Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thrombotic disease is rare in neonates. The main risk factors at this age are perinatal asphyxia, maternal diabetes, sepsis, polycythemia, dehydration, a low cardiac output, and in primis the catheterization of central lines. Another important risk factor is inherited thrombophilia. Arterial thrombosis is even more rare than venous thrombosis and less related to most of the risk factors listed above; it occurs more frequently in the iliac, femoral, and cerebral arteries but very rarely in the aorta. Most of the described cases of aortic thrombosis are associated with the catheterization of an umbilical artery and involve the descending tract and the renal arteries; very few relate to the ascending tract and the aortic arch. The possible role of virus-induced primary vascular endothelium damage in the etiopathogenesis of neonatal arterial thrombosis has been previously hypothesized. Herpesviruses, particularly human cytomegalovirus (HCMV), can infect endothelial cells and directly damage intact vascular endothelium, altering its thromboresistant surface as a result of procoagulant activity mediated by specific viral surface phospholipids, necessary for the coagulation enzyme complex assembly that leads to thrombin generation. We describe a case of congenital aortic arch thrombosis. The clinical, laboratory, and virologic pictures; the anatomopathologic findings (fully compatible with viral infection); the detection of HCMV in various tissues (including the aorta); and the absence of other causes of aortic thrombosis make it possible to attribute the case to a severe congenital HCMV infection with multiple organ involvement, after the primary infection of the mother. The hemostatic system disorders and hemodynamic disturbances related to viral cardiac damage explain the clinical features of the case and indicate that congenital HCMV infection should be included among the causes of neonatal aortic thrombosis.
...
PMID:Neonatal aortic arch thrombosis as a result of congenital cytomegalovirus infection. 1173 41

Erythromelalgia is a rare poorly understood clinical condition characterized by intense burning pain, pronounced erythema, and increased skin temperature. Although there are many classifications of the disease, it can basically be divided into primary, which begins spontaneously at any age, and secondary, which is associated with myeloproliferative disorders-related thrombocythemia, polycythemia, collagen-vascular diseases, diabetes mellitus, peripheral neuropathy, autoimmune and infectious diseases, and use of certain medicaments. A wide variety of etiological conditions can cause erythromelalgia, all having a single common pathogenetic mechanism - microvascular arteriovenous shunting. The disease is characterized by severe pain associated with redness and hotness in extremities. The diagnosis is based on the medical history and clinical findings. The most useful oral medications for erythromelalgia seem to be aspirin, propranolol, clonazepam, cyproheptadine, drugs inhibiting serotonin re-uptake (venlafaxine and sertraline), tricyclic antidepressants (amitriptyline, imipramine), anticonvulsants (gabapentin), calcium antagonists (nifedipine, diltiazem), and prostaglandins (micoprostol). Erythromelalgia is usually chronic, sometimes progressive, and disabling disease, which can greatly affect the quality of life. Some patients have stable disease and get better, or even experience full resolution of the disease, with time. This review article presents the etiological basis, diagnostics, and therapy of erythromelalgia.
...
PMID:Erythromelalgia. 1507 45

Diabetes type 1 is observed in individuals with a genetic predisposition to the disease. Observed is a 3-5 fold risk for congenital defects, therefore diabetes type 1 is one of the highest known teratogenic risk factor. The main factor responsible for the development of congenital defects is hyperglycemia. Observed are congenital defects of the central nervous system, the bones, urinary and digestive tract. Characteristic is macrosomia. Observed are hypocalcemia, hypomagnesemia, polycythemia, hyperbilirubinemia, hypertrophic cardiomyopathy, respiratory disturbances. Children from families with diabetes type 1 are at high risk for the development of the disease in the newborn period, additional diseases. They must be in permanent medical control.
...
PMID:[The child from families with type 1 diabetes]. 1623 63

