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Biomedical subjects

R Manna

Publications and source records attributed to R Manna.

At least 19 recordsLinked to original sources
PubMed2007

Autoinflammatory gene mutations in Behçet's disease.

BACKGROUND: Behçet's disease (BD) shares clinical features with well-recognised autoinflammatory disorders. In addition, mutations in genes for familial Mediterranean fever and tumour necrosis factor receptor-associated periodic syndrome have been reported to have increased in patients with BD. PATIENTS AND METHODS: DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively. Over 90% of known mutations were screened using restriction fragment length polymorphism analysis and/or sequencing. RESULTS: Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD. Another was heterozygotic for the V377I genotype. The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms of CAPS. No mutations were identified in the control group. PSTPIP1 analysis revealed a new exon 10 insertion variant (c.741+33_741+34insGT) in 2 of 97 patients and in 1 of 51 controls (p>0.05), indicating that it is a polymorphism rather than a true mutation. DISCUSSION: This study could not demonstrate any significant increases in MVK, CIAS1 or PSTPIP1 mutations in patients with BD as compared with controls.

Adaptor Proteins, Signal Transducing↗
PubMed2006

Mild and transient neutropenia in an infant of mother with Wegener's granulomatosis.

A case of a pregnancy occurring in a woman with previously diagnosed Wegener's granulomatosis and the following neonatal follow-up are described. Complete clinical and laboratory disappearance of disease activity was achieved by steroid treatment before pregnancy. The newborn was followed up for 6 months; he always showed normal clinical and laboratory exams, except a mild and transient neutropenia.

Adult↗
PubMed2005

Effect of exogenous beta-galactosidase in patients with lactose malabsorption and intolerance: a crossover double-blind placebo-controlled study.

OBJECTIVE: To evaluate the efficacy of the addition to milk, 5 min and 10 h before its consumption, of a lactase obtained from Kluyveromyces lactis in lactose malabsorbers with intolerance. DESIGN: Double-blind, placebo-controlled, crossover study. SETTING: University Hospital. SUBJECTS: In total, 11 male and 19 female (aged from 18 to 65 y, mean age 43.3 y) lactose malabsorbers with intolerance participated. INTERVENTIONS: Each patient underwent three H(2) breath tests, in a random order. We used 400 ml of cow's semiskimmed milk as substrate and a beta-galactosidase obtained from K. lactis. The test A was carried out adding to the milk the enzyme (3000 UI), 10 h before its consumption; the test B was performed adding the beta-galactosidase (6000 UI) 5 min before milk ingestion and the test C was made using placebo. We evaluated the maximum breath H(2) concentration, the cumulative H(2) excretion and a clinical score based on intolerance symptoms (bloating, abdominal pain, flatulence and diarrhoea). RESULTS: Our study showed a significant reduction of the mean maximum H(2) concentration after both test A (12.07 +/- 7.8 p.p.m.) and test B (13.97 +/- 7.99 p.p.m.) compared with test C (51.46 +/- 16.12 p.p.m.) (ANOVA F = 54.33, P < 0.001). Similarly, there was a significant reduction of the mean cumulative H(2) excretion after both test A (1428 +/- 1156 p.p.m.) and test B (1761 +/- 966 p.p.m.) compared with test C (5795 +/- 2707 p.p.m.) (ANOVA F = 31.46, P < 0.001). We also observed a significant reduction of the mean clinical score after both test A (0.36 +/- 0.55) and test B (0.96 +/- 0.85) compared with test C (3.7 +/- 0.79) (ANOVA F = 106.81, P < 0.001). Moreover, with regard to the mean clinical score, there was a significant reduction after test A with respect to test B (Bonferroni's P = 0.03). CONCLUSIONS: Our study shows that in lactose malabsorbers with intolerance, the lactase obtained from K. lactis can represent a valid therapeutic strategy, with objective and subjective efficacy and without side effects.

Adolescent↗
PubMed2005

Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: an update.

