A novel heterozygous missense mutation of Trp1220Gly in the insulin receptor gene associates with type A insulin resistance syndrome: A case report / 中华内分泌代谢杂志

We report a case of type A insulin resistance syndrome. A 16-year-old girl with BMI of 19.1 kg/m 2 presented with primary amenorrhea and hyperglycemia for two years. Baseline HbA 1C was 10.8%, along with severe hyperinsulinemia, increased total testosterone and free androgen index(FAI). Ultrasonography showed polycystic ovaries. Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene. Short-term intensive insulin pump treatment was initiated, followed by insulin glargine, pioglitazone and acarbose combination regiment. Fasting blood glucose and insulin levels decreased significantly, but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory. HbA 1C dropped to 7.6% at 1-year follow up. Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome. Currently, there is no standardized treatment protocol, and therapy should be individualized based on the specific gene mutation of each patient.

Diagnostic strategy of primary aldosteronism based on CT scan and serum potassium level / 中华全科医师杂志

One hundred and forty-five patients with primary aldosteronism (PA) admitted from 2006 to 2013 were enrolled in the study. The diagnosis of PA was confirmed by upright furosemide test and all patients met the following criteria: ① round-or oval-shaped lesion of low density with diameter>1 cm in one adrenal gland shown in contrast CT scan; ② no lesion or abnormality in contralateral adrenal gland; ③serum potassium level<3.5 mmol/L. Of 145 patients, 106 underwent total adrenalectomy, 36 partial adrenalectomy and 3 tumor enucleation. Serum potassium was (2.75±0.55) mmol/L before and (4.03±0.46) after surgery. Potassium was normalized after treatment in 141 cases (97.2％) with correction or improvement in hypertension; 4 patients (2.8％) remained hypokalemic and received spironolactone. Patients with normalized potassium were followed up for a medium period of 74 months (22—103 months), of whom 32 (22.7％) dropped off; the remaining 109 (77.3％) patients did not have hypokalemia. Multivariate linear correlation analysis showed that serum potassium level was negatively correlated with tumor diameter (r=?0.273,95％ CI:?0.086—?0.564, P=0.026) and basal serum aldosterone level (r=?0.261,95％ CI:?0.047— ?0.514, P=0.036). In PA patients with unilateral adrenal macroadenoma and hypokalemia, satisfactory surgical resolution can be achieved without adrenal venous sampling in majority of patients.

Effects of Enhanced External Counterpulsation on Diabetic Retinopathy / 中国康复理论与实践

@#Objective To observe the effect of enhanced external counterpulsation (EECP) on diabetic retinopathy (DR). Methods 179 patients who accepted EECP combined with medication were as group A and the other 190 patients who accepted medication only were as group B. Their visual acuity, fundus fluorescein angiography (FFA) and optical hemodynamics were compared. Results There was significant improvement in group A with visual acuity, FFA and optical hemodynamics (P<0.05), and the incidence of improvement was more in group A than in group B (P<0.05). Conclusion EECP is effective on diabetic retinopathy.

Clinical analysis for 51 cases of primary hyperparathyroidism / 中华全科医师杂志

Objective To study clinical characteristics,causes of misdignosis and diagnostic and therapeutic methods for primary hyperparathyroidism (PHPT).Methods Retrospective analysis was done for 51 patients of PHPT,47 confirmed by biopsy after surgical operation and 4 without operation diagnosed based on their serum levels of calcium,alkaline phosphatase ( ALP),intact parathyroid hormone ( iPTH ),and computed tomography (CT) or 99mtechnetium sestamibi (99mTcMIB1) imaging at the First Affiliated Hospital of Sun Yat-sen University,Guangzhou during June 1997 to November 2010.Results Bone-related complications were the most common clinical manifestation,accounting for 51％ (26/51 ) of the cases,and adenoma,a benign,enlarged and hyperactive parathyroid gland,in 34 of 47 cases ( 72％ ).In orthotopic lesions,the right inferior was affected in 19 of 46 cases (41％),followed by the left inferior in 13 cases (28％),while 5 of 51 cases (10％) with ectopic parathyroid gland.PHPT was easily misdiagnosed as urolithiasis,rheumatic disease,primary osteoporosis,etc,accounting for 92％ of the cases in our study.Preoperative serum levels of calcium,ALP and iPTH in the patients varied with their clinical type and pathological classification,the highest in patients with urolithiasis-bone-related complications [ (3.22 ±0.35) mmol/L,(1455 ± 1091 ) U/L and (1669 ± 515 ) ng/L,respectively ] and in patients with parathyroid carcinoma [ (3.46 ± 0.40) mmol/L,( 1410 ± 426) U/L and ( 1861 ± 768) ng/L,respectively ].Sensibility of preoperative localization diagnosis using ultrasonography,CT and 99mTcMIBI was 88％ (35/40),97％ (30/31) and 97％ (31/32),respectively.Conclusions PHPT is frequently misdiagnosed as other diseases.Measurement of serum calcium should be included in routine physical examinations,supplemented with measurement of serum ALP and iPTH,as well as medical imaging,which can help avoid misdiagnosis.CT combined with 99mTcMIBI imaging can improve accuracy of preoperative localization diagnosis.