Hematological phenotype analysis of fetuses and patients with hemoglobin H disease / 中华地方病学杂志

Objective:To analyze the relationship between hematological and genotype characteristics of fetuses and patients with hemoglobin (Hb) H disease and their natural disease progression.Methods:From 2010 to 2022, a total of 1 252 blood samples from fetuses and patients with Hb H disease who visited the Guangxi Zhuang Autonomous Regional Maternal and Child Health Hospital were collected (including 174 umbilical cord blood samples, 1 062 peripheral blood samples from patients over 2 years old, and 16 peripheral blood samples from patients with rare cases of genotype Hb H). Additionally, 278 peripheral blood samples were collected from patients aged 0 - 2 years old with Hb H 3.7, Hb H 4.2, Hb H CS, and Hb H WS disease for the study of trends in red blood cell development. Multiple probe hybridization and microarray comparative genomic hybridization technology combined with first-generation Sanger sequencing were used for rare mutation detection.Results:Among the 1 062 Hb H disease patients over 2 years old, 62.34% (662/1 062) had gene deletion (--/-α), of which Hb H 3.7 (-- SEA/-α 3.7) and Hb H 4.2 (-- SEA/-α 4.2) were the most common, accounting for 42.28% (449/1 062) and 19.11% (203/1 062) of the total, respectively. Among the non-deletion genotypes (--/αα T or α Tα/αα T), Hb H CS (-- SEA/α CS), Hb H WS (-- SEA/α WS) and α CSα/α CSα accounted for 16.85% (179/1 062), 16.48% (175/1 062) and 1.98% (21/1 062), respectively. The 81.12% (537/662) of patients with deletional Hb H disease showed mild to moderate anemia, with Hb H detection rates ranging from 75% to 80%. Among non-deletional Hb H disease, Hb H WS disease showed the mild (blood Hb concentration > 95 g/L in 90% of patients) phenotype while Hb H CS and Hb H QS (-- SEA/αα QS) patients had moderate to severe anemia, with Hb H detected in peripheral blood at higher levels than in other types of Hb H disease patients. Except for Hb H CS and Hb H QS, which did not show a significant increase in Hb A2 levels when complicated with β-thalassemia, Hb A2 levels were increased (> 3.5%) in all other types of Hb H disease patients. When Hb H disease was complicated with β-thalassemia, Hb H peaks were not detected in either type of Hb H disease. The results of red blood cell development trend detection showed that erythrocyte counts were elevated in patients with Hb H disease compared to their normal counterparts; whereas, blood Hb, mean erythrocyte volume (MCV) and mean erythrocyte hemoglobin content (MCH) were lower than in their normal counterparts ( P < 0.05) and decreased to the minimum at 6 months to 1 year of age. Patients with Hb H CS disease, as the most severe form of anemia, had the highest MCV values ( P < 0.001). The results of fetal cord blood with Hb H disease showed that α CSα/α CSα caused severe intrauterine anemia, followed by Hb H QS and Hb H CS. The content of Hb Bart's in umbilical cord blood was negatively correlated with the severity of anemia ( rs = - 0.58, P < 0.001). When Hb H disease was complicated with β-thalassemia, there was no significant improvement in fetal anemia, and the Hb Bart's content did not change significantly ( P > 0.05). In addition, Hb H 21.9 (-α 21.9kb/-- SEA) and Hb H 2.4 (-α 2.4/-- SEA) were common in patients with deletion rare Hb H. In patients with non-deletion rare Hb H, αα Amsterdam-A1/-- SEA and αα Hb G-Georgia/-- SEA were both first reported. Conclusions:There is heterogeneity in clinical manifestations of patients with different types of Hb H disease or same type of Hb H disease at different developmental stages. When patients with Hb H are complicated with β-thalassemia, the phenotype of patients with the deletion type is improved, while that of patients with the non-deletion type is not. Compared to normal individuals, patients with Hb H disease have lower blood Hb concentration, MCV and MCH, and more rapid physiological changes in red blood cells.

