Quadricuspid aortic valve: a rare cause of aortic insufficiency diagnosed by doppler echocardiography. Report of two cases and review of the literature.

Quadricuspid aortic valve is an uncommon congenital valve disease mostly occurring as isolated lesion or sometimes in association with truncal anomalies. Approximately 50% of patients with quadricuspid aortic valve have aortic regurgitation. Before the advent of echocardiography most cases were diagnosed at the time of surgery or at post-mortem examination. We describe 2 cases of patients with quadricuspid aortic valve diagnosed by echocardiography. The first case, a quadricuspid aortic valve with four equal-sized cusps (type A, according to the classification of Hurwitz and Roberts), was identified in a 26-year-old man undergoing echocardiography because of a heart murmur. The second case, a quadricuspid aortic valve with three relatively equal cusps and one smaller cusp (type B, according to the classification of Hurwitz and Roberts), was identified in a 47-year-old man with a history of murmur. The identification and periodical non-invasive evaluation of a quadricuspid aortic valve is important, because such valves are more vulnerable to infection and need adequate prophylaxis against endocarditis.     

In the Italian population sexual dimorphism affects pre-natal thyroid migration but not biochemical severity of gland ectopia and pre-natal bone maturation

The aim of the present study was to retrospectively re-evaluate a population of selected infants with congenital hypothyroidism (CH), in order to investigate whether sexual dimorphism affects: a) CH etiology; b) its biochemical severity at the time of screening and recall; c) patients' biochemical response to replacement treatment during the 1st yr of life; d) their bone maturation (BM) at birth; e) their psychomotor status at 1 yr. This retrospective study covers 192 infants (116 females) with persistent CH who were selected from a larger population of CH patients identified during a 10-yr period (1990-1999) by the screening programs of 5 northern, central, and southern regions of Italy. Thirty boys (39.5%) and 66 girls (56.9%) were found to have ectopia, whereas the remaining 46 boys and 50 girls exhibited the other causes of CH. When compared with the prevalence of the remaining causes that of ectopia was significantly higher in girls than in boys (66/116 vs 30/76; chi2=5.57, p<0.025), and sex ratio in ectopia was significantly different also compared with the orthotopic gland group only (66/84 vs 30/51; chi2=6.02, p<0.025). No differences between males and females were detected in the groups with either athyreosis or orthotopic gland. In no groups were there differences between sexes for gestational age, birth auxological data, percentage of newborns with bone retardation or developmental quotient at 1 yr. Thyroid tests at birth, age at TSH normalization and average thyroid tests under L-T4 treatment during the 1st yr did not differ between sexes in any of the groups. CONCLUSIONS: a) in the Italian population sexual dimorphism affects pre-natal thyroid migration but neither biochemical severity of ectopia, nor pre-natal bone maturation and psychomotor development; b) girls with CH do not require higher doses of initial therapy in order to achieve TSH normalization; c) future developmental and molecular studies on ectopia etiology in CH need to take into account the effect of sexual dimorphism.     

Video capsule enteroscopy in the diagnosis of celiac disease: a multicenter study

OBJECTIVES: Duodenal biopsy is the current gold standard for diagnosis of celiac disease. Videocapsule endoscopy examines the entire small bowel and allows visualization of mucosal villi. We evaluated the potential of videocapsule endoscopy in assessing the severity and extent of mucosal changes in patients with suspected celiac disease. METHODS: Consecutive patients with signs/symptoms suggesting celiac disease and positive anti-gliadin and/or anti-endomysial and/or anti-tissue transglutaminase antibodies underwent upper gastrointestinal endoscopy and videocapsule endoscopy. Duodenal biopsies were classified according to modified Marsh's criteria. Capsule findings were evaluated for the presence of lesions compatible with celiac disease (scalloping of duodenal folds, fissures, flat mucosa, and mosaic appearance). RESULTS: Forty-three patients were studied. Duodenal histology was normal in 11 and compatible with celiac disease in 32. Using duodenal histology as the gold standard, the performance characteristics of capsule endoscopy for the diagnosis of celiac disease were: sensitivity 87.5% (95% CI 76.1-98.9%), specificity 90.9% (95% CI 81.0-100%), positive predictive value 96.5% (95% CI 90.1-100%), negative predictive value 71.4% (95% CI 55.8-87%), positive and negative likelihood ratios 9.6 and 0.14, respectively. Eighteen patients had mucosal changes extending beyond the duodenum, involving the entire small bowel in three. These patients tended to have more severe symptoms, but the difference was not statistically significant. Interobserver agreement for the diagnosis of celiac disease by capsule endoscopy ranged between 79.2 and 94.4%; kappa values ranged between 0.56 and 0.87. CONCLUSIONS: Videocapsule endoscopy shows good sensitivity and excellent specificity for the detection of villous atrophy in patients with suspected celiac disease.     

