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1.
International Eye Science ; (12): 508-514, 2024.
Article in Chinese | WPRIM | ID: wpr-1012812

ABSTRACT

AIM: To investigate the effect of inhibiting Ca2+/calmodulin-dependent protein kinase Ⅱ(CAMKⅡ)expression in adult retinal pigment epithelial cell line-19(ARPE-19)cells on the migration, invasion, and tube formation of human umbilical vein endothelial cells(HUVECs)in a non-contact co-culture system.METHODS: RNA sequencing was performed on ARPE-19 cells overexpressing CAMKⅡ-δ, and bioinformatics was used to analyze the biological functions of the differentially expressed genes. Transwell inserts was used to construct a non-contact co-culture system of ARPE-19 and HUVECs. The experimental groups included: blank group: only HUVECs were inoculated without ARPE-19 cells; control group: ARPE-19 and HUVECs cells were co-cultured with complete medium; AIP group(CAMKⅡ inhibition group): ARPE-19 cells in AIP(160 nmol/L)were co-cultured with HUVECs in complete medium. The migration, invasion and tube formation abilities of HUVECs were detected. The protein expression levels of CAMKⅡ/AMPK/mTOR/VEGFA were detected by Western blotting.RESULTS:Bioinformatics analysis found that the differentially expressed genes could affect biological processes such as cell growth and death and cell movement. The scratch test and transwell migration test showed that the relative mobility of HUVECs in the AIP group was significantly lower than that in the control group(all P<0.05). However, the invasion and tube formation assay showed that the relative invasion rate and tube formation rate of the AIP group were not significantly different from those of the control group(both P>0.05). Western blotting results showed that the expression levels of CAMKⅡ, P-mTOR, and VEGFA proteins in the AIP group were significantly lower than those in the control group, while the expression level of the P-AMPK protein was significantly higher than that in the control group(all P<0.05).CONCLUSION:In the non-contact co-culture system, inhibition of CAMKⅡ expression in ARPE-19 cells significantly reduced the migration ability of HUVECs, but it cannot change the invasion and tube formation ability, which may be achieved by AMPK/mTOR/VEGFA.

2.
Arch. endocrinol. metab. (Online) ; 65(3): 295-304, May-June 2021. tab, graf
Article in English | LILACS | ID: biblio-1285147

ABSTRACT

ABSTRACT Objective: To analyze the clinical, laboratory, and radiological findings and management of patients with clinical pituitary apoplexy and to screen for aryl hydrocarbon receptor-interacting protein (AIP) mutations. Subjects and methods: The clinical findings were collected from the medical records of consecutive sporadic pituitary adenoma patients with clinical apoplexy. Possible precipitating factors, laboratory data, magnetic resonance imaging (MRI) findings and treatment were also analyzed. Peripheral blood samples were obtained for DNA extraction from leukocytes, and the entire AIP coding region was sequenced. Results: Thirty-five patients with pituitary adenoma were included, and 23 (67%) had non-functioning pituitary adenomas. Headache was observed in 31 (89%) patients. No clear precipitating factor was identified. Hypopituitarism was observed in 14 (40%) patients. MRI from 20 patients was analyzed, and 10 (50%) maintained a hyperintense signal in MRI performed more than three weeks after pituitary apoplexy (PA). Surgery was performed in ten (28%) patients, and 25 (72%) were treated conservatively with good outcomes. No AIP mutation was found in this cohort. Conclusion: Patients with stable neuroophthalmological impairments can be treated conservatively if no significant visual loss is present. Our radiological findings suggest that hematoma absorption lasts more than that observed in other parts of the brain. Additionally, our study suggests no benefits of AIP mutation screening in sporadic patients with apoplexy.


