·72] for intracranial haemorrhage vs 1·47 [1·19–1·80] for ischaemic stroke; for ten or more cerebral microbleeds, aHR 5·52 [3·36–9·05] vs 1·43 [1·07–1·91]; and for ?20 cerebral microbleeds, aHR 8·61 [4·69–15·81] vs 1·86 [1·23–1·82]). However, irrespective of cerebral microbleed anatomical distribution or burden, the rate of ischaemic stroke exceeded that of intracranial haemorrhage (for ten or more cerebral microbleeds, 64 ischaemic strokes [95% CI 48–84] per 1000 patient-years vs 27 intracranial haemorrhages [17–41] per 1000 patient-years; and for ?20 cerebral microbleeds, 73 ischaemic strokes [46–108] per 1000 patient-years vs 39 intracranial haemorrhages [21–67] per 1000 patient-years). Interpretation: In patients with recent ischaemic stroke or transient ischaemic attack, cerebral microbleeds are associated with a greater relative hazard (aHR) for subsequent intracranial haemorrhage than for ischaemic stroke, but the absolute risk of ischaemic stroke is higher than that of intracranial haemorrhage, regardless of cerebral microbleed presence, antomical distribution, or burden. Funding: British Heart Foundation and UK Stroke Association. © 2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND 4.0 licenseDaiichi-Sankyo Bristol-Myers Squibb: BMS Wellcome Trust British Heart Foundation Mrs Gladys Row Fogo Charitable Trust Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung American Federation for Aging Research Ministry of Health, Labour and Welfare Federación Española de Enfermedades Raras University College Dublin 2001B071 Pfizer UK Chest Heart and Stroke Scotland Japan Agency for Medical Research and Development Servier Daiichi-Sankyo ZonMw ANR-16-RHUS-004 Chest Heart and Stroke Scotland Ministry of Health Israel Science Foundation Canadian Institutes of Health Research Center for Translational Molecular Medicine NIHR Imperial Biomedical Research Centre Schweizerische Herzstiftung Bayer Fondation Leducq Stroke Association National Institutes of Health Medical Research Council National Institute for Health Research Japan Agency for Medical Research and Development Bayer National Institute for Health Research Health and Medical Research Fund NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research Instituto de Salud Carlos III: FI12/00296 National Institute for Health Research Hartstichting NIHR Imperial Biomedical Research Centre Canadian Institutes of Health ResearchOur large-scale pooled analysis of individual patient data confirms that, in patients with recent ischaemic stroke or transient ischaemic attack treated with antithrombotic drugs, cerebral microbleeds are associated with the subsequent risks of symptomatic intracranial haemorrhage and ischaemic stroke; as cerebral microbleed burden increases, the relative risk (aHR) of intracranial haemorrhage rises more steeply than that of ischaemic stroke. Our most important new finding is that, regardless of cerebral microbleed burden and distribution (ie, mixed, deep, or lobar), or the type of antithrombotic treatment received (oral anticoagulants or antiplatelet therapy), the absolute risk of ischaemic stroke is consistently substantially higher than that of intracranial haemorrhage. As well as confirming the association between cerebral microbleeds and both recurrent ischaemic stroke and symptomatic intracranial haemorrhage found in smaller cohorts of patients with ischaemic stroke and transient ischaemic attack treated with antiplatelet drugs 28 or oral anticoagulants, 27,57,35 the large number of participants has improved the precision of our estimates of stroke recurrence rates and relative hazards, while the inclusion of individual patient data allowed adjustment for potential confounding factors. Our study also adds new data for the important subgroups of patients with many (eg, ?20) cerebral microbleeds, which cause the most clinical concern and could not be addressed by any of the previously published meta-analyses. The association of cerebral microbleeds with a consistently higher rate of ischaemic stroke than intracranial haemorrhage suggests that cerebral microbleeds are a marker for cerebral small vessel diseases that can cause not only intracranial haemorrhage, but also ischaemic stroke. Although it has been inferred that cerebral microbleeds are a marker of direct extravasation of red blood cells from arterioles and capillaries damaged by bleeding-prone arteriopathies, alternative non-haemorrhagic mechanisms include ischaemia-mediated iron store release by oligodendrocytes 10 or phagocytosis of red cell microemboli into the perivascular space. 11 A report of haemorrhagic transformation of small acute microinfarcts into cerebral microbleeds provides direct evidence that cerebral microbleeds can result from ischaemic mechanisms. 