Outcome of treosulfan-based reduced-toxicity conditioning regimens for HSCT in high-risk patients with primary immune deficiencies

Introduction: HSCT is the curative therapeutic option in PIDs. Due to the increase in survival rates, reduced-toxicity conditioning regimens with treosulfan have become another alternative. The purpose of this retrospective study was to analyze the outcome of treosulfan-based conditioning before HSCT for patients with PID. Method: A total of 15 patients that received a treosulfan-based conditioning regimen for HSCT were recruited. Type of diagnosis, donor and stem cell source, pretransplant organ damage, infections, engraftment, chimerism, and transplant-related toxicities were analyzed. Results: At a median follow-up time of 32 months, the overall survival was 86.7%. Following HSCT, 14 of 15 patients had engraftment, with 86.7% of the cohort having full-donor chimerism. The most common toxicity was seen on the skin (53.3%). Acute GVHD and chronic GVHD were documented in 53% and 20% of the study population, respectively. Although the cohort consisted of patients with pretransplant liver damage, SOS manifestations were documented in 20%. Conclusion: Treosulfan-based conditioning regimens before HSCT are associated with lower toxicity compared to myeloablative regimens, are safe, and have high engraftment rates with full-donor chimerism in patients having PID, regardless of the specified genetic diagnosis and donor type

Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties

DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously ecognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties

The Comparison of the Effect of Risedronate and Strontium Ranelate on Bone Mineral Density in Postmenopausal Women

Aim: The purpose of our study is to compare the changes in bone mineral density (BMD) in postmenopausal women who had uninterrupted risedronate sodium and strontium ranelate treatment for 3 years. Material and Methods: Eighty-five postmenopausal women with primer osteoporosis who had uninterrupted risedronate sodium (A) (35 mg/week), strontium ranelate (P) (2 g/day) and calcium (1000 mg/day) - vitamin D (880 IU/day) supplementation for 3 years were included in our retrospective study. The demografic data and the yearly BMD measurements (lumbar spine, femur neck and femur total BMD and t scores) were recorded. Results: Group A had 34, and Group P had 51 patients. The mean age of the patients were 62.06±9.16 years and 60.30±7.68 years; and duration of menopause was 16.32±7.81 years and 16.78±8.34 years, respectively. There was statistically no significant difference between the groups regarding age, weight, body mass index, duration of menopause, menarche and menopause age, the lumbar spine, femur neck and total BMD and t scores at the beginning. At the end of uninterrupted 3 years of treatment, statistically significant increase was detected in lumbar spine and femur BMD measurements in Groups A and P (p<0.0001). Statistically significant increase was detected also in lumbar spine t scores in both groups. However, the femur t scores were found not to improve significantly in Group A, while in P, there was significant improvement. When the differences of improvement were compared, there was no difference between Group A and P regarding lumbar spine and femur BMD improvements. Conclusion: There was significant improvement in lumbar spine and femur BMD for Groups A and P at the end of 3 years of treatment for both medical agents, and improvement is similar for both agents. (Turkish Journal of Osteoporosis 2012;18: 58-62

Evaluation of Risk Factors Associated with Osteoporotic Hip Fractures - Original Investigation

Aim: Hip fractures are the most serious and economically most important complication of osteoporosis. Therefore in our study we examined risk factors associated with osteoporotic hip fractures. Material and Methods: Patients (Group 1; n=35) with osteoporotic hip fractures were compared with patients aged ≥70 years without osteoporotic hip fractures (Group 2; n=35). Age and sex distribution of the patients were recorded. From all patients bone mineral density measurements (BMD) of their L1-L4 vertebras and femurs (total and femoral head) were obtained using dual energy X-Ray absorptiometry (DXA) techniques. Their walking distances, presence and location of any previous fracture(s), usage of any assisted device, concomitant disease(s), laboratory values, creatinine clearance (ml/min), and recurrent falling episodes were documented. Results: Any significant difference could not be found as for sex, BMD measurements of relevant regions, presence of any previous fracture(s), history of recurrent falls and creatinine clearance (p >0.05). The mean age of the patients in Group 1 was more advanced (p>0.05). Although walking distances in Group 2 were longer, the difference was not statistically significant (p>0.05).The usage of asisted device and the presence of concomitant disease(s) were more frequently observed in Group 1 (p<0.05). Conclusion: The association of many risk factors with hip fracture has been demonstrated. Determination of these risk factors and their detailed examination are quite important in the prevention of hip fractures and related disabilities. (From the World of Osteoporosis 2010;16:31-4

