Effect of vitamin D and calcium supplementation on bone turnover in institutionalized adults with Down's Syndrome.

OBJECTIVE: To assess the status of vitamin D and the effects of calcium and vitamin D3 supplementation on the bone metabolism in a group of adults with Down's syndrome (DS). DESIGN: Randomized, parallel, controlled and open clinical trial. SETTING: Institution for mentally handicapped: Fundación Uliazpi, Diputación Foral de Guipúzcoa, San Sebastián, Spain. SUBJECTS: A total of 23 persons with DS, residents at the Uliazpi Foundation were recruited and all completed the study. INTERVENTION: In all, 12 participants were randomly allocated to receive 1 g of calcium and 800 IU of vitamin D once daily for 1 year while 11 were assigned to the control group, receiving no supplementation. RESULTS: We found no differences between groups regarding serum calcium and phosphorous levels. The remaining parameters showed differences between the two groups consistent with a beneficial effect of the intervention: serum levels of parathyroid hormone, osteocalcin and crosslaps diminished while serum 25 OH vitamin D3 level increased. CONCLUSIONS: The results obtained allow to include people with DS as a risk group with regards to vitamin D deficit, which that can be corrected with vitamin D and calcium supplementation, and giving rise to an improvement of the biochemical markers related to the phospho-calcium metabolism and bone remodelling.

HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease.

The contribution of HLA genes to the genetic risk for celiac disease (CD) has been known for a long time. Recent publications have pointed to the possibility that a second, independent susceptibility locus could be located in the same genomic region, and a triplet repeat polymorphism in exon 5 of the gene MHC class I chain-related protein A (MICA; located between TNFA and HLA-B) has been associated with several autoimmune disorders, including type 1 diabetes mellitus (DM1) and Addison's disease. On the other hand, a single amino acid change in exon 3 of MICA (M129V) has been shown to strongly reduce MICA binding to NKG2D, an activating natural killer receptor expressed also on T cells, and this could have significant effects on autoimmune reactions. In this study, we have analyzed the contribution of these polymorphisms to CD in 37 Basque families, and have constructed MICA-HLA-DRB1 haplotypes to determine whether MICA has an effect independent from the HLA class II conferred risk. In our population, HLA-DRB1*0301 was associated with an increased risk for CD, while HLA-DRB1*1501 conferred protection from the disease (OR: 7.38 and 0.06, respectively). On the other hand, MICA allele A4 was positively associated with the disease (OR: 4.69) whereas allele A9 showed a trend towards protection (OR: 0.18), although significance did not hold after correction. No association of the exon 3 biallelic polymorphism was observed. A positive allelic association was found for haplotypes A5.1-DRB1*0301 (associated with risk for disease), A4-DRB1*0301 and A6-DRB1*07. In view of our results, both HLA-DRB1 and MICA are associated with CD, but stratification analysis did not show any independent contribution of the MICA polymorphisms analyzed to CD risk. Besides, MICA allele A4 (also A5.1 was associated with risk for CD and other diseases) is in strong linkage disequilibrium with HLA-DRB1*0301. Finally, the major histocompatibility complex region's conferred susceptibility to CD, at least in Basque, is very similar to that observed for DM1, with shared risk and protective haplotypes.

[Digital computerized absorptiometry in the diagnosis of osteoporosis in a group of the severely mentally retarded]. / La absorciometría digital computarizada en el diagnóstico de la osteoporosis en un grupo de deficientes mentales graves.

BACKGROUND: The loss of bone mass after a certain age is a physiological fact that, in certain circumstances, is capable of inducing osteoporosis. In the diagnostic strategies for this condition, densitometry is a well-accepted technique now widely used. On patients with severe mental retardation, a number of circumstances come into play and may foster a greater frequency of osteoporosis. GOAL AND SCOPE OF STUDY: The goal of the study is to identify the bone mineral density values in a group of severe mentally retarded individuals using a digital densitometry technique in order to compare these with the general population and investigate the possible influence on these values of certain clinical variables and therapeutic regimens. VOLUNTEERS: One hundred and ninety-two patients of both sexes and treated at an institution devoted to the study and care of severely mentally retarded individuals. ACTIONS TAKEN: In all cases, the bone mineral density value has been obtained by means of digital densitometry using a compact desktop system using dual X-ray absorption measurement technology The data obtained have been contrasted with sex, age, degree of mobility and anti-epilepsy or sedative medication. RESULTS: In the population under study, the bone mineral density is significantly lower than that of the general population: 25% present osteopenia and 22% osteoporosis. These results are associated with the fact that they move little and are regularly taking phenobarbital medication. The population with Down's syndrome is also seen to be a group at risk. CONCLUSIONS: Osteoporosis is frequent among severe mentally retarded patients. The greatest risk is associated with insufficient mobility, Down's syndrome and regular medication with phenobarbital. Digital densitometry is a simple procedure that may be useful to identify the true dimension of this problem and the efficacy of the various preventive or curative procedures put forward.

