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Objective:To improve clinicians' understanding of congenital nephrogenital diabetes insipidus (CNDI) and to reduce missed and misdiagnosis. Methords Based on the literature, the clinical data and gene mutation of 2 patients with CNDI who were admitted to the Department of Endocrinology and Metabolism of the First Affiliated Hospital of Henan University of Science and Technology on July 30, 2020 were analyzed retrospectively. Results:(1) The presentee, 4 years old, had irritable thirst, polydipsia and polyuria for more than 3 years. The sister, 2.5 years old, had irritable thirst, polydipsia and polyuria for more than 2 years. The clinical diagnosis was “CNDI”, and the symptoms improved after treatment with hydrochlorothiazide. (2) The genetic test revealed that the congenital nephrogenic uremia and her sister had a heterozygous mutation of c.170A>C (p.Q57P) and c.211G>A (p.Vl71M) in the aquaporin-2 gene, and the mother carried the AQP2 gene. c.170A>C(p.Q57P) mutation.Conclusion:CNDI is a rare disease. Early diagnosis and treatment can improve the prognosis of patients to the greatest extent, and prenatal diagnosis can guide eugenics.
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We report a case of a female teenage with monogenic diabetes mellitus caused by glucokinase regulator (GCKR) gene mutation who presented with diabetic ketosis and misdiagnosed as type 1 diabetes. The patient was treated with insulin for 3 years since diagnosis. The islet function was well preserved, but polycystic ovary syndrome was developed. Whole-exome gene sequencing revealed a GCKR gene c. 69delG heterozygous mutation. After molecular diagnosis, the insulin dosage was gradually reduced to full cessation, and only metformin sustained-release tablets were taken to control blood glucose. It is necessary to regular evaluate islet function of patient with type 1 diabetes, and genetic test is of significance for accurate diagnosis and treatment.
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One case of 46, XY partial gonadal dysgenesis due to a congenital defect of DEAH-box RNA helicase 37(DHX37) was reported. The clinical and genetic data of a boy who was admitted to the Department of Endocrinology and Metabolism, the First Affiliated Hospital of Henan University of Science and Technology due to ambiguous external genitalia in September 2020 were collected and analyzed. This 3-month-old male patient showed a micropenis, bilateral cryptorchidism, 46, XY karyotype, a decrease in testosterone, anti-Müllerian hormone, inhibin B, an increase in follicle stimulating hormone. Testis biopsy indicated gonadal dysgenesis. The proband harbored a de novo heterozygous mutation in the DHX37 gene c. 923G>A(p.Arg308Gln). DHX37 variants need to be considered for 46, XY gonadal dysgenesis.
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The impairment of islets β cell by autoimmune response is an important cause of type 1 diabetes mellitus (T1DM). Some monogenic autoimmune syndromes could induce T1DM in difference chance, which are important disease models to deeply understand autoimmunity and T1DM. This article reviews the diagnosis, treatment and genetic detection of eight known single gene autoimmune syndromes associated with T1DM, arming to expand the diagnosis and treatment of T1DM.