Çocukluk çağı astımında serum RANTES düzeylerinin değerlendirilmesi

Giriş: İnflamatuvar hücreler için kemoatraktan bir molekül olan RANTES, değişik allerjik hastalık- larda rol oynar. Bu çalışmanın amacı, çocukluk ça- ğı astımında serum RANTES düzeylerini değerlen- dirmek ve akut astım atağındaki değişimini incele- mektir. Gereç ve Yöntem: Serum RANTES düzeyleri yaş- ları 2-14 yıl arasında olan 16 astımlı çocukta (medi- an yaş: 4.5 yıl) akut astım atağı sırasında ve astım atağından iki hafta sonra ELISA yöntemiyle ölçül- dü. Yaş grubu benzer 10 sağlıklı çocuk da kontrol grubunu oluşturdu. Bulgular: Astımlı çocukların atak sırasında ölçü- len serum RANTES düzeyleri kontrol grubu ile ben- zerken, atak sonrası ikinci haftada kontrol grubun- dan yüksek bulundu (p 0.05). Astımlı hastaların 11inde atak sonrası serum RANTES düzeyleri yük- selirken, dördünde düşme saptandı, birinde ise de- ğişiklik gözlenmedi. Astımlı hastalarda gözlenen bu değişiklik istatistiksel olarak anlamlı bulundu. Sonuç: Akut astım atağı sonrası ikinci haftada göz- lenen serum düzeylerindeki yükselme eğilimi, RAN- TESin çocukluk çağı astımının patogenezinde rol oynayabilen bir molekül olabileceği savını destele- mektedir.Objective: RANTES is considered to play an im- portant role in various allergic disorders since it is a potent chemoattractant for inflammatory cells such as eosinophils, memory T cells and monocy- tes. The aim of this study is to determine serum RANTES levels and to assess whether or not it vari- es in acute attack in the children with asthma. Materials and Methods: Serum RANTES levels were measured in 16 asthmatic children (2 to 14 ye- ars of age, median 4.5 years) longitudinally during asthma attacks and two weeks later by ELISA tech- nique. Ten healthy age-matched children without any atopic and infectious disease served as controls. Results: There was no significant difference in se- rum levels of RANTES between asthmatic patients with acute attacks and controls. Two weeks follo- wing the acute attack, the serum RANTES levels we- re higher than the controls, however the difference was insignificant. When we compared the serum RANTES levels of asthmatic patients during acute attack and two weeks following the acute attack, the serum RANTES levels were elevated in 11 asth- matic patients, decreased in four, and remained unchanged in one. This variation occurring among asthmatic acute attack versus stable asthmatic children was statistically significant (p> 0.05). Conclusion: The up-regulation in the production of RANTES detected in stable asthmatic children two weeks after the acute attack suggests that RANTES is a mediator in the pathogenesis of childhood asthm

Evaluation of Risk Factors Associated with Osteoporotic Hip Fractures - Original Investigation

Aim: Hip fractures are the most serious and economically most important complication of osteoporosis. Therefore in our study we examined risk factors associated with osteoporotic hip fractures. Material and Methods: Patients (Group 1; n=35) with osteoporotic hip fractures were compared with patients aged ≥70 years without osteoporotic hip fractures (Group 2; n=35). Age and sex distribution of the patients were recorded. From all patients bone mineral density measurements (BMD) of their L1-L4 vertebrae and femurs (total and femoral head) were obtained using dual energy X-Ray absorptiometry (DXA) techniques. Their walking distances, presence and location of any previous fracture(s), usage of any assisted device, concomitant disease(s), laboratory values, creatinine clearance (ml/min), and recurrent falling episodes were documented. Results: Any significant difference could not be found as for sex, BMD measurements of relevant regions, presence of any previous fracture(s), history of recurrent falls and creatinine clearance (p>0.05). The mean age of the patients in Group 1 was more advanced (p>0.05). Although walking distances in Group 2 were longer, the difference was not statistically significant (p>0.05). The usage of assisted device and the presence of concomitant disease(s) were more frequently observed in Group 1 (p<0.05). Conclusion: The association of many risk factors with hip fracture has been demonstrated. Determination of these risk factors and their detailed examination are quite important in the prevention of hip fractures and related disabilities. (From the World of Osteoporosis 2010;16:13-6

