Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of necrotizing amebic pancolitis in a 6-year-old boy with asplenia, partial situs inversus, and cyanotic congenital heart disease is reported and the literature is reviewed briefly. Our patient was managed successfully by prompt colectomy, ileostomy, a Stamm gastrostomy, and extensive drainage of the peritoneal cavity with administration of metronidazole postoperatively and prolonged jugular vein Broviac catheter hyperalimentation. This child may be the first survivor of total colonic amebic necrosis in childhood. Necrotizing amebic colitis appears to be more hazardous in infancy and childhood than in adult years. Malnutrition and additional illnesses and malformations may produce greater immunocompromise in the very young, placing them at greater risk for the ultimate of amebic intestinal complications, total colonic necrosis and disintegration.
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PMID:Colectomy for necrotizing amebic pancolitis in early childhood with survival. 268 61

A nondigitalized patient without heart disease, but with ulcerative colitis on parenteral hyperalimentation, developed ventricular tachycardia in association with hypomagnesemia. Magnesium infusions were successful in suppressing the arrhythmia, but because of ongoing fecal losses, hypomagnesemia and ventricular tachycardia recurred each time the infusion was stopped. After total colectomy, the patient remained normomagnesemic and free of arrhythmias. The few previous descriptions of arrhythmias attributed to hypomagnesemia in nondigitalized patients are reviewed. The importance of recognizing hypomagnesemia as an easily reversible cause of arrhythmias is stressed.
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PMID:Hypomagnesemia and ventricular tachycardia: a complication of ulcerative colitis and parenteral hyperalimentation in a nondigitalized noncardiac patient. 679 55

Prader-Willi syndrome is characterized by hypotonia and feeding difficulties in the neonatal period, with the childhood development of hyperphagia leading to obesity, developmental delay, hypogonadism, short stature and small hands and feet. Correct diagnosis of Prader-Willi syndrome is important because of its clinical implications and the need for family genetic counseling. In order to determine the most efficient method of diagnosing the condition, we evaluated 37 patients with a putative diagnosis of Prader-Willi syndrome by both clinical and molecular cytogenetic analyses. Clinical evaluation showed that 25 patients fulfilled the diagnostic criteria for Prader-Willi syndrome. A deletion of the region 15q11.2-13 was cytogenetically identified in 20 patients using a high-resolution technique. Four additional cases were detected by fluorescence in situ hybridization (FISH) with the cosmid probes for D15S11, r-aminobutyric acid receptor beta 3 (GABRB3), small nuclear ribonucleoprotein-associated peptide N (SNRPN) or D15S10 (Prader-Willi/ Angelman syndrome region probes). The deletion of SNRPN was documented in 24 Prader-Willi syndrome patients. Only one additional patient with typical Prader-Willi syndrome features did not have any deletion over 15q11-13 at either the cytogenetic or molecular level. FISH provides a more reliable method than high-resolution chromosome analysis for the diagnosis of Prader-Willi syndrome. Associated conditions such as hypopigmentation, small-joint laxity, arachnodactyly, seizure disorder, optic atrophy, congenital heart disease, Perthes' disease, hirsutism, astigmatism/amblyopia, microcephaly and neuropsychiatric disturbances dictate the effects of a contiguous gene syndrome. Morbidity is high among patients with obesity and associated conditions. Appropriate genetic counseling should be given to the parents and dietary management should be helpful for patients with Prader-Willi syndrome.
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PMID:Prader-Willi syndrome: clinical and molecular cytogenetic investigations. 877 55

