Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency.

MyoAdenylate Deaminase Deficiency (MADD) is a relatively common metabolic disorder of the skeletal muscle. Patients with MADD usually show an impaired bioenergetic production and a clinical spectrum with either exercise-induced muscle pain, fatigue and/or rhabdomyolysis. Left ventricular hypertrophy as well as other types of cardiac involvement have been reported in patients with primary MADD. We describe herein a case of a 61-year-old woman with biochemical and genetic evidence of Myo-Adenylate Deaminase deficiency, in whom we found a right ventricular hypertrophic cardiomyopathy leading to severe outflow tract dynamic obstruction.

Molecular detection of Leptospira interrogans in human tissues and environmental samples in a lethal case of leptospirosis.

A forensic case of suspected Leptospirosis with fatal course was resolved by the molecular detection of Leptospira interrogans in postmortem human tissues and in environmental samples. Polymerase chain reaction analysis and DNA sequencing confirmed the clinical diagnosis of Weil syndrome, and the death was considered to be an occupational accident with all the legal implications.

Phylogeographic structure and past history of the circum-Mediterranean species Tomicus destruens Woll. (Coleoptera: Scolytinae).

Phylogeographic studies are often focused on temperate European species with relict footholds in the Mediterranean region. Past climatic oscillations usually induced range contractions and expansions from refugial areas located in southern Europe, and spatial distribution of genetic diversity show that northward expansions were usually pioneer-like. Actually, few studies have focused on circum-Mediterranean species, which probably were not influenced in the same way by climatic oscillations. We present the phylogeography of the bark beetle Tomicus destruens, which is restricted to the whole Mediterranean basin and the Atlantic coasts of North Africa and Portugal. We systematically sequenced 617 bp of the mitochondrial genes COI and COII for 42 populations (N = 219). Analysis revealed 53 haplotypes geographically structured in two clades, namely eastern and western clades, that diverged during the Pleistocene. A contact zone was identified along the Adriatic coast of Italy. Interestingly, we found contrasting levels of genetic structure within each clade. The eastern group was characterized by a significant phylogeographic pattern and low levels of gene flow, whereas the western group barely showed a spatial structure in haplotype distribution. Moreover, the main pine hosts were different between groups, with the Aleppo-brutia complex in the east and the maritime pine in the west. Potential roles of host species, climatic parameters and geographical barriers are discussed and the phylogeographic patterns are compared to classical models of postglacial recolonization in Europe.

Congestive heart failure in hypertensive patients with normal systolic function and dynamic left ventricular outflow obstruction.

BACKGROUND: Hypertensive patients with left ventricular hypertrophy and normal systolic function can develop congestive heart failure refractory to conventional drug therapy with digoxin, diuretic, and vasodilators. METHODS: We studied 8 patients with a history of systemic hypertension (6 females and 2 males, mean age 69+/-6 years), affected by New York Heart Association (NYHA) class IV congestive heart failure notwithstanding conventional drug therapy with digoxin, diuretic, and vasodilators. After clinical history and physical examination, blood chemistry including cardiac enzymes, arterial blood gases, chest roentgenogram, standard 12-lead ECG, and complete echocardiographic study were performed in all patients. RESULTS: In all cases, a left ventricle with increased wall thickness, normal cavity size, and normal or supernormal systolic function was shown. All patients had left ventricular systolic dynamic obstruction, with peak gradient between 36 and 130 mmHg (mean 83+/-31). After having stopped treatment with nitrates, digoxin, and diuretics, drug therapy with calcium channel antagonists or beta-blockers was started, and rapid clinical improvement with disappearance of left ventricular outflow obstruction was observed. CONCLUSIONS: Sometimes, a distinction between several forms of heart failure is clinically impossible. However, when conventional therapy is not effective in patients with longstanding history of systemic hypertension and ECG signs of left ventricular hypertrophy, diastolic heart failure and/or dynamic left ventricular obstruction should be suspected. Thus, an early echocardiographic study should be performed.

Twenty-four hour heart period variability in systemic sclerosis.

OBJECTIVE: In patients with systemic sclerosis (SSc), an autonomic dysfunction has been implicated in the pathogenesis of Raynaud's phenomenon and gastrointestinal symptoms. To evaluate cardiovascular autonomic function we analyzed the heart rate variability (HRV) on 24 h electrocardiogram recordings. METHODS: In 50 patients diagnosed with SSc and 24 control subjects HRV was analyzed for both frequency and time domain. RESULTS: Frequency domain analysis showed reduction of low frequency and high frequency values in the patients with SSc compared to controls (5.52 +/- 0.74 vs 6.04 +/- 0.78 In(ms2), p = 0.007; and 4.17 +/- 0.97 vs 4.74 +/- 0.97 In(ms2), p = 0.021, respectively). Analysis in time domain showed no significant differences in any variable between groups. There were no significant differences between the diffuse and the limited form of SSc. Number of ventricular ectopic beats, prevalence of frequent ventricular ectopy, and supraventricular tachycardia episodes were increased in the patients with SSc compared to controls. CONCLUSION: Spectral analysis of heart period variability suggests cardiovascular autonomic dysfunction in patients with SSc. Better understanding of this complication could help delineate new strategies for the treatment of SSc.

Atrial septal aneurysm and cardiac arrhythmias.

Atrial septal aneurysm has been associated with thromboembolic events, interatrial shunting, mitral valve prolapse, and systolic click. An association between atrial septal aneurysm and cardiac arrhythmias has been also described. Twenty patients with atrial septal aneurysm and 19 control subjects performed 24-h Holter monitoring. Frequent (> 10/h) atrial premature beats were observed in seven patients vs. none of the controls (P = 0.008). The mean number of episodes of supraventricular tachycardia and the prevalence of ventricular tachycardia were also higher in the atrial septal aneurysm group (P = 0.044 and P = 0.046, respectively). Left atrial enlargement, mitral valve prolapse and left ventricular hypertrophy were more frequent than in the normal subjects. In conclusion, atrial and ventricular 'complex' arrhythmias occurred more frequently in patients with atrial septal aneurysm than in normal subjects. Further studies in patients with atrial septal aneurysm without other associated echocardiographic abnormalities need to be done to ascertain a potential arrhythmogenicity of this condition.

[Fibrous dysplasia of the jaws. The literature and a presentation of 2 cases]. / Displasia fibrosa dei mascellari. Letteratura e presentazione di due casi.

After an analysis of the literature, the clinical, roentgenographic, anatomopathologic and therapeutic features of fibrous dysplasia of the jaws have been described. Two cases have been presented: a fifteen-year-old boy affected by a monostotic form of the right maxilla and a nineteen-year-old girl affected by a craniofacial variety, restricted to the right zygomatic and maxilla bones.

[Periodontal osseous defects treated with tricalcium phosphate]. / Difetti ossei parodontali trattati con tricalcio-fosfati.

A five year clinical research, dealing with advanced periodontal disease, leads the author to assert that periodontal pocket grafts with the so called "osteogenic" material tricalcium phosphate results in unsuccessful outcomes, especially if compared to the success of simple non surgical procedures, consisting of repeated scaling and curettage.