Frequency,risk factors,and outcome of hyperlactatemia after cardiac surgery

STUDY OBJECTIVE: To determine the respective frequencies, risk factors, and outcomes of no hyperlactatemia (NHL), immediate hyperlactatemia (IHL), or late hyperlactatemia (LHL) > 3 mmol/L after cardiac surgery. DESIGN: Prospective and observational study. SETTING: Cardiac surgery ICU in a 130-bed private community nonteaching hospital. PATIENTS: Consecutive patients (n = 325) undergoing cardiopulmonary bypass (CPB) for cardiac surgery. INTERVENTION: None. MEASUREMENTS: Arterial blood gas levels and lactate concentrations were measured at ICU admission, 4 h after surgery, between 6 h and 16 h after surgery, and on day 1. MAIN RESULTS: Sixty-seven patients (20.6%) had an IHL on ICU admission, and 56 patients (17.2%) acquired LHL during their ICU stay. ICU mortality was 1.5% for NHL, 3.6% for LHL, and 14.9% for IHL groups (p < 0.0001). The three groups differed significantly for elective surgery, type of operation, CPB duration, intraoperative mean arterial pressure, and intraoperative and postoperative use of vasopressor. Independent risk factors for IHL were nonelective surgery, CPB duration, and intraoperative use of vasopressor. Logistic regression identified hyperglycemia and epinephrine therapy for LHL as postoperative risk factors. Receiver operating characteristic curves showed that IHL more accurately predicted ICU mortality than LHL. CONCLUSIONS: Hyperlactatemia is common after cardiac surgery. A lactate threshold of 3 mmol/L at ICU admission is able to identify a population at risk of morbidity and mortality after cardiac surgery.     

Tahini, a little known sesame-containing food, as an unexpected cause of severe allergic reaction.

We describe the case of a young woman with asthma and confirmed food allergy to sesame who had 2 severe systemic reactions after the inadvertent ingestion of tahini, a paste made with ground sesame seeds that is not generally known by physicians and patients as a sesame-containing food. A double-blind placebo-controlled food challenge confirmed the allergy to tahini in our patient. As new products and recipes are being introduced from around the world on a regular basis, it is essential that at-risk patients are able to obtain information about allergens used as ingredients and as potential contaminants. This should be applied not only to packaged food but also to freshly made foods, such as those served in restaurants.     

Effects of combination of sibutramine and l-carnitine compared with sibutramine monotherapy on inflammatory parameters in diabetic patients

The aim of the study was to evaluate the effects of 12-month treatment with sibutramine plus l-carnitine compared with sibutramine alone on body weight, glycemic control, insulin resistance, and inflammatory state in type 2 diabetes mellitus patients. Two hundred fifty-four patients with uncontrolled type 2 diabetes mellitus (glycated hemoglobin [HbA_1c] >8.0%) in therapy with different oral hypoglycemic agents or insulin were enrolled in this study and randomized to take sibutramine 10 mg plus l-carnitine 2 g or sibutramine 10 mg in monotherapy. We evaluated at baseline and after 3, 6, 9, and 12 months these parameters: body weight, body mass index, HbA_1c, fasting plasma glucose, postprandial plasma glucose, fasting plasma insulin, homeostasis model assessment of insulin resistance index, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, leptin, tumor necrosis factor-α, adiponectin, vaspin, and high-sensitivity C-reactive protein. Sibutramine plus l-carnitine gave a faster improvement of fasting plasma glucose, postprandial plasma glucose, lipid profile, leptin, tumor necrosis factor-α, and high-sensitivity C-reactive protein compared with sibutramine alone. Furthermore, there was a better improvement of body weight, HbA_1c, fasting plasma insulin, homeostasis model assessment of insulin resistance index, vaspin, and adiponectin with sibutramine plus l-carnitine compared with sibutramine alone. Sibutramine plus l-carnitine gave a better and faster improvement of all the analyzed parameters compared with sibutramine alone without giving any severe adverse effect.     

