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1.
Iran J Kidney Dis ; 18(3): 150-158, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38904341

RESUMO

INTRODUCTION: Ambulatory blood pressure monitoring (ABPM) is a valuable tool for detecting abnormalities in nighttime blood pressure (BP), including non-dipping and nighttime hypertension. These abnormalities are independent predictors of a poor prognosis in patients with chronic kidney disease (CKD). The aim of our study  was to analyze ABPM data and evaluate nighttime BP abnormalities in an Iranian CKD population. METHODS: This cross-sectional study was conducted on sixty two patients at stages III and IV of CKD who were referred to a nephrology clinic in Tehran, Iran. The patients were classified as either dippers (19.4%) or non-dippers (80.6%), as well as nighttime normotensives (38.7%) or hypertensives (61.3%), based on ABPM  data and in accordance with 2023 ESC/ESH guidelines. We compared demographic data, estimated glomerular filtration rate (eGFR), and daytime BP levels among these groups. RESULTS: The mean age of patients was 56.34 years, with 61.1% of them being male. Daytime pulse pressure was significantly greater in non-dippers compared to dippers (52.67 vs. 44 mmHg, P = .02). We found a significant correlation between the extent of BP dipping and eGFR (R = 0.281, P = .02). Systolic and diastolic daytime BP levels were significantly higher in individuals with nighttime hypertension. Diabetic patients were more likely to be non-dippers and have nighttime hypertension. After adjusting for age, diabetes mellitus, and daytime pulse pressure in a multivariable model, we determined that eGFR independently predicted the  extent of BP dipping. CONCLUSION: Our results showed that both non-dipping and nighttime hypertension are highly prevalent in CKD patients, but they have distinct contributing factors. The eGFR was identified as an independent predictor of BP dipping, whereas nighttime BP levels were primarily determined by daytime BP levels. DOI: 10.52547/ijkd.7559.


Assuntos
Monitorização Ambulatorial da Pressão Arterial , Pressão Sanguínea , Ritmo Circadiano , Taxa de Filtração Glomerular , Hipertensão , Insuficiência Renal Crônica , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Estudos Transversais , Irã (Geográfico)/epidemiologia , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Hipertensão/fisiopatologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Idoso , Adulto , Fatores de Risco
2.
Front Nutr ; 10: 1232979, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37645631

RESUMO

Concerning the health outcomes of intermittent fasting in Ramadan, loss of fat-free mass (FFM) and changes in the content of body water are of paramount importance. In this study, we aimed to assess the concomitant alterations in body water compartment and composition following Ramadan fasting in healthy individuals. We conducted an open-label cohort with longitudinal follow-up, involving 73 healthy medical staff who planned to fast for at least 20 consecutive days during Ramadan. The primary outcomes of the cohort were changes in parameters related to body composition and water content, which were measured using bioelectrical impedance analysis by InBody S10 (InBody, Seoul, South Korea). Based on the results, the participants' weight decreased significantly by approximately 1,030 g after the fasting period (p < 0.001). There was a significant reduction in the fat mass of an average 828 g (p < 0.001), which accounted for more than 80% of the weight loss. The decline in FFM was not significant (190 g; p = 0.234). The amount of total body water (TBW) and extracellular water (ECW) did not change, while intracellular water (ICW) decreased significantly by about 160 mL (p = 0.027). A strong correlation was observed between the reduction of phase angle and the increase in ECW/TBW ratio (R = -0.71, p < 0.001). Overall, our findings revealed a minimal amount of weight loss after Ramadan fasting, which was mainly due to the loss of fat mass. The parallel decrease in ICW and phase angle indicated impaired cell membrane integrity, with subsequent movement of water from the intracellular to the extracellular compartment.

