Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B.

Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and renal resistance to the action of the parathyroid hormone. Type 1A (PHP1A), which is the most common variant, also include developmental and skeletal defects named as Albright hereditary osteodystrophy (AHO). We present two cases, a 54- and a 33-year-old male diagnosed with PHP who were referred to us for persistently high levels of serum calcitonin. AHO and multinodular goitre were present in the 54-year-old male, while the second patient was free of skeletal deformities and his thyroid gland was of normal size and without nodular appearance. We performed GNAS molecular analysis (methylation status and copy number analysis by MS-MLPA) in genomic DNA samples for both patients. The analysis revealed a novel missense variant c.131T>G p.(Leu44Pro) affecting GNAS exon 1, in the patient with the clinical diagnosis of PHP1A. This amino acid change appears to be in accordance with the clinical diagnosis of the patient. The genomic DNA analysis of the second patient revealed the presence of the recurrent 3-kb deletion affecting the imprinting control region localised in the STX16 region associated with the loss of methylation (LOM) at the GNAS A/B differentially methylated region and consistent with the diagnosis of an autosomal dominant form of PHP type 1B (PHP1B). In conclusion, hypercalcitoninaemia may be encountered in PHP1A and PHP1B even in the absence of thyroid pathology. Learning points: We describe a novel missense variant c.131T>G p.(Leu44Pro) affecting GNAS exon 1 as the cause of PHP1A. Hypercalcitoninaemia in PHP1A is considered an associated resistance to calcitonin, as suggested by the generalised impairment of Gsα-mediated hormone signalling. GNAS methylation defects, as in type PHP1B, without thyroid pathology can also present with hypercalcitoninaemia.

Relationship of uric acid levels with clinical outcomes in severe ischemic stroke patients treated with intravenous recombinant tissue plasminogen activator / 中华全科医师杂志

One hundred and seventy six consecutive patients with acute ischemic stroke who received intravenous recombinant tissue plasminogen activator ( rt-PA ) in 4.5 hours from symptom onset during February 2009 to July 2013 were included in the study.Modified Rankin Scale was used to evaluate the recovery of neurological functions.Patients were divided into good ( 0 -1 ) or poor ( 2 -6 ) outcome groups according modified Rankin Scale score.Univariate analysis and multivariate logistic regression analysis were used to determine the differences of clinical data between the two groups.The age of patients with good outcome was significantly lower than that of poor outcome group [ ( 61.4 ±11.5 ) vs.( 69.0 ± 13.2) years,P =0.000].Compared to patients with poor outcomes, patients with good outcome group showed lower rate of diabetes [ 13%( 12/93 ) vs.29%( 24/83 ) , P =0.009 ] , lower blood glucose level [(5.05 ±0.97) vs.(5.83 ±1.72) mmol/L,P=0.020], higher uric acid level[(404.4 ±151.7) vs.(345.6 ±107.5) μmol/L,P=0.028],shorter onset to treatment time [(1.92 ±0.94) vs.(2.30 ±1.01) h, P=0.019],lower baseline National Institute of Health Stroke Scale score [(14.0 ±5.2) vs.(16.0 ± 6.2),P=0.025],lower systolic blood pressure level at 2 h[(140.8 ±18.3) vs.(149.0 ±18.9) mmHg (1 mmHg=0.133 kPa),P=0.005]and 24 h [(137.6 ±21.9) vs.(147.1 ±17.4) mmHg,P=0.009] after thrombolysis.Logistic regression analysis showed that uric acid levels were not related to hemorrhagic transformation independently (P =0.172,OR =0.965,95%CI:0.917 -1.016), but were related to outcome independently (P=0.047,OR=0.957,95%CI:0.916-0.999).

The effect of hyperuricemia on inflammation and endothelin-1 production in hypertensive patients / 中国医师杂志

Objective To investigate the effect of hyperuricemia(HUA) on inflammation and endothelin-1 (ET-1) production and treatment of Benzbnomanone in hypertensive patients.Methods 90 initial hypertensive patients were enrolled from the inpatient division and clinic of our hospital,60 patients of them were identified HUA,and 30 patients were normal in uric acid as control.All these hypertensive patients with HUA were treated with basic anti-hypertensive drugs,of them 30 patients were additionally treated with Benzbromarone table 50mg for 8 weeks.The levels of inflammation indices and ET-1 were compared between these hypertensive patients with HUA and hypertensive patients with normal serum uric acid,also hypertensive patients with HUA treated with or without Benzbromarone for 8 weeks.Results Compared with the hypertensive patients with normal serum uric acid,levels of ET-1,interleukin-1 (IL-1) and high-sensitive C reactive protein (hsCRP) were higher in the hypertensive patients with HUA.Also,the levels of these indices were positively correlated with the level of serum uric acid [(86.6 ± 4.8) pg/ml vs (82.4 ±6.9)pg/ml; (47.6 ±6.2)mg/L vs (19.1 ±4.1) mg/L; (3.4 ±0.8)mg/L vs (2.9 ± 1.1)mg/L,r =0.81,0.74,0.83,all P ＜ 0.05].Benzbromarone could effectively decrease the levels of ET-1,IL-1and hsCRP in the hypertensive patients with HUA [(49.8 ± 5.0) pg/ml vs (87.5 ± 5.9) pg/ml ; (17.6 ±8.8) mg/L vs (48.2 ± 7.0) mg/L; (1.7 ± 0.7) mg/L vs (3.5 ± 0.9) mg/L,all P ＜ 0.05].Conclusions HUA could increase the levels of inflammation and ET-1,while Benzbromarone effectivelv decreased these changes.Decreasing the level of serum uric acid would retard the process of atherosclerosis in the hypertensive patients with HUA.

Study on the relationship between uric acid and various cognitive functions in Alzheimer's disease / 中国医师杂志

Objective To study the relationship between uric acid and various cognitive functions in Alzheimer's disease (AD).Methods A total of 46 patients with AD and 50 people without cognitive disorder were selected.Plasma uric acid,MOCA,and ADL were measured.Results The mean level of plasma uric acid was (217.93 ± 67.91 )μmol/L in ADs,and (337.02 ± 59.70) μmol/L in controls.The mean level of uric acid was significantly lower in the blood of patients with AD than control with a statistically significant difference ( t =9.142,P ＜0.01 ).Multiple regression analysis revealed that low uric acid,age,educated years,and hypertension were related to cognitive function( P ＜0.01,P ＜0.05 ).Partial correlation analysis revealed uric acid was significantly related to memory ( r =0.457,P =0.002),and attention ( r =0.398,P =0.008).Conclusions Low levels of uric acid may have influence on the occurrence and development of cognitive function impairment in AD.Uric acid may have more influence on the memory and attention in patients with AD.

Relationship between serum uric acid,blood lipids and blood pressure in obesity children / 国际检验医学杂志

Objective To investigate relationship between serum uric acid, blood lipids and blood pressure in obesity children.Methods 71 obese volunteers were selected as obesity group and 30 normal volunteers who matched obese volunteers in age and sex as control group from 13 702 children in Xiangtan city by sampling survey. Their body mass index(BMI), systolic and diastolic blood pressure(SBP,DBP),serum uric acid(UA), high-sensitive C-reactive protein(hs-CRP) and blood lipids were checked respectively. Then ,the difference between the two groups was compared and the relationship of all indexes was analyzed, then the difference between the two groups was compared and the relationship of all indexes was analyzed.Results The values of serum UA,hs-CRP, triglyceride(TG),low density lipoprotein cholesterol(LDL-C) and apolipoprotein B(apoB) in obesity group were significantly higher than those in control group (P