Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.
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PMID:Perineal lipomas associated with anorectal malformations. 1700 81

Diabetic painful neuropathy (DPN) is one of the most common causes of neuropathic pain. The management of DPN consists of excluding other causes of painful peripheral neuropathy, maximising diabetic control and using medications to alleviate pain. The precise relationship between glycaemic control and the development and severity of DPN remains controversial. In this context, drugs such as aldose reductase inhibitors, ACE inhibitors, lipid-lowering agents and alpha-lipoic acid (thioctic acid) may have a useful role to play. There is also evidence that a successful pancreatic transplant may improve symptoms over time, but the mainstay of management continues to be symptomatic control of pain with drugs. Evidence from placebo-controlled studies has shown that opioids, antiepileptic and antidepressant drugs together with capsaicin are effective for alleviating DPN. Tramadol and oxycodone have been shown to be effective in studies of limited duration but their adverse effects, such as constipation and physical dependency, may limit their usefulness as a first-line treatment for DPN. Of the antidepressant drugs, the tricyclic antidepressants have been shown to be effective for alleviating DPN. These medications are widely used but their anticholinergic and sedative properties may not be well tolerated by patients. There is also good evidence that the serotonin-noradrenaline reuptake inhibitor antidepressant drugs venlafaxine and duloxetine are effective for treating DPN. However, venlafaxine may cause cardiac dysrhythmias, and patients using this medication require careful cardiac monitoring. Duloxetine appears to be less cardiotoxic and is licensed in the US and EU for alleviating DPN. The gabapentinoid group of drugs, gabapentin and pregabalin, appear to be the most evidence-based of the antiepileptic drugs for treating DPN. Large placebo-controlled studies have been performed with both of these agents. For many patients, it is still unclear what advantages pregabalin has over gabapentin for DPN. Until better evidence emerges, the potential availability of less expensive generic formulations of gabapentin, together with greater experience with its use, favour gabapentin as the main antiepileptic drug for alleviating DPN. Topiramate, lamotrigine, sodium valproate and oxcarbazepine have been shown to be effective in smaller studies but do not have the same evidence base as the gabapentinoid group of drugs. Of the newer antiepileptic drugs, lacosamide appears to be the most promising for alleviating DPN. Capsaicin has the best evidence base of all the topical agents, but local anaesthetic patches may also have a useful therapeutic role. It is not possible to nominate a single drug as the first-line treatment for DPN and there is evidence that a low-dose combination of two or more drugs rather than a single agent may provide better symptomatic relief with fewer adverse effects. Further studies are necessary to clarify the best combination(s) of treatment for DPN.
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PMID:Diabetic painful neuropathy: current and future treatment options. 1735 15

The discrepancies among data reported by using olive oil (OO) in humans appear to be due to the great differences between the different OO used. Based on structure/function relationships we have chemically optimized an OO through the rational mixture ("coupage") of several Spanish extra virgin olive oils (methodology "oHo"). Patients with chronic kidney disease (CKD) develop a progressive picture of malnutrition and inflammation that lead them to an elevated risk of cardiovascular disease. In a pilot, randomised trial the nutritional efficacy and safety of "oHo" were evaluated in 32 patients (mean age 60,8 +/- 13,2 years old; 16 women) with CKD (KDIGO stages 4-5) at predialysis. After a 7 days wash out for statins and ACE inhibitors 19 patients had "oHo" at doses of 60 mL/day (20 mL t.i.d) for 30 consecutive days, whilst 13 patients remain as a control group without "oHo". At the end of the study only patients having "oHo" showed significant increases of serum albumin (p<0.05) and not significant increases of total proteins, weight, and BMI. Total cholesterol (p<0.05) and HDL-cholesterol (p<0.01) increased with "oHo". The number of cases with pathologic HOMA-IR in the control group increased from 1 to 2 patients whilst in the "oHo" group decreased from 2 to none. No significant changes of minerals, arterial pressure, hemoglobin, and other parameters related to CKD were seen. After a 30 days follow-up in the "oHo" group all parameters came back to basal ones, excepting for blood pressure that significantly decreased (p<0,05). Tolerance was excellent and constipation significantly diminished (p<0,001) in the "oHo" group. Of importance, none of these biological changes were seen in regular consumers of other conventional olive oils (control group). These intriguing results, seen by the first time, appear to partially satisfy the recent claims ("reverse epidemiology") about the need of a more correct nutrition in CKD patients. However, these data need to be proved in more larger trials as well as in CKD patients under dialysis with harder inflammatory/malnutrition conditions.
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PMID:[Preliminary study on efficacy and tolerance of a "coupage" of olive oil in patients with chronic kidney disease. Nutritonal evaluation]. 1794 85

We present a highly unusual and interesting case of coexistent hyperparathyroidism and sarcoidosis leading to hypercalcaemia. A 70 year old female presented with weight loss, constipation and dehydration. Investigations revealed marked hypercalcaemia with a non-suppressed PTH. In view of the degree of hypercalcaemia as well as the unintentional weight loss, investigations for malignancy were conducted -these were negative. Parathyroid imaging was then requested and an adenoma was identified. Surprisingly, surgery revealed the coexistence of a parathyroid adenoma with the unexpected finding of sarcoid granulomas within the parathyroid and thyroid glands. To our knowledge, this is the first such case reported. Further imaging confirmed pulmonary sarcoidosis and a serum ACE was elevated. Serum calcium levels did not respond to parathyroidectomy but eventually fell with steroid therapy.
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PMID:Sarcoid granulomas in the parathyroid gland - a case of dual pathology: hypercalcaemia due to a parathyroid adenoma and coexistent sarcoidosis with granulomas located within the parathyroid adenoma and thyroid gland. 2055 94


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