3.
BMC Health Serv Res ; 23(1): 45, 2023 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-36650516

RESUMO

BACKGROUND: End stage renal disease (ESRD) is a major health concern and a large drain on healthcare resources. A wide range of payment methods are used for management of ESRD. The main aim of this study is to identify current payment methods for dialysis and their effects. METHOD: In this scoping review Pubmed, Scopus, and Google Scholar were searched from 2000 until 2021 using appropriate search strategies. Retrieved articles were screened according to predefined inclusion criteria. Data about the study characteristics and study results were extracted by a pre-structured data extraction form; and were analyzed by a thematic analysis approach. RESULTS: Fifty-nine articles were included, the majority of them were published after 2011 (66%); all of them were from high and upper middle-income countries, especially USA (64% of papers). Fee for services, global budget, capitation (bundled) payments, and pay for performance (P4P) were the main reimbursement methods for dialysis centers; and FFS, salary, and capitation were the main methods to reimburse the nephrologists. Countries have usually used a combination of methods depending on their situations; and their methods have been further developed over time specially from the retrospective payment systems (RPS) towards the prospective payment systems (PPS) and pay for performance methods. The main effects of the RPS were undertreatment of unpaid and inexpensive services, and over treatment of payable services. The main effects of the PPS were cost saving, shifting the service cost outside the bundle, change in quality of care, risk of provider, and modality choice. CONCLUSION: This study provides useful insights about the current payment systems for dialysis and the effects of each payment system; that might be helpful for improving the quality and efficiency of healthcare.


Assuntos
Falência Renal Crônica , Sistema de Pagamento Prospectivo , Humanos , Diálise Renal , Reembolso de Incentivo , Estudos Retrospectivos , Falência Renal Crônica/terapia , Planos de Pagamento por Serviço Prestado
4.
J Res Med Sci ; 28: 80, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38292334

RESUMO

Background: This study aimed to evaluate the severity of alopecia areata (AA) associations with metabolic syndrome, body composition evaluated by bioimpedance techniques, and arterial stiffness based on pulse-wave velocity analysis. Materials and Methods: This cross-sectional study was conducted on patients referred to AA Clinic at Razi Hospital in 2021 and 2022. Patients with AA with the Severity of Alopecia Tool (SALT) score above 20% and receiving no systemic therapy were included. Patient demographic and clinical information, symptoms of metabolic syndrome, and bioimpedance factors were collected, and the relationship between disease severity, metabolic syndrome, and bioimpedance indicators was evaluated. Results: In this study, 59 patients were examined, with 26 (44.07%) being female and 33 (55.93%) being male. The mean age of the patients was 37.42 years (standard deviation [SD] =11.28). The severity of the disease was assessed using the SALT score, with the mean severity in terms of the percentage being 69.83% (SD = 28.57%). In the regression model, SALT score was independently related to the severity of vascular stiffness after adjusting for the effect of other variables (beta = 0.033, 95% CI = 0.009-0.057, P = 0.046). Moreover, SALT score was significantly related to metabolic syndrome after adjusting for the effect of other variables (OR = 1.035, 95% CI = 1.012-1.059, P = 0.002). Conclusion: This study found that AA severity is associated with a higher chance of having metabolic syndrome and arterial stiffness which may lead to cardiovascular diseases in patients with AA, and screening patients regarding cardiometabolic diseases is mandated.

5.
Adv Nutr ; 13(3): 821-832, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35179185

RESUMO

We conducted the present systematic review and meta-analysis to evaluate the association of total protein, animal protein, and animal protein sources with risk of kidney stones in the general population. A literature search was performed in PubMed/Medline, Scopus, and EMBASE up to July 2021. We assessed the credibility of evidence based on NutriGrade scoring system. A total of 14 prospective cohort studies were included. A positive association was observed between higher intake of nondairy animal protein (RR: 1.11; 95% CI: 1.03, 1.20; I2 = 0%, n = 4), total meat and meat products (RR: 1.22; 95% CI: 1.09, 1.38; I2 = 13%, n = 3), and processed meat (RR: 1.29; 95% CI: 1.10, 1.51; I2 = 0%, n = 2) with risk of kidney stones. There was an inverse association between higher intake of dairy protein and risk of kidney stones (RR: 0.91; 95% CI: 0.84, 0.99; I2 = 0%, n = 4). Moreover, each 100-gincrement of red meat intake was significantly associated with increased risk of kidney stones (RR: 1.39; 95% CI: 1.13, 1.71). According to the NutriGrade scoring system, the credibility of evidence for most of the exposures was rated as low. We found some kind of publication bias in the association of animal protein intake and risk of kidney stones, according to Egger's and Begg's tests. In the sensitivity analysis of processed meat as well as dairy consumption with risk of kidney stones we observed in each individual analysis, 1 study changed the overall estimate. Further observational studies are needed to confirm the present results. The protocol of the present study was registered in the International Prospective Register of Systematic Reviews (PROSPERO) database (CRD42021230125: https://www.crd.york.ac.uk/PROSPERO).