13 These varied mechanisms underlying cerebral microbleeds might explain why even patients at the highest risk of intracranial haemorrhage still have a higher absolute risk of ischaemic stroke. Moreover, patients with cerebral microbleeds often have multiple vascular risk factors, so are at risk of not only small vessel ischaemic stroke but also other ischaemic stroke subtypes. 58 Patients with cerebral microbleeds usually also have white matter hyperintensities, which are associated with the risk of recurrent stroke, death, and poor functional outcome after ischaemic stroke 59 and might also contribute to the increased risk of ischaemic stroke associated with cerebral microbleeds. We found no evidence that a strictly lobar pattern of cerebral microbleeds (fulfilling the Boston criteria for probable CAA, 5 causing clinical concern for intracranial bleeding risk 35 ) is associated with the risk of intracranial haemorrhage or ischaemic stroke. These findings might reflect low diagnostic accuracy when using cerebral microbleeds for diagnosis of CAA in patients without intracerebral haemorrhage or dementia, 60 rather than a true absence of any association of CAA with intracranial haemorrhage. Furthermore, the aHRs for intracranial haemorrhage associated with lobar cerebral microbleeds (compared with patients without lobar cerebral microbleeds [including none]) were closer to those associated with deep or mixed cerebral microbleeds (compared with patients without deep or mixed cerebral microbleeds [including none]). Our results differ from some previous observations in smaller cohorts. First, in contrast to a smaller two-centre study, 29 we did not find that the risk of intracranial haemorrhage approached the risk of ischaemic stroke after 1 year. Rather, we found that the rate of ischaemic stroke was consistently higher than that of intracranial haemorrhage, and the aHRs associated with cerebral microbleeds for both ischaemic stroke and intracranial haemorrhage remained stable over time. Second, our data indicate a smaller increase in the relative risk of intracranial haemorrhage for patients with five or more cerebral microbleeds than reported in a previous smaller meta-analysis, 28 but our much larger individual participant sample size allowed us to investigate high cerebral microbleed burdens (five or more, ten or more, and 20 or more) with adjustment for confounders and greater statistical precision and power. The comparatively low frequency of symptomatic intracranial haemorrhage after ischaemic stroke or transient ischaemic attack and the consistently higher risk of recurrent ischaemic stroke make randomised controlled trials of antithrombotic treatment (themselves proven in large randomised trials) guided by cerebral microbleeds challenging. However, ongoing and future randomised controlled trials should provide further insights. The MRI substudy in the RESTART trial 61 of antiplatelet therapy after intracerebral haemorrhage excluded all but a very modest harmful effect of antiplatelet therapy on recurrent intracerebral haemorrhage in the presence of cerebral microbleeds, but also illustrates how very large sample sizes are probably required to identify statistically significant interactions in smaller cerebral microbleed subgroups in current (eg, the MRI substudy of NAVIGATE ESUS [ NCT02313909 ]) and future randomised controlled trials. Nevertheless, our large collaborative pooled analysis provides the best available evidence on the associations of cerebral microbleeds with subsequent intracranial haemorrhage and ischaemic stroke after ischaemic stroke or transient ischaemic attack. We included data from a worldwide collaborative network, making our results globally generalisable. The large individual patient dataset provides high statistical power and precision for risk estimates, allowing us to explore associations with several clinically important primary outcomes, while adjusting for important prognostic variables to minimise confounding. Included cohorts used validated rating instruments for cerebral microbleeds, and we adjusted for the use of different MRI sequences (T2* GRE or SWI) to detect cerebral microbleeds, which accounts for the higher sensitivity of SWI for detecting cerebral microbleeds compared with T2* GRE. 62 We followed a published statistical analysis plan and confirmed our findings in a two-stage meta-analysis, indicating the robustness of our results. In terms of limitations, our observational design has potential for selection bias and confounding of antithrombotic therapy by indication or unmeasured physician factors; thus, the relative hazards (aHRs) for intracranial haemorrhage and ischaemic stroke must be interpreted with caution. To definitively establish whether cerebral microbleeds modify the net clinical benefit of antithrombotic drugs would require a randomised controlled trial. Many of the included studies did not formally adjudicate events. The requirement for MRI-suitable patients probably led to the inclusion of less severe strokes