FBN1 gene mutation in a Chinese pedigree of mild Geleophysic dysplasia type 2/Acromicric dysplasia and the exploration of growth-promoting therapy / 中华内分泌代谢杂志

Objective:To summarize the clinical and genetic features of 7 patients with a mild form of Geleophysic dysplasia type 2(GD2)/Acromicric dysplasia(AD) induced by fibrillin 1(FBN1) gene mutation from one Chinese family.Methods:A Chinese pedigree of mild GD2/AD treated at the Pediatric Endocrinology Department at the First Affiliated Hospital of Sun Yat-sen University between August 2017 and May 2022 was collected. Whole-exome genetic sequencing of the FBN1 gene were performed to establish the diagnosis. Additionally, a literature review was further conducted.Results:In this family, among 13 individuals spanning three generations, there were 7 affected cases, including 1 adult female, 1 adult male, and 5 children. All individuals exhibited postnatal growth failure, severe disproportionate short stature, and lacked typical facial features. Exome sequencing and Sanger sequencing confirmed the presence of a heterozygous missense mutation c. 5099A>G(p.Tyr1700Cys) in exon 42 of the FBNI gene in 6 affected individuals(Ⅱ-1, Ⅲ-1 to Ⅲ-5), which was identified as a pathogenic mutation. This mutation was previously reported in a Chinese classical achondroplasia(AD) family. Based on comprehensive genetic analysis, clinical features, and multisystem evaluation, 3 cases were diagnosed with mild type 2 growth hormone deficiency(GD2), and 4 cases were diagnosed with mild AD. Recombinant human growth hormone(rhGH; 1.1-1.4 IU·kg -1·week -1) was applied to all the 5 children, and additional gonadotropin releasing hormone analogue(GnRHa) was administered to the 2 girls in late puberty, resulting in certain growth-promoting effect. Conclusions:The c. 5099A>G(p.Tyr1700Cys) mutation not only leads to the classical type of achondroplasia(AD) as reported in the literature but also causes the non-classical GD2 or AD(mild GD2/AD). Further research is warranted to investigate the long-term therapeutic effects of rhGH treatment.

Efficacy of letrozole in treatment of male adolescents with idiopathic short stature / 浙江大学学报·医学版

To evaluate the efficacy and safety of aromatase inhibitor letrozole in treatment of male adolescents with idiopathic short stature (ISS). Seventy five boys with height less than 2 standard deviation (SD) below the mean who had entered puberty were enrolled in our study from 2004 to 2017, in the Pediatric Department of the First Affiliated Hospital, Sun Yat-Sen University. Among 75 patients, 28 in letrozole group received letrozole and spironolactone, 30 in gonadotrophin releasing hormone analogue (GnRHa) group received GnRHa injection and 17 had no intervention. Height velocity (HV), increment of bone age/chronological age (ΔBA/ΔCA), the final adult height (FAH) were compared among groups and the safety of letrozole treatment was evaluated. HV maintained faster during letrozole treatment when compared with other groups. HV during GnRHa treatment showed slightly decline in the first 6 months, but decreased remarkably after 6 months, and was significantly lower than that in letrozole group ( < 0.05). The maturation of BA slowed down in both letrozole and GnRHa groups. But the ΔBA/ΔCA in letrozole group during the first and the second year of treatment were significantly higher (0.67±0.09, 0.50±0.15, respectively) when compared with GnRHa group (0.59±0.16, 0.44±0.13, respectively) ( =2.78 and 2.20, all < 0.05). FAH in letrozole group and GnRHa group were (170±4) cm and (170±6)cm, there was no significant differences between the two groups ( >0.05), and both were higher than that in no intervention group (162±4 cm, < 0.01). After 6 months of letrozole treatment, testicular volumes and serum testerone levels increased; 39.2% (11/28) boys had clinical manifestations of hyperandrogenemia, and 82.1% (23/28) boys had decreased serum high-density lipoprotein (HDL) levels. Serum levels of HDL and testerone returned normal and the hyperandrogenemia disappeared after the cessation of letrozole treatment. No significant changes in serum triglyceride, serum low-density lipoprotein (LDL), fating serum levels of insulin and glucose, HOMA-IR were observed. No abnormal liver function, myalgia, scoliosis or aggravations of scoliosis was found. Long term letrozole therapy during puberty in boys with ISS can delay bone maturation without significant decrease of linear growth, and thus can improve the final adult height. No severe adverse reactions were found.

