Inherited adrenal hypoplasia: not just for kids!
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Adrenal Insufficiency↗
Biomedical subjects
Lin Lin
Publications and source records attributed to Lin Lin.
The adrenal.
During the past 15 years, considerable progress has been made in our understanding of the genetic basis of adrenal development and function. More than 30 single gene disorders have now been identified that can affect the hypothalamic-pituitary-adrenal axis in humans (fig. 1, 2; table 1). This review highlights recent advances in the molecular pathology of: (1) adrenal hypoplasia, (2) adrenal destruction, (3) disorders of adrenal steroidogenesis, (4) adrenal steroid resistance and (5) activation of the adrenal axis/tumorigenesis. Characterizing the molecular basis and natural history of these conditions is providing fascinating insight into adrenal development and function and can help to focus treatment and counselling of patients appropriately. However, ongoing translation of research findings into clinical practice is needed if patient care is to be influenced significantly.
Addison Disease↗
[A randomized controlled Multi-center clinical trial on mosapride in the treatment of functional dyspepsia].
OBJECTIVE: To evaluate the effectiveness and safety of mosapride on treatment of functional dyspepsia. METHODS: Randomized controlled clinical trial was conducted and patients suffered from functional dyspepsia were included. 5 mg mosapride was given three times daily for 4 weeks in the treatment group. 10 mg domperidone was given three times daily for 4 weeks as control. Changes on symptom score, gastric empty or new occurring events were included as outcomes. RESULTS: 231 patients suffered from functional dyspepsia were selected by inclusion and exclusion criteria from August 15 to Oct 22, 1999. Of these, 108 (46.8%) were males, versus 123 (53.2%) females and 118 (51.2%) in the treatment group and 113 (48.9%) as controls. 222 (96.1%) patients were followed up. Results showed that the total efficacy rates in early satiety and abdominal distension were 84.5% and 90.1% in mosapride after the 2 weeks of treatment. Mosapride seemed to be more effective in improving symptoms of belching and heartburn than that in controls (P < 0.05). In 4 weeks, the total efficacy in improving symptoms of abdominal distention and belching showed more effective in mosapride than that in controls (P < 0.05). Decrease of symptoms score was more in mosapride than that in controls (P < 0.05). Mosapride was less effective in controls in improving the gastric empty in terms of proportion (46.2% vs. 25.9%, P = 0.020) and range (46.2% vs. 24.0%, P = 0.003). Side effects would include diarrhea, constipation, headache, dizziness, insomnia, skin scare and the like. There was no significant difference between the two groups (9.6% in mosapride vs. 14.0% in controls). CONCLUSION: Mosapride was safe and effective in improving the symptoms and gastric empty of functional dyspepsia.
Adult↗
[Rescue operations of the recurrent nasal and paranasal sinus neoplasms].
OBJECTIVE: To investigate the symptoms, factors relating to recurrences, the styles of the rescue operation and the reconstructive methods of the surgical defects in patients with recurrent nasal and paranasal sinus neoplasms. METHODS: Excluding the primary neoplasm, only patients with recurrent tumors and suitable for rescue operations entered the group. Kaplan-Meier method was used to estimate the survival probability. RESULTS: Twenty-five patients receiving rescue operations from 1993 to 2002 who met the above inclusion criteria were reviewed. The age ranged from 13 - 66 years. All the patients had once surgery or radiation therapy at least. The time between the last treatments and the recurrences ranged from 2 weeks to 46 months. 80 per cent of the recurrences were within the first 2 years after the last therapy. The recurrent symptoms included headache (10 patients), eminences in or around the operation fields (9 patients), diminution of vision (7 patients), and so on. The patients were followed 1 to 65 months. There were no patients died during the rescue operations. Five patients were alive without recurrences and 3 alive with local or regional recurrences. Thirteen died of local recurrences and 1 died of metastasis to lung. The one-year, 2-year and 3-year survival rate were 62.5%, 43.7% and 29.1%, respectively. The median survival time was 18 months. Complications included cerebrospinal rhinorrhea (3 patients), central diabetes insipidus (1 patient) and necrosis of part of the flap (1 patient). CONCLUSIONS: Most of the local recurrences occur within 2 years after the last therapies. The recurrent symptoms are commonly headache and eminences in or around the operation fields. The recurrences are closely related to pathological types and differential degrees of the neoplasms. The reasonable and timely combined treatment may help to decrease the frequencies of the recurrences. The rescue operations with effective methods can improved the patients' life qualities and lengthen their life spans. The main complications are cerebrospinal rhinorrhea most of which can be cured by conservative treatment.