La absorciometría digital computarizada en el diagnóstico de la osteoporosis en un grupo de deficientes mentales graves / Computerized digital absorption measurement in the diagnosis in the diagnosis of osteoporosis in a group of severly mentally retarded patients

Antecedentes: La pérdida de masa ósea es a partir de cierta edad un hecho fisiológico que en determinadas circunstancias es capaz de producir osteoporosis. En las estrategias de diagnóstico de la enfermedad, la densitometría es una técnica acreditada cuyo empleo se ha generalizado. En los deficientes mentales graves concurren una serie de circunstancias que podrían favorecer una mayor frecuencia de casos de osteoporosis. Objetivo y ámbito de estudio: El objetico del estudio es conocer los valores de la densidad mineral ósea en un grupo de deficientes mentales graves mediante una técnica de densitometría digital, compararlos con la de la población general e investigar la influencia que sobre ellos tienen algunas variables clínicas y pautas terapéuticas. Sujetos: Ciento noventa y dos pacientes de ambos sexos atendidos en una institución dedicada al estudio y cuidados de deficientes mentales graves. Intervenciones: En todos los casos se ha obtenido el valor de la densidad mineral ósea mediante densitometría digital realizada con un equipo compacto de sobremesa que emplea tecnología de absorciometría dual de rayos X. Los datos obtenidos se han puesto en relación con el sexo, la edad, el grado de movilidad y las medicaciones antiepiléptica y sedante. Resultados: La densidad mineral ósea es en la población estudiada significativamente inferior a la de la población general. El 25 por ciento presenta osteopenia y el 22 por ciento osteoporosis. Estos resultados están asociados con el hecho de no moverse y de tomar fenobarbital como medicación habitual. La población con síndrome de Down se perfila también como grupo de riesgo. Conclusiones: La osteoporosis es frecuente entre los deficientes mentales graves. El mayor riesgo se asocia a la movilidad deficiente, al síndrome de Down y al fenobarbital como medicación habitual. La densitometría digital es un procedimiento sencillo que puede ser útil para conocer la dimensión real de este problema y la eficacia de los diferentes procedimientos preventivos o curativos que se propongan (AU)

Background: The loss of bone mass after a certain age is a physiological fact that, in certain circumstances, is capable of inducing osteoporosis. In the diagnostic strategies for this condition, densitometry is a well-accepted technique now widely used. On patients with severe mental retardation, a number of circumstances come into play and may foster a greater frequency of osteoporosis. Goal and scope of study: The goal of the study is to identify the bone mineral density values in a group of severe mentally retarded individuals using a digital densitometry technique in order to compare these with the general population and investigate the possible influence on these values of certain clinical variables and therapeutic regimens. Volunteers: One hundred and ninety-two patients of both sexes and treated at an institution devoted to the study and care of severely mentally retarded individuals. Actions taken: In all cases, the bone mineral density value has been obtained by means of digital densitometry using a compact desktop system using dual X-ray absorption measurement technology The data obtained have been contrasted with sex, age, degree of mobility and anti-epilepsy or sedative medication. Results: In the population under study, the bone mineral density is significantly lower than that of the general population: 25% present osteopenia and 22% osteoporosis. These results are associated with the fact that they move little and are regularly taking phenobarbital medication. The population with Down’s syndrome is also seen to be a group at risk. Conclusions: Osteoporosis is frequent among severe mentally retarded patients. The greatest risk is associated with insufficient mobility, Down’s syndrome and regular medication with phenobarbital. Digital densitometry is a simple procedure that may be useful to identify the true dimension of this problem and the efficacy of the various preventive or curative procedures put forward (AU)

Probiotic supplementation reduces the risk of bacterial translocation in experimental short bowel syndrome.