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OBJECTIVES@#Patients with classical type 1 diabetes mellitus (T1DM) require lifelong dependence on exogenous insulin therapy due to pancreatic beta-cell destruction and absolute insulin deficiency. T1DM accounts for about 90% of children with diabetes in China, with a rapid increase in incidence and a younger-age trend. Epidemiological studies have shown that the overall glycated haemoglobin (HbA1c) and compliance rate are low in Chinese children with T1DM. Optimal glucose control is the key for diabetes treatment, and maintaining blood glucose within the target range can prevent or delay chronic vascular complications in patients with T1DM. Therefore, this study aims to investigate the glycemic control of children with T1DM from Hunan and Henan Province with flash glucose monitoring system (FGMS), and to explore factors associated with glycemic variability.@*METHODS@#A total of 215 children with T1DM under 14 years old were enrolled continuously in 16 hospitals from August 2017 to August 2020. All subjects wore a FGMS device to collect glucose data. Correlation of HbA1c, duration of diabetes, or glucose scan rates with glycemic variability was analyzed. Glucose variability was compared according to the duration of diabetes, HbA1c, glucose scan rates and insulin schema.@*RESULTS@#HbA1c and duration of diabetes were positively correlated with mean blood glucose, standard deviation of glucose, mean amplitude of glucose excursions (MAGE), and coefficient of variation (CV) of glucose (all P<0.01). The glucose scan rates during FGMS wearing was significantly positively correlated with time in range (TIR) (P=0.001) and negatively correlated with MAGE and mean duration of hypoglycemia (all P<0.01). Children with duration ≤1 year had lower time below range (TBR) and MAGE when compared with those with duration >1 year (all P<0.05). TIR and TBR in patients with HbA1c ≤7.5% were higher (TIR: 65% vs 45%, TBR: 5% vs 4%, P<0.05), MAGE was lower (7.0 mmol/L vs 9.4 mmol/L, P<0.001) than those in HbA1c >7.5% group. Compared to the multiple daily insulin injections group, TIR was higher (60% vs 52%, P=0.006), MAGE was lower (P=0.006) in the continuous subcutaneous insulin infusion group. HbA1c was lower in the high scan rates (≥14 times/d) group (7.4% vs 8.0%, P=0.046), TIR was significantly higher (58% vs 47%, P<0.001), and MAGE was lower (P<0.001) than those in the low scan rate (<14 times/d) group.@*CONCLUSIONS@#The overall glycemic control of T1DM patients under 14 years old in Hunan and Henan Province is under a high risk of hypoglycemia and great glycemic variability. Shorter duration of diabetes, targeted HbA1c, higher glucose scan rates, and CSII are associated with less glycemic variability.
Subject(s)
Adolescent , Child , Humans , Blood Glucose , Blood Glucose Self-Monitoring , Diabetes Mellitus, Type 1/drug therapy , Glucose , Glycated Hemoglobin/analysis , Hypoglycemia/prevention & control , Hypoglycemic Agents/therapeutic use , Insulin/therapeutic useABSTRACT
Micropenis is an objective diagnosis based on accurate measurement of the length of the penis. Micropenis can be caused by many factors, including the structure of the hypothalamic-pituitary-gonadal axis or hormone defects. Therefore, examination of the endocrine system is extremely important for the diagnosis of the etiology. Once the diagnosis is confirmed, a multidisciplinary team of endocrinologists, geneticists, pediatricians, pediatric surgeons, and urologists are required to jointly develop individualized treatment plans. This article reviews the etiology, diagnosis and treatment of micropenis, aiming to raise awareness and concern about micropenis.
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@#Objective To investigate the influence of prior percutaneous coronary intervention (PCI) on the outcome of coronary artery bypass grafting (CABG). Methods Clinical data of 5 216 patients from Jiangsu Province CABG registry who underwent primary isolated CABG from 2016 to 2019 were retrospectively analyzed. Patients were divided into a PCI group (n=673) and a non-PCI group (n=4 543) according to whether they had received PCI treatment. The PCI group included 491 males and 182 females, aged 62.6±8.2 years, and the non-PCI group included 3 335 males and 1 208 females, aged 63.7±8.7 years. Multivariable logistic regression and propensity score matching (PSM) were used to compare 30-day mortality, incidence of major complications and 1-year follow-up outcomes between the two groups. Results Both in original cohort and matched cohort, there was no statistical difference in the 30-day mortality [14 (2.1%) vs. 77 (1.7%), P=0.579; 14 (2.1%) vs. 11 (1.6%), P=0.686], or the incidence of major complications (myocardial infarction, stroke, mechanical ventilation≥24 h, dialysis for new-onset renal failure, deep sternal wound infection and atrial fibrillation) (all P>0.05). The rate of reoperation for bleeding in the PCI group was higher than that in the non-PCI group [19 (2.8%) vs. 67 (1.5%), P=0.016; 19 (2.8%) vs. 7 (1.0%), P=0.029]. Both in original cohort and matched cohort, there was no statistical difference in 1-year survival rate between the two groups [613 (93.1%) vs. 4 225 (94.6%), P=0.119; 613 (93.1%) vs. 630 (95.2%), P=0.124], while the re-admission rate in the PCI group was significantly higher than that in the non-PCI group [32 (4.9%) vs. 113 (2.5%), P=0.001; 32 (4.9%) vs. 17 (2.6%), P=0.040]. Conclusion This study shows that a history of PCI treatment does not significantly increase the perioperative mortality and major complications of CABG, but increases the rate of cardiogenic re-admission 1 year postoperatively.
