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OBJECTIVE@#To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty.@*METHODS@#A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People's Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiple ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized.@*RESULTS@#The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46,X,i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (< P3), with 6 ~ 8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms.@*CONCLUSION@#The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.
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Humans , Female , Adolescent , Puberty , Turner Syndrome/genetics , Chromosomes, Human, X , KaryotypingABSTRACT
【Objective】 To analyze the dynamics of specific SARS-CoV-2 IgG antibodies in blood donors in Fuzhou area after receiving booster doses of inactivated COVID-19 vaccine and breakthrough infections, and to provide evidence for the timing of the collection of specific immune plasma or convalescent plasma and the subsequent vaccine doses. 【Methods】 A total of 109 volunteers who received the first booster dose of inactivated COVID-19 vaccine and 102 volunteers who experienced breakthrough infections were recruited at Fujian Blood Center from October to November 2021. Blood samples were collected at eight time points: 14 (11, 20) days before the booster dose (Time0), 14 (10, 23) days after the booster dose (Time1), 53 (45.5, 61) days after the booster dose (Time2), 88 (78, 101.5) days after the booster dose (Time3), 124 (112.5, 138.5) days after the booster dose (Time4), 158 (146, 174) days after the booster dose (Time5), 194 (179.5, 214) days after the booster dose (Time6) and within one month after the breakthrough infection (Time7). Serum SARS-CoV-2 IgG antibodies were detected using a chemiluminescence immunoassay. The dynamics of antibody levels were analyzed and the effects of age, gender, weight, BMI, blood type and smoking on antibody levels were also analyzed. 【Results】 The positive rate of SARS-CoV-2 IgG antibodies was 53.2% (58/109) at Time0, 100% (109/109) at Time1, and 95.4% (104/109) at Time6. The antibody levels were significantly higher at Time1 and Time6 than at Time0 (P0.05). The IgG antibody level at Time7 was 2.07 times than that at Time1 (P0.05). The IgG antibody level in breakthrough infection group was significantly higher than that in non-breakthrough infection group (P<0.001). 【Conclusion】 Booster doses of inactivated COVID-19 vaccine and breakthrough infections can stimulate stronger immune responses in the body. It is recommended to collect specific immune plasma or convalescent plasma within one month after breakthrough infections or booster doses of COVID-19 vaccine for special purposes. The timing of subsequent vaccine doses should be based on the dynamics of antibody levels. It is necessary to continuously monitor antibody levels to provide evidence for subsequent vaccine doses.
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Objective:To analyze the clinical features of a kindred of X-linked adrenoleukodystrophy(X-ALD) with the onset of primary adrenocortical insufficiency, and to detect the mutation of ATP-binding cassette, sub-family D, member l(ABCD1) gene.Methods:A Chinese X-ALD kindred with two affected males from two-generations was studied. The clinical data of the proband′s family members were collected. The sequences of ABCD1 of the proband, his parent and young brother were detected by next-generation sequencing. X-ALD was diagnosed according to clinical manifestations, cranial MRI image, and serum level of very long chain fatty acid(VLCFA).Results:The two cases were all males. The proband was characteristic of primary adrenocortical insufficiency and neurological dysfunction, with extensive cerebral white matter demyelination and high serum VLCFA level. At the age of 2 years and 10 months, the younger brother of the proband presented with primary adrenocortical dysfunction, without neurological symptoms. Gene sequencing results of two patients showed a novel missense substitution(c.1666C>T) in exon 7 of ABCD1 inherited from their mother.Conclusion:The new mutation of ABCDl gene c. 1666C>T may lead to adrenoleukodystrophy. Primary adrenocortical insufficiency and neurological dysfunction are the typical manifestations of X-ALD.