Familial Mediterranean Fever (FMF), an autosomal recessive disorder, is characterised by recurrent attacks of fever and serositis, lasting 24-72 hours. Since 1972 colchicine has become the drug of choice for prophylaxis against FMF attacks and amyloidosis FMF-associated. Colchicine, an alkaloid neutral, is absorbed in the jejunum and ileum. It metabolised by liver and only small amounts are recovered unchanged in the urine. Really plasma half-life is prolonged in patients with liver or renal failure. Colchicine is able to prevent activation of neutrophils, binding beta-tubulin and making beta-tubulin-colchicine complexes; this way inhibits assembly of microtubules and mitotic spindle formation; moreover its mode of action includes modulation of chemokines, prostanoids production, inhibition of neutrophil and endothelial cell adhesion molecules. The minimal daily dose in adults is 1.0 mg/die, but in children there is not a definite dose. Since in vitro high dosages of colchicine stop mitosis, this drug might interfere with male and female fertility and with children growth, but, according to current guidelines and because of rare side effects of the drug, FMF patients are recommended to take colchicine. Since colchicine treatment is often complicated by frequent gastrointestinal side effects, by our experience, in order to improve colchicine tolerance we recommend: lactose-free diet and treatment of intestinal bacterial overgrowth and/or Hp-infection, assessed by breath tests. Since our data showed that 10-15% of FMF patients seem are non-responders or intolerant to colchicine, today we are working in the design of colchicine analogues which may have lesser toxicities and a larger therapeutic window.

Adult↗
PubMed2005

Hypercreatininemia and hyperglycemia: diabetic nephropathy or "inverted peritoneal auto-dialysis"?

We describe a case of 51-year-old male with fever, abdominal pain and inguino-scrotal hernia. Laboratory examination revealed hypercreatininemia and hyperglycemia, firstly interpreted as diabetic nephropathy. US and CT scan showed a hernia of the bladder into the scrotum. Surgery revealed multiple bladder perforations with peritoneal diffusion of urine. So, hypercreatininemia was caused by peritoneal reabsorption of urea and creatinine, a condition that may be described as "inverted peritoneal auto-dialysis". Surgical reposition and repairment of the bladder led to rapid normalization of serum urea and creatinine. Discharged diagnosis was intraperitoneal rupture of inguino-scrotal hernia of the bladder in patient with recent onset of diabetes mellitus.

Creatinine↗
PubMed2004

Probiotic treatment increases salivary counts of lactobacilli: a double-blind, randomized, controlled study.

BACKGROUND/AIMS: Lactobacilli are used in the prevention and treatment of several diseases, but they are also known to play a role in the pathogenesis of dental caries. The aim of our study was to evaluate whether the oral administration of lactobacilli could change the salivary counts of these bacteria compared with placebo. Moreover, lactobacilli were administered in liquid and in capsule form to determine the role of direct contact with the oral cavity. METHODS: Thirty-five healthy volunteers were randomized into three groups to receive lactobacilli and/or placebo for 45 days: group A (n = 14) received probiotics in capsules and placebo in liquid form; group B (n = 16) took liquid probiotics and placebo in capsules, and group C (n = 5) used placebo in both liquid and capsule form. Streptococcus mutans populations served as control. The salivary counts of lactobacilli and S. mutans were measured semi-quantitatively using the CRT bacteria kit. RESULTS: Compared with placebo, the oral administration of probiotics, both in capsules and in liquid form, significantly increases salivary counts of lactobacilli (p = 0.005 and p = 0.02, respectively). S. mutans populations were not significantly modified. CONCLUSIONS: The increased salivary counts of lactobacilli may indicate the need to closely monitor the dental health of patients undergoing long-term probiotics treatment, even when this treatment is administrated in a form that avoids direct contact with the oral cavity.

Administration, Oral↗
PubMed2003

Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis.