BACKGROUND/PURPOSE: Probiotics are live organisms that survive passage through the gastrointestinal tract and have beneficial effects on the host. Lactobacillus and Bifidobacterium have been recommended for cholesterol lowering, acute diarrhea, prevention of cancer, or inflammatory bowel disease. On the other hand, after massive bowel resection, bacterial overgrowth is frequent and favors bacterial translocation (BT). The possible beneficial effects of Bifidobacterium lactis (BL) administration on BT in experimental short bowel syndrome (SBS), have not been investigated. The aim of this study was to test the hypothesis that BL administration decreases BT in SBS in animals fed orally. METHODS: One hundred twenty-eight adult Wistar rats fed orally with standard rat chow and tap water "ad libitum" were maintained in individual metabolic cages for 10 days and divided into 3 groups: control group (n = 71): nonmanipulated animals; RES group (n = 39): 80% gut resection from 10 cm beyond the angle of Treitz to 10 cm above the cecum; RES-PRO group (n = 18): same resection and daily 7.8 x 10(8) CFU B Lactis administration, after orogastric intubation. At the end of the experiment they were killed, and mesenteric lymph nodes (MLN) and peripheral and portal blood specimens were recovered and cultured. Bacterial identification in blood was made by conventional methods, and MLN culture was considered positive with a growth over 100 CFU/g. RESULTS: Bacterial translocation was detected in 6% of control group rats. The incidence of BT in the RES group was 87% (34 of 39), whereas only 50% (9 of 18) of RES-PRO animals had BT (P <.05). The relative risk reduction (RRR) was 0.43 (95% Cl 0.14 to 0.72), and the number needed to treat (NNT) was 3 (95% Cl 2 to 8). In other words, animals that received BL had the risk of BT reduced by 43% (RRR of 0.43), and of every 3 animals treated, 1 is expected to be free of BT (NNT of 3). CONCLUSION: Administration of B Lactis reduces the incidence of BT in adult Wistar rats after 80% gut resection.

[Bioelectric impedance in the nutritional evaluation of mentally deficient quadriplegic adults]. / La impedanciometría en la valoración nutricional en deficientes mentales cuadripléjicos adultos.

Severely mentally retarded persons with cerebral palsy show a high rate of acute and chronic malnutrition. Without discarging other factors which might be at play, caloric intake deficiency stemming from the difficulties involved in being fed appear to play a crucial role in its etiology. In the assessment of these disorders, anthropometry is limited by the lack of adequate reference values and by the difficulty or impossibility of measuring height using the conventional method. The purpose of this study is to see how changes in body composition brought about by an increase in dietary caloric intake are perceived by both anthropometry and biolectrical impedance analysis. To do so, 13 subjects were selected from a group of 203 severely mentally retarded persons made up of 25% cerebral palsy patients and 13% quadriplegics. The 13 subjects were fed orally without tubes and all had tricipital skinfolds of less than P25. All 13 were given a 25% caloric increase over the regular diets for a period of two months. This increase was provided by means of a polymeric, normoproteic, hypercaloric preparation. Weight and brachial perimeter showed significant increases coinciding with the administration of the supplement. Theses increases were not noticeable two months after discontinuing the supplement. There were no significant changes in tricipital and subescapular skinfolds, muscular circumference of de mid-arm, resistance, reactance, or the total body an extracellular water calculated from the latter two values. From these results we deduce that biolectrical impedance analisys offers no advantages over anthropometry in monitoring the nutritional status of quadriplegics.

Non-endoscopic method to obtain Helicobacter pylori for culture.

A sampling method to collect samples for Helicobacter pylori culture that is easier than endoscopy would be useful. We used a capsule attached to a highly absorbent nylon string, which is swallowed to obtain gastric secretions. Antral biopsy and string specimens, sequentially obtained from 36 adults with clinically suspected ulcer or gastric disease were cultured. 9 (25%) patients were negative in both tests; 18 (50%) were positive by both methods; 6 (17%) were biopsy positive and string-test negative; and 3 (8%) were biopsy negative and string-test positive. The new test is useful, simple, and causes little discomfort.

