New insights into potocki-shaffer syndrome: Report of two novel cases and literature review

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only. Among the latter, we describe a novel male child showing developmental delay, café-au-lait spots, liner postnatal overgrowth and West-like epileptic encephalopathy. We suggest PSS cases may have epileptic spasms early in life, and PHF21A is likely to be the causative gene. Given their subtle presentation these may be overlooked and if left untreated could lead to a severe type or deterioration in the developmental plateau. If our hypothesis is correct, a timely therapy may ameliorate PSS phenotype and improve patients’ outcomes. Our analysis also shows PHF21A is a candidate for the overgrowth phenotype

Immunoblastic morphology as a possible prognostic indicator for the outcome of the patients with diffuse large B cell lymphoma in era of the rituximab based treatment: single centre experience

Recently the results from one large prospective study indicated that immunoblastic morphology and not immunohistohemical features predict the outcome of the Diffuse large B lymphoma (DLBL). In order to investigate the prediction value of the immunoblastic morphology (IB) as a possible prognostic indicator for the outcome of our DLBL patient treated with the Rituximab (R)-CHOP regimen we conducted a retrospective study. Our study enrolled 192 DLBL patients diagnosed and treated at the University Clinic of Hematology in the period between February 2002 and December 2007. They were all treated with R-CHOP regimen and the median follow-up of the patient was 36 months. We analyzed the biopsy samples immunohistochemically for markers of germinal center (BCL6), post-germinal center (MUM1) and apoptosis (BCL2).The patients were categorized as DLBL(132; 68.7%), IB(60; 31.2). The median overall survival time (OS) were 59.3 months in DLBL group and 42.2 months in IB group, and time to treatment (TT) were 56.8 and 30.6 months respectively for the IB group. The DLBL and IB groups were comparable regarding the age, gender distributions and all others already established prognostic parameters as performance status, advanced IPI, albumin level except for the low IPI 0-2 which was statistically associated with the DLBL group (p=.024). Our results did not show any statistical survival advantage and better outcome for the patient classified as DLBL when treated with R-CHOP and indicate that immunohistohemical markers do not really reflect the molecular diversity of the tumor.  Our work shows that IB morphology is a major risk factor in DLBL patients treated with R-CHOP. Therefore this morphology appears to capture some adverse molecular events that a currently hard to detect with routine diagnostic procedures.

Радиолошка и имиџинг дијагностика на тумори на орбита

Туморите во орбитата може да потекнуваат од неколку различни структури на орбитата како што се: очниот булбус, мускулатурата, оптичкиот нерв и орбиталните кранијални нерви, крвни садови и друго

Diagnostic capabilities of the virtual bronchoscopy at advanced neoplastic process of esophagus with formation of tracheobronchial fistula: Description of a case

The relevance of the problem is related to the continued increase in the neoplastic processes, and at the same time also to the development and improvement of the endoscopic and CT equipment, and thus expanding the diagnostic capabilities. Purpose: The presented research examines the results of the study of a rare case of ruptured trachea as a result of cancer of the esophagus. Methods: Fiberoptic esophagoscopy (FOE) and CT of the chest followed by virtual bronchoscopy on a patient with a ruptured trachea, a 63 year-old man, were performed. Result: Performing MDCT with virtual bronchoscopy, according to this study, is crucial as the sole and complex methodology for the described case in connection with the finding of the trachea-oesophageal fistula and evaluation of the mediastinum and the pulmonary parenchyma. Conclusion: The VB is a successful method equally effective compared to the FB, to diagnose of advanced neoplastic processes

Multidetector computed tomography approach to the diagnosis of a foreign body

Introduction: The introduction of a foreign body in the respiratory tract is a serious global problem requiring urgent medical assistance. Purpose: The aim of the study is to assess the applicability of the Virtual bronchoscopy with MDCT for patients (adults and children) with suspected foreign body. Methods: To all 9 patients Virtual bronchoscopy and Fiberoptic bronchoscopy were carried out. The studies were carried out with an optimized protocol. In order to compare the results of FB and VB the sensitivity and precision indicators were determined. Results: When comparing the results of the study of patients with suspected foreign body, both methods established 4 positive results each (44.45%). Conclusions: VB is particularly reliable and suitable for children and adults with poor general condition. The results of VB with MDCT could be used for early diagnosis of suspected foreign bodies

Virtual bronchoscopy, importance of the method, application and prospects for tumors of the trachea and bronchi

Virtual bronchoscopy (VB) is 3-dimensional computer-generated technology, creating endobronchial images from spiral CT data. The study aims to present summarized results from researches of different foreign authors about the advantages of VB, the possibilities for its application and the effectiveness of its use in routine practice in the diagnosis of tumors of the trachea and bronchi. The three-dimensional model of the tracheobronchial tree allows assessment of the airways from inside. The majority of the examined studies relate to the diagnosis of new formations of the respiratory tract, preparation for surgery, assessment of the results of surgery, etc. VB is a noninvasive method allowing to examine the smallest bronchi. Relatively few studies in Bulgaria as well as the ensured during recent years new modern equipment for VB and MDCT, provide great opportunities for making VB examinations to study the effectiveness and its wide application in daily X-ray practice

Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience

The identification of the JAK2V617F mutation in several distinct myeloproliferative neoplasms (MPNs) raised the question how one single mutation incites expression of at least three different clinical phenotypes, i.e., polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In order to further evaluate already published data on the correlation between mutant JAK2V617F allele burden and specific hematological and clinical parameters, we tested the level of the JAK2 mutation in 134 JAK2+ patients with different MPNs. The patients were diagnosed according to the 2008 WHO criteria and followed for a median of 48 months. The JAK2 V617F quantification was done with a real time polymerase chain reaction (real time-PCR) method. The median allele burden was lowest in ET (25.8%), followed by 34.6% in PV and 51.8% in PMF patients (p50.0% compared to those with a mutational load of <10.0%. There were no statistically significant associations between the allele burden and blood counts in the ET cohort. Our study confirmed an association between the JAK2V617F allele burden and the distinct MPN phenotypes, indicating unfavorable prognosis in patients with a higher JAK2 allele burden. Our results suggest that JAK2 quantification should be incorporated in the diagnostic work-up of MPN patients as a useful tool for optimal treatment decision