30 research outputs found
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
INTRODUCTION: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. METHODS: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. RESULTS: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24+-1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03+-17.09 and the verbal score was 82.88+-9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. DISCUSSION AND CONCLUSION: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families
Ring Chromosome 13, A Rare Case Report
This case report describes the cytogenetic and molecular characterization of a child with de-novo ring chromosome 13[r(13)]. The child presented with short stature, growth retardation and a Turner syndrome diagnosis. She was the firstcase of ring chromosome 13 cytogenetic alteration observed in our laboratory at Dicle University, Turkey. Herchromosomal composition was 46,XX,r(13). FISH (Fluorescence InSitu Hybridization) also confirmed the presence ofr(13). A chromosomal microarray analysis using a CytoScan® Optima assay (Affymetrix) detected a 6.3 Mb deletion at13q33.3q34. This rare case presented the first r(13) cytogenetic alteration detected in our laborator
SYNTHESIS AND BIOLOGICAL EVALUATION OF SOME NEW HYDRAZONE DERIVATIVES BEARING PYRIMIDINE RING AS ANALGESIC AND ANTI-INFLAMMATORY AGENTS
New hydrazone derivatives were synthesized from 4-chloro-2-(methylthio) pyrimidine-5-carbohydrazide. IR, 1H-NMR, 13C-NMR, mass spectral data and elemental analysis characterized synthesized compounds. All compounds were investigated for analgesic and anti-inflammatory activity with hot plate test and biochemical assay, respectively. The results of anti-inflammatory activity showed that compound 2t had maximal lipoxygenase (LOX) inhibition (66.30%) whereas inhibitions of 2a, 2c, 2i, 2k, 2l, 2m, 2p, 2s, and 2u were observed between approximately 45-15%. Our results also indicated that 15 compounds of 21 had an analgesic effect in hot plate test. Analgesic effect of 2l, 2s, 2t began earlier than others while the effect of 2i began at the latest time. According to the activity results, compound 2t have both significant analgesic and anti-inflammatory effects
Bir Köpekte Odontojenik Tümör (Ameloblastoma) Olgusu
Olgumuzu 6 yaşlı, dişi, Golden Retriever ırkı bir köpek oluşturdu. Bu köpeğin
mandibulasının sağ canin diş kaidesinde gingivadan başlayarak hızla büyüme özelliği
gösteren ve köpeklerde nadiren görülen odontogenic tümör olgusuna rastlanıldı. Kitle
hemimandibulektomi tekniği ile bölgeden uzaklaştırıldı. Periyodik olarak postoeratif
radyolojik ve klinik takipleri yapıldı
Bir Kedide Nasofarengeal Fibrosarkoma Olgusunun Operatif Tedavisi
Olgumuzu oluşturan, 8 yaşlı, dişi, yerli ırk melez bir kedide, palatum molleden köken
alan ve nasofarengeal bölgeye uzanan ülseratif bir kitle tespit edilmiştir. Bu kitle, yaklaşık
1,5 cm. çapında, 0,5 cm kalınlığında olduğu video-otoskop muayene ile anlaşılmıştır. Aynı
muayene tekniği ile östaki kanalıyla bağlantısı olmadığı belirlenmiştir. Bu makalemizde
kitlenin operatif olarak bölgeden uzaklaştırılması ve postoperatif tedavi süreci anlatılmıştır.
