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Objective To investigate the clinical features of hypopituitarism with nonalcoholic fatty liver disease (NAFLD) in children after sellar tumor surgery and the association between hypopitarism and NAFLD in children. Methods A retrospective analysis was performed for the clinical data of children with hypopituitarism and NAFLD after sellar tumor surgery who were followed up regularly in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2017 to December 2021, and their clinical features were analyzed. Results There were 32 children with regular follow-up and complete clinical data after sellar tumor surgery, and 10 children (31.25%) developed NAFLD, among whom there were 5 boys and 5 girls. Among these 10 children, 9 had craniopharyngioma and underwent surgical treatment, and 1 had germinoma and underwent local radiotherapy. The 10 children had a median age of 8.4(6.29.8) years at the diagnosis of hypopituitarism and a median age of 11.9(8.7-12.6) years at the diagnosis of NAFLD. The median number of years from the diagnosis of hypopituitarism to the diagnosis of NAFLD was 2.0(1.4-4.0) years. At the diagnosis of NAFLD, all 10 children had obesity, and body mass index (BMI) was increased by 7.26±4.25 kg/m 2 on average since the diagnosis of hypopituitarism; the 10 children had a mean fasting blood glucose level of 4.67±0.55 mmol/L, a mean fasting insulin level of 25.40±5.93 μIU/ml, and a mean HOMA-IR index of 5.26±1.29. Among these 10 children, 9 had hypertriglyceridemia, and 1 had elevated triglyceride, with a mean level of 3.08±1.09 mmol/L; 6 children had hypercholesterolemia, with a mean level of 5.67±1.25 mmol/L; 8 children had high-density lipoprotein cholesterolemia, with a mean level of 3.97±1.27 mmol/L. After the diagnosis of NAFLD, 2 children were treated with recombinant human growth hormone and metformin and achieved reductions in BMI, HOMA-IR, and triglyceride after treatment, and total cholesterol and low-density lipoprotein cholesterol were reduced to the normal range. Conclusion Children may experience weight gain, hypopituitarism, insulin resistance, and dyslipidemia after sellar tumor surgery, which may lead to the onset of NAFLD. Weight management and active pituitary hormone replacement therapy are recommended for such children, as well as routine screening and management of fatty liver disease.
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Objective:This study explored the consistency of liquid chromatography-tandem mass spectrometry (LC-MS/MS) and immunoassay for the detection of steroid hormones. The diagnostic value of multiple steroid hormones in 21-hydroxylase deficiency (21-OHD) was investigated and the follow-up indicators were screened.Methods:This experimental group included 109 patients with typical 21-OHD who received standard treatment, and the control group included 94 normal children. 17-hydroxyprogesterone (17-OHP), androstenedione (Δ4-A), testosterone and cortisol were detected by immunoassay and LC-MS/MS method. At the same time, 16 other adrenal steroids were detected by LC-MS/MS method. The experimental group was divided into: (1) overtreatment group: 17OHP<4 ng/ml; (2) well controlled group: 4 ng/ml≤17-OHP<12 ng/ml; (3) poorly controlled group: 17-OHP≥12 ng/ml. The following studies were carried out. (1) The consistency of immunoassay and LC-MS/MS detection results was analyzed; (2) The serum concentrations of various steroid hormones in patients with 21-OHD and the control group were compared to explore the diagnostic value of multiple steroid hormones detection; (3) The concentration differences of 20 kinds of steroid hormones in 21-OHD patients with different therapeutic effects were compared to screen more valuable follow-up indicators.Results:(1) among the four indicators detected by LC-MS/MS and immunoassay, the consistency of T and 17-OHP was high. The concentrations of cortisol and Δ4-A determined by immunoassay were higher than those determined by LC-MS/MS. (2) Among the 20 kinds of steroid hormones secreted by adrenal gland detected by LC-MS/MS, 6 kinds of hormones were significantly higher and 6 kinds of hormones were significantly lower in 21-OHD patients compared with the control group, ,and 8 kinds of steroids showed no statistical difference. (3) 17-OHP decreased and 11-deoxycortisol increased in over-inhibition group, while 17-OHP, pregnenolone, progesterone, 17-hydroxypregnenolone, 21-deoxycortisol, Δ4-A and estrone increased in the poorly controlled group.Conclusions:LC-MS/MS can detect many kinds of steroid hormones at one time with better evaluate dimensions. During the follow-up, only 8 of the 20 hormones were closely related to the control status of patients, suggesting that unnecessary testing work could be reduced.
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The developments of mass spectrometry and gene detection technology and the introduction of newborn screening have led to an expanding population of patients with inherited metabolic diseases.Therapies of inherited metabolic diseases have attracted much attention.The basic principles of management in these diseases are to limite the consumption of nutrients that produce toxic products, supplement deficient substances, and increase excretion of toxic metabolites.Dietary therapy is one of the major treatments for many inherited metabolic disorders, with the starting point of limiting the intake of substrates for metabolic disorders and supplementing products of insufficient synthesis or alternative energy sources to bypass the defective pathway in order to maintain normal growth and development.With more and more special medical formula nutritional foods being put into production and use, dietary therapy become accessible and compliant.With the effective dietary therapy, many patients get clinical symptom controlled, and their quality of life has been improved.This article mainly elaborates the common inherited metabolic diseases dietary therapy.
