Publications by authors named "Serap Arıcı"
Article Synopsis
- IL-1 mediated systemic autoinflammatory diseases, such as CAPS and TRAPS, are rare inflammatory conditions predominantly affecting children, associated with severe symptoms and poor outcomes if left untreated.
- A multinational task force of experts created evidence-based recommendations to standardize the diagnosis, treatment, and monitoring of these diseases to improve patient care.
- The task force established key principles and specific guidelines covering diagnosis, therapy, and long-term monitoring to better manage organ damage and the overall treatment of affected patients.
Article Synopsis
- IL-1 mediated systemic autoinflammatory diseases like CAPS, TRAPS, MKD, and DIRA primarily affect young children, showing various organ involvement, and require effective treatment strategies due to their severe nature and poor prognosis if untreated.* -
- A multidisciplinary task force was created to establish evidence-based guidelines for diagnosing and managing these diseases, using systematic reviews and expert consensus methods.* -
- The task force created comprehensive recommendations, including 5 guiding principles, 14 statements on diagnosis, 10 on treatment, and 9 on long-term monitoring, aiming to improve patient outcomes through standardized care.*
Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family.
View Article and Find Full Text PDFPermanent central diabetes insipidus with complete regression of pituitary stalk enlargement after 4 years of follow-up.
J Clin Res Pediatr Endocrinol
December 2011
A 14 year-old patient was admitted because of a history of polyuria and polydipsia. A diagnosis of central diabetes insipidus (CDI) accompanied by growth hormone (GH) and gonadotropin deficiency was made. Hypophyseal magnetic resonance imaging (MRI) of the patient demonstrated isolated pituitary stalk enlargement.
View Article and Find Full Text PDFAim: To evaluate the height and weight patterns of children with chronic hepatitis B (CHB) with and without treatment.
Methods: Thirty-four patients with immunoactive CHB randomly assigned to receive interferon-alpha2a (IFN) (5 mIU/m2, 6 months, group I) or IFN (same dose and duration) plus lamivudine (4 mg/kg/day, 24 months) (group II). Fifteen immunotolerant patients (group III) were followed without any treatment.
Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa-Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness.
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