Biomedical subjects

A Romorini

Publications and source records attributed to A Romorini.

5 recordsLinked to original sources

PubMed2000

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified. We report here that heterozygote mutations in LMNA, the gene for AD-EMD, may cause diverse phenotypes ranging from typical EMD to no phenotypic effect. Our results show that LMNA mutations are also responsible for the recessive form of the disease. Our results give further support to the notion that different genetic forms of EMD have a common pathophysiological background. The distribution of the mutations in AD-EMD patients (in the tail and in the 2A rod domain) suggests that unique interactions between lamin A/C and other nuclear components exist that have an important role in cardiac and skeletal muscle function.

Adolescent↗

PubMed1995

[Abdominal propriospinal myoclonus of unknown etiology].

We report the case of a 77-year-old woman with a two-year history of abdominal non rhythmic myoclonus. Neurological examination was normal. Bursts of myoclonic activity were recorded from the rectus abdominis muscle and then from the external oblique muscle after a delay of 40 ms. Magnetic resonance imaging of dorsal spine revealed T7-T8 and T9-T10 disc protrusions without root compression. Electroencephalography, back-averaging-EEG, brain computed tomography scan, motor and sensory evoked potentials revealed no abnormality, thus ruling out the possibility that the myoclonic jerks might be of cortical origin. Electromyography of the rectus abdominis and external oblique and of the T7-T8 paraspinal muscles did not show signs of denervation. Therefore a peripheral origin of the myoclonus could be excluded. In our patient the difference in latency of the EMG activity between the external oblique and the rectus abdominis muscles was possibly due to the caudal propagation of the myoclonus by slowly conducting pathways, supporting the hypothesis for its propriospinal origin, even though a known ethiologic factor could not be identified.

Abdominal Muscles↗

PubMed1988

[Cardiac involvement in scleroderma].

It has been analyzed seven patients, five females and two males, affected by progressive systemic sclerosis. Their ages range from 35 to 60 years. Three of them correspond to the CREST syndrome named variant. There were made: physical examination, electrocardiogram, echocardiogram and radionuclide techniques such as: Thallium perfusion (T201) and ventriculography (Tc99). The cardiac examination of all the patients showed: Left myocardiopathy in six patients, as well right myocardiopathy in two of them. Four patients were affected by chronic cor pulmonale, due to pulmonary hypertension. All the patients had developed diffuse thallium perfusion defects as well, having abnormal resting left ventricular function in three patients and function abnormality from right ventricle in two patients. It is necessary to point out the importance of making such study systematically, even in the case cardiac symptoms absence.

Adult↗

PubMed1987

[Cardiac repercussions in the CREST syndrome].

Two females patients with CREST syndrome associated with cardiac involvement are reported. One of them has pericardial effusion just shown by echocardiography with patterns of cardiomyopathy of ventricular cavities, the latter as primary myocardial involvement, in the absence of pulmonary or systemic hypertension. The second patient has chronic cor pulmonale secondary to pulmonary hypertension verified by electrocardiography and echocardiography. It is emphasized the utility of the echocardiography and the importance of those anomalies that can lead to the patient's death, transforming the CREST towards a syndrome with potentially but late, severe systemic involvement.

Adult↗

PubMed1985

Biochemical and clinical evaluation of a new cellulose diacetate secondary filter for cascade filtration.

We have performed 24 cascade filtration treatments in 8 patients with hyperviscosity syndrome (2 cases), essential mixed cryoglobulinemia, post-hepatitic cryoglobulinemia, Sjogrens disease, rheumatoid vasculitis, Miller-Fisher syndrome and chronic dysimmune polyneuropathy. New cellulose diacetate filters were employed, giving a satisfactory performance. At 1.5 L plasma treatment, the rejection rate for macromolecular plasma components was close to 90%, whereas albumin recovery was close to 70%. Treatments were clinically effective, confirming that cascade filtration is an alternative to conventional plasma exchange in patients with IgM or immune complex mediated diseases.

Blood Viscosity↗