Adolescent↗
[Expression of survivin gene and its relationship with expression of p15, p16 proteins in laryngeal squamous cell carcinomas].
OBJECTIVE: : To investigate the expression of Survivin (SVV) and its relationship with expression of p15, p16 in laryngeal squamous cell carcinoma (LSCC). METHODS: Using strep avidin-biotin complex (SABC) method, we examined the expression of SVV, p15 and p16 gene in 48 LSCC tissus samples, 24 normal laryngeal mucosa tissus samples and 24 normal laryngeal tissus adjacent to the tumors samples. RESULTS: SVV was expression in 27 of 48 (56.3%) samples of LSCC and expression in 6 of 24 (25.0%) samples of normal laryngeal tissus adjacent to the tumors. Normal laryngeal mocosa tissus samples did not expressed SVV. Overexpression of SVV was related to the tumor site, grade, clinical stage and tumor prognosis (P < 0.05). The expression of SVV in LSCC was positive correlated with p16 expression( C = 0.52 P < 0.001), but not with p15 expression. CONCLUSION: SVV may play a role in the pathway of carcinogenesis and tumor progress. It is feasible for early diagnosis and prognosis estimation. Overexpression of SVV gene and de-activation of antioncogene p16 may be play synergetic roles in the carcinogenesis of LSCC.
Adult↗
Gene amplification in esophageal adenocarcinomas and Barrett's with high-grade dysplasia.
PURPOSE: The purpose of this study was to determine the frequency and overall contribution of specific gene amplification events in the formation of Barrett's adenocarcinomas. The relationship of gene amplification to clinical-pathological variables and its potential usefulness as a marker for early cancer detection were also examined. EXPERIMENTAL DESIGN: We used quantitative PCR and Southern blot analysis to screen 87 cases of Barrett's adenocarcinoma for the presence or absence of 13 distinct gene amplification events. Gene amplification was then examined for correlation with other amplification events and clinical variables (survival, stage, nodal involvement, tumor invasion, smoking history, and gender). Additionally, 22 specimens of Barrett's with high-grade dysplasia (HGD) were examined for the presence of gene amplification. RESULTS: One or more amplification events were present in 50 of 87 (57%) adenocarcinomas. The ERBB2 gene was amplified in 19 of 87 (21.8%), CCNE1 in 11 of 87 (12.6%), GATA4 in 9 of 87 (10.3%), KRAS in 9 of 87 (10.3%), EGFR in 7 of 87 (8.0%), CCND1 in 6 of 87 (6.8%), HNF3alpha in 5 of 87 (5.7%), PIK3CA in 5 of 87 (5.7%), C-MYC in 4 of 87 (4.6%), DYRK2 in 2 of 87 (2.3%), and AIB1, AKT1, and IGF1R were amplified in 0 of 87 (0%) of the tumors. CCND1 amplification was found to correlate negatively with survival (P < 0.05). In addition, the ERBB2 amplicon positively correlated (P < 0.05) with GATA4 amplification. Increased copy number of the ERBB2 (1 of 22), GATA4 (1 of 22), KRAS (2 of 22), C-MYC (1 of 22), CCNE1 (2 of 22), and CCND1 (2 of 22) genes was also observed in one or more Barrett's adenocarcinomas with HGD. CONCLUSIONS: The high frequency of gene amplification in esophageal adenocarcinomas and HGD indicates the important role of these events in esophageal adenocarcinoma development. Additionally, these results underscore the possible usefulness of early detection approaches and chemotherapeutic strategies (ErbB2 and cyclin D1) targeted against amplified gene products.
Adenocarcinoma↗
Amplification and overexpression of the dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2) gene in esophageal and lung adenocarcinomas.
Genomic amplification can lead to the activation of cellular proto-oncogenes during tumorigenesis, and is observed in most, if not all, human malignancies, including adenocarcinomas of lung and esophagus. Using a two-dimensional restriction landmark genomic scanning technique, we identified five NotI/HinfI fragments with increased genomic dosage in an adenocarcinoma of the gastroesophageal junction. Four of these amplified fragments were matched within three contigs of chromosome 12 using the bioinformatics tool, Virtual Genome Scan. All three of the contigs map to the 12q13-q14 region, and the regional amplification in the tumor was verified using comparative genomic hybridization analysis. The 12q14 amplicon was characterized using sequence tagged site-amplification mapping with DNA from paired normal-tumor tissues of 75 gastroesophageal and 37 lung adenocarcinomas. The amplicon spans a region of >12 Mb between genes DGKA and BLOV1. The core-amplified domain was determined to be <0.5 Mb between marker WI-12457 and gene IFNG. However, MDM2, a well-documented oncogene of the region, is outside the core-domain. Eleven genes and expressed sequence tags within the amplicon were selected for quantitative reverse transcription-PCR, and DYRK2, a member of the dual-specificity kinase family, was overexpressed in all of the tumors showing gene amplification. Among the sequence tagged site/expressed sequence tag/gene markers tested, DYRK2 demonstrated the highest DNA copy number and the highest level of mRNA overexpression in the tumors. Moreover, DYRK2 mRNA overexpression (>2.5-fold of normal mean) was found in 18.6% of additional 86 lung adenocarcinomas in an assay using oligonucleotide microarrays. DYRK2 mRNA overexpression occurs more frequently than gene amplification in both esophageal and lung adenocarcinomas. This is the first report of amplification and overexpression of DYRK2 in any tumor type.
