Gene/Protein Disease Symptom Drug Enzyme Compound
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 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leptospirosis has a highly variable clinical presentation, which may be related to different infecting serovars, host factors, or a combination of these. This study investigated retrospectively 34 consecutive patients with serologically confirmed leptospirosis admitted during the period 1992-2002. On admission, the most frequent symptoms were fever (100%), headache (75%), myalgia (55%), arthralgia (45%) and vomiting (39%). Pertinent laboratory findings included lymphopenia (85%), thrombocytopenia (75%), elevated liver enzymes (87%) and renal abnormalities (proteinuria, 77%; haematuria, 58%; elevated serum creatinine, 53%). The study confirmed the variable clinical and biological symptoms of leptospirosis, and indicated that lymphopenia is a common feature of leptospirosis cases.
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PMID:Clinical presentation of leptospirosis: a retrospective study of 34 patients admitted to a single institution in metropolitan France. 1615 67

We describe a man and a woman with Fabry's disease. Renal biopsies showed late and early stages respectively of focal and segmental glomerulosclerosis (FSGS) and vascular changes. Clinically the hemizygous patient had advanced renal disease with nephrotic range proteinuria and serum creatinine 122 micromol/l. The female carrier had minimal albuminuria, borderline GFR with a normal serum creatinine, acroparesthesias, moderate fatigue, tinnitus and headache accompanied by ischemic cerebral lesions. Enzyme replacement therapy (ERT) was initiated according to our Fabry protocol, partly due to the renal morphologic findings. We conclude that FSGS and vascular changes may be an early morphologic finding in Fabry's disease, even in patients with subtle albuminuria. The potential role of FSGS as a marker of progressive renal disease in some Fabry patients is discussed. As FSGS and vascular changes obviously may exist across a wide range of clinical presentations and have potential prognostic implications, we suggest that a renal biopsy should be performed prior to enzyme replacement therapy in all adult Fabry patients with proteinuria of various levels. Efforts should be made to develop a scoring system to evaluate potential histologic markers. Protocol biopsies may have therapeutic implications and may provide valuable information in the evaluation of start and dosing of ERT.
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PMID:Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. 1590 1

Tubulointerstitial nephritis (TN) is a heterogenous disease, where disturbances of the interstitial tissue and renal tubules are found. Different immunological and nonimmunological mechanisms initiated by infectious and non-infectious factors may lead to TN. A case of 13-years-old girl with primary diagnosis of acute pyelonephritis is presented. The abdominal pain, headache, pain in lumbar region and intermittent fever with loss of appetite were observed in this girl a few weeks before admission. Microcytic anemia, proteinuria and glucosuria, azotemia and elevated markers of inflammatory response were found. In ultrasound examination heterogenous cortex echogenicity of both kidneys and disturbances in parenchymal blood flow were observed. In renal scintigraphy the discriminated catch index was found. Kidney biopsy revealed the edema of the interstitial space with mononuclear and lymphocyte infiltration. The diagnosis of TN was established upon the history, clinical examination, results of laboratory tests, kidney imaging and biopsy. After steroid and doxycycline treatment an improvement and normalization of the results of laboratory tests were observed. It seems to be justified to consider Yersinia infection as a cause of acute tubulointerstitial nephritis.
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PMID:[Yersiniosis as a cause of acute tubulointerstitial nephritis and acute renal failure--case report]. 1606 90

We retrospectively reviewed 34 consecutive patients with serologically confirmed leptospirosis admitted during years 1992-2002. Nine patients (26.5%) had respiratory symptoms on admission including cough (n = 4), shortness of breath (n = 4), cyanosis (n = 2), and hemoptysis (n = 1). Six patients had pulmonary radiographic findings including (1) diffuse, ill-defined, ground-glass density (n = 3); (2) diffuse alveolar opacities (n = 2); and (3) small nodular density (n = 1). Male/female ratio was 8/1 and mean age was 47 years. Seven patients reported their exposure source including hunting (n = 2), fishing (n = 2), fresh water swimming (n = 2), and canoeing (n = 1). All patients had fever (mean = 40.1 degrees C). Other common symptoms were headache (n = 4), vomiting (n = 3), and myalgia (n = 3). Biological abnormalities included elevated liver enzymes (n = 8), proteinuria (n = 7), lymphopenia (n = 6), hematuria (n = 5), renal failure (n = 4), anemia (n = 4), and elevated neutrophil count (n = 4). PaO(2 )was measured for 3 patients while they were breathing room air (32, 55, and 66 mmHg). Suspected diagnosis on admission included leptospirosis (n = 2), bacterial pneumonia (n = 2), intoxication, influenza, viral hepatitis, biliary tract lithiasis, and rapidly progressive glomerulonephritis (one patient each). The first serologic testing for leptospirosis was positive for 5 patients (55%). Serovar was presumptively identified for 7 patients: Australis (n = 3), Grippotyphosa (n = 2), and Icterohaemorrhagiae (n = 2). Seven patients were treated with penicillin; two patients received no antibiotics. All patients were cured. In conclusion, patients with leptospirosis may present predominantly with nonspecific pulmonary symptoms. In these patients, leptospirosis must be suspected when there is a potential exposure to rats, especially in case of high-grade fever, myalgia, hepatitis, and renal abnormalities.
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PMID:Respiratory manifestations of leptospirosis: a retrospective study. 1621 64

