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Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity. Some patients have strabismus, myopia, optic atrophy, and total blindness. A small number of cases present with heart defects or mitral valve prolapse. Only approximately 100 cases have been reported in the world literature. The administration of general anesthesia in patients with Cohen syndrome can be a challenge because most of these patients are mentally retarded and uncooperative and have facial malformations that may make intubation difficult. We present our experience with the anesthetic management of a patient with Cohen syndrome.
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PMID:The anesthetic management of a patient with Cohen syndrome. 1533 97

Non syndromic forms of Retinitis Pigmentosa (RP) constitute a collection of clinically and genetically heterogeneous inherited retinal degenerative diseases. They are characterized by a bilateral progressive visual loss susceptible to cause blindness. These diseases are transmitted through pedigrees according to all known modes of inheritance. They are bilateral and usually start during infancy. However, very early clinical presentations exist, such as those observed in children affected by Leber Congenital Amaurosis, as well as late onset autosomal dominant forms of retinitis pigmentosa. The characteristic clinical aspect of the rod-cone RP dystrophies is marked by alterations of the peripheral retina associated with a night blindness and a progressive narrowing of the visual field. The ophthalmoscopic examination of RP patients commonly reveals thin retinal arteries and scattered pigmentary accumulations. In contrast, there are cone rod retinal dystrophies whose onset is marked by a decreased visual acuity before the appearance of any visual field alteration. Some forms of RPs display an ocular fundus devoid of any pigmentary alteration. Syndromic forms of RPs are not uncommon. The association of deafness with RP is detected in nearly 30% of the patients. Other associations with RP can include mental deficiency, facial dysmorphy, microcephaly, obesity, kidney deficiency, immune deficiencies, metabolic disorders. The existence of such syndromic forms of RP localizes RPs at the crossroad of several medical specialties. A long lasting collaboration between our department of ophthalmology and the department of medical genetics of the Necker-Sick Children Hospital has allowed us to establish numerous genotype-phenotype correlations, especially in LCA and Stargardt's disease. ABCR gene mutations cause Stargardt disease. ABCR mutations may also cause some types of Ages Related Macular Degenerations (AMD). Nowadays, there is no known efficient therapy available for patients affected by RP. Gene therapies hold promises of treatment for patients affected by some of these diseases for the next decade. In a not too far future, the use of pharmacological drugs increasing a better intracellular oxygen availability, without triggering any harmful production of free radical oxygen species (ROS), while exerting an anti-apoptotic effect within photoreceptor cells, appears to be a therapeutical strategy deserving to be tested in an appropriately designed clinical trial. For the present time, optical and electronical devices as well as night-vision glasses are the only possible tools allowing to improve the quality of life of some patients.
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PMID:[Early therapeutic trials for retinitis pigmentosa]. 1536 38

Until recently, the majority of cases of diabetes mellitus among children and adolescents were immune-mediated type 1a diabetes. Obesity has led to a dramatic increase in the incidence of type 2 diabetes (T2DM) among children and adolescents over the past 2 decades. Obesity is strongly associated with insulin resistance, which, when coupled with relative insulin deficiency, leads to the development of overt T2DM. Children and adolescents with T2DM may experience the microvascular and macrovascular complications of this disease at younger ages than individuals who develop diabetes in adulthood, including atherosclerotic cardiovascular disease, stroke, myocardial infarction, and sudden death; renal insufficiency and chronic renal failure; limb-threatening neuropathy and vasculopathy; and retinopathy leading to blindness. Health care professionals are advised to perform the appropriate screening in children at risk for T2DM, diagnose the condition as early as possible, and provide rigorous management of the disease.
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PMID:Childhood obesity and type 2 diabetes mellitus. 1606 6

Obesity is the most prevalent metabolic disease in developed countries and its prevalence rates worldwide are increasing rapidly. The disease is associated with a considerably enhanced morbidity in many body systems as well as mortality. This article reviews the effects of obesity on the four major blinding eye diseases: age-related macular degeneration, diabetic retinopathy, cataract and glaucoma, and shows that obesity is a significant risk factor for these diseases and hence to blindness.
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PMID:[Obesity is a risk factor for eye diseases]. 1635 58

