Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, intellectual disability and immunodeficiency. Here we report on one RSTS patient who experienced hemophagocytic lymphohystiocytosis (HLH) and disseminated herpes virus 1 ( HSV-1) disease. The clinical picture of RSTS is expanding to include autoinflammatory, autoimmune, and infectious complications. Prompt treatment of HLH and disseminated HSV-1 can lower the mortality rate of these life-threatening conditions.

Follow up in a developing country of patients with complete atrio-ventricular block.

AIM: The purpose of the study was to assess the incidence and survival rate of patients with complete atrio-ventricular block in the cardiac centre of St Elizabeth Catholic General Hospital, Kumbo, Cameroon. METHODS: Between 2009 and 2011, 26 patients with complete atrio-ventricular block were diagnosed at our institution. Complete atrio-ventricular block was defined as complete heart block, diagnosed by echocardiographic or electrocardiographic documentation of the dissociation between electrical activity of the atria and ventricles. Hospital charts, electrocardiograms (ECG), echocardiography and chest radiography were reviewed. RESULTS: The triad of symptoms that pointed to the diagnosis of complete atrio-ventricular block was mainly fatigue, shortness of breath on mild physical exertion, and dizziness. The median age at diagnosis was 65 ± 15 years. The escape rhythm showed a narrow QRS complex in 35.2% of patients, whereas wide QRS complexes were seen in 64.8%. In only 15 patients were pacemakers implanted: dual-chamber in 10 and single-chamber in five cases, depending on the availability of the pacemakers. During the observational period, five non-implanted patients died, giving a mortality rate of 45%. We recorded no deaths in patients with pacemakers. CONCLUSION: In developing countries, natural selection is observed in patients with complete atrio-ventricular block. Lack of infrastructure and early detection, and financial limitations are the main problems faced in the follow up of these patients. Re-organisation of the public health system, new programmes for the prevention of cardiovascular diseases, and government subsidisation are needed in our milieu.

[Adult with congenital heart disease: an overview]. / L'adulto con cardiopatia congenita--introduzione.

The improvement of surgical procedures over the past 40 years has changed the medical history of the congenital heart defect. It is estimated that 85% of children with congenital heart disease now have the opportunity to reach adulthood and that this percentage will increase over the next two decades. This special issue of the Journal aims to offer a basic information on key topics of this field of cardiology not newer, but still rapidly evolving.

[Arrhythmias in adult patients with congenital heart disease]. / Le aritmie nei pazienti adulti con cardiopatia congenita.

Arrhythmias are the main cause of morbidity and mortality in adult patients with congenital heart disease. Arrhythmias can be due to the primary anatomical defect or they can be a consequence of the long term effects of haemodynamical defects and surgical repairs. Atrial arrhythmias are the most frequent form and their prevalence varies between 10-60% in different congenital defects. Ventricular tachycardia are less common but they have potentially a dramatic impact on survival. When correcting the haemodynamic defect is not effective in avoiding arrhythmias complications, it is necessary to apply specific therapy. Antiarrhythmic drugs must be used very carefully, there is an increasing application for transcatheter or surgical ablation and device implantation.

Whole-brain histogram and voxel-based analyses of diffusion tensor imaging in patients with leukoaraiosis: correlation with motor and cognitive impairment.

BACKGROUND AND PURPOSE: Cerebral white matter changes, termed leukoaraiosis (LA), appearing as areas of increased signal intensity in T2-weighted MR images, are common in elderly subjects, but the possible correlation of LA with cognitive or motor deficit has not been established. We hypothesized that histogram and voxel-based analyses of whole-brain mean diffusivity (MD) and fractional anisotropy (FA) maps calculated from diffusion tensor imaging (DTI) could be more sensitive tools than visual scales to investigate the clinical correlates of LA. MATERIALS AND METHODS: Thirty-six patients of the Leukoaraiosis and Disability Study were evaluated with fluid-attenuated inversion recovery for LA extension, T1-weighted images for volume, and DTI for MD and FA. The extent of LA was rated visually. The normalized total, gray, and white matter brain volumes were computed, as well as the 25th percentile, 50th percentile, kurtosis, and skewness of the MD and FA maps of the whole brain. Finally, voxel-based analysis on the maps of gray and white matter volume, MD, and FA was performed with SPM2 software. Correlation analyses between visual or computerized data and motor or neuropsychologic scale scores were performed using the Spearman rank test and the SPM2 software. RESULTS: The visual score correlated with some MD and FA histogram metrics (P<.01). However, only the 25th and 50th percentiles, kurtosis, and skewness of the MD and FA histograms correlated with motor or neuropsychologic deficits. Voxel-based analysis revealed a correlation (P<.05 corrected for multiple comparisons) between a large cluster of increased MD in the corpus callosum and pericallosal white matter and motor deficit. CONCLUSIONS: These results are consistent with the hypothesis that histogram and voxel-based analyses of the whole-brain MD and FA maps are more sensitive tools than the visual evaluation for clinical correlation in patients with LA.

Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study.

Magnetic resonance (MR) techniques enable in vivo measurement of the atrophy of the brainstem and cerebellum in spinocerebellar ataxia type 1 (SCA1) and 2 (SCA2) patients, which is accompanied by a decrease in the concentration of N-acetyl aspartate (NAA) or of the NAA/creatine ratio in the pons and cerebellum. Mean diffusivity (D) is emerging as an additional sensitive and quantitative MR parameter to investigate brain diseases. In order to explore differences between the MR features of SCA1 and SCA2 and correlate the MR and clinical findings in the two conditions, we examined 16 SCA1 patients, 12 SCA2 patients and 20 healthy control subjects. The MR protocol included T1-weighted 3D gradient echo sequences, single-voxel proton spectroscopy of the right cerebellar hemisphere (dentate and peridentate region) and of the pons with a PRESS sequence and an external reference quantitation method, and (in nine patients with SCA1 and nine patients with SCA2) diffusion-weighted echo-planar images with reconstruction of the D maps. The patients were evaluated with the Inherited Ataxia Clinical Rating Scale (IACRS). Compared with control subjects, the SCA1 and SCA2 patients showed a decrease (P < 0.01) in the volume of the brainstem and cerebellum and in the concentration of NAA in the pons and cerebellar hemisphere, whereas D of the brainstem and cerebellum was increased. No significant difference was observed between the SCA1 and SCA2 patient groups. No correlation between cerebellar volume and dentate and peridentate NAA concentration was found in SCA1 or SCA2 patients. The volume of the brainstem, D of the brainstem and cerebellum and the concentration of NAA in the pons were correlated (P < 0.05) with the IACRS score in SCA1 but not in SCA2. This discrepancy is in line with the clinical observation that the clinical deficit has a later onset and faster progression in SCA1 and an earlier onset and slower progression in SCA2, and suggests that neurodegeneration of the brainstem is a comparatively more rapid process in SCA1. In conclusion, our study indicates that SCA1 and SCA2 substantially exhibit the same MR features. The correlation in SCA1 between clinical severity and quantitative volumetric, diffusion MRI and proton MR spectroscopy findings in the brainstem indicates that these measurements might be employed for longitudinal studies and hopefully as surrogate markers in future pharmacological trials of this condition.

[Cor triatriatum dextrum resulting from the persistence of embryonic remnants of the right valve of the sinus venosus: prevalence and echocardiographic aspects in a large consecutive non-selected patient population]. / Pseudocuore triatriato destro da persistenza di residui embrionari della primitiva valvola del seno venoso: prevalenza ed aspetti ecocardiografici in un'ampia popolazione consecutiva non selezionata.

BACKGROUND: Cor triatriatum destrum is a rare congenital malformation, usually associated with complex right heart abnormalities, characterized by a membrane that divides the right atrium into two chambers. It is considered the result of the incomplete and abnormal regression of the embryonic right valve of the sinus venosus. When the valve regresses the cephalic portion forms the crista terminalis and the caudal portion develops into the Eustachian and Thebesian valve. With an incomplete regression, a fenestrated or an unfenestrated membrane may persist in the right atrium. We describe the clinical and echocardiographic characteristics of this type of remnants in the right atrium. METHODS: In a 4-month period, 1728 transthoracic two-dimensional and Doppler echocardiographic studies were consecutively performed. RESULTS: Twenty-seven patients (16 males, 11 females, mean age 55 +/- 21 years, range 1-87 years) were occasionally recognized to be affected by a membrane inside the right atrial cavity. On the basis of its echocardiographic appearance (a membranous structure connecting the orifice of the inferior vena cava to the atrial septum with evident fenestration in 74% of cases), absence of associated congenital abnormalities (92.5% of cases), interatrial shunt or abnormal flow pattern of venous systemic return, a diagnosis of a normal benign anatomic variant of sinus venous remnants (similar to the so-called "Chiari's network") could be made in every case. CONCLUSIONS: The incomplete regression of the embryonic right valve of the sinus venosus may leave a fenestrated or an unfenestrated membrane in the right atrium that should be considered a normal benign variant of the so-called "Chiari's network".

Blood lipids in Italy. Regional differences.

Serum cholesterol and triglyceride levels have been evaluated in samples from fasting males aged 20--59 in Northern (Brisighella), Central (Rome) and Southern (Pozzuoli) Italy. Regularly performed quality controls between laboratories assured comparability of data. A statisitically significant difference of mean serum cholesterol and triglyceride levels was observed for most age-groups in the 3 different areas, lower values being found in the southern population as compared to the central and northern ones. These results support previous findings and the thesis that large differences in blood lipid levels may still exist even within the same country and that they at least in part may be culturally determined in connection with different dietary habits.