Adenocarcinoma↗
Amplification and overexpression of the L-MYC proto-oncogene in ovarian carcinomas.
Gene amplification is an important mechanism of oncogene activation in various human cancers, including ovarian carcinomas (OvCas). We used restriction landmark genomic scanning (RLGS) to detect amplified DNA fragments in the genomes of 47 primary OvCas. Visual analysis of the RLGS gel images revealed several OvCa samples with spots of greater intensity than corresponding spots from normal tissues, indicating possible DNA amplification in specific tumors. Two primary tumors (E1 and S12) shared four high-intensity spots. A recently developed informatics tool termed Virtual Genome Scans was used to compare the RLGS patterns in these tumors with patterns predicted from the human genome sequence. Virtual Genome Scans determined that three of the four fragments localized to chromosome 1p34-35, a region containing the proto-oncogene L-MYC. Sixty-eight primary OvCas, including 40 analyzed by RLGS, were screened by quantitative polymerase chain reaction (PCR) for possible amplification of L-MYC. Ten tumors with increased L-MYC copy number were identified, including tumor E1, which showed an approximately 24-fold increase in copy number compared to normal DNA. Southern analysis of several tumors confirmed the quantitative PCR results. Using sequence tagged site (STS) markers flanking L-MYC, increased DNA copy number in tumor E1 was found to span the region flanking L-MYC between D1S432 and D1S463 ( approximately 3.1 Mb). Other tumors showed amplification only at the L-MYC locus. Using oligonucleotide microarrays, L-MYC was found to be more frequently overexpressed in OvCas than either c-MYC or N-MYC relative to ovarian surface epithelium. Quantitative reverse transcriptase-PCR analysis confirmed elevated L-MYC expression in a substantial fraction of OvCas, including nine of nine tumors with increased L-MYC copy number. The data implicate L-MYC gene amplification and/or overexpression in human OvCa pathogenesis.
Base Sequence↗
Epithelioid sarcoma: an immunohistochemical analysis evaluating the utility of cytokeratin 5/6 in distinguishing superficial epithelioid sarcoma from spindled squamous cell carcinoma.
BACKGROUND: Epithelioid sarcoma (ES) is a rare, aggressive soft tissue tumor characterized by nodular aggregates of epithelioid and/or spindled cells that are immunoreactive to cytokeratins (CKs) and epithelial membrane antigen. ES that arises in the dermis may cause epidermal ulceration and can resemble, clinically, morphologically and immunohistochemically, cutaneous squamous cell carcinoma. CK 5/6 has recently been found to be an excellent marker of squamous cell carcinoma, including spindled variants, but it is not known if this marker can be utilized to distinguish superficial ES from cutaneous spindled squamous cell carcinoma (SSCC). METHODS: Twenty-four cases of ES with typical histologic features and 10 cases of SSCC with ultrastructural evidence of epithelial differentiation were studied. Immunohistochemical analysis using an antibody to CK 5/6 was performed. The extent of immunoreactivity was evaluated in a semiquantitative manner using the following scale: 0, < 5% of cells staining; 1+, 6-25% of cells staining; 2+, 26-50% of cells staining; 3+, 51-75% of cells staining; 4+, > 75% of cells staining. RESULTS: CK 5/6 was expressed in all 10 cases of SSCC, including one case with 3+ staining and six cases with 4+ staining. In contrast, CK 5/6 staining was found only in rare tumor cells (1+ staining) in one of 24 (4%) cases of ES. CONCLUSIONS: CK 5/6 staining is useful in distinguishing superficial ES from cutaneous SSCC.
Biomarkers, Tumor↗
A retrospective study on clinical features of and treatment methods for 77 severe cases of SARS.
