Multiple vertebral metastases from brain glioblastoma: An insidious complication

Abstract Glioblastoma (GBM) is the most malignant and the most frequent of primary astrocytomas, typically involving the Central Nervous System (CNS) alone. Extra-CNS localizations (ECM) are exceptional, and vertebral dissemination is extremely uncommon. We present the case of a patient with vertebral dissemination from an intracranial GBM without intra-dural space invasion. The patient underwent a gross total tumor removal followed by radiation therapy (RT) with concomitant temozolomide chemotherapy (STUPP protocol). Following the appearance of back pain, patient underwent whole body computed tomography (CT) and spinal magnetic resonance imaging (MRI) scan. Spinal-MRI highlighted multiple vertebral lesions not infiltrating dura mater being confined to vertebral bodies. CT scan demonstrated the absence of other repetitive lesions in both thorax and abdomen. Histological examination from a percutaneous CT-guided vertebral biopsy confirmed the suspicious of secondary localization from intracranial GBM. To the best of our knowledge this is the second reported case of vertebral metastases from GBM in absence of other ECM. This case raises the need for clinical suspicious of vertebral dissemination in case of GBM patient presenting with radicular, myelopathic symptoms or less specifically, back pain

Thyroid Hormone Profile in Patients Ingesting Soft Gel Capsule or Liquid Levothyroxine Formulations with Breakfast

Background. Recently, it has been shown that liquid L-T4 formulation can be ingested with breakfast. This study looked to extend these findings by investigating whether a soft gel capsule formulation of L-T4 could also be ingested at breakfast time. Methods. 60 patients (18–65 yrs), previously submitted to thyroidectomy for proven benign goitre in stable euthyroidism receiving liquid L-T4 therapy ingested with breakfast, were enrolled. TSH, fT4, and fT3 levels were assessed in all the patients who were switched from liquid L-T4 to a soft gel capsule formulation at the same dosage of L-T4. After 6 months, TSH, fT4, and fT3 levels were determined again. Results. There were no differences in TSH levels, but fT3 and fT4 levels during treatment with the soft gel capsule were significantly lower than those at enrolment with the liquid L-T4 formulation (TSH median (min–max): 1.9 (0.5–4.0) versus 2.2 (0.5–4.5) mIU/L, fT3: 2.5 (2.4–3.1) versus 2.7 (2.4–3.3) pg/mL, p<0.05, and fT4: 9.9 (8.0–13) versus 10.6 (8.6–13.8) pg/mL, p<0.0001). Conclusion. Both liquid and soft gel formulations of L-T4 can be taken with breakfast. However, liquid L-T4 would be the preferred formulation for patients in whom even small changes in fT4 and fT3 levels are to be avoided

Autoimmune polyglandular syndrome type 4: experience from a single reference center

Purpose: To characterize patients with APS type 4 among those affected by APS diagnosed and monitored at our local Reference Center for Autoimmune Polyglandular Syndromes. Methods: Monocentric observational retrospective study enrolling patients affected by APS diagnosed and monitored in a Reference Center. Clinical records were retrieved and analyzed. Results: 111 subjects (51 males) were affected by APS type 4, mean age at the onset was 23.1 ± 15.1 years. In 15 patients the diagnosis of APS was performed during the first clinical evaluation, in the other 96 after a latency of 11 years (range 1-46). The most frequent diseases were type I diabetes mellitus and celiac disease, equally distributed among sexes. Conclusions: The prevalence of APS type 4 is 9:100,000 people. Type I diabetes mellitus was the leading indicator of APS type 4 in 78% subjects and in 9% permitted the diagnosis occurring as second manifestation of the syndrome. Our data, showing that 50% of patients developed APS type 4 within the first ten years, don't suggest any particular follow-up time and, more importantly, don't specify any particular disease. It is important to emphasize that 5% of women developed premature ovarian failure