Subject(s)
Humans , Pituitary Neoplasms/genetics , Pituitary Neoplasms/diagnostic imaging , Pituitary Apoplexy/etiology , Pituitary Apoplexy/genetics , Adenoma/genetics , Adenoma/diagnostic imaging , Referral and Consultation , Genetic Testing , Intracellular Signaling Peptides and Proteins/genetics , Mutation
3.
Medicina (B.Aires) ; Medicina (B.Aires);80(2): 181-184, abr. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1125063

ABSTRACT

La mayoría de los adenomas hipofisarios son esporádicos, pero un 3-5% puede ocurrir en un contexto familiar y hereditario. Este es el caso de la neoplasia endocrina múltiple de tipo 1 (NEM1), complejo de Carney (CNC) y adenomas hipofisarios aislados familiares (FIPA). El FIPA es una condición infrecuente, que ocurre en un contexto familiar, no asociada a NEM t ipo1 ni CNC. Los FIPA pueden ser homogéneos (todos los adenomas tienen el mismo fenotipo) o heterogéneos (diferente fenotipo tumoral). Describimos una familia congolesa en la que dos hermanas y una prima fueron diagnosticadas a los 29, 32 y 40 años, respectivamente, con un prolactinoma (FIPA homogéneo). Las pacientes presentaron macroadenomas no invasivos al momento del diagnóstico, con buena respuesta biológica y tumoral al tratamiento con cabergolina hasta una dosis máxima de 1.5 mg/semanal. De las dos hermanas, una cursó un embarazo sin complicaciones. Durante el seguimiento de 12 años, ninguna de ellas presentó elementos clínicos o biológicos compatibles con NEM1 o CNC, por lo que dichos genes no se estudiaron. El análisis genético en dos de las pacientes permitió descartar la posibilidad de una mutación germinal del gen aryl hydrocarbon receptor interacting protein (AIP). Se considera que el 80% de los pacientes con FIPA no presentan mutación del gen AIP, por lo que se requieren futuros estudios en este tipo de familias, para poder determinar otros genes afectados involucrados en su fisiopatología.


Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. FIPA kindred can be homogeneous (all adenomas affected in the family having the same tumor phenotype) or heterogeneous (different tumor phenotypes in the affected members). We describe a Congolese family in which two sisters and a cousin were diagnosed with a prolactinoma (homogenous FIPA) at the ages of 29, 32 and 40 years, respectively. The patients presented with macroadenomas at the time of diagnosis, non-invasive tumors and good biological response to cabergoline treatment (maximum dose of 1.5 mg/weekly). Of these two sisters, one went through a pregnancy without complications. Because no MEN1 and CNC clinical and biochemical features were detected during the 12-year follow-up, these genes were not investigated. The genetic analysis of the aryl hydrocarbon receptor interacting protein (AIP) was normal. As nearly 80% of patients with FIPA do not have a mutation in the AIP gene, future studies in these families are required to identify other affected genes involved in their physiopathology.


Subject(s)
Humans , Female , Adult , Pituitary Neoplasms/genetics , Adenoma/genetics , Growth Hormone-Secreting Pituitary Adenoma , Pituitary Neoplasms/diagnosis , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics , Magnetic Resonance Spectroscopy , Adenoma/diagnosis , Multiple Endocrine Neoplasia Type 1/genetics , Mutation
4.
Article in Chinese | WPRIM | ID: wpr-744403

ABSTRACT

Objective To observe the abnormality of lipid metabolism and renal function change in elderly patients with hypertension,and to evaluate the relationship between atherogenic index of plasma(AIP) and glomerular filtration rate(GFR).Methods From July 2015 to June 2017,in Quzhou People's Hospital,182 elderly patients with hypertension were selected as observation group,and 192 elderly healthy people with normal blood pressure were selected as control group.The total cholesterol(TC),triglyeride(TG),high density lipoprotein cholesterol (HDL-C) were detected,and the AIP =1og [TG/HDL-C] was calculated.The GFR was estimated by Cockcroft-Gault equation.The relationship between the estimated GFR (eGFR) and the blood lipid parameters was analyzed.Results The eGFR of the observation group and control group were (84.94 ± 19.49) mL · min-1 · (1.73m2)-1,(154.91 ± 20.44) mL· min-1 · (1.73m2)-1,respectively,the difference between the two groups was statistically significant (t =11.27,P < 0.01).The AIP of the observation group and control group were (0.68 ± 0.03),(-0.22 ± 0.02),respectively,the difference between the two groups was statistically significant (t =3.43,P < 0.01).There was a negative correlation between AIP and eGFR in the elderly patients with hypertension (r =-0.845,P < 0.01).Conclusion The fact shows that abnormality of lipid metabolism in the elderly patients with hypertension is present.AIP can be used as a plasma marker of atherosclerosis and could be used as a useful and important parameter for clinical observation in the elderly hypertensive patients with renal impairment.

