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Biomedical subjects

M Ceccarelli

Publications and source records attributed to M Ceccarelli.

At least 19 recordsLinked to original sources
PubMed1992

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.

Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.

Chromosome Banding↗
PubMed1992

Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine.

A sporadic event of myotonia congenita in a infant admitted to the Paediatric Clinic for frequent crises of apnoea, cyanosis, vomiting and difficult feeding is reported. EMG analysis was consistent with the dominant variety of myotonia congenita. Mexiletine therapy showed excellent results in reducing myotonic activity. It is worthwhile stressing that early symptoms may go unnoticed or may be misinterpreted and that information on the genetic form of the disease can be obtained also from the EMG analysis through a repetitive stimulation test.

Electromyography↗
PubMed1992

[Plasma L-carnitine levels in children with celiac disease].

Carnitine is a very important co-factor for the metabolism of fatty acids, because it is the necessary carrier for the passage of acyl groups inside the mitochondria, where beta-oxidation takes place. In the human body the total pool of carnitine is made by two fractions, one being endogenous and the second exogenous. The absorption of exogenous carnitine takes place mainly at duodenal-jejunal level by an active transport mechanism based on amino acid carrier. Plasma L-carnitine concentrations have been measured in 66 coeliac patients (mean age: 7 years and 4 months). Thirty three of them were on a free diet and the other 33 were on a gluten-free diet for at last six month. In 10 patients we studied plasma L-carnitine levels both on a free diet and on a gluten-free diet. As controls we examined 33 healthy children comparable for age. Plasma L-carnitine concentrations have been measured by a spectrophotometrical method according to Marquis and Fritz's technique and subsequently modified by Pearson and Seccombe. In the 66 coeliac patients the mean values of serum L-carnitine were significantly lower than those in the controls (p < 0.001). The levels were significantly lower in patients a free diet with respect to those on gluten-free diet (p < 0.01). The 10 subjects who were examined both on free diet and on gluten-free diet showed an increase of plasma concentrations in the latter condition.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1992

[24-hour esophageal pH-metry in the evaluation of gastroesophageal reflux pathology].

Gastro-esophageal reflux (GER) in infants was studied using 24-hour esophageal pH monitoring. Gastro-esophageal reflux was detected in 32/41 subjects. In our patients the main symptoms were vomiting, regurgitation, failure-to-thrive, chronic respiratory problems such as asthma, apnea, recurrent pneumonia. All patients with GER were treated appropriately with prone positioning and medical therapy (prokinetic agent and, eventually, ranitidine). Successful treatment of the reflux was obtained in all patients. In our opinion the 24-hour intraesophageal pH monitoring is a highly diagnostic test to identify the presence of GER and evaluate its gravity.

Antiemetics↗
PubMed1992

[Use of intravenous immunoglobulins in Guillain-Barré syndrome].

The aim of the study was to assess the utility of intravenous integral molecule immunoglobulin treatment in Guillain-Barré syndrome. The etiopathogenesis of this syndrome is still unclear but it seems increasingly likely that immune phenomena are involved in the genesis of the neurological lesions. This would explain the efficacy of iv immunoglobulin treatment even if the effective mechanism of action can still only be hypothesised.

Child, Preschool↗
PubMed1991

In vivo effectiveness of lithium on impaired neutrophil chemotaxis in Shwachman-Diamond syndrome.

The effect of lithium treatment on the impaired neutrophil chemotactic function of a patient affected by Shwachman-Diamond syndrome is reported. We found that (1) a cytoskeletal cellular defect seems to be involved in the impairment of neutrophil function (and perhaps of cellular secretion and chondrocyte function) in the syndrome; (2) intermittent neutropenia is always present in the syndrome, and (3) lithium seems capable, in addition to its capacity of inducing leukocytosis, of modulating leukocyte functions by modulating the microtubular system. The drug, at usual therapeutic dosage, was able to normalize neutrophil functions without side effects. As no therapy is available in this syndrome to date, our data suggest the therapeutic use of lithium in order to improve these cytoskeleton-mediated functions and the degree of neutropenia.

Chemotaxis, Leukocyte↗
PubMed1989

Recurrent meningitis: a case report.

A 25-month-old girl is described who experienced three successive attacks of purulent meningitis due to Proteus mirabilis. Third generation cephalosporins were employed as treatment. Cranial radiography and computed tomography revealed a malformation, in the form of an epidermoid cyst, in a central occipital position; small cerebellar abscesses were also present. The lesion was removed by surgery which led to a complete recovery.

Brain Abscess↗
PubMed1989

[The value of determining anti-gliadin antibodies as well as carotene and xylose blood levels in various phases of celiac disease].

The usefulness of measuring xylosaemia, carotenaemia and the antigliadin antibodies in the diagnosis and monitoring of coeliac diseases has been examined, 89 children, 57 with aspecific chronic diarrhoea and 32 with coeliachia were examined. The xylose proved less sensitive (80%) and less specific (84.2%) than carotenaemia (respectively: sensitivity 86.6% and specificity 87.7%). Nevertheless, considering the by no means negligible percentage of false positives and false negatives encountered with both techniques, it should be reiterated that these tests have a purely orientative value, whereas measurement of serum AGA may be considered a highly reliable investigation for selective children to be submitted to biopsy, considering the high sensitivity (AGA IgG 100%; AGA IgA 90.9%) and specificity (AGA IgG 85%; AGA IgA 100%) observed in the present series.

Antibodies↗
PubMed1989

[Selenium in celiac disease].

Statistically significant lower levels of selenium (p less than 0.001) have been found both in 37 celiac subjects at free diet and in 36 at gluten-free diet with respect to controls. In patients at free diet the deficit of selenium can be attributed to malabsorption, while in patients at gluten-free diet it may be due to the diet itself. Recently low serum levels of selenium have been observed in several neoplasias; furthermore it's known that celiac patients show an increased incidence of gastrointestinal tumors related to known levels in standard population. Long term monitoring is therefore necessary to integrate diet with selenium in patients showing persistent deficit of this element.

Adolescent↗
PubMed1989

[Congenital fructose 1,6 diphosphatase deficiency. Description of a case].

In describing one case of congenital fructose 1,6-diphosphatase deficiency the Authors review the several clinical conditions giving problems of differential diagnosis. For certain diagnosis they underline the importance of liver biopsy, to dose the deficient enzyme directly in the liver tissue.

Fructose Metabolism, Inborn Errors↗
PubMed1989

[Preliminary results on blood carnitine levels in children with hepatic pathology].

A deficiency of exogenous and endogenous carnitine is present in those pathologies in which the most important clinical sign is represented by weakness and steatosis. We have studied the serum levels of carnitine in 14 children with hepatic disease (8 with acute HAV hepatitis, 2 with acute HBV hepatitis, 2 with toxic hepatitis, 2 with chronic hepatitis). In patients with acute, infective and toxic hepatitis we have found levels of carnitine (25.71 +/- 2.14 nM/ml) below normal (50.87 +/- 1.46 nM/ml). In 5 cases we have performed two blood tests, at admittance to the hospital and at the end of the illness. The variability in carnitine levels in these two blood exams shows a clear correlation with clinical improvement, decrease in aminotransferase and increase in serum carnitine. In chronic hepatitis we have found normal levels of carnitine. Probably it is correlated with the absence of steatosis seen at hepatic biopsy.

Adolescent↗