We have conducted a segregation analysis in order to characterise the transmission of Behçet Disease (BD), a multifactorial condition with a strong genetic component. Complete information about BD status and pedigree was obtained on 104 probands from our database. We used the criteria of the International Study Group for BD (ISBD) to delineate the clinical status of the sibs: possible BD (patients meeting two criteria), or ascertained BD (patients meeting at least three criteria). A proband was defined as "paediatric" when he/she completed ISBD criteria before/by the age of 16 years. Families were distinguished as paediatric (n = 67) (ascertained through a paediatric proband), and non-paediatric (n = 37) ones. An Expectation Maximization (EM) algorithm was used to estimate the Mendelian segregation ratio P in nuclear families (two parents and their offspring). The maximum likelihood estimate: Pcirc; = 0.248, calculated in the paediatric data set, was consistent with the theoretical value of P = (1/4) for autosomal recessive inheritance, whereas the Pcirc; value was 0.08 when using the non-paediatric data set. Our work provides the first evidence of genetic heterogeneity in BD, and of the existence of a Mendelian entity in the paediatric BD subgroup. Previous studies failed to show any simple mode of inheritance in BD, probably because they were performed on the whole BD population.

Behcet Syndrome↗
PubMed2003

Early diagnosis and stage-adapted treatment of Wegener's granulomatosis.

A case of Wegener's granulomatosis (WG) presenting with hearing loss and right facial nerve palsy is reported. The definitive diagnosis was based upon clinical data and serum cANCA and AECA detection. Early assessment of WG prevented surgical facial nerve decompression to treat a chronic otitis media complication. Immunosuppressive therapy with steroids, cyclophosphamide and methotrexate was required for relief of clinical symptoms and cANCA negativity as an expression of disease remission. The effectiveness of co-trimoxazole for preventing relapses of WG is discussed.

Adult↗
PubMed2003

Atypical mole syndrome and congenital giant naevus in a patient with celiac disease.

We describe a case of a 28-year-old woman affected by celiac disease (CD) associated with rare multiple disorders of the cutaneous pigmentary system: atypical mole syndrome and congenital giant naevus. Some other rare skin lesions have been reported in association with celiac disease such as cutaneous sarcoidosic granuloma, bullous pemphigoid, ichthyosis, alopecia areata, erythema elevatum diutinum, sclero-atrophic lichen and primary cutaneous amyloidosis. This is the 1(st) report concerning celiac disease and congenital disorders of the pigmentary system.

Adult↗
PubMed2002

Delayed ANCA positivity in pulmonary-renal syndrome.

A 57-year-old man was admitted due to rapidly progressive renal failure and pulmonary edema. Chest X-ray showed a bilateral lung infiltrate, while a normal myocardial contractility was reported by echocardiography. Though initially ANCA were absent, a necrotizing vasculitis with polymorphonuclear leukocyte infiltrate was observed in a kidney biopsy specimen. Renal histology was compatible with microscopic polyangiitis because of necrotizing lesions located at small vessels and at glomeruli that were not crescentic. Corticosteroids and immunosuppressive treatment was played with significant clinical improvement. Six months later, the patient died of a gastrointestinal hemorrhage due to bowel perforation by vasculitic lesion. This time high p-ANCA positivity was detected and at renal histology crescentic glomeruli were observed.

Adult↗
PubMed2001

Pharmacokinetics of cyclosporin microemulsion in patients with inflammatory bowel disease.

