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Biomedical subjects

R Lama

Publications and source records attributed to R Lama.

At least 37 records · Page 2Linked to original sources
PubMed2000

[Children with intestinal failure as candidates for intestinal transplantation].

Small bowel is not anymore considered a forbidden organ for transplantation, and intestinal transplantation (IT) is currently used as a therapeutic option in selected cases of permanent intestinal failure (PIF). Nevertheless, the experience is still scarce, and despite recent improvements, IT is nowadays only accepted as a life-saving option. However, small children are prone to suffer complications related to TPN, particularly end stage liver disease; moreover, suitable donor for the small baby who needs an IT is seldom available. Subsequently, a high pretransplantation mortality has been reported in the pediatric series. In those cases, the indication of IT shouldn't be delayed, and these children must be referred early for IT. Since we started our IT program, 17 children have been assessed, and 3 are currently on the waiting list; two for combined liver-small bowel transplantation (LSB), both with short bowel syndrome and end stage liver disease, and one patient with microuvillous dysplasia for isolated IT (indication loss of venous access). 3 children were referred too late and died, so did a fourth patient, candidate for LSB, before he could be transplanted.

Child↗
PubMed1998

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

3-Hydroxy-3-methylglutaric aciduria is a rare recessive monogenic disorder that affects ketogenesis and the catabolism of L-leucine. We report the biochemical and molecular characterization of a mutation in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene in four new probands, three Spanish and one Turkish, affected by 3-hydroxy-3-methylglutaric aciduria, all homozygous for the nonsense mutation Glu37Ter, which was reported by our group in two probands of Portuguese and Moroccan origin (15). In addition to the aberrant mRNAs found in the two previous probands, a novel species of mature HL mRNA was observed in the patients studied here, since a new cDNA, skipped in exons 2 and 3, was obtained from the mRNAs by reverse-transcription PCR (RT-PCR). Thus, three mRNA species were produced in aberrant splicings as a result of this nonsense mutation: (i) one of the expected size that contains the premature stop codon UAA, (ii) another with a deletion of 84 bp corresponding to the whole of exon 2, and (iii) a new species found now, with a deletion of 192 bp corresponding to skipping of the whole of exons 2 and 3, whose translation product led to the loss of seven amino acids in the leader peptide and 57 amino acids in the terminal domain of the mature enzyme. The association of a nonsense mutation with the skipping of the exon that contains it, plus the following exon, is an unusual finding not seen previously in HL deficiencies. The mutation described here shows the highest incidence (> 37%) of total HL deficiencies reported.

Child, Preschool↗
PubMed1996

Growth and height in children after liver transplantation.

To assess the linear growth after liver transplantation, height curves were constructed for 45 children who underwent liver transplantation at the Children's Hospital "La Paz", Madrid, and were followed for more than 2 years. The prednisolone dose was progressively tapered and switched to alternate-day administration at 12 months. Growth was severely impaired during daily steroid therapy but the mean growth rate normalized in the second year and a significant improvement was observed in successive years. Observations over a long period revealed fluctuating growth rates under stable or decreasing doses of prednisolone on alternate-day administration. Beyond the first year, some annual periods of abnormal growth rate occurred in 57% of the children. Marginally better posttransplantation growth was observed in children transplanted for intrahepatic cholestatic diseases. The prednisolone dose did not correlate with growth rate. In the long term, short stature was highly prevalent due to an accumulation of factors: previous disease, daily prednisolone period, inconstant growth rate under alternate-day steroid therapy, and pubertal delay.

Adolescent↗
PubMed1995

Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects.

Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature.

Bone Marrow↗
PubMed1995

Shwachman-Diamond syndrome: clinical, radiological and sonographic findings.

Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normalized pancreas. We discuss the differential diagnosis and review the literature.

Bone Marrow Diseases↗
PubMed1995

Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study.

