The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Prostate metastasis of malignant melanoma

Metastatic malignant melanoma of the prostate is extremely rare in clinical practice, and only one case has been reported in the English literature in the past 30 years. We report a case of malignant melanoma that metastasized to the prostate and review the current literature. A 50-year-old man with a history of malignant melanoma metastasis to the left axilla, which was excised 3 years ago, presented with lower urinary tract symptoms and gross hematuria. He underwent cystoscopy and transurethral resection of the prostate. The pathological examination showed metastatic malignant melanoma of the prostate gland. The patient died 6 months after the transurethral resection

Perineal üretroplastide suprapubik sistoskopi kullanımı

Objective: Posterior urethral strictures are difficult cases to treat for urologists. Anastomotic open urethroplasty is the major surgical treatment option, and various modifications/manipulations to the procedure have been recommended in the literature. We aimed to assess the advantages of performing antegrade endoscopy through the suprapubic cystostomy tract during perineal urethroplasty. Material and methods: Thirty-six perineal urethroplasties combined with suprapubic cystoscopy were performed in 33 adult male patients between 2005 and 2011. Pre-and peri-operative records of the patients were evaluated, with a particular focus on suprapubic cystoscopy findings during urethroplasty. Results: The mean patient age was 41 years, and the mean lesion length was 2.6 cm (range 1-10 cm). Lesions were secondary to pelvic trauma in 21 patients, to a history of prostatic surgery in 8 patients, and to other miscellaneous causes in the 4 remaining patients. In 23 cases with normal bladder necks, the anastomosis was created under the guidance of antegrade cystoscopy with fluoroscopy. In 10 cases, stiff guide wires or paddles were used in addition to endoscopic light to identify the correct anastomosis site. In two procedures, fistula openings were identified during endoscopy, and fistula repair was performed along with anastomosis. In one case involving the longest lesion with involvement of the bladder neck, a combined perineal-transpubic urethroplasty was performed. The mean follow up duration was 19 (3-38) months. The overall success rate was 91%, and the re-operation rate was 9%. Conclusion: Suprapubic cystoscopy is an easy-to-perform adjunctive modality in perineal urethroplasty. This method provides the benefits of supplementary endoscopic findings and feasibility of certain maneuvers that facilitate debridement and anastomosis formation concurrent with perineal urethroplasty.Amaç: Posterior üretra darlıkları ürologlar için tedavisi zor olgular arasında yer almaktadır. Cerrahi tedavide temel seçenek olan anastomotik açık uretroplasti için literatürde çeşitli manuplasyonlar ve modifikasyonlar tanımlanmıştır. Bu çalışmada perineal uretroplasti sırasında suprapubik sistostomi traktından uygulanan antegrad endoskopinin avantajlarını değerlendirmeyi amaçladık. Gereç ve yöntemler: 2005-2011 yılları arasında toplam 36 seans suprapubik sistoskopi yardımlı perineal uretroplasti operasyonu uygulanan 33 yetişkin erkek hastanın, özellikle uretroplasti sırasındaki sistoskopik bulgular başta olmak üzere, operatif verileri incelendi. Bulgular: Hastaların ortalama yaşı 41 yıl ve lezyon uzunluğu 2,6 (1-10) cm idi. Etyolojik faktör olarak 21 hastada travma, 8 hastada prostat cerrahisi, ve 4 hastada diğer nedenler saptandı. Yirmi üç olguda mesane boynu normaldi ve antegrad sistoskopun ışığı kılavuzluğunda anastomoz gerçekleştirildi. On olguda doğru anastomoz hattını saptamak için, ilaveten, sert kılavuz tellerden ve iğnelerden yararlanıldı. İki olguda endoskopi sırasında fistül saptandı ve anastomoza ilave olarak fistül onarımı uygulandı. Mesane boynunu da kapsayacak şekilde, en uzun darlığa sahip olan 1 olguda combine perineal-transpubik onarım uygulandı. Hastaların ortalama takip süresi 19 (3-38) ay idi. Genel başarı oranı %91 ve re-operasyon oranı %9 idi. Sonuç: Suprapubik sistoskopi perineal uretroplasti sırasında yararlanılabilecek kolaylıkla uygulanabilen bir yardımcı yöntemdir. Bu yöntem perineal uretroplasti sırasında debridman ve anastomoz safhalarını kolaylaştıracak destekleyici endoskopik bulgular sağlaması ve çeşitli manevralara imkan tanıması açısından avantaj sağlar