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Objective:To analyze the expression levels of miR-15 and miR-29a in serum of patients with diabetic retinopathy (DR) and their diagnostic values for DR.Methods:155 patients (155 eyes) with type 2 diabetes mellitus (DM) were treated in our hospital from June 2016 to August 2018, according to the occurrence of retinopathy and the degree of retinopathy, the patients were divided into five groups: 50 cases of non-retinopathy group (NDR group), 56 cases of simple retinopathy group (SDR group), 49 cases of proliferative retinopathy group (PDR group) and another 50 healthy persons in the same period were selected as the control group. Triglyceride (TG), total cholesterol (TC), and fasting blood glucose (FPG) were measured. Levels of serum miR-15 and miR-29a were detected by quantitative reverse transcription polymerase chain reaction (qRT-PCR). Pearson correlation method was used to analyze the relationships between levels of serum miR-15 and miR-29a with clinical indicators in DR patients. Receiver operating characteristic curve (ROC) was used to evaluate the diagnostic values of miR-15 and miR-29a in DR.Results:The relative expression of miR-15 in serum of NDR group, SDR group, and PDR group were lower than that of control group ( P<0.05), and the relative expression of miR-15 in NDR group, SDR group, and PDR group decreased gradually ( P<0.05); the relative expression of miR-29a in serum of NDR group, SDR group, and PDR group were higher than that of control group ( P<0.05), and the mRNA relative expression of miR-29a in NDR group, SDR group, and PDR group increased gradually ( P<0.05); the expression of serum miR-15 in DR patients was negatively correlated with urinary albumin/creatinine (UACR), glycosylated hemoglobin (HbA1c) and the course of DM ( r=-0.732, -0.492, -0.589, P<0.05); the expression level of miR-29a was positively correlated with UACR, HbA1c and the course of DM ( r=0.744, 0.508, 0.556, P<0.05); the areas under the ROC curve (AUC) of miR-15 and miR-29a for DR diagnosis were 0.796 (95% CI: 0.724-0.857) and 0.677 (95% CI: 0.597-0.749), with diagnostic thresholds 0.63 and 1.11, sensitivities 84.9% and 53.8%, specificities 65.3% and 79.6%, repectively; miR-29a was a risk factor for DR, while miR-15 was a protective factor for DR. Conclusions:The expression of mir-15 and miR-29a in the serum of DR patients is decreased, which is related to the degree of retinopathy and can be used as biomarkers for early diagnosis of DR.
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Forty-three children with congenital hypothyroidism(CH)underwent 99mTc thyroid scintigraphy, after being followed up by receiving levothyroxine till 2 to 3 years of age. The results showed that thyroid agenesia happened in 37 cases( 86.05% ) while entopic gland in 6 cases (13.95% ). Thyroid scintigraphy with 99mTc is an informative procedure in determining etiology and treatment schedules for children with CH.
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Objective To summarize the experience of intraoperative care for the patients undergoing microsurgery via retrosigmoid keyhole approach, so as to improve the treatment effect and minimize complications. Method The clinical records on the intraoperative care of 100 patients undergoing microsurgery via retrosigmoid keyhole approach were retrospectively analyzed. Result Using the keyhole technique and small incision, the cerebellopontine angle lesions were exposed clearly. Moreover, the proper intraoperational cooperation shortened the duration of operation, reduced bleeding and minimized postoperative complications such as cerebrospinal fluid otorrhea, intracranial infection, intracranial hemorrhage, and subcutaneous hydrops. Conclusion Proper operational postures and intraoperative cooperation can make full use of the limited space of the microsurgery via retrosigmoid keyhole approach and ensure the success of the operation.
