scholarly journals Endokrin szövődmények primer immundeficientiában

2018 ◽  
Vol 159 (49) ◽  
pp. 2065-2072
Author(s):  
Zita Halász
Keyword(s):  
Close Association ◽  
Genetic Disorders ◽  
Epidemiological Studies ◽  
Immune Dysregulation ◽  
Endocrine Disturbances ◽  
Endocrine Organs ◽  
Different Types ◽  
Immunodeficiency Syndromes ◽  
Di George Syndrome ◽  
Endocrine Complications

Abstract: Experimental and clinical data suggest a complex interaction between the endocrine and immune systems. However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. It is well documented that there is a close association between immunodeficiency syndromes and the development of autoimmune disorders. Most of the endocrine dysfunctions are caused mainly by immune dysregulation and autoimmunity like in APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) and IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. In these disorders, an immunologically mediated destructive process by autoreactive T cells damages multiple endocrine organs like the thyroid, parathyroid, adrenal cortex and endocrine pancreas. In some other forms of immunodeficiencies, like Di George syndrome, endocrine disturbances are mainly caused by the underlying genetic disorders but autoimmunity may also take part in the process. The aim of this paper is to give an overview of the different forms of endocrine disturbances and their pathological background in APECED and IPEX syndromes, Di George syndrome and ataxia telangiectasia. Orv Hetil. 2018; 159(49): 2065–2072.

Endocrine Complications of Cystic Fibrosis: A Multisystem Disease of the Endocrine Organs

2019 ◽  
Vol 40 (06) ◽  
pp. 810-824
Author(s):  
Katie Larson Ode ◽  
Christine L. Chan ◽  
Andrea Granandos ◽  
Melissa Putman ◽  
Amir Moheet
Keyword(s):  
Cystic Fibrosis ◽  
Pulmonary Disease ◽  
Genetic Disorders ◽  
The Body ◽  
Health Issues ◽  
Multisystem Disease ◽  
Great Opportunity ◽  
Endocrine Organs ◽  
The Impact ◽  
Endocrine Complications

AbstractCystic fibrosis (CF) is one of the most common life-limiting genetic disorders. Although CF is typically considered primarily as a pulmonary disease, the CF conductance transmembrane regulator is present throughout the body. From an endocrine perspective, this multisystem disease manifests primarily in the pancreas as a unique form of diabetes (CF-related diabetes mellitus), as bone disease, and as reproductive health issues in people with CF. These complications have become ever more concerning to people with CF as treatment for pulmonary disease improves and lifespans lengthen, increasing the impact of nonpulmonary complications. Our understanding of the management of these concerns continues to evolve, and, although there are some effective treatments, there is great opportunity for continued investigation into the pathophysiology of the endocrine complications of CF and their treatment.

Weight reduction in the management of hypertension: Epidemiologic and mechanistic evidence

1986 ◽  
Vol 64 (6) ◽  
pp. 818-824 ◽  
Author(s):  
Efrain Reisin
Keyword(s):  
Blood Pressure ◽  
Weight Loss ◽  
Weight Control ◽  
Sodium Intake ◽  
Close Association ◽  
Peripheral Resistance ◽  
Volume Ratio ◽  
Epidemiological Studies ◽  
Left Ventricular ◽  
Normal Weight

A number of studies have established a close association between increased body mass and elevated blood pressure. The presence of obesity in hypertensive subjects is associated with some hemodynamic, metabolic, and endocrinic characteristics: an increased intravascular volume with a high intracellular body water/interstitial fluid volume ratio, increased cardiac output, stroke volume, and left ventricular work while peripheral resistance was reduced or normal. Weight loss of at least 10 kg can reduce blood pressure independently of changes in sodium intake in obese persons of both sexes with mild, moderate, or severe high blood pressure. The fall in arterial pressure in obese hypertensives after weight loss may reverse many of the previously mentioned altered findings and underscore previous epidemiological studies that have shown that weight control could be an important measure in the treatment of hypertension.

