PubMed Health⌕ Search

Biomedical subjects

C Granata

Publications and source records attributed to C Granata.

At least 55 records · Page 3Linked to original sources
PubMed1988

Surgical correction of cervical hyperextension in rigid spine syndrome.

The rigid spine syndrome is a condition characterized by a mild axial and proximal myopathy in which the fibrous shortening of spinal extensor muscles causes a marked limitation in flexion of the spine. This 10-year-old boy with rigid spine syndrome showed a progressive limitation in flexion of the cervical spine with fixed hyperextension of the neck. To look forward he had to bend forward his trunk flexing hips and knees. An X-ray study demonstrated a progressive limitation in flexion but also in extension of the cervical spine. A particular radiologic aspect named "Alligator sign" was demonstrated. The hyperextension of the neck was corrected surgically by opening the interspinous spaces from C2 to C7 through a capsulotomy. The correction was stabilized with bone grafts fixed to the spinous processes. This boy with the straightened cervical spine was then able to look forward without any compensatory posture.

Cervical Vertebrae↗
PubMed1988

[Postoperative external biliary fistulas: personal case series].

Over the period 1974-1986, five patients with external biliary fistulas were admitted to our clinic. The fistulas set in as complications of surgical operations due in 3 cases to a Kehr drainage of the common bile duct, in 1 case to drainage of a subhepatic abscess and in 1 case to pancreatic hydatid cyst. The causes of onset of the fistulas are reported as well as the therapy adopted in each case.

Biliary Fistula↗
PubMed1987

Non-progressive central core disease with severe congenital scoliosis: a case report.

An extremely unusual case of central core disease combined with a congenital spine deformity is described. The congenital myopathy was non-progressive, but the scoliotic curve worsened markedly. This case was characterised also by the type of squatting ambulation the child used until the age of 12, when the limb contractures were corrected surgically and with casting, permitting her to walk in an upright position. It was not feasible to perform spinal surgery.

Biopsy↗
PubMed1987

Promotion of ambulation of patients with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses.

Seven children with spinal muscular atrophy aged between 20 months and four years, none of whom had ever walked, were fitted with knee-ankle-foot orthoses. All the children could sit unsupported and therefore were at point 9 on the Vignos functional scale. Two children achieved autonomous walking, three assisted walking and the remaining two could stand without aid. During the follow-up period there was no progression of weakness and neither scoliosis nor contractures developed.

Braces↗
PubMed1987

[Cardiologic evaluation in a family with Emery-Dreifuss muscular dystrophy].

Emery-Dreifuss muscular dystrophy is an X-linked recessive condition characterized by mild muscular weakness predominantly in a humero-peroneal distribution with variable facial involvement. Onset is in childhood with slow progression of weakness. The disease is often associated with cardiac involvement, mainly with bradyarrhythmias which might be responsible for sudden death. The most striking finding derived from the literature is the high incidence of sudden death; in the 7 large families described, out of the 79 reported patients 32 died suddenly at a young age (between 25 and 56 years). We performed a cardiologic evaluation of 11 subjects of a large italian family with affected males in four generations: 5 affected males (3 adults and 2 boys), 3 carriers and 3 healthy relatives (2 females and 1 male). Supraventricular arrhythmias were documented either in the dystrophic males or in the carriers. There was no correlation between the severity of cardiac rhythm abnormality and the severity of muscular weakness in the affected males, 3 of whom required pacemaker insertion. All the carriers were free of muscular involvement, but showed arrhythmias of variable degree, in one case requiring pacemaker insertion. In conclusion our data indicate an extremely high incidence of bradyarrhythmias, sometimes serious, in patients with Emery-Dreifuss muscular dystrophy. Holter monitoring is therefore mandatory and electrophysiological study is sometime necessary. Because of the high risk of sudden death in adult patients, we recommend permanent pacemaker implantation even in asymptomatic subjects, as soon as bradyarrhythmias are detected.

Adolescent↗
PubMed1986

A linkage study of Emery-Dreifuss muscular dystrophy.

We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15. This is in agreement with the previously reported linkage between a disorder strongly resembling EDMD and colour-blindness (Thomas et al. 1972), suggesting that there is a second locus on the X chromosome concerned with muscle integrity.

Adolescent↗
PubMedDate not supplied

Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature.

Clinical and laboratory data of five cases of Emery-Dreifuss muscular dystrophy in three generations of a family are reported. Severity of the myopathic picture varied in the five patients considerably from almost noninvolvement to severe manifestations. In contrast, cardiomyopathy was severe not only in three adults but also in a 13-year-old boy. A review is given of 73 cases from the 6 major families reported in the literature. Most striking is the high incidence of sudden death. A wide variability in the severity of the myopathic picture was also evident.

Adult↗
PubMedDate not supplied

Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families.