Down's syndrome and celiac disease.

The association between Down's syndrome (DS) and autoimmune diseases has long been recognized. However, its relationship to celiac disease (CD) has only recently been reported, and a clear-cut association remains to be fully established. We have studied the prevalence of CD in a random sample of 70 individuals with DS. IgA anti-gliadin antibodies (IgA AGAs) were determined in all and found to be positive in nine (13%). In eight, anti-endomysium antibodies (AEAs) were investigated, and jejunal biopsies were performed. AEAs were positive in two, and three had flat intestinal mucosa. The class I and II human leukocyte antigens of two patients with CD were determined. Results were as follows: A2/B8 B39/DR1 DR3/DQW1 DQW2 in one case and A2 A28/B44 B17/DR4 DR5/DQW3 in the other. This implies a 43% prevalence of CD in DS, which is well above that previously found by us in our population (0.62/1,000 live births). We conclude that the association between DS and CD is not fortuitous and suggest that the determination of such serologic markers as IgA AGA and AEA should be part of health assessment in DS patients.

[Helicobacter pylori infection and duodeno-gastric reflux]. / Infección por Helicobacter pylori y reflujo duodeno-gástrico.

We have studied and measured the duodenogastric reflux in 11 children with chronic abdominal pain and Helicobacter pylori (HP) through 24-hours gastric pH-metric studies. All parameters evaluated: Number of reflux episodes (NR 92.87 +/- 27.66), number of reflux episodes longer than 5.0 minutes (NR > 5M 11.45 +/- 4.68), longest reflux episode (LR 67.37 +/- 45.57) and alkaline reflux area (AA 604.89 +/- 443.54) had significative differences against a normal group (40 children). We concluded that duodenogastric reflux and HP are frequent together.

[Cholelithiasis in childhood. Proposals based on a multicentric study]. / Colelitiasis en la infancia. Propuestas de un estudio multicéntrico.

Fifty six cases of cholelithiasis in patients aged two months to 15 years (mean age 7.65 years) concerning to 11 hospitals are reviewed. The study protocol followed was the same in all medical records, although own criterions were considered on management performed in each center. From the cases, it follows: 1. Male/female rate is 1/1.5. 2. Symptomatology in infancy is relatively poor and pain localization is not orientative. 3. It was an incidentally finding in 41 per 100 of the cases. 4. Ultrasonography is the best examination procedure rendering diagnosis in the 51 cases it was underwent. 5. Hematologic study was abnormal in six of 46 cases. 6. Medical treatment was not performed in any hospital. 7. Existence of "lithogenic families" seems to be demonstrated. 8. The presence of four patients with Down syndrome in this series must be pointed out. 9. Among total 56 cases, 21 underwent surgical treatment, 29 were conservatively treated, two have died and four patients had spontaneous stone resolution. 10. In the face of these, we propose: A) Surgical treatment in symptomatic cases, porcelain gallbladder and nonfunctionating gallbladder. B) Expectant management and sonographic monitoring in asymptomatic cases. C) Carefully evaluation in patients with predisposing factors and patients with recurrent abdominal pain.

Differential expression of lymphocyte function-associated antigen (LFA-1) on peripheral blood leucocytes from individuals with Down's syndrome.

We analysed the expression of lymphocyte function-associated antigen LFA-1 on the cell surface of peripheral blood lymphocytes, monocytes and granulocytes from 20 children with Down's syndrome. No differences in LFA-1 expression was found within monocytes or granulocytes from either normal or Down's syndrome children; however, a clear-cut difference was observed on lymphoid cells. Both normal and Down's syndrome lymphocytes displayed a bimodal pattern of LFA-1 staining by flow cytometry, with a predominance of cells with low expression in normal population, and an increased proportion of lymphocytes with high level of LFA-1 expression in Down's syndrome children. This difference correlates well with the abnormal proportion of T cell subsets and inversion of CD4/CD8 observed in a majority of our cases, and therefore, it could merely reflect the increase of certain T cell subsets normally expressing higher number of LFA-1 molecules. Taken together, our results do not support an abnormally increased expression of leucocytes integrins in trisomy 21 cells, and raise some doubt about the suggested role of the abnormal cellular expression of LFA-1 in the pathogensis of secondary immunodeficiency associated to Down's syndrome.

