Spastic ataxia type 8 with a homozygous mutation of the NKX6-2 gene: a case report and literature review / 中华实用儿科临床杂志

NKX6-2 encodes a transcription factor involving the genesis and development of oligodendrocytes.Mutations in the NKX6-2 gene are related to a severe variant of hypomyelinating leukodystrophy, namely the NKX6-2-related spastic ataxia type 8 (SPAX8). As of March 24, 2020, there are 36 cases of SPAX8 involving 11 mutations of the NKX6-2 gene, which has not been reported in Chinese population.This article for the first time reported a 31-month-old Chinese boy diagnosed as SPAX8 caused by a novel mutation of the NKX6-2 gene at c. 234dup(p.Leu79Alafs*? ) admitted to the Department of Rehabilitation, Guangdong Women and Children Hospital in October 2019 retrospectively.He presented severe global psychomotor delay, spasticity, nystagmus, hearing impairment and trichiasis, ametropia of both eyes, and retinal degeneration of the right eye, which have not been reported in previous cases.His elder sister presented relevant manifestations, but did not perform the genetic testing.Through this case report and literature review, the genotype and phenotype of SPAX8 were expanded.

The clinical value of oblique lateral interbody fusion in lumbar degenerative diseases: a meta-analysis / 中华骨科杂志

Objective@#To evaluate the safety and efficacy of oblique lateral interbody fusion (OLIF) in the surgical treatment of lumbar degenerative diseases.@*Methods@#All literatures of OLIF performed in lumbar degenerative diseases were searched in recognized databases including Pubmed, OVID, Embase, Cochrane Library, Science Direct, springer, CNKI, Wanfang and VIP databases. Methodological Indexfor Non-randomized Studies (MINORS) was used to evaluate the quality of the literatures. The meta-analysis was performed using Review Manager 5.3 and Stata 15.0 statistical software.@*Results@#A total of 35 literatures were included, including 22 English literatures and 13 Chinese literatures. There were 3 630 patients with 45.2% of males, aged from 14 to 89 years old (mean, 62.6 years). The average of length of stay (LOS), operation time (OT) and blood loss (BL) of OLIF procedure were 6.7 days, 117 minutes, and 128 ml, respectively. The VAS scores of low back pain of postoperative and final follow-up decreased by 4.33 and 4.70, respectively. The VAS scores of leg pain decreased by 4.57 points and 5.31, respectively. Compared with preoperative, the postoperative JOA score increased by 7.58 and the postoperative ODI were also improved by 33.89%. All the postoperative imaging data were significantly different from those before surgery. The surgical level intervertebral heightincreased 4.14 mm, and the intervertebral foramen height and intervertebral foramen area increased by 3.54 mm, 53.96 mm2, while the dura sac cross-sectional area increased by 36.61 mm2, and the overall lumbar lordosis increased by 13.78° with the local segmental lordosis increased by 4.62°. The overall incidence of complications of OLIF was 32%, with a 95% confidence interval of 25%-38%.@*Conclusion@#OLIF is a minimally invasive procedure for the treatment of lumbar degenerative diseases. OLIF has a simply procedure and short learning curve, with short LOS and operation time, less blood loss. OLIF can effectively open the narrow intervertebral space and increase the spinal canal and nerve root canal, significantly improve the symptoms, while the complication rate is low, so OLIF is worthy of widespread clinical application.

Comparison of proximal femoral nail antirotation versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture / 中华创伤骨科杂志

