A rare occurrence of three consecutive autosomal trisomic pregnancies in a couple without offspring.

BACKGROUND: Trisomies are the most common chromosomal abnormalities, being a major cause of pregnancy loss in the first trimester. Data from preimplantation embryos support the concept of recurrent aneuploidy in women with recurrent abortion. CASE: The authors report a rare case with three different consecutive trisomic pregnancies: 47,XY,+21, 47,XX,+9, and 47,XX,+18. All pregnancies resulted from the same relationship and no consanguinity was present. Standard clinical cytogenetic analysis indicated that both members had normal peripheral blood karyotype, with no evidence of mosaicism in either patient or her partner. CONCLUSION: The present report sup- ports the hypothesis that some women have a higher risk for nondisjunction than others of the same age. Counseling a couple with re- current trisomies is difficult and future research on genetics of cell division are required to assist them.

Arsenic trioxide sensitizes cancer stem cells to chemoradiotherapy. A new approach in the treatment of inoperable glioblastoma multiforme.

PURPOSE: glioblastoma multiforme (GBM) still bears a very dismal prognosis even with complete resection followed by adjuvant chemoradiation. The aim of the current study was to evaluate in vitro the antitumor efficacy of arsenic trioxide (ATO) in combination with ionizing radiation plus temozolomide and bevacizumab against cultured glioblastoma stem-like cells, as possible way to increase the therapeutic index in patients diagnosed with recurrent, therapy-refractory GBM. METHODS: stem-like tumor cells isolated from a GBM biopsy were established by cell proliferation assays and upregulation of stem cell markers, as proven by reverse transcription - polymerase chain reaction (RT-PCR). Low concentrations of ATO were added prior to temozolomide, bevacizumab and ionizing irradiation. RESULTS: molecular analysis showed that cells expressed CXCR4, Oct-3/4 and GAPDH when compared to placental mesenchymal stem cells, as well as nestin, GFAP and neurofilament protein. Low concentrations of ATO led to morphologic differentiation, with fewer stem cells in Go state and differentiation-associated cytochemical features, like increased sensitivity to cytostatic drugs and radiotherapy. CONCLUSION: ATO exposure before conventional postoperative chemoradiotherapy for GBM might increase treatment efficacy. Further in vivo experiments on laboratory animals and analysis of absorption rate and side effects are required.

Functional and molecular characterization of glioblastoma multiforme-derived cancer stem cells.

PURPOSE: Brain tumors are the leading cause of cancer mortality in children and remain incurable despite advances in surgery and adjuvant therapies. The failure of malignant gliomas to respond to conventional treatment reflects the unique biology of these tumors, linked to a small population of stem-like precursors. This study describes the characteristics of stem cells isolated from glioblastoma multiforme (GM) and gives insight into the mechanism of brain tumorigenesis. METHODS: Tumor stem-like precursors were identified from primary human GM-derived cell culture using immunocytochemistry and reverse transcription polymerase chain reaction (RT-PCR). Cells were cultured in vitro in stem cell medium supplemented with growth factors and then the capacity of the surviving stem-like precursors to form tumor spheres and to continue to proliferate after chemoradiotherapy were tested. RESULTS: The tumor cells expressed the cellular markers CD133, CD105, CD90, Nanog, Oct 3/4, CXCR4, nestin, glial fibrillary acidic protein (GFAP), neurofilament protein (NF) and human glyceraldehyde 3-phosphate dehydrogenase (GAPDH). Cells also displayed a high proliferative potential despite chemotherapy and irradiation and also had the ability to form spheroids in suspension. CONCLUSION: High grade gliomas contain stem-like precursors, which exhibit neural stem cell properties with tumorigenicity, establishing a novel developmental paradigm in the study of brain carcinogenesis and providing a powerful tool to develop patient-tailored therapy for this devastating disease.

Epidemiology of Traumatic Brain Injury in Oltenia Region: a Retrospective Study.

Traumatic brain injury (TBI) represents a common cause of presentation in the emergency room and is considered a major health problem all over the world. Our study objective was to provide a regional perspective from a county hospital regarding epidemiologic aspect of TBI in a single year and to compare it with existing studies. 592 patients fulfilled the inclusions criteria and their characteristics were noted. We observed that the highest rate of TBI was among older people with an age over >60 years with 40.88%, which represented 242 of cases. Middle age adults (40 to 60 years) represented 34.29% whereas young adults were 16.72%. The remaining cases of 8.11% suffered mostly of concussions (80%) and were encountered in the <20 years group. While comparing with the local population of the Dolj County we obtained an incidence of 89.6 per 100.000 people. When discussing gender, we observed that most of the patients were male with a ratio of 2,3:1. Over one year, 132 deaths were cause of TBI, with most of them being related to older age 55.71%, followed by the middle age adults with 37.93%. Direct cost was also assessed with 894.110.523 which represents more than 200.000 euro. Medium cost per patient was 6.296.552 RON, 1414 euro, with most of the patients having a medium admission of 10 days. TBI represents a major problem and perhaps a better assessment and a national program will help enhance the treatment quality and might also help reduce the cost.

Concurrent chemoradiotherapy with vinorelbine and a platinum compound followed by consolidation chemotherapy for unresectable stage III non-small cell lung cancer: preliminary results of a phase II study.