An evaluation of the risk factors for orchidism and the efficacy of intensive corticosteroids therapy for the complicating testicular adrenal rest tumors in the patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during the childhood and pubescent stages / 中华内分泌代谢杂志

Objective To explore the risk factors for orchidism and the curative efficacy of intensive corticosteroids therapy for the testicular adrenal rest tumors ( TART ) in the patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency ( 21OHD) during childhood and pubescent periods. Methods A total 12 cases (27 case-times) with TART were adopted in intensive corticosteroids therapy, 7 cases (7case-times) as control group without intensive therapy. Retrospective analysis following parameters:( 1) The testicular volume and the echogenic characteristics of TART by B-mode ultrasound. ( 2 ) Serum levels of FSH, LH, testosterone, 17-hydroxyprogesterone, androstendion, and inhibin-B were measured. ( 3 ) Orchidism was defined by one of following events:serum level of inhibin-B≤3rd％ for norm, and/or serum level of testosterone<1. 47 ng/ml for the individual which is already in TannerⅣstage. ( 4) The relationship between regression of TART and intensive therapy project. Results The prevalence of TART in 21-OHD was 28.18％during 2-18 years old, and the youngest age with TART was 2. 48 year of old. The regression rate of TART by intensive therapy was higher than that of the control significantly, 20/30 and 1/11(tumor-times) respectively(P=0.004). When the dose of dexamethasone≥30％ of total doses of corticosteroids, the regression rate of TART was higher than those less than 30％ ones, or adopted hydrocortisone alone, were both respectively 16/20 and 4/10(P=0.045). The risk factors for orchidism related to early diagnosis:The TARTs stages in diagnosis (≥stages III;P=0.003) , the tumor in size, hyperechogenicity in B ultrasound of the tumors ( P = 0. 003 ) . Inhibin-B is the earliest displayed biochemical warker for orchidism. Conclusions The TART could regress when got early diagnosis and adopted intensive corticosteroids therapy on time. Delayed diagnosis was the main risk factor for orchidism. For early diagnosis of TART, we suggest to conduct the scrotal ultrasound regularly started from 2 years of age.

Protective effects of Cordyceps sinensis polysaccharide CPS-A on angiotensin Ⅱ-induced injury of liver L02 cells / 中国药科大学学报

This study aimed at the molecular mechanism of Cordyceps sinensis polysaccharide-A(CPS-A) on angiotensin (Ang Ⅱ)-induced injury of L02 cells.The effect of AngⅡ and CPS-A on the proliferation of L02 cells was analyzed by MTT assay.PCR,Real-Time PCR and Western blot were also employed to determine the expression of IL-1β,AT1R,AT2R,NF-κB p65,TNFα and other inflammatory factors at mRNA and protein levels.The results showed that Ang Ⅱ and CPS-A could inhibit the proliferation of L02 cells by 1 × 10-5 mol/L and 200 μg/ mL,respectively.PCR,Real-Time PCR and Western blot showed that CPS-A could significantly down-regulate IL-1 β,TNF-α,NF-κB and AT1R.CPS-A has a good protective effect on AngⅡ-induced L02 cell injury.

Metabolism and Axis of Early Menarche Girls and Girls Treated with GnRHa / 中山大学学报(医学科学版)