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia

Atypical chronic myeloid leukemia (aCML) is a BCR-ABL1-negative clonal disorder, which belongs to the myelodysplastic/myeloproliferative group. This disease is characterized by recurrent somatic mutations in SETBP1, ASXL1 and ETNK1 genes, as well as high genetic heterogeneity, thus posing a great therapeutic challenge. To provide a comprehensive genomic characterization of aCML we applied a high-throughput sequencing strategy to 43 aCML samples, including both whole-exome and RNA-sequencing data. Our dataset identifies ASXL1, SETBP1, and ETNK1 as the most frequently mutated genes with a total of 43.2%, 29.7 and 16.2%, respectively. We characterized the clonal architecture of 7 aCML patients by means of colony assays and targeted resequencing. The results indicate that ETNK1 variants occur early in the clonal evolution history of aCML, while SETBP1 mutations often represent a late event. The presence of actionable mutations conferred both ex vivo and in vivo sensitivity to specific inhibitors with evidence of strong in vitro synergism in case of multiple targeting. In one patient, a clinical response was obtained. Stratification based on RNA-sequencing identified two different populations in terms of overall survival, and differential gene expression analysis identified 38 significantly overexpressed genes in the worse outcome group. Three genes correctly classified patients for overall survival

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Wpływ suplementacji selenu na przywrócenie eutyreozy u chorych na subkliniczną niedoczynność tarczycy w wyniku autoimmunologicznego zapalenia tarczycy

  Intriduction: The thyroid is an organ with one of the highest selenium concentrations, containing many selenoproteins implicated in thyroid hormone metabolism. Treatment with levothyroxine has been recommended for all subclinical hypothyroid patients with TSH levels &gt; 10 mU/L, whereas for those with TSH&lt; 10 mU/L treatment remains controversial. Aim: A randomised controlled prospective study was performed to investigate the effects of Se treatment on patients with autoimmune thyroiditis and mild sub-clinical hypothyroidism (TSH &lt; 10 mU/L). Material and methods: A total of 196 patients with autoimmune thyroiditis were recruited in the study. Patients were assigned to receive (case) or not receive (control) an oral selenomethionine treatment. Cases received 83 mcg selenomethionine/day orally for four months. All the patient’s charts were submitted to thyroid hormonal profile (TSH, fT4) and TPOAb evaluation upon enrolment and at the end of the study. Results: In total 192 patients completed the study. Cases and controls were superimposable for age, gender, thyroid hormonal profile, and TPOAb levels. At the end of the study, 33/192 (17.2%) participants restored euthyroidism (Responders). Responders were significantly more frequent among Cases than Controls (30/96 [31.3%] vs. 3/96 [3.1%], p &lt; 0.0001). Conclusion: Selenium supplementation could restore euthyroidism in one third of subclinical hypothyroidism patients with autoimmune thyroiditis. (Endokrynol Pol 2016; 67 (6): 567–571)    Wstęp: Tarczyca jest narządem, w którym występuję jedno z najwyższych stężeń selenu, zawierającym wiele selenoprotein biorących udział w metabolizmie hormonów tarczycy. Leczenie lewotyroksyną jest zalecane u wszystkich chorych z subkliniczną niedoczynnością tarczycy, u których stężenia TSH wynoszą &gt; 10 mj./l, natomiast u osób ze stężeniem TSH &lt; 10 mj./l takie leczenie pozostaje kontrowersyjne. Cel: Randomizowane prospektywne badanie z grupą kontrolną przeprowadzono w celu oceny wpływu leczenia selenem u chorych z autoimmunologicznym zapaleniem tarczycy i łagodną subkliniczną niedoczynnością tarczycy (TSH &lt; 10 mj./l). Materiał i metody: Do badania włączono 196 chorych z autoimmunologicznym zapaleniem wątroby. Chorych podzielono na dwie grupy: badaną i kontrolną, którym doustnie podawano preparat selenometioniny. Osobom z grupy badanej podawano doustnie 83 mcg selenometioniny/dobę przez 4 miesiące. U wszystkich chorych oznaczono stężenia hormonów tarczycy (TSH, fT4) przeciwciał przeciw TPO na początku i na końcu badania. Wyniki: Badanie ukończyło 192 chorych. Grupa badana i grupa kontrolna były porównywalne pod względem wieku, płci oraz stężeń hormonów tarczycy i przeciwciał przeciw TPO. W momencie zakończenia badania przywrócenie eutyreozy stwierdzono u 33/192 (17,2%) uczestników (odpowiedź na leczenie). Odpowiedź na leczenie występowała istotnie częściej w grupie badanej niż w grupie kontrolnej (30/96 [31,3%] vs. 3/96 [3,1%]; p &lt; 0,0001). Wnioski: Suplementacja selenem spowodowała przywrócenie eutyreozy u jednej trzeciej chorych z subkliniczną niedoczynnością tarczycy w wyniku autoimmunologicznego zapalenia tarczycy. (Endokrynol Pol 2016; 67 (6): 567–571)