We report 6 patients with Cheiro-oral syndrome (COS), with special reference to clinical features and responsible lesions. The time intervals from the onset of symptoms to arrival in our department were less than 24 hours in 3 patients, 2 days in 2, and 5 days in 1. All patients had subjective sensory disturbance involving the unilateral hand and ipsilateral perioral regions, and 4 patients presented with objective sensory disturbance. The body parts of tingling sensation tended to be larger than those of superficial sensory disturbance. Three patients developed motor disturbance including hemiparesis with or without ataxia, clumsiness of fine finger movements, and dysarthria. Magnetic resonance imaging revealed fresh infarctions around the thalamus, including lacunar infarctions in 5 patients and branch atheromatous disease in 1 patient. The lesion sites responsible for COS were ventral posterolateral (VPL) and ventral posteromedial (VPM) nuclei in the thalamus in 4 patients, thalamic pulvinar nucleus and medial geniculate body in 1, thalamic ventroposterior region-internal capsule-corona radiata in 1. Three patients had asymptomatic brain infarctions. Risk factors were hyperlipidemia, hypertension, diabetes mellitus, smoking, arteriosclerosis of the carotid artery, and polycythemia. In the convalescent stage, 5 patients suffered from residual sensory-motor disturbance, whereas 1 patient recovered from COS. COS has been attributed mainly to small infarctions in the thalamic ventroposterior nuclei. However, it is suggested that damage to ascending sensory fibers projecting to the thalamic VPL and VPM nuclei can cause COS. Because initial symptoms of COS are apt to be overlooked, early diagnosis and treatment are necessary to avoid residual sensory-motor disturbance.
...
PMID:[A clinicoanatomical study of thalamic cheiro-oral syndrome]. 1652 19

Post-transplant erythrocytosis (PTE) is characterized by persistently elevated hematocrit level >or= 51%. This complication is reported to develop in 10-20% of renal allografts recipients, mostly 2 years after kidney transplantation. PTE is self-limited in 25% of the patients; however it may persist in patients with an increased susceptibility for thrombosis and potential fatal outcome. To evaluate the prevalence and risk factors of PTE in our center, we reviewed the records of 235 patients who received renal allografts from 1999 to 2004. Polycythemia was found in 45 (19%) patients. There was no significant correlation of polycythemia and age, history of hypertension, diabetes, pre-transplant hematocrit level, pre-transplant history of transfusion, graft's function, and source of kidney. A significantly higher proportion of PTE patients were males, patients with history of polycystic kidney disease, and patients with glomerulonephritis. We conclude that PTE is an important complication of kidney transplantation. There are several risk factors that should be addressed to prevent this complication.
...
PMID:Risk factors of erythrocytosis post renal transplantation. 1858 13

Renal venous thrombosis (RVT) is a rare but a well recognized entity in children and neonates. The clinical signs of neonatal RVT include hypertension, enlarged kidney(s), hematuria, renal insufficiency, proteinuria, thrombocytopenia, or all. Persisting impairment of kidney function and hypertension are serious and common complications in patients with RVT. Risk factors for the development of RVT include maternal diabetes mellitus, pathologic states associated with thrombosis (e.g., shock, dehydration, perinatal asphyxia, polycythemia), and sepsis. Inherited prothrombotic abnormalities have been described in some reports of RVT. We report the case of a male newborn with left RVT and associated homozygosity for both factor V Leiden (G1691A) and methylenetetrahydrofolate reductase C677T mutations in addition to elevated serum lipoprotein (a). The patient was treated with heparin. We believe our case to be the first reported case in the English medical literature of such an association between neonatal RVT and homozygosity for both factor V Leiden and methylenetetrahydrofolate reductase. This case and other studies clearly demonstrate that neonatal RVT should be evaluated for thrombophilia conditions.
...
PMID:Renal venous thrombosis in a newborn with prothrombotic risk factors. 1954 80

