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Biomedical subjects

A Barabino

Publications and source records attributed to A Barabino.

At least 37 records · Page 2Linked to original sources
PubMed1996

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.

BACKGROUND: In some infants with liver disease, 3-oxo-delta 4 bile acids are the major bile acids in urine, a phenomenon attributed to reduced activity of the delta 4-3-oxosteroid 5 beta-reductase required for synthesis of chenodeoxycholic acid and cholic acid. These patients form a heterogeneous group. Many have a known cause of hepatic dysfunction and plasma concentrations of chenodeoxycholic acid and cholic acid that are actually greater than those of the 3-oxo-delta 4 bile acids. It is unlikely that these patients have a primary genetic deficiency of the 5 beta-reductase enzyme. AIMS: To document the bile acid profile, clinical phenotype, and response to treatment of an infant with cholestasis, increased plasma concentrations of 3-oxo-delta 4 bile acids, low plasma concentrations of chenodeoxycholic acid and cholic acid, and no other identifiable cause of liver disease. PATIENTS: This infant was compared with normal infants and infants with cholestasis of known cause. METHODS: Analysis of bile acids by liquid secondary ionisation mass spectrometry and gas chromatography-mass spectrometry. RESULTS: The plasma bile acid profile of the patient was unique. She had chronic cholestatic liver disease associated with malabsorption of vitamins D and E and a normal gamma-glutamyltranspeptidase when the transaminases were increased. The liver disease failed to improve with ursodeoxycholic acid but responded to a combination of chenodeoxycholic acid and cholic acid. CONCLUSION: Treatment of primary 5 beta-reductase deficiency requires the use of bile acids that inhibit cholesterol 7 alpha-hydroxylase.

Bile Acids and Salts↗
PubMed1996

Intraepithelial gamma/delta-positive T lymphocytes and intestinal villous atrophy.

We have evaluated the expression of different molecular forms of T cell antigen receptor (TcR) in duodenal biopsies of pediatric patients with different forms of villous atrophy: celiac disease, autoimmune enteropathy, intractable diarrhea of unknown origin, and severe cow milk intolerance. A panel of monoclonal antibodies recognizing alpha/beta and gamma/delta TcR (and gamma/delta TcR subsets) was used for immunostaining. The results showed an increase of T cells with gamma/delta-type TcR in celiac patients and also in patients with other forms of villous atrophy with respect to normal controls. Amongst the gamma/delta TcR-positive cells, the subset expressing the molecular product of V delta 1 region was the most represented. The gamma/delta TcR-positive T cells were mainly located within the epithelium: few of them were observed in the lamina propria. On the basis of these results, we hypothesize that the increased homing of gamma/delta TcR-positive T lymphocytes in gut epithelium observed in celiac disease is, at least in part, related to villous atrophy per se.

Animals↗
PubMed1995

Reliability of short-term esophageal pH monitoring versus 24-hour study.

The child's discomfort and the cost of overnight hospitalization are clear disadvantages of prolonged esophageal pH monitoring. The aim of this study was to verify the reliability of short recording versus 24-h testing in a pediatric series with symptoms suggestive of gastroesophageal reflux (GER) disease. A 24-h pH monitoring performed on 160 patients with either gastroenterological symptoms (n = 61), respiratory problems (n = 58), or emesis plus respiratory problems (n = 41) was reviewed. Regardless of clinical presentation, children were also classified according to age: < 12 months (n = 39), 12-71 months (n = 81), and 72-168 months (n = 40). A diurnal fraction of 6 h, including at least 2 h after a meal, was compared to the entire 24-h recording in all groups with respect to the reflux index (RI) (sum of the periods with pH < 3.9 expressed as percentage of time) and reflux/h. RIs of > 10% were considered positive in patients < 1 year of age, whereas RIs of > 5% were considered positive in other age groups. Negative predictive values of the short recording RI ranged from 71 to 90%. Positive predictive values ranged from 50 to 83%; it was unreliable for children < 12 mos (50%) and patients with emesis plus respiratory problems (64%), who were, significantly, the youngest. Reflux/h values were not in agreement for the same groups. Absence of agreement was found if the absolute value of RI was considered.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Neuronal intestinal dysplasia: clinical experience in Italian patients.

