Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.

Background: Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease. Aim and Methods: To perform a cross sectional comparison of ECG abnormalities throughout different left ventricular hypertrophy (LVH) severity subgroups, providing ECG patterns specific of the progressive AFD stages. 189 AFD patients from a multicenter cohort underwent comprehensive ECG analysis, echocardiography, and clinical evaluation. Results: The study cohort (39% males, median age 47 years, 68% classical AFD) was divided into 4 groups according to different degree of left ventricular (LV) thickness: group A ≤ 9 mm (n = 52, 28%); group B 10-14 mm (n = 76, 40%); group C 15-19 mm (n = 46, 24%); group D ≥ 20 mm (n = 15, 8%). The most frequent conduction delay was right bundle branch block (RBBB), incomplete in groups B and C (20%,22%) and complete RBBB in group D (54%, p < 0.001); none of the patients had left bundle branch block (LBBB). Left anterior fascicular block, LVH criteria, negative T waves, ST depression were more common in the advanced stages of the disease (p < 0.001). Summarizing our results, we suggested ECG patterns representative of the different AFD stages as assessed by the increases in LV thickness over time (Central Figure). Patients from group A showed mostly a normal ECG (77%) or minor anomalies like LVH criteria (8%) and delta wave/slurred QR onset + borderline PR (8%). Differently, patients from groups B and C exhibited more heterogeneous ECG patterns: LVH (17%; 7% respectively); LVH + LV strain (9%; 17%); incomplete RBBB + repolarization abnormalities (8%; 9%), more frequently associated with LVH criteria in group C than B (8%; 15%). Finally, patients from group D showed very peculiar ECG patterns, represented by complete RBBB + LVH and repolarization abnormalities (40%), sometimes associated with QRS fragmentation (13%). Conclusions: ECG is a sensitive tool for early identification and long-term monitoring of cardiac involvement in patients with AFD, providing "instantaneous pictures" along the natural history of AFD. Whether ECG changes may be associated with clinical events remains to be determined.

Idiopathic stuttering priapism treated with salbutamol orally: a case report.

Recurrent ischaemic priapism also known as stuttering priapism is an uncommon form of ischaemic priapism, and its treatment is not yet clearly defined. If left untreated, it may evolve into classic form of acute ischaemic priapism and lead to erectile dysfunction due to fibrosis of corpora cavernosa. Several drugs have been proposed with variable results and only supported with level three or four of evidence. Hormonal therapy such as cyproterone acetate, oestrogen, bicalutamide or Lh-Rh agonist are often effective but can cause side effects such as hypogonadal state and infertility. Other medical options are 5-alpha-reductase and phosphodiesterase-5 inhibitors, ketoconazole, baclofen, digoxin, gabapentin and beta-2-agonist terbutaline. We report the first case of stuttering priapism treated with beta-2-agonist salbutamol.

MORTALITY AFTER CLINICAL MANAGEMENT OF AIDS-ASSOCIATED CRYPTOCOCCAL MENINGITIS IN KENYA.

BACKGROUND: Cryptococcal meningitis (CM) is an increasingly prevalent infection among HIV/AIDS patients and is becoming a leading cause of morbidity and mortality in Africa. The short-term prognosis and management of patients with CM may be improved by identifying factors leading to mortality in patients with CM. OBJECTIVE: To assess the clinical management and mortality associated with cryptococcal meningitis (CM) in patients with acquired immunodeficiency syndrome (AIDS) in Kenya. DESIGN: A retrospective study. SETTING: Kenyatta National Hospital and Mbagathi District Hospital, between August 2008 and March 2009. SUBJECTS: Seventy six HIV-infected patients confirmed to be CM positive. RESULTS: Results show that 30 (40%) of 76 patients diagnosed with CM died during hospitalisation after a median hospital stay of ten days (range, 2-73 days). Significant predictors of mortality in the univariate model were Mycobacterium tuberculosis (TB) co-infection (P = 0.04), having been diagnosed with a co-morbid condition such as diabetes mellitus, oral candidiasis and hypertension (P = 0.01), and a low median CD4+ T lymphocyte count (P < 0.001). The multivariable model revealed that male sex, previous or current anti-retroviral therapy (ART) at admission and CD4+ T lymphocyte count less than 50 were significant predictors of mortality. Conversely, a minimum of two weeks of amphotericin B treatment (P < 0.001), initiation of ART (P = 0.007) and monitoring of creatinine and electrolyte levels (P = 0.02) were significantly associated with survival in the univariate model. CONCLUSIONS: CM-associated mortality in Kenya is high; there is an opportunity to improve the management and the short-term outcomes of hospitalised HIV positive patients with CM in Kenya.