5.
Article in Chinese | WPRIM | ID: wpr-698249

ABSTRACT

Objective To analyze the association of atherogenic index of plasma (AIP)and serum bilirubin with coronary in-stent restenosis after drug-eluting stent implantation.Methods For this research we recruited 268 patients who had undergone successful drug-eluting coronary stent implantation and then received coronary angiography.Both ends (from the edge of the supporting frame≤5 mm)or the vessel's diameter stenosis ≥50% were used as the definition of restenosis.According to the results of coronary angiography,the subjects were divided into restenosis group (42 cases)and non-restenosis group (226 cases).The total bilirubin,direct bilirubin,indirect bilirubin and AIP in the two groups were compared to explore the correlation of AIP and serum bilirubin with in-stent restenosis.Results AIP in restenosis group was significantly higher than that in non-restenosis group (P<0.05).The level of total bilirubin was significantly lower in the former group than in the latter one (P<0.05). Conclusion AIP is a risk factor for restenosis,and serum total bilirubin is a protective factor for coronary stent restenosis.

6.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;51(9): e7427, 2018. tab, graf
Article in English | LILACS | ID: biblio-951761

ABSTRACT

Genetic and functional aberrations of guanine nucleotide-binding protein, alpha stimulating (GNAS), aryl hydrocarbon receptor interacting protein (AIP), and pituitary tumor transforming gene (PTTG) are among the most prominent events in pituitary tumorigenesis. A cohort of Brazilian patients with somatotropinomas (n=41) and non-functioning pituitary adenomas (NFPA, n=21) from a single tertiary-referral center were evaluated for GNAS and AIP mutations and gene expression of AIP and PTTG. Results were compared to the clinical and biological (Ki67 and p53 expression) characteristics of tumors and their response to therapy, if applicable. Genetic analysis revealed that 27% of somatotropinomas and 4.8% of NFPA harbored GNAS mutations (P=0.05). However, no differences were observed in clinical characteristics, tumor extension, response to somatostatin analog therapy, hormonal/surgical remission rates, Ki67 index, and p53 expression between mutated and non-mutated somatotropinomas patients. PTTG overexpression (RQ mean=10.6, min=4.39, max=11.9) and AIP underexpression (RQ mean=0.56, min=0.46-max=0.92) were found in virtually all cases without a statistically significant relationship with clinical and biological tumor features. No patients exhibited somatic or germline pathogenic AIP mutations. In conclusion, mutations in GNAS and abnormal PTTG and AIP expression had no impact on tumor features and treatment outcomes in this cohort. Our data support some previous studies and point to the need for further investigations, probably involving epigenetic and transcriptome analysis, to improve our understanding of pituitary tumor behavior.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Pituitary Neoplasms/genetics , Adenoma/genetics , Germ-Line Mutation/genetics , Growth Hormone-Secreting Pituitary Adenoma/genetics , Pituitary Gland/pathology , Pituitary Neoplasms/pathology , Brazil , DNA, Neoplasm , Genetic Markers , Adenoma/pathology , Cell Transformation, Neoplastic , Cohort Studies , Intracellular Signaling Peptides and Proteins , Growth Hormone-Secreting Pituitary Adenoma/pathology , Carcinogenesis
7.
Article in English | IMSEAR | ID: sea-172986