Our simple definition of ethics is good thought, speak and action. Epistemology means the hypothesis of facts about thought, speech and action. Medical practice is all means of medicine. Medicine classifies people into normal and abnormal. The abnormal are the sick. They loose some organs or those normal looking organs are dysfunctional. They are social problems, some can be treated, and some do not get the appropriate care. The problems of society of normal people are overeating and obesity, abortion, drug abuse, promiscuity, torture, terrorism, disobeying rules and order, corruption, brain-washing and unethical advertisements, etc. On the other hand, the social problems of the abnormal are down, deafness, blindness, dumb, hypertension, hypercholesterolemia, diabetes mellitus and cancer, etc. An example of the social-doctor problem is the mal distribution of doctors in rural areas. It was reported by the ministry of public health that the ratio of doctor to population to be 1:800 in Bangkok and 1:5, 700 in some rural areas in the north eastern part of Thailand. The doctors, themselves, are at a high grade of worker and intelligent quotient. They know all the problem and, at the same time, create problems, both, faster than the general population can do. It affects good and bad in the society. In the past, present and the foreseeable future the medical students get their studies in the western style. Their medical schools are situated in big cities. These schools are old and famous. They learn their medical procedure in a big hospital of more than 400 beds in the inpatient department wards. Their instructors and professors are highly qualified, are middle class people and well accepted in the society. Their families are lovely and warm. Their children study in the first class schools in town. The medical students feel very happy and appreciate seeing their professors in television routinely at prime time. In conclusion, their professors are an example of role model for them to follow. Everyone looks for security in her/his profession. Facts need no proof and reference. People with justice in mind should believe and understand the above mentioned. This leads to the problem of mal distribution of doctors in rural areas, why do doctors live in big cities or wish to be in the private sector? In fact, not many a number of doctors serve in the rural area. About 4-5 of them, their name will be announced yearly as the best rural doctor award. After the big ceremony, lasted not longer than a month, it is hard to remember their name. They are proud to be praised, it pushes them into stress intentionally with all the best of their intelligence and the total of their body strength to work harder in rural. Unfortunately their earning, the security of their profession, the increased chance of being sued, to get caught in the medical litigation, the expenses of their family social status and the study of their children cannot be compared to of those doctors in big city and/or in the private sector. Mal distribution of doctors in remote rural areas has been a persisting unresolved problem in many parts of the world, why not apply the principles of ethics and epistemology? They have been left, untouched forever.
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PMID:Ethics and the comprehensive application of epistemology in medical practice. 1651 4

The metabolic syndrome consists of a combination of cardiovascular risk factors that include hyperglycemia with or without type 2 diabetes mellitus, visceral obesity, elevated blood pressure, and atherogenic dyslipidemia. These interrelated disorders and their associated lipotoxicity, oxidative stress, and inflammatory state predispose to a constellation of cardiovascular conditions leading to high risk of heart attack, stroke, renal failure, blindness, and lower extremity amputation. Visceral obesity, a prime risk factor for type 2 diabetes and a major component of the metabolic syndrome, potentiates atherogenesis, atherosclerosis, organ lipotoxicity, and oxidative tissue damage.Peroxisome proliferator-activated receptors (PPARs) are relatively recently discovered nuclear transcription factors that are modulated by dietary fatty acids, including the essential polyunsaturated fatty acids, arachidonic acid and its metabolites, and are essential to the control of energy metabolism. Of the three PPAR isoforms (alpha, gamma, and delta), synthetic pharmaceutical ligands that activate PPARalpha (the antidyslipidemic fibric acid derivatives ['fibrates']) and PPARgamma (the antidiabetic thiazolidinediones) have been studied extensively. Recently developed dual PPARalpha/gamma agonists may combine the therapeutic effects of these drugs, creating the expectation of greater efficacy, and perhaps other advantages in the treatment of type 2 diabetes and the metabolic syndrome. However, thiazolidinediones are hampered by adverse effects related to increased weight gain and fluid overload. It remains to be seen whether the dual PPARalpha/gamma agonists currently under development have similar limitations. Nevertheless, existing clinical data imply that the combined effects of thiazolidinediones and fibrates are likely to be emulated by dual PPARalpha/gamma agonists, providing superior efficacy to these classes for the treatment of type 2 diabetes, the metabolic syndrome, and their cardiovascular and other end-organ complications.
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PMID:Dual Peroxisome Proliferator-Activated Receptor-alpha/gamma Agonists : In the Treatment of Type 2 Diabetes Mellitus and the Metabolic Syndrome. 1654 49