Assuntos
Proteínas Animais da Dieta , Cálculos Renais , Carne , Animais , Humanos , Proteínas Animais da Dieta/efeitos adversos , Cálculos Renais/etiologia , Carne/efeitos adversos , Estudos Prospectivos , Fatores de Risco
6.
Blood Press Monit ; 26(5): 385-387, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34074805

RESUMO

OBJECTIVE: Blood pressure (BP) variability is associated with increased mortality in patients with hypertension and heart failure. The aim of our study was to evaluate the effect of cardiac resynchronization therapy (CRT) on different parameters of 24-h ambulatory blood pressure monitoring (ABPM) in patients with hypertension and heart failure. METHODS: Patients with heart failure and hypertension who were candidate for CRT implantation were enrolled in our study. Twenty-four hour ABPM was performed before, and 6 months after CRT implantation. BP variables and average real variability (ARV) were compared in all patients. RESULT: Sixteen consecutive patients entered our study. There was a significant increase in ARV following CRT implantation (P value = 0.009). CONCLUSION: CRT implantation is associated with increased ARV, but the effect of this improvement on cardiovascular outcome needs more investigation.


Assuntos
Terapia de Ressincronização Cardíaca , Insuficiência Cardíaca , Hipertensão , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Insuficiência Cardíaca/terapia , Humanos , Hipertensão/terapia , Resultado do Tratamento
7.
Int Ophthalmol ; 41(3): 1141-1147, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33389366

RESUMO

AIM: The current world has changed in all shapes since the emergence of the novel coronavirus (nCoV-2) also known as COVID-19. Among the extra-pulmonary manifestations of nCoV-2, ophthalmic symptoms have less been systematically studied. The so far existing body of evidence indicates that nCoV-2 has the potential to affect both anterior and posterior chambers of the eye. Albeit, the exact mechanisms which underlie ophthalmic manifestations of nCoV-2 are yet to be elucidated. METHODS: The present brief review is an attempt to put together and highlight the significant yet limited number of studies which have spotlighted ophthalmic issues in nCoV-2 patients using a systematic literature search strategy. RESULTS: All case series or reports (including both published and preprint articles) which described ocular manifestations of patients with COVID-19 and/or documented testing of SARS-COV-2 in ocular secretions via various sampling or detection methods were sought to be included. CONCLUSION: The ophthalmic presentations in SARS-COV-2 are often found to be salient. Raising awareness in this respect may help defining evidencebased protective measures in today's practice of ophthalmology and allied disciplines.


Assuntos
COVID-19/diagnóstico , Infecções Oculares Virais/diagnóstico , SARS-CoV-2/isolamento & purificação , COVID-19/virologia , Infecções Oculares Virais/virologia , Humanos
8.
Blood Press Monit ; 25(6): 351-354, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33074930

RESUMO

OBJECTIVE: Psoriasis is a chronic inflammatory disorder, which is associated with high risk of metabolic comorbidities. Hypertension (HTN) is among the most common and serious associations. In this study, we aimed to evaluate HTN in psoriatic patients through office and ambulatory blood pressure monitoring (ABPM). MATERIALS AND METHODS: Forty-nine patients with confirmed diagnosis of psoriasis were enrolled in the study. Office measurement of blood pressure was performed and then holter monitoring was used for 24-h ABPM. RESULTS: Thirty-six patients (73.4%) had HTN including 13 females (36.1%) and 23 males (63.9%) (P = 0.011). Twelve patients (33.3%) had masked HTN (six females and six males). Office, 24-h, morning, daytime, and nocturnal HTN were present in 49%, 40.8%, 34.7%, 36.7%, and 63.3% of our patients, respectively. The only factor significantly related to morning/daytime/24 h HTN was age, which hypertensive patients had higher age. About 22.4% of patients had metabolic syndrome, which was significantly associated with FBS, weight, waist circumference, and BMI. CONCLUSION: Psoriasis is associated with a high rate of HTN. Masked HTN constitutes nearly one-third of hypertensive patients. ABPM increases the accuracy of HTN detection in psoriatic patients.