[Objective] We assessed in a retrospective unicenter study the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogs (GnRHa).[Methods] Thirty-nine early menarche girls and 58 girls who had been treated with GnRHa were enrolled in our study and 19 normal menarche girls were enrolled as control group.Data were collected in height,weight,gonadal hormone,blood glucose,insulin,blood lipid,leptin,adiponectin and the size of uterus and ovary.[Results] Both BMI SDS for chronological age (CA) and for bone age (BA) of early menarche girls were significantly higher than normal menarche girls (P ＜ 0.05).The ratio of insulin resistance in early menarche girls (20.5％) was also significantly higher than normal girls (0％).No significant difference in lipid metabolism and gonadal axis between two groups.In girls treated with GnRHa,BMISDS,insulin,HOMA-IR and the ratio of insulin resistance (20.7％) were all significantly higher than normal group (P ＜ 0.05).Meanwhile,DHEAS,androstenedione and testosterone of GnRHa treated girls were significantly higher than early menache girls,and DHEAS was higher than normal girls.The size of uterus in treated group was larger than the other two groups.[Conclusion] Early menarche and GnRHa treatment may take negative effect to BMI and glucose metabolism.Androgen was higher in GnRHa treated group.Therefore,suggestion was that BMI,insulin,blood glucose and androgen should be monitored in early menarche girls and girls treated with GnRHa.

Efficacy of Short-term Metformin Treatment on Nonalcoholic Fatty Liver Disease in Obese Children / 中山大学学报(医学科学版)

[Objective] To observe the efficacy of metformin treatment on non-alcoholic fatty liver disease (NAFLD) in obese children.[Methods] A retrospective analysis was performed of 10 patients over 10 years old with NAFLD from July 10,2013 to August 23,2016.These patients were treated with metformin in pediatric endocrinology outpatient department of the First Affiliated Hospital of Sun Yat-sen University.The changes of liver ultrasonography,hepatic enzymes,blood lipids,blood glucose,insulin,HOMA-IR,BMI,and waist circumference height ratio were compared before and after treatment with metformin.[Results] There were 10 cases of NASH,including 5 boys and 5 girls.The short-term treatment of metformin reduced the levels of ALT,AST,and HOMA-IR for all 10 patients (P ＜ 0.01).ALT,gradually decreased with the course of treatment.Fasting insulin and waist circumference to height ratio also improved with the treatment (P ＜ 0.05);the changes of TG,BMI,and fast glucose were not obvious (P ＞ 0.05).[Conclusion] Metformin can effectively reduce liver enzymes and improve insulin sensitivity in children with NASH in short term,the improvement of TG and BMI in short term is not obvious.

Utilization of furosemide/hydrochlorothiazide load test in differential diagnosis of Bartter syndrome from Gitelman syndrome in children / 临床儿科杂志

Objective To explore the application of furosemide/hydrochlorothiazide load test in clinical classification of Bartter syndrome and Gitelman syndrome and the significance of selecting target genes. Method The clinical features, biomarkers, the furosemide/hydrochlorothiazide load test, and gene detection in 5 patients with Bartter syndrome and Gitelman syndrome were retrospectively analyzed during 2012 to 2014. Results All of those 5 patients were manifested low potassium and metabolic acidosis; basis of renin, angiotensin II, and aldosterone were elevated. The blood pressures were normal. Most of the patients suffered from polydipsia, diuresis, and different degrees of growth retardation. The gene analysis of these 5 patients made the same diagnoses as furosemide/hydrochlorothiazide load test did. Conclusions Furosemide/hydrochlorothiazide load test can make a differentiation of Bartter syndrome from Gitelman syndrome and thus it can guide the selection of targeted gene detection.

The value of combined tests of hemoglobin electrophoresis and genetic testing in neonatal cord blood screening for β-thalassemia / 国际检验医学杂志

Objective To explore the clinic utility of Hb A level in neonatal cord blood screening for β‐thalassemia .Methods A total of 1 599 neonatal cord specimens whose parents were carriers of β‐thalassemia prenatal diagnosised by routine molecular genet‐ic were collected by cordocentesis .These samples were analyzed by the capillary electrophoresis system (Sebia) .Results Among 1 599 fetuses ,186 were diagnosed as β‐thalassemia carriers ,68 were β‐thalasseima intermedia/major .ROC analysis demonstrated that the optimal cutoff value for identifying β‐thalassemia carrier from the Hb A level was 5 .15% (sensitivity = 83 .9% , specificity = 82 .3% ) ,and that was 3 .2% for β‐thalasseima intermedia/major (sensitivity = 100 .0% ,specificity = 99 .4% ) .Conclu‐sion The Hb A level of cord blood was an effective marker to screen the β‐thalassemia for fetuses and is therefore well‐suited for clinical diagnostic use .

