19 research outputs found

    TIBBİ GENETİK VE KLİNİK UYGULAMALARI

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    Vitamin D Deficiency in Turkish Women

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    Osteomalacia is a metabolic bone disease caused by deficiency of vitamin D or its active metabolites. Since poor exposure to sunlight is one of the most common causes of osteomalacia, the disease seems to be rare in countries receiving adequate sunlight. Although Turkey is receiving adequate sunlight throughout the year, Islamic dressing in some women might cause osteomalacia. We report 18 Turkish female patients with osteomalacia aged between 35-86 years. Most common presenting symptoms were bone aches or pains and muscle weakness. Diagnosis of osteomalacia was performed by determinations of low or low-normal serum and urinary calcium levels, decreased serum inorganic phosphorus and serum 25- hydroxyvitamin D levels, increased serum intact PTH and serum alkaline phosphatase levels. X-ray studies of the symptomatic sites were obtained. Radiographically generalized osteopenia was detected in all patients but, there were no pseudo-fractures. All patients were followed prospectively with the treatment of vitamin D analogues (1mg/day) and calcium supplements (1000mg/day). Response to treatment was evaluated with symptomatic relief and laboratory work-up. Criteria used to define clinical improvement include relief of pain, fatigue, muscle strength and weakness, and decrease in neurological complaints (including paresthesia, muscle spasms). Clinical response was observed in all patients after 2 months follow-up (mean duration 6 months). Most important risk factor common to all patients was excessive clothing due to religious teling. Excessive clothing might be a risk factor for osteomalacia in young to middle-aged and otherwise healthy women even in countries with adequate sunlight

    Clenched fist syndrome; an isolated fixed dystonia: A case report and review of the literature

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    Bilimsel zemin: istirahatte nötral pozisyona dönmeyen, hareketsiz distonik postür olarak tanımlanan sabit distoninin ellerde görülen izole formu olan yumruk el sendromu (YES), fokal el distonisiyle karışabilir. Sabit distoniler; sekonder distonilerde (akkiz bazal ganglion hastalıklarında, kortikobazal dejenerasyonda), kompleks bölgesel ağrı sendromunda, psikojen hareket bozukluğunda karşımıza çıkabilir. Bu tip distonilerin tanı aşaması uzun, tedavisi de güç olmaktadır. AMAÇ: Yumruk el sendromlu bir olguyu sunarak, ayırıcı tanısını ve tedavisini literatür eşliğinde tartışmayı amaçladık. OLGU: Ellerini (sağı 5, solu 3 yıldır) kullanamama şikâyeti ile gelen, 42 yaşında kadın hastanın fizik muayenesinde, iki elin dorsal yüzünde gode bırakan ödem, palmar yüzünde maserasyon, fissür ve kötü bir koku, tırnaklarda trofik değişiklikler gözlendi. Nörolojik muayenede bilateral üst ekstremitelerde yumruk yapılmış el şeklinde fleksiyon postürü saptandı. Volenter ve zorlu ekstansiyona getirilemedi. Anestezi uygulandıktan sonra ellerde minimal pasif ekstansiyon sağlandı. Kranial ve spinal MR, biyokimya ve kan tetkikleri normal saptandı. EMG'de distonik aktivite gözlenmedi. Tedavide multidisipliner yaklaşım uygulandı. YORUM: Sabit distonili ve dolayısı ile yumruk el sendromlu hastalarda primer ve sekonder sebepler ekarte edildikten sonra tanıya ve tedaviye yönelik invazif yaklaşımlardan kaçınılarak, fizyoterapi, iş-uğraşı tedavisi, kognitif davranışçı tedavi, psikoterapi, botulinum toksin uygulaması, antikolinerjik, antiepileptik, benzodiazepinler gibi tedavileri içeren, nörolog, fizyoterapist, psikiyatrist, el cerrahı ve dermatoloğun katılımıyla multidisipliner bir yaklaşım gerçekleştirilmelidir.Scientific BACKGROUND: Fixed dystonia, is an immobile dystonic posture which could not return to neutral position at rest. Clenched fist syndrome, which is an isolated form of fixed dystonia of hands, could be confused with focal hand dystonia. Fixed dystonias could be seen in symptomatic dystonias (such as corticobasal degeneration, acquired basal ganglion disease), complex regional pain syndrome, and psychological movement disorder. The diagnosis of this kind of dystonias may be delayed and the treatment is difficult. OBJECTIVE: Our aim is to present a case with clenched fist syndrome, to discuss the differential diagnosis, treatment and to review of the literature. CASE: The patient is a 42-year-old woman with inability to use her right hand for 5 and left hand for 3 years. In physical examination, dorsum of the hands were oedematous, palms of the hands were macerated with a bad odour, and unguis had a dystrophic appearence. In neurologic examination, clenched fists were observed. Voluntary and forced extension of the interphalangeal and metacarpophalangeal joints were impossible. After general anesthesia, passive extension of the hands were only minimal. Cranial, spinal magnetic resonance imaging and blood chemistry were within normal limits. In needle electromyographic study dystonic discharges were not observed. Multidisciplinary approach was performed in management. CONCLUSION: In clenched fist syndrome or generally in fixed dystonias, invasive treatment modalities had to be avoided. Treatment modalities including physiotherapy, work-therapy, behavioural therapy, psychotherapy, botilinum toxin injection, medical treatment such as anticholinergics, benzodiazepine and antiepileptics should be performed by multidisciplinary approach after primary and secondary etiologies were eliminated. This means neurologist, physiotherapist, psychiatrist, dermatologist, and hand surgeon should work together when dealing such a patient