Tactile and Kinesthetic Stimulation (TKS) intervention improves outcomes in weanling rat bone in a neonatal stress model.

OBJECTIVES: Preterm infants are born with low bone mineral. Neonatal stress further impedes bone mineralization. Clinical evidence suggests that tactile and kinesthetic stimulation (TKS) improves bone phenotype and decreases stress response. Clinical and translational studies indicate the IGF-1 axis, responsible for postnatal growth and bone mineralization, is a key player. We hypothesized that TKS would attenuate the negative impact of neonatal stress on bone phenotype and the IGF-1 axis in weanling rats. METHODS: Neonatal stress (STRESS) or TKS (STRESS + 10min TKS) was administered from D6 to D10. Control animals received standard care. Tissue was harvested on D21. Dual energy x-ray absorptiometry (DXA) and bone morphometry were performed and serum osteocalcin, type I procollagen N-terminal propeptide (PINP), tartrate-resistant acid phosphatase (TRAP), and bone and liver mRNA levels of IGF-1, IGF-1 receptor (IGF-1R), and growth hormone receptor (GHR) were measured. RESULTS: Neonatal stress increased bone mineral content (BMC), area (BA), growth plate width, liver IGF-1 mRNA, and serum IGF-1. TKS maintained areal bone mineral density (aBMD) and bone specific IGF-1 and IGF-1R mRNA while STRESS decreased compared to controls. CONCLUSIONS: Neonatal stress results in apparent accelerated growth response. TKS differed from STRESS with improved tibia aBMD and increased bone specific IGF-1 mRNA.

Mechanical-tactile stimulation (MTS) intervention in a neonatal stress model improves long-term outcomes on bone.

OBJECTIVES: Neonatal stress impairs postnatal bone mineralization. Evidence suggests that mechanical tactile stimulation (MTS) in early life decreases stress hormones and improves bone mineralization. Insulin-like growth factor (IGF1) is impacted by stress and essential to bone development. We hypothesized that MTS administered during neonatal stress would improve bone phenotype in later life. We also predicted an increase in bone specific mRNA expression of IGF1 related pathways. METHODS: Neonatal stress (STRESS) and MTS (STRESS+10 min of MTS) were given from D6 to D10 of rat life and tissue was harvested on D60 of life. Dual energy x-ray absorptiometry (DXA), bone morphometry, serum osteocalcin, type I procollagen N-terminal propeptide (PINP), tartrate-resistant acid phosphatase (TRAP), and bone and liver mRNA levels of IGF1, IGF1 receptor (IGF1R), and growth hormone receptor (GHR) were measured. RESULTS: Stress resulted in reduced bone area and bone mineral content (BMC) compared to naive control (CTL). MTS intervention increased BMC and tibial growth plate width compared to STRESS. MTS also resulted in higher osteocalcin, and, in males, lower TRAP (p<0.05). MTS resulted in three-fold, two-fold, and six-fold higher bone specific IGF1, IGF1R, and GHR, respectively (p ≤ 0.001) compared to STRESS. CONCLUSIONS: MTS in early postnatal life improves long-term bone mineralization. IGF1 and related pathways may explain improved BMC.

