Publications by authors named "Aperis G"

Article Synopsis
  • Fabry disease is a rare genetic disorder linked to the X chromosome, caused by a lack of the enzyme alpha-galactosidase A, leading to the buildup of certain fats in the body.
  • The pN215S mutation typically results in a milder form of the disease, primarily affecting the heart, but it may also cause generalized symptoms in some patients.
  • A case study highlights a male patient with the pN215S mutation who experienced a worsening of kidney function (proteinuria) that improved with higher doses of enzyme replacement therapy, emphasizing the need for personalized treatment strategies.
View Article and Find Full Text PDF

Patients with chronic kidney disease including those undergoing haemodialysis have deranged sleep-wake pattern. In large part this is due to an abnormal circadian cycle of melatonin, a hormone secreted by the pineal gland in the evening and induces sleep. Subjects undergoing automated peritoneal dialysis or nocturnal haemodialysis have better sleep profile compared to those on daytime dialysis.

View Article and Find Full Text PDF

This paper describes an uncommon case of a patient with anomaly of a persistent left superior vena cava (PLSVC). A 54-year-old man with a history of chronic kidney disease, heart failure, diabetes mellitus and hypertension was admitted to the hospital for worsening dyspnoea. During his hospital stay, heart failure was further deteriorated and he became anuric.

View Article and Find Full Text PDF

In this paper, we investigated the incidence of depression and its relation to clinical, laboratory parameters and sleep disorders in 45 haemodialysis (HD) patients. They were divided into two groups. Group A (n = 29) had no depression, whereas Group B (n = 16) had clinically assessed depression.

View Article and Find Full Text PDF

Anacetrapib is a cholesteryl-ester-transfer-protein (CETP) inhibitor, a new class of experimental drugs in the treatment of primary hypercholesterolemia and dyslipidaemia associated with the metabolic syndrome. One of the major advantages of this agent is, apart from the significant decrease in LDL-C it produces a substantial increase in HDL-C. Phase I, II, and III clinical trials have shown that anacetrapib is safe alone or in combination with statins.

View Article and Find Full Text PDF

The last twenty years, the incidence of invasive fungal infections (IFI) has risen dramatically due to the prolongation of survival of patients with multiple risk factors for fungal infections. Amphotericin B was for more than 40 years the gold standard for almost all IFI, but toxicity and resistance, especially of new and emerging pathogens remained important issues. Fluconazole and itraconazole have also the same disadvantage of resistance.

View Article and Find Full Text PDF

Paricalcitol is a synthetic vitamin D analogue acting on vitamin D receptor (VDR). The result is inhibition of PTH synthesis and secretion. Paricalcitol appears also to block the renin-angiotensin-aldosterone system.

View Article and Find Full Text PDF

We present an uncommon case of lactic acidosis after concomitant administration of Metformin and Tenofovir. This is a 74-year-old man with a history of diabetes mellitus receiving treatment with metformin. He had coronary artery disease and HIV infection treated with emtricitabine, tenofovir and recently started on efavirenz.

View Article and Find Full Text PDF

Background: Sulfasalazine is a combination of sulfapyridine and 5-aminosalicylic acid and is used as a first-line treatment in inflammatory bowel disease.

Objective: We describe a case of acute interstitial nephritis that presented after 7 months of sulfasalazine therapy. Despite the discontinuation of the drug, the patient's renal function continued to deteriorate and recovered only when systemic corticosteroid treatment was initiated.

View Article and Find Full Text PDF

We evaluated the effect of pregabalin in the treatment of uraemic pruritus not due to secondary hyperparathyroidism. Sixteen haemodialysis patients suffering from uraemic pruritus resistant to conventional treatment started on pregabalin 25 mg/day orally. The parameters recorded were age, time on haemodialysis, haematocrit, Ca, PO₄ , Ca × PO₄ product, PTH, spKt/V, eosinophil counts and IgE.