scholarly journals Summary of Utah Project on Exfoliation Syndrome (UPEXS): using a large database to identify systemic comorbidities

2021 ◽  
Vol 6 (1) ◽  
pp. e000803
Author(s):  
Christian James Pompoco ◽  
Karen Curtin ◽  
Samuel Taylor ◽  
Chase Paulson ◽  
Caleb Shumway ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Lysyl Oxidase ◽  
Genetic Disorders ◽  
Epidemiological Studies ◽  
Pelvic Organ ◽  
Chronic Obstructive ◽  
Exfoliation Syndrome ◽  
Population Database ◽  
Obstructive Sleep ◽  
Increased Risk

The purpose of the Utah Project on Exfoliation Syndrome (UPEXS) is to identify associations between exfoliation syndrome (XFS) and other diseases that share the commonality of abnormalities in elastin and Lysyl Oxidase-Like 1 gene regulation. The UPEXS is unique because it uses the Utah Population Database, which is linked to the Utah genealogy, that contains a compilation of large pedigrees of most families in the state of Utah that go back multiple generations (3 to ≥11). The health and medical records of these family members are linked to vital records and can be used effectively in studies focused on genetic disorders like XFS, where familial clustering of a disorder is a trend. There is increasing evidence that patients with XFS have a higher risk of certain systemic disorders that reflect the systemic tissue abnormalities of XFS. Epidemiological studies focused on patients with XFS have shown that there is an increased risk of these individuals developing other pathologies that have abnormalities in extracellular matrix metabolism and repair. UPEXS has focused on suspected comorbidities that involve abnormalities in elastin maintenance, a protein that plays a role in the makeup of the extracellular matrix. In this paper, the results from the analysis of chronic obstructive pulmonary disease, inguinal hernias, pelvic organ prolapse, obstructive sleep apnoea and atrial fibrillation are summarised along with the utility of using such a large dataset.

The teratogenic effects of hydrocortisone on palatal development in the hamster

Development ◽  
1976 ◽  
Vol 35 (1) ◽  
pp. 213-224
Author(s):  
Ravindra M. Shah ◽  
Anthony A. Travill
Keyword(s):  
Cleft Palate ◽  
Close Association ◽  
Fetal Growth Retardation ◽  
Placental Barrier ◽  
Teratogenic Effects ◽  
Different Types ◽  
Palatal Development ◽  
Two Peaks ◽  
Different Doses ◽  
Hydrocortisone Treatment

The effect of different doses of hydrocortisone, administered at various times during gestation, on the fetal hamster and its palatal development was studied. Both the frequency of cleft palate and that of resorption depended upon the dose of hydrocortisone and the time of its administration. Two peaks in the incidence of cleft palate were observed, which appeared to be due to inhibition of different events. Incidence of morphologically different types of cleft palate was related to the doses and gestational time of hydrocortisone treatment. A close association was observed between the frequency of cleft palate and fetal growth retardation and between the latter and the dose and time of drug administration. It was suggested that maternal physiology and the placental barrier may play a crucial role in cleft palate induction.

scholarly journals Acute dystonia in a patient with 22q11.2 deletion syndrome

2015 ◽  
Vol 7 (2) ◽  
Author(s):  
Konstantinos Kontoangelos ◽  
Antonis Maillis ◽  
Maria Maltezou ◽  
Sofia Tsiori ◽  
Charalambos C. Papageorgiou
Keyword(s):  
Genetic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Immune Dysfunction ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
Facial Appearance ◽  
22Q11.2 Deletion ◽  
Antipsychotic Medications ◽  
Recommended Treatment ◽  
Di George Syndrome

The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dystonic symptoms.

scholarly journals Dietary Flavonoids as Cancer Chemopreventive Agents: An Updated Review of Human Studies