The authors present a review of 431 children biopsied and studied with the following histochemical and immunohistochemical techniques: 1) acetylcholinesterase activity; 2) alphanaphthylesterase activity; 3) S-100 protein immunohistochemical technique; 4) glyoxylic acid method. Two hundred forty-eight patients of our series presented different forms of dysganglionosis, 12 of them (4.8%) presenting neuronal intestinal dysplasia type B. In 7 cases, NID type B was diffuse, whereas in 5 recto-colonic NID type B was confined to the splenic flexure. Male:female ratio was 9:3. Familial recurrence was present in 2 of the 12 cases of our series, affected by severe neuronal intestinal dysplasia extended to the small intestine, associated with intestinal malrotation and short bowel syndrome. Four of the 7 cases of diffuse NID type B and 2 of the 5 cases of rectocolonic NID type B were surgically treated. Three patients with diffuse NID died from sepsis within the 2nd year of life. This study confirms that NID type B is a form of dysganglionosis which can be diagnosed in a Mediterranean country if histochemical techniques are applied in the study of a large series of constipated and pseudo-Hirschsprung patients. From a pathogenetic point of view, the authors compared the histochemical findings of biopsies from their series of NID patients with those of recto-colonic biopsies from patients with MEN II B syndrome. The similarity of GI symptoms in MEN II B and NID pediatric patients suggests that the two disorders could be the result of mutations affecting the same domain of the RET proto-oncogene.

Acetylcholinesterase↗
PubMed1993

Report on two patients with Costello syndrome and sialuria.

We report on 2 unrelated patients with Costello syndrome. The first is a 5-year-old girl with "coarse" face, nasal papillomata, redundant skin of feet and hands, hyperextensible hand and finger joints, curly hair, feeding problems due to oral motor apraxia, growth and psychomotor retardation. The second is a 3-year-old boy with "coarse" face, loose skin on hands and feet, curly hair, oral motor apraxia, severe growth and psychomotor retardation. In both patients urine sialic acid levels were found to be repeatedly high. The meaning of this biochemical abnormality is discussed.

Abnormalities, Multiple↗
PubMed1992

Hypertrophic gastropathy with transient sessile polyps.

We report an 8-year-old boy with hypertrophic gastropathy (HG) associated with duodenal Giardia lamblia infestation. The follow-up was complicated by the development of gastric polyps at the site of previous biopsies that spontaneously disappeared within 15 months. Despite the histological similarity, the different course between Ménétrier's disease (MD) in adults (chronic, with frequent development of sessile or pedunculate polyps) and HG (uncomplicated and usually spontaneously resolving) suggests a different pathogenesis. Viral (cytomegalovirus) and bacterial (Helicobacter pylori) infections have been described in association with HG and they could play an important pathogenetic role. The term HG better defines the childhood disease in which a conservative management is recommended.

Animals↗
PubMed1991

Comparative effects of long-term therapy with captopril and ibopamine in chronic congestive heart failure in old patients.

Little is known concerning the long-term drug management of chronic heart failure (CHF) in old patients (greater than or equal to 75 years). Accordingly, this double-blind, placebo-controlled trial compared the long-term (over 6 months) effect of captopril (37.5-75 mg/day) and of ibopamine (150-300 mg/day) on exercise testing, symptoms and subjective feeling of well-being, in 150 CHF elderly patients (mean age 75 years) under treatment with digitalis and/or diuretics. During an additional open follow-up of approximately 1.5 years, morbid events and deaths were also recorded. Captopril and ibopamine performed better (p less than 0.01) than placebo, improving the 6-min walking distance (captopril from 300 to 404 m, ibopamine from 282 to 385 m; placebo from 283 to 299 m). NYHA status, symptom score and patients' global assessment. The difference between the active study drugs was not statistically significant (p greater than 0.05). Complicating events, including diuretic use, frequency of hospitalization, worsening of CHF and deaths, were grouped by patient-years. These events were significantly (p less than 0.01) lower (captopril: 28/75 patient-years; ibopamine 33/74 patient-years) in the active treatment groups with respect to placebo (58/96 patient-years). Captopril and ibopamine showed a different safety profile. Creatinine increase (2 patients), symptomatic hypotension (4 patients), hyperkalemia (2 patients) and upper respiratory symptoms were mostly associated with captopril treatment. Gastrointestinal adverse events were observed in 11 patients under ibopamine treatment. The study provides evidence of the clinical usefulness of both captopril or ibopamine in the long-term treatment of CHF in old patients. The safety profile of each drug will suggest the preferred therapeutic application.

