9 research outputs found
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
Raynaud′s phenomenon in a child with medulloblastoma as a late effect of chemotherapy
There are a lot of early or late side effects of chemotherapies. One of them is Raynaud′s phenomenon (RP). Vascular toxicity associated with antineoplastic agents is notified in bleomycin alone therapy or in combination with cisplatin, vinblastine, and vincristine. The mechanism of RP associated with antineoplastic agents is unknown. All children receiving vinblastine, vincristine, bleomycin and cisplatin therapy, are followed and questioned about their complaint on RP. Long-term follow-up of surviving patients is recommended. Oncologists should be aware of the potential late toxic effects of antineoplastic drugs
An overlap case of Parry–Romberg syndrome and en coup de sabre with striking ocular involvement and anti-double-stranded DNA positivity
Parry–Romberg syndrome (PRS) may overlap localized scleroderma (morphea) lesions with linear depression (en coup de sabre [ECDS]). Overlap case with PRS and ECDS was presented. Enophthalmos, uveitis, ocular torticollis, keratic linear precipitates, and anti-double-stranded DNA positivity were identified. Subendothelial keratic precipitates detected by an in vivo laser scanning confocal microscopy were the first profiled in the literature. Patients must be evaluated and followed up carefully by their clinics to prevent misdiagnosis and unnecessary procedures such as surgery of ocular torticollis as muscular torticollis
Ischemic modified albumin as a new biomarker in predicting oxidative stress in alopecia areata
Background/aim: Results show that oxidative stress is a pathophysiologic
factor for alopecia areata (AA); however, the markers used can be
confounding. Thus, we aimed to investigate the role of oxidative stress
in the pathogenesis of AA through an evaluation of ischemia-modified
albumin (IMA); other markers of the oxidant/antioxidant system, such as
SOD, CAT, GSH-ST, and MDA; and contributing clinical risk factors.
Materials and methods: The usefulness of IMA as a new marker for
oxidative stress was compared with that of other markers and evaluated
in patients with AA.
Results: The mean serum level of IMA was of higher statistical
significance in AA patients than in the control group (IMA: 0.57 +/-
0.01 vs. 0.52 +/- 0.02 Delta ABSU, P < 0.0001). IMA (P = 0.03, OR =
25.8, 95\% CI = 1.4-482.7) was found to be an independent predictor of
oxidative stress in patients with AA. Increased severity of AA was found
as an independent risk factor for IMA.
Conclusion: Long-lasting disease, male sex, >1 site of involvement of
disease, and increased severity of disease were correlated with
increased oxidation. Presence of AA, male sex, and severe disease were
determined to be independent risk factors for antioxidant and oxidant
systems. IMA has great potential as a biomarker of oxidative stress in
AA when compared to other studied biomarkers
Does the corticotropin-releasing hormone system play a role in the pathogenesis of lichen planus?
Introduction: Lichen planus (LP) is a chronic inflammatory disease, where the psychogenic factors seem to play an important role in the pathogenesis.
Aim: To determine the expression of corticotropin-releasing hormone (CRH) receptor type 1 (CRH-R1) in LP.
Material and methods: Thirty-two LP patients and 17 age/gender-matched controls were included in the study. Detailed information about the disease and body surface area (BSA) covered by the lesions was recorded. Immunohistochemically, the expression of CRH-R1 was stained in the lesional skin of patients with LP and in the control group.
Results: The comparison of CRH-R1 expression showed a statistically significant difference between LP patients and the controls (p < 0.05). Additionally, we did not observe any correlation between BSA and staining intensity in LP patients.
Conclusions: Our study showed an increase in CRH-R1 expression in LP lesions. These results support the participation of the cutaneous CRH/CRH-R1 system in the pathogenesis of LP skin lesions
The impact role of childhood traumas and life events in patients with alopecia aerate and psoriasis
© 2014, Ismail Volkan Şahiner et al.Background: Alopecia areata (AA) and psoriasis are common dermatological diseases which may be associated with psychosomatic origin. Close relationship with stressful life events has been shown both AA and psoriasis in previous studies. Dermatologic diseases which are thought to be psychosomatic origin are not examined about childhood traumas except AA. In the literature there is no study that investigates both stressful life events with childhood trauma in healthy indiviudals and dermatological diseases with psychosomatic origin such as AA and psoriasis. Objective: To determine whether stressful life events and childhood traumas play a role in AA is the first aim of this study. If it is, will this role specific for AA as a second aim? The patients with psoriasis and healthy individuals were also investigated too. Methods: Patients (range: 18-70 years of age) with a diagnosis of AA and psoriasis who admitted to Dermatology Outpatient Department of Baskent University Medical Faculty between August 2009 and July 2010 were recorded and analyzed for our study. Healthy individuals without past or present psychiatric symptoms proven by the Composite International Diagnostic Interview (CIDI) as control group were selected randomize. Forty patients with AA, 30 patients with psoriasis, and 50 healthy subjects as controls were stratified as three individual groups. The Childhood Trauma Questionnaire, the Life Events Checklist, The Beck Depression Inventory, and the Beck Anxiety Inventory and socio demographic data questionnaire were administered to the participants. Informed consent was obtained from all participants. Results: The rate of childhood traumatic events, the stressful life events, anxiety and depression scores were significantly higher in both AA and psoriasis group than healthy controls. Significant difference was not found between AA and psoriasis patients. Conclusion: Childhood traumas and stressful life events may play a role in the pathogenesis of AA. In addition, this role may also apply to other psychosomatic diseases as psoriasis. This result may let us understand the role of past and present psychological stressors in the etiology of dermatologic psychosomatic diseases. Psycho dermatologic new approaches are needed to evaluate stressful life events and childhood traumas
Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome
WOS: 000373099300016PubMed ID: 26788866To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1 +/- 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 +/- 1.7, -1.4 +/- 1.5, and 0.4 +/- 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. (c) 2016 Wiley Periodicals, Inc