Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 37
Filter
1.
Article in Chinese | WPRIM | ID: wpr-935336

ABSTRACT

To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.


Subject(s)
Chromosome Mapping , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Retrospective Studies , Translocation, Genetic
2.
Basic & Clinical Medicine ; (12): 928-932, 2018.
Article in Chinese | WPRIM | ID: wpr-694011

ABSTRACT

Objective To investigate the effects of metformin on insulin sensitivity and secretion in patients with obesity and insulin resistance. Methods This study enrolled 42 obesity patients with insulin resistance who were regularly followed-up in Peking Union Medical College Hospital from September 2012 to May 2016. They were divided into two groups according to their different status of glucose metabolism: normal glucose tolerance( NGT) and impaired glucose regulation( IGR) . Life style intervention and metformin were given to all these patients. The antropometric and metabolic data were collected before treatment, 3 and 6 months after treatment respectively. Results 42 patients, aged (23.6±6.5) years, including 11 males and 31 females were enrolled. 19 of them were NGT and 23 were IGR (8 of IGT and 15 of IFG) . Among all these patients, fasting insulin was significantly higher at 3 months after treatment(P<0.05).The same results were shown in group-NGT(P<0.05). Fasting insulin was significantly lower at 6 months after treatment than at baseline among all patients( P<0.05) . HOMA-IR showed no significant difference between the baseline and 3 months after treatment, but significantly higher at baseline and 3 months after treatment than 6 months after therapy( P<0.001) . HOMA-beta was significantly( P<0.001) lower be-fore treatment and 6 months treatment the effect was more significant than 3 months after treatment among all pa-tients. HOMA-beta was significantly lower at baseline in group-IGR than at baseline in group-NGT ( P<0.05) . Conclusions The effect of metformin on insulin secretion is earlier than that of improving the insulin sensitivity in patients with obesity and insulin resistance. Metformin is more likely to promote insulin secretion in patients with normal glucose tolerance than those with IGR within 3 months of intervention.

3.
Basic & Clinical Medicine ; (12): 742-744, 2018.
Article in Chinese | WPRIM | ID: wpr-693977

ABSTRACT

Microlectures have great advantages in improving the enthusiasm of medical students in self -learning be-cause of its short period and brief content,breaking through the limitations of time and space and realizing the share of educational resources.WeChat, QQ, Weibo and other communication software make daily use of micro-course possible in the education.This paper presents the content design and development model of electronic medical mi -cro-course platform,providing a theoretical basis and a model reference for the construction of electronic platform.

4.
Basic & Clinical Medicine ; (12): 422-425, 2018.
Article in Chinese | WPRIM | ID: wpr-693915

ABSTRACT

Virtual reality technology can simulate the real scene. It provides an ideal learning materials and the en-vironment as well as make up for the disadvantage of current medical education without the constraints of time and space constraints. It will not only improve clinical conditions and clinical treatment,but also promote the develop-ment of medicine. This article aims to introduce and evaluate the application and research of virtual reality in the medical field.

5.
Basic & Clinical Medicine ; (12): 265-268, 2018.
Article in Chinese | WPRIM | ID: wpr-693883

ABSTRACT

In order to improve the teaching quality of clinical epidemiology for medical students engaged in eight-year curriculum of Peking Union Medical College, and foster the practice of evidence-based medicine and clinical research in Peking Union Medical College Hospital (PUMCH), the Clinical Epidemiology Unit of PUMCH(PUMCH-CEU) utilized successful experience from institutions abroad and conducted a teaching reform. In addition to theory teaching, PUMCH-CEU incorporated literature case study and assignments into the course, so as to improve students' understanding about the design, measurement, and evaluation of clinical research. The execution of a well-designed reformation plan has led to a great success of this course, as well as fruitful achievements.