Objective@#To compare the clinical efficacy between proximal femoral nail antirotation (PFNA) versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture.@*Methods@#A retrospective study was conducted of the 164 senile patients with unstable femoral intertrochanteric fracture who had been treated at Department of Orthopedics, Shougang Hospital Affiliated to Peking University from January 2013 to March 2018. InterTAN nailing was performed in 93 of them, including 30 men and 63 women with an age of 84.5±2.4 years; by the AO classification, there were 53 cases of type 31-A2.2, 28 cases of type 31-A2.3 and 12 cases of type 31-A3. PENA fixation was performed in the other 71 patients, including 19 men and 52 women with an age of 83.8±2.3 years; by the AO classification, there were 41 cases of type 31-A2.2, 22 cases of type 31-A2.3 and 8 cases of type 31-A3. The 2 groups were compared in terms of weight-bearing time, thigh pain, hip function, imaging complications and postoperative quality of life.@*Results@#The 2 groups were comparable because there were no significant differences between them in preoperative general data (P>0.05). In the InterTAN nail group, the incidence of imaging complications [5.4%(5/93)] was significantly lower than in the PFNA group [18.3%(13/71)], the weight-bearing time (60.0±13.6 d) significantly shorter than in the PFNA group (65.8±11.0 d), and the incidence of thigh pain [3.2%(3/93)] significantly lower than in the PFNA group [12.7%(9/71)] (all P< 0.05). Of this series, 153 patients obtained an average follow-up of 39 months (from 12 to 75 months). At the last follow-ups, the Harris scores in the InterTAN nail group (78.3±12.2) were significantly higher than in the PENA group (73.6±11.3) (P<0.05). The InterTAN nail group scored significantly higher in physical functioning (68.6±15.4), general health perceptions (78.2±10.3), vitality (74.0±12.6) and mental health (80.6±9.9) in the 36-item short form health survey (SF-36) than the PFNA groups did (64.1±9.9, 74.9±9.0, 69.9±10.9 and 77.4±8.8) (all P<0.05).@*Conclusions@#Both internal fixation procedures are able to heal the fracture and restore the hip function in the senile patients with unstable femoral intertrochanteric fracture. However, InterTAN nail may have the advantages of earlier weight-bearing, lower incidence of varus deformity and better recovery of postoperative quality of life.

Comparison of proximal femoral nail antirotation versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture / 中华创伤骨科杂志

Objective To compare the clinical efficacy between proximal femoral nail antirotation (PFNA) versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture.Methods A retrospective study was conducted of the 164 senile patients with unstable femoral intertrochanteric fracture who had been treated at Department of Orthopedics,Shougang Hospital Affiliated to Peking University from January 2013 to March 2018.InterTAN nailing was performed in 93 of them,including 30 men and 63 women with an age of 84.5 ± 2.4 years;by the AO classification,there were 53 cases of type 3 1-A2.2,28 cases of type 3 1-A2.3 and 12 cases of type 3 1-A3.PENA fixation was performed in the other 71 patients,including 19 men and 52 women with an age of 83.8 ±2.3 years;by the AO classification,there were 41 cases of type 31-A2.2,22 cases of type 31-A2.3 and 8 cases of type 31-A3.The 2 groups were compared in terms of weight-bearing time,thigh pain,hip function,imaging complications and postoperative quality of life.Results The 2 groups were comparable because there were no significant differences between them in preoperative general data (P ＞ 0.05).In the InterTAN nail group,the incidence of imaging complications [5.4％ (5/93)] was significantly lower than in the PFNA group [18.3％ (13/71)],the weight-bearing time (60.0 ± 13.6 d) significantly shorter than in the PFNA group (65.8 ±.11.0 d),and the incidence of thigh pain [3.2％ (3/93)] significantly lower than in the PFNA group [12.7％ (9/71)] (all P ＜0.05).Of this series,153 patients obtained an average follow-up of 39 months (from 12 to 75 months).At the last follow-ups,the Harris scores in the InterTAN nail group (78.3 ± 12.2) were significantly higher than in the PENA group (73.6 ± 1 1.3) (P ＜ O.05).The InterTAN nail group scored significantly higher in physical functioning (68.6 ± 15.4),general health perceptions (78.2 ± 10.3),vitality (74.0 ± 12.6) and mental health (80.6 ±9.9) in the 36-item short form health survey (SF-36) than the PFNA groups did (64.1±9.9,74.9±9.0,69.9±10.9 and77.4±8.8) (all P ＜0.05).Conclusions Both internal fixation procedures are able to heal the fracture and restore the hip function in the senile patients with unstable femoral intertrochanteric fracture.However,InterTAN nail may have the advantages of earlier weight-bearing,lower incidence of varus deformity and better recovery of postoperative quality of life.

