Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.

Oral supplementation of 10 mmol/kg/day of D-ribose to a patient with an inherited deficit of adenylosuccinase, severe psychomotor retardation, and epilepsy caused a marked increase in plasma concentration and urinary excretion of urate, while minor changes in succinylpurine levels were observed. D-Ribose administration was accompanied by a slight improvement of behaviour and a progressive reduction of seizure frequency, which increased dramatically upon two attempts to withdraw the drug. Substitution of D-ribose with an equivalent amount of D-glucose did not result in an increase of seizure frequency.

Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.

Nephropathic cystinosis: ineffectiveness of cysteamine therapy for ocular changes.

The biochemical hallmark of nephropathic cystinosis is the intralysosomal accumulation of free cystine in various organs, including the conjunctiva, cornea, bone marrow, leukocytes, lymph nodes, and internal organs. A patient with the infantile form of nephropathic cystinosis develops several renal tubular malfunctions during the first year of life; these eventually lead to end-stage renal failure and eventual death by the time the patient is 10 years of age. Ocular changes are prominent and may be so typical that an early diagnosis can be achieved by an ophthalmologic examination before the nephropathic signs become evident.

Low serum tryptophan to large neutral amino acids ratio in idiopathic infantile autism.

The serum tryptophan to large neutral amino acids ratio (Try/LNAA) is considered a reliable marker of tryptophan availability for brain serotonin synthesis. A dysfunction of brain serotonergic activity has been postulated to exist in autistic disorder and supported by recent studies. On this basis, we determined the serum amino acids levels in 40 children with idiopathic infantile autism as well as in 46 control children. A significantly lower serum Try/LNAA ratio was observed in the autistic subjects compared to the normal controls. In 14 autistic children (35%) this ratio was 2 SD below the mean value obtained in the control group. These results suggest that a low brain tryptophan availability due to a low serum Try/LNAA ratio could be one of the possible mechanisms involved in the alteration of serotonergic function in autism.

Fatty acid profile of oesophageal mucosa in children with gastro-oesophageal reflux disease.

BACKGROUND: Polyunsaturated fatty acids, as precursors of eicosanoids, are involved in the pathogenesis of oesophageal mucosal damage and healing. AIMS: To evaluate a possible role of polyunsaturated fatty acids in the pathogenesis of gastro-oesophageal reflux, we assayed fatty acids profile of oesophageal mucosal specimens obtained by endoscopy in children without oesophageal disease and children affected by gastro-oesophageal reflux disease. PATIENTS: Eighteen children with normal 24-h oesophageal pH monitoring (GOR- group) and 18 children with gastro-oesophageal reflux disease (GOR+ group, eight with oesophagitis and 10 without), were included in the study. METHODS: Fatty acids were extracted from oesophageal mucosal specimens obtained by endoscopy and assayed by gas chromatography. RESULTS: In the GOR+ group we observed an increased percentage of mucosal polyunsaturated fatty acids, mainly arachidonic and docosohexaenoic acids (p<0.01), without differences between groups with and without oesophagitis. Significant positive correlation was found between reflux index and docosahexaenoic acid (r=0.805; p<0.001). CONCLUSIONS: The results obtained show that the current methods are able to reveal changes between normal and pathological mucosa that could be relevant in the pathogenesis of gastro-oesophageal reflux disease.

Food allergy and infantile autism.

The etiopathogenesis of infantile autism is still unknown. Recently some authors have suggested that food peptides might be able to determine toxic effects at the level of the central nervous system by interacting with neurotransmitters. In fact a worsening of neurological symptoms has been reported in autistic patients after the consumption of milk and wheat. The aim of the present study has been to verify the efficacy of a cow's milk free diet (or other foods which gave a positive result after a skin test) in 36 autistic patients. We also looked for immunological signs of food allergy in autistic patients on a free choice diet. We noticed a marked improvement in the behavioural symptoms of patients after a period of 8 weeks on an elimination diet and we found high levels of IgA antigen specific antibodies for casein, lactalbumin and beta-lactoglobulin and IgG and IgM for casein. The levels of these antibodies were significantly higher than those of a control group which consisted of 20 healthy children. Our results lead us to hypothesise a relationship between food allergy and infantile autism as has already been suggested for other disturbances of the central nervous system.