The most striking feature observed in this study is the extensive variation of the serum in relation to its proteins. It was found that in certain diseases the globulin fraction is markedly increased, whereas the total protein of the serum may be normal, or may fall far below normal in amount. The diseases in which an increase in the globulins takes place may be grouped as follows: (1) cardiac diseases associated with decompensation and serous effusions, (2) pulmonary or respiratory affections of inflammatory or non-inflammatory origin (pneumonia, emphysema, polycythemia), (3) diabetes mellitus, and (4) parenchymatous nephritis. In the serum of chronic parenchymatous nephritis the increase in the globulin content is most pronounced and may constitute nearly all the protein, or as much as 95 per cent. The globulin content of serum is normal or diminished in the following diseases: (1) simple achylia gastrica (short duration), (2) tuberculosis, (3) diabetes insipidus, and (4) chronic interstitial nephritis. Other ingredients of the sera analyzed showed variations which cannot be definitely classified; but in a general way it appears upon careful analysis that an accumulation of water and salt occurs in those diseases in which the globulin fraction of the blood serum is increased.
...
PMID:A CONTRIBUTION TO THE STUDY OF THE CHEMISTRY OF BLOOD SERUM. 1986 8

In the United States, approximately 100,000 infants are born to diabetic mothers each year. If diabetes in pregnancy is uncontrolled, the diversity of resulting health problems can have a profound effect on the embryo, the fetus, and the neonate. These infants are at risk for a multitude of physiologic, metabolic, and congenital complications such as macrosomia, asphyxia, respiratory distress, hypoglycemia, hypocalcemia, hyperbilirubinemia, polycythemia and hyperviscosity, cardiomegaly, and central nervous system disruption. Preconception control of glucose metabolism throughout the trajectory of a woman's pregnancy is a significant factor in decreasing the adverse impact of diabetes on the fetus and newborn. Meticulous attention to neonatal glucose levels, thorough physical examination, and precise diagnosis are prerequisites to appropriate care for the neonate.
...
PMID:Caring for the infant of a diabetic mother. 2116 12

The objective of this study was to examine the use of partial exchange transfusion (PET) performed for polycythemia hyperviscosity syndrome (PHS) over time. A retrospective review of 141 infants who received a PET for PHS at Yale-New Haven Hospital between 1986 and 2007 was performed, querying maternal and neonatal medical records. Patient demographics, risk factors for PHS, indications for PET, and complications associated with PET and PHS were collected. Overall, there was no change in the number of PET performed over the study period ( R(2)=0.082, P=0.192). Eighty-eight percent of patients had at least one risk factor for PHS, most commonly maternal diabetes. Over time, there was a statistically significant decrease in maternal diabetes as a risk factor for PHS. Forty percent of patients had a significant complication attributed to PHS prior to PET. Eighteen percent of patients had a complication attributed to PET. Life-threatening complications of PHS or PET were rare. In conclusion, PHS continues to be a problem observed in neonatal intensive care units, particularly in at-risk populations. PHS and PET are associated with significant complications. Well-designed studies with long-term follow up are needed to assess the risks and benefits of PET for PHS.
...
PMID:Partial exchange transfusion for polycythemia hyperviscosity syndrome. 2136 33

Some highland populations have genetic adaptations that enable their successful existence in a hypoxic environment. Tibetans are protected against many of the harmful responses exhibited by non-adapted populations upon exposure to severe hypoxia, including elevated hemoglobin concentration (i.e., polycythemia). Recent studies have highlighted several genes subject to natural selection in native high-altitude Tibetans. Three of these genes, EPAS1, EGLN1 and PPARA, regulate or are regulated by hypoxia inducible factor, a principal controller of erythropoiesis and other organismal functions. Uncovering the molecular basis of hypoxic adaptation should have implications for understanding hematological and other adaptations involved in hypoxia tolerance. Because the hypoxia response involves a variety of cardiovascular, pulmonary and metabolic functions, this knowledge would improve our understanding of disease mechanisms and could ultimately be translated into targeted therapies for oxygen deprivation, cardiopulmonary and cerebral pathologies, and metabolic disorders such as diabetes and obesity.
...
PMID:Genetic determinants of Tibetan high-altitude adaptation. 2206 65


<< Previous 1 2 3 4 5 6 Next >>