An elderly diabetic case of ochronosis with depression and chronic pain

Alkaptonuria (ochronosis) is a rare autosomal recessive disorder featuring a genetic error in the amino acid metabolism. A defect in the tyrosine metabolism results in the accumulation and deposition of homogentisic acid in connective tissue, causing a blue-black discolouration. Degenerative arthropathy of the spine, knee, and hip are common signs of ochronosis in older age. An association between ochronosis and depression has not previously been discussed in the literature. This case report describes a 69 year-old woman with diabetes mellitus, ochronosis, depression and chronic pain. (Pol J Endocrinol 2010; 61 (6): 710-713)Alkaptoniuria (ochronoza) jest rzadką, dziedziczoną w sposób autosomalny recesywny chorobą metaboliczną, która polega na genetycznym defekcie przemiany aminokwasu, tyrozyny. Defekt ten powoduje gromadzenie się i odkładanie kwasu homogentyzynowego w tkance łącznej powodujące jej niebiesko-czarne zabarwienie. Częstymi objawami ochronozy w starszym wieku są zmiany zwyrodnieniowe stawów kręgosłupa, kolan i bioder. W bibliografii nie znaleziono opracowań dotyczących związku między ochronozą i depresją. Niniejszy opis przedstawia przypadek 69-letniej kobiety cierpiącej z powodu ochronozy, depresji i przewlekłego bólu. (Endokrynol Pol 2010; 61 (6): 710-713

DR-70: A promising biomarker for the detection of lung cancer

Objective: Lung cancer (LC) is characterized by an aggressive phenotype with a high mortality rate, early metastasis, and proliferation rate. Treatment options and prognosis differ significantly at each stage. Despite the availability of multiple imaging studies and invasive procedures, the disorder is diagnosed at an advanced stage. Therefore, it is essential to find biomarkers for the early detection of LC. Patients and Methods: Between 2018 and 2020, 73 LC and 71 control with the same demographic characteristics were included in our study. DR-70 level was measured by a photometric method in serum samples taken from all subjects. Results: A total of 144 subjects (110 male, 34 female) was included in the study. DR-70 levels in the LC group (2.53 +/- 2.64 mu g/mL) were found to be statistically significantly higher than the control group (0.56 +/- 1.23 mu g/mL). Clinical sensitivity and specificity of DR-70 for LC were found to be 87.67% and 88.73%. Conclusions: The high sensitivity and specificity of DR-70 can be used as a biomarker for rapid diagnosis in patients with LC. Compared with other tumor biomarkers, DR-70 seems to have a better sensitivity and specificity in the diagnosis of LC

The efficacy of cinacalcet in the treatment of hyperparathyroidism in Turkish hemodialysis patient population

WOS: 000393291900012OBJECTIVE: Cinacalcet reduces parathyroid hormone levels by increasing the sensitivity of the parathyroid gland to calcium. in this study, we firstly aimed to evaluate the efficacy of cinacalcet in Turkish hemodialysis patients. MATERIAL and METHODS: 4483 hemodialysis patients were screened and 469 patients who had used cinacalcet were included in the study. the patients were divided into 4 groups according to drug usage durations (Group 1: 3 months, Group 2: 6 months, Group 3: 9 months and Group 4: 12 months). the patients' Parathormone, Ca, P and CaxP levels at the 3rd, 6th, 9th and 12th months were compared to the start of treatment and previous months. RESULTS: the levels of Parathormone, Ca, P and CaxP significantly decreased compared to their initial levels in all groups (from 1412 pg/ml to 1222 pg/mL for Parathormone, p< 0,001) in the 3rd month. However, this reduction was not continued in the subsequent months (Parathormone: 1381 pg/ml for the 12th month). CONCLUSION: Cinacalcet may not provide adequate benefit in control of hyperparathyroidism in Turkish hemodialysis patient population

New Mediterranean biodiversity records (October, 2014)

The Collective Article 'New Mediterranean Biodiversity Records' of the Mediterranean Marine Science journal offers the means to publish biodiversity records in the Mediterranean Sea. The current article is divided in two parts, for records of alien and native species respectively. The new records of alien species include: the red alga Asparagopsis taxiformis (Crete and Lakonikos Gulf, Greece); the red alga Grateloupia turuturu (along the Israeli Mediterranean shore); the mantis shrimp Clorida albolitura (Gulf of Antalya, Turkey); the mud crab Dyspanopeus sayi (Mar Piccolo of Taranto, Ionian Sea); the blue crab Callinectes sapidus (Chios Island, Greece); the isopod Paracerceis sculpta (northern Aegean Sea, Greece); the sea urchin Diadema setosum (Gökova Bay, Turkey); the molluscs Smaragdia souverbiana, Murex forskoehlii, Fusinus verrucosus, Circenita callipyga, and Aplysia dactylomela (Syria); the cephalaspidean mollusc Haminoea cyanomarginata (Baia di Puolo, Massa Lubrense, Campania, southern Italy); the topmouth gudgeon Pseudorasbora parva (Civitavecchia, Tyrrhenian Sea); the fangtooth moray Enchelycore anatina (Plemmirio marine reserve, Sicily); the silver-cheeked toadfish Lagocephalus sceleratus (Saros Bay, Turkey; and Ibiza channel, Spain); the Indo-Pacific ascidian Herdmania momus in Kastelorizo Island (Greece); and the foraminiferal Clavulina multicamerata (Saronikos Gulf, Greece). The record of L. sceleratus in Spain consists the deepest (350-400m depth) record of the species in the Mediterranean Sea. The new records of native species include: first record of the ctenophore Cestum veneris in Turkish marine waters; the presence of Holothuria tubulosa and Holothuria polii in the Bay of Igoumenitsa (Greece); the first recorded sighting of the bull ray Pteromylaeus bovinus in Maltese waters; and a new record of the fish Lobotes surinamensis from Maliakos Gulf.peer-reviewe

Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

Hemodiyaliz hastalarında renal osteodistrofi ve fibroblast büyüme faktörü-23 arasındaki ilişki

Amaç: Kronik böbrek hastalığında ortaya çıkan mineral metabolizma bozuklukları ve kardiyovasküler sonlanımlar ile fibroblast büyüme faktörü-23 (FGF-23) arasındaki ilişkilere yönelik çalışmalar, günümüzde renal osteodistrofi ile FGF-23 ilişkisi konusuna da merak uyandırmıştır. Bu çalışmada kronik hemodiyaliz hasta popülasyonunda dinamik kemik biyopsisi ile değerlendirilen renal osteodistrofi bulguları ile FGF-23 arasındaki ilişkiyi araştırmak amaçlanmıştır. Yöntem: Kemik biyopsileri olan 207 prevalan hemodiyaliz hastası içerisinden plazmaları -800C derecede saklanmış 180 hastanın plazma intakt FGF-23 düzeyleri ölçüldü. Bulgular: Çalışma grubundaki hastaların ortalama yaşı 57.8 ± 14.4 yıl idi. Ortalama plazma FGF-23 düzeyi 257 ± 387 pg/ml (14.8-1297) olarak bulundu. FGF-23 düzeyi serum fosfat düzeyi (r=0.440, p<0.001), serum kalsiyum düzeyi (r=0.294, p<0.001), serum kreatinin düzeyi (r=0.302, p<0.001) ve kalsiyum-fosfat çarpanı (r=0.482, p<0.001) ile pozitif ilişkiliydi. FGF-23 düzeyi serum alkalen fosfataz düzeyi (r=-0.231, p=0.003) ile negatif ilişkili iken FGF-23 ile serum paratiroid hormon düzeyi arasında anlamlı bir ilişki saptanmadı. Hastaların %75'inde kemik biyopsisinde adinamik kemik hastalığı mevcut iken %25'inde hiperparatiroidi ilişkili kemik hastalığı mevcuttu. Her iki grup arasında plazma FGF-23 düzeyleri arasında fark saptanmadı. Plazma FGF-23 düzeyi mineralizasyon gecikme zamanı (r=-0.233, p=0.009), osteoid yüzey alanı (r=-0.183, p=0.01) ve osteoid kalınlığı (r=-0.150, p=0.04) ile negatif ilişkili bulundu. Ancak çoklu lineer analizde FGF-23 ile bu parametreler arasında bağımsız ilişki saptanmadı. Sonuç: Her ne kadar yüksek FGF-23 düzeyleri kemik mineralizasyon parametrelerinde düzelme ile ilişkili olsa da bağımsız bir ilişkinin olmaması FGF-23'ün renal osteodistrofi patogenezinde tek başına etkili olmadığını düşündürmüştür. FGF-23, fosfat, kalsiyum, D vitamini, paratiroid hormon gibi parametrelerin birbirleriyle etkileşimleri de göz önüne alındığında renal osteodistrofi patogenezinin daha karmaşık olduğu öngörülebilir

Nefroloji Pratiğinde Plazmaferezin Kullanımı

Plasma exchange (plasmapheresis) is a treatment method based on separating the plasma, one of the 4 components, from whole blood removed from the body and giving the remaining part back to the circulation with replacement fluid. The place of plasmapheresis in the management of kidney disease is often controversial. In this Article, we aimed to review the use of plasmapheresis in nephrology practice.Plasmapheresis treatment can be used in Goodpasture's disease, small vessel vasculitis (crescentic glomerulonephritis), acute renal failure due to multiple myeloma, paraproteinemia or hyperviscosity syndrome, some cases of systemic lupus erythematosus, adult HUS, and acute humoral rejection in renal transplantation patients in nephrology practice together with other treatmentsPlazma değişimi (plasma exchange, plazmaferez) işlemi, kanın vücut dışına alınarak 4 birleşeninden biri olan plazmanın kandan ayrıştırılıp geri kalan kısmın replasman sıvısı ile tekrar dolaşıma verilmesi temeline dayanan bir tedavi yöntemidir. Böbrek hastalıklarının yönetiminde plazmaferezin yeri, çoğunlukla tartışmalıdır. Bu yazıda, plazmaferezin nefrolojik pratikte kullanımının gözden geçirilmesi amaçlanmıştır. Plazmaferez tedavisi nefroloji pratiğinde Goodpasture Hastalığı, küçük damar vasküliti (kresentik glomerülonefrit), multipl miyeloma bağlı akut böbrek yetmezliği, paraproteinemi veya hiperviskosite sendromu, sistemik lupus eritematozlu bazı olgular, erişkin hemolitik üremik sendrom ve böbrek nakilli hastalarda akut humoral rejeksiyon gibi bazı durumlarda diğer tedavilere ek olarak uygulanabili

Use of Plasmapheresis in Nephrology Practice

WOS: 000374928400002Plasma exchange (plasmapheresis) is a treatment method based on separating the plasma, one of the 4 components, from whole blood removed from the body and giving the remaining part back to the circulation with replacement fluid. The place of plasmapheresis in the management of kidney disease is often controversial. In this article, we aimed to review the use of plasmapheresis in nephrology practice. Plasmapheresis treatment can be used in Goodpasture's disease, small vessel vasculitis (crescentic glomerulonephritis), acute renal failure due to multiple myeloma, paraproteinemia or hyperviscosity syndrome, some cases of systemic lupus erythematosus, adult HUS, and acute humoral rejection in renal transplantation patients in nephrology practice together with other treatments