A promoter mutation, C → T at position -92, leading to silent /3-thalassaemia

Summary. This study describes the clinical phenotype of the C?→? T mutation at position – 92 of the β-globin gene. Excluding two cases with HbA2 levels within the range of the /3-thalassaemia carrier state, heterozygotes for this mutation showed normal or borderline red blood cells count, Hb levels, MCV, MCH and HbA2 values, and unbalanced globin chain synthesis. Compound heterozygotes for the - 92 C → T mutation and a β° thalassaemia mutation (β°39) (two cases) or severe β-thalassaemia (p⁺ IVSII nt 745) (two cases) developed thalassaemia intermedia. According to these characteristics, the –92 promoter mutation should be added to the list of silent β-thalassaemias.     

Angiographic Correlates of Different Mechanical Effects During the Dipyridamole Echocardiography Test Shortly After Acute Myocardial Infarction

The aim of this study was to analyze the different mechanical patterns during the dipyridamole echocardiography test (DET) performed in 167 patients 8–10 days after a first myocardial infarction. The results were correlated with coronary angiography. In a first series of 98 patients retrospectively analyzed (group I), four different types of dipyridamole-induced wall-motion abnormalities were observed: (1) worsening of wall motion in the same region showing asynergy at rest (type I); (2) new wall-motion abnormality in a territory adjacent to the resting asynergies and fed by the same vessel (type II); (3) new wall-motion abnormality in a territory adjacent to the resting asynergies, but supplied by a vessel different from the infarct related artery (type III); and (4) new wall-motion abnormality not directly adjacent to the infarct zone (type IV). Type IV asynergies were found in one of 44 patients with single vessel disease and in 14 of 54 patients with multivessel disease (sensitivity 70.4%, specificity 92.3%). Type III asynergies developed in two patients with single vessel disease and in 24 of those with multivessel disease. The frequency and distribution of the four asynergy types were subsequently analyzed in a second prospective series of 69 patients (group II). Type III and IV asynergies were found almost exclusively in patients with multivessel disease (17/34 patients with multivessel disease and 2/35 with single vessel disease) (sensitivity 50%, specificity 94.3%). Combining type III and IV asynergies, an overall sensitivity of 62% and a specificity of 94% for predicting multivessel disease were obtained. The ability of DET to predict specific vessel obstruction was also investigated. A positive correlation was found only for the laterobasal segment (specificity 82% in predicting critical stenosis of the left circumflex artery [LCX]), and for the apical and distal septal segments (specificity 95% and 93% for lesions of the left anterior descending artery [LAD], respectively). A substantial overlap was noted when an attempt was made to distinguish LCX from right coronary artery (RCA) lesions. Nevertheless, new simultaneous wall-motion abnormalities of the posterobasal septal and laterobasal segments were observed in all but one patient with combined lesions of LCX and RCA (specificity 99%). In conclusion, the mechanical patterns of dipyridamole-induced new wall-motion abnormalities correlate with coronary angiography: new remote asynergies are highly specific in predicting multivessel disease, but are not frequent. New asynergies adjacent to the infarct zone can also predict multivessel disease, provided they are located in a different vascular region. The ability of DET to predict specific vessel obstructions was excellent for LAD lesions, but it was less helpful in differentiating LCX from RCA lesions. Nevertheless, new simultaneous wall-motion abnormalities of the posterobasal septal and laterobasal wall predict critical lesions of the LCX and RCA.     

Acral Melanoma Simulating Warts: Dermoscopic Clues to Prevent Missing a Melanoma

BACKGROUND: Acral melanoma may adopt a variety of clinical characteristics simulating other tumors, ulcers, hemorrhage, or infections. In the Caucasian population health care providers often misdiagnose acral melanoma, and this is the cause of inadequate treatments. Clinical and dermoscopic clues can be easily recognized, which help to prevent missing a melanoma. OBJECTIVES: To study the clinical and dermoscopic findings in three cases of acral melanoma simulating warts that had been treated by dermatologists with curettage and cryotherapy. MATERIAL AND METHODS: Clinical and dermoscopic study of the tumors and review of the most frequent simulators of acral melanoma reported in the literature. RESULTS: In all three tumors, hyperkeratosis and the lack of specific pigmentation were observed. The parallel ridge pattern, revealed by dermoscopic examination, precipitated the recognition of acral melanoma. CONCLUSION: In these cases that presented atypical characteristics of acral lesions, therefore challenging the diagnostic process, dermoscopic examination helped to confirm an accurate diagnosis of acral melanoma.     

