69 research outputs found
Tiyokalkon ile sübstitüe edilmiş metalli ftalosiyaninlerin sentezi ve karakterizasyonu
06.03.2018 tarihli ve 30352 sayılı Resmi Gazetede yayımlanan “Yükseköğretim Kanunu İle Bazı Kanun Ve Kanun Hükmünde Kararnamelerde Değişiklik Yapılması Hakkında Kanun” ile 18.06.2018 tarihli “Lisansüstü Tezlerin Elektronik Ortamda Toplanması, Düzenlenmesi ve Erişime Açılmasına İlişkin Yönerge” gereğince tam metin erişime açılmıştır.Periferal poziyonlar için metalli fitalosiyaninlere bağlı olarak kullanmak için Kalkon,(E)-3-(4-hydroxyphenyl)-1-(thiophen-2-yl)prop-2-en-1-one, sentezlendi. Bu yüzden değişik metalli fitalosiyaninler dizayn edildi ve sentezlendi. FT-IR, 1H-NMR, 13C-NMR veUV–Visible spektroskopik teknikler kullanarak tüm moleküllerin karakterize edildi. Tiyokalkon ile periferal konumlardan türevlendirilerek sentezlenmiş çinko, kobalt(II) ve Nikel(II) ftalosiyaninler diklorometan, kloroform, etilasetat ve THF gibi yaygın olarak kullanılan organik çözücülerde iyi çözünmektedirler.The chalcone, (E)-3-(4-hydroxyphenyl)-1-(thiophen-2-yl)prop-2-en-1-one, was synthesized and then used as attached tometallophthalocyanines on the four of the peripheral positions. So novel metallophthalocyanines (M = Zn, Co and Ni) were designed and synthesized. FT-IR, 1H-NMR, 13C-NMR and UV–Vis spectroscopytechniques were utilized to characterization of all molecules. Synthesized zinc, cobalt (II) and nickel (II) phthalocyanines by being derivatized from thichalcones on their peripheral sites are well soluble in commonly used organic solvents such as dichloromethane, chloroform, ethylacetate and THF
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum. Moreover, this is the first study to present newborn screening findings and mid-term clinical outcome. In this cross-sectional study, patients with a diagnosis of BCKDK deficiency were recruited via investigators’ practices through a MetabERN initiative. Clinical, biochemical and genetic data were collected. Dried blood spot (DBS) newborn screening (NBS) amino acid profiles were retrieved from collaborating centres and compared to a healthy newborn reference population. Twenty-one patients with BCKDK mutations were included from 13 families. Patients were diagnosed between 8 months and 16 years (mean: 5.8 years, 43% female). At diagnosis, BCAA levels (leucine, valine and isoleucine) were below reference values in plasma and in CSF. All patients had global neurodevelopmental delay; 18/21 had gross motor function (GMF) impairment with GMF III or worse in 5/18, 16/16 intellectual disability, 17/17 language impairment, 12/17 autism spectrum disorder, 9/21 epilepsy, 12/15 clumsiness, 3/21 had sensorineural hearing loss and 4/20 feeding difficulties. No microcephaly was observed at birth, but 17/20 developed microcephaly during follow-up. Regression was reported in six patients. Movement disorder was observed in 3/21 patients: hyperkinetic movements (1), truncal ataxia (1) and dystonia (2). After treatment with a high-protein diet (≥ 2 g/kg/day) and BCAA supplementation (100–250 mg/kg/day), plasma BCAA increased significantly (P < 0.001), motor functions and head circumference stabilized/ improved in 13/13 and in 11/15 patients, respectively. Among cases with follow-up data, none of the three patients starting treatment before 2 years of age developed autism at follow-up. The patient with the earliest age of treatment initiation (8 months) showed normal development at 3 years of age. NBS in DBS identified BCAA levels significantly lower than those of the normal population. This work highlights the potential benefits of dietetic treatment, in particular early introduction of BCAA. Therefore, it is of utmost importance to increase awareness about this treatable disease and consider it as a candidate for early detection by NBS programmes.A.G.C. is supported by FIS P118/00111, FI21/0073 ‘Instituto de Salud
Carlos III (ISCIII)’ and ‘Fondo Europeo de desarrollo regional
(FEDER)’
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in patients with inherited disorders of biogenic amine metabolism. Twenty-six individuals had LRHP or abnormal pituitary findings on MRI. Tetrahydrobiopterin deficiencies were the most common diagnoses (n = 22). The median age at diagnosis of LRHP was 16 years (range: 2.5-30, 1st-3rd quartiles: 12.25-17 years). Twelve individuals (nine females) had symptoms attributed to hyperprolactinemia: menstruation-related abnormalities (n = 7), pubertal delay or arrest (n = 5), galactorrhea (n = 3), and decreased sexual functions (n = 2). MRI of the pituitary gland was obtained in 21 individuals; six had heterogeneity/hyperplasia of the gland, five had adenoma, and 10 had normal findings. Eleven individuals were treated with the dopamine agonist cabergoline, ameliorating the hyperprolactinemia-related symptoms in all those assessed. Routine monitoring of these symptoms together with prolactin concentrations, especially after the first decade of life, should be taken into consideration during follow-up evaluations. The potential of slow-release levodopa formulations and low-dose dopamine agonists as part of first-line therapy in the prevention and treatment of hyperprolactinemia should be investigated further in animal studies and human trials. This work adds hyperprolactinemia-related findings to the current knowledge of the phenotypic spectrum of inherited disorders of biogenic amine metabolism
Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency
Background: Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological
and dermatological complications. Biomarkers such as
alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH), which are used to diagnose biotinidase
deficiency, are also present.
