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This manuscript discusses a rare case of acute appendicitis caused by metastasis from invasive breast carcinoma of no special type in a 70-year-old female previously diagnosed with breast cancer. It delves into the diagnostic challenges and management complexities of such unusual clinical presentations. The paper includes an analysis of 19 documented cases, enriching the understanding of metastatic patterns and treatment strategies in breast cancer. It underlines the importance of considering a history of malignancy when diagnosing acute abdominal conditions and emphasizes a comprehensive approach in interpreting diagnostic imaging in patients with past oncological issues to effectively manage metastatic breast cancer exhibiting atypical manifestations.
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BACKGROUND: (Pre-)Implantation biopsies provide important data on the quality of donor kidneys. Interstitial fibrosis, as a known predictor for kidney disease progression, is an essential feature of this evaluation. However, the assessment of frozen sections of implantation biopsies is challenging and can result in the disposal of candidate organs. We sought to apply digital image analysis (DIA) to quantify the differences between frozen and paraffin sections when evaluating interstitial fibrosis, identify factors that influence these variations and test the predictive value of the computerised measures. METHODS: We quantified the differences between frozen and paraffin sections in the same biopsy samples by measuring Sirius red-stained interstitial areas (SRIA) in DIA. We compared them to the original reports, and retrospectively correlated our findings to clinical data, graft function and outcome in 73 patients. RESULTS: Frozen sections display a broader interstitial area than paraffin sections, in some cases up to one-third more (mean difference + 7.8%, range - 7 to 29%). No donor-related factors (age or gender, cold ischemia time, or non-heart-beating donor) influenced significantly this difference. Compared to the original assessment of frozen vs paraffin sections in optical microscopy, the DIA of interstitial fibrosis shows a higher consistency (ICC 0.69). Our approach further allows to distinguish SRIA in paraffin sections as an independent predictor for delayed graft function (OR = 1.1; p = 0.028). CONCLUSIONS: DIA is superior to and more consistent than routine optic microscopy for interstitial fibrosis evaluation. This method could improve implantation biopsy diagnostics and help to reduce disposal of organs.
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Função Retardada do Enxerto , Transplante de Rim , Biópsia , Computadores , Fibrose , Humanos , Rim/patologia , Transplante de Rim/efeitos adversos , Parafina , Estudos RetrospectivosRESUMO
BACKGROUND: Nephrectomy is the management of choice for the treatment of renal tumors. Surgical pathologists primarily focus on tumor diagnosis and investigations relating to prognosis or therapy. Pathological changes in non-neoplastic tissue may, however, be relevant for further management and should be thoroughly assessed. METHODS: Here, we examined the non-neoplastic renal parenchyma in 206 tumor nephrectomy specimens for the presence of glomerular, tubulo-interstitial, or vascular lesions, and correlated them with clinical parameters and outcome of renal function. RESULTS: We analyzed 188 malignant and 18 benign or pseudo-tumorous lesions. The most common tumor type was clear cell renal cell carcinoma (CCRCC, n = 106) followed by papillary or urothelial carcinomas (n = 25). Renal pathology examination revealed the presence of kidney disease in 39 cases (18.9%). Glomerulonephritis was found in 15 cases (7.3%), and the most frequent was IgA nephropathy (n = 6; 2.9%). Vasculitis was found in two cases (0.9%). In 15 cases we found tubulo-interstitial nephritis, and in 9 severe diabetic or hypertensive nephropathy. Partial nephrectomy was not linked to better eGFR at follow-up. Age, vascular nephropathy, glomerular scarring and interstitial fibrosis were the leading independent negative factors influencing eGFR at time of surgery, whereas proteinuria was associated with reduced eGFR at 1 year. CONCLUSION: Our large study population indicates a high incidence of renal diseases potentially relevant for the postoperative management of patients with renal neoplasia. Consistent and systematic reporting of non-neoplastic renal pathology in tumor nephrectomy specimens should therefore be mandatory.
