Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

WOS: 000413425400010PubMed: 28884960Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved

Rektum kanserinde neoadjuvan tedavi sonrasında gelişen patolojik tam yanıtlı olguların takip sonuçları.

Giriş2002 yılından itibaren neoadjuvan tedavi evre II ve evre III hastalıkta standart olarak uygulanmaktadır. Bu çalışmamızdaneoadjuvan tedavi sonrasında cerrahi tedavi uygulanan ve patolojik sonucu tam regresyon olarak sonuçlanan hastalarınınsonuçlarının değerlendirilmesi planlanmıştır.MetodNisan 2002 ile Aralık 2010 tarihleri arasında İstanbul Tıp Fakültesi Genel Cerrahi Anabilim Dalı kolorektal kanser veri tabanıdemografik veriler, patolojik ve onkolojik sonuçlar retrospektif olarak SPSS 16 ortamında yapılan testlerle değerlendirilmiştir.BulguÇalışmaya dahil edilen toplam 775 rektum kanseri olgusunun 451’ine (%58) neoadjuvan tedavi uygulanmıştır. Neoadjuvantedavi sonrası cerrahi tedavi uygulanan orta ve distal yerleşimli 389 olgunun 73’ünde (%18.7) patolojik tam yanıt saptanmıştır.Tam yanıt alınan olguların demografik (cinsiyet, yaş) verilerinde ve tümör lokalizasyonlarında bir fark saptanamamıştır (p:0.065). Tam yanıt alınan olguların %30’u (n:22) açık, %70’i (n:51) laparoskopik teknik ile ameliyat edilmiştir. Tam yanıt alınan olguların %72.6’sına (n: 53) sfinkter koruyucu cerrahi uygulandı. Olguların sadece 5’inde (%6.8) metastatik lenf nodu saptanmıştır. Ortanca 29 ay takip süresince olguların sadece 2’sinde (%2.73) lokal nüks gelişirken 5’inde ( %6.8) sistemik hastalık gelişmiştir. Hastalıksız sağ kalım % 90.4 oranında olup, genel sağ kalım %93.2 dir.Tartışma ve SonuçCerrahi tedavi sonrasında patolojik tam yanıt saptanan olguların erken dönem onkolojik sonuçları ümit verici olup, kesin kanıya varılabilmesi için daha uzun takip süresine ihtiyaç vardır

Efficacy of Capecitabine and Temozolomide Regimen in Neuroendocrine Tumors: Data From the Turkish Oncology Group

INTRODUCTION: This study aims to report the efficacy and safety of capecitabine plus temozolomide (CAPTEM) across different lines of treatment in patients with metastatic neuroendocrine tumors (NETs). METHODS: We conducted a multicenter retrospective study analyzing the data of 308 patients with metastatic NETs treated with CAPTEM between 2010 and 2022 in 34 different hospitals across various regions of Turkey. RESULTS: The median follow-up time was 41.0 months (range: 1.7-212.1), and the median age was 53 years (range: 22-79). Our results across the entire patient cohort showed a median progression-free survival (PFS) of 10.6 months and a median overall survival (OS) of 60.4 months. First-line CAPTEM treatment appeared more effective, with a median PFS of 16.1 months and a median OS of 105.8 months (median PFS 16.1, 7.9, and 9.6 months in first-, second- and ≥third-line respectively, P = .01; with median OS values of 105.8, 47.2, and 24.1 months, respectively, P = .003) In terms of ORR, the first-line treatment again performed better, resulting in an ORR of 54.7% compared to 33.3% and 30.0% in the second and third or higher lines, respectively (P < .001). Grade 3-4 side effects occurred only in 22.5% of the patients, leading to a discontinuation rate of 9.5%. Despite the differences in outcomes based on treatment line, we did not observe a significant difference in terms of side effects between the first and subsequent lines of treatment. CONCLUSIONS AND RELEVANCE: The substantial superior outcomes in patients receiving first-line CAPTEM treatment highlight its potential as an effective treatment strategy for patients with metastatic NET

TÜRKIYE’DE YOĞUN BAKIM ÜNITELERINDE VENTILATÖR ILIŞKILI PNÖMONIYI ÖNLEMEK IÇIN ALINAN GÜNCEL ÖNLEMLER: TÜRK TORAKS DERNEĞI SOLUNUM YETMEZLIĞI VE YOĞUN BAKIM ÇALIŞMA GRUBU NOKTA PREVALANS ÇALIŞMASI

Objectives: The inadequate quality and nature of sleep is a commonly reported problem among hospitalized patients. The purpose of this study is to examine the effects of progressive muscle relaxation training program on sleep quality, sleep state, pain and life quality of patients who underwent pulmonary resection