Role of hemochromatosis genes in chronic hepatitis C.

PURPOSE: Hereditary hemochromatosis is commonly associated with iron overload and hepatitis C virus (HCV). Association between hemochromatosis C282Y or H63D mutation has been observed, although not uniformly, and iron overload is also commonly found in chronic HCV hepatitis. This study explored the contribution of genetic hemochromatosis to iron accumulation in hepatitis C. DESIGN: Review of current literature. RESULTS: The prevalence of increased serum iron stores in patients with HCV infection is 28% (patients having an elevated ferritin or transferrin saturation). Patients with elevated serum iron markers have more active chronic hepatitis with more liver fibrosis. In the opinion of the experts HFE mutations are not associated with a high hepatic iron content. No relation was detected between hepatic iron stores and HFE gene mutation. Significant iron deposition in the liver was uncommon and overall the quantity of iron that was detectable histologically and biochemically was unrelated to the grade and stage of HCV related liver injury. The mechanism by which liver iron accumulates in patients is unclear. CONCLUSIONS: Carriage of HFE mutations does not have a role in the accumulation of iron or the liver disease in HCV. These findings do not support a role for iron depletion in patients with chronic HCV infection, including these with elevated serum studies.

[Multicenter comparative study of meropenem vs. imipenem in the intramuscular treatment of hospital infections of the urinary tract]. / Studio multicentrico comparativo su meropenem vs imipenem nel trattamento intramuscolare delle infezioni urinarie ospedaliere.

A clinical, multicentre, randomised, comparative study in 283 adult hospitalized patients was carried out to assess efficacy of meropenem in the treatment of complicated and non-complicated urinary tract infections, in comparison to imipenem/cilastatin. Both antibiotics were administered intramuscularly, at a dose of 500 mg bid. The two groups were homogeneous, as regards the distribution between male and female, the mean age of the patients, the severity of infections and the mean duration of treatment. Clinical results were assessed at the end of therapy and follow-up (4-6 weeks). Bacteriological results were assessed at 5-9 days post-treatment and at follow-up. As regards clinical and bacteriological results patients showing a satisfactory response rate were compared, at the end of the treatments using a Chi square test. With both treatments high satisfactory clinical and bacteriological response rates were seen. As regards clinical satisfactory responses (97% of meropenem assessable patients versus 90% of imipenem/cilastatin assessable patients), there was a statistically significant difference in favor of meropenem. The bacteriological outcome was successful (eradication) for 75% of assessable patients in each group. Most failures were seen in the complicated infections, even when pathogens usually sensitives to carbapenemics were initially isolated. Safety was good with both drugs; no withdrawals in any group of treatment was seen because of side effects. The local tolerance of meropenem was globally rated as good.

Vesicovaginal fistulas: our experience and review of literature.

Vesicovaginal fistulas (VVF) still represent a sad complication of surgery of the female genital system. In this article an extensive review of the literature was conducted, analyzing the etiological, pathological and clinical aspects, as well as the therapeutical problems. For this purpose, we have compared the many surgical techniques proposed for treatment of VVF and have also evaluated their results. Furthermore, we report on our series of 35 patients who had undergone treatment for VVF.

[Surgical repair of congenital penile curvature]. / La correzione chirugica degli incurvamenti congeniti del pene.

Congenital penile curvature is not such a rare pathology and it is responsible for important aesthetic and functional problems. This malformation, can render intercourse difficult and painful, but it can be cured with a simple surgical procedure that almost always guarantees excellent results. In this work we report on the treatment of 48 patients (aged 16-34) with congenital penile curvature with a follow-up of 6 months to 10 years. The aetiology is also briefly analysed. A discussion follows on the diagnostic criteria for better interpretation of the main characteristics of this problem in relation to its functional appearance. A comparison of different surgical techniques is also shown, focusing over the procedure we perform: plissettage of the tunica albuginea. This technique is performed through a penile skin incision opposite to the maximal curvature of the organ, exposure of the tunica albuginea and the positioning of one or more series of stitches. The overall results show that 44 out of 48 patients were fully satisfied both from the aesthetic and functional points of view, while 4 were partly satisfied from the aesthetic point of view alone.