ABSTRACT

Background: Diet deficient in fresh fruits and vegetables are associated with an increased risk of coronary diseases. Low levels of vitamin C, vitamin E and other antioxidants may enhance the production of oxidized LDL and are important independent risk factors for coronary disease. Objective: To make a comparative evaluation of lipid profile and atherogenic index of plasma (AIP) between vegetarians and nonvegetarians. Materials and Methods: This case-control study was carried out in the Department of Biochemistry of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka between July 2011 to June 2012. Vegetarian and nonvegetarian subjects of male sex were the study population. Vegetarians were considered as cases while nonvegetarians as controls. After proper ethical consideration a total of 30 vegetarians and 40 nonvegetarians were consecutively included in the study based on predefined inclusion and exclusion criteria. Laboratory investigations were done in the Department of Biochemistry, BSMMU, Dhaka. Results: The vegetarians had significantly lower total cholesterol and LDLcholesterol than the nonvegetarians (p=0.000 and p=0.000 respectively). Serum HDL cholesterol was also lower among the vegetarians (p=0.002) and triglycerides were almost identical in both the groups (p=0.272). Conclusion: The study reveals lower level of total cholesterol, LDLcholesterol and HDL-cholesterol in vegetarians. No difference regarding triglycerides and AIP was found between the groups. So, the findings of this study do not indicate any superiority of vegetarian diet in control and prevention of cardiac diseases.

8.
Article in Chinese | WPRIM | ID: wpr-437603

ABSTRACT

Objective To investigate the sensory-discriminative and affective-motivational pain response of intrathecal injection of m-AIP,a special inhibitor of CaMKII,in a rat model of chronic constriction injury of sciatic nerve(CCI).Methods Eighteen SD rats were divided randomly into 3 groups(n=6):Group S(sham),Group C(control) and Group m-AIP.Group C and m-AIP were operated with the model of neumpathic pain induced by chronic constriction injury of sciatic nerve; Group S were treated as sham operated rats.Seven days after operation,Group S and C received intrathecal injection of 0.9% NaCI 20 μl,while Group m-AIP received intrathecal injection of m-AIP 0.5 nmol/20 μl.Escape/avoidance behavior refrecting the affective-motivational dimension of pain was measured on 1.5 h after administration.Rats received pain behavior tests including paw withdrawal mechanical threshold(PWMT) and paw withdrawal thermal latency(PWTL) before and 2 h,4 h,8 h after administration.Results Treatment with m-AIP attenuated escape/avoidance behavior and reversed pain behaviors after CCI.At 2h and 4h after administration,Group m-AIP PWTL((1 1.45 ± 2.04)s,(10.26 ± 1.48)s) and PWMT ((21.15 ±4.32)g,(20.45 ±4.09) g) were increased when compared with Group C PWTL((9.63 ± 1.65)s,(9.30 ±0.73)s),PWMT((13.87 ±2.36)g,(14.80 ±3.12)g)(P<0.05).Before and8 h after administration,Group m-AIP PWTL,PWMT had no significant difference when compared with Group C (P > 0.05).Conclusion CaMKⅡ may play an important role in sensory and affective pain processing in neuropathic rats.Intrathecal injection of m-AIP can effectively improve pain behaviors and attenuate negative affect.

9.
Article in Chinese | WPRIM | ID: wpr-438477

ABSTRACT

Objective To investigate the forensic characteristics of death cases of Acute Interstitial Pneumonia (AIP), so as to provide references for forensic assessment of AIP. Methods The data of 27 AIP death cases were retrospectively analyzed. The data included the population characteristics, toxicology, pathology and causes of death. Results All 27 patients had clinical symptoms including fever, cough and chest tightness, 25 patiens of them were treated as upper respiratory tract infection in local hospital, and finally died of deteriorating condition. The forensic diagnosis after autopsy showed the 27 cases were died of respiratory failure caused by AIP. Conclusion AIP is a disease with rapid progression and often leads to medical disputes,the patient's families often have different opinion on the death cause of patients with the hospital,so forensic identification of the cause of death is conducive to resolve the disputes.