"Peak Summation" Left Ventricular Filling Pattern in Patients with Chronic Heart Failure

In patients with chronic heart failure (CHF) and a “peak summation” left ventricular pattern, no hemodynamic and prognostic information can be drawn from Doppler examination of mitral flow. In 263 consecutive patients with CHF who were undergoing simultaneous right heart catheterization and echo-Doppler examination, we prospectively determined (1) the frequency of the peak summation left ventricular filling pattern and (2) the incremental information contributed by pulmonary venous flow velocity patterns in providing noninvasive hemodynamic profile estimation. Isovolumic relaxation time of mitral flow, peak systolic (X), diastolic forward (Y), reverse (Z) flow velocity, and systolic fraction (X/X + Y) of pulmonary venous flow were measured. Forty-six of 263 (17%) patients had a peak summation left ventricular filling pattern. This subgroup showed more clinical deterioration (New York Heart Association functional class III-IV, 57% vs 49%; P < 0.01) and left atrial dysfunction (left atrial ejection fraction, 31% vs 39%; P < 0.001). However, 40% of these patients had a pulmonary wedge pressure of> 18 mmHg and a cardiac index of < 2.2 L/min/m². The systolic fraction of peak velocities of pulmonary venous flow showed a good correlation with pulmonary wedge pressure (r = -0.70, P < 0.05). The correlation was stronger in patients without mitral regurgitation (r = -0.81, P < 0.05). A systolic fraction of < 40% was accurate (sensitivity, 100%; specificity, 95%) in identifying patients with a pulmonary wedge pressure of < 18 mmHg. In patients without mitral regurgitation, this variable was also correlated with cardiac index (r = -0.65, P < 0.05) and predicted a cardiac index of < 2.2 L/min/m² (sensitivity, 91% specificity, 71%). In conclusion, a peak summation left ventricular filling pattern is common in patients with CHF. Pulmonary venous flow provides useful information about the hemodynamic profile of these patients.     

Multicenter Clinical Evaluation of a New SSIR Pacemaker

A multicenter clinical evaluation of Sorin Swing 100, a new SSIR pacemaker with a gravimetric sensor, was performed by seven different centers enrolling a total of 89 patients, 56 men and 33 women, mean age 73.1 years, for pacemaker implantion (73 patients) or pacemaker replacement (16 patients). Pacing mode was VVIR in 73 patients and AAIR in 16. The behavior of pacing rate was evaluated 3 months after the implant by performing a 24-hour Holter monitor, an exercise stress test, and tests for the assessment of mechanical external interference (MEI). A physiological behavior of the paced rate was always observed during Holter monitoring. In 52 completely paced patients mean diurnal, nocturnal, and maximal heart rate were, respectively, 74.9 ± 5.7 ppm, 58.1 ± 5.8 ppm, and 113.4 ± 12.7 ppm; a paced rate exceeding 100 ppm was reached on the average 5.6 times/Holter monitor. In all but two patients the sleep rate (55 ppm) was reached during the night or long resting time. During exercise stress test a direct correlation between the increase in pacing rate and the increase in workload was observed; the mean maximal heart rate reached in 49 completely paced patients was, respectively, 102.8 ± 9 ppm in 17 patients who accomplished stage 1, 116.2 ± 13.6 ppm in 28 patients who accomplished stage 2, and 133 ± 6.7 ppm in 10 patients who accomplished stage 3 of the Bruce protocol. MEI testing never increased the pacing rate over the noise rate (10 ppm over the basic rate). In only seven patients the results obtained suggested to change the nominal set up of the pacemaker. Our experience clearly indicates that Swing 100 is an effective, reliable, and easy to use SSIR pacemaker. The availability of the sleep rate allows a more physiological pattern of pacing rate and can lead to significant energy saving.