Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review

Conclusion: This study not only extended the clinical and mutation spectrum ofSLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research

Related Links:

Authors: Farag AGA, Samaka R, Elshafey EN, Shehata WA, El Sherbiny EG, Hammam MA Abstract Background: Human JAKs are responsible for generating docking sites for human SSTAT phosphorylation. The role of JAKs in psoriasis pathogenesis has not been clearly explained. Aim: To investigate the role of JAK1 in psoriasis pathogenesis and to assess if this role is mediated through STAT3 or not, through evaluation of their immunohistochemical expression in the skin of psoriatic patients. Methods: This case-control study was carried out on 26 patients presenting with psoriasis vulgaris versus 26 age- and sex-matched apparent...
Source: Clinical, Cosmetic and Investigational Dermatology - Category: Dermatology Tags: Clin Cosmet Investig Dermatol Source Type: research
This study evaluated whether 41 atrophic glossitis (AG) patients with macrocytosis had significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody (GPCA) positivity than 532 healthy control subjects or 1064 AG patients.MethodsComplete blood count, serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 41 AG patients with macrocytosis, 1064 AG patients, and 532 healthy control subjects were measured and compared.ResultsWe found that 73.2%, 22.0%, 73.2%, 4.9%, 80.5%, and 56.1% of 41 AG patients with macrocytosis were diagnosed as having blo...
Source: Journal of the Formosan Medical Association - Category: General Medicine Source Type: research
Authors: Iltar U, Göçer M, Kurtoğlu E PMID: 31309095 [PubMed]
Source: Blood Research - Category: Hematology Tags: Blood Res Source Type: research
Conclusion: Outcomes of w-AIHA treatment were considerably heterogeneous. Low rituximab doses plus high dexamethasone doses were effective for refractory disease. PMID: 31309092 [PubMed]
Source: Blood Research - Category: Hematology Tags: Blood Res Source Type: research
This study was a randomized controlled study.SettingsThis study was designed by researchers at Dokuz Eylül University, Izmir, Turkey.ParticipantsForty-two pwMS were included in this randomized controlled trial.Main outcome measuresWalking, core stability, balance confidence, respiratory muscle strength, and cognitive functions were assessed before and after the program.InterventionsThe participants were randomly divided into two groups. The Pilates exercises group (n=21) received therapy weekly for 8 weeks along with a home exercise program. The home exercise group (n=21) was given standardized exercises reflecting ro...
Source: EXPLORE: The Journal of Science and Healing - Category: Complementary Medicine Source Type: research
This study was conducted to determine the effects of lavender oil on the levels of anxiety and vital signs in benign prostate hyperplasia patients (BPH) in their preoperative period.MethodThis was a quasi-experimental study and a pretest-posttest design with a control group. The population of the study consisted of elderly male patients who were hospitalized at the urology clinic of a hospital in Turkey, eligible for inclusion, and who were scheduled to undergo BPH surgery. These patients had a prostate mass>30g on which medical treatment and minimal surgical treatment had not been succesful but which could be cured thr...
Source: EXPLORE: The Journal of Science and Healing - Category: Complementary Medicine Source Type: research
Publication date: Available online 16 July 2019Source: Food ControlAuthor(s): Liangjuan Zhao, Kaidi Wang, Chuncai Yan, Jing Xiao, Hong Wu, Hongwei Zhang, Xia Zhang, Can Zhang, Yaxi Hu, Xiaonan Lu, Wenjie ZhengAbstractA simple PCR-based lateral flow assay (LFA) was developed to detect turkey ingredient in foods. We developed this assay based on PCR amplification of turkey DNA, followed by detecting labeled amplicon by LFA. The results could be observed by the naked eye within 5 min following PCR. The reliability of this assay was confirmed by gel electrophoresis. Specificity tests validated no cross-reactivity with 21 oth...
Source: Food Control - Category: Food Science Source Type: research
Authors: Sahin Z, Ozkaya A, Uckun M, Yologlu E, Kuzu M, Comakli V, Demirdag R, Tel AZ, Aymelek F, Yologlu S Abstract Cyclotrichium niveum is an endemic plant for Turkey and it appears to have in vitro antioxidant and acetylcholinesterase inhibition properties. To the best of our knowledge, there has been no study on the in vivo effects of this plant. Therefore, the purpose of this study was to evaluate the effects of C. niveum on lead (Pb)-acetate-induced potential alterations in brain acetylcholinesterase activity, as well as oxidative stress in male rats. The rats were randomly assigned to control, Pb-acetate, C....
Source: Cellular and Molecular Biology - Category: Molecular Biology Tags: Cell Mol Biol (Noisy-le-grand) Source Type: research
Conclusion: Various bone marrow disorders were classified and evaluated separately. A systematic approach to its evaluation by categorization is essential with prudent use of both conventional and problem-solving techniques, such as CSI and DWI, for accurate diagnosis and appropriate patient management. Conventional radiology depicts changes of an altered bony matrix while MRI displays changes at a cellular level and is well suited for imaging the bone marrow. MRI serves as a screening method in bone marrow disorders and the diagnosis is established in context with the clinical findings or by biopsy. PMID: 31304706 [PubMed - in process]
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
Authors: Nawal CL, Agarwal S, Agrawal A, Prakash R, Mital P, Singh A, Chejara RS Abstract Introduction: The resurgence of epidemic of Influenza A (H1N1) pdm 09 was phenomenal in 2015 and has become an annual phenomenon. Antigenic drift and reassortment is the rule rather than exception, conferring survival benefit to the virus. As this disease has high mortality, we compared the clinico-epidemiological profile of patients expired in the year 2015 due to "A/California/7/2009" strain with those of expired in the year 2018 due to "A/Michigan/45/2015" strain. Material and Method: We collected da...
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
More News: Anemia | Children | Endocrinology | Genetics | Hepatomegaly | Hormones | Hypertrichosis | Laboratory Medicine | Liver | Low Testosterone | Pediatrics | Skin | Skin Biopsy | Study | Thyroid | Turkey Health | Urology & Nephrology