10.
Clinics ; Clinics;67(supl.1): 3-6, 2012.
Article in English | LILACS | ID: lil-623123

ABSTRACT

The finished version of the human genome sequence was completed in 2003, and this event initiated a revolution in medical practice, which is usually referred to as the age of genomic or personalized medicine. Genomic medicine aims to be predictive, personalized, preventive, and also participative (4Ps). It offers a new approach to several pathological conditions, although its impact so far has been more evident in mendelian diseases. This article briefly reviews the potential advantages of this approach, and also some issues that may arise in the attempt to apply the accumulated knowledge from genomic medicine to clinical practice in emerging countries. The advantages of applying genomic medicine into clinical practice are obvious, enabling prediction, prevention, and early diagnosis and treatment of several genetic disorders. However, there are also some issues, such as those related to: (a) the need for approval of a law equivalent to the Genetic Information Nondiscrimination Act, which was approved in 2008 in the USA; (b) the need for private and public funding for genetics and genomics; (c) the need for development of innovative healthcare systems that may substantially cut costs (e.g. costs of periodic medical followup); (d) the need for new graduate and postgraduate curricula in which genomic medicine is emphasized; and (e) the need to adequately inform the population and possible consumers of genetic testing, with reference to the basic aspects of genomic medicine.


Subject(s)
Humans , Carcinoma, Medullary/genetics , Delivery of Health Care/economics , Genetic Testing/economics , Multiple Endocrine Neoplasia/genetics , Mutation/genetics , Precision Medicine , Thyroid Neoplasms/genetics , Brazil , Carcinoma, Medullary/diagnosis , Genetic Privacy/legislation & jurisprudence , Genetic Testing/legislation & jurisprudence , Insurance, Health/legislation & jurisprudence , Multiple Endocrine Neoplasia/diagnosis , Private Sector , Public Sector , Parathyroid Neoplasms/genetics , Thyroid Neoplasms/diagnosis
11.
Clinics ; Clinics;67(supl.1): 37-41, 2012. ilus, tab
Article in English | LILACS | ID: lil-623129

ABSTRACT

Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.


Subject(s)
Humans , Adenoma/genetics , Intracellular Signaling Peptides and Proteins/genetics , Mutation , Multiple Endocrine Neoplasia Type 1/genetics , Pituitary Neoplasms/genetics , Acromegaly/genetics , Genetic Testing , Growth Hormone-Secreting Pituitary Adenoma/genetics , Pedigree
12.
Article in English | IMSEAR | ID: sea-148929

ABSTRACT

Aim to assess the differences between Atherogenic Index of Plasma (AIP), ratio of oxidized-Low Density Lipoprotein (Ox- LDL)/High Density Lipoprotein (HDL) and ratio of Lipoprotein-associated Phospholipase A2 (Lp-PLA2)/HDL in predicting the risk of coronary heart disease (CHD) in patients with controlled and uncontrolled type 2 Diabetes Mellitus (T2DM). Methods The study was done observationally with cross sectional design. A total of 80 patients, consisted of 40 controlled and 40 uncontrolled T2DM. The serum triglyceride (TG), HDL-C, Ox-LDL, Lp-PLA2 were examined in their relationship with T2DM risk. AIP is a ratio calculated as log (TG/HDL-C). Results AIP and ratio of Ox-LDL/HDL were signifi cantly higher in uncontrolled than controlled T2DM (0.72 + 0.13 vs 0.47 ± 0.22 , p < 0.001) and (1738.8 ± 625.5 vs 1418 ± 535.3, p = 0.02), but no signifi cant difference was found in ratio of Lp-PLA2/HDL (5.09 ± 2.17 vs 5.95 ± 3.11, p = 0.16). Conclusion AIP and ratio of Ox-LDL/HDL value were signifi cantly higher in uncontrolled than in controlled T2DM. These parameters may be benefi cial in predicting the risk of atherosclerosis in diabetic patients.