We report one sixty-seven years-old female who presented with hypertension refractory to antihypertensive drugs. She had an elevated BP for approximately 15 years. In the last 8-10 months her hypertension had become difficult to control. Her BP ranged between 180/100 mmHg and 220/1220 mmHg on atenolol 100 mg once daily, methyldopa 500 mg three times daily, furosemide 25 mg twice daily, doxazosine 4 mg twice daily. When she was referred to our unit serum creatinine was 2.3 mg/dL and she had a mild proteinuria (70 mg/dL) without microematuria. Ultrasonography showed a left kidney size in the low-normal range (LD 11 cm) and a small right kidney (LD 9 cm). Renal angiography showed a severe, ostial stenosis of the left renal artery and a total thrombosis of the right renal artery with a blood supply to the right kidney provided by collateral channels. An ACE-I was added to the therapy but a sharp increase in serum creatinina (up to 6.4 mg/dL) prompted us to withdraw the drug. She underwent a renal angioplasty on the left side and a Palmaz stent was placed. The control angiography showed a good anatomical result. Three months after the manoeuvre the patient was again referred to our unit with headache, nausea vomiting and hyper-tension refractory to amlodipine 10 mg/day, doxazosine 4 mg twice a a day, atenolol 50 mg/day, furosemide 50 mg/day. A doppler ultrasonography and a magnetic resonance angiogram showed no restenosis on the treated artery. An ACE-I was again administered and BP on this drug was 145/90 mmHg after one month and 130/85 after three months. Headache, nausea and vomiting disappeared. Serum creatinina kept unchanged (2.2 mg/dL). Comment. In this case the benefit of angioplasty on blood pressure control was indirect. Apparently the manoeuvre showed no effect on blood pressure, but the angioplasty allowed us to use of an ACE-Inhibitor, without any negative effect on renal function, and thus to adequately control blood pressure.
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PMID:[Refractory hypertention in a female patient with renal failure]. 1634 54

Haemolytic-uraemic syndrome (HUS) is a rare cause of insulin-dependent diabetes mellitus during the acute stage. We previously reported the case of a 3-year-old girl having presented with typical HUS with diarrhea, microangiopathic anaemia, thrombocytopenia and acute renal failure (17 days of anuria). Transient hyperglycaemia (highest level: 513 mg/dl) was observed, requiring continuous intravenous insulin infusion for 9 days. Subcutaneous insulin injections were stopped after 24 days. Oral glucose tolerance test performed 4 months after normalization of blood glucose was normal. HLA DQ genotype (DQA1-DQB1.AZH/DQA3-DQB3.1) was not at risk for type 1 diabetes and there were no auto-antibodies (ICA and IAA). The 3-years follow-up was marked by persistent arterial hypertension, proteinuria and slight renal insufficiency despite angiotensin-converting enzyme inhibitor treatment. Ten years after HUS occurred (the patient had been lost to follow-up for 7 years), she came back with complaints of headache but neither polyurodipsia nor weight loss. She was found to have arterial hypertension. Chronic renal impairment had moderately progressed with decreased glomerular filtration rate (63 ml/min/1.73 m2) and proteinuria (2 g/24 hours). Fasting blood glucose was 189 mg/dl and reached 315 mg/dl during an oral glucose tolerance test. HbA1c level was 8.2% (N<6.2%) and diabetes mellitus was diagnosed without any signs of autoimmunity (IAA, ICA, GADA and IA2B were negative). Good glycaemic control was obtained with 0.5 U/kg/day of insulin. In conclusion, transient beta-cell dysfunction complicating HUS acute stage may evolve to overt non-autoimmune diabetes mellitus (microangiopathic process?), even after a long free interval. This case emphasizes the need for a long-term follow-up of patients with HUS.
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PMID:Insulin-dependent diabetes mellitus as long term complication of haemolytic-uraemic syndrome. 1679 6

