Gerçek Zamanlı EKG İşaretlerinin Mobil Sistemde İzlenmesi

Bu çalışma mobil bir sistem ile elektrokardiyogram (EKG) işaretlerini gerçek zamanlı izleme imkânı sağlayan bir geliştirme kitinin bağlantısı üzerinedir. Visual Studio .NET platformunda geliştirilen bir yazılımla, gerçek zamanlı EKG işaretleri non-invaziv yöntemlerle insan vücudundan okunmuş ve mobil sistemde grafiksel olarak görüntülenmiştir. Einthoven üçgeni olarak isimlendirilen bağlantı yöntemiyle EKG elektrotları vücut üzerinde belli bölgelere yerleştirilmiştir. Daha sonra yazılımın çalıştırılması ile seri port üzerinden veri akışı gerçekleşmekte ve bu veriler işaret değeri olarak, grafiksel bir arayüzle mobil cihazın ekranından görüntülenmektedir

Evaluation of Permanent Growth Hormone Deficiency (GHD) in Young Adults with Childhood Onset GHD: A multicenter study

Background: Reconfirming the diagnosis of childhood onset growth hormone deficiency (GHD) in young adults is necessary to demonstrate the need for continuation of GH therapy

Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene

AbstractContext: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.Objective: The objective of the investigation was to study the functional and structural consequences of three novel StAR mutations (p.N148K in an Italian patient; p.P129fs and p.Q128R in a Turkish patient).Methods and Results: Transient in vitro expression of the mutant proteins together with P450 side-chain cleavage enzyme, adrenodoxin, and adrenodoxin reductase yielded severely diminished cholesterol conversion of the p.N148K mutant, the combined p.P129fs and p.Q128R mutant, and the p.P129fs mutant by itself. The p.Q128R mutant led to a higher cholesterol conversion than the wild-type StAR protein. As derived from three-dimensional protein modeling, the residue N148 is lining the ligand cavity of StAR. A positively charged lysine residue at position 148 disturbs the hydrophobic cluster formed by the α4-helix and the sterol binding pocket. The frame shift mutation p.P129fs truncates the StAR protein. Residue p.Q128 is situated at the surface of the molecule and is not part of any functionally characterized region of the protein.Conclusion: The mutations p.N148K and p.P129fs cause adrenal insufficiency in both cases and lead to a disorder of sex development with complete sex reversal in the 46, XY case. The mutation p.Q128R, which is not relevant for the patient's phenotype, is the first reported variant showing a gain of function. We speculate that the substitution of hydrophilic glutamine with basic arginine at the surface of the molecule may accelerate cholesterol transfer

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey

Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages of 2-13 years, diagnosis is usually delayed until adulthood. Some individuals with the same genetic defect develop a condition named hyperphosphatemic hyperostosis syndrome. Herein we report two siblings suffering from periarticular, warm, hard and tender subcutaneous masses. Subcutaneous calcifications were present on X-ray and biopsy results were consistent with calcinosis in both patients. Laboratory results showed marked hyperphosphatemia and elevated renal tubular phosphate reabsorption rates, normal renal function tests and normal serum 25-hydroxyvitamin D levels. Thus, we suspected HFTC and performed next generation sequencing for the GALNT3 gene, reported as the most frequent cause. A novel homozygote P85Rfs*6 (c.254_255delCT) mutation in GALNT3 was identified in both siblings. Our report adds two new patients to the literature about this rare genetic disease and suggests that small deletions in the GALNT3 gene may be related with HFTC phenotype

Serum IGF-1 and IGFBP-3 Levels in Healthy Children Between 0 and 6 Years of Age

Objective: Along with growth hormone (GH) levels, measurements of serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis of GH deficiency and in monitoring the efficacy and safety of long-term GH treatment. The purpose of the present study was to establish reference values for serum IGF-1 and IGFBP-3 in healthy Turkish children less than 6 years of age

The real-life efficacy of the second line treatment strategy in advanced pancreas cancer

ABS TRACT Objective: Pancreatic cancer is one of the leading causes of cancer-related death. Despite the introduction of new therapeutic agents, survival rates remain low. Furthermore, few trials have evaluated the options for second-line therapy and the prognostic variables. In this study, we aimed to determine the real-world efficacy and prognostic parameters of second-line treatment for advanced pancreatic cancer. Material and Methods: Patients with advanced pancreatic cancer from different centers who received second-line treatment were enrolled in the study. The patients’ demographic, clinical, and pathological characteristics were retrieved retrospectively. Results: A total of 161 patients were enrolled in the study. The majority of the patients (50.3%) received oxaliplatin plus fluoropyrimidine as second-line treatment. The median progression-free survival and overall survival for the entire cohort were 2.5 months and 4.5 months, respectively. In univariate anal-yses, an Eastern Cooperative Oncology Group performance status ≥2, age ≥65 years, hypoalbuminemia, thrombocytosis, presence of metastatic peritoneal disease, elevated alkaline phosphatase and carcinoembryonic antigen levels, and a neutrophil-lymphocyte ratio (NLR) ≥3 were identified as poor prognostic factors. In multivariable analyses, low albumin level (p=0.031) and high NLR (p=0.05) were found to be independent prognostic factors for overall survival. Conclusion: Pancreatic cancer is a unique malignancy, and advanced disease has a dismal prog-nosis. In univariate analyses, we identified multiple factors that were poor prognostic variables. In particular, the albumin level and NLR were independent prognostic factors for overall survival, and these parameters might be useful in selecting the second-line treatment and pre-dicting the survival of these patients

Predictive factor for lymph node metastasis in non-metastatic colorectal adenocarcinomas

Objectives: To evaluate the predictive factors of lymph node involvement in non-metastatic colorectal adenocarcinomas (nmCRC). Methods: A total of 453 patients diagnosed with nmCRC were analyzed regarding T stage, lymphovascular invasion status, tumor grade and proposed risk score (RS), determined by the combination of these three factors for lymph node metastasis. Results: The median age was 62 (25-90 years), M/F ratio was 1.4:1 and majority of the patients had tumors localized on the left colon (70.6%). The number of excised lymph nodes was ≥12 in 77% of the cases. The postoperative pathological assessments revealed that 57.2% of patie,nts had N0 disease, 29.1% had N1 disease, and 13.7% had N2 disease. The T stages (p=0.007), grade (p<0.001), lymphovascular invasion (p=0.002), RS (p<0.001), and number of excised lymph nodes (p=0.029) were significantly different between N0, N1, and N2 patients. Higher RS was associated with lymph node metastasis (p<0.001). Conclusion: The risk score may predict lymph node metastasis in patients with nmCRC and if validated may be helpful in the decision-making of adjuvant chemotherapy, especially in the elderly and patients with inadequate lymph node dissection

Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

İnsüline bağımlı diyabetes mellitus'lu çocuk ve adelösanlarda growth hormon, insülin-like growth faktör bağlayıcı protein-3 düzeylerinin saptanması

TEZ2347Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 1997.Kaynakça (s. 38-48) var.48 s. ; 30 cm.