The bone turnover markers are composed of the metabolic products of bone matrix and bone cells.The changes of these markers in serum and/or urine represent the status of bone metabolism.To measure the level of these markers will offer important information for evaluating the diagnosis and the responses of therapy in metabolic bone diseases,and to predicat the risk of bone fracture.The biochemistry,measurement and clinical aplication will be introduced in this paper.

Objective To evaluate the value of different methods of hormone measurement and image study before surgery.Methods We retro spectively reviewed 99 patients with insulinoma confirmed by pathological report after surgery in the PUMC Hospital from December 1989 to August 2005.Results The main clinical manifestations were hypoglycemia coma,weight gain,perspiration,disorientation,hypomnesis,and dizziness.The sensitivity of diagnosis of insulinoma with fasting blood-glucose less than 2.78 mmol/L was 66.6%.The ratio of serum insulin to blood-glucose greater than 0.3 when hypoglycemia attacks was 90% sensitive.The sensitivity of perfusion CT was highest which was 100%.Conclusion Typical “Whipple's triad” and the ratio of serum insulin to blood-glucose greater than 0.3 when hypoglycemia attacks are best for the qualitative diagnosis of insulinoma.Perfusion CT has the best sensitivity and specificity among image studies currently used.

Objective To describe the clinical presentations,radiographic findings and histological pathology of bones,diagnosis,treatment options and prognosis for patients with Gorham-Stout syndrome (GSS).Methods Clinical data of 5 GSS patients seen from January 1980 to January 2008 were reviewed.Results(1)There were 2 males and 3 females,aged 15 years to 37 years(mean age was 30.2 years).(2)All of thern had osteolysis,but the site and extent of involved bones were not the same.Three cases had large amount of bloody pieural effusion and two of them had also chylous effusion.All of the 5 cases had no evidence of malignancies.Four cases accepted bone biopsy.Among them,2 cases having local puncture and open biopsy showed typical bone pathologic manifestations.(3)Various forms of treatment including bisphosphonates,calcium supplementation,active vitD3 treatment,local radiation therapy and surgical ligation of thoracic duct were tried.(4)Follow up and clinical outcomes:the two cases,who had only bone osteolysis remained stable.Of the other three cases who had bone osteolysis associated with pleural effusion,one patient needed interrupted effusion drainage with stable bone impairment and the other two cases were out of contact.Conclusions GSS is a rare disorder charactcrized by progressive osteoIysis.The clinical presentations of this disease are variable and depend on the sites of involvement.There were no standard therapy available.Prognosis depends on the site of involvement,extent of the disease and presence of complications.Those who have plueral effusion had poor prognosis.

Objective To investigate the clinical features and treatment protocol and prognosis for the hypophosphataemic osteomalacia related to adefovir dipivoxil.Methods Analysis was made upon a case of patient with chronic hepatitis B developed hypophosphataemic osteomalacia after administration of adefovir dipivoxil.Literature review was carried out to survey the global prevalence of hypophosphataemic osteomalacia after administration of adefovir dipivoxil among patients with chronic hepatitis B.Results The clinical symptoms started paralleling to the time taking adefovir dipivoxil,and alleviated after the patient withdrawn adefovir dipivoxil 10 weeks and was given phosphorus.Meanwhile,serum inorganic phosphorus recovered to normal ( 0.98 mmol/L),which lowest level was 0.77 mmol/L.Systematic review of the literature showed that hyperphosphaturia related to adefovir dipivoxil was dose-dependent,time-dependent and reversible.All reported cases of hypophosphataemic osteomalacia secondary to adefovir dipivoxil ( 10mg/d) were from Asian population.ConclusionsAdefovir dipivoxil induced hypophosphataemic osteomalacia is rarely seen in clinical practice.Those patients with chronic hepatitis B who take adefovir dipivoxil,no matter dosages,should take periodical examinations including blood calcium and serium inorganic phosphorus to monitor whether hypophosphataemic osteomalacia occurs.Other anti-virus drugs could be used when it happens.

Objective To detect the serum levels of 25‐hydroxy vitamin D[25‐(OH)D] ,homocysteine(HCY) andβ2‐microglob‐ulin(β2‐MG) in the patients with type 2 diabetes mellitus (T2DM ) and to investigate the relationship between serum HCY and β2‐MG with 25‐(OH)D and its clinical significance .Methods A total of 139 cases of T2DM were selected anddivided into 3 groups , the normal albuminuria group for [urinary albumin to creatinine ratio (UACR)< 30 mg/gCr ,45 cases] ,microalbuminuria group (UACR ≥ 30 mg/gCr and < 300 mg/gCr ,48 cases) and massive proteinuria group (UACR ≥ 300 mg/gCr ,46 cases) according to the urinary albumin to creatinine ratio (UACR) .Other 45 individuals undergoing the physical examination were selected as the con‐trol group .The serum 25‐(OH)D level was measured by electrochemiluminescence .Serum HCY level was determined by the enzy‐matic method .Serum β2‐MG level was measured by the latex enhanced immune turbidity method .At the same time ,the biochemical indicators of FBG ,HbA1C ,serum calcium and phosphorus were measured .Results The serum 25‐(OH)D level was decreased with the increase of urinary albumin in the DM patients .And the serum 25‐(OH)D level in the microalbuminuria group and the massive proteinuria group was significantly decreased compared with the normal albuminuria group and the control group ,the difference was statistically significant(P<0 .01) .The serum HCY and β2‐MG levels in the microalbuminuria group and the massive proteinuria group were significantly increased compared with the healthy control group ,the difference was statistically significant (P<0 .05) . Conclusion The serum 25‐(OH)D level is decreased with the increase of urinary albumin in the diabetic patients .The serum HCY andβ2‐MG levels are increased with the increase of urinary albumin and serum 25‐(OH)D level is negatively correlated with the HCY andβ2‐MG levels .

