ABSTRACT
Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.
Subject(s)
Bartter Syndrome , Kidney Calculi , Potassium Channels, Inwardly Rectifying , Child , High-Throughput Nucleotide Sequencing , Humans , Male , Mutation , Potassium Channels, Inwardly Rectifying/geneticsABSTRACT
Background: Middle-aged and elderly perimenopausal women are prone to developing BPPV without definite cause. Objectives: This study aimed to investigate the correlation between bone mineral density (BMD), 25-(OH) vitamin D, and serum calcium levels in patients with benign paroxysmal positional vertigo (BPPV) in middle-aged and elderly women.Material and methods: A total of 103 women with two or more recurrent BPPV episodes (group A) and 80 age-matched healthy controls (group B) were recruited. All subjects had BMD and serum 25-(OH) D levels measurements taken, and the results were compared.Results: BMD was reduced in group A, and the proportion of osteoporosis was higher than in group B (p = .039). The BMD T-score and 25-(OH) vitamin D level were lower in group A than in group B (p = .004 and p < .0001, respectively). In group A, the BMD T-score was lower (p = .017) and serum 25-(OH) vitamin D level was higher (p < .0001) in premenopausal women than in menopausal women.Conclusions and Significance: Our study found that middle-aged and elderly women with recurrent BPPV, especially postmenopausal women, may present decreased BMD and serum vitamin D levels.
Subject(s)
Benign Paroxysmal Positional Vertigo/blood , Bone Density , Calcium/blood , Vitamin D/blood , Aged , Aged, 80 and over , Case-Control Studies , Female , Humans , Middle Aged , RecurrenceABSTRACT
As an ability critical for adaptive social living, behavioral inhibitory control (BIC) is known to be influenced substantially by unpleasant emotion. Nevertheless, how unpleasant emotion of diverse strength influences this control, and the spatiotemporal dynamics underlying this influence, remain undetermined. For this purpose, Event-related potentials (ERPs) were recorded for standard stimulus which required no BIC, and for deviant stimuli that required controlling habitual responses, during highly unpleasant (HU), mildly unpleasant (MU) and Neutral blocks. The results showed delayed response latencies for deviant compared to standard stimuli, irrespective of emotionality. Moreover, there were significant main effects of stimulus type, and significant stimulus type and block interaction effects on the averaged amplitudes of the 230-310 ms and 330-430 ms intervals. In the deviant-standard difference waves which directly index BIC-relevant processing, these interactions were manifested by increased negative potentials as a function of the strength of unpleasant emotion across N2 and P3 components. In addition, these influences are specific to unpleasant emotion, as pleasant emotion of diverse strength produced a similar impact in the control experiment. Therefore, unpleasant emotion of diverse strength is different in impact on brain processing of behavioral inhibitory control. This impact is evident not only in early monitoring of response conflicts, but also in late processing of response inhibition.
Subject(s)
Brain Mapping , Brain/physiology , Emotions/physiology , Evoked Potentials/physiology , Inhibition, Psychological , Reaction Time/physiology , Adult , Analysis of Variance , Arousal , Electroencephalography , Female , Humans , Male , Photic Stimulation , Principal Component Analysis , Young AdultABSTRACT
OBJECTIVE: To study on pharmacologic actions on quail hyperlipidemia and atherosclerosis model. METHOD: To duplicate quail hyperlipidemia model by ectogenesis cholesterol and high fat forage, induce to atherosclerosis model, observe influence of sugarcane alkane alcohol to model animals' blood fat level, formation of atherosclerosis plaque, pathological changes of coronary vessels and vascular intimal. RESULT: TC, TG, LDL-C level in blood serum of quail hyperlipidemia markedly decreased after administered sugarcane alkane alcohol by dose of 30, 15, 7.5 mg x kg(-1), proliferation of aorta and brachiocephalic artery tunica intima foam cells was suppressed. CONCLUSION: Sugarcane alkane alcohol has satisfactory pharmacologic actions on hyperlipidemia and atherosclerosis animal model by regulating blood fat.