We present the case of a multiparous parturient who developed hypertension associated with a severe headache in the immediate post-partum period. She subsequently suffered a generalised tonic clonic seizure on the fifth post-partum day. Following recovery of consciousness, she developed a left homonymous hemianopia. Apart from hypertension, headache and convulsion, she had no symptoms and no proteinuria or other biochemical or haematological changes associated with eclampsia. The magnetic resonance imaging findings were consistent with vasogenic oedema in the right posterior parieto-occipital white matter and these in turn are consistent with reversible posterior leucoencephalopathy syndrome. The differential diagnosis of convulsions in the post-partum period is discussed and the clinical and radiological features of reversible posterior leucoencephalopathy syndrome are described.
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PMID:Reversible posterior leucoencephalopathy syndrome in a peripartum patient. 1694 18

Use-result surveillance was conducted to investigate the safety and efficacy of Acetylcysteine Oral Solution 17.6 % "SENJU" having the indication for the antidote to acetaminophen (Paracetamol) overdose. Ninety six cases (patients) were collected for the safety evaluation, and 13 cases (incidence was 13.5 %) showed 29 adverse drug reactions as follows: 4 cases of nausea; 3 cases of vomiting; 2 cases each of liver dysfunction, headache, abdominal pain, diarrhea, blood bilirubin increased; and one case each of CK increased, anaemia, prothrombin time prolonged, gamma-glutamyltransferase increased, LDH increased, body temperature increased, proteinuria, blood potassium decreased, thrombocytopenia, platelet count increased, white blood cell decreased, and blood amylase increased. One case of severe liver dysfunction which was ameliorated later was found. Neither case showing transitional chronic liver dysfunction, nor case of death was observed. Patient background analysis showed that 79.2% of the total patients was female, and that 28.1% was patients with mental disease. Gastrolavage, active charcoal administration, and extracorporeal removal of toxins were performed in cases of 71.9%, 50.0% and 7.3%, respectively. Those concomitant treatments, however, showed no influence for the incidence of adverse drug reaction or the drug effectiveness. Blood acetaminophen assay was performed in only 43.8% of the total cases. This rate indicates that the medical treatment procedure needs more consideration on the clinical standard for the antidote to acetaminophen overdose and on its practical application.
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PMID:[Post-marketing surveillance of acetylcysteine oral solution 17.6% "SENJU" for the antidote to acetaminophen overdose--use--results surveillance]. 1713 80

The purpose of this study was describe two patients with rapid recovery of refractory late postpartum eclampsia (LPPE) following uterine curettage, and to evaluate the literature about supportive evidence for such a management in LPPE. A detailed literature search was performed focusing on studies reporting the clinical presentation, laboratory workup, imaging, and management of LPPE. Mean reported onset of LPPE was on postpartum day 7.0 +/- 2.9. Only 35.3% had a history of preeclampsia: these had earlier onset of seizures compared with the subjects without history of preeclampsia (4.3 +/- 1.4 versus 7.6 +/- 2.9 days; p < 0.005). Onset of seizure was correlated with systolic blood pressure (Pearson's r = 0.34; p < 0.05). Major associated symptoms were headaches (71.4%), visual changes (46.0%), and nausea/vomiting (22.2%); 67.5% of patients were proteinuric. The remaining laboratory tests were usually normal. Among the patients with a normal head computed tomography, magnetic resonance imaging identified additional abnormalities in 53.8% (seven of 13). A total of 69.7% of patients developed multiple seizure episodes, some of these occurred while the patient was receiving magnesium sulfate treatment; 82.5% of patients underwent magnesium therapy and approximately half of those patients required multiple antiseizure drugs. The number of seizures was only correlated with the diastolic blood pressure (Pearson's r = 0.52; p < 0.01). Even remote from delivery, headaches, visual change, and nausea/vomiting are important symptoms of LPPE. Hypertension and/or proteinuria are important diagnostic findings. LPPE is often characterized by refractory seizures and controlling the diastolic blood pressure is important. Patients presented in our case report showed no seizures after uterine curettage. This potential useful management for LPPE requires additional investigation.
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PMID:Late postpartum eclampsia: report of two cases managed by uterine curettage and review of the literature. 1744 88

Just after Caesarean section for twin pregnancy and feto-pelvic dysproportion, a woman presented severe headaches and arterial hypertension, then blurred vision, then generalised seizures. There were no oedematous syndrome, proteinuria was negative, ASAT were 1.5 N and platelet count was 120,000/mm(3). Cerebral CT-scan was normal. Posterior reversible encephalopathy syndrome (PRES) was diagnosed on MRI. A second MRI performed at day 9 showed complete regression of cerebral lesions, while patient was taking anti-hypertensive and antiepileptic drugs. PRES has to be evoked in post-partum central neurological symptoms, even in absence of classical sign of pre-eclampsia, like proteinuria. PRES and eclampsia share probably common physiopathological pathways. There management and prognosis seems identical.
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PMID:[Isolated severe neurologic disorders in post-partum: posterior reversible encephalopathy syndrome]. 1757 73


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