The effects of close kinetic chain exercises on proprioception and physical activity level in pediatric patients with hemophilia

Introduction: Knee joint proprioception is affected, and lower extremity functioning declines over time in patients with hemophilia A. Aim: To investigate the effects of a structured exercise programme consisting of the close kinetic chain (CKC) exercises on proprioception and physical activity level in pediatric patients with hemophilia. Methods: A total of 21 patients with hemophilia A who had at least one target knee joint were randomized into three groups: Study Group (SG, n = 7), Conventional Treatment Group (CTG, n = 7) and Control Group (CG, n = 7). The SG received a structured, lower limb-specific exercise protocol consisting of CKC exercises 2 days a week for 12 weeks, in addition to prophylactic treatment. The CTG received exercise training as described in the published literature. The CG continued to receive prophylactic treatment during the study period. Proprioception was measured using a digital goniometer before and after treatment in open and closed kinetic chain positions (CKCPs). The Five Times Sit to Stand (STS), Timed Up and Go (TUG) and Functional Independence Score in Hemophilia were used for the assessment of physical activity level. Results: A significant pre/post-treatment difference was found among the groups in proprioception (p =.001) and physical activity level (TUG p =.008, STS p =.001, FISH p =.006). Improvements in proprioception and physical activity level were greater in the SG compared to the other two groups (p <.05). Conclusion: Compared to conventional exercise, the structured exercise protocol consisting of CKC exercise training produced improvements in proprioception and physical activity in patients with hemophilia A. © 2022 John Wiley & Sons Ltd

Secondary severe thrombocytosis in a patient who underwent splenectomy due to hereditary spherocytosis and its treatment using hydroxyurea

Thrombocytosis is a frequently seen condition during childhood. While it usually develops secondarily due to reasons such as infection or anemia, it may rarely develop due to clonal causes. Thrombocytosis becomes a life-threatening condition by causing severe complications such as hemorrhage and thrombosis development. Treatment is not recommended in patients who are asymptomatic and with a platelet count below 1,500,000/mm3, however, treatment is required in cases who are symptomatic and with a platelet count above 1,500,000/mm3&nbsp;in conditions such as primary thrombocytosis. This article present the outcomes of a patient who was treated using low-dose hydroxyurea when he developed severe thrombocytosis after splenectomy

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort

Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (IC) from Turkey diagnosed with all three VWD types, the majority (73%) with parents who were knowingly related. IC were screened for mutations using multiplex ligation-dependent probe amplification and analysis of all von Willebrand factor gene (VWF) exons and exon/intron boundaries. Selected missense mutations were expressed in vitro. Candidate VWF mutations were identified in 25 of 26 IC and included propeptide missense mutations in four IC (two resulting in type 1 and two in recessive 2A), all influencing VWF expression in vitro. Four missense mutations, a nonsense mutation and a small in-frame insertion resulting in type 2A were also identified. Of 15 type 3 VWD IC, 13 were homozygous and two compound heterozygous for 14 candidate mutations predicted to result in lack of expression and two propeptide missense changes. Identification of intronic breakpoints of an exon 17–18 deletion suggested that the mutation resulted from non-homologous end joining. This study provides further insight into the pathogenesis of VWD in a population with a high degree of consanguineous partnerships

Neden diğer uzmanlıklar, neden aile hekimliği uzmanlığı değil?