    Effect of traction therapy in knee osteoarthritis: A prospective controlled study

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    Amaç: Diz osteoartriti tedavisinde traksiyon tedavisinin etkinliğini araştırmak. Hastalar ve Yöntem: Diz osteoartriti tanısı almış 43 hasta çalışmaya dahil edildi. Hastaların ayakta basarak ön-arka diz grafileri çekildi ve Kellgren- Lawrence sınıflaması yapıldı. Yirmi dört hasta traksiyon, hot pack, mikrodalga ve kuadriseps izometrik egzersizleri ile, 19 kontrol hastası hot pack, mikrodalga ve kuadriseps izometrik egzersizleri ile 15 seans tedavi edildi. Traksiyon tedavisi, hastalar masa üzerinde oturur pozisyonda, diz tam ekstansiyonda 20 dakika süre ile 15 kg ağırlık uygulanarak intermittant olarak yapıldı. Tüm hastaların tedavi öncesi ve sonrası diz eklem hareket açıklığı goniometrik olarak ölçüldü. Diz ağrısı vizüel analog skala (VAS) (hareket ve istirahatte) ile, fonksiyonel durum Lequesne Fonksiyonel İndeksi ile değerlendirildi. Tüm değerlendirmeler tedavi başlangıcında ve tedavi bitiminde yapıldı. Bulgular: Traksiyon grubunda tedavi öncesi ve sonrası VAS (hareket sırasında) (p<0.05), VAS (istirahat sırasında) (p<0.05) ve Lequesne Fonksiyonel indeksi (p<0.05) parametrelerinde kontrol grubuna göre istatistiksel olarak anlamlı bir azalma saptandı. Sonuç: Diz osteoartritinde traksiyon tedavisinin ağrı ve fonksiyonel durum üzerinde yararlı etkisi olduğunu düşünmekteyiz.Objective: To investigate the effect of traction therapy on knee osteoarthritis. Patients and Methods: Forty-three patients diagnosed knee osteoarthritis were included in this study. Knee radiographies of patients were taken and classified according to Kellgren-Lawrence classification. Twenty-four patients were treated with traction, hot pack, microwave and isometric exercises while 19 patients in control group were treated with hot pack, microwave and isometric exercises for 15 sessions. Traction was applied intermittently with 15 kg for 20 minutes while patients were sitting position, their legs fully extended. Range of motion of knee was measured with goniometry. The patient's functional status was determined with Lequesne Functional Index and pain levels in rest and motion evaluated with visual analog scale (VAS) before and after 15 therapy sessions. Results: There was statistically significant decreasing in VAS (rest) (p<0.05), VAS( motion) (p<0.05) and Lequesne Funtional Index (p<0.05) in traction group. Conclusion: We suggest traction therapy has beneficial effects on pain and functional status in knee osteoartrhritis