In this retrospective study, clinical data including clinical manifestations, routine blood tests, chest radiographic imaging from 77 severe cases of SARS treated with integrated Chinese and Western medicine were collected and statistically analyzed. Twenty-nine (37.6%) patients were admitted to the intensive care unit, non-invasive ventilation was used in 40 (51.9%) cases, and invasive ventilatory procedure was performed in eight (10.3%) cases. Seventy (90.9%) patients were clinically cured and seven (9.0%) died. The duration of defervescence was 8.3 +/- 5.0 days after admission. In the early stage, normal leucocyte count was seen in 46 (75.4%) of the 61 patients tested, decreased leucocyte count in 13 (21.3%) and elevated leucocyte count in only two (3.2%) cases. A decreased lymphocyte count was also seen in 23 (37.7%) cases of the 61 patients tested on admission, and by day 14, the number of patients with decreased lymphocyte count (1.11 +/- 0.66 x 10(9)) increased to 32 (47.7%) in 67 cases examined. Neutral granulocyte count was normal or decreased in 58 (95.0%) patients on admission, but elevated from the 7th day onward and peaked on day 21 in 32 (65.3%) of the 49 cases tested. All of the blood abnormalities returned to normal in the convalescent stage. Twenty-nine (37.6%) of the 77 severe cases of SARS patients demonstrated an extensive lung involvement. In comparison with the non-severe SARS cases, this group of patients showed significantly more pneumonic air-space opacities and ground glass-like changes on the chest radiographs (p < 0.05, chi2 test). The role Chinese medicine played in the treatment of SARS was discussed.
Adrenal Cortex Hormones↗
[Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans].
OBJECTIVE: To investigate the predisposing role of HLA-DRB1, DQB1 genes in pemphigus vulgaris (PV). METHODS: Polymerase chain reaction-specific sequence primers method was used to type HLA-DRB1, DQB1 subregion in the patients with PV of Han nationality from Jiangsu and Anhui provinces and matched control subjects. RESULTS: DR4, DRB1*14(*1401,*1404,*1405) gene frequencies in PV patients were significantly higher than those in controls (Pc<0.05 and Pc<0.01 respectively). DQB1*0302, DQB1*0503 gene frequencies were significantly higher in PV patients (Pc<0.05). Further typing of DR4 positive subjects revealed that the gene frequencies of DRB1*0406, *0403 were significantly increased in PV patients as compared with controls (Pc<0.05). The haplotype frequencies of HLA-DRB1*04, DQB1*0302 and HLA-DRB1*14, DQB1*0503 in PV patients were significantly higher than those in controls (P<0.05). CONCLUSION: The results suggest that the combination of HLA-DRB1*4, DQB1*0302 and HLA-DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans.
Adult↗
TARC and MDC are produced by CD40 activated human B cells and are elevated in the sera of infantile atopic dermatitis patients.
We report here that human B cells produce thymus and activation-regulated chemokine (TARC/CCL17) and macrophage derived chemokine (MDC/CCL22) if stimulated with anti-CD40 and IL-4. The production was determined by both protein and mRNA level using specific ELISA and semi-quantitative RT-PCR methods. Since the ligand of the TARC and MDC is CCR4, which is specifically expressed on Th2 type T cells, the production of these CC chemokines is likely to play important roles in the T cell and B cell interaction. Consistent with this, ovalbumin (OVA) specific IgE levels, which reflect the T-B cell interaction, are significantly correlated with the amounts of TARC and MDC in sera. Furthermore, we found that TARC and MDC levels are significantly increased in the sera obtained from patients with atopic dermatitis, and that the amounts are correlated with the severity of atopic dermatitis. Since CD40 ligand and IL-4 are produced by activated T helper cells, these results indicate that TARC and MDC produced by B cells play important roles in the production of antigen specific IgE by the T-B cell interaction and in the pathogenesis of allergic disease.
B-Lymphocytes↗
[Clinical observation on 103 patients of severe acute respiratory syndrome treated by integrative traditional Chinese and Western Medicine].
OBJECTIVE: To observe the effect of 103 patients of severe acute respiratory syndrome (SARS) treated by integrative traditional Chinese and western medicine. METHODS: Alimentotherapy, respiratory auxiliaring ventilation, anti-infective and glucocorticoid methods were used in western medicine; Chinese herbal medicine was used according to syndrome differentiation in traditional Chinese medicine. Descriptive statistical analyses were performed. RESULTS: Of the 103 patients, 77 were identified as severe cases and 29 were admitted to the intensive care unit. A total of 96 patients (93.2%) were cured, 7 patients died (6.8%). The mean time between onset of feverishness and improvement was 6.72 +/- 3.95 days; 94 successful responses to therapy could be demonstrated by serial chest radiographs showing the resolution of lung opacities during 18.13 +/- 8.99 days, 2 of whom showed fibroid cord-like changes. CONCLUSION: In terms of traditional Chinese medicine theory, SARS is referred to "infectious febrile disease", the therapeutic strategies of integrative traditional Chinese and western on SARS have been shown effective, and traditional Chinese medicine played a positive role in it.