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Carcinoma de Células Renais , Neoplasias Renais , Nefrite , Carcinoma de Células Renais/cirurgia , Humanos , Rim/fisiologia , Rim/cirurgia , Neoplasias Renais/cirurgia , Nefrectomia/efeitos adversosRESUMO
Background: The development of necrotizing enterocolitis (NEC) in neonates with patent ductus arteriosus (PDA) is not well-understood. Our aim was to find risk factors for NEC in children with a significant PDA and to assess differences in mortality and duration of hospital stay between patients with PDA and those with PDA and NEC. Methods: We performed a retrospective single center case control study including infants with PDA scheduled for treatment. We compared multiple patient data between patients with PDA and those with PDA and NEC from 2004 to 2018 using 1:2 and 1:1 matching. Results: We used 1:2 matching with 26 NEC patients (cases) and 52 PDA patients without NEC (controls) and 1:1 matching with 5 NEC patients and 5 PDA patients without NEC. NEC patients had lower Apgar score (1'), more congenital malformations, more suspected sepsis, less hypotension, higher minimum platelet count and higher CRP-values during the week before NEC (P < 0.05, respectively). The mortality was higher in NEC cases [29% (9/31)] compared to the control patients [2% (1/57), P < 0.001]. Lower Apgar score (1') was correlated with an increased risk of NEC stage III. Hypotension was inversely correlated with the odds of NEC (OR 0.3). Conclusions: NEC increased mortality in infants with PDA. Hypotension did not increase the risk of NEC in infants with PDA. Routine clinical parameters were not able to predict NEC in infants who suffer from PDA.
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BACKGROUND: Cardiovascular disease is the leading nonmalignant cause of late deaths in childhood cancer survivors. Cardiovascular disease and cardiac dysfunction can remain asymptomatic for many years, but eventually lead to progressive disease with high morbidity and mortality. Early detection and intervention are therefore crucial to improve outcomes. OBJECTIVE: In our study, we aim to assess the prevalence of preclinical cardiac dysfunction in adult childhood cancer survivors using conventional and speckle tracking echocardiography; determine the association between cardiac dysfunction and treatment-related risk factors (anthracyclines, alkylating agents, steroids, cardiac radiation) and modifiable cardiovascular risk factors (abdominal obesity, hypertension); investigate the development of cardiac dysfunction longitudinally in a defined cohort; study the association between cardiac dysfunction and other health outcomes like pulmonary disease, endocrine disease, renal disease, quality of life, fatigue, strength and endurance, and physical activity; and gain experience conducting a clinical study of childhood cancer survivors that will be extended to a national, multicenter study of cardiac complications. METHODS: For this retrospective cohort study, we will invite ≥5-year childhood cancer survivors who were treated at the University Children's Hospital Bern, Switzerland with any chemotherapy or cardiac radiation since 1976 and who are ≥18 years of age at the time of the study for a cardiac assessment at the University Hospital Bern. This includes 544 childhood cancer survivors, of whom about half were treated with anthracyclines and/or cardiac radiation and half with any other chemotherapy. The standardized cardiac assessment includes a medical history focusing on signs of cardiovascular disease and its risk factors, a physical examination, anthropometry, vital parameters, the 1-minute sit-to-stand test, and echocardiography including 2-dimensional speckle tracking. RESULTS: We will invite 544 eligible childhood cancer survivors (median age at the time of the study, 32.5 years; median length of time since diagnosis, 25.0 years) for a cardiac assessment. Of these survivors, 300 (55%) are at high risk, and 244 (45%) are at standard risk of cardiac dysfunction. CONCLUSIONS: This study will determine the prevalence of preclinical cardiac dysfunction in Swiss childhood cancer survivors, inform whether speckle tracking echocardiography is more sensitive to cardiac dysfunction than conventional echocardiography, and give a detailed picture of risk factors for cardiac dysfunction. The results will help improve primary treatment and follow-up care of children with cancer. TRIAL REGISTRATION: ClinicalTrials.gov NCT03790943; https://clinicaltrials.gov/ct2/show/NCT03790943. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/17724.