Estudio y terapéutica con cefaclor de dermatosis bacterianas severas y/o complicadas con enfermedades o tratamientos inmunosupresores en pacientes pediátricos / Clinical-study of cefaclor in severe bacterial dermatitis in pediatric patients with and without immunosupression

Se presenta en este estudio la evaluación clínica y bacteriológica del tratamiento oral con cefaclor de las dermatosis bacterianas severas en Pediatría. Se trataron infecciones graves o extendidas y asociadas a enfermedades y/o tratamientos inmunosupresores. Se incluyeron un total de 32 pacientes, 17 de los cuales presentaban inmunodeficiencias ya sea por tratamiento con corticoesteroides sistémicos (5) o por enfermedades concomitantes, como leucemia (2), enfermedad de Hodgkin (3), síndrome de Buckley (2) y varicela (5). Los 15 pacientes restantes presentaron enfermedades dermatológicas severas como síndrome estafilocóccico de la piel escaldada (SEPE) (6), celulitis (7) y piodermitis diseminada (2). La etiología bacteriana más frecuente fue Staphylococcus aureus (S.a.), que se aisló en 21 pacientes (66 por ciento), seguida por la asociación S. a. con Streptococcus Beta Hemolítico Grupo A (SBHA) en 8 pacientes (25 por ciento). El tratamiento instituido con 40 mg/kg/día de cefaclor repartidos en dos tomas durante 7-14 días (según evolución) resultó efectivo, obteniéndose mejoría clínica a las 48-96 hs. en ambos grupos de pacientes. Uno solo de los pacientes inmunosuprimidos presentó falla terapéutica y ninguno de los restantes tuvieron recaídas dentro de los 28 días (AU)

Estudio y terapéutica con cefaclor de dermatosis bacterianas severas y/o complicadas con enfermedades o tratamientos inmunosupresores en pacientes pediátricos / Clinical-study of cefaclor in severe bacterial dermatitis in pediatric patients with and without immunosupression

Se presenta en este estudio la evaluación clínica y bacteriológica del tratamiento oral con cefaclor de las dermatosis bacterianas severas en Pediatría. Se trataron infecciones graves o extendidas y asociadas a enfermedades y/o tratamientos inmunosupresores. Se incluyeron un total de 32 pacientes, 17 de los cuales presentaban inmunodeficiencias ya sea por tratamiento con corticoesteroides sistémicos (5) o por enfermedades concomitantes, como leucemia (2), enfermedad de Hodgkin (3), síndrome de Buckley (2) y varicela (5). Los 15 pacientes restantes presentaron enfermedades dermatológicas severas como síndrome estafilocóccico de la piel escaldada (SEPE) (6), celulitis (7) y piodermitis diseminada (2). La etiología bacteriana más frecuente fue Staphylococcus aureus (S.a.), que se aisló en 21 pacientes (66 por ciento), seguida por la asociación S. a. con Streptococcus Beta Hemolítico Grupo A (SBHA) en 8 pacientes (25 por ciento). El tratamiento instituido con 40 mg/kg/día de cefaclor repartidos en dos tomas durante 7-14 días (según evolución) resultó efectivo, obteniéndose mejoría clínica a las 48-96 hs. en ambos grupos de pacientes. Uno solo de los pacientes inmunosuprimidos presentó falla terapéutica y ninguno de los restantes tuvieron recaídas dentro de los 28 días

Congenital adrenal hypoplasia in a male with gonadotropin deficiency.

We report the case of a boy with adrenal insufficiency diagnosed at the age of 2.5 months. He required immediate therapy with corticosteroids. His two brothers and a cousin died in infancy with vomiting and dehydration. Aged 17.5 years (bone age 13 years), he showed no signs of puberty, a testicular volume of 2 ml, an infantile penis, and no axillary or pubic hair. There was no evidence of a pubertal growth spurt. The low plasma levels of cortisol, 17-OHP, delta-4-A, LH and FSH did not increase after stimulation with ACTH or LHRH respectively. Urinary testosterone levels before and after HCG were extremely low. These factors strongly suggest the diagnosis of a sex-linked type of adrenal insufficiency (cytomegalic form), associated with gonadotropin deficiency.