6.
Article in Chinese | WPRIM | ID: wpr-690287

ABSTRACT

Objective To analyze the effectiveness and safety of laparoscopic sleeve gastrectomy (LSG) in treating obesity and its co-morbidities.Methods The clinical data of obese patients undergoing LSG in Peking Union Medical College Hospital from August 2012 to August 2017 were retrospectively analyzed. Medium-term outcome measures included excess weight loss (%EWL),co-morbidity improvement,and complications.Results Seventy-five obese patients comprising 28 men[ body mass index(BMI):(47.3±7.5)kg/m ) ] and 47 women [BMI (41.1±7.0) kg/m ] were enrolled in this analysis. The common co-morbidities were liver dysfunction (53.3%),dyslipidemia (52.0%),obstructive sleep apnea (45.3%),type 2 diabetes mellitus (38.7%),and arterial hypertension (37.3%),which were improved by 75.0%,58.3%,83.3%,75.0% and 58.3% three years after surgery. The mean %EWL at 1,2,and 3 years after surgery was 81.6±34.7,80.9±30.2 and 79.7±30.8,respectively. The proportions of patients achieving successful weight loss were 81.7% (n=49),81.0% (n=34),and 79.3% (n=23) at 1,2,and 3 years (%EWL>50%). Early severe complications (Clavien-Dindo classification>2) occurred in 2.6% of patients,and the most common late complications was gastroesophageal reflux disease,which could be relieved by acid suppressants.Conclusion LSG is effective and safe in treating obesity and its co-morbidities.

7.
Article in Chinese | WPRIM | ID: wpr-690286

ABSTRACT

Objective To evaluate the prevalence and clinical characteristics of obstructive sleep apnea (OSA) in bariatric surgery population.Methods Consecutive patients undergoing preoperative evaluation for bariatric surgery and referred for sleep monitoring in Peking Union Medical College Hospital from January 2009 to December 2015 were retrospectively analyzed. Age,gender,symptoms of snoring,fatigue,apnea and somnolence,apnea hyponea index (AHI),arterial blood gas,pulmonary function,sleep respiratory monitoring,positive airway therapy of OSA,and postoperative complications were recorded. The clinical characteristics of OSA groups at different severity were compared using AHI≥5 events/hour and AHI≥15 events/hour as cut-off values. Correlation analysis was applied to identify the clinical factors associated with AHI.Results Of 42 patients with complete sleeping monitoring data before bariatric surgery,30(71.4%) were diagnosed as OSA,14 (33.3%) were moderate or severe and 11 (26.2%) were severe. Also,OSA was not detected before the bariatric surgery in 25 cases (83.3%). Compared with patients with AHI<5 events/hour,patients with AHI≥5 events/hour had significantly older age (t=2.869,P=0.007),higher proportion of observed apnea (P=0.035),higher AHI (z=-4.592,P=0.000),higher proportion of night pulse oxygen saturation(SpO) below 90% (z=-2.746,P=0.006),lower mean SpO (t=-2.071,P=0.046) and lower lowest SpO (t=-3.914,P=0.000). Compared with AHI<15 events/hour group,the AHI≥15 events/hour group had significantly higher BMI (t=2.281,P=0.043),male ratio (P=0.005),incidence of hypertension (P=0.011),proportion of observed apnea (P=0.001),percentage of smoking history (P=0.017),partial pressure of carbon dioxide(PaCO)(t=3.478,P=0.002),AHI (z=-4.592,P=0.000),and proportion of night SpO below 90% (z=-4.530,P=0.000); in addition,the forced expiratory volume in one second(FEV1)% predicted (t=-3.377,P=0.002),forced vital capacity(FVC)% predicted (t=-2.342,P=0.026),night time mean SpO (t=-3.392,P=0.007),lowest SpO (t=-5.535,P=0.000) were significantly decreased. Correlation analysis showed that,in populations with normal PaCO (n=36),AHI was positively correlated with age (r=0.450,P=0.006) and BMI (r=0.384,P=0.021) and negatively correlated with FEV1% predicted (r=-0.457,P=0.008) and FVC% predicted (r=-0.432,P=0.013). Partial correlation analysis showed that,after age and BMI were adjusted,AHI was not correlated with FEV1% predicted(r=-0.287,P=0.125)and FVC%predicted(r=-0.241,P=0.200).Conclusion The incidence and underdiagnosis rate of OSA are high in bariatric surgery population. OSA should be routinely screened in bariatric population to reduce the postoperative complication.

8.
Article in Chinese | WPRIM | ID: wpr-690273

ABSTRACT

Traumatic brain injury(TBI)is a major cause of hypothalamopituitary dysfunction. TBI-related hypothalamopituitary dysfunction is more common in the acute phase. Disturbance of pituitary/gonadal axis and growth hormone axis,as well as posterior pituitary dysfunction including central diabetes insipidus and syndrome of inappropriate antidiuretic hormone secretion,are the most frequently seen. During the chronic phase of TBI,anterior hypopituitarism is the major concern,which affects the quality of life. Risk factors for hypothalamopituitary dysfunction following TBI include low Glasgow score,high body mass index,hypoxia,older age,longer intensive care unit stay and longer coma status,radiological evidence of acute brain injury,and increased intracranial pressure. Children and adolescents are in a crucial period of growth and development,and therefore TBI-related pituitary dysfunction during this period can substantially affect the cognition and behaviors. There is currently no reliable biochemical marker predicting hypothalamopituitary dysfunctions. Therefore,it is of great importance to evaluate the pituitary function and take appropriate hormone replacement for moderate-severe TBI patients or mild TBI patients with apparent symptoms,especially for patients with water-electrolyte disturbance and adrenal deficiency. Growth hormone and gonadal hormone replacement therapies are crucial for children and adolescents.