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Background: Studies on the influence of congenital heart disease (CHD) on neonates with necrotizing enterocolitis (NEC) have produced varied results. We therefore examined the influence of CHD on NEC outcomes. Methods: We carried out a retrospective single-center study including infants with confirmed NEC, treated between 2004 and 2017. We excluded patients with isolated patent ductus arteriosus or pulmonary hypertension (n = 45) and compared outcomes of patients with hemodynamically relevant CHD (n = 38) and those without CHD (n = 91). Results: Patients with CHD were more mature than those without CHD [gestational age, median, 95% confidence interval (CI95), 37.1, 34.5-37.2w, vs. 32.6, 31.9-33.3w; P < 0.01]. The presence of CHD did not influence the frequencies of severe disease (overall 21% Bell stage III), nor surgical interventions (overall 30%), the occurrence of intestinal complications (overall 13%), nor the duration of hospitalization (overall 38 days in survivors). The overall mortality as well as NEC-related mortality was increased with the presence of CHD, being 50% (19 out of 38) and 13% (5 out of 38), respectively, when compared to patients without CHD, being 8% (7 out of 91) and 3% (3 out of 91). The presence of CHD and of advanced NEC stage III were independent predictors of NEC-associated fatalities with multivariable odds ratios (CI95) of 7.0, 1.3-39.5 for CHD, and of 3.4, 1.6-7.5 for stage III disease. Conclusions: While some outcome parameters in neonates with NEC remained unaffected by the presence of CHD, the mortality risk for patients with CHD was seven times higher than without CHD.
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INTRODUCTION: Gastric cancer (GC) represents one of the most common cancers worldwide, frequently diagnosed at advanced stages with poor prognosis, indicating on need for new diagnostic and prognostic markers. The aim of the study was to determine the expression of IL-32, proinflammatory and angiogenic mediators, in patients with diffuse and intestinal gastric cancer and the relationship with clinicopathological aspects. MATERIAL AND METHODS: The tissue samples of diffuse and intestinal types of tumor of 70 patients with gastric cancer were analyzed. Expression of IL-32, VEGF, IL-17, and CD31 was measured by immunohistochemistry. RESULTS: IL-32 expression was significantly lower in tissue samples from patients with diffuse type of gastric cancer that is also a severe and more progressive form (TNM stages III and IV, poor histological differentiation, and higher nuclear grade III). Expression of IL-17 was also decreased in patients with diffuse type of gastric cancer. Microvascular density was diminished in diffuse type of gastric cancer. CONCLUSIONS: Downregulated expression of IL-32 in tumor tissue of patients with diffuse type of gastric cancer may implicate on its role in limiting ongoing proinflammatory and proangiogenic processes. This emphasizes on unrecognized role of IL-32 in biology of diffuse type of gastric cancer.
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OBJECTIVES: We sought to assess the safety and efficacy of percutaneous closure of atrial septal defects (ASDs) under fluoroscopic guidance only, without periprocedural echocardiographic guidance. BACKGROUND: Percutaneous closure of ASDs is usually performed using simultaneous fluoroscopic and transthoracic, transesophageal (TEE), or intracardiac echocardiographic (ICE) guidance. However, TEE requires deep sedation or general anesthesia, which considerably lengthens the procedure. TEE and ICE increase costs. METHODS: Between 1997 and 2008, a total of 217 consecutive patients (age, 38 ± 22 years; 155 females and 62 males), of whom 44 were children ≤16 years, underwent percutaneous ASD closure with an Amplatzer ASD occluder (AASDO). TEE guidance and general anesthesia were restricted to the children, while devices were implanted under fluoroscopic guidance only in the adults. For comparison of technical safety and feasibility of the procedure without echocardiographic guidance, the children served as a control group. RESULTS: The implantation procedure was successful in all but 3 patients (1 child and 2 adults; 1.4%). Mean device size was 23 ± 8 mm (range, 4-40 mm). There was 1 postprocedural complication (0.5%; transient perimyocarditis in an adult patient). At last echocardiographic follow-up, 13 ± 23 months after the procedure, 90% of patients had no residual shunt, whereas a minimal, moderate, or large shunt persisted in 7%, 1%, and 2%, respectively. Four adult patients (2%) underwent implantation of a second device for a residual shunt. During a mean follow-up period of 3 ± 2 years, 2 deaths and 1 ischemic stroke occurred. CONCLUSION: According to these results, percutaneous ASD closure using the AASDO without periprocedural echocardiographic guidance seems safe and feasible.