Because somatostatin (SS) inhibits basal and stimulated gastric acid secretion and gastrin release, it is conceivable that decreased gastric SS concentration may be one of the factors responsible for hypergastrinemia found in patients formerly operated on for hypertrophic pyloric stenosis (HPS). To investigate this issue, the SS-like immunoreactivity (SLI) concentration was estimated in antral and fundic mucosal samples from control and HPS children. In addition, SS binding to cytosol from gastric mucosa (fundus and antrum), fasting serum gastrin levels, and serum gastrin response to a standard breakfast were studied. The mean fundic and antral SLI concentrations were significantly lower in HPS children than in controls. The depletion of fundic and antral SLI content was associated with an increase in the number of gastric SS binding sites. The fasting serum gastrin levels and serum gastrin responses to the standard breakfast (after 60 minutes) of HPS children were significantly higher than those of controls. Since, together with the increase of SS binding to gastric mucosa, there is an increase in the gastrin serum levels, despite the inhibitor effect of SS on gastrin release, the binding capacity cannot be the main factor determining the response to SS in children with HPS. The present results suggest that both SS and gastrin have a role in the pathogenesis of HPS.

Adolescent↗
PubMed1994

Serum gastrin level and gastric somatostatin content and binding in long-term pyloromyotomized children.

Since somatostatin inhibits basal and stimulated gastric acid secretion and gastrin release, it is conceivable that decreased gastric somatostatin concentration may be one of the factors responsible for gastric hypersecretion found in patients who have undergone long-term pylorotomy for hypertrophic pyloric stenosis. To investigate this proposal the somatostatin-like immunoreactivity concentration was determined in antral and fundic mucosa samples from control and long-term pyloromyotomized children. In addition, somatostatin binding to cytosol from gastric (fundus and antrum) mucosa and fasting serum gastrin levels and serum gastrin response to a standard breakfast were also studied. The mean fundic and antral somatostatin-like immunoreactivity concentrations were significantly lower in long-term pyloromyotomized children than in control children. The depletion of fundic and antral somatostatin-like immunoreactivity content was associated with an increase in the number of gastric somatostatin binding sites. The fasting serum gastrin levels and serum gastrin response to a standard breakfast (after 60 min) in long-term pyloromyotomized children was significantly higher than those in control children. Since, together with the increase of somatostatin binding to gastric mucosa, there is an increase in the gastrin serum levels, despite the inhibitory effect of somatostatin on gastrin release, the binding capacity cannot be the main factor determining the response to somatostatin in long-term pyloromyotomized children. The present results suggest that both somatostatin and gastrin have some pathophysiologic importance in long-term pyloromyotomized children.

Adolescent↗
PubMed1992

Helicobacter pylori infection in children: clinical, endoscopic, and histologic correlations.

We have assessed 270 consecutive patients (age range 0.8-20 years) referred for endoscopic study because of abdominal pain during 32 months. Helicobacter pylori (HP) was detected by culture in 91 cases (33.7%). HP colonization increased significantly with age (p less than 0.01). Nine patients less than 5 years of age were colonized by HP. A previous history of peptic ulcer disease in first-degree relatives was significantly more frequent in the HP-positive group (p less than 0.001). The frequency of HP positiveness as related to diagnosis was: normal, 3.3%; nonactive chronic gastritis, 100%; active chronic gastritis, 97.2%; gastric ulcer, 75%; and duodenal ulcer, 90.9% (p less than 0.001). Endoscopic nodular antritis was a frequent (67%) and specific finding; this presence was associated with that of lymphoid follicles in the histopathological study. Signs of histological activity were observed in 55.9% of the HP-positive patients. The histological colonization by HP was assessed semiquantitatively, and a significantly greater HP colonization score was observed in patients with signs of histological activity (p less than 0.001). A significant correlation was found between HP colonization score and histological score (rs = 0.574), with a significant association between the degree of HP colonization and the histologic categories (p less than 0.001). The present study suggests a pathogenic role of HP in the development of gastroduodenal disease in children.

Adolescent↗
PubMed1990

Effect of taurine supplements on growth, fat absorption and bile acid on cystic fibrosis.

