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Objective To analyze the clinical characteristics of pseudohypoparathyroidism ( PHP ) inpatients in our hospital from January 2008 to December 2017 and to gain a better understanding of this disorder. Methods 18 inpatients diagnosed as sporadic PHP in our hospital were analyzed retrospectively, as regarding the clinical manifestation, laboratory examination and imaging data. Results 18 inpatients were diagnosed sporadic PHP consisting of 12 males and 6 females, with 13 adults and 5 child participants respectively. The medium age of onset was 14 (6-57), and the average age at diagnosis was (24.9± 14.7) years old. Initial onset of symptoms reported were: 12 patients complained of tetany, 3 reported convulsions, 1 reported numbness, 1 reported dysnoesia, and 1 were asymptomatic. Among them: 3 patients were found to have short distal phalanx, 7 displayed a round face, and 3 out of 15 adults were less than 155 cm in height. 12 patients had a positive Trousseau sign, 1 had an ectopic calcification. 11 were found to have intercranial massive calcifications by head computed tomography. Serum calcium was reported at (1.58 ± 0.11) mmol/ L and parathyroid hormone was (359.5 ± 146.6) pg/ ml. 3 patients were discovered to have hypothyroidism, 2 had been misdiagnosed with epilepsy, and 1 with encephalitis. Conclusions Tetany and intracranial calcifications were the most common signs of PHP patients. A number of the PHP cases in this study lacked typical Albright's Hereditary Osteodystrophy ( AHO) appearance. The age of onset and or duration of the disease varied somewhat in the different patient populations. The heterogeneity nature of the clinical manifestations of PHP makes it difficult to diagnose. It is therefore important to make accurate differential diagnosis of PHP to avoid misdiagnosis of the condition.
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<p><b>OBJECTIVE</b>To detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI).</p><p><b>METHODS</b>Clinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced.</p><p><b>RESULTS</b>The patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation.</p><p><b>CONCLUSION</b>The congenital NDI in the patient was probably due to mutation of the AVPR2 gene.</p>
Subject(s)
Adolescent , Female , Humans , Male , Base Sequence , DNA Mutational Analysis , Diabetes Insipidus, Nephrogenic , Genetics , Exons , Genetics , Family Health , Genetic Predisposition to Disease , Genetics , Mutation , Pedigree , Receptors, Vasopressin , GeneticsABSTRACT
Objective To assess the improvements of left ventricular systolic function by three‐dimensional speckle tracking imaging ( 3D‐STI) in type 2 diabetes mellitus ( T2DM ) patients after short‐term insulin pump intensive therapy . Methods Thirty‐five T2DM patients complicated with microangiopathy and thirty‐two healthy volunteers were studied ,underwent the dynamic image of the four‐chamber view ,three‐dimensional images of left ventricle were obtained for all the individuals . The left ventricular global longitudinal strain ( LVGLS) ,left ventricular global circumferential strain ( LVGCS) ,left ventricular ejection fraction (LVEF) ,peak basal and apical rotation (LV‐ProtB ,LV‐ProtA) ,peak LV twist ( LV‐tw ) were calculated using TomTec software .After insulin pump intensive therapy for two weeks ,all the indexes were reexamined in T2DM patients . Results Compared with control group ,the LVGLS , LVGCS ,LV‐tw and LV‐ProtA were significantly decreased in diabetes mellitus group before and after treatment ( P < 0 .01 or P < 0 .05) . Compared with diabetes mellitus patients before treatment ,the LVGLS ,LVGCS had significant higher level after treatment( P <0 .05) . The LVGLS ,LVGCS ,LV‐tw and LV‐ProtA were significantly correlated with LVEF in type 2 diabetes mellitus patients and normal controls . Conclusions Insulin pump intensive treatment could improve left ventricular systolic function in type 2 diabetes patients complicated with microangiopathy . 3D‐STI can be sensitive to accurately assess the therapeutic effect and has the important clinical value .
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Objective To investigate the effects of metformin on plasma ghrelin and peptide YY (PYY)levels in newly-diagnosed type 2 diabetic patients,and to study the impact of metformin on body weight.Methods A prospective nested case-control study was designed as a research protocol.Sixty four newly-diagnosed type 2 diabetic patients were treated with metformin for 12 weeks.The patients were divided into two groups:weight loss group and non-weight loss group according to the changes in body weight after metformin treatment.Fasting plasma ghrelin and PYY levels and other metabolic parameters were measured before and after metformin treatment.ResultsFasting plasma ghrelin level was significantly decreased in the patients after metformin treatment [ ( 10.71 ±2.68 vs 11.81 ±3.19 )ng/ml,P＜0.05 ].Fasting plasma PYY level was significantly increased in patients after metformin treatment [ ( 136.86+39.14 vs 128.42+37.31 ) pg/ml,P＜0.05 ].After metformin treatment,43.7％ of the patients lost body weight significantly.Fasting plasma ghrelin level was decreased by 16.6％ after treatment in the weight loss group,as compared with 6.2％ in non weight loss group( P＜0.05 ).Fasting plasma PYY level was increased by 10.8％ after treatment in the weight loss group,as compared with 3.5％ in the non-weight loss group (P ＜ 0.05 ).Conclusions The fasting plasma ghrelin level in the weight loss group was lowered more significantly compared with that in the non-weight loss group after metformin treatment.The fasting plasma PYY level in the weight loss group was elevated more significantly as compared with that in the non-weight loss group after metformin treatment.The mechanism remains to be further studied.
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Objective To investigate the effects in elasticity of anterior tibial artery in new patients with type 2 diabetes caused by medicines of reducing blood sugar. Methods One hundred patients with type 2 diabetes were involved. The patients were divided into control group(50 cases) and case group(50 cases) according the vascular complications (including macroangiopathy and microangiopathy). Maxmum of circumferential strain(CSmax) of anterior tibial artery was acquired through strain and strain rate imaging. Local blood pressure which included local systolic blood pressure(LSBP) and local diastolic blood pressure (LDBP) of anterior tibial artery was measured at the same time. Strain-blood pressure index(SBPI) of anterior tibial artery was calculated, SBPI = CSmax/[(LSBP - LDBP)/LDBP] × 100%. It took six months for each patient to take medicines of reducing blood sugar. Then SBPI of anterior tibial artery was calculated again. Parameters were compared inter- and intra-groups. Results SBPI of anterior tibial artery after therapy was higher than that before therapy in control group( P0. 05). SBPI of anterior tibial artery in case group was lower than that in control whatever before and after therapy( P < 0. 05). Conclusions The protection of medicines of reducing blood sugar on elasticity of anterior tibial artery in new diabetic patients without vascular complications was better.
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Objective To study the levels of serum acute-phase proteins,interleukin-6(IL-6) and tumor necrosis factor-?(TNF-?) in different stages of diabetic nephropathy in type 2 diabetes mellitus(T2DM) and to explore the clinical significance.Methods One hundred and five patients with T2DM diagnosed by WHO(1999) criteria were divided into three subgroups according to their urinary albumin excretion rate(UAER): 34 cases normal UAER group(NA group),31 cases microalbuminuria group(MA group) and 30 cases clinical proteinuria group(CA group).Thirty-three healthy individuals were selected as controls(NC group).The levels of acute-phase proteins including C reactive protein(CRP),?_1-acid glycoprotein(?_1-AAG),ceruloplasmin(CER) and haptoglobin(THP) were measured with immunoscattering assay,The levels of IL-6 and TNF-? were detected with electrochemiluminescence immunoassay.Results The levels of serum acute-phase proteins,IL-6,TNF-? were significantly higher in patients with T2DM than those in NC group(all P