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Maturity-onset diabetes of the young (MODY)is a heterogeneous monogenic diabetes, in which MODY1, MODY2, and MODY3 are the most common subtypes. In recent years, new hypoglycemic drugs such as glucagon-like peptide-1 receptor agonists (GLP-1RA), dipeptidyl peptidase-4 inhibitors (DPP-4i), sodium-glucose co-transporter 2 inhibitors (SGLT2i), and glucokinase activators (GKA)have made good progress in the treatment of diabetes. Based on the latest basic and clinical evidence, the article reviews the pathogenesis, clinical features, diagnosis and treatment progress of new hypoglycemic drugs of the above three types of MODY, aiming to develop safer and more effective new ways for the diagnosis and treatment of MODY.
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This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.
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Objective:To analyze the clinical characteristics and gene detection methods of pseudohypertrophic muscular dystrophy, and to provide evidence for gene diagnosis and genetic counseling.Methods:Ten patients with pseudohypertrophic muscular dystrophy diagnosed clinically in the First Affiliated Hospital of Henan University of Science and Technology from March 2018 to March 2019 were selected. The clinical features were analyzed and multiplex ligation probe amplification technique (MLPA) was detected, and exon sequencing was performed in some patients.Results:Ten patients with clinical diagnosis were diagnosed as pseudohypertrophic muscular dystrophy in 9 cases and limb band muscular atrophy in 1 case. The ratio of male to female was 8∶1 in 9 cases. Exon region large deletion of Duchenne muscular dystrophy (DMD) gene was found in 6 cases, and point new mutation in 3 cases. The three possible new mutations of DMD gene were c. 10222delA、c.5697dupA、c.676_678del.Conclusions:Patients with typical symptoms but inconsistent with X-linked recessive inheritance still need DMD genetic detecting; patients with negative MLPA testing need full exon sequencing; patients with mental retardation should pay attention to avoid misdiagnosis.
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Objective@#This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease.@*Methods@#Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed.@*Results@#There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative.@*Conclusion@#MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
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Objective This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease. Methods Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed. Results There were 4 females and 1 male, with low calcium, high phosphorus and high PTH seran con centrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There wer was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification ( MS-MLPA ) detection while gene sequeming result was negative. Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
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Objective To analyze the application effect of glass fiber pile and cast metal pile in tooth defect repair and its influence on periodontal tissue.Methods From February 2014 to February 2015,112 patients with dental defect in the Central Hospital of Yiwu were randomly divided into the control group and the research group according to the digital table,with 56 cases in each group.The control group received the casting metal pile repair,the research group was repaired with glass fiber piles.The remediation effect,periodontal tissue status,inflammatory response and adverse reaction were compared between the two groups.Results The success rate of the research group was significantly higher than that of the control group(89.29％vs.66.07％),and there was statistically significant difference(χ2 =8.70,P<0.05).After treatment,the alkaline phosphatase,interleukin-6(IL-6)and interleukin-8(IL-8)levels of the two groups were increased compared with before treatment,which of the research group were obviously lower than those of the control group [(440.75 ±55.75)U/L vs.(491.75 ±62.59)U/L,(18.77 ± 2.21)ng/L vs.(30.65 ±3.97)ng/L,(51.42 ±6.32)μg/L vs.(76.33 ±9.50)μg/L],there were statistically significant differences(t=4.52,19.56,16.33,all P<0.05).After treatment,the periodontal examination depth of the two groups was(2.15 ±0.29)mm and(2.17 ±0.25)mm,respectively,and there was no statistically significant difference(t=0.39,P>0.05).Conclusion The effect of glass fiber pile in tooth defect repair is better than cast metal pile,and its stability and biocompatibility are better,and it is a simple operation,which is worthy of clinical promotion.