Antioxidants ◽  
2019 ◽  
Vol 8 (5) ◽  
pp. 137 ◽  
Author(s):  
Carmen Rodríguez-García ◽  
Cristina Sánchez-Quesada ◽  
José J. Gaforio
Keyword(s):  
Epidemiological Studies ◽  
Population Based ◽  
Chemopreventive Agents ◽  
Dietary Polyphenols ◽  
Different Types ◽  
Flavonoid Intake ◽  
Global Goal ◽  
Dietary Flavonoid ◽  
Vegetables And Fruits ◽  
Dietary Flavonoids

Over the past few years, interest in health research has increased, making improved health a global goal for 2030. The purpose of such research is to ensure healthy lives and promote wellbeing across individuals of all ages. It has been shown that nutrition plays a key role in the prevention of some chronic diseases such as obesity, cardiovascular disease, diabetes, and cancer. One of the aspects that characterises a healthy diet is a high intake of vegetables and fruits, as both are flavonoid-rich foods. Flavonoids are one of the main subclasses of dietary polyphenols and possess strong antioxidant activity and anti-carcinogenic properties. Moreover, some population-based studies have described a relationship between cancer risk and dietary flavonoid intake. In this context, the goal of this review was to provide an updated evaluation of the association between the risk of different types of cancers and dietary flavonoid intake. We analysed all relevant epidemiological studies from January 2008 to March 2019 using the PUBMED and Web of Science databases. In summary, this review concludes that dietary flavonoid intake is associated with a reduced risk of different types of cancer, such as gastric, breast, prostate, and colorectal cancers.

Prevalence of Dystonia in Antioquia, Colombia

2016 ◽  
Vol 46 (2) ◽  
pp. 137-143 ◽  
Author(s):  
Juan Marcos Solano Atehortúa ◽  
Sandra Patricia Isaza Jaramillo ◽  
Ana Rendón Bañol ◽  
Omar Buritica Henao
Keyword(s):  
Epidemiological Studies ◽  
Demographic Characteristics ◽  
Linear Modeling ◽  
Delay In Diagnosis ◽  
True Prevalence ◽  
High Prevalence ◽  
The World ◽  
Different Types ◽  
Capture Recapture ◽  
Log Linear

Background: There are few published epidemiological studies concerning dystonia. Its true prevalence has been difficult to establish. There is no data published in Latin America on this matter. Methods: In this study the prevalence of dystonias in the Department of Antioquia (Colombia) was estimated using a capture-recapture methodology with log-linear modeling, including cases in 3 centers for neurological referrals that cover the Department of Antioquia from 2007 to 2012. Results: The overall prevalence was 712 per 1,000,000 (95% CI 487-937). Of the total of 874 patients, 79% had primary dystonias, and 75.5% had focal dystonias. The delay in diagnosis was longer for primary dystonias, with a median of 1 year. Conclusion: We found a high prevalence of dystonias in Antioquia. The frequency of the different types of dystonias, as well as the demographic characteristics of our patients, is similar to data from other populations of the world.

Toxic consumption among patients suffering delusional disorder

2016 ◽  
Vol 33 (S1) ◽  
pp. S375-S376
Author(s):  
C.M. Carrillo de Albornoz Calahorro ◽  
A. Porras ◽  
M. Guerrero ◽  
J. Cervilla Ballesteros
Keyword(s):  
Cannabinoid Receptors ◽  
Digital Health ◽  
Epidemiological Studies ◽  
Delusional Disorder ◽  
Psychotic Symptoms ◽  
Case Register ◽  
Dsm 5 ◽  
Different Types ◽  
Competing Interest ◽  
Do So