The use of suprapubic cystoscopy in perineal urethroplasty

OBJECTIVE: Posterior urethral strictures are difficult cases to treat for urologists. Anastomotic open urethroplasty is the major surgical treatment option, and various modifications/manipulations to the procedure have been recommended in the literature. We aimed to assess the advantages of performing antegrade endoscopy through the suprapubic cystostomy tract during perineal urethroplasty. MATERIAL AND METHODS: Thirty-six perineal urethroplasties combined with suprapubic cystoscopy were performed in 33 adult male patients between 2005 and 2011. Pre-and peri-operative records of the patients were evaluated, with a particular focus on suprapubic cystoscopy findings during urethroplasty. RESULTS: The mean patient age was 41 years, and the mean lesion length was 2.6 cm (range 1–10 cm). Lesions were secondary to pelvic trauma in 21 patients, to a history of prostatic surgery in 8 patients, and to other miscellaneous causes in the 4 remaining patients. In 23 cases with normal bladder necks, the anastomosis was created under the guidance of antegrade cystoscopy with fluoroscopy. In 10 cases, stiff guide wires or paddles were used in addition to endoscopic light to identify the correct anastomosis site. In two procedures, fistula openings were identified during endoscopy, and fistula repair was performed along with anastomosis. In one case involving the longest lesion with involvement of the bladder neck, a combined perineal-transpubic urethroplasty was performed. The mean follow up duration was 19 (3–38) months. The overall success rate was 91%, and the re-operation rate was 9%. CONCLUSION: Suprapubic cystoscopy is an easy-to-perform adjunctive modality in perineal urethroplasty. This method provides the benefits of supplementary endoscopic findings and feasibility of certain maneuvers that facilitate debridement and anastomosis formation concurrent with perineal urethroplasty

Renal Cell Carcinoma in A Patient with Kartagener Syndrome: First Case Report in English Language

Cardiac and pulmonary anomalies are common among patients with situs inversus totalis. Renal anomalies, including renal agenesis, dysplasia, hypoplasia, ectopia, polycystic kidney, and horseshoe kidney have been reported. We report a case of renal cell carcinoma in a patient with situs inversus totalis (SIT). Our case represents the fourth case report of renal cell carcinoma in a patient with situs inversus totalis and to the best of our knowledge this is the first report in English language. Due to the higher frequency of cardiac, pulmonary, renal, and vascular anomalies the management of patients with situs inversus and urologic disease requires careful preoperative evaluation

Glandüler ve yağ dokusu alınarak meme küçültme cerrahisi uygulanan hastalarda mamografi duyarlılığının karşılaştırılması