View Article and Find Full Text PDF

Tolvaptan is a new agent in the treatment of normovolemic and hypervolemic hyponatremia. It is a V(2) receptor antagonist inducing free water diuresis. It has been recently approved in USA and Europe for the treatment of hyponatremia associated with SIADH, cirrhosis as well as heart failure, while in hypovolemic hyponatremia its use is contraindicated.

View Article and Find Full Text PDF

An evaluation of the quality of life of patients with end stage kidney disease undergoing haemodialysis in the Greek population was conducted to understand whether this quality could be improved. Comparisons were made with a similar study conducted in United States in regards to the effects of kidney disease in daily life, burden of kidney disease, work status, cognitive function, quality of social interaction, sexual function, social support, physical functioning, role physical on daily routine, pain, general health perceptions, role emotional, emotional well being, social function and energy/fatigue. Any differences are discussed and analysed.

View Article and Find Full Text PDF

We used the killing of Galleria mellonella (Lepidoptera: Pyralidae; the greater wax moth) caterpillar by the live vaccine strain (LVS) of Francisella tularensis to develop an invertebrate host system that can be used to study F. tularensis infection and the in vivo effects of antibacterial compounds on F. tularensis LVS.

View Article and Find Full Text PDF

There is an urgent need for the development of new antifungal agents. A facile in vivo model that evaluates libraries of chemical compounds could solve some of the main obstacles in current antifungal discovery. We show that Candida albicans, as well as other Candida species, are ingested by Caenorhabditis elegans and establish a persistent lethal infection in the C.

View Article and Find Full Text PDF

Objective: To describe the clinical features of and genetic locus associated with autosomal-dominant macular dystrophy (MCDR5) in a large Greek family.

Methods: 26 members of a single family underwent clinical examinations and venepuncture. A genomewide linkage scan using 400 microsatellite markers distributed with an average spacing of 10 cM throughout the human genome.

View Article and Find Full Text PDF

The incidence of oesophageal candidiasis, candidaemia and disseminated candidiasis has increased dramatically. In addition to the amphotericin B formulations and fluconazole, the echinocandins anidulafungin, caspofungin and micafungin and the newer triazoles posaconazole and voriconazole are in the last stages of development and are becoming available for the management of candidiasis. This review presents these new agents and addresses their role in the treatment of candidiasis.

View Article and Find Full Text PDF

The incidence of fungal infections has increased globally, and the introduction of the newer triazoles and echinocandin antifungals is a more-than-welcome and long overdue development. In this report, we review the clinical trials evaluating the therapeutic efficacy of these new antifungal agents and examine possible gaps in coverage. Voriconazole has become the primary treatment for most forms of invasive aspergillosis in a number of centers, posaconazole offers a broad antifungal spectrum, and echinocandins are fungicidal against most Candida species.

View Article and Find Full Text PDF

We present a rare case of infectious endocarditis in a 40-year old male with native valve, caused by Corynebacterium minutissimum. The diagnosis was established with transesophageal echocardiogram. The patient was managed successfully with antibiotic therapy.

View Article and Find Full Text PDF

New triazole antifungals (voriconazole, posaconazole, ravuconazole and albaconazole) have been developed to meet the increasing need for new antifungals, and address the rising incidence of invasive fungal infections and the emergence of fungal resistance. This report describes the spectrum of activity of the newer-generation triazoles based on data from in vitro, animal and clinical studies. The authors discuss the use of these agents in combination with other antifungals, the extent of cross-resistance, their toxicity profile and pharmacokinetic properties.

View Article and Find Full Text PDF

Purpose: POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3.

Methods: The three exons of MYOC were screened by denaturing (d)HPLC.

View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to explore hearing impairment in a Greek family with a genetic form of otosclerosis and investigate potential genetic links to known otosclerosis-related genes and mutations in the NOG gene.
  • Audiological assessments revealed that affected family members initially experienced conductive hearing loss which progressed to include sensorineural components, leading to complete sensorineural loss in some cases.
  • The research concluded that the identified otosclerosis does not link with established genetic loci, suggesting genetic diversity and that mutations in the NOG gene are not responsible for the condition in this family.
View Article and Find Full Text PDF