Assuntos
Hipertensão , Psoríase , Pressão Sanguínea , Determinação da Pressão Arterial , Monitorização Ambulatorial da Pressão Arterial , Feminino , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Masculino , Psoríase/complicações , Psoríase/diagnóstico , Psoríase/epidemiologia
10.
Medicine (Baltimore) ; 97(38): e12185, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30235664

RESUMO

Ambulatory blood pressure monitoring (ABPM) correlates more closely to organ damages than clinic blood pressure (BP). In the current study we aimed to investigate the association between micro- and macrovascular complications of diabetes and both diurnal and nocturnal variability in BP.A total of 192 patients with type 2 diabetes (T2DM) who had complete data on ABPM were selected. BP categories were defined based on 2017 ACC/American Heart Association BP guideline. The cross-sectional association between different BP phenotypes and diabetes complications including cardiovascular disease (CVD), nephropathy, retinopathy, and neuropathy was assessed using multiple logistic regression models adjusted for age, sex, body mass index, hypertension (HTN), hemoglobin A1c, fasting blood glucose (FBG), triglyceride (TG), high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and total cholesterol.Approximately 48.9% of participants with T2DM had 24-hour HTN. The prevalence of daytime, nighttime, and clinic HTN were 35.9%, 96.3%, and 53.1%, respectively. Approximately 54.2% of participants had nondipping nocturnal pattern and 28.6% were risers. Nondipping nocturnal BP was associated with CVD, neuropathy, and retinopathy (P = .05, .05, and .014, respectively). Sleep trough morning blood pressure surge (MBPS) was associated with neuropathy (P = .023). Neuropathy was also associated with other components of MBPS (P < .05).We demonstrated that diabetic neuropathy was associated with all the components of MBPS and abnormal dipping status. Our results indicated loss of nocturnal BP dipping but not MBPS as a risk factor for CVD and retinopathy in patients with T2DM. Our findings once again highlighted the importance of ambulatory BP monitoring and targeted antihypertensive therapy directed toward to restore normal circadian BP in patients with T2DM.


Assuntos
Monitorização Ambulatorial da Pressão Arterial/estatística & dados numéricos , Ritmo Circadiano , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Hipertensão/epidemiologia , Idoso , Glicemia , Pressão Sanguínea , Índice de Massa Corporal , Pesos e Medidas Corporais , Estudos Transversais , Neuropatias Diabéticas/epidemiologia , Feminino , Hemoglobinas Glicadas , Humanos , Irã (Geográfico)/epidemiologia , Lipídeos/sangue , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , Fatores de Tempo
11.
Am J Med Sci ; 355(5): 442-448, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29753374

RESUMO

BACKGROUND: This study was designed to comparatively assess the effects of add-on pentoxifylline to losartan versus increasing the dose of losartan on serum N-terminal pro-brain natriuretic peptide (NT-proBNP), serum highly sensitive C-reactive protein (hsCRP) and the urinary albumin excretion (UAE) rate in patients with type 2 diabetes and nephropathy. METHODS: In an open-label, single-center, parallel-group, randomized clinical trial (NCT03006952), 30 patients received b.i.d. dose of pentoxifylline 400mg plus daily dose of losartan 50mg (pentoxifylline arm) and 29 patients received b.i.d. dose of losartan 50mg (losartan arm) during a 12-week follow-up period. RESULTS: Serum NT-proBNP, serum hsCRP and UAE levels all significantly decreased from baseline in both trial arms. The pentoxifylline and losartan trial arms were equally effective in reducing serum NT-proBNP levels during the course of trial (multivariable adjusted model P value = 0.864, effect size = 0.2%). There was a greater decrease in UAE and serum hsCRP levels in the pentoxifylline arm (P = 0.034, effect size = 7.8%; P = 0.009, effect size = 11.7%, respectively). Conversely, patients in the losartan arm achieved better systolic and diastolic blood pressure control (P < 0.001, effect size = 25.4%; P = 0.010, effect size = 11.3%, respectively). CONCLUSIONS: Circulating NT-proBNP levels equally and significantly reduced from baseline in the pentoxifylline and losartan treatment arms, in parallel with comparatively superior decreases of UAE and serum hsCRP in the pentoxifylline arm, and larger decreases of systolic and diastolic blood pressures in the losartan arm.


Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Nefropatias Diabéticas/tratamento farmacológico , Losartan/uso terapêutico , Pentoxifilina/uso terapêutico , Fator Natriurético Atrial/sangue , Proteína C-Reativa/análise , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/sangue , Nefropatias Diabéticas/complicações , Quimioterapia Combinada , Feminino , Humanos , Losartan/administração & dosagem , Masculino , Pessoa de Meia-Idade , Pentoxifilina/administração & dosagem , Precursores de Proteínas/sangue , Albumina Sérica Humana/urina , Resultado do Tratamento
12.
Acta Med Iran ; 55(4): 259-264, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28532138

RESUMO

To present a multiple-instructor, active-learning strategy in the undergraduate medical curriculum. This educational research is a descriptive one. Shared teaching sessions, were designed for undergraduate medical students in six organ-system based courses. Sessions that involved in-class discussions of integrated clinical cases were designed implemented and moderated by at least 3 faculties (clinicians and basic scientists). The participants in this study include the basic sciences medical students of The Tehran University of Medical Sciences. Students' reactions were assessed using an immediate post-session evaluation form on a 5-point Likert scale. Six two-hour sessions for 2 cohorts of students, 2013 and 2014 medical students during their two first years of study were implemented from April 2014 to March 2015. 17 faculty members participated in the program, 21 cases were designed, and participation average was 60 % at 6 sessions. Students were highly appreciative of this strategy. The majority of students in each course strongly agreed that this learning practice positively contributed to their learning (78%) and provided better understanding and application of the material learned in an integrated classroom course (74%). They believed that the sessions affected their view about medicine (73%), and should be continued in future courses (80%). The percentage demonstrates the average of all courses. The program helped the students learn how to apply basic sciences concepts to clinical medicine. Evaluation of the program indicated that students found the sessions beneficial to their learning.


Assuntos
Currículo , Educação de Graduação em Medicina , Aprendizagem Baseada em Problemas , Estudantes de Medicina , Humanos , Irã (Geográfico) , Aprendizagem
13.
Clin Exp Nephrol ; 21(2): 342-349, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27206513

RESUMO

BACKGROUND: To investigate the efficacy and safety of oral N-acetylcysteine (NAC) for preserving residual renal function in patients undergoing hemodialysis. METHODS: Randomized, multi-center, parallel-group, open-label clinical trial (Registration No. IRCT 2014071418482N1). 54 patients who have been undergoing hemodialysis for at least 3 months and had residual urine volume >100 ml/24 h were randomly allocated to NAC or no medication. Residual renal function evaluated by (1) estimated glomerular filtration rate (GFR), (2) 24 h urine volume, and (3) renal Kt/V. GFR and Kt/V was determined at baseline and after 3 months. 24 h urine volume was measured at baseline, after 1, 2, and 3 months. RESULTS: Intention-to-treat analysis was performed on 47 patients (NAC = 26, control = 21). GFR in patients receiving NAC improved, whereas in the control arm a decline of 1.0 ml/min/1.73 m2 was recorded (3.59 vs. 2.11 ml/min/1.73 m2, effect size = 17.0 %, p = 0.004). For 24 h urine volume, the between-group difference after 1 month was significant (669 vs. 533 ml/24 h, effect size = 15.4 %, p = 0.004). After 3 months, 24 h urine volume in the NAC arm was on average 137 ml higher than in the control group, and the difference reached near significance (673 vs. 536 ml/24 h, p = 0.072). In the follow-up visit, Kt/V was higher in the NAC arm but the difference did not reach statistical significance (0.81 vs. 0.54, p = 0.152). CONCLUSION: Three months treatment with NAC appears to be effective in preserving renal function in patients undergoing hemodialysis and the medication is generally well-tolerated.