Materials and methods: In cases with partial biotinidase
deficiency and normal biotinidase activity, alanine, C3
and C5-OH levels were compared in the field by liquid
chromatography-tandem mass spectrometry.
Results: There was no significant difference between
subjects with partial biotinidase deficiency and those
with normal biotinidase activity between C3 and C5-OH
levels. The mean alanine levels in heel blood and plasma
were significantly higher than those with normal biotinidase activity in patients with partial biotinidase
deficiency.
Conclusion: In cases with partial biotinidase deficiency,
the heel blood alanine level that can be detected in the
neonatal screening program may be a leading marker in
diagnosis
Evaluation of Patients Diagnosed with Nutritional Rickets: A Single Center Study
Objective: Nutritional rickets continues to be an important health care problem. Its incidence has decreased in our country following the free vitamin D distribution that started in 2005 but it continues to stay on the agenda as a preventable disorder. Our aim was to evaluate patients diagnosed with nutritional rickets following the vitamin D supplementation program. Material and Methods: A total of 93 cases diagnosed with nutritional rickets were included in the study. The data were retrospectively collected from patient records and laboratory analyses. results: The 93 nutritional rickets patients we evaluated consisted of 39 (41%) girls and 54 (59%) boys. The mean age was 19.1±35.1 months. The physical examination usually revealed widening of the wrists and rachitic beads. The most common sign at presentation was hypocalcemic seizure (28%, n= 26). Hypocalcemia was present in 46% (n= 43) and single large doses of vitamin D (stoss) therapy had been administered to 53% (n= 49). A concurrent disorder was present in 46%. The patients had presented mostly in February and May and only 20% had been receiving vitamin D supplementation. conclusion: The 400 IU vitamin D supplementation dose needs to be revised and the program made more widely available
Evaluation of Echocardiographic Findings of Mucopolysaccharidosis Cases
Objective: Mucopolysaccharidosis (MPS) is a lysosomal storage disease in which the degradation of glycosaminoglycans is impaired. Cardiac involvement may occur in different ways in all types of the disease. In this study, we aimed to evaluate the echocardiographic reports of our patients with MPS retrospectively. Methods: Echocardiography reports of 37 patients with MPS were reviewed retrospectively. Results: Cardiac involvement was present in 70.2% our patients and the most commonly involved structure was mitral valve (59.5%). The most common pathology in mitral valve was mitral valve regurgitation (51.4%). Conclusion: Cardiac involvement and complications are frequently seen in MPS. Heart failure, coronary artery involvement and arrhythmias are the main causes of death. Early diagnosis of MPS and early initiation of enzyme replacement therapy may improve cardiac involvement. Progressive valve involvement may require surgical intervention over time. For all these reasons, cardiac evaluation in MPS patients should be performed at least once a year with accompanying electrocardiogram and echocardiography
Kronik Hastalığı Olan Çocuk ve Adölesanlarda Vitamin D Eksiklik/Yetersizliği
Objective: The effect of vitamin D on bone metabolism is well known. It has recently been shown to be also associatedwith cardiovascular diseases, obesity, infections, autoimmunity, and cancer. The aim of our study was to evaluatevitamin D deficiency in childhood chronic diseases.Material and Methods: A total of 438 cases followed-up for vitamin D deficiency/insufficiency (25 OHD level < 30 ng/mL) in our clinic between 2005 and 2011 and who had an additional chronic disorder were evaluated retrospectively.Results: The mean age of the cases was 12.8±4.6 years and the female/male ratio 1.29 Accompanying disordersincluded diabetes