Red blood cell lipid peroxidation in predialysis chronic renal failure.

In hemodialysis patients the pentose-phosphate shunt activity is deficient. As a consequence, the lipid peroxidation of the erythrocyte membranes is increased as shown by the increase in malonyldialdehyde concentrations and is accompanied by a decrease of the level of vitamin E in RBC. In the present study we have found that increased lipid peroxidation of the erythrocyte membranes is present also in chronic renal failure patients in the predialysis state, provided that the serum creatinine levels are higher than 5 mg/dl.

Vitamin E supplementation in hemodialysis patients: effects on peripheral blood mononuclear cells lipid peroxidation and immune response.

Lipid peroxidation and vitamin E levels in peripheral blood mononuclear cells (PBMC) were studied in 10 patients on maintenance hemodialysis. Significant increases of PBMC malonyldialdehyde (MDA) were detected, together with low vitamin E levels. After a fifteen-day-course of parenteral vitamin E supplementation, PBMC MDA reverted to normal values, while PBMC vitamin E levels remained lower than controls. In a parallel study an immunological monitoring was performed in the same patients before and after vitamin E supplementation. NK activity and PHA blastogenesis were not influenced by treatment, while a reduction of the number of OKT8+ lymphocytes were observed after vitamin E therapy. It is tempting to speculate that peroxidative damage of PBMC cell membranes in hemodialysis patients could, by impairing their functionality, influence immune responses and expression of functionally relevant membrane determinants.

Effects of alpha-tocopherol administration on red blood cell membrane lipid peroxidation in hemodialysis patients.

The result of vitamin E treatment in 19 uremic patients in chronic hemodialysis is evaluated. In particular, the levels of erythrocyte malonyldialdehyde (MDA) and vitamin E were determined, and the fatty acid composition of red blood cell (RBC) membrane before and after treatment with parenterally administered vitamin E. A decrease of RBC MDA levels, an increase of RBC vitamin E concentrations, and a decreased saturated fatty acid to unsaturated fatty acid ratio were found after treatment with vitamin E. There was a statistically significant increase of the packed RBC volume.

Sexually active adolescents and young adults: a high-risk group for Chlamydia trachomatis infection.

BACKGROUND: The importance of travel as a risk factor for Chlamydia trachomatis infection was evaluated among a series of young people consecutively tested. METHODS: We studied 130 sexually active young subjects, aged 14-25 years, all living in the Rome, Italy, urban area. Ninety-eight females and 32 males attended hospital-based clinics or were the partners of an infected female. About half of these subjects had traveled abroad either for pleasure or for work, mostly to Europe, but also to North America or to Asia, where they admitted to having had casual sex. We used two "gold standard" methods to diagnose infection with C. trachomatis: culture on McCoy cells grown in shell vial, and direct immunofluorescence with monoclonal antibodies. Subjects were considered infected when at least one test was positive. RESULTS: Thirty-nine of 130 (30%) subjects were asymptomatic, and 27/130 (20.8%) subjects were infected with Chlamydia trachomatis, of whom 6/25 (24%) asymptomatic females and 3/14 (21.4%) asymptomatic males were infected. Among teen-aged (ages 14-19) youngsters with more than one sex partner, international travel was an additional significant risk factor for C. trachomatis infection (p<.02; OR 20; 95% CI 1.47-40%). Urethritis/cystitis and vaginal pathology/discharge were the prevalent manifestations of illness among the females, while urethritis was the only clinical condition found in the males. CONCLUSION: In a series of young subjects, travel abroad, sex with more than one partner, and teen age, combined together, were significant risk factors for the acquisition of Chlamydia trachomatis genitourinary infection.

Amoxycillin and clavulanic acid in the treatment of urinary tract infections in children.