    Mediterranean Spotted Fever: Report of Two Cases

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    Two patients with Mediterranean spotted fever are presented. The etiologic agent, Rickettsia conorii was diagnosed by immunofluorescence in one of them. We aim to emphasize the presence of Rickettsia conorii in our country and to summarize the preventive measures

    Clenched Fist Syndrome; an Isolated Fixed Dystonia: A Case Report and Review of the Literature

    No full text
    Scientific BACKGROUND: Fixed dystonia, is an immobile dystonic posture which could not return to neutral position at rest. Clenched fist syndrome, which is an isolated form of fixed dystonia of hands, could be confused with focal hand dystonia. Fixed dystonias could be seen in symptomatic dystonias (such as corticobasal degeneration, acquired basal ganglion disease), complex regional pain syndrome, and psychological movement disorder. The diagnosis of this kind of dystonias may be delayed and the treatment is difficult. OBJECTIVE: Our aim is to present a case with clenched fist syndrome, to discuss the differential diagnosis, treatment and to review of the literature. CASE: The patient is a 42-year-old woman with inability to use her right hand for 5 and left hand for 3 years. In physical examination, dorsum of the hands were oedematous, palms of the hands were macerated with a bad odour, and unguis had a dystrophic appearence. In neurologic examination, clenched fists were observed. Voluntary and forced extension of the interphalangeal and metacarpophalangeal joints were impossible. After general anesthesia, passive extension of the hands were only minimal. Cranial, spinal magnetic resonance imaging and blood chemistry were within normal limits. In needle electromyographic study dystonic discharges were not observed. Multidisciplinary approach was performed in management. CONCLUSION: In clenched fist syndrome or generally in fixed dystonias, invasive treatment modalities had to be avoided. Treatment modalities including physiotherapy, work-therapy, behavioural therapy, psychotherapy, botilinum toxin injection, medical treatment such as anticholinergics, benzodiazepine and antiepileptics should be performed by multidisciplinary approach after primary and secondary etiologies were eliminated. This means neurologist, physiotherapist, psychiatrist, dermatologist, and hand surgeon should work together when dealing such a patien

    Subklinik gluten enteropatinin serolojik tanısı: Tedaviye dirençli bir osteomalazi vakası

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    Gluten Enteropati seyrek olmayarak hafif semptom ve bulgularla seyreder. Atipik klinik bulgularla seyreden ve tedaviye dirençli osteomalazi olguları gluten enteropati açısından araştırılmalıdır. Günümüzdeki serolojik tanı metodları yüksek oranda sensitivite ve spesifiteye sahiptirler. Serolojik araştırma, klinik semptomların olmadığı ve hafif histopatolojik bulguların varlığında da önerilmektedir. Bu olgu sunumunda, biz glutensiz diyete cevap veren, subklinik gluten enteropatiye bağlı bir osteomalazi vakası bildiriyoruz.Gluten enteropathy is frequently presented with minimal symptoms and signs. Atypical clinical presentation and treatment resistant osteomalacia should be screened for gluten enteropathy. Current serologic diagnostic methods have a high sensitivity and specificity. Serologic screening is recommended even in the absence of clinical symptoms and presence of minor histopathologic findings. In this case we report a patient with treatment resistant osteomalacia due to subclinical gluten enteropathy that responded to gluten free diet