Subject(s)
Diabetes Mellitus, Type 2 , Oxidation-Reduction , Coronary Disease
13.
Clinics ; Clinics;65(4): 407-415, 2010. ilus
Article in English | LILACS | ID: lil-546316

ABSTRACT

OBJECTIVE: Non-pituitary tumors have been reported in a subset of patients harboring germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far. PATIENTS: We examined a MEN1- and p53-negative mother-daughter pair with acromegaly due to somatotropinoma. Subsequently, the mother developed a large virilizing adrenocortical carcinoma and a grade II B-cell non-Hodgkin's lymphoma. DESIGN: Mutational analysis was performed by automated sequencing. Loss-of-heterozygosity (LOH) analysis was carried out by sequencing and microsatellite analysis. AIP expression was assessed through quantitative PCR (qPCR) and immunohistochemistry. RESULTS: The functional inactivating mutation c.241C>T (R81X), which blocks the AIP protein from interacting with phosphodiesterase 4A (PDE4A), was identified in the heterozygous state in the leukocyte DNA of both patients. Analyzing the tumoral DNA revealed that the AIP wild-type allele was lost in the daughter's somatotropinoma and the mother's adrenocortical carcinoma. Both tumors displayed low AIP protein expression levels. Low AIP gene expression was confirmed by qPCR in the adrenocortical carcinoma. No evidence of LOH was observed in the DNA sample from the mother's B-cell lymphoma, and this tumor displayed normal AIP immunostaining. CONCLUSIONS: Our study presents the first molecular analysis of non-pituitary tumors in AIP-mutated patients. The finding of AIP inactivation in the adrenocortical tumor suggests that further investigation of the potential role of this recently identified tumor suppressor gene in non-pituitary tumors, mainly in those tumors in which the cAMP and the 11q13 locus are implicated, is likely to be worthwhile.


Subject(s)
Adolescent , Adult , Female , Humans , Acromegaly/genetics , Adenoma/genetics , Adrenocortical Carcinoma/genetics , Growth Hormone-Secreting Pituitary Adenoma/genetics , Intracellular Signaling Peptides and Proteins/genetics , Pituitary Neoplasms/genetics , Adenoma , Gene Expression , Germ-Line Mutation , Loss of Heterozygosity/genetics , Multiple Endocrine Neoplasia Type 1/genetics , Polymerase Chain Reaction , Pituitary Neoplasms
14.
Article in Chinese | WPRIM | ID: wpr-401529

ABSTRACT

Objective To study the effects of overexpression of HRAD17 on radiation-induced apoptosis of A549 cells.Methods Transfection of FLAC-tagged HRAD17 expression plasmid into human A549 cells was carried out and flow cytometry was employed tO observe the apoptotic effect.In addition,phosphorylation of p53 Ser46 was detected by Westem blot and the transcription of p53 AIP1 was measured by RT-PCR.Results Overexpression of HRAD17 gene significantly increased radiation-induced apoptosis of A549 cells.Further.Ser46 phosphorylation of P53 protein was increased and transcription of p53 AIP1 gene was elevated in cells overexpressing HRAD17.Conclusions HRAD17 protein can sensitize A549 cells to radiation-induced apoptosis in part by increasing p53 AIP1 expression.

