Breath methane in functional constipation: response to treatment with Ispaghula husk.

BACKGROUND: Colonic fermentation produces hydrogen (H2 ), and also produces methane (CH4 ) in subjects with methanogenic flora (M+). Methane production has been associated with chronic constipation (CC) and with changes in gut motility. To determine CH4 production in CC compared to controls, and to assess whether the therapeutic response to Ispaghula husk in CC differs between CH4 -producers and non-producers. METHODS: Forty-eight patients with functional constipation or irritable bowel syndrome-constipation and 19 healthy age-and-sex-matched volunteers (HV) filled in a 1-week symptom diary and a dietary questionnaire. They then underwent a lactulose breath test (LBT) to measure H2 and CH4 production (peak and area under the time-concentration curve, AUC-) and a colonic transit time (CTT) assessment. In patients, measurements were repeated after a 4-week treatment with Ispaghula husk. KEY RESULTS: Prevalence of M+ in patients was 60.5% vs 52.6% in HV (p = 0.37). Patients had significantly longer CTT and greater production of both H2 and CH4 during LBT. There was a significant correlation between CH4 production and CTT (r = 0.51; p = 0.07). Treatment response rate was similar for M+ and M- patients (58.3% vs 52.9%; p = 0.76) as were the increases in bowel movements and Bristol score, changes in abdominal discomfort and bloating. In M+, treatment reduced CTT (-10 ± 35 h; p = 0.029 vs baseline) and CH4 levels: peak CH4 (-13 ± 24 ppm; p = 0.014) and CH4 -AUC (-817 ± 3100 ppm/min; p = 0.04). CONCLUSIONS & INFERENCES: Although CH4 production has been associated with CC pathophysiology, we found that CH4 status did not negatively affect the response to Ispaghula husk treatment. The measurement of CH4 levels as a biomarker tool for CC requires further appraisal.

Functional analysis of two haplotypes of the human endothelial protein C receptor gene.

OBJECTIVE: To confirm the effect of the endothelial protein receptor gene (PROCR) haplotypes H1 and H3 on venous thromboembolism (VTE), to study their effect on endothelial protein C receptor (EPCR) expression in human umbilical vein endothelial cells, and to investigate the functionality of H1 tagging single-nucleotide polymorphisms in an in vitro model. APPROACH AND RESULTS: Protein C (PC), activated PC, and soluble EPCR (sEPCR) levels were measured in 702 patients with VTE and 518 healthy individuals. All subjects were genotyped for PROCR H1 and H3. Human umbilical vein endothelial cells isolated from 111 umbilical cords were used to study the relation between PROCR haplotypes, PROCR mRNA, cellular distribution of EPCR, and rate of PC activation. Finally, the functionality of the intragenic PROCR H1 single-nucleotide polymorphisms was analyzed using a luciferase-based method. We confirmed that individuals carrying H1 have reduced VTE risk, increased plasma activated PC levels, and reduced plasma sEPCR levels and that individuals with the H3H3 genotype have an increased VTE risk and increased plasma sEPCR levels. In cultured human umbilical vein endothelial cells, H1 is associated with increased membrane-bound EPCR, increased rate of PC activation, and reduced sEPCR in conditioned medium, but does not significantly influence PROCR mRNA levels. In contrast, H3 is associated with reduced membrane-bound EPCR and increased sEPCR in human umbilical vein endothelial cell-conditioned medium, higher levels of a truncated mRNA isoform, and a lower rate of PC activation. Finally, we identified the g.2132T>C single-nucleotide polymorphism in intron 1 as an intragenic H1-specific functional single-nucleotide polymorphism. CONCLUSIONS: These results support a protective role of PROCR H1 against VTE and an increased risk of VTE associated with the H3 haplotype.

The role of peritoneal dialysis in the treatment of ascites.