OBJECTIVE: To obtain a pharmacokinetic profile of cyclosporin microemulsion formulation in patients with inflammatory bowel disease. PATIENTS AND PARTICIPANTS: 58 consecutive patients (19 women and 39 men), aged 16 to 64 years (mean age 38 years), with a diagnosis of ulcerative colitis (29 patients) or Crohn's disease (29 patients). METHODS: Patients were treated with oral doses of cyclosporin microemulsion ranging from 200 to 400 mg daily. Blood samples were collected after 7 days of treatment; blood was drawn at 0, 0.5, 1, 2, 3, 5, 7 and 12 hours after the morning dose. In 23 patients out of 29 with ulcerative colitis and 23 out of 29 with Crohn's disease, these profiles were repeated immediately before hospital discharge, which took place an average of 18 days after admission. Blood specimens were assayed for cyclosporin immunoreactivity on the day of blood withdrawal by a radioimmunoassay technique. MAIN OUTCOME MEASURES AND RESULTS: In the range of doses employed, the average peak plasma drug concentration (Cmax) and area under the concentration-time curve to 12 hours tended to increase linearly with the dose (from 782.35 to 1,607.98 microg/L and from 3,612 to 7,221 microg x h/L for doses of 200 mg and 400 mg, respectively), whereas the time to Cmax (tmax) and elimination half-life (t 1/2beta) ranged between 78 and 95.2 min and 85.5 and 162 min, respectively, and did not appear to change with the dose. After dose-normalisation by transformation of data into percentage increase over baseline (trough) concentration for each patient, single kinetic parameters for the whole study population (n = 58) could be calculated (Cmax 620% vs baseline. tmax 86.5 min, t 1/2 115 min). Comparison between patients with Crohn's disease and ulcerative colitis showed that the latter had higher Cmax values (702% compared with 543% vs baseline, p < 0.05) whereas tmax and t 1/2beta values overlapped. CONCLUSIONS: The pharmacokinetic parameters of cyclosporin microemulsion in patients with inflammatory bowel disease are broadly similar to those previously measured in healthy volunteers and in other disorders requiring cyclosporin treatment.

Adolescent↗
PubMed2001

[Role of endothelial cell autoantibodies in the pathogenesis of sudden hear loss].

Sudden hearing loss can be found in systemic autoimmune diseases or it can be a symptom of an autoimmune disease of the inner ear. The present work has studied a group of patients with idiopathic sudden hearing loss to determine what role anti-endothelial cell antibodies (AECA) play as markers of immuno-mediated vasculitis of the inner ear. The study involved 32 patients with sudden deafness and 14 controls. The patients underwent otofunctional, neuroradiological, sero-microbiological and immunological testing. Using the indirect immunofluorescence technique, serum AECA were determined within 24 hours of hospitalization and three days after the onset of deafness. AECA positive patients (AECA+) were administered corticosteroid therapy (methylprednisone 1 mg/kg/die) for 1 month. A clinical follow-up was performed, including audiometry, 1 month after discharge and thereafter at three-month intervals (follow-up range: 8-18 months). AECA proved positive in 15/32 patients (47%) and in 2/14 of the controls (14%). The difference between the patients and the controls was statistically significant (p = 0.03). The 7 patient who showed no recovery after 1 month were all AECA+. None of the AECA+ patients showed other symptoms or a worsening of the hearing loss. In conclusion, the determination of non-specific autoantibodies vs. the inner ear, such as AECA, can be considered a useful clinical tool in differentiating between patients with idiopathic sudden hearing loss and those for which a diagnosis of immuno-mediated vasculitis of the inner ear is likely and for which prognosis is particularly unfavorable.

Adolescent↗
PubMed1999

Anti-endothelial autoantibodies in patients with sudden hearing loss.

OBJECTIVES/HYPOTHESIS: Sudden hearing loss (HL) can be caused by autoimmune disorders localized to the inner ear or secondary to systemic immune diseases. Studies in autoimmune animal strains showing HL have reported changes in the cochlear stria vascularis. The authors investigated the presence of antiendothelial cell antibodies (AECA) to see if immune-mediated vasculitis may play a role in human sudden HL. STUDY DESIGN: A prospective study in patients with sudden HL. METHODS: Fifteen consecutive patients (mean age, 32 y) affected by sudden HL and 14 normal subjects were included. Patients with familial deafness and metabolic diseases were excluded. Extensive audiovestibular, imaging, microbiological, immunological, and routine examinations were performed. AECA were detected on rat kidney tissue sections on the sera collected at -20 degrees C. RESULTS: AECA were positive in 8 of 15 patients (53%) (2 of 5 men and 6 of 10 women), thus differing significantly from the normal control population, in which only 2 of 14 tested AECA positive (P = .023). CONCLUSIONS: In patients with sudden HL, immune-mediated vascular damage can have a pathogenetic role and AECA might represent a serological marker of vasculitis.

Adolescent↗