Advanced alveolar echinococcosis disease associated with Budd–Chiari syndrome

AbstractIntroductionAlveolar echinococceal disease of the liver is rare. Echinococcus multilocularis is responsible for the development of the related clinical conditions. Advanced disease may result with serious complications such as end stage liver disease and Budd–Chiari syndrome.Presentation of caseIn this presentation, a 28 years-old woman who was a case with advanced alveolar echinococcosis complicated with a Budd–Chiari syndrome and was performed successful living donor liver transplantation, has been demonstrated with clinical and radiological images.DiscussionInitially there may be no clinical evidence of the disease in humans for years. Severity and fatality are the significant characteristics of the natural history. Extension to the surrounding tissues and metastasis of the parasitic mass may be observed. Prevention is essential in disease control. Serologic assay may identify the parasite. However, early diagnosis is rare. Staging is based on radiologic imaging. Some patients with advanced disease may require surgery. Hepatic resection and liver transplantation are accepted procedures in selected patients.ConclusionThe importance of early diagnosis to prevent advanced complications such as development of Budd–Chiari syndrome and metastasis has been underlined

Relationship Between Characteristics of Stenotic Plaque in Carotid Artery and Ischemic Stroke Recurrence

OBJECTIVE: Quantification of stenosis, plaque morphology and surface characteristics by doppler sonography and prediction of plaque rupture risk are important for treatment options in ischemic stroke. OBJECTIVE: We evaluated the association of carotid plaque characteristics and the risk of recurrent ischemic stroke. METHODS: Carotid plaques were ultrasonographically evaluated within ten days in 79 acute anterior circulation ischemic stroke patients without source of cardiac emboli. The subsequent incidence of transient ischemic attack, minor and major stroke was investigated wtihin six months period. During follow-up, 20 strokes occurred. Logistic regression analysis was used to determine the relation between plaque morphology and recurrent stroke risk. RESULTS: Patients with an ulcerated plaque had an 8.7-fold higher risk of recurrent stroke than those without ulceration (p<0.001). Patients with a hypoechogenic plaque had a 1.78-fold higher risk of recurrent stroke than those with hyperechogenic plaque (p<0.001). Patients with a functional stenosis greater than 70% had a 5.25-fold higher risk of recurrent stroke than those with a functional stenosis lesser than 70% (p<0.001). CONCLUSION: Plaque ulceration, hypoechogenicity and increased stenosis are independently associated with a higher risk of stroke recurrenc

Paraoxonase/arylesterase ratio, PON1 192Q/R polymorphism and PON1 status are associated with increased risk of ischernic stroke

Objectives: In recent years, importance of enzyme activity measurements, in addition to genotyping, in epidemiological studies relating paraoxonase 1 (PON1) and vascular disease was emphasized. This is the first report evaluating paraoxonase and arylesterase activities as risk factors for ischemic stroke. In addition, PON1 192Gln(Q)/Arg(R) and 55Leu(L)/Met(M) polymorphisms were also analyzed

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Overgrowth-intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long-term follow-up findings of Turkish OGID cohort. Thirty-five children with OGID were included in the study. Single gene sequencing, clinical exome analysis, chromosomal microarray analysis and whole exome sequencing were performed. Five pathogenic copy number variants were detected in the patients; three of them located on chromosome 5q35.2 (encompassing NSD1), others on 9q22.3 and 22q13.31. In 19 of 35 patients; we identified pathogenic variants in OGID genes associated with epigenetic regulation, NSD1 (n = 15), HIST1H1E (n = 1), SETD1B (n = 1), and SUZ12 (n = 2). The pathogenic variants in PIK3CA (n = 2), ABCC9 (n = 1), GPC4 (n = 2), FIBP (n = 1), and TMEM94 (n = 1) which had a role in other growth pathways were detected in seven patients. The diagnostic yield was 31/35(88%). Twelve pathogenic variants were novel. The common facial feature of the patients was prominent forehead. The patients with Sotos syndrome were observed to have milder intellectual disability than patients with other OGID syndromes. In conclusion, this study showed, for the first time, that biallelic variants of SUZ12 caused Imagawa-Matsumoto syndrome, monoallelic variants in SETDIB resulted in OGID. Besides expanded the phenotypes of very rare OGID syndromes caused by FIBP and TMEM94