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Cateterismo Cardíaco , Comunicação Interatrial/cirurgia , Dispositivo para Oclusão Septal , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Ecocardiografia Transesofagiana , Estudos de Viabilidade , Feminino , Fluoroscopia , Seguimentos , Comunicação Interatrial/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Cirurgia Assistida por Computador , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
Dilatation of the ascending aorta is an important sequel in conotruncal anomalies, such as tetralogy of Fallot (TOF) or d-transposition of the great arteries (TGA). We measured dimensions and their progression at different levels of the ascending aorta in 80 patients. In TOF patients, mean z-score for aortic annulus was 1.65 (range -3.16-6.47), for sinus 1.93 (range -2.28-5.39), for st-junction 4.15 (range 0.0-8.18), and for ascending aorta 3.51 (range -1.23-6.36). Over time, annulus z-scores increased in the univariate analysis [0.07/year, 95 % confidence interval (CI) 0.01-0.14; p = 0.02], and this was unique to male patients (0.08/year, 95 % CI 0.00-0.15; p = 0.05). z-scores of the ascending aorta decreased (-0.1/year, 95 % CI -0.18 to -0.02; p = 0.02), and this was confined to patients without aortic regurgitation (AR; -0.09/year, 95 % CI -0.18 to -0.01; p = 0.04). In TGA, mean z-score for the aortic annulus was 2.13 (range -3.71-8.39), for sinus 1.77 (range -3.04-6.69), for st-junction 1.01 (range -5.44-6.71), and for ascending aorta 0.82 (range -4.91-6.46). In bivariate analysis, annulus z-scores decreased in females (-0.14/year, 95 % CI -0.25 to -0.03; p = 0.01) and in patients without AR (-0.07/year, 95 % CI -0.14-0.0; p = 0.03). z-scores of the ascending aorta increased significantly in males (0.08/year, 95 % CI 0.0 to 0.16; p = 0.05) and in patients with AR (0.12/year, 95 % CI 0.03-0.21; p = 0.01). In conclusion, TOF and TGA z-scores of the ascending aorta differ significantly from those of the normal population. Progression of z-scores over time is influenced by diagnosis, sex, and presence of AR.
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Aorta/diagnóstico por imagem , Valva Aórtica/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Adolescente , Aorta/fisiopatologia , Valva Aórtica/fisiopatologia , Criança , Pré-Escolar , Dilatação Patológica , Ecocardiografia , Feminino , Cardiopatias Congênitas/complicações , Humanos , Lactente , Masculino , Suíça , Adulto JovemRESUMO
INTRODUCTION: Blount disease is developmental disorder of the lower leg, manifested by multiplanar deformity. Surgical treatment includes corrective osteotomy, lateral hemiepiphisyodesis, distraction of the proximal tibial physis, physeal bar resection and elevation of the medial tibial plateau. CASE OUTLINE: A case of a 4-year-old girl with bow legs is presented. Condition was recognized as Blount disease, type five. Both lower legs were operated by medial methaphyseal semi-osteotomy of the proximal tibia with the elevation of the medial tibial plateau. Prospectively, bilateral proximal hemiepiphysiodesis was done. Total follow-up period was eighteen years.The patient has no disturbances, clinical and radiographic findings are excellent. Improvement of the femoro-tibial angle is 22 degrees on the right side, and 21 degrees on the left side. Improvement of the varus angle is 7 degrees on the right side, and 27 degrees on the left side. Medial plateau depression is completely bilaterally reduced; improvement on the right side is 46 degrees, and 51 degrees on the left side. CONCLUSION: It is known today that multiplanar deformity is a part of the disease; varus, antecurvatum and internal rotation of the lower leg. By elevation of the medial plateau varus of the lower and antecurvatum component of deformity can be solved, while internal torsion cannot be solved. This deformity has to be either skillfully neglected, or corrected by an additional osteotomy by the elevation of the medial tibial plateau. Lateral hemiepiphysiodesis serves as extra stabilisator of the achieved result, and it is recommended to be done in combination with surgical elevation of the medial tibial plateau and derotative corrective osteotomy of the tibia.