Adult↗
[Relationship between acid-base disturbance in blood gas analysis and prognosis of patients with severe acute respiratory syndrome].
OBJECTIVE: To study the influence of the acute blood gas analysis index change on the prognosis of patients with severe acute respiratory syndrome (SARS). METHODS: Artery blood gas analysis indexes were determined in 38 of 103 cases of SARS patients during acute stage, the relationship between the change of blood gas analysis index and prognosis of patients with SARS was analyzed. RESULTS: The lower partical pressure of carbon dioxide in artery (PaCO2), partical pressure of oxygen in artery (PaO2) in blood was, the higher death rate was. pH in blood had no significant influence on the prognosis of SARS patients. The prognosis of SARS patients were worse and the death rate was higher when patient had two or more acid-base disturbance. CONCLUSION: The artery blood gas analysis is useful for judging the conditions and prognosis of patients with SARS, and is beneficial for clinical treatment.
Acid-Base Imbalance↗
[Organism distribution and drug resistance in 7 cases of severe acute respiratory syndrome death patients with secondary bacteria infection].
OBJECTIVE: To study the organism distribution and drug resistance of seven cases of severe acute respiratory syndrome (SARS) death patients with secondary bacterial infection. METHODS: Thirty strains of bacteria from seven cases of SARS patients with secondary bacterial infection were classified and drug resistance was analyzed. RESULTS: Seven cases of SARS death patients were all infected secondly and 5 cases were polyinfection. Twenty-four (31.5 percent) of 76 examed samples were positive. There were 30 strains of bacteria isolated from seven cases of SARS death patients with secondary bacterial infection. There were 9 strains of Gram negative bacteria (GNB), 8 strains of Gram positive cocci (GPC), and 13 strains of Fungi. The sensitive rate of vancomycin to GPC was 100.0 percent. The sensitive rate of imipenem, piperacillin/tazobactan was 100.0 percent, 44.5 percent, respectively. The sensitive rate of fluconazole to fungi was 92.4 percent. CONCLUSION: SARS patients are consitive to be infected secondary bacteria. Secondary bacteria infection is one of important reason of death.
Adult↗
[Dynamic observation IgG and IgM antibodies in patients with severe acute respiratory syndrome].
OBJECTIVE: To observe IgG and IgM antibodies in patients with severe acute respiratory syndrome (SARS) and to explore their significance. METHODS: IgG and IgM antibodies were detected in SARS Patients in the first, recovery and follow-up stages, the front healthy doctors and nurses and healthy volunteers with indirect enzyme-linked immunoadsorbent assay. RESULTS: The positive ratio of IgG was higher than that of IgM in SARS patients during the first stage. During the recovery, follow-up stages and in the front healthy crowd, the positive ratios of IgG were all higher than those of IgM. CONCLUSION: The changeable tendency SARS antibody is more different than that of other infectious diseases. This tendency can be used as a indicator for epidemiological study and serum diagnose.
Antibodies, Viral↗
Consensus for the management of severe acute respiratory syndrome.
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Humans↗
[Crosslinking bovine pericardial bioprosthetic heart valves by phthalocyanine sensitized photooxidation reaction].
OBJECTIVE: To crosslink bovine pericardial valves by phthalocyanine sensitized photooxidation reaction. METHODS: Fresh bovine pericardial tissues were immersed in PBS solution containing 0.01% cupreous sulfonatophthalocyanine and exposed to a broad wavelength light source for 20-120 h. Using sodium dodecyl sulfate-polyarylamide gel electrophoresis (SDS-PAGE) to analyze the cross-linking extent of pericardial tissue. With the help of attenuated total reflection-fourier transform infrared (ATR-FTIR), explained the change of protein structure after photooxidation reaction. Differential scanning calorimetry (DSC) was used to measure the change of shrinkage temperature. Tissue water content experiment method was also used. RESULTS: Photooxidized tissue was resistant to extraction when it was compared with untreated tissue and had similar crosslinking extent over glutaraldehyde-treated tissue. The three dimension structure of collagen were changed but not seriously destroyed and the model of photooxidation reaction was validated. Phthalocyanine-treated tissue was much more flexible than glutaraldehyde-treated tissue. CONCLUSION: Bovine pericardial tissue can be successfully crosslinked by phthalocyanine-mediated photooxidation reaction.
Animals↗