Bethlem myopathy is an apparently rare early-onset benign autosomal dominant limb-girdle myopathy with contractures of the fingers. To determine whether this disorder is unrecognized rather than rare we used muscle computerized tomography (CT) and isokinetic muscle testing and assiduously sought contractures of the fingers in relatives of two patients with the disease. CT showed that muscle impairment was mild but more diffuse than clinically apparent and showed an unexpected progressive degeneration of lumbar paravertebral muscles. The isokinetic test showed that the quadriceps was more involved that the hamstrings. In addition we found that contractures of the last four fingers progressed centripetally with age from the distal interphalangeal joints to the wrist. As a result we proved that 15 of the 21 examined subjects had the disease, 7 of them being unaware that anything was amiss. Careful examination may reveal that Bethlem myopathy is more common than is now thought.

Adolescent↗
PubMedDate not supplied

[Soft tissue sarcoma in childhood: local treatment in patients under 3 years of age. Analysis of the RMS-88 multicenter study].

The purpose of this report is to describe the treatment and the outcome of patients affected by soft tissue sarcomas and enrolled in the Italian Cooperative Study RMS 88, whose age was less than 36 months. In particular the role of local treatment is discussed, considering that RT was not recommended by the protocol. The 104 patients, 70 affected by RMS and 34 by NR-STS, were grouped according to the Intergroup Rhabdomyosarcoma Staging (IRS) system. The general guidelines of the study for the local treatment included surgery in Gr I, surgery + radiotherapy (40 Gy) in Gr II, surgery (1 or more procedures) + radiotherapy (45-54 Gy) in Gr III, but RT was not recommended for patients < 3 years. RMS: The 5 patients in Gr I did not receive RT: 4/5 are alive NED and 1 is lost at FU. Among the 5 patients in Gr II, 5 did not receive RT and are alive NED; 4 were given RT and 2 of these died of disease. In the 56 patients in Gr III, RT was utilized in 25: 5 died of disease and 6 manifested distant sequelae due to RT. 10/31 patients who were not given RT, did not undergo any other local treatment and died of disease; 4 patients died after surgery only. NRSTS: 7/9 Gr I patients are alive (1 was treated with RT and did not present sequelae); 1/9 died and 1 is lost at FU. 3/6 Gr II patients are alive (1 after RT), 2 died of disease and 1 is lost at FU. 2/19 Gr III patients were given RT and 1 died of disease; 3 of the not irradiated patients died without any local treatment, 4 after surgery only. CONCLUSION: The local treatment was important for patients' outcome: only 28% of the RMS and 36% of the NRSTS patients who were not treated with surgery a/o RT are in CR. Surgery was not particularly aggressive (6 mutilating procedures). RT was utilized in 33/104 patients and sequelae were 7. The difference in overall survival between patients less than 3 and patients more than 3 is not statistically significant.

Child, Preschool↗
PubMedDate not supplied

[An association between anorectal malformations and Down's syndrome].

Down's syndrome is the most frequent chromosomal anomaly in humans and sometimes is associated with anorectal anomalies. The anorectal malformations include many varieties of anatomical anomalies, which are often difficult to evaluate. The Authors believe preoperative CT or MRI of the pelvis, together with other clinical and radiological examination to be a valid mean in the preoperative prognostic evaluation. In this study they analysed the association of anorectal malformations and Down's syndrome and the absence of a genito-urinary or perineal fistula.

Anal Canal↗
PubMedDate not supplied

Fractures in myopathies.

The paper reports the results obtained in a study on the frequency of fractures in patients affected with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, types II and type III; the patients were observed between 1974 and 1988 at the muscle clinic of the Rizzoli Orthopaedic Institute. Out of a total of 238 cases, 36 (15.1%) reported one or more fractures during the follow-up period. For each fracture, age, functional capacity, the particular circumstances in which fractures occurred, site and type of fracture, medical treatment and consequences were all considered. A protocol for fracture prevention in neuromuscular patients is proposed, and suitable methods of treatment suggested.

Adolescent↗
PubMedDate not supplied

Hip dislocation in spinal muscular atrophy.

Hip conditions in 49 patients affected with spinal muscular atrophy were studied: 35 of these were affected with the intermediate form of the disease (patients were able to sit but not walk), and 14 with the mild form (patients were able to walk). The Perkins method was used to measure the migration percentage of the femoral head. Thirty-one percent of the patients affected by the intermediate form of the disease had normal hips, 38% had unilateral or bilateral subluxation, 11% had hip dislocation. In the mild form of the disease, 50% of the patients had normal hips, 28% had unilateral or bilateral subluxation, and 22% had a hip dislocation. In the intermediate form of the disease there was a linear correlation between migration percentage and age, and between migration percentage and scoliosis. In the patients affected with the mild form of the disease who were able to walk, and in the patients affected with the intermediate form and fitted with orthoses who were able to stand, or to walk, there was no hip dislocation. Hence, walking with or without orthoses seems to be an important factor in preventing hip dislocation.

Child↗