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1.
Endocr Pract ; 2024 May 08.
Article in English | MEDLINE | ID: mdl-38729569

ABSTRACT

OBJECTIVE: There has been increasing evidence that patients with adrenal incidentalomas (AIs) who have 1-mg dexamethasone suppression test (DST) cortisol levels >0.9 µg/dL may be exposed to the adverse consequences of hypercortisolaemia. We aim to evaluate whether there is a difference in Beck Depression Inventory-II (BDI-II) and quality of life (QoL) score in patients with AI based on the threshold of a DST cortisol level >0.9 µg/dL. METHODS: This case-control study included 42 nonfunctional adrenal incidentaloma (NFAI), 53 mild autonomic cortisol secretion (MACS) and 42 healthy controls (HCs). In addition, patients were categorized as ≤0.9 and >0.9 µg/dL according to their DST cortisol results. RESULTS: There was no difference in the QoL and BDI-II scores of MACS compared to NFAI. The BDI-II score was higher and QoL was lower in MACS and NFAI compared to HCs. The difference in QoL and BDI-II scores between MACS and NFAI remained insignificant when the DST cortisol levels threshold was graded upward (5.0 µg/dL). The prevalence of depression was higher in the AI >0.9 µg/dL group than the AI ≤0.9 µg/dL group (respectively, 16.7% and 55.8%, P = .003), BDI-II scores were higher in the AI >0.9 µg/dL group than in the AI ≤0.9 µg/dL group and HCs. The DST was an independent factor affecting the frequency of depression (odds ratio: 1.39, P = .037). CONCLUSION: MACS and patients with NFAI had similar QoL and depression scores according to the 1.8 µg/dL and above, whereas, had lower QoL and higher depression scores according to the 0.9 µg/dL.

2.
Article in English | MEDLINE | ID: mdl-37647163

ABSTRACT

Low vitamin D levels and adverse effects have been reported in SARS-COV-2 positive patients. This study examined the effect of the vitamin D receptor gene BsmI polymorphism on SARS-COV-2 positive patients. A total of 80 SARS-COV-2 positive inpatients were included in the study, and 110 healthy individuals were included as a control group. The 25-(OH) vitamin D3, lymphocyte, and activated partial thromboplastin time levels of SARS-COV-2 positive patients were lower than those of the control group. The prothrombin time (PT), international normalized ratio (INR), D-dimer, C-reactive protein (CRP), procalcitonin, and ferritin levels of SARS-COV-2 positive patients were higher than those of the control group. A negative correlation was found between 25-(OH) vitamin D3 levels and white blood cell count, PT, INR, D-dimer, CRP, procalcitonin, and ferritin levels in SARS-COV-2 positive patients. The 25-(OH) vitamin D3 level in individuals with the BB genotype was higher than the 25-(OH) vitamin D3 level in individuals with the Bb and bb genotype. A statistically significant difference was found between the groups in terms of the genotype and allele distributions of BsmI polymorphism. When the genotypes were analyzed in terms of bb versus Bb + BB, a statistically significant difference was found between the groups. However, this finding was not found between the intensive care inpatient subgroup and the other inpatient subgroup. In conclusion, BsmI b allele and bb genotype were associated with hospitalization for SARS-COV-2 infection. This may be because individuals with b allele have low levels of vitamin D.


Subject(s)
COVID-19 , Receptors, Calcitriol , Humans , Receptors, Calcitriol/genetics , SARS-CoV-2/genetics , Procalcitonin/genetics , COVID-19/genetics , Vitamin D , Genotype , Cholecalciferol , Hospitalization , Ferritins/genetics , Genetic Predisposition to Disease
3.
Fetal Pediatr Pathol ; 42(6): 936-949, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37818552

ABSTRACT

OBJECTIVE: It remains unclear whether the low amount of SMPDL-3b required for rituximab binding is the cause of treatment resistance in patients with treatment-resistant nephrotic syndrome with advanced podocyte injury. Given the limited number of studies on the relationship between rituximab and SMPDL-3b, this study was conducted to assess whether SMPDL-3b levels in pretreatment renal biopsy specimens can be used to predict the clinical effectiveness of immunosuppressive drugs, especially rituximab, in children with nephrotic syndrome. METHODS: Kidney biopsy specimens from 44 patients diagnosed with idiopatic nephrotic syndrome were analyzed using immunohistochemical staining with an anti-SMPDL-3b antibody and real-time polymerase chain reaction (PCR) for SMPDL-3b mRNA expression. RESULTS: We showed that SMPDL-3b mRNA expression and anti-SMPDL-3b antibody staining did not differ significantly between the patient groups with different responses to immunosuppressive therapies. CONCLUSION: Our results suggest that SMPDL-3b may actually be an indicator of disease progression rather than a marker for predicting response to a particular immunosuppressive agent.