Ibutilide for cardioversion of atrial flutter: efficacy of a single dose in recent-onset arrhythmias

AIM: Ibutilide is particularly effective in rapid termination of atrial flutter (AFL) with few adverse effects. Despite the recommendation of 2 infusions, cardioversion may occur up to 70 minutes after a single dose. We investigated the feasibility, efficacy and safety of a single dose ibutilide treatment of AFL in a single-center, observational study. METHODS: Fifty-nine consecutive patients (44 males, mean age 70 +/- 12), referred to our CCU for paroxysmal AFL (mean arrhythmia duration 10 +/- 18 days), were treated with 1 mg ibutilide. In case of inefficacy, a 2nd dose could be administered 10 to 60 minutes later on the basis of the ECG examination for QTc prolongation and AFL cycle variations. Successful cardioversion was defined as sinus rhythm (SR) restoration within 2 hours. RESULTS: Forty-four patients (75%) converted to SR after ibutilide, 31 with single dose (53%, Group 1), and 13 with double dose (22%, Group 2). AFL duration was shorter in Group 1 (4 +/- 5 vs 16 +/- 29 days). The mean time to the 2nd dose administration was 34 +/- 11 minutes in responders, 51 +/- 23 minutes in non-responders. Only 3 (5%) significant adverse events, all observed after a single dose, occurred. CONCLUSION: Ibutilide is highly effective and safe, in a monitored environment, for rapid termination of AFL. Recent onset AFL may be terminated with a single infusion in many cases; yet, cardioversion should be waited for no more than 30 minutes after the end of the 1st dose, before administering the 2nd one, in order not to reduce the possibility of SR restoration.     

Response to STI571 in chronic myelomonocytic leukemia with platelet derived growth factor beta receptor involvement: a new case report

Based on its ability to inhibit the tyrosine kinase activity of ABL, as well as the c-kit and the Platelet Derived Growth Factor Receptor tyrosine kinases, the spectrum of diseases that may respond to STI571 is increasing. A recently recognized subgroup of myeloproliferative disorders/myelodysplastic syndromes (MPD/MDS) has a t(5;12)(q33;p13) with the activation of the gene for PDGFBR which encodes a receptor tyrosine kinase. Here, we present the case of a patient, with MPD/MDS, and eosinophilia, carrying a translocation t(5;12)(q33;p13) who achieved a complete remission following treatment with STI571, 400 mg daily. At the time of writing he still remains in complete remission with an excellent performance status. There is clearly a need for further studies of STI 571in MPD/MDS with chromosomal translocations involving PDGFBR to confirm this promising initial result.     

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response

Muscle quality is defined as muscle strength generated per unit muscle mass. If enzyme replacement therapy (ERT) has some effects on type II glycogenosis (GSDII) skeletal muscle pathology, we should be able to measure a change in strength and mass. We conducted a prospective study including 11 patients aged 54.2?±?11.2 years, referring to a single institution and receiving ERT for ≥2 years. Median Walton score was 3 (2.5–6). Lower limb skeletal muscles were assessed by dynamometry and quantitative muscle MRI. Three segments (anterior thigh, posterior thigh, leg) were analysed separately. Clinical-MRI correlations were searched for at T0, T6/T8, and T18/24. Changes in lean and fat body composition were assessed by bioelectrical impedance analysis. We found that the anterior thigh showed the best therapeutic response, with an improvement in muscle quality (muscle mass: +7.5%, p?=?0.035; strength: +45%, p?=?0.002). BMI and lean body mass increased (p?=?0.007). Patients with low BMI showed a better outcome. Intramuscular fat accumulation significantly progressed in spite of ERT (+3.7%, p?=?0.001), especially in the poorly responsive posterior thigh muscles. Both clinical assessment and MRI revealed a definite improvement in the anterior thigh muscles. However, progression of intramuscular fat accumulation during ERT, as well as the limited responsiveness of posterior thigh muscles, suggests the necessity for early treatment intervention. The better outcome of patients with low BMI, if confirmed, may indicate that dietary protocols could be adopted as adjuvant measures to ERT in adult GSDII.