than an unselected population. Even with the many individual patients included, we could not precisely estimate risks associated with an extremely large number of cerebral microbleeds (eg, ?50), but such patients are very rare in clinical practice. Although we adjusted for known prognostic variables, residual confounding secondary to unknown or uncontrolled factors such as stroke mechanism could still have affected our results. Furthermore, we were unable to include some candidate variables in our multivariable models because they were not sufficiently widely available across all participating cohorts (eg, white matter hyperintensities, MRI field strength, diabetes, ischaemic heart disease, renal function, and statin use on discharge). Our analyses did not formally assess net clinical benefit, accounting for the greater severity of intracranial haemorrhage compared with recurrent ischaemic stroke. In summary, our large-scale pooled analysis in patients with recent ischaemic stroke or transient ischaemic attack found that the absolute risk of ischaemic stroke is consistently higher than that of intracranial haemorrhage, regardless of the number or anatomical distribution of cerebral microbleeds. However, cerebral microbleeds are associated with a greater relative hazard (aHR) for intracranial haemorrhage than ischaemic stroke; further studies are needed to establish the usefulness of neuroimaging biomarkers, including cerebral microbleeds, in improving risk prediction scores for intracranial haemorrhage and ischaemic stroke. Contributors DJWe, DW, GA, and JM-F drafted the initial protocol, which was reviewed with critical revisions and approval by all authors. DW and GA did the statistical analysis. DW, DJW, and GA wrote the first draft of the manuscript. All authors contributed to data acquisition, management, and brain imaging analyses. All authors contributed to critical revision of the manuscript and approved the final manuscript for submission. Declaration of interests MK reports grants from the Ministry of Health, Labour and Welfare, Japan, and from the National Cerebral and Cardiovascular Center during the conduct of the study; and speaker honoraria from Bayer Yakuhin, Daiichi-Sankyo Company, and Bristol-Myers Squibb (BMS)/Pfizer. HC reports participation in the steering committee for a clinical trial supported by Servier and was a consultant for Hovid Inc. EMA reports personal fees from Pfizer, Boehringer Ingelheim, Nutricia, Abbott, and Sanofi, outside the submitted work. JP reports personal fees from Boehringer Ingelheim and Akcea and personal fees and non-financial support from Pfizer outside the submitted work. EBA reports grants from US–Israel Bi-national Science Foundation, The American Federation for Aging Research, and The Israeli Chief Scientist, Ministry of Health, during the conduct of the study. SBC reports grants from the Canadian Institute of Health Research and a Pfizer Cardiovascular award during the conduct of the study. DJS reports other funding from Bayer and from BMS/Pfizer outside the submitted work. PL reports other funding from Daiichi-Sankyo, Bayer, and Boehringer Ingelheim, outside the submitted work. RA-SS reports grants from the British Heart Foundation, The Stroke Association, and Chest Heart & Stroke Scotland outside the submitted work. GYHL reports consultancy for Bayer/Janssen, BMS/Pfizer, Biotronik, Medtronic, Boehringer Ingelheim, Microlife, and Daiichi-Sankyo; and speaker honoraria from Bayer, BMS/Pfizer, Medtronic, Boehringer Ingelheim, Microlife, Roche, and Daiichi-Sankyo. HPM reports personal fees from Neuravi/Cerenovus, Medtronic, Bayer, Daiichi-Sankyo, and Servier outside the submitted work. DH reports grants from University College Dublin Newman Fellowship supported Bayer during the conduct of the study. MEK reports grants from the Center for Translational Molecular Medicine during the conduct of the study. AMT reports grants from the Dutch Heart Foundation during the conduct of the study. AvdL reports grants from the Center for Translation Molecular Medicine and Dutch Heart Foundation during the conduct of the study. JMW reports grants from Wellcome Trust, Chest Heart Stroke Scotland, and Row Fogo Charitable Trust during the conduct of the study. YS reports a grant from Health and Medical Research Fund. VIHK reports grants from the Netherlands Heart Foundation (grant 2001B071) during the conduct of the study. STE reports grants from Daiichi-Sankyo, Bayer, Pfizer, and Swiss Heart Foundation during the conduct of the study; other funding from Daiichi-Sankyo, Mindmaze, and Stago; and grants from the Swiss National Science Foundation outside the submitted work. NP reports other funding from Daiichi-Sankyo, Bayer, and Boehringer Ingelheim outside the submitted work. EES reports personal fees from Portola Pharmaceuticals and Alnylam Pharmaceuticals outside the submitted work. VT reports personal