Diagnostic and therapeutic problems in multicentric renal angiomyolipoma.

Multicentric renal angiomyolipoma is a rare form of benign tumor. However, its effective incidence as evaluated in autopsy studies may be as high as 8%. There are 2 main types of renal angiomyolipoma, that is isolated forms and those associated with other diseases, such as phakomatosis, polycystic kidneys and fibromuscular dysplasia. The tumor may also display malignant behavior with local invasiveness and regional lymph node involvement. However, the clinical course is benign and multicentricity is important for prognosis. Histopathological diagnosis often is difficult. Immunohistochemical analysis of surgical specimens using a panel of monoclonal antibodies, including HMB-45 and actin, enabled us to make a definitive diagnosis in 3 cases of multicentric renal angiomyolipoma.

[Clinical and instrumental evaluation of erectile impotence: a proposal of a diagnostic protocol]. / Valutazione clinico-strumentale dell'impotenza erettile: proposta di protocollo diagnostico.

There has been increasing interest in recent years in patients complaining of erectile dysfunction. This has prompted research and the development of diagnostic procedures aimed at allowing increasingly rapid characterization of the type of impotence involved (psychogenic or organic) and thus the most effective treatment. In this preliminary study, we present our study methodology in patients with erectile dysfunction, emphasising in particular the diagnostic procedures best suited to revealing the presence of an organic cause in the pathogenesis of impotence.

[Spermatic cord torsion]. / Torsión del cordón espermático.

Torsion of the spermatic cord constitutes a surgical emergency. Morphologically and functionally, the fate of the compromised testis largely depends on the time elapsed between the acute episode and surgical intervention. Patients who had been treated for testicular torsion by our group from 1976 to 1989 were requested to return for outpatient evaluation. These patient were divided into two groups according to the time elapsed between the diagnosis and surgical intervention. We observed that surgical correction within 12 hours following presentation permitted testicular salvage. Testicular volume was generally preserved and remained normal or slightly diminished. However, when the time elapsed was over 12 hours, testicular atrophy was observed in 46% of the patients. We can conclude, therefore, that detorsion must be performed as soon as possible. Vaginalis testis eversion will generally achieve stable and lasting fixation.

[Continuous monitoring of nocturnal penile tumescence and rigidity in the evaluation of erection disorders. Preliminary data]. / Monitorización continua de la tumescencia y de la rigidez peneana nocturna en la valoración de los trastornos de la erección. Datos preliminares.

Nocturnal penile tumescence measurements continues to be an important step in the diagnosis of impaired erectile function. We present our experience with this technique employed on 65 patients who consulted at our andrologic center. Our results corroborate the importance of the NPR-R test with the Rigi-Scan in the evaluation of this pathology to ensure these patients receive the most appropriate treatment.

[Conservative surgical treatment of bilateral renal neoplasms]. / Il trattamento chirurgico conservativo delle neoplasie renali bilaterali.

Surgery seems to be the only effective treatment for bilateral kidney neoplasms as shown by the better survival rate of operated patients compared with those otherwise treated or untreated at all. The best conservative treatments, regarding radicality and security required by these neoplasms, are the enucleation and the partial in situ nephrectomy. Our study is based on 11 patients affected by bilateral kidney neoplasms; 8 of them, in which there were no signs of metastatization, have undergone surgical treatment. In 2 patients (18%) a bilateral enucleation was performed and in 6 (55%) monolateral enucleation together with a controlateral radical nephrectomy. All tumors developed simultaneously have been operated in the same session. No postoperative complications were observed except in 2 patients which developed a transient renal insufficiency. The follow up was from 2 to 66 months. All patients were examined with echotomography or CT scan at least once a year and are, up today, in good health condition and tumor free.