Browsing by Author "Bulan, Keziban"

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Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype
(Alliance Communications Group Division Allen Press, 2016) Kaba, Sultan; Dogan, Murat; Bulan, Keziban; Demir, Nihat; Uner, Abdurrahman; Bulut, Mehmet Deniz; Kocaman, Selami
We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome. Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition.
A Confusing Coincidence: Neonatal Hypoglycemic Seizures and Hyperekplexia
(Hindawi Ltd, 2014) Demir, Nihat; Dogan, Murat; Yilmaz, Sanem; Peker, Erdal; Bulan, Keziban; Tuncer, Oguz
Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli. Genetic defects in glycine receptors as well as encephalitis, tumors, inflammation, and disgenesis are among the etiologic causes of the disease. The main problem in hyperekplexia is the incomplete development of inhibitory mechanisms or exaggerated stimulation of excitatory mediators. Hyperekplexia is often confused with epileptic seizures. Here we present a case with hypoglycemic convulsions coexisting with hyperekplexia, causing diagnostic difficulty.
Cystinosis in Eastern Turkey
(Walter de Gruyter Gmbh, 2016) Dogan, Murat; Bulan, Keziban; Kaba, Sultan; Cesur, Yasar; Ceylaner, Serdar; Ustyol, Lokman
Background: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. Methods: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. Results: Eleven patients (age range: 1.5-12 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and -glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the CTNS gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G > A) (homozygous) mutation was detected in eight patients. Conclusions: We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G > A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G > A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.
Dermatological Findings of Vitamin B12 Deficiency and Resolving Time of These Symptoms
(Taylor & Francis Ltd, 2014) Demir, Nihat; Dogan, Murat; Koc, Ahmet; Kaba, Sultan; Bulan, Keziban; Ozkol, Hatice Uce; Dogan, Sekibe Zehra
Aim: The mucocutaneous changes observed during vitamin B12 deficiency in children have been published only as case studies and small case series. In this study, we aimed to demonstrate the frequency of mucocutaneous changes (particularly hyperpigmentation) seen during vitamin B12 deficiency and resolving time of these symptoms with vitamin B12 treatment. Material and methods: This prospective study was conducted at the pediatrics outpatient clinic of Harran and Yuzuncu Yil University Faculty of Medicine, among 57 patients, aged between 6 and 24 months, who were diagnosed with vitamin B12 deficiency following various examinations and tests. A detailed examination was performed in respect to skin and mucosal findings. Patients with vitamin B12 deficiency were administered intramuscular cyanocobalamin. Prospective examination was continued, and resolving time of symptoms after treatment was recorded. Results: The mean age of the patients enrolled in the study was found to be 12.75 +/- 4.75. Hyperpigmentation was reported in 49 (85.96%) patients enrolled in the study; atrophic glossitis in 40 (70.17%), brittle and matt hair in 13 (22.80%), skin lesions (particularly diaper dermatitis) in eight (15.78%) and cheilosis in four (7.01%) patients. Three months after the treatment initiation, hyperpigmentation improved in 87.75%, atrophic glossitis in 97.5% and brittle and matt hair in 92.3% of the patients. Five patients (8.77%) with continuing pigmentation by the end of sixth months were considered as nonresponsive to the treatment. Conclusion: Deficiency of vitamin B12 should be considered in the differential diagnosis of infants who present with skin and mucosal lesions.
Evaluation of Lymphocyte Subgroups in Children With Down Syndrome
(Sage Publications inc, 2015) Yilmaz, Cahide; Dogan, Murat; Basarslan, Fatmagul; Yilmaz, Nebi; Yuca, Sevil; Bulan, Keziban; Caksen, Huseyin
In this study, lymphocyte subgroups including blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were analyzed in children with Down syndrome (DS). The study includes 85 children with DS, followed at Department of Pediatrics, Faculty of Medicine, Yuzuncu Yil University and 64 healthy age-matched control participants. Blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were examined in both the groups. Significantly decreased blood CD3, CD4, and CD19 values were found in the study group (P < .05) when compared with the control group. In conclusion, we would like to emphasize that blood CD3, CD4, and CD19 levels were found to be decreased in children with DS. Based on these finding, we think that these decreased lymphocyte subgroups might be responsible for increased susceptibility to infections in children with DS.
Immune Thrombocytopenic Purpura in a Case of Propionic Acidemia: Case Report
(Lippincott Williams & Wilkins, 2014) Bulan, Keziban; Dogan, Murat; Kaba, Sultan; Dogan, Sekibe Zehra; Akbayram, Sinan; Oner, Ahmet F.
Nadir Bir Tip 1 Diyabet Sunumu; Şiddetli Hiperlipidemi Çocuklar ve Hiperlipideminin Yönetimi: Olgu Sunumu
(2016) Kaba, Sultan; Ceylan, Nesrin; Doğan, Murat; Cesur, Yaşar; Bulan, Keziban
Diyabetik ketoasidoz, diyabetin en sık, yaşamı tehdit eden, akut bir komplikasyonudur. Lipemik seruma yol açan şiddetli hiperlipidemi, nadiren diyabetik ketoasidoz vakalarında görülür. Burada, ketoasidoz ile başvuran ve sütlü plazma görünümü ve şiddetli hiperlipidemisi olan 10 yaşında bir kız sunulmuştur. Biyokimya çalışmaları için alınmış kan örneğinde süt görünümü vardı. Laboratuvarda, aşırı lipemik numune nedeniyle kan örneği değerlendirilemedi; bu nedenle, yenilenmiş ölçüm yapıldı. İkinci ölçümde, glukoz, trigliserid, toplam kolesterol, düşük yoğunluklu lipoprotein (LDL-kolesterol) ve yüksek yoğunluklu lipoprotein (HDL kolesterol) seviyelerinin yükselmiş olduğu tespit edildi. Diyabetik ketoasidoz, asidotik solunum ve aseton kokusu olan bilinçsiz hastamızda ilk klinik tanı olarak kabul edildi. Bu olgu sunumu ile serum lipit düzeylerinin diyabetik ketoasidozda ve düşük glikoz kontrollü diyabetik çocuklarda ölçülmesi gerektiğini vurguladık. Ayrıca, bu vakada hiperlipidemi yönetimini paylaşmak istedik. Aynı zamanda, kan ölçümlerinin hiperlipidemi koşullarında hatalı olabileceği akılda tutulmalıdır; böylece, hiperlipidemi varlığında laboratuvarı stimüle etmek ikinci bir ölçüm gerektirebilir
A Very Rare Entity of Diabetes Insipidus Associated With Edwards Syndrome
(Hindawi Ltd, 2013) Demir, Nihat; Dogan, Murat; Peker, Erdal; Bulan, Keziban; Tuncer, Oguz
Edwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4-8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth hormone deficiency. The coexistence of holoproencephaly and DI in Edwards syndrome was discussed under the light of literature.