STATINS TREATMENT AND ORO-DENTAL ASPECTS IN A CASE OF HEREDITARY HYPERCHOLESTEROLEMIA IN A CHILD UNDER 6 YEARS.

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received off-label treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.

Value of immunohistochemical investigation in the diagnosis of neuromuscular diseases in children.

UNLABELLED: Neuromuscular diseases represent an important group in pediatric pathology. Immunohistochemistry together with clinical examination and morphologic exam are very important in the diagnosis of neuromuscular disorders. PATIENTS AND METHODS: One hundred children diagnosed with neuromuscular disorders were included in a prospective-retrospective study in 25 years. RESULTS: There were 58 neurogenic diseases and 42 muscular dystrophies. In positive and differential diagnosis very important were the morphologic and immunohistochemical investigations. Seventy-three percent had positive family history and 27% of dystrophic patients had "de novo" mutations. The most part of the neurogenic disorders were spinal motor atrophies, 91.38%. CONCLUSIONS: Neurogenic muscular diseases were the most common neuromuscular diseases in our patient group. The immunohistochemical investigation was very useful in diagnosing some of these cases.

Clinical effects of erdosteine in the treatment of acute respiratory tract diseases in children.

Erdosteine has positive effects on mucus rheology and transport due to the active metabolite (Metabolite I) which contains a free thiol group. Erdosteine inhibits bacterial adhesiveness and has antioxidant properties. A synergistic effect of erdosteine with various antibiotics has been demonstrated in pharmacological and clinical studies. The present study was multicenter, randomized, double-blind and placebo-controlled. The aims of the study were to compare a combination of erdosteine with amoxicillin against an amoxicillin-placebo combination in pediatric patients with acute lower respiratory tract disease. A total of 158 patients (78 in the erdosteine group and 80 in the placebo group) were treated for 7 +/- 2 days. The efficacy parameters were cough (primary), polypnea, rhonchi, rales and body temperature (all measured at baseline, on Day 3 and at the end of treatment). Safety was assessed by strictly monitoring the occurrence of adverse events and using standard laboratory parameters. The results of the intention-to-treat analysis showed that the severity of cough was decreased by 47% at Day 3 in the erdosteine group with a statistically significant difference compared to placebo, the difference was still significant at the final visit. The decrease in the severity of rales was significantly greater at Day 3 in the erdosteine group than in the placebo group. The incidence of polypnea and rhonchi in the two groups showed similar decreases, an improvement mainly due to the antibiotic. No adverse events occurred and no adverse changes in laboratory parameters were observed. It is concluded that the combination of erdosteine and amoxicillin is a safe medication which is clinically superior to that of the antibiotic combined with placebo, especially in regard to the effects on cough.

The response in hemagglutinoinhibiting antibodies following influenza vaccination of HIV-infected children.

The study investigated the response in hemagglutinoinhibiting antibodies (HI) induced by the purified inactivated trivalent influenza vaccine prepared for the epidemic season 1996-1997, administered to a group of 24 human immunodeficiency virus (HIV)-infected children as compared to a group of HIV seronegative controls. The titres of serum HI antibodies were determined before and 30 days after vaccination. The evolution of the immune response in HIV seropositive children showed significant increases against all the antigenic components of influenza vaccine both as concerning the geometrical mean titres of HI antibodies and the protection rate (titres > or = 1:40). However, the amplitude of the immune response reported in the HIV seropositive group was lower, but insignificantly as compared to the HIV seronegative control group. No association between the individual response in HI antibodies and the determined amount of CD4' T lymphocytes was noticed.

Viral etiology of acute respiratory infections in infants and young children.

114 children with acute respiratory infections were investigated to detect the viral etiological agents. The following methods were used: the direct immunofluorescence technique for the rapid diagnosis from tracheobronchial aspirates and the serological reactions--hemaglutinoinhibition and complement fixation reaction--to determine the increase of antibodies titres. Of 55.2% respiratory infections with a viral etiology, 60.3% represent acute infections of the lower respiratory tract. Due to the influenza epidemic reported between October 1996 and February 1997 (with a higher number of cases than in the last 5 years), most viral respiratory infections were caused by influenza viruses (57.14%). The direct immunofluorescence technique proved to be sensitive and specific in detecting the viral etiological agents which caused respiratory infections. Thus, using this technique, a positive diagnosis was made in 68.2% of cases, of which 49.2% were positive by the hemagglutination and complement fixation reactions, too. The test specificity could have been higher if the pathological products had been prelevated within the first three days after the onset of the disease.

Acute hemiplegia in one infant.

A previously healthy 9-month-old girl, obese (12,500 gm) with sudden onset of hyperthermia (40 degrees C), generalized tonic-clonic seizures, followed by focal seizures, drowsiness, left facial nerve palsy, left lagophthalmos and mydriasis is presented. CT-scan and MRI suggested temporal-parietal infarction due to Sylvian artery occlusion in a 9-month-old infant with familial hypercholesterolemia (type 2 A dyslipidemia). The possibility of a cerebral abscess or herpetic encephalitis was considered. Negative clinic and serologic results excluded this diagnosis. The management of the symptomatology was made with parenteral antibiotics, anticonvulsive and antioedematous cerebral therapy. Favourable evolution with residual left hemiparesis after 30 days, when the child was discharged. CT-scan reevaluation (after 5 months of evolution) showed a hypodense temporal-parietal area abnormality due to a right ischemic infarction.

Humoral immunity in Down's syndrome.

Carried out on 57 outpatients, the study was aimed to prove the existence of a disgammaglobulinemia in Down's syndrome. The event could not be attributed to hospitalization. Data indicate increased A and G immunoglobulinemias. In agreement with other authors Ig A level was found to be very high especially after the age of 5. Ig M titre in patients was reduced in comparison with that of the controls, regardless of the age group. Increase timing of IgA and Ig G concentrations tends to be more marked for the Ig A fraction. In patients ranging from 0 to 5 years the Ig A serum level is deficient.