Objective To study the clinical characteristics of primary hypoparathyroidism in adults.Methods The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively.Among them, 128 cases were followed up for a median period of 3 years.Results The major manifestations at their first visits were tetany and numbness in the distal extremities (81.5%,163/200 and 62.0%, 124/200).Thirty-two percent of the cases (62 cases) had history of seizures, and 60.9%( 98/161 ) and 74.4% ( 96/129 ) of them were with intracerebral calcifications and cataracts , respectively.Most of subjects(155/200)had more than one year delay in diagnosis.Hypercalciuria occurred in 67.2%( 86/128 ) of the cases during the follow-up.No significant differences in the clinical characteristics and biochemical markers between the hypercalciuria subjects and the non -hypercalciuria subjects.Renal nephrocalcinosis or stones were found in 6.5%( 5/77 ) of the cases , and kidney function decreased in 6.6%(6/91) of the patients.Kidney function was negatively associated with age and duration of disease.Conclusions The predominant manifestations of primary hypoparathyroidism in adults included tetany and numbness in the distal extremities and seizures .It is often misdiagnosed.Calcium supplement combined with vitamin D or its metabolites effectively relieve clinical symptoms and signs.The serum and urinary calcium levels should be monitored frequently to reduce renal complications .

Objective To explore the clinical application value of dual-energy CT angiography (DECTA) for head and cervical vessel diseases. Methods The imaging data and diagnosis results of 146 patients suspected as having head and cervical vascular diseases and underwent DECTA in our hospital from February 2009 to August 2009 were analyzed, retrospectively and compared. Sixteen of them with positive results were also performed whole cerebral vessels DSA. Results Seventy-seven patients (52.74%) were found to have head and cervical vessel diseases under DECTA; 17 patients were diagnosed as having intracranial aneurysm, 13 with carotid artherosclerosis and stenosis, 13 with intracranial and vertebral artery stenosis, 9 with intracranial arteriovenous malformation (AVM), 7 with internal carotid artery (ICA) or vertebral artery occlusion, 4 with neck-face AVM, 3 with Moyamoya disease, 3 with intracranial tumors, 2 with cerebral infarction, 2 with intracranial phlebothrombosis, 1 without imaging in bilateral ICA, 1 with Sturg-Webber syndrome and 1 with primitive trigeminal artery.DSA results were concordant with the DECTA results by finding 15 of 16 patients (93.75%) with head and cervical vessel diseases; 8 patients were detected as having intracranial aneurysm, 4 with ICA or vertebral artery occlusion, 1 with carotid artherosclerosis and stegnosis, 1 with intracranial AVM and 1 with neck-face AVM. The one that DSA did not find any tumors was noted as having 2 microaneurysms by CTA. Conclusion The head and cervical vascular diseases and the feeding artery of tumor can be demonstrated distinctly with DECTA with high diagnosis accuracy and sensitivity.

creatinine concentration. Conclusion Bisphosphonates can decrease serum total calcium levels in hypercalcemia crisis caused by PHPT effectivelywith mild adverse events.

Objective To observe the effects of enhanced exercise and combined vitamin D and calcium supplementation on muscular strength and fracture occurrence in postmenopausal women with a high risk of osteoporosis.Methods Totally 614 postmenopausal women at high risk factors of osteoporosis were enrolled in Dongcheng district of Beijing and randomized into four groups:group A(control group,n=173),group B(regular Tai Chi exercise,n=171),group C(calcium 600 mg/d+VitD800 U/d,n=139),and group D[calcium 600 mg/d+25 hydroxyl vitamin D(25OHD) 0.25 μg/d,n=131].Muscular strength was measured at baseline and one and two years after intervention.Bone turnover markers were measured at baseline and during the two-year follow-up.Falls and fractures were recorded.Results The incidence of 25OHD<50 nmol/L was approximately 92.6%.During the follow-up,the left grip strength decreased significantly two years after intervention(t=-3.252,P=0.001)in group A.Right grip strength decreased significantly in group B(t=2.460,P=0.015)while left grip strength improved significantly in group C(t=-2.051,P=0.043)one year after intervention.In group D,muscular strength in both 12-month and 24-month did not change compared with baseline(both P>0.05).Furthermore,serum procollagen type I N-terminal propeptide elevated significantly in group A(t=-2.962,P=0.004),group B(t=-2.888,P=0.005),and group C(t=-2.441,P=0.016),whereas β-C-terminal telopeptide of type I collagen decreased significantly in group B(t=2.285,P=0.024)and group D(t=2.596,P=0.011)two years after intervention.Conclusion Enhanced exercise and combined calcium vitamin D supplementation may help sustain muscle strength in postmenopausal women,while calcium and vitamin D supplementation may improve muscular strength within a short period of time.