fees and non-financial support from Boehringer Ingelheim and personal fees from Bayer, Pfizer/BMS, and Amgen and Medtronic outside the submitted work. RV reports grants and personal fees from Bayer, Boehringer Ingelheim, BMS, Daiichi-Sankyo, and Medtronic; and personal fees from Morphosys and Amgen outside the submitted work. HA reports grants from National Institutes of Health during the conduct of the study. PMR reports personal fees from Bayer outside the submitted work. KT reports personal fees from Daiichi-Sankyo, Bayer Yakuhin, BMS, and Nippon Boehringer Ingelheim outside the submitted work. DJWe reports personal fees from Bayer outside the submitted work. All other authors declare no competing interests. Acknowledgments Funding for the included cohort studies was provided by the British Heart Foundation, Stroke Association, UCLH National Institute of Health Research (NIHR) Biomedical Research Centre, Wellcome Trust, Health Research Board Ireland, NIHR Biomedical Research Centre (Oxford, UK), Canadian Institutes of Health Research, Pfizer Cardiovascular Research award, Basel Stroke Funds, Science Funds Rehabilitation Felix-Platter-Hospital, Neurology Research Pool University Hospital Basel, Bayer AG, Fondo de Investigaciones Sanitarias Instituto de Salud Carlos III (FI12/00296; RETICS INVICTUS PLUS RD16/0019/0010; FEDER), Imperial College London NIHR Biomedical Research Centre, Dutch Heart Foundation, Servier, Association de Recherche en Neurologie Vasculaire and RHU TRT_cSVD (ANR-16-RHUS-004), Vidi innovational grant from The Netherlands ZonMw, Chest Heart Stroke Scotland, Medical Research Council, Fondation Leducq, The Row Fogo Charitable Trust, National Institute of Health (USA), Adriana van Rinsum-Ponsen Stichting, Japan Agency for Medical Research and Development (AMED), Ministry of Health, Labour and Welfare (Japan), and National Cerebral and Cardiovascular Center, Health and Medical Research Grant, Singapore National Medical Research Council, and Dutch Heart Foundation
Value of Imaging Findings in the Prediction of Microvascular Invasion in Hepatocellular Carcinoma
No full textBackground: The purpose of this study was to determine the utility of some imaging findings in predicting microvascular invasion (MVI) and hepatocellular carcinoma (HCC) recurrence risk after liver transplantation. Method: This retrospective study included 123 patients with histopathologically proven HCC at explant. All HCCs were classified as MVI positive (group I) or negative (group II) based on histopathological findings. In each group, multifocality, largest tumor size, bulging (tumor causing liver capsule expansion), beak sign (the acute angle between the tumor and liver parenchyma), and diffusion restriction on diffusion weighted images (DWI) were evaluated. These findings were compared between the groups by Student's t test. The relation between the parameters and MVI was analyzed by using the Spearman's correlation test. Results: Of the total patients, 30.1% had MVI (group I) and 69.9% (group II) did not have MVI. Presence of beak sign (P ? .005), bulging sign (P = .002), and diffusion restriction (P = .045) were significantly more frequent in group I than group II. The beak sign, bulging sign, and diffusion restriction were correlated with presence of MVI. Largest tumor size and multifocality were higher in group I than group II, but the differences were not statistically significant. Conclusion: Radiologists and transplant surgeons should be aware of some clue imaging findings, especially beak and bulging signs because these findings may predict the presence of MVI in HCC. These patients might benefit from histologic confirmation of the tumor characteristics through biopsy and subsequent bridging treatment options before liver transplantation to reduce the risk of recurrence. © 2019 Elsevier Inc
Effects of Fingolimod on Cytokine and Chemokine Levels in Patients with Multiple Sclerosis
No full text71st Annual Meeting of the American-Academy-of-Neurology (AAN) -- MAY 04-10, 2019 -- Philadelphia, PAWOS: 000475965903386…Amer Acad Neuro
Impact of Cytokine Adsorption Treatment in Liver Failure
No full textSepsis causes life-threatening organ dysfunction and is the leading cause of morbidity and mortality in critically ill patients worldwide. Mortality rate of sepsis is close to 30% to 50% despite better understanding of the pathophysiology of sepsis, and advances in antimicrobial therapy, resuscitation strategies, and mechanical ventilation. Liver failure is characterized by accumulation of potentially toxic substances in the systemic circulation of the patient. Toxic effects of these molecules can induce cellular injuries leading to multiorgan dysfunction. Hydrophobic unconjugated bilirubin and bile acids, hydrophilic conjugated bilirubin, and ammonium are the main toxins accumulated in liver failure. We carried out cytokine adsorbtion (CytoSorb) procedure with continuous venovenous hemodialysis in 12-hour sessions. The biochemical values of the patients before and after the use of the filter were recorded. The parameters compared were as follows: total bilirubin, direct bilirubin, C-reactive protein, leukocyte, neutrophil, alanine aminotransferase, aspartate aminotransferase, creatinine, colloid oncotic pressure, ammonia, gamma-glutamyl transferase, alkaline phosphatase, procalcitonin, hematocrit, hemoglobin, pH, albumin, international normalized ratio, fibrinogen, lactate dehydrogenase, platelet, temperature, changes in vasoactive medication requirement, temperature. According to these results, cytokine adsorption systems can be considered as an option to lower bilirubin levels in cases of liver failure. Its inability to lower ammonia level is considered a disadvantage compared with other bilirubin-lowering methods. Although further studies are needed to compare different methods, cytokine adsorption systems may be considered in treatment planning as it contributes to the treatment of sepsis and hyperbilirubinemia in liver failure patients with sepsis. © 2019 Elsevier Inc
Evaluation of Quality of Life and Health Care Needs in Cancer Patients Receiving Chemotherapy
No full textSymptoms are decisive in the quality of life of patients. Progression of the underlying disease leads to many physical and psychological symptoms in patients. Increases in these symptoms often prevent patients from complying with treatment. Therefore, the symptoms must be recognized, evaluated, and controlled for the treatment to be effective. This study determined the unmet needs of patients undergoing chemotherapy treatment and the effects of these needs on the patients’ quality of life. Four hundred fifty patients were studied. Data were collected using the Patient Information Form, the Nightingale Symptom Assessment Scale (N-HAQ), the Supportive Care Requirements Questionnaire (DBGÖ), and the FACT-G (v4) Quality of Life Scale. The areas in which patients needed the most support were pain, weakness/fatigue, bad feelings, sadness, mood swings, difficulty in doing home-related tasks, fear of the cancer spreading, inability to control the situation, worries about the future, fear of death, worries about upsetting relatives, and being in need of information regarding their sexual lives. The results showed that for patients who had higher support requirements, higher incidences of symptoms led to a reduced quality of life. Consequently, frequently evaluating these symptoms to meet the needs identified, frequently measuring the quality and efficiency of care and advising these patients on their needs is recommended. © 2019, American Association for Cancer Education
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
No full textWOS: 000458334600005PubMed ID: 30474613Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose arid elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in ATP6V0A2. Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. We aimed to identify the genetic and molecular cause of the unexpected hematological findings in a Turkish family. Materials and Methods: We performed clinical, genetic, and histological analyses of a consanguineous family afflicted with wrinkled and loose skin, microcephaly, intellectual disability, cleft lip and palate, downslanting palpebral fissures, ectopia lentis, bleeding diathesis, and defective wound healing. Results: Linkage analysis using SNP genotype data yielded a maximal multipoint logarithm of odds score of 2.59 at 12q24.21-24.32. Exome sequence analysis for the proband led to the identification of novel homozygous frameshift c.2085_2088del (p.(Ser695Argfs*12)) in ATP6V0A2, within the linked region, in the two affected siblings. Conclusion: Our patients do not have gross structural brain defects besides microcephaly, strabismus, myopia, and growth or developmental delay. Large platelets were observed in the patients and unusual electron-dense intracytoplasmic inclusions in fibroblasts and epidermal basal cells were observed in both affected and unaffected family members. The patients do not have any genetic defect in the VWF gene but von Willebrand factor activity to antigen ratios were low. Clinical findings of bleeding diathesis and defective wound healing have not been reported in ARCL2A and hence our findings expand the phenotypic spectrum of the disease.Scientific and Technological Research Council of Turkey [114Z829]This study was supported by the Scientific and Technological Research Council of Turkey (grant number 114Z829)
Importance of small hepatic vein drainage (<= 3 mm) to prevent small for size syndrome surgical video presentation
No full text25th Annual International Congress of the International-Liver-Transplantation-Society (ILTS) -- MAY 15-18, 2019 -- Toronto, CANADAWOS: 000494805000870[No abstract available]Int Liver Transplantat So