Aged↗
PubMed1991

Scanning electron microscopy study of small bowel biopsies in chronic diarrhoea in childhood.

In this study we have compared the results of Scanning Electron Microscopy (SEM) with Light- and Stereomicroscopy in a series of small bowel biopsies in children. In 9 cases displaying features of partial or subtotal atrophy, Light and Dissecting-Microscopy yielded similar results. The distinction between coeliac and non-coeliac chronic diarrhoea was only possible on clinical grounds, and by the immunological detection of specific antibodies. On SEM however coeliac patients showed characteristic alterations consisting of: absence of villi; prominent crypt outlets resulting in a mosaic appearance; concentric furrows running all around the openings; and downy brush feature at high power. The microvilli were loosely distributed and had an irregular pleomorphic outline; they often displayed a drumstick swelling of the tip and were bent. In contrast, non-coeliac chronic diarrhoea cases were characterized by a thick mucous layer on the mucosal surface, that made it impossible to visualize further changes. Peculiar vascular changes in lymphangiectasia and in sickle beta thalassemia could be detected only by Light Microscopy. In addition, in the lymphangiectasia case SEM allowed the detection of enteroadherent bacteria; and in the lambliasis case, of pseudomembranes. Absence of glycocalyx was noted both in controls and in patients. The results of this study point to a diagnostic utility of SEM particularly in the differential diagnosis of chronic diarrhoea; moreover they suggest that enteroadherent bacteria may not be pathogenic and that the absence of glycocalyx is not specific for allergic enteropathy as previously claimed.

Adolescent↗
PubMed1990

Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

Arthrogryposis↗
PubMed1990

An atypical paediatric case of malignant atrophic papulosis (Köhlmeier-Degos disease).

A new case of malignant atrophic papulosis (Köhlmeier-Degos disease) is reported. Vascular symptoms began at 17 months of age with cerebral ischaemia and progressive involvement of fingers and toes with torpid ulcers and apical necrotic amputations. At 6 years of age he developed chronic intestinal ischaemia with malabsorption and a new cerebral attack; in spite of anti-aggregant therapy the disease progressed and he died 7 months after diagnosis from a third cerebral ictus. Since the typical skin lesions of the disease were absent, the diagnosis was made on the basis of a pathological pattern of an occluded biopsied artery. The elder brother presents clinical and instrumental vascular involvement without cutaneous lesions and could be slightly affected.

Arterial Occlusive Diseases↗
PubMed1990

A new syndrome with cerebro-oculo-skeletal-renal involvement.

We report on an infant male who presented with microcephaly of prenatal onset, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy, abnormal eye movements and nystagmus. In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes. The natural history of his condition included severe postnatal failure to thrive, lack of development of psychomotor milestones, intractable seizures, terminal renal insufficiency with early death. Such spectrum of phenotypic abnormalities has never been reported before and we suggest that it may represent a new syndromic entity. The differential diagnosis with the oculo-skeletal-renal syndromes, with the osteodysplastic primordial dwarfism of the Taybi-Linder type and with the Hutterite cerebro-osteo-nephrodysplasia, is discussed.

Abnormalities, Multiple↗
PubMed1989

Expression of HLA-class II antigens and proliferative capacity in autologous mixed lymphocyte reactions of human T lymphocytes exposed in vitro to alpha-endorphin.

alpha-Endorphin (aEP) inhibited the expression of HLA-Class II antigens by PHA-primed T lymphocytes and reduced mitogen-induced T-cell proliferation up to 35%. This action was time related and not naloxone sensitive. When aEP was added to autologous and allogeneic lymphocyte cultures (both of non-T/T and T/T type), it inhibited lymphocyte blastogenesis up to 40%. These findings, indicating that aEP can influence some functions of immunocompetent cells, provide evidence for the functional interrelationship between the neuroendocrine and the immune systems.

Adult↗
PubMed1986

Blunted response of serum aldosterone to metoclopramide in the male elderly.

Serum aldosterone values were determined in 6 elderly (70-82 years) and in 6 adult (31-43 years) male subjects after the intravenous administration of 10 mg of metoclopramide. A significant difference in the metoclopramide-induced serum aldosterone rise was found between the two groups, it being blunted in the older subjects (serum aldosterone peak values: 15.8 +/- 3.6 ng/dl and 38.7 +/- 4.9 ng/dl in elderly and in adult subjects, respectively). The existence of an impaired aldosterone secretion in response to dopaminergic blockade in the elderly is postulated.

Adult↗