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Doenças do Desenvolvimento Ósseo , Articulação do Joelho , Osteocondrose/congênito , Osteotomia/métodos , Tíbia , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/fisiopatologia , Doenças do Desenvolvimento Ósseo/cirurgia , Pré-Escolar , Feminino , Seguimentos , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/fisiopatologia , Articulação do Joelho/cirurgia , Osteocondrose/diagnóstico , Osteocondrose/fisiopatologia , Osteocondrose/cirurgia , Radiografia , Amplitude de Movimento Articular , Tíbia/diagnóstico por imagem , Tíbia/fisiopatologia , Tíbia/cirurgia , Resultado do TratamentoRESUMO
INTRODUCTION: Femoral neck fractures in children and adolescents are rare. However, their complications are frequent - avascular necrosis, femoral neck pseudoarthrosis, premature physeal closure with consequent growth disturbance and coxa vara deformity. CASE OUTLINE: A 9.5-year-old boy was injured in a car accident, and femoral neck fracture was diagnosed. Prior to admission at our hospital he was surgically treated several times. He was admitted at our hospital eight months following the accident. On the X-ray transcervical pseudoarthrosis of the femoral neck was found, as well as coxa vara deformity and metaphyseal avascular necrosis. He was operated at our hospital; all previously placed ostefixation material was removed, valgus osteotomy of 30 degrees was done as well as additional local osteoplasty using the commercial osteoindactive agent (Osteovit). Postoperatively, we applied skin traction, bed rest and physical therapy. At the final follow-up, the patient was recovered completely. He is now painless, the legs are of equal length, range of movements in the left hip is full, life activity is normal.The X-ray shows that the femoral neck pseudoarthrosis is fully healed. CONCLUSION: This case is presented in order to encourage other colleagues to challenge the problematic situation such as this one. Also, we would like to remind them what one should think about and what should be taken into consideration in the primary treatment of femoral neck fractures in children. Valgus femoral osteotomy, as a part of the primary treatment of femoral neck fracture in children (identically as in the adults) can prevent the occurrence of femoral neck pseudoarthrosis.
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Fraturas do Colo Femoral/cirurgia , Pseudoartrose/cirurgia , Criança , Humanos , MasculinoRESUMO
Obesity is becoming the epidemic health problem worldwide with a very complex etiology. The interaction between diverse genetic and environmental factors contributes to development of obesity. Among myriad of functions in central and peripheral tissues, brain-derived neurotrophic factor (BDNF) also regulates energy homeostasis, food intake and feeding behavior, and has a role in obesity and increased body mass index (BMI). BDNF Val66Met (rs6265) polymorphism is associated with BMI gain, but both positive associations and non-replications are reported. Since BMI changes over time and since genetic influences on BMI vary with age, the aim of the study was to evaluate association between BDNF Val66Met polymorphism and BMI gain in healthy subjects with middle or old age. The study included a cohort of 339 adult healthy Caucasians of Croatian origin, free of eating and metabolic disorders, evaluated in three time periods in the year 1972, 1982 and 2006, when the subjects were around 40, 50 and 70 years old, respectively. The results revealed a significant effect of smoking on BMI, but a lack of significant association between BDNF Val66Met polymorphism and overweight or obesity, and no significant association between BDNF Val66Met and BMI changes over time. These results did not confirm the major role of BDNF Val66Met in the regulation of BMI changes in adult and old healthy subjects.
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Índice de Massa Corporal , Fator Neurotrófico Derivado do Encéfalo/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Obesidade/epidemiologia , Obesidade/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Croácia/epidemiologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Estatística como AssuntoRESUMO
Tc-99m-methoxyisobutylisonitril (MIBI) scintigraphy is localizing diagnostic methods that is used for detection of sicken parathyroid gland (PT). The use of this method for PT diseases diagnosis makes surgical treatment of a patient more successful. This is a report about the patient who was surgically treated for primary hyperparathyroidism caused by hyperplasia of parathyroid glands and cancer of ectopic parathyroid gland. He was operated in two acts. The first surgical intervention was performed without preoperative diagnostics of Tc-99m-MIBI scintigraphy, while the second surgical intervention was preceded by Tc-99m-MIBI scintigraphy which clearly showed the existence of tumor in the back mediastinum (ectopic parathyroid gland). Pathophysiological analysis of the extirpated parathyroid gland showed the case of ectopic parathyroid gland cancer. The use of Tc-99m-MIBI scintigraphy as a localizing method before the first surgical intervention could have saved the patient from the second one and from risks it could have caused, as well.