    Osteoporosis in cirrhotic patients

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    Amaç: Siroz hastalarında farklı bölgelerdeki osteoporozun saptanması, hastalık şiddeti ve süresi ile ilişkisinin belirlenmesi. Hastalar ve Yöntem: Çalışmaya siroz tanısı almış 28 hasta (13 kadın,15 erkek) dahil edildi. Lomber anteroposterior (AP) vertebra (L1-L4), sol femur (total) ve önkol bölgelerinin kemik mineral yoğunluğu (KMY) ölçümleri için dual-enerji X-ray absorpsiyometri (DEXA) cihazı kullanıldı. Sirozun şiddeti Child-Pugh skoruna göre sınıflandırıldı. Bulgular: Lomber vertebra ölçümünde erkeklerin %46,7'sinde, kadınların %23.1'inde osteoporoz mevcuttu. Femur ölçümünde erkeklerin %20'sinde kadınların ise %23.1'inde osteoporoz saptandı. Önkol KMY ölçümünde erkeklerin %50'sinde kadınların ise %33'ünde osteoporoz mevcuttu. Child-Pugh A, B ve C gruplarının KMY, T ve Z skorları ortalamaları arasında istatistiksel olarak anlamlı fark saptanmadı (p>0.05). Hastalık süresi ile vertebra (r=-0.053, p=0.790), femur (r=0.302, p=0.119) ve önkol (r=-0.236, p=0.303) Z skorları arasında istatistiksel olarak anlamlı korelasyon bulunmadı. Hastalık süresi ile vertebra (r=-0.071, p=0.721) ve femur (r=0.090, p=0.650) T skorları arasında korelasyon saptanmazken önkol (r=-0.486; p=0.025) T skoru arasında anlamlı negatif korelasyon mevcuttu. Sonuç: Bu çalışmada her iki hastadan birinde osteoporoz saptandı. Hastalıkları nedeniyle zaten sedanter yaşayan siroz hastalarında osteoporoz sonucu oluşan kırıklar hastaların immobilite düzeylerinin ve sürelerinin artmasına ve yaşam kalitelerinin bozulmasına neden olabilir. Bu nedenle siroz hastaları mutlaka osteoporoz yönünden incelenmeli, erken tanı ve tedavi ile kırıkların oluşumu önlenmelidirObjective: The aim of this study was to determine the osteoporosis at different sites in cirrhotic patients and relation of osteoporosis with duration and severity of disease. Patients and Methods: Twenty-eight patients (13 women, 15 men) with cirrhosis were included in this study. Dual-energy X-ray absorptiometry ( DEXA) was used to measure the bone mineral densities (BMD) of the lumbar spine (L1-L4), left femur (total) and forearm. The severity of cirrhosis was graded using the Child-Pugh score. Results: Osteoporosis at lumbar spine was found in 23.1% of female and 46.7% of male patients while 23.1% of females and 20% of males had osteoporosis at femur. According to forearm BMD measurements, 33% of women and 50% of men had osteoporosis. There were no significant differences between Child-Pugh class A, B and C in BMD and Z scores (p>0.05). We found no statistically significant correlation between disease duration and spine (r=-0.053, p=0.790), femur(r=0.302, p=0.119) and forearm (r=-0.236, p=0.303) Z scores. There were no statistically significant correlation between disease duration and spine (r=-0.071, p=0.721)and femur (r=0.090, p=0.650 T scores while there was a statistically significant negative correlation between disease duration and forearm T score (r=-0.486; p=0.025). Conclusion: One of two cirrhotic patients has osteoporosis in our study. Cirrhotic patients have sedantery lives due to their diseases. Osteoporotic fractures increase the duration and grade of immobilisation and diminish quality of patients lives. For this reason cirrhotic patients should be evaluated for osteoporosis thus the number of subsequent fractures may be decreased by early diagnose and interventio

    In vitro inhibition effect of some dihydroxy coumarin compounds on purified human serum paraoxonase 1 (PON1)

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    WOS: 000311310400015PubMed: 22971832Human serum paraoxonase 1 (PON1; EC 3.1.8.1) is a high-density lipoprotein associated, calcium-dependent enzyme that hydrolyses aromatic esters, organophosphates and lactones and can protect the low-density lipoprotein against oxidation. In this study, in vitro inhibition effect of some dihydroxy coumarin compounds namely 6,7-dihydroxy-3-(2-methylphenyl)-2H-chromen-2-one (A), 6,7-dihydroxy-3-(3-methylphenyl)-2H-chromen-2-one (B) and 6,7-dihydroxy-3-(4-methylphenyl)-2H-chromen-2-one (C) on purified PON1 were investigated by using paraoxon as a substrate. PON1 was purified using two-step procedures, namely ammonium sulphate precipitation and Sepharose-4B-l-tyrosine-1-naphthylamine hydrophobic interaction chromatography. The purified enzyme had a specific activity of 11.76 U/mg. The dihydroxy coumarin derivatives of A and B compounds inhibited PON1 enzyme activity in a noncompetitive inhibition manner with K (i) of 0.0080 +/- 0.256 and 0.0003 +/- 0.018 mM values, respectively. C compound exerted an uncompetitive inhibition of PON1 enzyme activity with K (i) of 0.0010 +/- 0.173 mM. Moreover, dihydroxy coumarin derivatives of A, B and C compounds were effective inhibitors on purified human serum PON1 activity with IC50 of 0.012, 0.022 and 0.003 mM values, respectively. IC50 value of unsubstituted 6,7 dihydroxy coumarin was found as 0.178 mM. The present study has demonstrated that PON1 activity is very highly sensitive to studied coumarin derivatives