Efficacies of rhGH alone and rhGH combined with stanozolol therapies on growth velocity of girls with Turner syndrome / 实用医学杂志

Objective To compare the different efficacies of recombinant human growth hormone (rhGH) alone and rhGH combined with low-does stanozolol on growth velocity (GV) of girls with Turner syndrome (TS). Methods 51 girls with TS were divided into two groups: Group 1 (n = 23) were treated with rhGH alone and group 2 (n = 28) with rhGH combined with low-does stanozolol both for more than six months. The two groups were compared in terms of GV, height standard deviation score for chronologic age (HtSDSCA), HtSDS for bone age (HtSDSBA), HtSDS (ΔHtSDS) and the ratio of ΔBA/ΔCA. Results In the first year, the GV was (6.29 ± 1.44) and (8.13 ± 1.87) cm/a in Group 1 and Group 2, respectively. HtSDSCA changed from (-3.51 ± 0.99) to (-3.19 ± 1.09) and (-4.21 ± 1.19) to (-3.43 ± 1.06), and ΔBA/ΔCA was (0.60 ± 0.39) and (0.77 ± 0.56) in Group 1 and Group 2, respectively. The GV and ΔHtSDS in Group 2 were significantly better than Group 1 (P < 0.05). The GV was negatively correlated with the age. Conclusion Compared with the therapy with rhGH alone, the one with rhGH combined with low-dose stanazolol is more effective in improving GV without accelerating bone maturation among the girls with Turner syndrome.

Menstrual regularity among early menarche girls and girls treated with GnRHa / 中华内分泌代谢杂志

Objective To assess the effect of early menarche and treatment with gonadotropin-releasing hormone analogs ( GnRHa ) in girls with central precocious puberty ( CPP ) or early and fast puberty ( EFP ) on menstrual regularity. Methods Six hundred and ten healthy girls were recruited and their menarche age and menstrual cycle were recorded. 169 CPP or EFP girls treated with GnRHa were followed up, and their menarche age and menstrual cycle were also recorded. Results There were 129 girls with irregular menstruation among 610 healthy girls(21. 1%), with 10 in 44 early menarche girls(22. 7%) and 11 in 44 late menarche girls(25. 0%). Compared with normal menarche girls(17. 2%), no significant difference was found in the incidences of irregular menstruation in early and late menarche girls. The incidences of dysmenorrhea were 41. 1% in normal girls and 50. 0% in early menarche girls, without significant difference. There was a higher incidence of irregular menstruation in 113 CPP girls and 56 EFP girls treated with GnRHa compared with healthy girls (31. 4% vs 21. 1%, P0. 05). Fifty-seven cases treated with GnRHa(33. 7%) suffered from dysmenorrhea, and there was no significant difference as compared with healthy girls and girls with early menarche. Conclusion The incidence of irregular menstruation was similar in early menarche girls and normal girls. CPP and EFP girls with GnRHa treatment had a significantly higher incidence of irregular menstruation than normal girls, but no difference was found as compared with girls with early menarche. Early menarche and GnRHa treatment did not affect the incidence of dysmenorrhea.

Effect of gonadotropin-releasing hormone analogue treatment on body mass index in central precocious puberty or early and fast puberty girls / 中华内分泌代谢杂志

Objective To study the effect on body mass index ( BMI ) caused by treatment with Gonadotropin-releasing hormone analogs ( GnRHa) in girls with central precocious puberty ( CPP) or early and fast puberty ( EFP ) . Methods The BMI in 318 girls ( 227 CPP and 91 EFP ) treated with GnRHa alone was analyzed. Among them 89 were followed up to their final adult height. Results Before GnRHa treatment was started, thegirlswithCPPandEFPhadameanBMIstandarddeviationscore(SDS)forchronologicalage(BMISDSCA)of0.39 ±0.84andforboneage(BMISDSBA)of-0.11±0.69. Attheendoftreatment,themeanBMISDSCAwas0.59±1.01 and BMISDSBA was 0. 24 ± 0. 89, both were significantly higher than those at initiation. The increment in BMISDSBA (0.38±0.50)wasgreaterthanthatinBMISDSCA(0.21±0.56). Moreover,theratioofoverweight(BMI>85%)was significantly elevated. BMISDSCA of 89 girls who were visited at their final adult height was 0. 17 ± 1. 15, which was similar with BMISDS at initiation and in normal population. Conclusion The mean BMISDSCA of CPP and EFP was significantly higher than the general population, while BMISDSBA was significantly lower. During GnRHa treatment, BMISDS tended to be elevated. But it was reversible, for the mean BMISDS was back to normal at final adult height.