Amaç: Dünyada uzman hekimlerin branşlara özgü dağılımı önemli bir sorundur. Birinci basamakta yüksek kalitede bir sağlık hizmeti için, aile hekimliği uzmanlarının sayısının artması gerekmektedir. Bu çalışma, tıp fakültesi son sınıf öğrencilerinin kariyer seçimlerini, bunları etkileyen faktörleri belirlemek ve aile hekimliği uzmanlığına bakışlarını değerlendirmek amacıyla yapılmıştır. Gereç ve Yöntem: Kesitsel ve tanımlayıcı bu çalışmaya Eylül 2018 - Ekim 2018 tarihleri arasında Gaziantep Üniversitesi Tıp Fakültesi altıncı sınıf öğrencisi 132 kişi dahil edilmiştir. Katılımcılara tıp fakültesini seçme nedenleri, uzmanlık seçiminde etki eden faktörler ve aile hekimliği uzmanlığı ile ilgili görüşlerini içeren anket uygulanmıştır. Bulgular: Öğrencilerin %10,6’sı mezun olduktan sonra aile hekimi olarak çalışmayı istemektedir. Erkek öğrencilerin kariyer tercihlerinde en çok istedikleri ilk üç uzmanlık dalı KBB, iç hastalıkları, göz, kız öğrencilerin deri ve zührevi hastalıklar, iç hastalıkları, çocuk ve ergen ruh sağlığı ve hastalıkları uzmanlık alanı olduğu bulunmuştur. Öğrencilerin %7,5’inin ilk üç tercihi arasında aile hekimliği uzmanlığı yer alırken, %21,2’sinde yan dal uzmanlık alanlarının olduğu saptanmıştır. Öğrencilerin %56’sının aile hekimi ve aile hekimliği uzmanı arasında ‘çok az farklılık olduğunu’ düşündüğü bulunmuştur. Aile hekimliği uzmanı olmak isteyenlerin oranı %9 olup %31’i diğer uzmanlık dallarını kazanamazlarsa düşüneceklerini belirtmiştir. Öğrencilerin aile hekimliği uzmanlığını; maddi getiri %58.3, iş-yaşam dengesi %84.8, rahatlık-kolaylık-nöbetlerin olmaması %88.6, insanlara faydalı olma %48.4, risk ve sorumluluk özellikleri %67,4 oranlarında iyi olarak değerlendirilirken, eğlenceli, ilginç olması, monoton-sıkıcı olmaması %56,8, saygınlık (prestij) %46,2, akademik kariyer özellikleri %43,9 oranlarında iyi değil olarak değerlendirdiği bulunmuştur. Sonuç: Sonuç olarak tıp fakültesi öğrencilerinin tıpta uzmanlaşmayı hatta yan dal uzmanlık alanlarını planladıkları, aile hekimliği uzmanlığına ilgilerinin düşük olduğu bulunmuştur. Bu nedenle mezuniyet öncesi tıp eğitiminde, aile hekimliği ile ilgili dersler verilerek bir uzmanlık dalı olarak aile hekimi uzmanlığı vurgulanmalıdır. Aile hekimliği uzmanlığının daha tercih edilebilir olması ve toplum tarafından saygınlığının arttırılması için gerekli önlemlerin alınması ve çalışmaların yapılması gerekmektedir

İhmal Edilen Önemli Bir Konu, “Kötü Haber Verme”: Hekimler Ne Biliyorlar?