9.
Article in English | WPRIM | ID: wpr-690661

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prevalence and possible factors influencing metabolic syndrome in people from Guizhou Province and to explore the predictive value of the fat-to-muscle ratio in diagnosing metabolic syndrome.</p><p><b>METHODS</b>A multistage stratified sampling method was used in this cross-sectional study of 20-80 years old Han and Bouyei populations from Guizhou Province, southwestern China, from October-December 2012. The study included 4,553 cases of metabolic syndrome, that was defined according to 2005 International Diabetes Federation criteria. The receiver operating characteristic curve was used for determining the sensitivity, specificity, and predictive ability of the fat-to-muscle ratio for the diagnosis of metabolic syndrome.</p><p><b>RESULTS</b>The age-standardized prevalence of metabolic syndrome was 11.38% (men: 9.76%; women: 12.72%) for Han and 4.78% (men: 4.43%; women: 5.30%) for Bouyei populations. In Guizhou Province, the cut-off value for the men fat-to-muscle ratio was 0.34, the area under the curve was 0.95, and the sensitivity and specificity were 0.94 and 0.85, respectively. The cut-off value for the women fat-to-muscle ratio was 0.55, the area under the curve was 0.91, and the sensitivity and specificity were 0.93 and 0.79, respectively.</p><p><b>CONCLUSION</b>The fat-to-muscle ratio is highly predictive of metabolic syndrome in Guizhou Province, and a useful reference indicator.</p>


Subject(s)
Adipose Tissue , Physiology , Adult , Aged , Aged, 80 and over , Asians , Body Composition , Genetics , Physiology , China , Epidemiology , Genetic Predisposition to Disease , Humans , Metabolic Syndrome , Epidemiology , Genetics , Middle Aged , Muscle, Skeletal , Physiology , Young Adult
10.
Article in English | WPRIM | ID: wpr-281467

ABSTRACT

<strong>Objective</strong> To evaluate physicians' attitude and knowledge about the management of adult growth hormone deficiency (AGHD) at Peking Union Medical College Hospital and impact factors associated with better decision-making.<strong>Methods</strong> A 21-question anonymous survey was distributed and collected at Peking Union Medical College Hospital, a major teaching hospital in Chinese Academy of Medical Sciences. Data of physicians' educational background, clinical training, patient workload per year and continuing medical education in AGHD were collected. Factors associated with appropriate answers were further analyzed by multivariate regression models.<strong>Results</strong> One hundred and eighteen internal medicine residents, endocrine fellows, attending physicians and visiting physicians responded to the survey. Among them, 44.9% thought that AGHD patients should accept recombinant human growth hormone replacement therapy. Moreover, 56.8% selected insulin tolerance test and growth hormone-releasing hormone-arginine test for the diagnosis of AGHD. Logistic regression analysis of physician demographic data, educational background, and work experience found no consistent independent factors associated with better decision-making, other than continued medical education, that were associated with treatment choice.<strong>Conclusions</strong> The physicians' reported management of AGHD in this major academic healthcare center in Beijing was inconsistent with current evidence. High quality continued medical education is required to improve Chinese physician management of AGHD.


Subject(s)
Adult , Aged , Education, Medical, Continuing , Female , Health Knowledge, Attitudes, Practice , Hormone Replacement Therapy , Human Growth Hormone , Humans , Logistic Models , Male , Middle Aged
11.
Article in English | WPRIM | ID: wpr-281401