    Functional outcomes of rehabilitation in ambulatory spastic cerebral palsy

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    Amaç: Ambule spastik serebral palside (SP) motor fonksiyon, enerji sarfiyatı, kas güçsüzlüğü ve rehabilitasyonunun klinik etkinliğinin objektif olarak belirlenmesi. Gereç ve Yöntem: 6-14 yaşları arasında 16 spastik diplejik SP hastası çalışmaya dahil edildi. Rehabilitasyon programı öncesi ve sonrası kaba motor fonksiyon ölçümü (KMFÖ), enerji tüketim indeksi (ETİ) ve her iki alt ekstremitenin diz fleksör ve ekstansör konsantrik kas kuvvetleri ölçüldü. KMFÖ, ETİ ve kas kuvvet parametreleri arasında anlamlı fark olup olmadığı istatistiksel olarak test edildi. Bulgular: Rehabilitasyon programı öncesi ve sonrası ölçümler arasında KMFÖ skorlarında istatistiksel olarak anlamlı artış saptandı (%89,13±7,71-%90,26±7,53 p<0,05). Ortalama ETİ değeri rehabilitasyon öncesi 1,56±1,31 atım/metre olarak tespit edildi ve program sonrası 1,42±1,12 atım/metreye düştü (p=0,052). Her iki dizin sağ (R) ve sol (L), fleksör (F) ve ekstansör (E) kas kuvveti ölçümlerinde istatistiksel olarak anlamlı artış tespit edildi; RF önce: 12,82±3,54 N-M, sonra: 15,44±6,43 N-M; LF önce: 12,51±3,39 N-M, sonra: 14,88±5,94 N-M; RE önce: 19,25±8,01 N-M, sonra: 24,38±11,42 N-M; LE önce: 19,55±7,95 N-M, sonra: 23,89±12,76 N-M (p<0,05) olarak saptandı. Sonuç: Kas kuvvetsizliği SP'nin iyi bilinen yaygın bir semptomudur. Bu çalışmada isokinetik dinamometre bize objektif bir klinik değerlendirme olanağı sağlamıştır. Spastik SP'li çocukların rehabilitasyon programları planlanırken kas kuvvetlerinin değerlendirilmesi ve kas kuvvetlendirme programlarının eklenmesi gereklidir.Objective: Objective determination of motor functions, energy expenditures, muscle weakness, and clinical effectiveness of rehabilitation program in ambulatory spastic cerebral palsy. Materials and Methods: Sixteen ambulatory spastic diplegic cerebral palsy (CP) patients aged between 6-14 years were recruited to study. Measurement of gross motor function measure (GMFM), energy expenditure index (EEI), and concentric strength of knee extensor and flexor muscle groups for both extremities were performed before and after rehabilitation program. Statistical analyses were performed to determine the significance of changes in GMFM, EEI and muscle strength parameters. Results: Statistically significant increase in GMFM score was observed between pre- and post measurements (89.13%±7.71-90.26%±7.53 p<0.05). Mean EEI was evaluated as 1.56±1.31 beat/metre, which has decreased to 1.42±1.12 beat/meter after the program (p=0.052). Muscle strength measurements of right (R) and left (L), flexor (F) and extensor (E) knee muscle groups showed significant increases; RF pre: 12.82±3.54 N-M, post: 15.44±6.43 N-M; LF pre: 12.51±3.39 N-M, post: 14.88±5.94 N-M; RE pre: 19.25±8.01 N-M, post: 24.38±11.42 N-M; LE pre: 19.55±7.95 N-M, post: 23.89±12.76 N-M (p<0.05). Conclusion: Muscle weakness is a well-known finding in spastic CP. In this study isokinetic dynamometer enabled us to determine clinical evaluation objectively. Muscle strength measurements and strengthening exercises should be included in the rehabilitation programs for children with spastic CP
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