Subject(s)
Nephrotic Syndrome , Child , Humans , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/genetics , Rituximab/adverse effects , Sphingomyelin Phosphodiesterase/genetics , Sphingomyelin Phosphodiesterase/metabolism , Sphingomyelin Phosphodiesterase/therapeutic use , Immunosuppressive Agents/therapeutic use , Kidney/metabolism , Biopsy , RNA, Messenger/therapeutic use
4.
Anim Biotechnol ; 27(4): 238-44, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27565867

ABSTRACT

Utilizing RNA-seq data, 1,574 candidate genes with alternative splicing were previously identified between two chicken lines that differ in Marek's disease (MD) genetic resistance under control and Marek's disease virus infection conditions. After filtering out 1,530 genes with splice variants in the first or last exon, 44 genes were screened for possible exon loss or gain using PCR and gel electrophoresis. Consequently, 7 genes exhibited visually detectable differential expression of splice variants between lines 6 (MD resistant) and 7 (MD susceptible), and the resultant PCR products verified by DNA sequencing. Birds from inbred line 6 have transcripts that preferentially retain an exon compared to line 7 chickens for ITGB2, SGPL1, and COMMD5. Birds from inbred line 7 have alleles that preferentially retain an exon compared to line 6 for MOCS2. CCBL2 exon 1a is absent and ATAD1 exon 2 is truncated by 87 nucleotides in transcripts expressed by line 7 compared to those from line 6. For CHTF18, line 6 transcripts have an indel mutation with 7 additional nucleotides in exon 21 compared to line 7. The current study validates 7 genes with alternatively spliced isomers between the two chicken lines, which helps provide potential underlying mechanisms for the phenotypic differences.


Subject(s)
Alternative Splicing/genetics , Chickens/genetics , Disease Resistance/genetics , Marek Disease/genetics , Animals
5.
Biochem Med (Zagreb) ; 22(1): 109-13, 2012.
Article in English | MEDLINE | ID: mdl-22384525

ABSTRACT

INTRODUCTION: The aim of this study was to investigate whether serum levels of interleukin-1beta (IL-1beta) has any possible correlation on inflammatory parameters such as C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and fibrinogen concentration in patients with familial Mediterranean fever (FMF) patients during attack-free period. MATERIALS AND METHODS: The serum levels of IL-1beta, as an indicator of cytokines status, and the acute phase response proteins, CRP, ESR and fibrinogen levels were evaluated in 35 attack-free patients with FMF and 25 healthy volunteers. RESULTS: Serum IL-1beta levels were significantly higher in patients with FMF than control subjects (P = 0.018). There was no statistically significant difference in the serum levels of ESR, CRP and fibrinogen between two groups (P = 0.181, P = 0.816, P = 0.686, respectively). There was a significant correlation between IL-1beta and CRP (r = 0.513, P = 0.002) values of FMF group. CONCLUSIONS: In conclusion, our results confirm the presence of increased IL-1beta levels in FMF patients during attack-free period. Serum IL-1beta values seems to correlate with CRP levels. The elevation of IL-1beta levels may be important in monitoring subclinical inflammation of attack free period in FMF patients.


Subject(s)
Acute-Phase Proteins/metabolism , Acute-Phase Reaction/blood , C-Reactive Protein/metabolism , Familial Mediterranean Fever/blood , Interleukin-1beta/blood , Adult , Blood Sedimentation , Case-Control Studies , Female , Fibrinogen/metabolism , Humans , Male , Middle Aged , Young Adult
6.
Biochem Genet ; 46(7-8): 480-91, 2008 Aug.
Article in English | MEDLINE | ID: mdl-18500550

ABSTRACT

The genetic diversity of the Turkish native chicken breeds Denizli and Gerze was evaluated with 10 microsatellite markers. We genotyped a total of 125 individuals from five subpopulations. Among loci, the mean number of alleles was 7.5, expected heterozygosity (H (e)) was 0.665, PIC value was 0.610, and Wright's fixation index was 0.301. H (e) was higher in the Denizli breed (0.656) than in the Gerze breed (0.475). The PIC values were 0.599 and 0.426 for Denizli and Gerze, respectively. A phylogenetic tree was constructed using genetic distance and the neighbor-joining method. Its topology reflects the general pattern of genetic differentiation among the Denizli and Gerze breeds. The present study suggests that Denizli and Gerze subpopulations have a rich genetic diversity. The information about Denizli and Gerze breeds estimated by microsatellite analysis may also be useful as an initial guide in defining objectives for designing future investigations of genetic variation and developing conservation strategies.


Subject(s)
Chickens/genetics , Genetic Variation , Microsatellite Repeats , Alleles , Animals , Chickens/classification , Genetic Markers , Phylogeny , Turkey
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