Ayrıca ektirpe edilen kitlenin histopatolojik değerlendirilmesi yapılmıştır
Clinical and laboratory characteristics of patients with congenital hypothyroidism
GİRİŞ: Konjenital hipotiroidi (KH) günümüzde hala çocuklarda önlenebilir mental retardasyonun en sık sebeplerindendir. Bu çalışmada kalıcı ve geçici konjenital hipotiroidili vakaların etyolojileri, laboratuvar bulguları, tedavi dozları ve süreleri karşılaştırılmıştır. GEREÇ ve YÖNTEM: Konjenital hipotiroidi tanısı ile en az 3 yıl takip edilen 106 hasta (42 kız, 64 erkek) çalışmaya alındı. Hastaların dosyaları retrospektrif olarak tarandı. Tanı anında, tedavinin birinci, ikinci ve üçüncü yılında ve tedavi kesildikten 4-6 hafta sonra bakılan TSH, FT4, FT3, boy SDS, kilo SDS ve tedavi dozları not edildi. BULGULAR: Hastaların %41.5’inde kalıcı KH, %58.5’inde ise geçici KH saptandı. Kalıcı hipotiroidilerin en sık sebebi tiroid disgenezileri (%34) iken, geçici KH’li hastalarda en sık sebep dishormonogenezis (%38,7) idi. En sık saptanan semptomlar uzamış sarılık ve kabızlıktı. Hastaların büyük çoğunluğunu tarama testi sonucuyla polikliniğe yönlendirilen (%27.4) ve tarama testi sonucunu beklemeden rutin muayene amaçlı polikliniğimize başvuran (%27.4) hastalar oluşturmaktaydı. Gruplar arasında tanı esnasındaki serum TSH, sT4 ve sT3 seviyeleri açısından anlamlı fark yoktu (sırası ile p=0.955, p=0.532, p=0.23). Geçici KH grubunda tiroglobulin düzeyi anlamlı olarak yüksekti (p=0.026). Takiplerde kalıcı KH’li hastaların FT3 düzeyleri anlamlı ölçüde daha düşük idi. (sırasıyla p=0.003, p=0.017, p=0.032). SONUÇ: Çalışmamızda geçici KH oranının daha yüksek olduğu ve geçiçi KH’lilerin büyük çoğunluğunun dishormonogenezise bağlı olduğu görülmüştür. Tanı anındaki tiroid hormonu seviyelerinin kalıcı ve geçici KH ayırımında belirleyici olmadığı gösterilmiştir. Ancak takiplerde ihtiyaç duyulan ilaç dozunun ve TSH düzeyinin yüksek olması ve FT3 seviyesinin düşük seyretmesi kalıcı KH’yi ayırt etmede kullanılabileceği sonucuna varılmıştır.INTRODUCTION: Congenital hypothyroidism (CH) is still the most common cause of mental retardation. ln this study, etiology, laboratory findings, treatment doses, durations of permanent and transient CH cases were compared. METHODS: 106 patients (42 female, 64 male) who had been treated for CH for at least 3 years were included. Patients’ files were retrospectively scanned. TSH, FT4, FT3, height, weight and treatment doses, findings at the first time of diagnosis, first, second, and third year of treatment and 4-6 weeks after the treatment was ended, were noted. RESULTS: Permanent CH was found in 41.5% of patients and transient CH was found in 58.5% of patients. The most common cause of permanent hypothyroidism was thyroid dysgenesis (34%). dyshormonogenesis (38.7%) was the most frequent cause in patients with transient CH. The most common symptoms were hyperbilirubunemia and constipation. 27 % of the patients were referred to the outcome screening program and 27% of the patients were visited for routine control. Serum TSH, FT4 and FT3 levels at diagnosis were not significantly different between the groups (p = 0.955, p = 0.532, p = 0.23). The level of thyroglobulin was significantly higher in the transient CH group (p =0,026). FT3 levels of patients with permanent CH were significantly lower during follow-up.( p= 0.003, p = 0.017, p = 0.032). CONCLUSION: In our study, it is found that the ratio of transient CH is higher and most of the transient cases were attributed to dyshormonogenesis. It is shown that the thyroid hormone levels at the time of diagnosis is not significantly different in the differential diagnosis of permanent and transient CH. However, it is concluded that the need for higher dose in the treatment during follow up and the higher TSH levels, and the lower fT3 levels can be used in diagnosis of permanent CH
Occult HBV Infection in Continuous Ambulatory Peritoneal Dialysis and Hemodialysis Patients
Aim. Occult hepatitis B virus (HBV) infection can be defined as the presence of HBV DNA in the liver and/or blood in the absence of detectable serum hepatitis B surface antigen (HBs Ag). There is a high prevalence of occult HBV infection in dialysis patients. This study investigated the prevalence of occult HBV infection in continuous ambulatory peritoneal dialysis (CAPD) and hemodialysis (HD) patients and compared the prevalence of occult HBV infection in dialysis patients either with or without hepatitis C virus (HCV) infection. Methods. In this cross-sectional study, 71 CAPD patients and 71 HD patients were evaluated. HBV DNA testing was performed by polymerase chain reaction (PCR). We recorded general characteristics of the patients, duration of dialysis, HBs Ag, antibody to hepatitis B surface antigen (anti-HBs), antibody to hepatitis B core antigen (anti-HBc), anti-HCV antibody (anti-HCV), HCV RNA, serum alanine aminotransferase (ALT), and aspartate aminotransferase levels (AST). Results. Twelve (16.9%) of the 71 HD patients and seven (9.8%) of the 71 CAPD patients were HBV DNA-positive. A statistically significant difference was not observed in the groups. Anti-HCV was negative and AST and ALT levels were normal in all of the HBV-DNA positive patients. Viral loads were low in both groups. Conclusion. This is the first study that analyzes occult HBV prevalence in CAPD patients. We conclude that the prevalence of the occult HBV may be common in CAPD patients as in HD patients, and HCV positivity is not a contributing factor to occult HBV infection in dialysis patients