Amaç: Hastanın yaşamını olumsuz etkileyen yeni tıbbi bilgilerin iletilmesi olarak tanımlanan kötü haber verme (KHV) hekimlerin bilmesi ve uygulaması gereken önemli ve zor bir iletişim becerisidir. Bu çalışma, bir üniversite hastanesinde çalışan asistan hekimlerin KHV ile ilgili bilgi, tutum ve davranışlarını değerlendirmek amacıyla yapılmıştır. Gereç ve Yöntem: Tanımlayıcı özellikteki bu çalışma, 01.03.2022-01.04.2022 tarihleri arasında bir üniversite hastanesinde yapıldı ve veriler 35 sorudan oluşan online anket aracılığıyla toplandı. KHV iletişimi ile ilgili davranışlar asla, nadiren, bazen, çoğu zaman ve her zaman olarak 5’li likert tipi ölçek ile değerlendirildi. Bulgular: Çalışmaya katılan 117 hekimin yaş ortalaması 28,7±2,41 (min: 24-max: 38) olup, %52,1’i erkekti. Katılımcıların %47,9’u evli, %71,8’i dâhili tıp bilimlerinde çalışıyordu. Hekimlerin %64,1’inin son 6 ay içerisinde kötü haber verdiği belirlendi. Cerrahi bölümlerde çalışan hekimlerde KHV (%78,8), dâhili bölümlerde çalışanlara göre (%58,3) anlamlı olarak yüksekti (p=0.038). KHV ile ilgili eğitim almayanların oranı %85,5 ve KHV ile ilgili eğitim almak isteyenlerin oranı %76,9 olarak bulundu. KHV ile ilgili SPIKES ve BREAKS protokollerini duyanların oranı %5,1 idi. KHV’den önce hastadan izin almak, hastalığının prognozu ile ilgili hastaya net bilgi vermemek, kötü haberi yalnızca hasta yakınlarına iletmek sıklığı sırasıyla %31,6, %26,5 ve %23,1 olarak çoğu zaman/her zaman yapılan davranışlar olarak belirlendi. KHV iletişimi sırasında çoğu zaman/her zaman empati kurma dâhili bölümlerde çalışan hekimlerde (%70,2) cerrahi bölümlerde çalışan hekimlere göre (%45,5) anlamlı olarak yüksek bulundu (p=0.012). Sonuç: Sonuç olarak çalışmamızda, KHV ile ilgili hekimlerin büyük bir kısmının eğitim almadığı ve KHV iletişimi ile ilgili bazı davranışlarda yetersiz oldukları saptanmıştır. Tıp fakültesi eğitimi sırasında ve mezuniyet sonrasında dönemde KHV ile ilgili eğitimler verilerek tüm hekimlerin bu iletişim becerilerinin geliştirilmesi ve kötü haberlerin uygun bir şekilde iletilmesi sağlanmalıdır

Hemophilia patients treated with radioactive synovectomy

AMAÇ: Kolay, ucuz, invaziv olmayan, hastanede çok kısa süre kalmanın yeterli olduğu, gerektiğinde tekrarlanabilen bir girişim olan radyoaktif sinovektomi, yeterince faktör kullanılmayan ülkemiz gibi gelişmekte olan ülkeler için eklem sakatlıklarını önlemede değerli bir tedavi şekli olarak görünmektedir. Amaç, hedef eklemde kanama sıklığını azaltmak ve henüz kalıcı hasar oluşmadan kıkırdağı ve mevcut eklem fonksiyonlarını korumaktır. GEREÇ VE YÖNTEMLER: Çocuk Hematoloji Ünitemizde Hemofili A tanısıyla takipli ve radyoaktif sinovektomi yapılan yaşları 3-12 arasında değişen sekiz hastamızın verileri retrospektif olarak incelendi. BULGULAR: Radyoaktif sinovektomi; 8 Hemofili A hastasının 10 ayrı eklemine uygulandı. Uygulama günü preop faktör düzeyleri %50 olacak şekilde faktör uygulandı ve 3 gün sürdürüldü. Hastalarımızda herhangi bir komplikasyon gelişmediği gözlendi. SONUÇ: Hastalarımızda ortalama takip süresi 4 ay-2 yıl (9 ay) idi. Takipleri esnasında herhangi bir komplikasyon izlenmedi. Tüm hastalarda hedef eklemdeki kanama sayısı en az % 50 düzeyinde azaldı. Radyoaktif sinovektomi, ileri dönem hemofilik artropati bulguları gelişmeden hastalara uygulanabilirse daha iyi sonuçlar alınabilecektir. Hastaların ağrı derecelendirmesi ve klinik bulguları değerlendirildiğinde, radyosinovektominin hastanın yaşam kalitesinin iyileştirilmesi açısından önemli olduğu gözardı edilmemelidir.OBJECTIVE: Radioactive synovectomy is an easy, cheap,noninvasive, reproducible procedure when necessary and need short time to stay in hospital. It is a valuable treatment modality for prevention of joint disability in developing countries like our country in where there is not enough factor for using. The aim is to reduce frequency of bleeding in targeted joint and to preserve the available joint function and cartilage before permanent damage has occurred. MATERIALS AND METHODS: This is a retrospective analysis of our 8 patients with diagnosis of hemophilia A and treated with radioactive synovectomy in our pediatric hematology unit. RESULTS: Their ages varried between 3-12 years old. Radioactive synovectomy was applied to 10 different joints of these 8 hemophilia patient. The factor was given during the day of treatment and continued for 3 days so as to maintain the 50% factor level. No complication was seen in our patients. CONCLUSION: Radioactive synovectomy raised popularity recently in hemophilia management and it is valuable in prevention of possible joint disability. When comparing with surgical synovectomy, radiosynovectomy has many advantageous. This treatment modality is becoming more attractive in patients with recurrent hemartrozis of hemophilia patients because of it is a minimal invasive, easy usable procedure and does not need hospitalization, preserving joint movement ability, need of coagulation factor replacement is low and rehabilitation period is short. When considering pain scoring and clinical signs of patients, radiosynovectomy should not be ignored especially from aspect of improving life quality of patients