PURPOSE: To determine the efficacy, toxicity and survival of concurrent therapy with vinorelbine and a platinum compound with radiotherapy (RT), followed by consolidation chemotherapy with the same drugs, for locally advanced non small cell lung cancer (NSCLC). PATIENTS AND METHODS: Fifty-seven patients with stage III NSCLC were included in this phase II study: median age 56 years (range 44-71), males / females 49/8, ECOG performance status (PS) 1/2=27/30, stage IIIA/ IIIB 11/46, squamous cell carcinoma 44, adenocarcinoma 7, adenoid cystic carcinoma 1 and large cell carcinoma 5. Treatment consisted of 2 cycles of chemotherapy with vinorelbine and cisplatin or carboplatin, given concurrently with RT, followed by 2-4 more cycles of consolidation chemotherapy with the same drugs. Twenty-two patients received amifostine for radio- and chemoprotection. RESULTS: Grade 3 or 4 toxicities were neutropenia and esophagitis in 19% of the patients each, and gastrointestinal toxicity in 17% of the patients. Of the 55 patients evaluable for response, 23.64% achieved complete response (CR) and 40% partial response (PR) (overall response rate 63.64%). Progression-free survival curves showed 1- and 2-year values of 42% and 21%, respectively, and median time to progression 10.5 months. The 1- and 2- year disease-specific survival was 58% and 29%, and the median overall survival 15 months. CONCLUSION: Preliminary analysis indicates that concurrent vinorelbine and a platinum compound with RT followed by consolidation chemotherapy with the same drugs for advanced stage III NSCLC is well tolerated, has considerable activity and positive impact on survival.

The Complexity of Pulmonary Complications in Acute Kidney Injury.

BACKGROUND: Pulmonary complications often occur in patients with acute kidney injury, and represent an important cause of death. OBJECTIVE: To analyze the complexity of lung disorders in patients with RIFLE class III acute kidney injury undergoing hemodialysis and the physiopathological mechanisms that cause the various pulmonary complications. METHODS: Our study included 74 clinical cases of acute kidney injury of various etiologies (severe sepsis, trauma, post-surgery, toxic, etc.). The respiratory function of these patients was monitored from the clinical and radiological points of view. Deceased patients underwent autopsy. RESULTS: Pulmonary complications occurred in 47.24% of cases. Most pulmonary complications (over 50%) occurred in sepsis-induced acute kidney injury.Regarding the clinical aspects of pulmonary complications, the most frequent were ARDS, atelectasisand bronchopneumopathies, determined by the etiological factors that had caused the acute kidney injury in the first place, and by the acute kidney injury-induced physiological effects. CONCLUSIONS: 1. The frequency of pulmonary complications in acute kidney injury is very high and has a negative impact on the evolution and prognosis. 2. The etiology of the pulmonary complications is complex, as these are caused by the agents that induced the acute kidney injury in the first place, most frequently by septic shock. 3. Along with clinical and radiological evidence of pulmonary damage, severe pulmonary histological lesions were found in deceased patients, with a high contribution to the increased mortality rate.

Fetal Kidneys Ultrasound Appearance in the First Trimester - Clinical Significance and Limits of Counseling.

OBJECTIVE: The objective of this study was to determine the visualizing rate of fetal kidneys at various gestational ages in late first trimester (FT) and to establish the clinical significance of their two-dimensional ultrasound (2DUS) appearance in the FT. METHODS: In a prospective cross-sectional study, 1456 women from an unselected population underwent a detailed assessment of fetal anatomy at 11+0 -13+4 weeks of gestation with the use of transabdominal sonography. Information on the ultrasound findings, antenatal course and perinatal outcome was obtained in 1331 cases. RESULTS: 44 cases in which a congenital kidney disease was detected by ultrasound in the prenatal period were identified. The renal pathology was suspected in the FT in 8 cases, and confirmed by a standard test (postmortem autopsy or second-trimester scan) in 4 cases. The standard detailed second-trimester scan at 18-22 weeks diagnosed another 23 cases but refuted suspicion in 4 FT positive cases. The third trimester added another 17, all confirmed by the postpartum scan. For FT presence or absence of congenital renal anomalies, sensitivity, specificity, +LRs and -LRs of 2DUS were 9.09%, 99.69%, 29.25, and 0.91. CONCLUSION: FT prenatal kidneys' visualization is critically dependent on the gestational age. FT diagnosis holds uncertainty. An early diagnosis carries a risk of providing a false-positive or a false-negative result, because the differentiation of the renal system is delayed or the diagnosis is not amenable yet to prenatal ultrasound. No FT findings can exclude the mid-trimester follow-up ultrasound scan. Second and third trimester scan are relevant for congenital kidney diseases.

[The therapeutic approach in optic neuropathy due to methyl alcohol]. / Atitudine terapeutica în neuropatia optica prin alcool metilic.

The paper reports on the case of a 44-year-old patient suffering from toxic optic neuropathy produced by ingestion of a drink brought at second hand. The eye examination revealed the installment of bilateral blindness without the perception of light and with alteration of the general state. After the treatment with 3 perfusions/day with 22 ml ethylic alcohol, 90 degrees, in 250 ml glucosed serum 10%, 200 mg vitamin B1, 500 mg vitamin B6, nicotined xanthnol, vials II for six days, the evolution was good: VOD = 2/3 n.c.; VOS = 1/8 n.c.