Comparative the effectiveness of occlusal splint and TENS treatments on clinical findings and pain threshold of temporomandibular disorders secondary to bruxism

Amaç: Bu çalışmada bruksizme eşlik eden miyofasyal ağrı sendromlu ve temporomandibuler eklem rahatsızlığı olan hastalarda oklüzal splint ve TENS tedavilerinin klinik bulgular ve ağrı eşiği üzerine olan etkinliklerini karşılaştırdık. Gereç ve Yöntem: Çalışmaya katılan 30 hasta randomize olarak oklüzal splint ve TENS grubu olmak üzere ikiye ayrıldı. Hastaların ağrıları (tetik nokta üzerine algometrik ölçümle saptanan basınç ağrı eşiği, görsel analog ölçek üzerinden istirahat ve fonksiyon halindeki ağrı derecesi), eklem hareket açıklığı (cetvel ile ölçülerek), yaşam kaliteleri (çene ile ilişkili spesifik yaşam kalitesi formu ve genel yaşam kalitesi ölçeği Kısa Form-36 kullanılarak) değerlendirildi. Bu değerlendirmeler tedavi öncesi, tedavi sonu ve tedaviden sonraki 1. ayda olmak üzere toplam üç kez yapıldı. Bulgular: Tetik noktalar üzerine yaptığımız algometrik ölçümlerde, tedavi sonrası hem splint hem TENS tedavisi etkiliydi (p0,05). Her iki grubun ağrı skorlarında azalma mevcuttu (p<0,05). Hastalarımızın çene hareketlerindeki artış splint grubunda daha belirgindi (p<0,05). Temporomandibuler eklem patolojilerine yönelik spesifik yaşam kalitesi ölçeğinde tedavi sonrası ve 1. ay kontrollerinde yine hem splint hem TENS grubunda yaşam kalitesinde artış tespit ettik (p<0,05). Kısa Form-36 değerlendirmesinde ise ağrı kategorisinde etkilenim olup, düzelme TENS grubunda daha belirgindi (p<0,05). Sonuç: Bruksizme bağlı miyofasyal ağrı sendromunda kısa dönemde hem splint hem TENS tedavileri etkin olup, splinte göre TENS’in etkinliğinin daha çabuk kaybolduğu görülmektedir. Bu nedenle TENS’in analjezik etkisinden dolayı diğer tedavi modaliteleri ile kombine olarak uygulanmasının daha uygun olacağını düşünmekteyiz.treatments with respect to clinical findings and pain threshold in patients with myofascial pain syndrome and temporomandibular disorders. Material and Methods: Thirty patients included in the study were randomized into occlusal splint and TENS groups. The severity of pain of the patients (pressure-pain threshold determined with algometric measurements of the trigger point, the degree of pain during rest and functional activities measured with visual analogue, range of motion of joints (measured with a ruler), quality of lives questionnaire specific to masticatory functions and general quality of life scale Short Form-36) were evaluated. These evaluations were repeated three times namely once before, during and after the therapies. Results: Our post-treatment algometric measurements of trigger points pain scores showed that both splint and TENS treatments had been effective (p&lt;0,05). However effectiveness in the TENS group decreased in the first month controls (p&gt;0,05). In both groups pain scores were improved (p&lt;0,05). Improvement in mandibular movements in the patients who applied splint treatment was more significant (p&lt;0,05). We obtained an increase in quality of life measurement scores which is specific to temporomandibular disorders both in TENS group and splint group in post treatment and one month after controls. (p&lt;0,05). However in Short Form-36 evaluations, the pain category was positively influenced and improvement in the TENS group was more apparent (p&lt;0,05). Conclusion: In myofascial pain syndrome secondary to bruxism both splint and TENS treatments are effective in the short term. However the effectiveness of TENS is observedly short lived when compared with TENS treatments. Therefore we suggested that, due to the analgesic properties, usage of TENS in combination with other treatment modalities would be more appropriate