mellitus, obesity, Turner syndrome, congenital adrenal hyperplasia, myopathy, autoimmune andrheumatic diseases, central nervous system diseases and malignancies. The vitamin D deficiency/insufficiency incidenceranged between 62.5 and 95.0% in the children/adolescents with chronic disease. The mean 25 OHD level was 17±6.6ng/ml. Hypocalcemia or a similar ion imbalance was not found in any group.Conclusion: Considering the multisystemic effects of vitamin D, 25 OHD levels should be monitored in chronic diseasesin childhood and supplementation provided if necessary. This may lead to an improvement in the course of the underlyingdisease as well.Key Words: Adolescence, Children, Chronic disease, Vitamin D deficienc
Sepsis Tablosunda Gelen Yağ Asidi Oksidasyon Bozukluğu
Metabolik hastalıklar neden oldukları belirti ve bulgularla diğer çocukluk çağı hastalıklarıyla karışabilmektedir. Başvuru bulgularının sepsisi düşündürdüğü durumlarda ayırıcı tanıda metabolik hastalıkların da düşünülmesine dikkat çekmek için bu vakanın sunulması amaçlanmıştır. Acil polikliniğimize ateş, ishal ve emmede azalma nedeniyle getirilen 2 aylık kız hastanın sepsise yönelik tedavisi başlandı. Yüklii aile öyküsü olması nedeniyle gönderilen doğumsal metabolik hastalık tarama tetkikleri çok uzun zincirli yağ asidi oksidasyon bozukluğu ile uyumluydu. Sonuç olarak, yineleyen kusma atakları, septik görünüm, aile öyküsü ve sağlıklı görünen bir bebekte ani gelişen klinik bozulmada metabolik hastalıklar ayırıcı tanılar arasında yer almalıdır
Tashayyu’ for Fuzûlî
Türk edebiyatının önemli isimlerinden biri olan Fuzûlî’nin hayatına dair bilgiler çok azdır. Onun doğum yeri, hangi ırka mensup olduğu ve mezhebinin ne olduğunu edebiyat araştırmacıları tespit etmeye çalışmıştır. Bu çalışmaların neticesinde ortaya çıkan sonuçlar farklılık arz etmektedir. Biz de bu araştırmamızda Fuzûlî’nin eserlerinden hareketle mezhebini tespit etmeye çalıştık. Bu çalışmanın amacı Fuzûlî’nin mezhebine dair görüşlerden yola çıkarak şairin mezhebinin ne olduğunu Şia- Tasavvuf ilişkisi ve Ehl-i beyt sevgisi üzerinden bir değerlendirmeyle ortaya koymaktır. Birinci bölümde Fuzûlî’nin hayatı, yaşadığı dönem ve çevre çalışılmıştır. İkinci bölümde teşeyyu’ kavramı işlenmiş ve Tasavvuf ve Şia’da benzer olan unsurlar değerlendirilmiştir. Üçüncü bölüm, Fuzûlî’nin mezhebiyle alakalı araştırma yapanların görüşleri ve onun Şiî olduğu yönünde delil getirilen eserleri, yaşadığı coğrafya ile ilgili araştırmaları, Şiîlik isnat edilen bazı şahsiyetleri barındırmaktadır.Fuzûlî who is one of the most important figures of Turkish Literature, is very little known about personal life. Literature researchers tried to confirm his birthplace and date which race he belongs to and what his sect is. The results of this resach differ. In this study, we tried to confirm his sect through his works. The aim of this study is to state what the poet’s sect is, the relation between mysticism and Shia and evaluating the love Ahl-ı Bayt through the opinions of him about his sect. In the first part; Fuzûlî’s life, the period of him and the area he lived in were studied. In the second part the concept of tashayyu’ was studied and the facts which are similar to Shia and mysticism were evaluated. The third part involves the thoughts of the rearchers who searched about Fuzûlî’s sect and the works which give proofs that he was Shia, the rearchers of his area and some figures attribute tho Shia
A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT
Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In clinical practice, patients may be asymptomatic, or may present with hypoglycemic convulsions, short stature, growth retardation, osteopenia, and rarely symptoms of hyperglycemia. In this article, we present a 6-year-old girl with previous symptoms of hypoglycaemia, and symptoms of hyperglycemia at the time of admission and genetically diagnosed as glycogen storage disease type 0A
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