The disease is named after George H. Whipple who, in 1907, was the first to describe an intestinal "lipodystrophy". Although Whipple's disease is generally recognized as a multisystem chronic granulomatous disease, primarily involving the digestive system, it can also appear as a primary neurological disorder in rare cases. Most often it is manifested with loss of weight, diarrhea, malabsorption, abdominal pain, lymphadenopathy, cardiopathy, hyperpigmentation and hypotension. The presence of periodic acid-Schiff (PAS)-positive macrophages in biopsy specimens (not only jejunal) and demonstration of "Whipple's bacilli" visible by electron microscopy, are diagnostic signs of active Whipple's disease. Whipple's disease confined to the CNS is rare. It is rarely found in the differential diagnosis of patients with progressive neurological deterioration. The most common neurological picture includes progressive dementia, external ophalmoplegia, myoclonus, seizures, ataxia, hypothalamic dysfunction (sleep disorders, hyperphagia, polydipsia) and meningitis. Oculofacial-skeletal myorhythmia as a movement disorder, associated with Whipple's disease, is reported. Fulminant course of cerebral Whipple's disease is unusual and unfavourable. The confusing and nonspecific clinical appearance is typical for primary CNS involvement. It has recently been suggested that CNS involvement occurs in all cases, although only 10-20% of patients may show it. The CNS is the most common site of disease relapse. The CT scans and MRI of the brain are often normal, but may show cortical/subcortical atrophy, hydrocephalus, focal or intracerebral mass lesions. The cerebrospinal fluid can sometimes contain PAS-positive macrophages. Brain biopsy is suggested as a diagnostic method in cases of high suspicion of CNS Whipple's disease. However, the lesions are frequently inaccessible and false negative. Without extended antibiotic therapy, the course of Whipple's disease is lethal. Now, the prognosis is good, although the optimal antimicrobial regimen is not clearly established. Initial parenteral therapy (tetracycline, penicilline, streptomycine, chloramphenicol, ampicilline) and peroral long-term treatment with trimetoprime-sulphametoxasole, are recommended. As CNS relapse of Whipple's disease may occur after several years, long-term treatment should include antibiotics that are able to cross the blood-brain barrier. The CNS relapse, in contrast to the systemic ones, is resistant to the treatment. Appropriate therapy instituted earlier in the course of the disease is associated with a better neurological outcome. Early recognition can be critical in Whipple's disease because of irreversible neurological sequelae seen later in the course of this potentially treatable condition. In cases with high clinical suspicion in which Whipple's disease cannot be diagnosed with procedures such as jejunal biopsy, antibiotic therapy is recommended. Recovery of an established neurological deficit may rarely occur. Longterm follow-up studies would help to identify the optimal antibiotic regimen and duration of treatment.
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PMID:[Neurologic disorders in Whipple's disease]. 910 28

Hyperphagia (overeating) is often associated with energy over-storage and obesity, which may lead to a myriad of serious health problems, including heart disease, hypertension, and type 2 diabetes. Thus, understanding the complex pathological mechanisms underlying hyperphagia and obesity has an important clinical significance. Leptin, or ob protein, is a key element in the long-term regulation of food intake and body weight homeostasis. It circulates in the blood at levels correlated with body fat mass. Leptin binds to specific receptors in the hypothalamus to mediate events that regulate feeding behavior. In light of new evidence, the initial view that leptin is an adipocyte-derived signal, which acts centrally to decrease body weight, has been modified. It has been shown that leptin may also have specific functions in the gastrointestinal tract, suggesting that feeding and energy homeostasis is regulated by both central and peripheral signals. Evidence supports the view that leptin integrates short-term, meal-related signals from the gut into long-term regulation of energy balance. In addition, the gastric leptin level is altered by the nutritional state and the administration of cholecystokinin. This commentary aims to review the evidence of the role of leptin as a peripherally acting signal in the gut in the regulation of nutrient intake, adiposity, and body weight. Based on currently available data, some potential future studies are suggested.
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PMID:Leptin, gut, and food intake. 1200 60

Traditional cardiology has taken a mechanistic approach to heart disease. But the new discipline of behavioral cardiology takes a broader view, concluding that heart disease is not inevitable, but develops largely from unhealthy lifestyles, such as smoking, overeating and physical inactivity, and from psychosocial stress. Physical inactivity and excessive caloric intake are also responsible for the epidemic of obesity, which is associated with a dramatic increase in the prevalence of diabetes. This increase in the incidence of diabetes may, in turn, reverse the recent decline of cardiovascular deaths in the US. A variety of psychosocial stressors have been implicated in the development of cardiovascular disease. These include occupational stress, anxiety, social isolation, hostility, anger, and type A behavior. There is clearly some overlap between these stressors, all of which may affect the heart adversely. Both the lifestyle and psychosocial factors can be altered by behavioral treatment, in which the patient and the practitioner work together. Unfortunately, various barriers can impair the successful implementation of behavioral treatment. These barriers include poor compliance by the patient, lack of skill in providing effective interventions by the health care provider, and lack of incentives within the health care system, particularly reimbursement.
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PMID:Behavioral cardiology --has its time finally arrived? 1263 2

