Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency

Aylin Türel Ermertcan,Ali Yaşar,Tuba Çelebİ Kayhan,Hüseyin Gülen,Pelin Ertan 대한피부과학회 2011 Annals of Dermatology Vol.23 No.-

Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by hypodontia, hypotrichosis, and partial or total ecrine sweat gland deficiency. The most prevalent form of HED is inherited as an X linked pattern. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an X-linked recessive disease, which leads to hemolytic anemia and jaundice. It is expressed in males, while heterozygous females are usually clinically normal. A 12-year-old boy with the complaints of hair and eyebrow disturbances, teeth disfigurement, decreased sweating, and xerosis presented to the outpatient clinic. Dermatological examination revealed sparse hair and eyebrows, conical- shaped teeth, xerosis,syndactylia, transverse grooves, and discoloration of nails. Laboratory findings indicated anemia. His 3-year-old sister also had sparse hair and eyebrows, xerosis, and syndactylia. We learned that the patient had a previous history of neonatal jaundice and a diagnosis of G-6-PD deficiency. Although it has been shown that loci of ectodermal dysplasia and G-6-PD deficiency genes are near to one another, we did not find any case study reporting on occurrence of these two genetic diseases together. With the aspect of this rare and interesting case, the relationship between HED and G-6-PD deficiency was defined. (Ann Dermatol 23(S1) S8∼S10,2011)

Evaluation of median mandibular flexure values in dentulous and edentulous subjects by using an intraoral digital scanner

Merve Gülsoy,Süleyman Hakan Tuna,Gürel Pekkan 대한치과보철학회 2022 The Journal of Advanced Prosthodontics Vol.14 No.1

PURPOSE. Mandibular flexure is a crucial phenomenon that may affect the success of rigid bilateral mandibular prosthetic treatment. The aim of this study was to determine the amount of median mandibular flexure (MMF) that occurs during mouth opening from anterior to posterior mandible in seven different regions, in different age and gender groups of both dentulous and edentulous subjects, using an intraoral digital scanner. MATERIALS AND METHODS. In this study, the mandibular arch of 56 dentulous and 35 edentulous individuals were scanned with an intraoral scanner at both the minimum mouth opening (MnMO) and the maximum mouth opening (MxMO). MMF values were calculated by subtracting the distance value at the MxMO from the distance between the reference points at the MnMO at seven different mandibular regions of dentulous and edentulous subjects. In addition, the left and right side MMF values were measured. All data were analyzed statistically (α = .05). RESULTS. MMF value increased linearly from anterior to posterior mandible in both dentulous and edentulous individuals. The differences in MMF values were not statistically significant according to side (left/right), age, or gender (P > .05). No significant differences were found between the mean MMF values of the same region in both dentulous and edentulous individuals (P > .05). CONCLUSION. MMF was seen in different regions of the mandibles of both edentulous and dentulous individuals measured at the MxMO. Mandibular flexure should be considered for the success and prognosis of the long-span and rigid prostheses.

Association between Red Blood Cell Distribution Width and Coronary Artery Calcification in Patients Undergoing 64-Multidetector Computed Tomography

Ozgul Malcok Gürel,Muhammed Bora Demircelik,Mukadder Ayse Bilgic,Hakki Yilmaz,Omer Caglar Yilmaz,Muzaffer Cakmak,Beyhan Eryonucu 대한심장학회 2015 Korean Circulation Journal Vol.45 No.5

Background and Objectives: The red blood cell distribution width (RDW) has been found to be associated with cardiovascular morbidity and mortality. The objective of this study was to determine whether the RDW measures are associated with the coronary artery calcification score (CACS) in patients who did not present with obvious coronary heart disease (CHD). Subjects and Methods: A total of 527 consecutive patients with a low to intermediate risk for CHD but without obvious disease were enrolled in this study. The study subjects underwent coronary computerized tomography angiography and CACS was calculated. The patients were divided into two groups based on CACS: Group I (CACS≤100) and Group II (CACS>100). The two groups were compared in terms of classic CHD risk factors and haematological parameters, particularly the RDW. Results: Group I patients were younger than Group II patients. The Framingham risk score (FRS) in patients of Group II was significantly higher than that in patients of Group I. Group II patients had significantly elevated levels of haemoglobin, RDW, neutrophil count, and neutrophil/lymphocyte ratio compared with Group I patients. CACS was correlated with age, RDW, and ejection fraction. In the multivariate analysis, age, RDW, and FRS were independent predictors of CACS. Using the receiver-operating characteristic curve analysis, a RDW value of 13.05% was identified as the best cut-off for predicting the severity of CACS (>100) (area under the curve=0.706). Conclusion: We found that the RDW is an independent predictor of the CACS, suggesting that it might be a useful marker for predicting CAD.