İmmün trombositopenili çocuk hastalarda eltrombopag tedavisi ve tedaviye bağlı demir eksikliği

Objective: Immune thrombocytopenia (ITP) is a rare autoimmune disease and hematologic disorder characterized by reduced platelet counts that can result in significant symptoms, such as bleeding, bruising, epistaxis, or petechiae. The thrombopoietin receptor agonist eltrombopag (EPAG) is a second-line agent used to treat chronic ITP purpura in adults and children. Materials and Methods: The present retrospective study evaluated the efficacy, safety, and side effects of EPAG treatment in pediatric patients with acute refractory and chronic immune thrombocytopenia, particularly focusing on iron-deficiency anemia. Results: The diagnosis was chronic ITP in 89 patients and acute refractory ITP in 16 patients. The mean age of patients was 9.5±4.5 years (minimum-maximum: 1.2-18 years) at the beginning of EPAG treatment. The overall response rate was 74.3% (n=78). The mean time for platelet count of ≥50x109/L was 11.6±8 weeks (range: 1-34 weeks). The treatment was stopped for 27 patients (25.7%) at an average of 6.8±9 months (range: 1-38 months). The reason for discontinuation was lack of response in 18 patients, nonadherence in 4 patients, and hepatotoxicity in 2 patients. Response to treatment continued for an average of 4 months after cessation of EPAG in 3 patients. Conclusion: Results of the current study imply that EPAG is an effective therapeutic option in pediatric patients with acute refractory and chronic ITP. However, patients must be closely monitored for response and side effects during treatment, and especially for iron deficiency

Birth defects in newborns and stillborns: an example of the Brazilian reality

<p>Abstract</p> <p>Background</p> <p>This study constitutes a clinical and genetic study of all newborn and stillborn infants with birth defects seen in a period of one year in a medical school hospital located in Brazil. The aims of this study were to estimate the incidence, causes and consequences of the defects.</p> <p>Methods</p> <p>For all infants we carried out physical assessment, photographic records, analysis of medical records and collection of additional information with the family, besides the karyotypic analysis or molecular tests in indicated cases.</p> <p>Result</p> <p>The incidence of birth defects was 2.8%. Among them, the etiology was identified in 73.6% (ci95%: 64.4-81.6%). Etiology involving the participation of genetic factors single or associated with environmental factors) was more frequent 94.5%, ci95%: 88.5-98.0%) than those caused exclusively by environmental factors (alcohol in and gestational diabetes mellitus). The conclusive or presumed diagnosis was possible in 85% of the cases. Among them, the isolated congenital heart disease (9.5%) and Down syndrome (9.5%) were the most common, followed by gastroschisis (8.4%), neural tube defects (7.4%) and clubfoot (5.3%). Maternal age, parental consanguinity, exposure to teratogenic agents and family susceptibility were some of the identified risk factors. The most common observed consequences were prolonged hospital stays and death.</p> <p>Conclusions</p> <p>The current incidence of birth defects among newborns and stillbirths of in our population is similar to those obtained by other studies performed in Brazil and in other underdeveloped countries. Birth defects are one of the major causes leading to lost years of potential life. The study of birth defects in underdeveloped countries should continue. The identification of incidence, risk factors and consequences are essential for planning preventive measures and effective treatments.</p

