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Biomedical subjects

L Bruni

Publications and source records attributed to L Bruni.

88 records · Page 5Linked to original sources
PubMedDate not supplied

[Chronic normocalcemic constitutional tetany: clinic and etiopathogenic aspects. Description of a case].

Tetany is a state of hyperexcitability of the central and peripheral nervous system due to abnormal concentrations of serum electrolytes. However tetanic individuals without any detectable abnormalities, are also encountered. This last condition has been named "chronic normocalcemic tetany or spasmophilia". The case here reported, allows the authors to review the literature concerning normocalcemic tetany and let them focus on two similar and sometimes overlapping entities, spasmophilia and hyperventilation syndrome, both common causes of recurrent, atypical symptoms and tetany.

Calcium↗
PubMedDate not supplied

[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature].

The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.

Child, Preschool↗
PubMedDate not supplied

[Cardiac arrhythmias and mitral valve prolapse in childhood. Therapeutic considerations].

Our report concerns 18 cases of mitral valve prolapse, all documented by M-mode and D2-mode echocardiographic study. Of these patients three presented severe cardiac arrhythmias and therefore therapeutic treatment was necessary. One of them presented repeated episodes of paroxysmal supraventricular tachycardia and premature supraventricular and ventricular contractions. In another the arrhythmia consisted of numerous ventricular premature contractions. The third presented a sinus tachycardia which necessitated pharmacological treatment. In this study we have examined several forms of arrhythmias associated with mitral valve prolapse and discussed the antiarrhythmic therapy with quinidine, verapamil, amiodarone and propranolol. Since most people with mitral valve prolapse are young, arrhythmia suppression therapy might subject them to a course of treatment for possibly several decades. Therefore, the physician must weigh the risk of antiarrhythmic therapy against the risk of morbidity without therapy in each individual patient.

Adolescent↗
PubMedDate not supplied

[Trisomy 18 with unusual clinical and chromosome features].

The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.

Abnormalities, Multiple↗
PubMedDate not supplied

[Hypoplasia of the renal artery as a cause of renovascular hypertension. A case report].

The authors report the case of an 8-year-old Libyan boy who presented with hypertension, episodes of vomiting and headaches during the past year. Routine blood tests, including nitrogen and urea clearances, were normal; an ultrasound scan and a urography demonstrated a left kidney smaller than the right. Further tests were carried out to evaluate the morphology and the function of the kidney; a scintigraphy confirmed the hypoplasia of the left kidney with reduction of the glomerular filtration rate. The arteriography of the abdominal aorta was decisive, confirming not only the hypoplasia of the left kidney, but also the presence of a hypoplasic renal artery. The latter appeared to be uniformly hypoplasic, with no signs of segmentary stenosis. This fact suggested the hypothesis of renovascular hypertension caused by a hypoplasia of the renal artery. The medical treatment with enalapril gave good results, with normalization of the pressure levels after 5 days of administration. However, only nephrectomy is able to give excellent long-term results.

Child↗
PubMedDate not supplied

A case of pediatric systemic lupus erythematosus with early onset and unusual serologic and clinical findings.

The authors report on a case of Pediatric Systemic Lupus Erythematosus (SLE) in a female child aged 3 1/2 with a set of peculiar clinical and serologic characteristics; early onset of the disease, non-specific clinical signs, high serum levels of IgG and a clinical course characterized by the absence of renal neurological and articular involvement.

Child, Preschool↗