15.
Brasília méd ; 45(3): 244-249, 2008. tab
Article in Portuguese | LILACS | ID: lil-528136

ABSTRACT

Os adenomas hipofisários familiares são condição rara, cuja descrição inicial foi em neoplasia endócrina múltipla tipo 1 e em complexo de Carney, doenças provocadas por mutações nos genes MEN1 e PRKAR1A respectivamente. O somatotropinoma familiar isolado é também uma síndrome clínica bem descrita, relacionada exclusivamente em pacientes com acrogigantismo. Os adenomas hipofisários de todos os tipos - não limitados aos somatotropinomas - podem ocorrer em cenário familiar na ausência do MEN1 e do complexo de Carney. Este fenótipo é denominado adenomas hipofisários familiares isolados. Nesses adenomas, os fenótipos do adenoma da hipófise, seja homogêneo ou heterogêneo, podem ocorrer em famílias. Os casos de adenomas hipofisários familiares isolados diferem do MEN1 em termos de baixa proporção de prolactinomas e maior frequência de somatotropinomas no coorte desses adenomas. Pacientes com esta doença são mais jovens e têm prolactinomas com maiores dimensões que aqueles portadores de adenoma hipofisário esporádico. A minoria das famílias com esses adenomas hipofisários (15%) trazem mutação no gene que codifica a proteína interatuante-receptora do aril-hidrocarboneto (aryl hydrocarbon receptor interacting protein AIP). Mutações nessa proteína estão presentes em somente metade dos casos de somatotropinoma familiar isolado, ocorrendo como parte dos coortes de adenomas hipofisários familiares isolados. Em famílias com mutações no gene da AIP, os adenomas hipofisários estão em fase invasiva em mais de 50% dos casos. Tais mutações são extremamente raras em pacientes com adenoma hipofisário esporádico. Esta revisão trata de adenomas hipofisários de origem familiar, em que se descrevem em detalhes os achados clínicos, patológicos e genéticos dessa afecção e direciona aspectos da abordagem clínica das famílias com a anomalia, portadoras ou não de mutações no gene AIP.


Familial pituitary adenomas are a rare condition and was firstly described in multiple endocrine neoplasia type 1(MEN1) and Carney's complex, which occur due to mutations in the genes MEN1 and PRKAR1A, respectively. Isolated familial somatotropinoma is also a well-described clinical syndrome related only to patients with acrogigantism. Pituitary adenomas of all types - not limited to isolated familial somatotropinoma - can occur in a familial setting in the absence of MEN1 and Carney's complex; this phenotype is termed familial isolated pituitary adenomas (FIPA). In these adenomas both homogeneous and heterogeneous pituitary adenoma phenotypes can occur within families. These adenomas differs from MEN1 in terms of a lower proportion of prolactinomas and more frequent somatotropinomas in the FIPA cohort. Patients with familial isolated pituitary adenomas are significantly younger at diagnosis and have significantly larger pituitary adenomas than matched sporadic pituitary adenoma counterparts. A minority of FIPA families overall (15%) exhibit mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene; AIP mutations are present in only half of isolated familial somatotropinoma kindreds occurring as part of the FIPA cohort. In families with AIP mutations, pituitary adenomas have a penetrance of over 50%. AIP mutations are extremely rare in patients with sporadic pituitary adenomas. This review deals with pituitary adenomas that occur in a familial setting, describes in detail the clinical, pathological and genetic features of familial isolated pituitary adenomas and addresses aspects of the clinical approach to FIPA families with and without AIP mutations.


Subject(s)
Humans , Adenoma , Pituitary Gland , Pituitary Neoplasms , Signs and Symptoms
16.
Article in Korean | WPRIM | ID: wpr-81776

ABSTRACT

Acute fibrinous and organizing pneumonia (AFOP) is a histological pattern consisting of prominent intra-alveolar fibrin and organizing pneumonia, with out hyaline membranes or prominent eosinophilia. The clinical manifestations of AFOP resemble those of acute lung injury such as acute interstitial pneumonia (AIP). However, the classic histological patterns of AFOP differ from diffuse alveolar damage (DAD), bronchiolitis obliterans with organizing pneumonia (BOOP) or acute eosinophilic pneumonia (AEP). The characteristic intra-alveolar fibrin ball and lack of classic hyaline membrane are the predominant histological features of AFOP. Although some reports suggest that its clinical course is less catastrophic than DAD, the clinical entity that distinguishes AFOP from DAD has not been established. We present a case of pathologically demonstrated AFOP in a 79-year-old man. The radiological findings of our case were similar to those of DAD, presented with diffuse bilateral lung infiltrations. However, despite the rapid development of respiratory failure, the patient had a better response and outcome to steroid therapy than what would be expected for DAD.


