Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035078 (renal failure)
 31,970 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient who presented with anophthalmia, panhypopituitarism, early onset of end stage renal failure, and craniofacial abnormalities. MRI at age 3 revealed that the pituitary was absent and renal biopsy demonstrated nephronophthisis as the cause of the renal failure. A similar syndrome has been associated with interstitial deletions of chromosome 14q22 and in one case hemizygosity for SIX6 was demonstrated. The patient reported here had a normal karyotype and Southern blot did not reveal loss of one copy of SIX6. We discuss other possible candidate genes that could be implicated in this syndrome.
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PMID:Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure. 1174 24

Gadolinium based MRI contrast agents are considered very safe due to their well known pharmacologic properties and elimination mechanisms. In this paper, we present a unique case in whom transient enhancement of CSF with contrast is seen. Severe renal failure is demonstrated to be responsible for this finding. The diagnostic criteria for everyday clinical setting and possible clinical implications are discussed.
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PMID:Gadolinium enhancement of cerebrospinal fluid in a patient with renal failure. 1176 Jul 90

An 89-year-old man with diabetes mellitus was admitted to the hospital because of a low-grade fever and a disturbance in consciousness. He had been diagnosed as having diabetes mellitus at the age of 22 years and had been taking oral hypoglycemic drugs for 16 years at least. A few days before admission, a loss of appetite was noticed by his family; he developed a stupor on the day of admission. On physical examination, his lower extremities were pale and his skin temperature was low. Laboratory tests showed an increase in his white blood cell count and his blood culture was positive for Staphylococcus aureus. An MRI showed that the abdominal aorta was totally occluded beneath the renal arteries, and no significant collateral circulation was observed. He was given antibiotics and anticoagulants, but his general condition continued to worsen. Laboratory tests showed renal failure and liver dysfunction, indicating multi-organ failure. On the 24th day of admission, he died of respiratory and heart failure. An autopsy showed the aorta to be totally occluded beneath the renal arteries by an embolism; atherosclerotic changes were rather mild. Acute plaque change on the surface of the aorta may have induced the sudden development of emboli in the aorta.
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PMID:A patient with diabetes mellitus and severe arterial embolism. 1180 7

Cerebrospinal fluid (CSF) is normally of low signal intensity on T1 weighted MRI. The case of a patient with renal failure who developed an epidural abscess, and in whom the CSF appeared of high signal intensity on delayed T1 weighted MRI is presented. Possible mechanisms for this are discussed.
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PMID:Contrast enhancement of cerebrospinal fluid on delayed MRI in a patient with an epidural abscess and renal failure. 1203 45

We describe four patients with cerebrovascular complications from two unrelated Italian families with Anderson-Fabry disease. Clinical examination, neuroimaging (MRI), biochemical and genetic analyses were carried out in all the patients. Alpha-galactosidase A activity was detected by fluorimetric assay and genetic analysis was performed by DNA sequencing. Family 1. A male patient presented recurrent strokes when he was 34 years old, albuminuria and subsequently progressive renal failure to renal transplantation. Family 2. A male patient, aged 32 years, had diplopia for a few days and then recurrent strokes with left spastic hemiparesis and internuclear ophthalmoplegia. A female patient, aged 48 years, presented L-dopa-responsive parkinsonism, and her sister had stroke when she was 55 years old. MRI was abnormal in all the patients and showed lacunar infarctions in the periventricular white matter, basal ganglia and pons. Lesions were detected by MRI even before stroke in a female patients. In patients with Anderson-Fabry disease, stroke is a frequent complication, and may be the first threatening clinical manifestation. In young people with undefined stroke, even without signs of renal involvement, it is important to consider the diagnosis of Anderson-Fabry disease and so to perform clinical examination and biochemical analyses. The pre-clinical stage of cerebrovascular involvement may be evaluable by MRI.
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PMID:Anderson-Fabry disease with cerebrovascular complications in two Italian families. 1223 91

The bone disease associated with end-stage renal failure (ESRD) and treatment are complex and multifactorial, and has changed in both clinical and imaging features over the past three decades. Whereas previously features of vitamin D deficiency (rickets/osteomalacia) and intense, and prolonged, secondary hyperparathyroidism (bone resorption, osteosclerosis, metastatic calcification) predominated, these features are now rarely evident radiologically. This has occurred through the better understanding of vitamin D metabolism and improvements in therapeutic management. However, metastatic calcification in soft tissues and 'adynamic" bone continue to be problematic. New complications have developed as a consequence of treatment (dialysis and transplantation), including amyloid deposition, noninfective sponyloarthropathy, osteonecrosis, and osteopenia/osteoporosis). Radiographs remain the most widely used imaging technique in examining for skeletal disease in patients with ESRD on maintenance dialysis. Occasionally, more sophisticated imaging (CT, MRI, nuclear medicine scanning) are helpful (parathyroid tumor localization, differentiation between infection and amyloid deposition). Developments in quantitative methods to assess bone density enable the effects of ESRD and treatment to be studied and monitored. Technical developments in computed tomography (rapid, multislice scanning) allow quantitation and monitoring of metastatic cardiac calcification in patients on hemodialysis, which has relevance to prognosis.
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PMID:Dialysis bone disease. 1235 10

