Person: CESUR, YAŞAR
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Publication Metadata only Ürik asit düşüklüğünden hareket edilerek tanı konulan geç başlangıçlı bir molibden kofaktör eksikliği vakası(2013-05-04) CESUR, YAŞAR; ÖZGEN, İLKER TOLGA; PEMBEGÜL YILDIZ, EDİBE; NURSOY, MUSTAFA ATİLLA; CESUR, YAŞAR; ÖZGEN, İLKER TOLGA; ÖZBEK, NUR; NURSOY, MUSTAFA ATİLLAPublication Metadata only Psychotic disorder, hypertension and seizures associated with vitamin B-12 deficiency: a case report(2012-04-01T00:00:00Z) Dogan, M.; Ariyuca, S.; Peker, E.; Akbayram, S.; Dogan, S. Z.; Özdemir, Ömer Faruk; Cesur, YAŞAR; CESUR, YAŞARThis report highlights a rare presentation of vitamin B-12 deficiency (concurrent psychotic disorder, seizures and hypertension). A 16-year-old girl presented with nervousness that had been persisting for 2 weeks. She had stopped eating and there was decreased self-care and she could not walk and sleep. Two days prior to admission, generalized tonic clonic convulsions were noted. On physical examination, vital signs were normal, except for hypertension (150/100 mm Hg). She did not respond to conversation; she could not answer the questions. Mood was depressive and hallucinations were noted. Laboratory analyses were normal, except for a low vitamin B-12 level (<150 pg mL(-1)). The patient was not given any treatment of hypertension, psychosis or seizures, except vitamin B-12 injections. After that, she showed improvement within 1 week. In the 7 days of hospitalization, the arterial blood pressure returned to normal, psychotic symptoms were resolved, the visual hallucinations and the depressive mood subsided, and she could eat and speak clearly. No hypertension or convulsions have been detected on the control examinations, and she has now been followed-up without any symptoms or findings. In conclusion, with this report we emphasized that psychosis, seizures and hypertension can be a rare manifestation of vitamin B-12 deficiency, which is reversible with therapy and serum vitamin B-12 level should be checked in patients who do not have an obvious cause for psychosis, seizures or hypertension.Publication Metadata only Congenital hypothyroidism with isolated fibula agenesis Fi̇bula agenezi̇si̇ i̇le bi̇rli̇kte konjeni̇tal hi̇poti̇roi̇di̇(2010-05-01T00:00:00Z) Doǧan, Murat; Yilmaz, Cahide; Çaksen, Hüseyin; Cesur, YAŞAR; AKPINAR, Fuat; GÜVEN, Ahmet Sami; CESUR, YAŞARPublication Metadata only Nadir Görülen Bir Kanser Türü Olarak Adrenokortikal Karsinom Olgusu(2020-11-01) Karadoğan M. T.; Özgen İ. T.; Çakır F. B.; Somuncu S.; Cesur Y.; ÇAKIR, FATMA BETÜL; CESUR, YAŞARPublication Metadata only Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism(2010-11-01T00:00:00Z) Cangul, Hakan; Morgan, Neil V.; FORMAN, Julia R.; Saglam, Halil; AYCAN, Zehra; Yakut, Tahsin; Gulten, Tuna; TARIM, Omer; Bober, Ece; Cesur, YAŞAR; Kirby, Gail A.; Pasha, Shanaz; Karkucak, Mutlu; EREN, Erdal; CETINKAYA, Semra; BAS, Veysel; Demir, Korcan; Yuca, Sevil A.; Meyer, Esther; Kendall, Michaela; Hogler, Wolfgang; Barrett, Timothy G.; Maher, Eamonn R.; CESUR, YAŞARObjective Nonsyndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Publication Metadata only Yeni mutasyon saptanan hipofosfatemik raşitizm olgusu(2017-04-30) KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; DUMAN, NİLGÜN; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; DUMAN, NİLGÜNPublication Metadata only Yeni mutasyon tespit edilen Sandhof Hastalığı vakası(2017-04-30) CESUR, YAŞAR; TAŞ, İBRAHİM; YEŞİL, GÖZDE; İŞCAN, AKIN; CESUR, YAŞAR; TAŞ, İBRAHİM; YEŞİL, GÖZDE; İŞCAN, AKINPublication Metadata only Metabolic group study for consensus development on nutritional treatment for phenylketonuria(2015-09-04) ÇAKIR BİÇER, NİHAN; GÖKÇAY, GÜLDEN; SENCER, ALTAY; ÖZER, IŞIL; SAĞLAM, TEYFİK; GUNDEN, F; AKTUĞLU ZEYBEK, AYŞE ÇİĞDEM; SAĞLAM, HALİL; CESUR, YAŞAR; ÖNAL, HASAN; DEMİRKOL, MÜBECCEL; CESUR, YAŞARPublication Metadata only A case of congenital hypothyroidism presented with dysmyelinization findings(2014-09-01) YUCA, SEVİL ARI; YILMAZ, CAHİDE; KAYA, AVNİ; USTYOL, LOKMAN; SAL, ERTAN; CESUR, YAŞAR; ÇAKSEN, HÜSEYİN; CESUR, YAŞARPublication Open Access Pseudohypoparathyroidism Type Ia with Normocalcemia(2019-04-01T00:00:00Z) Kutlu, Esra; CESUR, Yaşar; ÖZGEN, İLKER TOLGA; Yesil, Gozde; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; YEŞİL, GÖZDEPseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.