0.05).Conclusion The distribution of G990R CASR genotype in PHPT patients is different from healthy women,and R allele is higher in PHPT group.Among PHPT patients,A986S and G990R polymorphisms are associated with serum calcium and ICa levels.Patients with S or G allele have lower levels of serum calcium and ICa.A986S genotype is also associated with serum PTH level and patients with S allele have relatively lower level of PTH.

Objective To explore the quality of life ( QoL ) and muscle strength in patients with pseudohypoparathyroidism ( PHP ) under regular treatment. Methods Twenty-three patients with PHP regularly followed at Peking Union Medical College Hospital from June 2017 to June 2018 were included. Age- and gender-matched 23 patients with nonsurgical hypoparathyroidism ( nHPT) and 23 healthy controls were also included. Short Form 36 Health Survey questionnaire version 2 ( SF36v2) were used to evaluate the QoL. Grip strength and repeated chair stand ( RCS) were used to assess muscle strength for upper and lower limbs respectively. Results Except for physical functioning, patients of PHP group had reduced scores in all other subdomains of SF36v2 compared to healthy controls ( P<0.05) . Comparing to nHPT patients, PHP patients had a higher score in social functioning, while no difference was found in other subdomains of SF36v2. Grip strength and RCS tests were similar in PHP patients and healthy controls. Conclusions Comparing to healthy controls, patients with PHP still had impaired QoL despite regular management, no significant difference of upper and lower limb muscle strength was found between PHP group and healthy controls.

To understand the characteristics of T cell receptors recognizing antiphospholipid syndrome associated antigen, the characteristics of T cells were analyzed using T cell receptor beta variable region (TCRbetaV) gene spectrotyping in a case of antiphospholipid syndrome (APS). The results indicated that in the case of APS there were 2 dominant T cell clones. The TCRbetaVs sequences of the 2 T cell clones showed the TCRbetaVs belonged to 8 and 23 gene families respectively. The peptides of third complementarity-determining regions (CDR3) in the TCRbetaVs were CASSLLVAGGPRAYNEQFFGPG and CASSLAGFGQPQHFGDG. Comparing the motifs in CDR3 with another autoimmune disease, the motif YNEQFFGPG in TCRbetaV8 and motif QHFGDG in TCRbetaV23 were identical with that of idiopathic thrombocytopenic purpura and systemic lupus erythematosus reported before. In conclusion, some T cell clones proliferating in these autoimmune diseases may recognize the same antigens.
Adult ; Antiphospholipid Syndrome ; immunology ; Autoantigens ; immunology ; Female ; Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor ; immunology ; Genes, T-Cell Receptor beta ; genetics ; immunology ; Humans ; Immunoglobulin Variable Region ; immunology ; Receptors, Antigen, T-Cell ; immunology

BACKGROUNDParathyroid hormone deficiency or resistance may cause hypocalcemia with related symptoms and signs. Lifelong treatment of calcium combined with vitamin D or its metabolites is always necessary for these patients. Here we reported a prospective and open-label trial to investigate the efficacy and safety of domestic-made calcitriol in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism.

METHODSTwenty-four patients with confirmed hypoparathyroidism or pseudohypoparathyroidism aged (36.5 +/- 11.0) years old were studied. Among them, 16 patients had idiopathic hypoparathyroidism, 2 had pseudohypoparathyroidism and 6 had hypoparathyroidism secondary to cervical surgery. Serum calcium levels were lower than 1.88 mmol/L. Oral calcitriol was administered twice or three times with elemental calcium 1.2 g per day. All patients were followed every 4 weeks throughout the 12-week period. Dose adjustments of calcitriol were based on serum and urinary calcium levels and symptoms of hypocalcemia.