Genotypes of 1 571 cases of Hb H disease in Guangxi area / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the status and genotypes of Hb H disease in GuangXi area.</p><p><b>METHODS</b>Human genomic DNA of 50 377 suspected thalassemia patients was extracted from blood, amniotic fluid and chorionic villi by beads. The deletion of α-thalassemia was detected by Gap-PCR, and the gene mutation of α or β-thalassemia was detected by PCR- RDB. Performing multiplex ligationdependent probe amplification detection and gene sequencing in α or β-globin for the specimens in question.</p><p><b>RESULTS</b>There were 1 571 Hb H disease patients in total from 2011 to 2013, and the detection rates were 2.82%, 3.54% and 3.00% respectively. The vast majority of patients had the Southeast Asian deletion (--(SEA)) on one allele. The - α³·⁷ (rightward) deletion was the most common on the other allele, followed by Hb Constant Spring (Hb CS), the -α(4.2) (leftward) deletion, Hb Westmead (Hb WS) and Hb Quong Sze (Hb QS) mutations. There were 33 Hb H disease patients which genotypes was α(CS)α/α (CS)α. Five patients had THAI deletion(--(THAI)) with deletion or point mutation of α-thalassemia. 95 patients had concomitant β-thalassemia (β-thal) heterozygosity. Tere was a novel genotype of --(SEA)/-α²¹·⁹ causing Hb H disease.</p><p><b>CONCLUSION</b>GuangXi area had a high accidence of Hb H disease, the results reflected the genetic diversity and genetic heterogeneity of Hb H disease, the latter may also occur new mutations or combined β-thalassemia, some effective measures should be taken to strengthen screening efforts to prevent underdiagnosis of Hb H disease.</p>

Gene distribution characteristics of deletional α-thalassemia in Guangxi region / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area, and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.</p><p><b>METHODS</b>The regular gene diagnosis of 3 types of α-thal (-- (SEA),- α(3.7),- α(4.2)) was performed by gap-PCR, multiple ligation probe and gene sequencing for globin α or β were used to detect those samples whose genotype and phenotype were not consistent. And the distribution characteristic of α-thalassemia gene in Guangxi area was then analyzed.</p><p><b>RESULTS</b>Out of 51 191 suspected thalassemia patients, there were 19 853 cases of deletional a-thalassemia, accounted for 39.9% in total positive rate, including 19 780 cases of regular types(--(SEA), - α(3.7), - α(4.2)), 61 cases of Thailand-type deletion, 9 cases of triplet type (Hong Kong) (ααα(HK)), 1 case of 21.9 kb deletion type and 2 cases of 809 bp deletion type.</p><p><b>CONCLUSION</b>Types of deletional a-thalassemia were complex and accounted for large proportion in Guangxi area. Special gene diagnoses were needed for those couples whose genotype and phenotype were not consistent, in order to provide reliable basis for genetic counseling and prenatal diagnosis.</p>

Mutation analysis of beta thalassemia gene in Guangxi Zhuang Autonomous Region / 中华地方病学杂志