BACKGROUND: Osteoporosis is a genetic disease associated with many enes. To date, the genes that regulate bone mass are incompletely defined.OBJECTIVE: To investigate the relationship between polymorphisms of steoprotegerin (OPG) gene promoter with bone mineral density (BMD) in remenopausal and postmenopausal women.DESIGN: Prospective study.SETTING: Peking Union Medical College Hospital.PARTICIPANTS: In July 2002, 495 Han nationality women selected from Peking Union Medical College Hospital were non-related volunteers and gave their informed consent prior to the study, which included 306 premenopausal women aged 20-39 years, 189 postmenopausal women aged 50-84 years.METHODS: ① BMD measurement: BMD was measured at the Lumbar Spine and Femoral Neck, trochanter, Ward's triangle by dual-energy X-ray absorptiometry. ② Genotyping: Whole blood genome DNA was extracted by QIAGEN DNA extraction kit. The PCR product and the result of endonuclease digest were confirmed by sequencing (Bioasia Biotechnology,Shanghai, China). The impact of the polymorphisms on BMD was also investigated using multiple Logistic regression.MAIN OUTCOME MEASURES: ① Distribution of OPG genotypes and the relationship with BMD. ② Association between OPG polymorphisms and osteoporosis.RESULTS: All 495 subjects were involved in the final analysis. ① These polymorphisms were in Hardy-Weinberg equilibrium (χ2= 0.056 -0.222, P＞ 0.05). The frequencies of genotypes of these subjects were as follows: AA (70.1%), AG (26.9 %), GG (3.0 %) for 163A→G polymorphism; TT (71.3 %), TG (25.9 %), GG (2.8 %) for 245T→G polymorphism. BMD was lower in premenopausal women with GG +AG genotype than AA genotype for 163A→G polymorphism, so did GG+TG genotype than TT genotype for 245T→G polymorphism. But there was no significant difference. BMD was lower in postmenopausal women with AG+GG genotype than AA genotype for 163A→G polymorphism at Lumbar Spine 2-4, Femoral Neck, Ward's triangle and Trochanter (P ＜ 0.05). For 245T→G polymorphism, BMD of postmenopausal women with TG+GG genotype was lower at Femoral Neck,Ward's triangle and Trochanter than TT genotype (P ＜ 0.05). For 245T→G polymorphism, BMD of postmenopausal women with TG+GG genotype was lower at Femoral Neck, Ward's triangle, and Trochanter than TT genotype (P ＜ 0.05). ② Age, weight, height, years since menopause, and 163A→G/245T→G genotypes were sewed as covariates. AG+GG genotype was contributed to low BMD at Lumbar Spine 2-4 and Ward's triangle (OR =2.045, OR=2.956, P ＜ 0.05, 95% CI 1.05-6.7). TG+GG genotype was risk factor for osteoporosis at Lumbar Spine 2-4, Ward's triangle,and Trochanter (OR=2.059, OR=2.859, OR=2.123, P ＜ 0.05, 95% CI 1.04-6.5).CONCLUSION: BMD was lower in postmenopausal women with the variant G allele for 163A→G and 245T→G polymorphisms at Femoral Neck,Ward's triangle, and Trochanter. The variant allele G may associate with lower BMD in postmenopausal women.

Ectopic ACTH syndrome caused by adrenal pheochromocytoma is very rare.A case was herewith reported and the domestic and foreign literatures were reviewed.The correct diagnosis of the syndrome depends on clinical,biochemical,hormonal,radiographic,pathological investigations,as well as tumor immunohistochemistry for final comprehensive judgments.

Objective:To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1 gene (CEAS). Methods:Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study. The clinical manifestations, laboratory test, radiological and endoscopic findings, gene detections, treatments and prognosis of these patients were reviewed and analyzed.Results:Five male patients presented gastrointestinal symptoms after puberty, including abdominal pain, diarrhea, intermittent melena or hematochezia, incomplete bowel obstruction, anemia, hypoalbuminemia and hypokalemia. The whole gastrointestinal tract except esophagus could be involved, especially the stomach and ileum. Intestinal lesions were characterized by multiple shallow ulcers with stenosis in the layers of mucosa and submucosa. Five patients were all accompanied with primary hypertrophic osteoarthropathy (PHO), and 1 with myelofibrosis and thoracic duct dysplasia. All patients were homozygous or compound heterozygous mutations of SLCO2A1 gene. Conventional treatment of inflammatory bowel disease and COX-2 inhibitors were ineffective. Conclusions:CEAS is an autosomal recessive genetic disease which widely involves the gastrointestinal tract, and can be associated with skin and bone involvement. There is no effective treatment for CEAS at present. CEAS is a different entity from other inflammatory gastrointestinal diseases.

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 .

No abstract available.
Asia* ; Asian Continental Ancestry Group* ; Humans ; Osteoporosis*