ABSTRACT

Objective To evaluate physicians' attitude and knowledge about the management of adult growth hormone deficiency (AGHD) at Peking Union Medical College Hospital and impact factors associated with better decision-making.Methods A 21-question anonymous survey was distributed and collected at Peking Union Medical College Hospital, a major teaching hospital in Chinese Academy of Medical Sciences. Data of physicians' educational background, clinical training, patient workload per year and continuing medical education in AGHD were collected. Factors associated with appropriate answers were further analyzed by multivariate regression models.Results One hundred and eighteen internal medicine residents, endocrine fellows, attending physicians and visiting physicians responded to the survey. Among them, 44.9% thought that AGHD patients should accept recombinant human growth hormone replacement therapy. Moreover, 56.8% selected insulin tolerance test and growth hormone-releasing hormone-arginine test for the diagnosis of AGHD. Logistic regression analysis of physician demographic data, educational background, and work experience found no consistent independent factors associated with better decision-making, other than continued medical education, that were associated with treatment choice.Conclusions The physicians' reported management of AGHD in this major academic healthcare center in Beijing was inconsistent with current evidence. High quality continued medical education is required to improve Chinese physician management of AGHD.

12.
Article in English | WPRIM | ID: wpr-277911

ABSTRACT

Cushing's disease (CD) is a relatively rare disease,characterized by pathological hypercortisolism secondary to excessive adrenocorticotrophic hormone that is secreted by pituitary adrenocorticotrophic hormone adenoma or hyperplasia. In addition to the typical clinical symptoms such as moon face,buffalo hump,and central obesity,the CD patients may also experience mental disorders and cognitive dysfunction. This review mainly focuses on the cognitive state of CD patients,the mechanisms of cognitive impairment caused by high cortisol levels,and the imaging findings (especially magnetic resonance imaging) for the evaluation of cognitive functions.


Subject(s)
Adenoma , Cognition , Cognitive Dysfunction , Diagnosis , Cushing Syndrome , Humans , Hyperplasia , Magnetic Resonance Imaging , Pituitary ACTH Hypersecretion , Pituitary Neoplasms
13.
Article in English | WPRIM | ID: wpr-257608

ABSTRACT

Coronary artery disease (CAD) is one of the major life-threatening diseases. In addition to traditional risk factors including age, sex, smoking, hypertension,and diabetes, genomic studies have shown that CAD has obvious genetic predisposition. In recent years, the rapid advances in genomics shed new light on early diagnosis, risk stratification and new treatment targets.


Subject(s)
Coronary Artery Disease , Diabetes Mellitus , Genetic Predisposition to Disease , Genomics , Humans , Hypertension , Risk Factors
14.
Article in English | WPRIM | ID: wpr-264597

ABSTRACT

Because of limited viral replication and lack of cytopathic effect in cell culture, a new PCR-based rapid seroneutralization assay for detection of GII.4 norovirus neutralized antibodies was developed with serum samples from acute-phase patients, convalescent-phase patients and healthy controls. According to this study, neutralizing antibodies were detected in 100% of convalescent-phase sera, and in 2.5% of healthy controls sera. However, all of the acute-phase serum samples could not neutralize virus efficiently. Compared to the results from ELISA (96.2% at sensitivity and 80% at specificity), the present in vitro neutralization assay is more specific and more sensitive.


Subject(s)
Antibodies, Neutralizing , Allergy and Immunology , Base Sequence , Caliciviridae Infections , Diagnosis , Virology , Case-Control Studies , Cell Line , DNA Primers , Enzyme-Linked Immunosorbent Assay , Gastroenteritis , Diagnosis , Virology , Humans , Norovirus , Allergy and Immunology , Polymerase Chain Reaction , Methods , Sensitivity and Specificity
15.
Article in English | WPRIM | ID: wpr-284348

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical and magnetic resonance imaging (MRI) findings of pituitary hyperplasia due to primary hypothyroidism.</p><p><b>METHOD</b>The clinical presentations, laboratory examinations, and MRI findings of 11 patients with pituitary hyperplasia secondary to primary hypothyroidism diagnosed at our hospitals from the beginning of 2008 to the end of 2011 were retrospectively reviewed.</p><p><b>RESULTS</b>The clinical manifestations in 11 patients included growth arrest(7/8), mental retardation (6/8), cold intolerance and fatigue(6/11), slightly increased body weight (6/11), galactorrhea (3/11), paramenia (8/9), precocious puberty companying vaginal bleeding (2/2),and blurry vision (3/11). Laboratory investigations revealed grossly increased thyroid stimulating hormone, decreased thyroxine, and slightly elevated prolactin levels in all cases. Thyroid antibody was positive in six cases. On MRI, pituitary mass were detected a large intrasellar with/without suprasellar extension in all patients,showing the characteristic of symmetric enlargement. Spherical shape was viewed in 5 cases,with the height of (12.22 ± 3.12)mm. In the other 6 cases, the pituitary mass with the shape of calabash extended superiorly to suprasellar area, with a height of(18.95 ± 2.23)mm. The signal of pituitary mass was isointense to grey matter both on T1 weighted imaging and T2 weighted imaging. Bright short T1 signal in posterior lobe of pituitary was visible. Pituitary stalk was detected only in 4 cases from MRI without dislocation, while the width of pituitary stalk was within the normal limit.</p><p><b>CONCLUSIONS</b>Pituitary hyperplasia should be considered when homogenous enlargement of the pituitary gland is found on MRI. The integration of MRI findings, clinical manifestations, and laboratory findings is helpful for the proper identification of the primary endocrine disease and thus avoid misdiagnosis.</p>