Objective To investigate the occurrence of regular and rare types of beta thalassemia in Guangxi,and to reduce the misdiagnosis and missed diagnosis.Methods Between Jan 2010 and Dec 2013,42 770 patients (20 740 males and 22 030 females,one month to fifty-four years old) from Maternal and Child Healthy Hospital of Guangxi,who were suspected with thalassemia were involved in this study.All these patients were went through the following screening tests:routine blood cell count,hemoglobin electrophoresis test,and serum iron and ferritin tests.Positive patients in the screening test would be taken gene diagnosis with regular reverse dot blot (RDB) method; negative patients in gene diagnosis but positive in the screening test would be under the test of beta globin gene sequencing.Results Totally 28 101 patients were confirmed with thalassemia from 42 770 suspected patients,including 10 891 patients with beta thalassemia,49 patients were homozygous,10 718 patients were heterozygote,and 124 patients were compound heterozygous.After beta globin gene sequencing test,14 regular mutations in people of south China and 7 rare types mutations were detected,the detection rate of rare type of beta thalassemia was 17.949％ (7/39).Conclusions Mutation spectrum of beta thalassemia in Guangxi is complex.Gene diagnosis of rare type thalassemia needs to be done in patients with phenotypes of thalassemia and negative of regular gene diagnosis,in order to reduce misdiagnosis,and improve accuracy of clinical diagnosis.

Effect of combined treatment with GnRHa and GH on linear growth in mid-and late pubertal girls at great bone ages with CPP or EFP and rela-tion to CNP signaling pathway / 中国病理生理杂志

[ ABSTRACT] AIM:To investigate the effect of combined treatment with gonadotropin-releasing hormone analogue ( GnRHa) and growth hormone ( GH) on the linear growth in mid-and late pubertal girls at great bone ages with central precocious puberty ( CPP) or early and fast puberty ( EFP) , and to determine the relation between C-type natriuretic pep-tide ( CNP) signaling pathway and the accelerative effect of GH on long bone growth in these girls.METHODS:Twenty-two girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 years with impaired predicted adult height ( PAH) , and divided into GnRHa treatment group ( treated with GnRHa alone, slow-release of triptorelin 60~80 μg/kg every 4 weeks, im) and combined treatment group ( treated with GnRHa and GH, 1 U/kg GH every week for 6~7 times, sc) .The height, weight and pubertal stage were determined every 3 months.At the beginning and after 6 months of the treatment, the bone age was evaluated and the serum concentrations of amino-terminal pro-C-type natriuretic peptide ( NT-proCNP), insulin-like growth factor 1 (IGF-1) and procollagen type 1 amino-terminal propeptide (P1NP) were measured. Height velocity ( HV) , height SD score for bone age ( HtSDSBA ) , PAH and the serum indexes mentioned above were com-pared at the beginning and the end of the treatment.RESULTS: After 6 months of the treatment, HV, ΔHtSDSBA andΔPAH of the girls treated with GnRHa +GH were statistically higher than those of the girls given GnRHa alone ( P <0.01).Serum concentrations of NTproCNP, P1NP and IGF-1 were not significantly different between the beginning and the end of the 6-month combined treatment.The girls treated with GnRHa alone showed a significant decrease in both serum NTproCNP and P1NP levels (P<0.05) and no significant change of serum IGF-1 level after 6 months of the treatment. CONCLUSION:In the CPP or EFP girls who are in mid-and late puberty and at great bone ages, the combined treatment with GnRHa and GH may accelerate linear growth and improve predicted adult height.This effect of GH is not attributed to the change of serum IGF-1 level, and may be related in part to the acceleration of CNP-mediated long bone growth.

Study on the Scientific Research and its Corresponding Strategy for 34 third-grade class A hospitals of Fujian Province between the year 2001 and 2010 / 中华医学科研管理杂志

Third-grade class A hospitals undertake three tasks-medical service,scientific research and teaching.scientific research is the motivation for third-grade class A hospitals' continuous development and also an important symbol of their medical and academic level.On the purpose of evaluating overall scientific level of such hospitals this thesis analyze the scientific projects and the outcomes of 34 hospitals by using the method of literature research and questionnaire,extracting advantages for scientific research,seeking their problems and coming up with corresponding strategy.have analyzed the achievements we acquired as well as the problems still existing.According to the reality of Fujian Province,some suggestions are coming up with so as to improve the scientific research.