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Objective:To explore the association between the CYP21A2 genotype and the virilization severity in girls with classic 21-hydroxylase deficiency (21-OHD), so as to further the understanding of virilization in females and provide guidance for prenatal diagnosis and genetic counseling. Methods:A total of 23 patients with two X chromosomes (46, XX) who were newly diagnosed with classic 21-OHD in Wuhan Children′s Hospital from August 2010 to March 2019 were included.These patients were divided into 3 groups according to the Prader grades of the degree of external genitalia masculinization.The 17-hydroxyprogesterone (17-OHP) level, androstenedione (AND) level, testosterone (T) level, dehydroepiandrosterone sulphate (DHEAS) level and genotypes were recorded.The gene mutations were divided into the Null group(the enzyme activity was completely impaired), group A(1% of the normal enzyme activity was retained), group B(2% of the normal enzyme activity was retained) and group C(20%-60% of the normal enzyme activity was retained). The correlation between the gene variation of different Prader grades and the corresponding gene groups were analyzed.Results:All 23 girls showed different degrees of external genitalia masculi-nization.There was a significant positive correlation between the Prader grades and the type of gene variation ( rs=0.696, P<0.001). The gene group A and Null group were highly matched with the Prader Ⅳ(the matching rate: 77.8%). Eighty percent of girls with Prader Ⅱ and Prader Ⅲ were classified as the gene group B. The testosterone le-vel of girls with Prader Ⅳ at first diagnosis was significantly higher than that of girls with Prader Ⅱ [4.6(4.0, 15.0)μg/L vs.0.63(0.40, 1.39)μg/L]( χ2=15.117, P<0.05). Conclusions:There is a significantly positive and strong correlation between the degree of external genitalia masculinization and the degree of deficiency of enzyme activity caused by gene variation in girls with typical 21-OHD.It can provide reference for both parents carrying CYP21A2 gene in prenatal diagnosis, genetic counseling and individualized diagnosis and treatment.
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Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the lack of expression of genes associated with the 15q11.2-q13 region of the paternal chromosome.There are three main types of genetic mechanisms, deletion of the paternal critical region, maternal uniparental disomy and imprinting center defect.Genetic counseling can be carried out based on different genetic mechanisms of PWS, both re-fertility assessments and prenatal diagnoses were performed on couples whose children have already had the disease.The pathogeny and mechanism of PWS are complex.The rapid development of molecular genetics and related research have provided a basis for further understanding of this disease.In this paper, the advances in the genetics of PWS were reviewed.
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Objective To study the impacts of quercetin on alcohol-stimulated liver injury in rats.Methods Thirty Sprague-Dawley rats were randomly divided into control,model,quercetin treatment (40mg/kg,80mg/kg,160mg/kg) groups.Ethanol plus 0.5ml fish oil were used to induce alcoholic liver injury for 6 weeks.Liver injury was evaluated using pathological examination and serum ALT levels.The plasma endotoxin and serum TNF-α,IL-1 and IL-18 levels were analyzed by ELISA method.The expression of CD14,LBP,TNF-α,IL-1 and IL-18 proteins in the liver were measured by Western blot.Results The increased serum ALT,fatty degeneration,focal necrosis and inflammatory cell infiltration in the liver were investigated in model group.In addition,plasma endotoxin,serum TNF-α,IL-1,IL-18 levels,and the expression levels of CD14,LBP,TNF-α,IL-1,and IL-18 proteins significantly elevated in model group compared with control group (P ＜ 0.05).However,quercetin treatment improved histological changes,and significantly reduced the levels of plasma endotoxin and serum TNF-α,IL-1,IL-18,as well as the expression of CD14,LBP,TNF-α,IL-1 and IL-18 proteins (P all ＜ 0.05).Fatty degeneration was still investigated in quercetin treatment group,but focal necrosis and inflammatory cell infiltration disappeared.Conclusion Quercetin can protect liver against necrosis and inflammation induced by alcohol,and the mechanism may involve its effect on the reduction of plasma endotoxia,and inhibition of Kupffer cell activity and proinflammatory cytokine expression.
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Objective To investigate the safety of tanshinone Ⅱ A sodium sulfonate in treatment of acute cerebral hemorrhage.Methods One hundred and seventy-two patients with acute cerebral hemorrhage were divided into tanshinone treatment group with 84 cases (tanshinone Ⅱ A sodium sulfonate + traditional treatment) and traditional treatment group with 88 cases (traditional treatment) according to the method of treatment.The safety (including neural function defect,adverse reactions,rebleeding rate and mortality and so on) were determined before treatment,and 2,4 weeks after treatment.Results The chinese stroke scale (CSS) scores in tanshinone treatment group after treatment of 2,4 weeks were lower than those in traditional treatment group [(13.2 ± 4.3) scores vs.(17.4 ± 5.6) scores,(8.7 ± 3.5) scores vs.(12.8 ± 4.6) scores],there were significant differences (t =5.498,6.556,P ＜ 0.01).The total effective rate in tanshinone treatment group was significantly higher than that in treatment group [83.3 ％ (70/84) vs.65.9 ％ (58/88)],there was significant difference (x2 =6.854,P ＜ 0.01).After treatment with tanshinone Ⅱ A sodium sulfonate in tanshinone treatment group,5 cases of mild skin rash,3 cases of nausea,vomiting,to turn for the better after symptomatic treatment.There was not other adverse reactions in the observation period.The mortality,rebleeding rate in tanshinone treatment group were lower than those in traditional treatment group,but there were no significant differences (P ＞ 0.05).Conclusions Early application of tanshinone Ⅱ A sulfonate treatment in acute cerebral hemorrhage has significantly efficacy,in the process of the clinical application is safe amd reliable.It is worthy of clinical popularization.
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This article reviews and summarizes the research data about vertebrobasilar dolichoectasia in recent years from the aspects of epidemiology,pathogeny,pathology,diagnosis,clinical manifestations,as well as its mechanism and treatment.