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81.
Ahmar U. Zaidi Prabhakar Kedar Prasad Rao Koduri Gerard W. Goyette Jr. Steven Buck Donald E. Paglia 《Pediatric hematology and oncology》2017,34(8):449-454
After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses. Exome sequencing studies showed a homozygous c.1018C>T (Pro340Ser) mutation in exon 12 of the glucose phosphate isomerase gene and later confirmed by direct sequencing. This mutation has not been previously described. To our knowledge, this is also the first known homozygous mutation in the hydrophobic core of the protein and is a highly deleterious mutation by in silico analysis and by clinical history in the family. Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency. 相似文献
82.
The effects of depression and age on the Horne-Ostberg morningness-eveningness score. 总被引:1,自引:0,他引:1
Effects of depression and age on the Horne-Ostberg morningness-eveningness scale in human volunteers were assessed. Thirty-nine healthy outpatients with current DSM-IIIR depression, free of recent substance abuse or confounding medications, were compared to 39 age- and sex-matched controls. Patients reported greater 'eveningness' than controls (P = 0.014, Wilcoxon signed-ranks test). There was multimodality in the distribution of Horne-Ostberg scale scores in the depressed group, but a normal distribution in controls. Pearson's correlation of age vs. Horne-Ostberg score was positive (r = 0.42-0.55). Depression and age influence the Horne-Ostberg score. Potential multimodality of circadian phase in the depressed group deserves further study. 相似文献
83.
Depression, automatic thoughts, alexithymia, and assertiveness in patients with tension-type headache 总被引:1,自引:0,他引:1
OBJECTIVE: The role of psychological factors related to headache has long been a focus of investigation. The aim of this study was to evaluate depression, automatic thoughts, alexithymia, and assertiveness in persons with tension-type headache and to compare the results with those from healthy controls. METHODS: One hundred five subjects with tension-type headache (according to the criteria of the International Headache Society classification) and 70 controls were studied. The Beck Depression Inventory, Automatic Thoughts Scale, Toronto Alexithymia Scale, and Rathus Assertiveness Schedule were administered to both groups. Sociodemographic variables and headache features were evaluated via a semistructured scale. RESULTS: Compared with healthy controls, the subjects with headache had significantly higher scores on measures of depression, automatic thoughts, and alexithymia and lower scores on assertiveness. Subjects with chronic tension-type headache had higher depression and automatic thoughts scores than those with episodic tension-type headache. CONCLUSIONS: These findings suggested that persons with tension-type headache have high depression scores and also may have difficulty with expression of their emotions. Headache frequency appears to influence the likelihood of coexisting depression. 相似文献
84.
Sibel Caglar Okur Yasemin Pekin Dogan Murat Mert Ozge Aksu Ozer Burnaz Nil Sayiner Caglar 《中华民国医用超音波学会杂志》2017,25(3):150-156
Objective
The prevalence of musculoskeletal complications in diabetes mellitus (DM) increases with the duration of disease and with poor glycemic control. Our aim was to evaluate lower extremity musculoskeletal complications in patients with DM using the Glasgow Ultrasound Enthesitis Scoring System, and to reveal the relationship between clinical and sonographic findings.Materials and methods
A total of 67 patients (25 men, 42 women) with DM were included in the study. All the diabetic patients were selected if they did not have any symptom of musculoskeletal system in the lower extremities. They were divided into four groups. Ultrasonographic assessment was performed according to the Glasgow Ultrasound Enthesitis Scoring System with an Esaote MyLab 5 device equipped with a 5–13 MHz linear transducer. Correlation between diabetes duration and lower extremity enthesopathy scores were evaluated.Results
There was a significant correlation between duration of DM and total Glasgow Ultrasound Enthesitis Scoring System scores (p < 0.001). In addition, duration of DM was significantly correlated with enthesophyte scores and erosion scores (both p < 0.001). There was a significant difference among Groups 1–4 for the mean enthesophyte score and mean erosion score (both, p < 0.001).Conclusion
Musculoskeletal ultrasonography is an effective, inexpensive, and useful tool without radiation for evaluating diabetic patients for the early diagnosis of musculoskeletal complications. 相似文献85.
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88.
Chronic nonspherocytic hemolytic anemia has been observed in a recently described glucose-6-phosphate dehydrogenase (G6PD) variant, G6PDWayne. The mechanical properties of these erythrocytes and other G6PD variants were examined. The deformability of G6PD-deficient erythrocytes was normal, as determined by osmotic scan ektacytometry, and was not significantly affected by hemolytic crisis. In the common varieties of G6PD deficiency, the mechanical stability of the red blood cell (RBC) membrane was greater than normal, but G6PDWayne membranes were abnormally susceptible to shear-induced fragmentation. There was no evidence for a concurrent genetic defect in spectrin, because self- association constants and tryptic digests were normal. The fragility of G6PDWayne membranes appeared to be a consequence of oxidative damage to membrane thiol groups associated with a low glutathione (GSH) level in these RBCs. Associations among GSH level, thiol oxidation, and membrane instability were also found when a larger group of G6PD-deficient RBCs were examined. In normal erythrocytes, 1-chloro-2,4-dinitrobenzene was used to reduce GSH levels by 50%. Membrane thiol oxidation and membrane fragility both increased when these cells were kept at 4 degrees C for 3 to 5 days. Our findings suggest that chronic depletion of GSH leads to the destabilization of membrane skeleton through oxidation of membrane protein thiols. 相似文献
89.
Molecular pathogenesis of inflammatory bowel disease: Genotypes,phenotypes and personalized medicine
Philippe Goyette Catherine Labbé Truc T. Trinh Ramnik J. Xavier John D. Rioux 《Annals of medicine》2013,45(3):177-199
Crohn's disease (CD) and ulcerative colitis (UC), also known as inflammatory bowel diseases (IBD), are characterized by chronic inflammation of the gastrointestinal tract. IBD is among the few complex diseases for which several genomic regions and specific genes have been identified and confirmed in multiple replication studies. We will review the different loci implicated in disease risk in the context of three proposed mechanisms leading to chronic inflammation of the gut mucosa: 1) deregulation of the innate immune response to enteric microflora or pathogens; 2) increased permeability across the epithelial barrier; and 3) defective regulation of the adaptive immune system. As our knowledge of genetic variation, analytical approaches and technology improves, additional genetic risk factors are expected to be identified. With the identification of novel risk variants, additional pathophysiological mechanisms are likely to emerge. The resulting discoveries will further our molecular understanding of IBD, potentially leading to improved disease classification and rational drug design. Moreover, these approaches and tools can be applied in the context of variable drug response with the goal of providing more personalized clinical management of patients with IBD. 相似文献
90.