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Alcoolismo/genética , Catecol O-Metiltransferase/genética , Esquizofrenia/genética , Fumar/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Tabagismo/genéticaRESUMO
INTRODUCTION: Metabolic syndrome (MetS) is a multifactorial disorder in which dyslipidemia plays an important role. Fatty acid-binding protein 2 (FABP 2) is responsible for transport of free fatty acids in the intestinal endothelium cells. FABP2-genetic variants might affect plasma lipid concentrations and intracellular lipid transport. The aim of this study was to investigate the association between FABP2 Ala54Thr genetic polymorphism and metabolic syndrome and some biochemical and anthropological parameters in elderly subjects. MATERIALS AND METHODS: This cross-sectional study included 140 men and 176 women older than 70 years. Fasting serum concentration of glucose, lipid parameters, total proteins and C-reactive protein were determined by standardized methods. Presence (MetS(+)) or absence (MetS(-)) of MetS was determined according to criteria of the International Diabetes Federation. FABP2 genetic polymorphism Ala54Thr (rs1799883) was genotyped with PCR-RFPL. RESULTS: The genotype frequencies for Ala/Ala, Ala/Thr and Thr/Thr genotype were 60, 36 and 6 in MetS(-), and 131, 70 and 13 in MetS(+), respectively, without statistical significance (P = 0.567). Ala/Ala genotype was a subgroup of non-carriers, while Ala/Thr and Thr/Thr genotypes were Thr54-carriers. Median triglyceride concentration was significantly lower in carriers then in non-carriers for whole MetS(+) group (P = 0.050); there were no significant difference between men with MetS (P = 0.144), but there was a difference between women with MetS (P = 0.020). T-test showed that mean HDL cholesterol concentrations in MetS(+) group for Thr54-carriers was significantly higher in whole group (P = 0.001), and for both genders (men P = 0.039; women P = 0.004) as compared to non-carriers. CONCLUSIONS: FABP2 genetic polymorphism is associated with lower triglyceride and higher HDL-cholesterol concentrations in elderly subjects with MetS. This genetic variation might be a useful marker for understanding dyslipidemia in MetS.
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Proteínas de Ligação a Ácido Graxo/genética , Síndrome Metabólica/sangue , Polimorfismo Genético , Idoso , Idoso de 80 Anos ou mais , Antropometria/métodos , Proteína C-Reativa/biossíntese , HDL-Colesterol/metabolismo , Estudos Transversais , Dislipidemias/sangue , Feminino , Genótipo , Humanos , Lipídeos/sangue , Masculino , Reação em Cadeia da Polimerase , Triglicerídeos/sangueRESUMO
Type 2 diabetes (T2D) and Alzheimer's disease (AD) are two progressive disorders with high prevalence worldwide. Polymorphisms in tumor necrosis factor-alpha (TNF-α) and apolipoprotein E (ApoE) genes might be associated with both T2D and AD, representing possible genetic markers for the development of the AD in subjects with T2D. The aim was to determine ApoE and G-308A TNF-α gene polymorphisms in unrelated Croatian Caucasians: 207 patients with sporadic AD, 196 T2D patients and 456 healthy controls. Patients with AD had higher frequency of ApoE4 allele compared to T2D patients and controls. The significant association, observed between ApoE2 allele and T2D, disappeared after the data were adjusted for age and sex. The genotype or allele frequencies of G-308A TNF-α gene polymorphism were similar among the patients with AD, T2D and healthy controls. In conclusion, these results do not support the hypothesis that the A allele of G-308A TNF-α gene polymorphism is associated either with AD or T2D. Our data confirm the association between the ApoE4 allele and AD, and point out the E2 allele of ApoE gene as the possible risk factor for T2D.