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Insulin autoimmune syndrome ( IAS) is a rare type of hypoglycemia. Chinese herbal extract may induce IAS, which seems to be associated with some Chinese herb medicine ingredients of paste which contains sulfhydryl group. In order to attract the attention of the clinicians, we should raise awareness of the disease, and avoid unnecessary operation or serious adverse consequences. This paper reviewed domestic reports in lately 30 years of diagnosis and treatment of IAS, evaluated traditional Chinese medicine and traditional Chinese medicine compound preparations which contain sulfhydlyl group.
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Objective To investigate the positive practice environments ( PPE ) of nurses and influencing factors at public hospitals , for reference of building a better PPE .Methods A national cross-sectional survey was performed at 77 public hospitals across seven provinces/metropolises, involving 5374 nurses.PPE included organizational management (internal) and nurses-patient relationship (external). Results The scoring of positive practice environment was 18.51 ±4.69 (total score of 40).The scoring of organizational management and nurses-patient relationship was 9.87 ±3.11 and 8.64 ±2.51 respectively. The scoring of PPE of nurses of general hospital ( GH) was higher than that of traditional Chinese medicine hospital(TCMH) (18.68 ±4.68 versus 18.08 ±4.67, P<0.01).Multivariable analysis showed that , compared with nurses who had not very much pressure about performance assessment , the scores of those who had were declined (βGH =-1.15, 95％CI: -1.55 to -0.76;βTCMH =-1.29, 95％CI: -1.92 to-0.66 ) );compared with nurses who paid less efforts in communicating with their patients , the scoring of those with greater efforts was higher (βGH =2.43, 95％CI:2.00 to 2.86;βTCMH =2.84, 95％CI:2.19 to 3.49).Conclusions PPE of nurses is poor in general in China , and the externally stressful nurse-patient relationship deserves greater attention and efforts than inefficient organization management internally .To improve PPE of nurses , hospitals need to moderate nurses′performance assessment and the nurses need to pay more attention to patient communication .
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Objective To evaluate and compare the efficacy and safety of laparoscopic surgery in the treatment of elder colorectal cancer patients.Methods Selected the retrospective or prospective studies which were retrieved in Pubmed,web of Science,Embase as laparoscopic,laparoscopic colectomy,colorectal cancer,rectal cancer,octogenarian,elderly published between Jan.2000 and May 2017.Data regarding operative indexes,postoperative complications and long term outcomes were analyzed by Stata12.0 software.Results A total of 18 articles,included 3 162 patients,were enrolled in this study.The Meta-analysis indicated that there were no significant differences of less blood loss,postoperative wound infection,bowel obstruction and cardiovascular complications in laparoscopic surgery group except the operative time (P ＜ 0.05).No significant difference was found in the number of dissected lymph node,pneumonia,overall survival and disease free survival (P ＞ 0.05).Conclusion With advantages of rapid postoperative recovery and fewer complications,laparoscopic radical resection for colorectal cancer in elderly patients is safe and effective.