Differential physiological and molecular responses of three‑leaf stage barley (Hordeum vulgare L.) under salt stress within hours

Cüneyt Uçarlı,Filiz Gürel 한국식물생명공학회 2020 Plant biotechnology reports Vol.14 No.1

Salt stress is first perceived by the plant roots and inhibits plant growth in the short-term by inducing osmotic stress caused by decreased water availability. In this study, 160 mM NaCl was applied to three-leaf-stage barley plants (Hordeum vulgare L. cv. Martı) for a short period (0, 2, and 26 h) Osmolyte accumulation and ion leakage was significantly increased after salt stress treatment compared with control conditons in both leaf and root tissues within 2 h. We have also found that expressions of transcription factors HvDRF2 and HvWRKY12, associated with abiotic stress including salinity and drought stress, were quite low in root and shoots in control conditions; however, salt stress resulted into upregulation of HvDRF2 expression as 28.8- and 26.6-fold in roots and leaves, respectively, within 26 h. While salt stress-induced significantly upregulation of HvPR1A (26.4-fold) HvNHX1 (sevenfold) in 2 h at P < 0.05 level, significant upregulation of HvMT2 (8.2-fold) and HvDHN3 (4.7-fold) was observed at 26 h after salt treatment in roots. In leaves, HvMT2 (12.7-fold), HvNHX1 (12.1-fold) and HvBAS1 (3.4-fold) were significantly upregulated under salt stress. Only HvLHCB mRNA level was significantly decreased as 2- and 5.6-fold in leaf tissues with salinityin 2 and 26 h, respectively.

Functional and evolutionary genomic inferences in <i>Populus</i> through genome and population sequencing of American and European aspen

Lin, Yao-Cheng,Wang, Jing,Delhomme, Nicolas,Schiffthaler, Bastian,Sundströ,m, Gö,rel,Zuccolo, Andrea,Nystedt, Bjö,rn,Hvidsten, Torgeir R.,de la Torre, Amanda,Cossu, Rosa M.,Hoeppner, Marc National Academy of Sciences 2018 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF Vol.115 No.46

<▼1><P><B>Significance</B></P><P>We performed de novo, full-genome sequence analysis of two <I>Populus</I> species, North American quaking and Eurasian trembling aspen, that contain striking levels of genetic variation. Our results showed that positive and negative selection broadly affects patterns of genomic variation, but to varying degrees across coding and noncoding regions. The strength of selection and rates of sequence divergence were strongly related to differences in gene expression and coexpression network connectivity. These results highlight the importance of both positive and negative selection in shaping genome-wide levels of genetic variation in an obligately outcrossing, perennial plant. The resources we present establish aspens as a powerful study system enabling future studies for understanding the genomic determinants of adaptive evolution.</P></▼1><▼2><P>The <I>Populus</I> genus is one of the major plant model systems, but genomic resources have thus far primarily been available for poplar species, and primarily <I>Populus trichocarpa</I> (Torr. & Gray), which was the first tree with a whole-genome assembly. To further advance evolutionary and functional genomic analyses in <I>Populus</I>, we produced genome assemblies and population genetics resources of two aspen species, <I>Populus tremula</I> L. and <I>Populus tremuloides</I> Michx. The two aspen species have distributions spanning the Northern Hemisphere, where they are keystone species supporting a wide variety of dependent communities and produce a diverse array of secondary metabolites. Our analyses show that the two aspens share a similar genome structure and a highly conserved gene content with <I>P. trichocarpa</I> but display substantially higher levels of heterozygosity. Based on population resequencing data, we observed widespread positive and negative selection acting on both coding and noncoding regions. Furthermore, patterns of genetic diversity and molecular evolution in aspen are influenced by a number of features, such as expression level, coexpression network connectivity, and regulatory variation. To maximize the community utility of these resources, we have integrated all presented data within the PopGenIE web resource (PopGenIE.org).</P></▼2>