Assuntos
Acetilcisteína/administração & dosagem , Antioxidantes/administração & dosagem , Taxa de Filtração Glomerular/efeitos dos fármacos , Falência Renal Crônica/terapia , Rim/efeitos dos fármacos , Diálise Renal , Acetilcisteína/efeitos adversos , Administração Oral , Idoso , Antioxidantes/efeitos adversos , Feminino , Humanos , Análise de Intenção de Tratamento , Irã (Geográfico) , Rim/fisiopatologia , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/fisiopatologia , Masculino , Pessoa de Meia-Idade , Modelos Biológicos , Diálise Renal/efeitos adversos , Fatores de Tempo , Resultado do Tratamento , Micção/efeitos dos fármacos , Urodinâmica/efeitos dos fármacos
14.
Ren Fail ; 36(5): 682-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24502240

RESUMO

Controlling blood pressure in hemodialysis patients is crucial but not always easy. The most common blood pressure measurement method is peri-dialysis measurement, but due to interdialytic blood pressure fluctuations, we are unsure if it is the proper way for evaluating blood pressure. Some studies have shown the superiority of 24-h ambulatory blood pressure monitoring over peri-dialysis blood pressure measurement. We aimed to compare the consistency of these methods in determining hypertension among hemodialysis patients. We studied 50 patients (mean age: 55.8 years) on regular hemodialysis in Imam Khomeini University Hospital, Tehran, Iran. Peri-dialysis blood pressure and interdialytic 24-h ambulatory blood pressure monitoring were recorded for each patient. Patients' demographic data and peri-dialysis weight were recorded too. All data were analyzed using the PASW Statistics 18.0, SPSS Inc. (Chicago, IL). There was a significant difference between pre-dialysis mean systolic blood pressure (146.1 ± 23.3 mmHg) and mean systolic blood pressure recorded by ambulatory blood pressure monitoring (135.3 ± 19.3 mmHg) (p = 0.001). There was also a significant difference between pre-dialysis mean diastolic blood pressure (83 ± 14 mmHg) and mean diastolic blood pressure recorded by ambulatory blood pressure monitoring (77.3 ± 10 mmHg) (p = 0.003). But the frequencies of hypertension measured with both methods were significantly consistent and the Kappa agreement coefficient was 0.525 (p = 0.001). Considering ambulatory blood pressure monitoring as the gold standard for blood pressure measurement, our recommendation for the best cutoff point to diagnose hypertension, with the highest sensitivity and specificity would be 135/80 mmHg for pre-dialysis blood pressure and 115/70 mmHg for post-dialysis blood pressure.


Assuntos
Monitorização Ambulatorial da Pressão Arterial , Hipertensão/diagnóstico , Falência Renal Crônica/complicações , Diálise Renal , Adulto , Idoso , Idoso de 80 Anos ou mais , Pressão Sanguínea , Estudos Transversais , Feminino , Humanos , Hipertensão/complicações , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Adulto Jovem
15.
Am J Med Genet A ; 127A(3): 307-9, 2004 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-15150785

RESUMO

Congenital total loss of the sense of smell occurs as a part of a syndrome or isolated anosmia. Kallmann syndrome is the most well known congenital anosmia associated with hypogonadotropic hypogonadism. Isolated congenital anosmia (ICA) is a very rare condition and appears to be due to changes in the olfactory epithelium or to aplasia of the olfactory nerve, bulb, and tract. Here we report two unrelated Iranian families with ICA. One family consisted of nine affected members, and the other family contained three affected members. Clinical history, physical examination, and smell testing by intravenous injection of combined vitamins (Alinamin trade mark, Takeda Pharmaceutical Co. Ltd., Japan) confirmed the disease in each affected member. No signs of hypogonadism or other neurological disorders were observed in any affected members. Family analysis with the complete ascertainment method under assumption of the same condition in the two families suggested that the disease is not inconsistent with an autosomal dominant mode with incomplete penetrance. The inheritance in one family appears unusual, i.e., there were no affected individuals in the third generation. When only two upper generations in the family are concerned, the segregation ratio was 0.39 +/- 0.11. Male-to-male transmissions were observed and both sexes were affected in both families. Magnetic resonance imaging (MRI) of the olfactory bulb and sulcus revealed no evidence of morphological changes in all affected members, suggesting that these patients have either a defect in the olfactory epithelium or a functional defect in the olfactory cortex.


Assuntos
Transtornos do Olfato/congênito , Bulbo Olfatório/anatomia & histologia , Feminino , Humanos , Irã (Geográfico) , Imageamento por Ressonância Magnética , Masculino , Transtornos do Olfato/fisiopatologia , Bulbo Olfatório/fisiopatologia , Linhagem
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