IntroductionSeveral epidemiological studies describe the association between substance abuse and appearance of psychotic symptoms. There is a higher prevalence of psychotic symptoms among cannabis and cocaine consumers compared to the general population.The cannabinoid receptors regulate the release of dopamine and cocaine has a strong inhibitory action on reuptake of the same. This may explain the greater proportion of subjects moderately or heavily dependent on cocaine or cannabis experience symptoms of psychotic sphere.Objectives/AimsDescribing the profile of drug consumption among a group of patients diagnosed with delusional disorder.MethodsOur data come from a case register study of delusional disorder in Andalucía (Spanish largest region). By accessing digital health data, we selected 1927 cases who meet criteria DSM 5 for delusional disorder collecting different toxic consumption habits.ResultsIt was found that 1070 (93.4%) of patients diagnosed as delusional disorder according DSM 5 did not consume cannabis, compared to 75 (6.6%) who do so. Among patients diagnosed as “other psychoses”, 243 (85%) did not use drugs and 43 (15%) consume other drugs of different types of cannabis.ConclusionIn our sample, we found that the use of drugs such as cannabis and cocaine is less common among patients diagnosed with delusional disorder compared with other individuals diagnosed as “other psychosis”.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Nutritional Status and Immune Functions in Maintenance Hemodialysis Patients

2006 ◽  
Vol 2006 ◽  
pp. 1-4 ◽  
Author(s):  
Hayriye Sayarlioglu ◽  
Reha Erkoc ◽  
Cengiz Demir ◽  
Ekrem Dogan ◽  
Mehmet Sayarlioglu ◽  
...  
Keyword(s):  
Nutritional Status ◽  
Clinical Importance ◽  
Dry Weight ◽  
Epidemiological Studies ◽  
Immune Dysregulation ◽  
Hemodialysis Patients ◽  
Maintenance Hemodialysis ◽  
Immune Functions ◽  
Means Of Measurement ◽  
The Relationship

Epidemiological studies suggest various kinds of immune dysregulation in hemodialysis (HD) patients. The aim of this study was to investigate the relationship between immune functions and nutritional status of HD patients. We studied 54 patients with ESRD on chronic HD, included 34 females and 20 males with mean age46.6±16.3(18–77) years. We measured the height and dry weight of all patients. The BMI was calculated by dividing weight (kg) by height squared (m2). In all patients serum urea, creatinine, albumin, iron, cholesterol, triglyceride, CRP, IgG, IgM, IgA, CD4, CD8, CD19, CD16-56 lymphocytes were measured. Kt/V values were calculated according to DOQI guideline. In this study, a positive correlation between albumin, cholesterol, and triglyceride levels as nutritional parameters and immune functions in terms of total and subtype lymphocyte counts was observed. Further prospective studies are needed to determine the clinical importance of this finding and the appropriate means of measurement and effects of nutrition on immune function in hemodialysis patients.

scholarly journals Is a High HDL-Cholesterol Level Always Beneficial?

Biomedicines ◽  
2021 ◽  
Vol 9 (9) ◽  
pp. 1083
Author(s):  
Beata Franczyk ◽  
Jacek Rysz ◽  
Janusz Ławiński ◽  
Magdalena Rysz-Górzyńska ◽  
Anna Gluba-Brzózka
Keyword(s):  
Myocardial Infarction ◽  
Cardiovascular Disease ◽  
Genetic Disorders ◽  
Hdl Cholesterol ◽  
Epidemiological Studies ◽  
Specific Interest ◽  
Peripheral Tissues ◽  
Causative Relationship ◽  
Ischemic Attack ◽  
And Function

The specific interest concerning HDL cholesterol (HDL-C) is related to its ability to uptake and return surplus cholesterol from peripheral tissues back to the liver and, therefore, to its role in the prevention of cardiovascular diseases, such as atherosclerosis and myocardial infarction, but also transient ischemic attack and stroke. Previous epidemiological studies have indicated that HDL-C concentration is inversely associated with the risk of cardiovascular disease and that it can be used for risk prediction. Some genetic disorders are characterized by markedly elevated levels of HDL-C; however, they do not translate into diminished cardiovascular risk. The search of the potential causative relationship between HDL-C and adverse events has shifted the attention of researchers towards the composition and function of the HDL molecule/subfractions. HDL possesses various cardioprotective properties. However, currently, it appears that higher HDL-C is not necessarily protective against cardiovascular disease, but it can even be harmful in extremely high quantities.

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