A case is reported of isolated native tricuspid calve Candida parapsilosis endocarditis (INTVCE) in a male patient with no history of drug abuse or heart disease. The patient had received hyperalimentation and antibiotics for four months via a central venous catheter after abdominal surgery. He underwent successful treatment with tricuspid valve debridement, liposomal amphotericin (AmBisome) and fluconazole, and remained without relapse during an eight-year follow up. A literature review of 12 similar cases (including the present patient) without history of drug abuse or heart disease, dating from 1970, is included.
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PMID:Isolated native tricuspid valve Candida endocarditis in a non-drug-addicted patient: case report and review of the literature. 1456 21

Peroxisome proliferator-activated receptors (PPAR alpha, beta/delta and gamma) play a key role in metabolic regulatory processes and gene regulation of cellular metabolism, particularly in the cardiovascular system. Moreover, PPARs have various extra metabolic roles, in circadian rhythms, inflammation and oxidative stress. In this review, we focus mainly on the effects of PPARs on some thermodynamic processes, which can behave either near equilibrium, or far-from-equilibrium. New functions of PPARs are reported in the arrhythmogenic right ventricular cardiomyopathy, a human genetic heart disease. It is now possible to link the genetic desmosomal abnormalitiy to the presence of fat in the right ventricle, partly due to an overexpression of PPARgamma. Moreover, PPARs are directly or indirectly involved in cellular oscillatory processes such as the Wnt-b-catenin pathway, circadian rhythms of arterial blood pressure and cardiac frequency and glycolysis metabolic pathway. Dysfunction of clock genes and PPARgamma may lead to hyperphagia, obesity, metabolic syndrome, myocardial infarction and sudden cardiac death, In pathological conditions, regulatory processes of the cardiovascular system may bifurcate towards new states, such as those encountered in hypertension, type 2 diabetes, and heart failure. Numerous of these oscillatory mechanisms, organized in time and space, behave far from equilibrium and are "dissipative structures".
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PMID:PPARs, Cardiovascular Metabolism, and Function: Near- or Far-from-Equilibrium Pathways. 2070 50

'Globesity' is a descriptive term for the obesity epidemic now facing the U.S. and indeed, the world. Hyperphagia (i.e. overeating) can lead to metabolic syndrome which in turn can lead to Type 2 diabetes mellitus, heart disease, stroke and some cancers. The World Health Organization even states that more people die each year from the consequences of obesity than from hunger. Something must be done to stem the tsunami of obesity and its resultant medical complications. Our work and that of others suggests that new obesity treatments and anti-obesity medications should be based on those already successful in treating other addictions. This paper looks at empirical evidence linking addictions to food and to drugs such as tobacco, alcohol, cannabis, amphetamines, and cocaine. Hypotheses are put forth as to why hyperphagia is so difficult to treat. Additionally, prenatal programming for addiction is explored. Lessons from successful drug treatment are elucidated and potential pharmaceutical targets for hyperphagia and obesity are suggested.
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PMID:Drug withdrawal and hyperphagia: lessons from tobacco and other drugs. 2149 91

The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical craniofacial dysmorphism. Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and hypothyroidism. The authors report the case of a 9-year and 5-month-boy referred to the paediatric endocrinology clinics for morbid obesity. Clinical findings were generalised obesity with a body mass index >95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight eyebrows, broad nasal bridge and pointed chin. He was unable to walk and had no expressive language. Cytogenetic analysis identified 1p36.33-pter deletion (~139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication. The blood analysis showed insulin resistance and dyslipidaemia. The authors emphasise the need to consider monosomy 1p36 as a cause of severe psychomotor delay and obesity.
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PMID:Morbid obesity in a child with monosomy 1p36 syndrome. 2260 91


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