We have evaluated the effect of taurine supplementation nutritional status, steatorrhea and bile acid in twenty two Cystic Fibrosis patients. Weight increased in fifty per cent and height in forty eight per cent of them. Steatorrhea improved significantly in six patients of group II. Glycine/taurine ratio was reduced. Bile acid malabsorption improved only in the patients with high degree of steatorrhea. Serum bile acid was observed significantly elevated in both groups. This results suggest that taurine supplementation can be useful adjunct from of therapy in Cystic Fibrosis patients with fat malabsorption.

Adolescent↗
PubMed1987

[Primary peptic ulcer in childhood: apropos of 16 cases].

We report a retrospective review of primary peptic ulcer disease in 16 children, 8 boys and 8 girls between 2 and 14 years of age, seen at our hospital over a 4 years and 4 months period. Endoscopy was realized in all children and revealed 7 duodenal ulcers (DU) and 11 gastric ulcers (GU) (two patients had both locations). At the initial diagnosis 5 patients were less than 6 years old with a ratio GU/DU of 4:1; in the other patients this ratio was 1:1. In children with duodenal ulcer 56.5% of them had positive family history. The commonest presenting symptoms were abdominal pain (87.5%) and acute gastrointestinal bleeding (68.7%). The follow-up period ranged from 2 to 52 months; in 13 cases follow-up was more than 1 year. Four patients (3 DU and 1 GU) older than 6 years recurred.

Adolescent↗
PubMed1986

[Anderson's disease. Apropos of a new case].

A new case of Anderson's disease in a 3-month-old black female infant is presented. This diagnosis should be considered in infants with chronic diarrhoea, fatty stools, failure to gain weight which may be present from birth, low serum cholesterol concentration (less than 70 mg/ml), low plasma triglyceride levels, and hypobetalipoproteinaemia. However, suspicion of diagnosis clinically can be certainly verified by intestinal biopsy showing characteristic epithelial cell pattern. Steatorrhoea may be effectively treated by substituting medium for long-chain triglycerides in the diet. This disorder needs to be distinguished from familial hypobetalipoproteinaemia as well as abetalipoproteinaemia, and it prognosis is good, because of absence of acanthocytosis, neurological involvement and ocular lesions.

Abetalipoproteinemia↗
PubMed1977

[Turner's syndrome (author's transl)].

Twenty cases of Turner's syndrome are presented. Ten cases showed cariotype XO, nine XO/XX and one case showed mosaicism with three cell lines one of which showed a ring chromosome (XO/XX/XXr). The clinical characteristics of syndrome and the associated malformations are appraised. Commentaries are made about ultimate height attained by this patients.

Biopsy↗
PubMedDate not supplied

Gastrointestinal peptide profile in children with celiac disease.

In order to investigate if a plasma profile of gastrointestinal peptides reflects changes in jejunal mucosa in celiac disease, we studied basal and postprandial plasma levels of gastrin, secretin, somatostatin, vasoactive intestinal polypeptide (VIP), and neurotensin in children with untreated and treated celiac disease and in a control group of children. Basal and 30-min postprandial secretin concentrations were statistically significantly lower in untreated celiac children compared to both treated celiac (p less than 0.01 and p less than 0.05, respectively) and control children (p less than 0.001). Plasma secretin levels 30 min after a breakfast meal were also statistically significantly lower (p less than 0.001) in treated celiac children with respect to the control group. In both untreated and treated celiac groups, basal and postprandial plasma levels of somatostatin and VIP were statistically significantly decreased (p less than 0.001) compared to control children. Moreover, there was a significant rise in postprandial levels of neurotensin after a breakfast meal in untreated celiac children. On the contrary, there was no rise of neurotensin in healthy children. These findings seem to indicate that determination of plasma profile of gastrointestinal peptides in children with celiac disease may be useful in monitoring the development of this disease and, thus, the number of jejunal biopsies could be decreased.

Celiac Disease↗