The number of people with diabetes is increasing dramatically worldwide. The rising prevalence of obesity in childhood and adolescence has also been linked to a startling increase in the number of diagnosed cases of type 2 diabetes in these younger age groups. Despite the introduction of treatment strategies, diabetes remains a major cause of new-onset blindness, end-stage renal disease, and lower leg amputation, all of which contribute to the excess morbidity and mortality in people with diabetes. Furthermore, the management of diabetes-related complications generates substantial costs. In order that timely treatment can be given, it is essential that patients at risk for the development of diabetic microvascular complications are identified earlier. Diabetes duration and glycemic, blood pressure, and lipid control have consistently been shown to correlate with diabetic retinopathy, neuropathy, and nephropathy, but to date, the relationship of one diabetic microvascular complication to another has not been clearly described. A review of the literature has raised the question that apart from other known risk factors, there is a possible relationship among the diabetic microvascular complications themselves, and this appears to be much stronger than the sparse published data on it would suggest. A scoring system that can predict the development of diabetic microvascular complications may facilitate the early identification of those patients at risk and, consequently, have a positive impact on patients' quality of life and reduce the economic burden of diabetes and its complications.
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PMID:Diabetic microvascular complications--can the presence of one predict the development of another? 1679 74

A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly, obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival.
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PMID:Bardet-Biedl syndrome presenting with end stage renal failure. 1682 64

The Centers for Disease Control and Prevention estimate that 6% of the US population meets diagnostic criteria for diabetes mellitus, with at least one third of this group being undiagnosed. A majority of adult blindness, renal insufficiency, and limb amputation may be directly attributed to diabetes. Although the incidence of type 1, autoimmune-mediated diabetes remains relatively stable, increasing age, physical inactivity, and obesity have produced explosive growth in insulin resistance and type 2 diabetes. A direct association between diabetes and atherothrombotic disease remains indisputable. However, recent data further suggest that even minor elevations of fasting plasma glucose, in "nondiabetic" subjects, increase cardiovascular risk. Alterations in hemostasis may play an important contributory role. Both hyperglycemia and hyperinsulinemia induce prothrombotic characteristics, including overexpression of vascular endothelial plasminogen activator inhibitor-1 (PAI-1), down-regulation of fibrinolysis, elevation of plasma coagulation proteins (ie, fibrinogen, factor VII, factor X), and enhanced platelet activation. Furthermore, endothelial dysfunction-characterized by an inflammatory phenotype-commonly accompanies diabetes. Given data supporting prothrombotic potential of both acute and chronic hyperglycemia, aggressive perioperative glucose control appears imperative.
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PMID:Hemostasis and glycemic control in the cardiac surgical patient. 1695 46

The incidence and prevalence of diabetes have reached epidemic proportions worldwide. The reasons for the pandemic are the sharp rise in obesity, decline in physical activity and the increase in life expectancy. There are some 400,000 people with diagnosed diabetes in Israel and they are at a markedly increased risk for cardiovascular disease, blindness, end-stage renal disease and lower limb amputation. To effectively lower this significantly increased burden of disease, a comprehensive multidisciplinary approach to chronic disease management is required. To facilitate such an approach, the Israel Diabetes Association published a guideline for the diagnosis, prevention and treatment of diabetes. The guideline, based on the ADA (American Diabetes Association) and IDF (International Diabetes Federation) guidelines, was approved by other national professional societies including hypertension, family practice, obesity, nephrology, atherosclerosis and internal medicine. The guidelines highlight the metabolic syndrome and prediabetic states, interventions for the prevention of diabetes, the new definitions of diabetes and impaired glucose metabolism and the newly defined targets for glucose, lipid, cholesterol and blood pressure control. In addition, the recommendations for periodic review and screening for complications are summarized. The need for patient education and empowerment are emphasized as is the need for the development and implementation of unique tools including computerized treatment flow-charts, prompts and quality measures, for the long term management of a complex metabolic disease.
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PMID:[The guidelines for the diagnosis prevention and treatment of type 2 diabetes mellitus--2005]. 1698 42


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