Wasp stings generally cause local reactions like pain, wheal, flare, edema and swelling, which are generally self-limiting. Multiple stings can lead to vomiting, diarrhea, generalized edema, dyspnea, hypotension, collapse, renal failure or death. Unusually, they may cause serum sickness, vasculitis, neuritis or encephalitis. We report a case of a 40 year old male who developed focal neurological deficit 10 hours following a wasp sting, which was confirmed to be ponto-cerebellar infarction on MRI scan, and recovered within five days.
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PMID:Wasp sting induced neurological manifestations. 1239 66

Type B aortic dissection involves the appearance of a false lumen distal to the left subclavian artery and extending distally into the descending thoracic aorta and into the abdominal aorta. Complications of the dissection include rupture of the thoracic aorta, leg ischemia, visceral ischemia, and renal failure. A 37-year-old man presented with complaints of sudden onset of chest pain, left leg pain, and numbness. Examination revealed no femoral, popliteal, or distal pulses with decreased sensory and motor function on the left lower extremity. A CT scan revealed an aortic dissection at the proximal descending aorta extending into the iliac arteries with a left retroperitoneal hematoma at the iliac bifurcation. An MRI confirmed the dissection distal to the left subclavian artery into the iliac artery with a distal occlusion. Exploration revealed rupture of the left iliac artery dissection with arterial occlusion and a contained hematoma. The common iliac artery was ligated and an 8-mm Dacron bypass graft from the right common femoral artery to the left femoral artery was performed. Type B aortic dissection can present as rupture of the common iliac artery. Revascularization of the extremity with a femoral-femoral crossover graft is the recommended procedure in the absence of visceral ischemia. The surgeon should have a keen suspicion of this rare complication and its management.
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PMID:Type B aortic dissection with rupture of the left common iliac artery: a case report. 1246 17

To assess the clinical and radiologic correlates of frontal intermittent rhythmic delta activity (FIRDA), the authors reviewed the hospital charts of patients whose EEGs depicted this EEG finding, and recorded their past medical and neurologic history, the reason for hospital admission, and their neurologic status both on admission and during EEG recordings. Laboratory results on admission and concomitant to the EEG recording, computed tomography, or MRI findings during hospital admission were also reviewed. Sixty-eight patients were assessed. The gender ratio was 1:1; mean age was 56 years. Chronic disease occurred in 78% of patients, including hypertension (34%), diabetes (32%), and renal failure (18%). On admission, renal failure (n = 34) and hyperglycemia (n = 22) were most prominent. The majority of patients had at least one abnormal laboratory result. Thirty-eight of 51 patients in whom the level of consciousness was stated during EEG were described as awake. More than half of 58 patients whose EEG background activity was stipulated demonstrated diffuse slowing, mostly in the theta range. MRI was abnormal in 15 of 17 patients. Intrahemispheric lesions, particularly ischemic and hemorrhagic, were most common (n = 10), followed by basal ganglia lacunae (n = 4). Computed tomography was abnormal in 29 of 44 patients. Hemispheric pathology, diffuse or localized, occurred in 22 patients. Frontal intermittent rhythmic delta activity is associated with mild to moderate encephalopathy and is detected principally in awake patients. Most patients in this series had chronic systemic illness. Old ischemic structural brain lesions may predispose some patients to develop FIRDA during acute metabolic derangement, such as uremia and hyperglycemia. Frontal intermittent rhythmic delta activity was not associated with EEG epileptiform activity. Deep midline lesions, posterior fossa tumors, and hydrocephalus were not detected in this series of patients with FIRDA.
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PMID:Clinical and radiologic correlates of frontal intermittent rhythmic delta activity. 1248 84

In order to test the practicability and safety of whole-body cooling in term neonates with moderate-to-severe hypoxic-ischaemic encephalopathy (HIE) and to report outcomes, a prospective pilot study was carried out in 25 term infants (median postmenstrual age 38 weeks, range 36 to 41 weeks; 20 males, five females). Whole-body cooling, to a target core temperature of 33 to 34 degrees C, started within 6 hours of birth and was maintained for 72 hours. Of the 25 newborn infants (19 Sarnat II and six Sarnat III, 18 outborn), 18 survived, including 13 (72%) with normal cerebral signal by MRI. Temperature instability occurred during cooling in 15 infants, but neither severe haemodynamic instability nor renal failure was seen. Thrombocytopenia developed in 12 infants, including seven with biological disseminated intravascular coagulation. One patient had hypoxaemia with right-to-left shunting through the ductus arteriosus, and seven had limited meningeal or subdural bleeding. Whole-body cooling is feasible in term neonates, with no life-threatening adverse events. Improvements are needed to obtain stable hypothermia for 72 hours.
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PMID:Whole-body cooling after perinatal asphyxia: a pilot study in term neonates. 1255 98


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