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Objective To evaluate the application value of combined detection of PCA3 and PSA mRNA in peripheral blood of patients with prostate cancer(PCa) for evaluation of mien)metastasis. Methods PCA3 and PSA mRNA were detected by duplex real time quantitative RT-PCR in a total of 49 PCa and 71 benign protatic hyperplasia (BPH) patients' peripheral blood. The diagnostic value was analyzed by receiver operative characteristic(ROC) curve. Results The levels of PCA3 mRNA in PCa patients were significantly higher than those in BPH patients [2 362( <30-7 421 ) copies/ml vs <30 copies/M, Z = -6. 66, P < 0. 01 ], and the same to PSA mRNA [3 425 ( 908-36 639 ) copies/ml vs < 200 copies/ml, Z = - 6. 40, P<0. 01 ]. The positive rate of PCA3 and PSA mRNA in peripheral blood was positively correlated with clinical stage[clinical stage B: 30.0% (3/10), C: 60.0% (9/15) and 86.7% (13/15), D: 91.7% (22/24) and 91.7% (22/24) ,Chi-square = 13. 534 and 16. 541, P <0. 01, respectively]. Meanwhile, the positive rate of PCA3 mRNA and PSA mRNA was also increased with the increase of Gleason score[ Gleason score of 2 to 4 : 20.0% (1/5) and 40. 0% (2/5) ;5 to 7 : 66.7% (12/18) and 72. 2% ( 13/18 ) ;8 to 10 : 84. 6% (22/26) and 92.3% ( 24/26 ) ;Chi-square = 8. 895 and 8. 015, P < 0. 05, respectively ]. ROC analysis showed that the sensitivities for PCA3 and PSA mRNA were 69. 4% (34/49) and 81.7% (40/49) and the specificities was 90. 1% (64/71) and 77.5% (55/71), respectively, when the cut-off value was 846 copies/ml for PCA3 mRNA and 280 copies/ml for PSA mRNA. Meanwhile, the sensitivity can reach to 85.7% (42/49) when the detection of PCA3 and PSA mRNA were combined. However, the specificity was decreased to 76. 1% (54/71). For the diagnosis of PCa micrometastasis, the sensitivity and specificity for PCA3 mRNA was 90.9% (20/22) and 84.7% (11/13), respectively. Conclusions PCA3 and PSA mRNA in peripheral blood are useful markers for PCa diagnosis. Simultaneous detection for PCA3 and PSA mRNA is more helpful for PCa diagnosis. Meanwhile, detection of PCA3 mRNA is a useful marker for diagnosing PCa micrometastasis.
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OBJECTIVE To investigate the profile of pathogen of infection in kidney disease patients. METHODS Pathogen of infection in kidney disease patients in our hospital from Jan 2004 to Feb 2006 was retrospectively investigated. RESULTS A total of 240 pathogen strains were isolated from 223 cases.Of the 240 isolated strains the rate of strains of Gram-negative bacilli was 55.4%,that of the Gram-positive cocci was 26.3%,the rate of fungi was 10.0% and that of the Gram-positive bacilli was 8.3%.The positive rate of Escherichia coli was the highest followed by Haemophilus influenzae.54.2% Of isolates were from urine,21.3% from sputum.The isolated pathogens resisted at different degrees to antibiotics which were used frequently in clinic.The rate of polyinfection was not high. CONCLUSIONS Pathogen of infection in kidney disease patients is mainly Enterobacteriaceae.The isolates mainly are E.coli which is multi-resistant.It mainly causes the urinary infections.
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OBJECTIVE To study the relativity among PreS1-Antigen,HBV markers and HBV-DNA. METHODS The HBV markers,PreS1-antigen and HBV-DNA were determined by ELISA and PCR in 102 patients with chronic hepatitis B and 73 healthy persons. RESULTS Among 102 patients with chronic hepatitis B,the concordance rate of PreS1-antigen and HBeAg with HBV-DNA was 70.6% and 75.5%.The sensitivity of PreS1 was better than HBeAg but the specificity was contrary.It represented some patients with HBeAg(-) still had viral replication.On the increase in the level of HBV-DNA,the positive rates of PreS1-antigen and HBV markers increased. CONCLUSIONS The detection of PreS1-antigen can well reflect the HBV replication.The synchronous dynamic detection of PreS1-Antigen,HBV markers and HBV-DNA has its important clinical meaning.