The efficacy of amoxycillin-clavulanic acid combination in the treatment of urinary tract infections resistant, in vitro, to amoxycillin was studied in 42 children. Of the 24 children with urinary tract infection for the first time, combination therapy, dosing twice daily for 5 days (40 mg/kg.day), cleared the infection in 23 (96%) cases. Relapse occurred in four (17%) cases within 30 days. Of the 18 children who presented with recurrent urinary tract infections therapy, as above, cleared the infection in 16 (89%) cases. In these cases, long-term therapy was performed at a dosage of 20 mg/kg once daily. Tolerance was good; gastro-intestinal disorders in five (12%) cases which regressed by dosing at 8 h rather than 12 h intervals. In conclusion, amoxycillin-clavulanic acid can be considered a first choice treatment of urinary tract infections in children.

[Long-term prognosis in monosymptomatic microscopic hematuria]. / Prognosi a lungo termine della ematuria microscopica monosintomatica.

A group of 210 children, aged one to twelve years (86 males and 124 females) were sent to our Clinic with the diagnosis of microscopic hematuria. Twelve children in which microhematuria wasn't confirmed were immediately excluded; thirty children were excluded because they showed pathologic findings. The remaining 168 children were put under diagnostic examination (hematologic exams, urinoculture, abdomen radiographic, family screening). The cause of microhematuria was identified in 52 of them. The group was selected down to 116 who were then monitored for a period ranging from 1 to 9 years with periodical clinical and biohumoral controls and with diagnostic exams. Biopsies were performed only in 16 cases in which a nephropathy was suspected. Nine cases presented significant histological lesions. Seventy five children were subjected to observation for a period of over one year. After few years hematuria gradually disappeared in twenty six children. After nine years microhematuria had disappeared spontaneously in 39.9% of cases. It remained in core of 33.6% of case, for which no cause could be found. With reference to the full group of 168 children, the following pathologies have been found responsible of microhematuria: a) urinary way infections: 25 cases (14.8%) b) nephropathies: 16 cases (9.5%) c) familiar hematurias: 14 cases (8.3%) d) lithiasis: 9 cases (5.3%) e) alteration of the coagulation system: 3 cases (1.8%) f) renal hypercalciuria without lithiasis: 3 cases (1.8%) Based on these observation, we believe that careful waiting is the best tactic in the cases of monosymptomatic microhematuria.(ABSTRACT TRUNCATED AT 250 WORDS)

[Microscopic hematuria in children]. / L'ematuria microscopica nel bambino.

The AA. studied ninety children affected by microscopic hematuria whose origin was not clear. Periodic controls have been effectuated during a period from one to five years. The hematuria is spontaneously disappeared in the 46,7% of the cases. In sixteen children (17,7%) the hematuria was also present in some relatives, nine children were affected by urinary tract malformations. Only twenty subjects were affected by a significant renal pathology.

[Results of 3 or 10 days' treatment with nitrofurantoin or cotrimoxazole in urinary infections in children]. / Risultati della terapia per tre o dieci giorni con nitrofurantoina o cotrimoxazolo nelle infezioni urinarie del bambino.

110 children, affected by UTI, were included in this study; 52 of them were treated for 10 days and the remaining 58 for 3 days. Both groups were treated with cotrimoxazole or nitrofurantoin. Urine cultures were repeated soon after the end of therapy and repeated subsequently for a period of 6 months or of 1 year. There is not a great difference between the results obtained with the 10 days treatment and those of the 3 days treatment. An high percentage of relapses occurred in UTI caused by Proteus and Klebsiella.

[Lyme disease in central Italy. Description of a case of a 3-year-old girl]. / La malattia di Lyme nell'Italia centrale. Descrizione di un caso in una bambina di 3 anni.

The Authors describe a case of Lyme disease in a 3 year old child who lives in the center of Italy, in the Rome area. In this report it has been underlined the presence of Lyme disease also in central Italy and the importance of early diagnosis and therapy in order to prevent severe complications.