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Objective To evaluate and compare the efficacy and safety of laparoscopic surgery in the treatment of elder colorectal cancer patients.Methods Selected the retrospective or prospective studies which were retrieved in Pubmed,web of Science,Embase as laparoscopic,laparoscopic colectomy,colorectal cancer,rectal cancer,octogenarian,elderly published between Jan.2000 and May 2017.Data regarding operative indexes,postoperative complications and long term outcomes were analyzed by Stata12.0 software.Results A total of 18 articles,included 3 162 patients,were enrolled in this study.The Meta-analysis indicated that there were no significant differences of less blood loss,postoperative wound infection,bowel obstruction and cardiovascular complications in laparoscopic surgery group except the operative time (P ＜ 0.05).No significant difference was found in the number of dissected lymph node,pneumonia,overall survival and disease free survival (P ＞ 0.05).Conclusion With advantages of rapid postoperative recovery and fewer complications,laparoscopic radical resection for colorectal cancer in elderly patients is safe and effective.
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Objective To explore the influence of thyroid dysfunction in the first half pregnancy (≤20 gestational weeks) on gestational diabetes. Methords By adopting the method of prospective intervention study, general data of pregnant-women in the care clinics of our hospital were collected. Thyroid function was detected and evaluated by ATA criteria. All cases were divided into two groups: normal thyroid function group and thyroid dysfunction group. The thyroid dysfunction group was intervened. 75 g OGTT were conducted in all cases in 24-28 gestational-weeks. GDM was diagnosed by IADPSG diagnostic criteria. GDM prevalence was compared between normal thyroid function group and abnormal thyroid function groups. Results 1 062 cases of pregnant women were collected. 857 cases of pregnant women were normal, while 14 cases were subclinical hyperthyroidism (1.32%), 164 cases were subclinical hypothyroidism (15.4%), 22 cases were hypothyroxinemia (2.07%). Compared with normal thyroid function, prevalence rate of GDM was the highest in hypothyroxinemia group (54.5% vs 27.8%). There was no significant difference between subclinical hypothyroidism group and normal thyroid function group. Conclusion Thyroid dysfunction in the first half pregnancy is associated with GDM , Screening and treatment of pregnant thyroid dysfunction should be attached.
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InLao PDR, the National Malaria Control Program (NMCP) evaluates bednet coverage,often at the village level, using a coverage target of one net per 2.5 (or fewer)persons in a given population. However, in villages that meet the target, notall households necessarily meet the target or utilize all available bednets. Thisstudy explored households that fell short of the target and household utilizationof bednets in villages that met the target of bednet coverage set by the NMCP. Thepersons per net ratio (PPNR), which is defined as the population divided by thenumber of available bednets in a household/village, was used to determine whethera household/village met the NMCP target. Using a household survey, we collectedand analyzed the data of 635 households in 17 villages in Xepon district in2012. Households that fell short of the target (households with a PPNR of >2.5 or no bednet) existed in every village. The proportion of these households differedgreatly among the villages, ranging from 3.4–50%, with some households fallingfar short. Of the 635 households, 275 (43.5%) had at least one bednet that wasnot being used on the night preceding the survey and 131 (20.6%) had at leasttwo. In conclusion, in villages that met the NMCP target, a considerable numberof households fell short of the target. Available bednets were not fullyutilized in many of the surveyed households.
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In Lao PDR, the National Malaria Control Program (NMCP) evaluates bednet coverage, often at the village level, using a coverage target of one net per 2.5 (or fewer) persons in a given population. However, in villages that meet the target, not all households necessarily meet the target or utilize all available bednets. This study explored households that fell short of the target and household utilization of bednets in villages that met the target of bednet coverage set by the NMCP. The person per net ratio (PPNR), which is defined as the population divided by the number of available bednets in a household/village, was used to determine whether a household/village met the NMCP target. Using a household survey, we collected and analyzed the data of 635 households in 17 villages in Xepon district in 2012. Households that fell short of the target (households with a PPNR of > 2.5 or no bednet) existed in every village. The proportion of these households differed greatly among the villages, ranging from 3.4–50%, with some households falling far short. Of the 635 households, 275 (43.5%) had at least one bednet that was not being used on the night preceding the survey and 131 (20.6%) had at least two. In conclusion, in villages that met the NMCP target, a considerable number of households fell short of the target, and the available bednets were not fully utilized in many of the surveyed households.