Effect of rabbit nucleus pulposus tissue after anterior column disc removal on interbody fusion / 中国组织工程研究

BACKGROUND:In treatment of lumbar diseases, lumbar fusion therapy fails in 20%of cases and may lead to a series of complications such as pain, intervertebral space col apse, and delayed kyphosis deformity. OBJECTIVE:To observe the effect of nucleus pulposus on interbody fusion after removing the anterior column disc of rabbit lumbar vertebra. METHODS:A total of 36 healthy Japanese white rabbits were randomly and equal y divided into three groups, with 12 rabbits in each group. (1) Group of anterior longitudinal ligament+bone grafting:The L3 intercalated disc were wel exposed and anterior longitudinal ligament was stripped, obtaining a space to L3 intercalated disc, then the iliac bone was implanted. (2) Group of excising anterior 1/3 disc+bone grafting:After the anterior 1/3 disc tissue was excised, the iliac bone was implanted and sutured as Group of anterior longitudinal ligament+bone grafting. (3) Group of excising anterior 1/3 disc+fixation:After the anterior 1/3 disc tissue was excised, the iliac bone was implanted and the anterior column fixation was performed. RESULTS AND CONCLUSION:Biomechanical testing showed that, at 12 weeks, the verticality tensile force in the group of anterior longitudinal ligament+bone grafting was obviously higher than other two groups, and have better fusion rate and could bear stronger force. Lateral position lumbar radiography showed that, the bone graft was absorbed and no new bone grew into the intervertebral space in the group of excising anterior 1/3 disc+bone grafting at 12 weeks;the formation of osseous bridge was found in the group of excising anterior 1/3 disc+fixation;complete bony fusion was found in the group of anterior longitudinal ligament+bone grafting. Histological examinations showed that, at 12 weeks, no bone tissue formed in the group of excising anterior 1/3 disc+bone grafting;a smal amount of bone trabecula and osteocytes were observed in the group of excising anterior 1/3 disc+fixation;a great quantity of newborn bone trabecula and osteocytes, remodeling lamel ar bone and canalis haversi structure were observed in the group of anterior longitudinal ligament+bone grafting. The stability of anterior column has notable effect on interbody fusion, after the anterior column disc is destroyed, the free nucleus pulposus may affect spinal fusion, so restoring the stability of the anterior column may promote interbody fusion, but stil cannot get solid spinal fusion.

Programmed cell death 5 correlates with disease activity and interleukin-17 in serum and synovial fluid of rheumatoid arthritis patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Programmed cell death 5 (PDCD5) is a novel apoptotic regulatory gene that promotes apoptosis in various tumor cells. Studies have shown that PDCD5 accelerates the apoptosis of synoviocytes in vitro, implying a potential role in rheumatoid arthritis (RA) pathogenesis. This study examined the expression of PDCD5 in serum and synovial fluid of RA patients, its effect on the expression of inflammatory cytokine, interleukin-17 (IL-17), and the assessment of disease activity in RA.</p><p><b>METHODS</b>PDCD5 and IL-17 levels in serum and synovial fluid from 18 patients with RA and 22 patients with osteoarthritis (OA) were detected using enzyme-linked immunosorbent assay (ELISA). Concentrations of serum PDCD5 in 40 healthy people were also detected as controls. As disease activity indices, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), rheumatoid factor (RF), and X-ray grading scale were also evaluated.</p><p><b>RESULTS</b>Serum and synovial fluid PDCD5 levels in RA patients were significantly higher than those in OA and healthy controls. Serum PDCD5 level was inversely correlated to CRP and ESR, and was significantly higher in the RF negative group than in the positive group. PDCD5 level was also negatively correlated with IL-17 levels both in serum and synovial fluid of RA patients. However, differences in synovial fluid PDCD5 level from RA patients at different Larsen stages were not detectable.</p><p><b>CONCLUSIONS</b>PDCD5 affects RA pathogenesis. Insufficient apoptosis of fibroblast-like synoviocytes and inflammatory cells in RA could increase the expression of PDCD5 protein. As PDCD5 levels correlated negatively with disease activity indices and IL-17 level, PDCD5 could become a target in the diagnosis and treatment of RA.</p>