WOS:000370846200004PubMed ID: 26170752Amaç: Meme küçültme cerrahisi geçiren kadınların meme kanseri teşhis ve taramasında mamografinin bazı sınırlılıkları vardır. Bu çalışmada postoperatif değişikliğe bağlı meme dokusunda gelişen yapısal bozuklukların mamografiye nasıl yansıdığını araştırmayı amaçladık.Gereç ve Yöntemler: Meme küçültme operasyonu geçiren ve genel cerrahi kliniği tarafından meme kanseri taraması amacıyla mamografi çekilmesi istenen hastaların dosyaları retrospektif olarak incelendi. Hastaların yaş, cerrahi işlem, postoperatif takip süresi, çıkarılan doku miktarı, histopatolojik ve mamografik bulguları değerlendirildi. Hastalar 3 grupta incelendi: 40 yaş üzerinde glandüler doku ağırlıklı redüksiyon mammoplasti uygulanan (1. grup), 40 yaş altında yağ dokusu ağırlıklı redüksiyon mammoplasti uygulanan (2. grup) ve 40 yaş üstünde meme hipertrofisi tanısı almış ve opere edilmeyen (3. grup) hastalardan oluşmaktadır.Bulgular: Hastaların ortalama takip süresi 6 yıldı. Çıkarılan ortalama doku miktarı 1. grupta 1120 gr (6802070), 2. grupta 1220 gr idi. Ameliyat yaş ortalaması 1. grupta 45 , 2. grupta 35 idi. Histopatolojik incelemede tüm gruplar benigndi. Birinci grup hastaların tamamı BIRADS 1-2, 2. grup hastaların 28'i BIRADS 1-2, 4'ü BIRADS 3 ve 8'i BIRADS 0 idi. Üçüncü grup hastaların 35'i BIRADS 1-2, 4'ü BIRADS 3 ve 1'i BIRADS 0'dı.Sonuç: Kırk yaş üzeri hastalarda glandüler doku ağırlıklı meme küçültme cerrahisi uygulanmasının mamografi duyarlılığını artırdığı kanısındayızObjective: Mammography may have some limitations in the diagnosis and screening of breast cancer for women who have previously undergone breast reduction surgery. This study aimed to investigate how the structural defects in the breast tissue formed by postoperative changes are reflected on mammography.Material and Methods: The records of patients who had previously undergone breast reduction surgery and who were requested to undergo mammography for breast cancer screening by the general surgery clinic were retrospectively studied. The patients' ages, surgical procedures, postoperative follow-up periods, amount of removed material, and histopathological and mammographic results were studied. The patients were classified into 3 groups: those older than 40 years who underwent reduction mammoplasty targeting predominantly the glandular tissue (group 1), those younger than 40 years who underwent reduction mammoplasty targeting predominantly the fat tissue (group 2), and those older than 40 years who were diagnosed with breast hypertrophy and were not operated (group 3).Results: The mean follow-up period of the patients was 6 years. The mean value of resected tissue was 1120 g in group 1 and 1220 g in group 2. The mean age at the time of surgery was 45 years for group 1 and 35 years for group 2. All patients in group 1 were classified in Breast Imaging-Reporting and Data System (BI-RADS) category 1-2; 28 patients in group 2 were classified in BI-RADS 1-2, 4 were classified in BI-RADS 3, and 8 were classified in BI-RADS 0. In group 3, 35 patients were classified in BI-RADS 1-2, 4 were classified in BI-RADS 3, and 1 was classified in BI-RADS 0.Conclusion: We believe that breast reduction surgery targeting predominantly the glandular tissue in patients older than 40 years increases mammographic sensitivit

Evaluation of renal function in children with Wilson’s disease

Giriş: Bu çalışmada Wilson hastalığında (WH) böbrek fonksiyonlarının üriner N-Asetil-β-D-glukozaminidaz (NAG) ve NAG/kreatinin aktivite indeksi kullanılarak değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: WH tanısı alan 20 hasta çalışma grubu, benzer yaş ve cinsiyette olan 37 sağlıklı çocuk kontrol grubu olarak alındı. NAG düzeyleri mlU/L olarak hesaplanırken, NAG aktivite indeksi mlU/mg kreatinin olarak belirlendi. Bulgular: Toplam dört hasta (%20) tanı anında asemptomatik iken; sırasıyla kronik hepatit, nörolojik WH, fulminan hepatit ve akut hepatit ise altı (%30), beş (%25), üç (%15) ve iki (%10) hastada saptandı. Çalışma anında toplam 13 hasta (%65) trientin ve çinko tedavisi alırken, yedi (%35) hasta ise D-penisilamin ve çinko tedavileri almaktaydı. Olguların 10’unda (%50) proteinüri, birinde (%5) glikozüri ve bir hastada (%5) mikroskopik hematüri saptandı. Hasta grubunun idrar sodyumu ve kreatinini kontrol grubundan anlamlı olarak düşük iken (p=0,048 ve p=0,001), NAG ve NAG indeks anlamlı olarak daha yüksek saptandı (p=0,049 ve p=0,03). Klinik başvuru şeklinin bu parametreler üzerinde etkili olmadığı gözlendi (p>0,05). İdrar kreatinini trientin alanlarda anlamlı olarak yüksek bulundu (p=0,004). Child-Pugh skoru ile bu parametreler arasında herhangi bir ilişki saptanmadı (p>0,05). Sonuç: Bu çalışmada; WH’li çocuklarda WH’nin kendisinin ve/veya kullanılan ilaçların böbrek fonksiyonları üzerine olumsuz etkisinin olduğu, karaciğer hasarının ciddiyeti ve klinik özelliklerin etkisinin olmadığı görülmüştür.Introduction: In this study it was aimed to evaluate the renal functions in Wilson’s disease (WD) using urinary N-acetyl-β-D-glucosaminidase (NAG) and NAG/ creatinine activity index. Materials and Methods: Twenty children of similar age and gender with WD were determined to be the patient group and 37 healthy children were determined to be the control group for the study. NAG levels were calculated as mlU/L and NAG activity index was determined as mlU/mg. Results: While four (20%) patients were asymptomatic at diagnosis, chronic hepatitis, neurologic WD, fulminant hepatitis, and acute hepatitis were observed in six (30%), five (25%), three (15%), and two (10%) patients, respectively. Of children, 13 (65%) were on trientine and zinc treatment and seven (35%) were on d-penicillamine and zinc. Ten (50%) children had proteinuria, one (5%) had glycosuria, and one (5%) had microscopic hematuria. While mean urine sodium and creatinine levels were significantly lower compared to controls (p=0.048 and p=0.001, respectively), NAG and NAG index were significantly higher (p=0.049 and p=0.03). Clinical presentation was observed to be not effective on those parameters (p>0.05). No relationship was found between Child-Pugh score and these parameters (p>0.05). Conclusions: It was concluded that while WD itself and/or the drugs that are used for the treatment have negative effects on renal functions for children with WD, however it does not have any effect on the liver damage severity and clinical presentation of the disease