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Doença de Alzheimer/genética , Apolipoproteínas E/genética , Diabetes Mellitus Tipo 2/genética , Polimorfismo Genético/genética , Fator de Necrose Tumoral alfa/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Doença de Alzheimer/complicações , Doença de Alzheimer/epidemiologia , Croácia/epidemiologia , DNA/genética , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Frequência do Gene , Genótipo , Heterozigoto , Humanos , Modelos Logísticos , Masculino , Fatores de RiscoRESUMO
For three decades we followed up for longevity indicators, including diet, arterial blood pressure, and body mass index 379 mobile, long-living persons from Croatia, now aged 70 to 92 years, of whom 167 men aged (78.6 ± 4.0) years and 212 women aged (77.9 ± 4.1) years. One hundred and ninety-five were from the continental and 184 from the coastal Croatia. The participants were examined in 1972, 1982, and again in 2006/7. Changes in body mass index (BMI), arterial blood pressure (ABP), and in answers to our Food Frequency Questionnaire about dietary habits were analysed using log-linear models. Over the last 24 years of aging (age 55 to 78 years) the subjects showed a statistically significant decrease in body mass and height and a significant increase in the systolic blood pressure. Diastolic blood pressure and BMI showed no significant changes over this period. Consumption of preserved and fresh meat, bread, and starch (potato, pastry and rice) dropped significantly with age, while the consumption of fish, fresh and cooked vegetables, fruit, and dairy products significantly increased. These dietary changes were not associated with changes in the systolic and diastolic ABP. About 80 % were overweight (BMI >25 kg m(-2)) throughout the follow-up, even though their body mass dropped significantly after the age of 55. However, their survival suggests that BMI may not be the best indicator of longevity or healthy aging.
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Envelhecimento , Pressão Arterial , Índice de Massa Corporal , Dieta , Longevidade , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: The aim of this study was to determine the relationship between body mass index, biochemical parameters, and 5-hydroxytryptamine (5-HT) genetic polymorphisms and prostate dysfunction in an elderly general male population. RESULTS: One hundred and seventeen elderly male subjects [60 men without symptoms of prostate hyperplasia, 42 men with untreated benign prostatic hyperplasia (BPH), and 15 men with prostate cancer (PCa)] treated with finasteride or flutamide were included. Multiple comparisons showed significant difference in age, T-score, concentration of phosphorus, calcium, C-reactive protein, and prostate-specific antigen (PSA) between the groups. T-score was the lowest and phosphorus concentration was the highest in the PCa group. Highest PSA, proteins, calcium, and Hekal's formula score were found in the BPH group. Patients with PCa were more frequent GG+GA carriers of 5-HT1B 1997A/G gene polymorphism (p=0.035). Univariate regression analysis showed association of PCa-treated subjects with age (p=0.010) and 5-HT1B genetic polymorphism (p=0.018). Antiandrogen therapy affects T-score (p=0.017), serum phosphorus (p=0.008), glucose (p=0.036), and total proteins (p=0.050). Multivariate-stepwise logistic regression analysis showed the significant association of treated PCa with age (p=0.028) and inorganic phosphorus (p=0.005), and a marginal association with ultrasonographic T-score (p=0.052). CONCLUSIONS: Antiandrogen therapy might induce bone mineral loss in elderly PCa patients. Preliminary data imply that the genetic variants of the 5-HT1B receptor might be associated with PCa.
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Antagonistas de Androgênios/efeitos adversos , Doenças Ósseas Metabólicas/induzido quimicamente , Polimorfismo Genético , Neoplasias da Próstata/genética , Receptor 5-HT1B de Serotonina/genética , Idoso , Idoso de 80 Anos ou mais , Antagonistas de Androgênios/uso terapêutico , Densidade Óssea , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/genética , Finasterida/efeitos adversos , Finasterida/uso terapêutico , Flutamida/efeitos adversos , Flutamida/uso terapêutico , Frequência do Gene , Genótipo , Humanos , Masculino , Projetos Piloto , Hiperplasia Prostática/epidemiologia , Hiperplasia Prostática/genética , Hiperplasia Prostática/patologia , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/patologia , Serotonina/genéticaRESUMO
Management of homozygous familial hypercholesterolaemia is notoriously difficult. For these patients, LDL apheresis is considered the treatment of choice. Treatment initiation is advocated generally from the age of seven years onwards (Thompson et al., Atherosclerosis 198:247-255, 2008). Here, we present the case of a young girl from a large inbred family of Turkish descent with homozygous familial hypercholesterolaemia and fatal outcome at the early age of 4½ years.In conclusion, this case suggests that management of homozygous familial hypercholesterolaemia may require earlier and more aggressive treatment, including LDL apheresis before the age of seven years.