The Banna miniature pig (BNMP) is a representative miniature pig breed in China. Even though BNMP dwarfism is obvious, its underlying causative mutations remain unknown. In this study, the BNMP and Large White pig (LWP) serum growth hormone (GH) and insulin-like growth factor (IGF-1) levels were detected by ELISA and compared. BNMP serum IGF-1 levels were significantly lower than LWP levels (P B0.05). The miniature condition may arise from mutations in the GH and GH receptor (GHR) genes. Therefore, GH and GHR cDNA from the BNMP were cloned into a pMD18-T vector by RT-PCR using the total RNA obtained from the BNMP's pituitary and liver tissues. Sequencing results indicated that the open reading frame of the BNMP GH gene is composed of a 26-residue signal peptide and a 191-residue mature peptide. The coding sequence of the BNMP GHR gene contained 639 amino acids, including a signal peptide that is 18 amino acids long. Two amino acid substitutions, A09V and R22Q, were found in the signal peptide of the GH gene. Additionally, the S104P mutation was found in the BNMP's mature GH protein. Four mutations in the cytoplasmic domain of GHR may influence the downstream signal transduction of GHR, which needs further experimental evidence.
BackgroundChronic thromboembolic pulmonary hypertension (CTEPH) is a rare and life-threatening condition with a poor prognosis in antiphospholipid syndrome (APS) patients. A specialised and multidisciplinary evaluation are needed for APS associated CTEPH. As a curative option for CTEPH, pulmonary thromboendarterectomy (PTE) requires careful risk and benefit assessment in APS patients.ObjectivesThis retrospective cohort study aimed to investigate the clinical manifestations and prognosis of CTEPH in APS patients with or without PTE.MethodsConsecutive patients with APS associated CTEPH diagnosed between January 2012 to September 2017 at Peking Union Medical College Hospital were retrospectively evaluated. Patients were divided into two groups by whether underwent PTE or not. Demographics, clinical manifestations, antiphospholipid antibodies profiles, target medications, treatment were collected as possible influencing factors. Chi-square test was used to analyse the short-term prognosis while Kaplan Meier curve and log rank test were used to analyse long-term prognosis (outcome events: deterioration of cardiac function or death).Abstract OP0355 – Table 1Baseline demographic and clinical characteristics of 20 APS associated CTEPH patientsVariablesTotal(n=20)With PTE(n=8)Without PTE(n=12)P-value Female, n(%)13 (65.0)4 (50.0)9 (75.0)0.27Median age, yrs29(19–5128(22–3234(19–510.09APS median duration, months36(1–252)48(1–7632(1–1520.49APL profilesACL, n(%)Anti-ß2GP1, n(%)LA, n(%) 14 (70.0)17 (85.0)16 (80.0) 6 (75)7 (87.5)8 (100) 8 (66.7)10 (83.3)8 (66.7) 1.001.000.12DiagnosisPrimary APS, n(%)SLE-APS, n(%) 8 (40.0)12 (60.0) 6 (75.0)2 (25.0) 2 (16.7)10 (83.3)0.02CTEPH Median duration, n(months)18(1–14448(1–767 (1–144)0.89ManifestationsChest pain, n(%)DOE, n(%)Cough, n(%)Hemoptysis, n(%) 5 (25)20(100)4 (20)7 (35) 2 (25.0)8 (100.0)02 (25.0) 4 (33.3)12(100)4 (33.3)5 (41.7) 1.00-0.120.64Other Thrombotic Events, n(%)17(85)7 (87.5)10 (83.3)1.00Target therapiesPDE5iBosentan 10(504 (20) 5 (62.5)2 (25.0) 5 (41.7)2 (16.7) 0.651.00Baseline WHO FCII, n(%)III, n(%)IV, n(%) 7 (35.0)11 (55.0)2 (10.0) 3 (37.5)5 (63.5)0 4 (33.3)6 (50.0)2 (16.7)0.33Posttreatment WHO FCI, n(%)II, n(%)III, n(%) 10 (50.0)7 (35.0)3 (15.0) 7 (87.5)1 (12.5)0 3 (25.0)6 (50.0)3 (25.0)0.01ResultsA total of the 20 APS associated CTEPH patients were enrolled, 8 underwent PTE and 12 without PTE. Common CTEPH developed by these patients included chest pain, dyspnea on exertion, cough and hemoptysis. Chi-square test (p=0.01) and Kaplan Meier curves (Log rank test, p=0.04) showed that there was statistically significant difference in both short-term and long-term prognosis among patients with PTE and without PTE. On the other hand, Cox regression analysis showed diagnosis (PAPS or SLE-APS), aPL (antiphospholipid antibody) profiles, thrombocytopenia, other Thrombotic Events, target therapies, baseline WHO FC have no effects on the prognosis of CTEPH in patients with APS.Abstract OP0355 – Figure 1 Kaplan-Meier survival curves of APS patients associated CTEPH after treatment...
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