The incidence of renal oncocytoma in renal tumours and the location of imaging for indication of fine needle aspiration biopsy in diagnosis

Amaç: Böbrek tümörü nedeniyle tedavi edilen hastalar içerisinde renal onksitom sıklığını ve tanı için görüntüleme yöntemlerinin ince iğne aspirasyon biyopsisi indikasyonundaki yerini araştırdık. Gereç ve Yöntemler: Hastanemizde 2005 ile 2011 yılları arasında böbrek tümörü nedeniyle radikal nefrektomi veya nefron koruyucu cerrahi uygulanan 420 hasta retrospektif olarak incelendi. Renal onkositom saptanan hastalar radyolojik bulgu ve semptom varlığı, bu hastalara uygulanan tedaviler ve ince iğne aspirasyon biyopsisi ile böbrek biyopsisi uygulanabilirliği açısından değerlendirildi. Bulgular: Renal onkositom sıklığı %2.8 olarak tespit edildi. Bu hastaların 7’sinde (%58) radyolojik bulgu izlendi. Hastaların 8’i (%67) tanı anında semptomatikti. 2 hastaya (%17) nefron koruyucu cerrahi, 10 hastaya (%83) ise radikal nefrektomi uygulandı. Sonuç: Renal onkositom sıklığı literatür ile uyumlu bulundu. Radyolojik bulgusu olan veya benin-malin ayrımı yapılamayan hastalarda ince iğne aspirasyon biyopsisi veya böbrek biyopsisi yapılmasının gereksiz radikal cerrahileri engelleyeceği kanaatindeyiz.Objective: We’ve investigated the incidence of renal oncocytoma in patients with renal tumour who underwent surgery and the location of imaging for indication of fine needle aspiration biopsy in diagnosis. Material and Methods: 420 patients who underwent radical nephrectomy or nephron sparing surgery between 2005 and 2011 in our hospital were evaluated retrospectively. Patients who diagnosed Renal Oncocytoma (RO) were determined in terms of presence of symptoms and radiological signs, treatment modalities and applicability of fine needle aspiration biopsy or renal biopsy. Results: The incidence of renal oncocytoma was 2.8% and in 7 patients (58%) who diagnosed renal oncocytoma had radiological signs. 8 patients (67%) were symptomatic at the time of diagnosis. 2 patients (17%) were treated with radical nephrectomy while 10 patients (83%) with nephron sparing surgery. Conclusion: The incidence of renal oncocytoma was consistent with the literature. We believe that performing fine needle aspiration biopsy or renal biopsy in patients who have radiological signs or difficulty in differentiation between benign and malignant will prevent unnecessary radical surgeries

Radical retropubic prostatectomy: Which tissues come with prostate?