Neogene Uplift and Magmatism of Anatolia: Insights from Drainage Analysis and Basaltic Geochemistry

It is generally agreed that mantle dynamics have played a significant role in generating and maintaining the elevated topography of Anatolia during Neogene times. However, there is much debate about the relative importance of subduction zone and asthenospheric processes. Key issues concern onset and cause of regional uplift, thickness of the lithospheric plate, and the presence or absence of temperature and/or compositional anomalies within the convecting mantle. Here, we tackle these interlinked issues by analyzing and modeling two disparate suites of observations. First, a drainage inventory of 1,844 longitudinal river profiles is assembled. This geomorphic database is inverted to calculate the variation of Neogene regional uplift through time and space by minimizing the misfit between observed and calculated river profiles subject to independent calibration. Our results suggest that regional uplift commenced in the east at 20 Ma and propagated westward. Secondly, we have assembled a database of geochemical analyses of basaltic rocks. Two different approaches have been used to quantitatively model this database with a view to determining the depth and degree of asthenospheric melting across Anatolia. Our results suggest that melting occurs at depths as shallow as 60 km in the presence of mantle potential temperatures as high as 1400°C. There is evidence that potential temperatures are higher in the east, consistent with the pattern of sub-plate shear wave velocity anomalies. Our combined results are consistent with isostatic and admittance analyses and suggest that elevated asthenospheric temperatures beneath thinned Anatolian lithosphere have played a first order role in generating and maintaining regional dynamic topography and basaltic magmatism

A Multicenter Retrospective Study Comparing Immunosuppressive Therapy Combined with Eltrombopag to Immunosuppressive Therapy Alone as Frontline Treatment for Pediatric Severe Aplastic Anemia

Objective: Eltrombopag (EPAG) added to standard immunosuppressive therapy (IST) has been associated with higher overall response (OR) and complete response (CR) rates in adult patients with treatmentnaïve severe aplastic anemia (SAA), but clinical evidence on the efficacy of EPAG in children with acquired aplastic anemia is limited and controversial. This retrospective study aimed to determine the efficacy and safety of EPAG combined with IST in pediatric patients with SAA compared to a standard IST group. Materials and Methods: We compared the efficacy and safety of EPAG combined with IST (n=38) versus IST alone (n=57) as frontline treatment for pediatric patients with SAA. Results: The EPAG+IST group had higher CR and OR rates at 3 and 6 months, although the 1-year OR, CR, and partial response rates showed no significant difference between the two groups. Older age at diagnosis (&gt;8.95 years) was associated with a higher OR rate at 6 months and 1 year in the EPAG+IST group (p=0.007 and p=0.005, respectively). The addition of EPAG to IST did not achieve superiority over IST alone in terms of overall survival (OS) and event-free survival (EFS) in this study, with 1-year EFS of 81.1% for EPAG+IST and 71.3% for IST, and 1-year OS of 89.2% versus 80.4%, respectively. Conclusion: EPAG+IST induced a faster response compared to IST alone without increasing toxic effects, but EPAG did not confer additional benefits regarding OS or relapse rates in children. Notably, older age at diagnosis was significantly associated with improved response rates in the EPAG+IST group