Subject(s)
Adolescent , Adult , Child , Female , Humans , Hyperplasia , Diagnosis , Hypothyroidism , Diagnosis , Magnetic Resonance Imaging , Male , Pituitary Gland , Pathology , Retrospective Studies , Young Adult
16.
Article in English | WPRIM | ID: wpr-341447

ABSTRACT

The number of new cases of hypophyseal tumor increases along with the advances in neuroimaging technology in recent years. The common treatment models include surgical treatment, radiotherapy, and medical therapies. This article discusses the application of long-term follow-up in non-operative hypophyseal tumor patients and its influence on the prognosis. Meanwhile, since the medical mode has switched from biomedical model to biopsychosocial medical model, management of hypophyseal tumor should not be limited in its biological aspect, but also from the perspective of psychology by providing more humanistic care to meet the patients'psychological needs.


Subject(s)
Follow-Up Studies , Humans , Pituitary Neoplasms , Therapeutics , Prognosis
17.
Article in English | WPRIM | ID: wpr-341422

ABSTRACT

Obesity has become a major health problem worldwide. The prevalence and morbidity of obesity-related diseases including diabetes, hypertension, cerebro-cardiovascular diseases, and tumors also have remarkably increased. Treatment of obesity poses a challenge for clinicians. Anti-obesity treatment is helpful to improve and even reverse obesity-related complications. Diet control and physical exercises remain the predominant interventions for obese patients. Anti-obesity drugs can be considered in those who respond poorly to behavioral intervention or those who have developed obesity-related complications. The commonly used anti-obesity drugs include gastrointestinal lipase inhibitors and appetite suppressants. Glucagon-like peptide 1 has also been found to be effective in reducing body weight. Some more drugs are under development, which include selective 5-HT 2c agonist, β3 receptor agonist, and melanocortin receptor 4 agonist, may also be promising.


Subject(s)
Anti-Obesity Agents , Therapeutic Uses , Appetite Depressants , Therapeutic Uses , Glucagon-Like Peptide 1 , Therapeutic Uses , Humans , Obesity , Drug Therapy
18.
Article in English | WPRIM | ID: wpr-341417

ABSTRACT

<p><b>OBJECTIVE</b>To assess the safety and feasibility of laparoscopic adjustable gastric banding (LAGB) and a multi-disciplinary team (MDT) approach in the treatment of morbid obesity and its complications.</p><p><b>METHODS</b>We retrospectively analyzed the clinical data of 16 patients who underwent LAGB and MDT approach in Peking Union Medical College Hospital from October 2009 to February 2011.</p><p><b>RESULTS</b>Of these 16 patients, 15 patients completed the 3 month follow up; their body weight and body mass index (BMI) decreased significantly after treatment (both P=0.000), with an percentage of excess weight loss (%EWL) of (25.7±7.4)%. Thirteen patients completed 6 month follow up; their body weight and BMI were significantly lower than the preoperative levels (both P=0.001), while there were no significant difference between the third and sixth month measurements (P=0.103 and P=0.053, respectively); %EWL of 6 months after operation was significantly higher than that of 3 months after operation [(37.0±14.7)% vs. (29.1±6.8)%,P=0.042]. Six patients completed 12 month follow up; their body weight and BMI decreased significantly at the first 3 months after operation (P=0.007 and P=0.005,respectively) and at the second 6 postoperative months (P=0.007 and P=0.013,respectively); the BMI of 6 months after operation was significantly lower than that of 3 months after operation (P=0.045), but there was no significant difference of body weight between the third and sixth month after operation (P=0.065); meanwhile, the %EWL increased significantly within the second 3 postoperative months from (29.6±6.8é% to(42.4±14.0é%(P=0.028), and also within the second 6 postoperative months (60.4±12.6é%(P=0.001). In 9 patients with pre-operative obstructive sleep apnea hypopnea syndrome, the symptom was remarkably resolved in all these 9 patients 3 months after the treatment. Of 16 patients with preoperative metabolic syndrome, the condition was obviously improved after treatment in 10 patients. Of 9 patients with hypertension preoperatively, the blood pressure returned to normal level after the withdrawal of antihypertensive agents in 7 patients; in addition, one patient had his dose decreased and one patient switched to a milder antihypertensive agent. Of 8 patients accompanied with type 2 diabetes, 7 had their antidiabetic drugs withdrawn after the blood sugar returned normal and one patient had his dose decreased.</p><p><b>CONCLUSION</b>LAGB combined with MDT approach is effective, safe, and feasible for treating morbid obesity and its complications.</p>