Giriş: Radikal retropubik prostatektomi (RRP) spesmeni üzerinde bulunan dokuları histolojik açıdan değerlendirmek. Gereç ve Yöntemler: Kliniğimizde tek cerrahın serisi olarak 30 RRP yapıldı. Patolojik spesmenler apeksten tabana doğru dilimlendi. Bir adet apeksten, iki adet orta prostattan ve 1 adet tabandan olmak üzere 4 adet dilim seçildi. Dilimler transvers planda üretra ortada kalacak şekilde 4 kadrana ayrıldı. Kadranlar, yüzeyel kısımlarında bulunan ve prostatın güncel anatomik ve histolojik bilgileri ışığında belirlenmiş 7 parametre; “Dorsal venöz kompleks (DVC)”, “Çizgili kas (Rabdosfinkter)”, “Periprostatik fasiyal doku (PPFD)”, “Damar sinir paketi”, “Mesane boynu düz kas lifleri”, “Cerrahi sınır” ve “Kapsüler insizyon” yönüyle histolojik olarak araştırıldı. Bulgular: Apekste DVC tüm spesmenlerde gözlenirken çizgili kas 28 (%93,3) hastada ve özellikle prostatın ön yüzünde gözlendi. PPFD prostatın arka yüzünde ağırlıklı olmak üzere spesmenlerin hepsinde gözlendi. Damar sinir paketi 23 (%76,6) hastada gözlenmekle birlikte prostatın posterior yüzünde daha fazlaydı. Prostatın taban kesitlerinde spesmenlerin tümünde düz kas yapıları vardı. Cerrahi sınır pozitifliği 9 (%30) hastada gözlenmekle birlikte bunların 7 tanesi apekste idi. Kapsüler insizyon 9 (%30) hastada pozitifti. Sonuç: Bu çalışmada RRP ameliyatı sonucunda elde edilen prostatektomi materyalinin üzerinde hangi dokuların bulunduğu kantitatif olarak gösterilmiş oldu. Bu bulguların hem prostat anatomisi hem de prostatın cerrahisi açısından yeni fikirler doğurabileceğini düşünmekteyiz.Objective: Histological evaluation of tissues found on specimens of radical retropubic prostatectomy (RRP). Material and Methods: A single surgeon’s series of 30 RRP specimens were evaluated. The RRP specimens were dissected from apex to basis. The following slices were dissected: 1 from the Apex, 2 from the center of the prostate, and 1 from the basis. Tissue surrounding these slices were histologically evaluated working from the following 7 parameters determined in light of latest anatomical and pathological insight on the prostate: “Dorsal venous complex (DVC)”, “Striated muscle (Rhabdosphincter)”, “Periprostatic fascial tissue (PPFT)”, “Neurovascular bundle (NVB)”, “Bladder neck smooth muscle”, “Surgical margins” and “Capsular incision”. Results: Whilst DVC was found whole in the dissected apex slices, muscle striation was found with 28 (93.3%) of the patients. PPFT within central prostate sections was found with all of the patients, predominantly within posterior quadrants. Again within central prostate sections NVB was found with 23 (76.6%) of the patients, predominantly within posterior quadrants. All basis slices were found to have bladder neck smooth muscle. Surgical margin positivity was found with 9 (30%) of the patients, 7 of them were in the apex. Capsular incision was found with 9 (30%) of the patients. Conclusion: A quantitative report of the extent to which other anatomical structures are extracted when removing the prostate employing the RRP technique, were provided with this study. We think that, these findings might provide new ideas about prostate anatomy as well as radical prostatectomy surgery techniques

Therapeutic plasma exchange in neurological diseases: Eleven years experience at a tertiary care center in Turkey

Therapeutic plasma exchange (TPE) is an apheresis procedure in which plasma is separated from the blood cellular components ex vivo, allocated, and replaced with another plasma or a plasma-replacing fluid. This study aimed to define the rate of complications and determine TPE distribution in various neurological diseases. Our study is a retrospective analysis of neurologic diseases requiring TPE between 2008 and 2019 that were selected using the medical records of neurology departments and apheresis units database. We performed 1459 TPE procedures on 207 patients between 2008 and 2019. TPE Procedure is most frequently applied in patients with Myasthenia-Gravis syndrome (34.7%). The complication ratio was 1.6% from a total of 1459 TPE procedures. The most commonly specified adverse event was allergic reactions 11 (5.3%), followed by hypotension 6 (2.9%). TPE was safe and tolerable, with manageable complications in experienced hands