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 gene. Here, we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD. The mutations were identified using exome sequencing and confirmed by Sanger sequencing.</p><p><b>RESULTS</b>The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes, multiple calcinosis of both kidneys, and multiple dilated bile ducts of the liver. Compound heterozygous PKHD1 gene mutations A979G and G5935A, which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively, were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient. In addition, the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene.</p><p><b>CONCLUSIONS</b>We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD. Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large.</p>

The expression and correlation of programmed cell death 5 and tumor necrosis factor-alpha in rheumatoid arthritis patients / 中华风湿病学杂志

ObjectiveTo detect the expression level of programmed cell death (PDCD) 5 and tumor necrosis factor(TNF)-α in serum and joint fluid from rheumatoid arthritis (RA) and osteoarthritis (OA)patients,and analyze the correlation between PDCD5 and TNF-α in order to study the role of PDCD5 in the pathogenesis of RA.MethodsFiftypatients(including 26 RA,24 OA) between December 2009 and August 2010 were selected to this study.ELISA was used to detect the concentration of PDCD5 and TNF-α in the serum and joint fluid.Two-independent sample t-test and Pearson's correlation analysis were used for statistics.ResultsIn both serum and joint fluid,the concentration of PDCD5 from RA patients [(37±33) vs (37±26) pg/ml ] was significantly higher than that of OA patients [ ( 13± 14) vs ( 11 ±7 ) pg/ml ] (P＜0.05).The concentration of TNF-α in the serum from RA and OA patients did not differ significantly(P=0.122),but its concentration in joint fluid of RA patients was significantly higher than that of OA patients (P=0.037).In the serum,there was significant correlation between PDCD5 and TNF-α (r=-0.55,P=0.004; r=-0.51,P=0.012)in both RA and OA patients.The correlation between PDCD5 and TNF-α in joint fluid of RA patients was statistically significant(r=-0.49,P=0.012),but no correlation could be found in joint fluid between PDCD5and TNF-α of OA patients(r=-0.353,P=0.09).ConclusionThis study suggests that PDCD5 and TNF-αare important apoptosis-regulatory factors in RA,and play important roles in the occurrence and development of RA.

Clinical and pathological features of Riedel's thyroiditis / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To evaluate the clinical and pathological features of Riedel's thyroiditis (RT), and current diagnostic and treatment methods for that disease.</p><p><b>METHODS</b>Five RT cases identified by surgery and pathological examinations at Peking Union Medical College Hospital from 1985 to 2009 were analyzed and compared with the cases reported in the literature in terms of clinical and pathological features. Immunohistochemical staining of kappa and lambda light chains was carried out for RT tissues from all the five patients.</p><p><b>RESULTS</b>All the five cases were females, aged 45-55 years. Elevation of serum thyroid autoantibodies was found in only one patient, who had longer disease duration than the others. Pathological examination revealed invasive fibrosclerosis of the thyroid follicles, thyroid capsule, and the surrounding tissues. In RT tissues, the number of cells containing lambda chains was a little higher than those containing kappa chains.</p><p><b>CONCLUSIONS</b>RT is a rare disease which might be more common in middle-aged females than in other populations. Pathological features include the destruction of thyroid follicle, extension into surrounding tissues by inflammatory cells and fibrous tissues. Immunohistochemical staining of kappa and lambda chains could help diagnose RT.</p>

Total hip replacement after failed internal fixation in the elderly patients with displaced femoral neck fractures / 中华创伤杂志