Subject(s)
Aged , Humans , Acute Lung Injury , Bronchiolitis Obliterans , Eosinophilia , Fibrin , Hyalin , Lung , Lung Diseases, Interstitial , Membranes , Pneumonia , Pulmonary Eosinophilia , Respiratory Insufficiency
17.
Article in Korean | WPRIM | ID: wpr-219589

ABSTRACT

Nonspecific interstitial pneumonia (NSIP) was first described as a new category of idiopathic interstitial pneumonia in 1994. This is a disease with a more insidious onset and has a chronic course. The histological findings are unusual for other idiopathic interstitial pneumonia cases (usual interstitial pneumonia, diffuse interstitial pneumonia, and acute interstitial pneumonia). In contrast to NSIP, acute interstitial pneumonia (AIP) has an acute onset and a fulminant course with the rapid development of respiratory failure. A pathological examination demonstrated characteristic diffuse interstitial fibrosis, hyaline membranes, thrombi, and architectural derangement. Here we report a 48-year-old woman who was diagnosed pathologically NSIP, but with a rapid progressive course similar to AIP.


Subject(s)
Female , Humans , Middle Aged , Fibrosis , Hyalin , Idiopathic Interstitial Pneumonias , Lung Diseases, Interstitial , Membranes , Respiratory Insufficiency
18.
Article in Korean | WPRIM | ID: wpr-228559

ABSTRACT

The Porphyria are a group of inherited and acquired disorders characterized by partial defects in the heme biosynthetic pathway. Among the hepatic forms, acute intermittent porphyria(AIP) is the most severe and common type in western hemisphere. Though its association with pregnancy is rare, it presents the obstetrician with challenging problems in diagnosis and management and it is probable that pregnancy had some deleterious effect in acute porphyria. The authors present a cae of AIP in pregnancy with a review of literature.


Subject(s)
Pregnancy , Biosynthetic Pathways , Diagnosis , Heme , Porphyria, Acute Intermittent , Porphyrias
19.
Article in Korean | WPRIM | ID: wpr-208587

ABSTRACT

It is the purpose of this experimental study to investigate the alterations of the amount of adenosine nucleotides and adenylate energy charge in the acute focal cerebral ischemia of cats utilizing high performance liquid chromatography and to make a comparative study of protective effects of recirculation and combined therapy with mannitol, steroid and barbiturate. Acute focal cerebral ischemia in cats was induced by occlusion of the left middle cerebral artery through the postorbital technique. The experimental animals were divided into four groups according to the duration of occlusion time. The experimental results are obtained as follows: 1) In 1, 3 and 5 hour-occlusion groups, amount of adenosine triphosphate and summation of adenosine nucleotides decreased significantly to 21.4%, 5% & 0%, 44.0%, 29.9% & 10.8% of the sham control, respectively. Also in these groups adenylate energy charge decreased significantly to 62.7%, 38.7% and 30.7% of the sham control, respectively. It was suggested that the longer duration of occlusion time was, the more amount of adenosine triphosphate, summation of adenosine nucleotides and adenylate energy charge decreased significantly. 2) In 1 and 3 hour-occlusion groups, 2 hour-recirculation increased significantly amount of adenosine triphosphate and summation of adenosine nucleotides to 37.4% & 29.4%, and 62.1% & 58.3% of the sham control, respectively. Also in these groups recirculation increased significantly adenylate energy charge to 70.7% and 65.3% of the sham control, respectively. Whereas there was a slight increase of adenylate energy charge after recirculation in 5 hour-occlusion group, but not significant. 3) In the groups of recirculation following 5 hour-occlusion, pretreatment of combination of mannitol and steroid, or mannitol, steroid and barbiturate increased significantly amount of adenosine triphosphate, summation of adenosine nucleotides, and adenylate energy charge to 57.2% or 66.1%, 80.9% or 83.5% and 82.7% or 84.0% of sham control, respectively.


Subject(s)
Animals , Cats , Adenosine , Adenosine Triphosphate , Brain Ischemia , Chromatography, Liquid , Mannitol , Metabolism , Middle Cerebral Artery , Nucleotides
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