RESULTSTwenty patients were included by the end of this study. Muscular weakness, cramps, extremity paresthesia, Chovestek's sign and Trousseau's sign were relieved in 76.9%, 100%, 94.4%, 93.3% and 78.9% of patients, respectively. Serum calcium, plasma ionized calcium and serum phosphorus levels were (1.54+/-0.25) mmol/L, (0.64+/-0.10) mmol/L and (2.00+/-0.46) mmol/L at baseline, and reached (2.20+/-0.20) mmol/L, (0.95+/-0.06) mmol/L and (1.68+/-0.25) mmol/L (P<0.01) at the 12th week of treatment, respectively. Eighty percent of patients were assessed as effective and 20% as partly effective. Three, four and eight patients had hypercalciuria at the 4th, 8th and 12th week of treatment, respectively, which were reduced by thiazide diuretics. The final dose of calcitriol was (1.09+/-0.50) microg/d.

CONCLUSIONSCalcitriol combined with calcium can be used in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism effectively and safely. Serum and urinary calcium levels should be monitored during the course of the therapy.

Adult ; Calcitriol ; adverse effects ; therapeutic use ; Calcium ; blood ; urine ; Female ; Humans ; Hypocalcemia ; blood ; drug therapy ; etiology ; urine ; Hypoparathyroidism ; blood ; complications ; urine ; Male ; Middle Aged ; Prospective Studies ; Pseudohypoparathyroidism ; blood ; complications ; urine

OBJECTIVETo identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.

METHODSGenome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene.

RESULTSNo abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein.

CONCLUSIONThe genotype of the family is identified as Cys 634 Trp substitution of RET gene.

Adult ; Exons ; genetics ; Female ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a ; genetics ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-ret ; genetics

OBJECTIVETo evaluate the sensitivity and usefulness of 99mTc-sestamibi scintigraphy (SS) and neck ultrasonography (US) as preoperative localization procedures in patients with primary hyperparathyroidism (pHPT).

METHODS160 patients with proved pHPT in Peking Union Medical College Hospital from June 1983 to June 2002 were studied. There were 107 women(66.9%) and 53 men (33.1%), with a mean age of 38.9 years (10-73 years). 100 patients were underwent SS and 148 patients were underwent US prior to surgery, and the results were compared with operative and histological findings.

RESULTSThe sensitivity of SS and US in localization of the enlarged parathyroid glands was 94.0% and 85.1% respectively, and the positive predictive value of SS and US was 100% and 89.1% respectively, the overall sensitivity was 98.9% by combination of SS and US. In solitary parathyroid adenomas group (n = 145), the sensitivity of SS and US was 93.3% and 84.7% respectively; There was no significant difference (P = 0.428) in sensitivity of SS between the parathyroid glands correctly identified and undetected in classical neck location as compared with ectopic parathyroid glands, whereas significantly (P = 0.026) influenced by the US sensitivity.

CONCLUSIONSDifferent sensitivity exit between SS and VS in preoperative localization in patients with pHPT undergoing parathyroidectomy. The combined use of SS and US could increase the sensitivity of localization technique. Ectopic parathyroid had no influence on the sensitivity of 99mTc-MIBI scanning, but decreased the sensitivity of ultrasonography. The size of parathyroid tumors had effects on the sensitivity of ultrasonography. Otherwise, various conditions causing SS false negative were observed. Some interfere factors should be excluded when SS negative results were encountered in clinical practice.

Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Hyperparathyroidism ; diagnostic imaging ; pathology ; Male ; Middle Aged ; Neck ; diagnostic imaging ; Parathyroid Glands ; diagnostic imaging ; pathology ; Preoperative Care ; Radionuclide Imaging ; Sensitivity and Specificity ; Technetium Tc 99m Sestamibi ; therapeutic use ; Ultrasonography