Objective To investigate the clinical results of the primary total hip replacement (THR) and the secondary THR after failed internal fixation in the elderly patients with displaced femoral neck fracture so as to find the optimal treatment for displaced femoral neck fractures in the elderly patients. Methods From April 2001 to April 2007,16 patients (Study Group) treated with a secondary THR after failed internal fixation and 20 patients (Control Group) treated with a primary THR were enrolled in the study and followed up. There were seven males and nine females, at average age of 66. 5 years (50-85 years) and with mean follow-up period of 58. 25 months (24-96 months) in the Study Group. There were six males and 14 females, at average age of 68.1 years (51-83 years) and with mean follow-up period of 49.50 months (24-70 months) in the Control Group. All patients were active and lucid before they suffered fractures. Blood loss and operation duration in THR were compared. Hip function (Harris score) and health-related quality of life (HRQoL, KPS index score) were assessed during the follow-up after THR. Results Operative duration was (115.63 ±34.35) minutes in Study Group and (91.25 ±15.80) minutes in Control Group (P<0.05). Blood loss was (546.86 ±377.04) ml in Study Group and (320.00 ±155.94) ml in Control Group (P<0.05). At follow up, Harris score and KPS index score were (87. 25 ±7. 53) points and (95. 00 ±5. 16) points respectively in Study Group, and (90.20±5.46) points and (96.00 ±0.73) points respectively in Control Group (P>0.05). There were no infections or re-operations in two groups, but with one death in each group during the follow-up. Conclusions THR is the optimal treatment for displaced femoral neck fractures in the elderly patients.The secondary THR after failed internal fixation has higher risks in operation compared with the primary THR for a displaced femoral neck fracture in the elderly patient.

Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate the clinical and genetic features of a Chinese family with von Hippel-Lindau (VHL) disease revealed by bilateral pheochromocytoma.</p><p><b>METHODS</b>The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members (including 3 patients) was amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.</p><p><b>RESULTS</b>The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A (Arg161Gln) in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members.</p><p><b>CONCLUSION</b>VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.</p>

Retroperitoneal laparoscopic resection for pheochromocytoma (experience of 107 cases) / 中华外科杂志

<p><b>OBJECTIVE</b>To evaluate the safety and efficacy of retroperitoneal laparoscopic resection for pheochromocytoma.</p><p><b>METHODS</b>The clinical data of 107 cases of pheochromocytoma in PUMCH from 2003 to 2008 were analyzed retrospectively. There were 58 males and 49 females with an age range from 8 to 77 years (mean 44 years) in this cohort. One hundred and two cases were intra-adrenal and 5 extra-adrenal. Of the 102 intra-adrenal tumors, 43 tumors were located in left adrenal, 51 in right adrenal and 8 in both sides. All of the 5 extra-adrenal tumors were at para-abdominal aorta. Retroperitoneal laparoscopic resection was performed for the 107 cases. This period was separated to 3 stages based on the degrees of the practical ability for retroperitoneal laparoscopic resection, such as tentative and exploratory stage, accumulative stage, and mature stage.</p><p><b>RESULTS</b>At tentative and exploratory stage from June 2003 to December 2003, 10 cases underwent retroperitoneal laparoscopic surgery, of which 3 cases were converted to open surgery. The mean diameter was 4.2 cm (range in diameter from 2.5 cm to 6.0 cm). The mean operation time was 105 min (range from 60 min to 230 min). The mean volume of blood loss during operation was 620 ml (range from 150 ml to 1800 ml). At accumulative stage from January 2004 to December 2006, 66 cases underwent retroperitoneal laparoscopic surgery with none converted to open surgery. The mean diameter was 5.7 cm (range in diameter from 2.1 cm to 8.7 cm), and the diameter was above 6.0 cm in 19 cases. The mean operation time was 95 min (range from 40 min to 210 min). The mean volume of blood loss during operation was 350 ml (range from 50 ml to 1800 ml). At mature stage from January 2007 to June 2008, 31 cases, including 5 extra-adrenal pheochromocytomas, underwent retroperitoneal laparoscopic surgery. The mean diameter was 6.5 (range in diameter from 1.5 cm to 12.3 cm). The mean operation time was 75 min (range from 40 min to 160 min). The mean volume of blood loss during operation was 180 ml (range from 50 ml to 800 ml). No peri-operative death occurred. Follow up period was ranging from 1 to 62 months (the mean was 34 months), and 7 failed to be followed up, 3 cases recurred. And there was no distant metastases and death case.</p><p><b>CONCLUSIONS</b>Retroperitoneal laparoscopic surgery for pheochromocytoma is feasible and safe. This procedure will be more and more performed as the advancement of the skill and accumulation of experience. The dimension, recurrence and location of tumor are not the absolute contraindication of retroperitoneal laparoscopic surgery for pheochromocytoma.</p>