Subject(s)
Adult , Combined Modality Therapy , Female , Follow-Up Studies , Gastroplasty , Methods , Humans , Laparoscopy , Male , Middle Aged , Obesity, Morbid , General Surgery , Retrospective Studies , Treatment Outcome , Young Adult
19.
Chinese Medical Journal ; (24): 551-555, 2011.
Article in English | WPRIM | ID: wpr-241558

ABSTRACT

<p><b>BACKGROUND</b>Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. This syndrome is partially caused by mutations in the human glucocorticoid receptor (hGR) gene. The clinical spectrum of generalized glucocorticoid resistance is broad, ranging from fatigue or no symptoms to severe hypertension with hypokalemic alkalosis. The purpose of this study was to explore the genetic disorder of glucocorticoid resistance syndrome.</p><p><b>METHODS</b>We identified a 56-year-old male patient diagnosed with generalized glucocorticoid resistance syndrome accompanied with an adrenocortical adenoma. This asymptomatic patient referred to Peking Union Medical College Hospital for treatment of his adrenal incidentaloma. Endocrinological evaluation consistently revealed his elevated serum cortisol level. Total RNA was extracted from the patient's peripheral blood mononuclear leukocytes (PBMLs) and entire coding region of hGR alpha was amplified by reverse transcription (RT)-PCR. To confirm the possible mutation identified by sequencing RT-PCR products, genomic DNA sequence of hGR gene from the patient and 50 healthy controls was analyzed by PCR and directly sequencing.</p><p><b>RESULTS</b>A heterozygotic (C→T) substitution at nucleotide position of 1667 (exon 5) in GR alpha gene was found in this patient by sequencing of RT-PCR products of hGR gene. This substitution was also identified at genomic DNA level and it was absent in 100 chromosomes from 50 unrelated health controls. This substitution resulted in a threonine to isoleucine substitution (ACT→ATT) at amino acid 556 in the ligand-binding domain of GR alpha.</p><p><b>CONCLUSION</b>Generalized glucocorticoid resistance in this patient might be caused by a novel heterozygotic mutation in the ligand-binding domain of the GR alpha.</p>


Subject(s)
Adrenocortical Adenoma , Genetics , Drug Resistance , Genetics , Endocrine System Diseases , Genetics , Glucocorticoids , Pharmacology , Humans , Male , Middle Aged , Point Mutation , Receptors, Glucocorticoid , Genetics , Reverse Transcriptase Polymerase Chain Reaction
20.
Article in Chinese | WPRIM | ID: wpr-301604

ABSTRACT

Obesity is a major cause of insulin resistance and type 2 diabetes. The altered glucose homeostasis is caused by faulty insulin signal transduction, which results in decreased glucose uptake by the muscle, altered lipogenesis, and increased glucose output by the liver. The etiology of this derangement in insulin signaling is related to a chronic inflammatory state, leading to the induction of inducible nitric oxide synthase and release of high levels of nitric oxide and reactive nitrogen species, which together cause posttranslational modifications in the signaling proteins. There are substantial differences in the molecular mechanisms of insulin resistance in muscle versus liver. Hormones and cytokines from adipocytes can enhance or inhibit both glycemic sensing and insulin signaling. The role of the central nervous system in glucose homeostasis also has been well established. Multi-pronged therapies aimed at rectifying obesity induced anomalies in both central nervous system and peripheral tissues may prove to be beneficial. The golden standard method to evaluate the insulin sensitivity is hyperinsulinemic euglycemic clamp.


Subject(s)
Diabetes Mellitus, Type 2 , Glucose , Metabolism , Humans , Insulin , Metabolism , Insulin Resistance , Physiology , Obesity , Metabolism
SELECTION OF CITATIONS
SEARCH DETAIL