Final adult height of girls with central precocious puberty or early and fast puberty could be improved by treatment of gonadotropin-releasing hormone analogs / 中华内分泌代谢杂志

Objective To assess the efficacy and impact factors of treatment with Gonadotropin-releasing hormone analogs (GnRHa) in central precocious puberty (CPP) or early and fast puberty (EFP) girls in a retrospective unicenter study.Methods One hundred and two girls (75 CPP and 27 EFP) were treated with GnRHa alone and were followed up to their final adult hight (FAH).Results FAH was (158.0 ± 4.8) cm,being significantly higher than pretreatment predicted adult height [(151.1 ±5.1) cm,P＜0.01].There was no significant difference between CPP [(7.3 ± 4.4) cm] and EFP [(5.5 ± 4.5) cm] in net height gain.There was no significant improvement in FAH and pretreatment PAH for the patients who had menarche before treatment or whose growth velocity was less than 4 cm during the first year.Conclusion GnRHa treatment improves FAH efficiently for both CPP and EFP girls.Nevertheless,those who had menarche before treatment or whose growth velocity was less than 4 cm during the first year can hardly improve FAH by GnRHa treatment alone.

Prevalence and characterization of testicular adrenal rest tumors in children and adolescent males with congenital adrenal hyperplasia / 中华内分泌代谢杂志

Objective To summarize the prevalence,risk factors,and characteristics of testicular adrenal rest tumors(TART) in children and adolescent males with congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21-OHD).Methods During past 4 years,there were 44 males with CAH caused by 21-OHD undergone testicular ultrasound scan in our clinic.We have diagnosed 13 cases of TART and summarized the characterizations.Results The prevalence of TART in our group was 29.5％ with 11 cases of salt wasters and 2 cases of simple virilizers.The median age of TART diagnosis was 10.2 years.The median follow-up period of TART was 3.0 years.History of poor control of CAH was found in every case before diagnosis of TART.The doses of hydrocortisone were increased in 5 cases of TART who refused operations or had small TART,resulting in tumor regression in two of those five patients.Testis-sparing surgeries were performed in 8 patients with symptoms relieved; 7 of those eight patients presented elevated FSH and LH after operations.Conclusions Prevalence of TART in our CAH children and adolescent males was 29.5％.Testicular ultrasound was useful in TART screening.TART should be considered when a CAH patient with poor control,especially in post-pubertal one.Delayed management of TART may lead to impaired testicular function.Increased doses of glucocorticoid may be effective in TART of small size.Testis-sparing surgery should be also considered if necessary.

Final height outcome of boys with idiopathic central precocious puberty treated with gonadotropin-releasing hormone analogue / 中华内分泌代谢杂志

Objective To observe the final adult height of 20 boys with idiopathic central precocious puberty (ICPP) treated with slow-releasing gonadotropin-releasing hormone analogue(GnRHa).Methods Twenty boys with ICPP were treated with GnRHa for( 20.0 ± 6.1 ) months.At the beginning of therapy,mean chronological age and bone age was( 11.4 ± 1.0 ) years and ( 13.0 ± 0.4 ) years,respectively,GnRHa was discontinued when the boys reached the chronological age and bone age of( 13.2 ± 1.1 ) years and ( 13.7 ± 0.6 ) years,respectively.After the end of treatment,all the boys had been followed up for( 3.3 ± 1.5 ) years and had achieved adult height.Comparisons were made among their predicted adult height ( PAH ),final adult height ( FAH ),and target height ( THt ).The long-term outcome of final adult height in boys with ICPP was investigated after GnRHa treatment.Results All the boys reached target height range.Final height was similar to the target height [ ( 169.8 ± 5.8 vs 167.8 ± 4.6 ) cm,P＞0.05 ].The height gain,defined as the difference between predicted adult height at the start of treatment using the height SDS for bone age and actual adult height was( 3.62 ± 3.57 ) cm with the residual growth capacity of ( 11.82 ±3.99)cm,PAH significantly improved after GnRHa treatment compared with before treatment [ ( 169.0 ± 5.0 vs166.2 ± 4.2 ) cm,P＜0.01 ].There were no differences among PAH,FAH,and THt.Conclusion GnRHa treatment improves final height within the range of target height in boys with central precocious puberty.