Effect of hypokalemia on glucose metabolism in primary hyperaldosteronism / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the effect of potassium deficiency on glucose and insulin metabolism in primary hyperaldosteronism, including aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA).</p><p><b>METHODS</b>Totally 178 patients who were diagnosed as primary hyperaldosteronism (103 patients with APA and 75 with IHA) were divided into hypokalemia group and normal potassium group according to their serum potassium levels. All patients received 3 hours of oral glucose tolerance test and aldosterone test to observe the relationship among glucose, insulin and serum potassium.</p><p><b>RESULTS</b>Area under curve of serum potassium, area under curve of plasma insulin, and fasting serum insulin were significantly lower in the hypokalemia group than in the normal potassium group (P <0. 05, P <0. 01); area under curve of glucose and aldosterone level were significantly higher in the hypokalemia group than in the normal potassium group ( P < 0. 05 ) . The prevalence of metabolic syndrome was significantly higher in IHA than in APA (57. 3% vs 38. 8% ; P < 0. 05).</p><p><b>CONCLUSION</b>Hypokalemia may play an important role in inhibiting insulin secretion in primary hyperaldosteronism.</p>

Expression of renin-angiotensin-aldosterone system in human adipose tissues / 中国医学科学院学报

<p><b>OBJECTIVE</b>To compare the mRNA expression of renin-angiotensin-aldosterone system in human subcutaneous and visceral adipose tissues.</p><p><b>METHODS</b>Total RNA was extracted from 12 human subcutaneous adipose tissues, 12 perirenal adipose tissue and 9 periadrenal adipose tissues. The expressions of angiotensinogen ( AGT) , renin, angiotensin converting enzyme ( ACE) , angiotensin converting enzyme 2 (ACE2), angiotensin I1 receptor type 1 (AT1), angiotensin II receptor type 2 (AT2 ), CYP11 B2, and their internal reference glyceraldehyde phosphate (GAPDH) were studied by reverse transcription-polymerase chain reaction. The ratios of each target genes were used to evaluate the expression levels of AGT, renin, ACE, ACE2, AT1, AT2, and CYP11B2 in different adipose tissues.</p><p><b>RESULTS</b>The mRNA expressions of AGT, ACE, ACE2, AT1, and AT2 were detected in human subcutaneous, perirenal, and periadrenal adipose tissues. However, CYPI B2 mRNA expression was not found in these three adipose tissues. The mRNA expressions of renin was only detected in perirenal and periadrenal adipose tissues, which was significantly higher in perirenal adipose tissues than in periadrenal adipose tissues ( P < 0. 05 ). The mRNA expressions of ACE and ACE2 in perirenal adipose tissues were significantly higher than that in subcutaneous adipose tissues ( P < 0. 05). The mRNA expressions of ACE were significantly higher than that of ACE2 in subcutaneous, perirenal, and periadrenal adipose tissues (P <0. 05). The mRNA expressions of AT1 were significantly lower than that of AT2 in periadrenal adipose tissues (P < 0. 05).</p><p><b>CONCLUSION</b>Local renin-angiotensin system exists in the adipose tissues; however, aldosterone is not synthesized in the adipose tissues.</p>

RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred / 中国医学科学院学报

<p><b>OBJECTIVE</b>To identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.</p><p><b>METHODS</b>Genome 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.</p><p><b>RESULTS</b>No 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.</p><p><b>CONCLUSION</b>The genotype of the family is identified as Cys 634 Trp substitution of RET gene.</p>

Clinical diagnosis and treatment of nonfunctioning pheochromocytomas in 14 patients / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of nonfunctioning pheochromocytoma, and to evaluate the efficacy of 131I-metaiodobenzylguanidine (MIBG) scan in the diagnosis and perioperative treatment of nonfunctioning pheochromocytoma.</p><p><b>METHODS</b>The clinical data of 14 patients with nonfunctioning pheochromocytoma were analyzed retrospectively. Plasma free corticoid, renin, aldosterone, and urine catecholamines levels were estimated. B-mode ultrasonography, computed tomography scan, thoracic X-ray and 131I-MIBG were used.</p><p><b>RESULTS</b>All patients with nonfunctioning pheochromocytoma had no hypertension and the tumors were found incidentally. The 24 hours urine catecholamines levels in 80% (8/10) patients were normal. The positive rate of 131-MIBG was 80% (8/10) and the specificity was 100%. All patients underwent surgical operation of tumor resection. No preoperative volume expansion was given to all patients. All tumors were resected completely, and no death accident happened. There was no recurrence and metastasis after operation by long-term follow-up.</p><p><b>CONCLUSION</b>131I-MIBG scan is the first choice technique for the diagnosis of nonfunctioning pheochromocytoma. Blood volume expansion is unnecessary before resection of pheochromocytoma.</p>

Vasoactive polypeptides and cardiovascular endocrine diseases / 中国医学科学院学报

Cardiovascular bioactive peptides constitute life activity of human beings. They play important roles in regulating the development of cardiovascular system, and controlling disease progression. Recently, interests have arised on the adjusting effects of cardiovascular bioactive peptides on endocrine metabolism, its changes during disease course, influence on disease pathogenesis, as well as its effects on the diagnosis, treatment, and early interventions. New advances have been increasingly achieved in basic and clinical researches. It has become one of the most active areas in life sciences.

Expression of adrenomedullin and its receptor mRNA in the tissues of normal adrenal medulla and pheochromocytoma / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the expression of human adrenomedullin (ADM) and its receptor-receptor activity modifying protein 2/calcitonin receptor-like receptor (RAMP2/CRLR) mRNA in the tissues of normal adrenal medulla and pheochromocytoma.</p><p><b>METHODS</b>Total RNA was extracted from normal adrenal medulla and pheochromocytomas. The expression of ADM and RAMP2/CRLR mRNA were studied by reverse transcription-polymerase chain reaction. The ratios of ADM/GAPDH, RAMP2/ GAPDH, CRLR/GAPDH were used to evaluate the expression levels of ADM, RAMP2 and CRLR mRNA.</p><p><b>RESULTS</b>Expressions of ADM and its receptor- RAMP2/CRLR mRNA were detected in normal adrenal medulla and pheochromocytoma tissues. ADM/GAPDH were 0.48+/-0.09 and 0.75+/-0.24, RAMP2/ GAPDH 0.79+/-0.12 and 1.29+/-0.30, CRLR/GAPDH 0.40+/-0.08 and 0.87+/-0.22 in normal adrenal medulla and pheochromocytomas, respectively (P < 0.05).</p><p><b>CONCLUSION</b>ADM exerts a possible autocrine or paracrine effect in the adrenal. ADM may be involved in the pathogenesis of pheochromocytoma.</p>

Expression of urotensin II and G-protein coupled receptor 14 mRNA in human pheochromocytoma tissues / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the expression of urotensin II (U II) and G-protein coupled receptor 14 (GPR14) mRNA in human pheochromocytoma tissues.</p><p><b>METHODS</b>Total RNA from normal adrenal and pheochromocytoma tissues was extracted. The reverse transcription-polymerase chain reaction method was used to evaluate the levels of U II and GPR14 mRNA expression in human pheochromocytoma tissues.</p><p><b>RESULTS</b>There was no significant difference of U II and GPR14 mRNA expression between normal adrenal cortex and medulla. The expression of U II and GPR14 mRNA in pheochromocytoma was significantly lower than that in normal adrenal cortex and medulla (P < 0.05). The expression of GPR14 mRNA in adrenal pheochromocytomas was significantly lower than that of extra-adrenal pheochromocytomas (P < 0.05).</p><p><b>CONCLUSION</b>U II and GPR14 may play a role in the pathogenesis and hypertension regulating of pheochromocytoma.</p>

A vasoactive peptide: urotensin II / 中国医学科学院学报

Urotensin II (U II ) is currently the most potent vasoconstrictor. G-protein coupled receptor 14 ( GPR-14) is its specific receptor. This review mainly discribes the structure and distribution of U II and GPR14, the activities that U II and GPR14 stimulates proliferation of vascular smooth muscle cells and vasoconstriction, as well as its mechanism.