Cirrhosis represents a late stage of hepatic fibrosis and leads to high morbidity and mortality, and the most frequent complication is ascites. Only a few patients with advanced cirrhosis have 'refractory ascites' and do not respond to conventional treatment. Repeated paracentesis for evacuation is considered the treatment of choice in these cases. A large proportion of these patients have associated chronic kidney disease (CKD), which may require renal replacement therapy (RRT). Due to the complications associated with liver disease with coagulation disorders and tendencies towards spontaneous hypotension, there are significant problems associated to RRT, especially haemodialysis (HD). On the contrary, peritoneal dialysis (PD) offers several advantages over HD in cirrhotic patients (with or without ascites) thanks to better haemodynamic tolerance, as it is a continuous and slow technique. Furthermore, PD has a low rate of infection and bleeding.

Papel de la diálisis peritoneal en el tratamiento de la ascitis / The role of peritoneal dialysis in the treatment of ascites

La cirrosis representa un estadio avanzado de la fibrosis hepática y conlleva a una alta morbimortalidad cuya complicación más frecuente es la ascitis. Una minoría de pacientes con cirrosis avanzada tiene «ascitis refractaria» y no responden al tratamiento convencional. La paracentesis evacuadoras de repetición se consideran el tratamiento de elección en estos casos. Una gran parte de estos pacientes presentan asociada una enfermedad renal crónica (ERC), que puede precisar de tratamiento renal sustitutivo (TRS). Debido a las complicaciones asociadas a la enfermedad hepática de alteraciones de la coagulación y tendencia espontánea a la hipotensión arterial plantea problemas de cara al TRS, especialmente derivados de la hemodiálisis (HD). En este sentido la diálisis peritoneal (DP) ofrece varias ventajas respecto a la HD en pacientes con cirrosis, con o sin ascitis debido a su mejor tolerancia hemodinámica por ser un técnica continua y lenta, con baja tasa de complicaciones infecciosas y hemorrágicas (AU)

Cirrhosis represents a late stage of hepatic fibrosis and leads to high morbidity and mortality, and the most frequent complication is ascites. Only a few patients with advanced cirrhosis have 'refractory ascites' and do not respond to conventional treatment. Repeated paracentesis for evacuation is considered the treatment of choice in these cases. A large proportion of these patients have associated chronic kidney disease (CKD), which may require renal replacement therapy (RRT). Due to the complications associated with liver disease with coagulation disorders and tendencies towards spontaneous hypotension, there are significant problems associated to RRT, especially haemodialysis (HD). On the contrary, peritoneal dialysis (PD) offers several advantages over HD in cirrhotic patients (with or without ascites) thanks to better haemodynamic tolerance, as it is a continuous and slow technique. Furthermore, PD has a low rate of infection and bleeding (AU)

[Beta-cell, thyroid and celiac autoimmunity in children with type 1 diabetes]. / Autoinmunidad pancreática, tiroidea y relacionada con la celiaquía en niños con diabetes mellitus tipo 1.

OBJECTIVE: The aim of this study was to evaluate the presence of beta-cell, thyroid and coeliac autoimmunity in children with recent-onset type 1 diabetes. METHODS: We studied all children with newly diagnosed type 1 diabetes. Data were analyzed from 63 children aged 2-14 years who were treated in the Department of Pediatrics of the Virgen de las Nieves University Hospital in Granada (Spain) from 1998-2002. Antibodies to glutamic acid decarboxylase-65 (GADA), anti-insulin (AIA), thyroperoxidase (anti-TPO), thyroglobulin (anti-TG), thyroid-stimulating immunoglobulins (TSI) and endomysial antibodies (EmA-IgA) were measured and documented. A total of 55.5 % of these patients were girls and the mean age was 7.9 +/- 3.2 years. RESULTS: The prevalence rates were: GADA 65.1 %; AIA 68.3 %; anti-TPO 11.1 %; anti-TG 9.5 %; TSI 4.8 % and EmA-Ig A 3.1 %. Children with thyroid antibodies (anti-TPO1) were significantly older and developed diabetes later in life (P < 0.05) than those without antibodies. Thyroid-stimulating hormone levels, goiter and thyroid dysfunction were higher in children who were anti-TPO1 than in diabetic children without thyroid autoimmunity. CONCLUSIONS: Children with newly diagnosed type 1 diabetes show a high prevalence of thyroid and coeliac autoimmunity. In cases of positivity, additional work-up and intervention are advocated. These measures can prevent the well-known complications of diabetes and improve its clinical course.

Autoinmunidad pancreática, tiroidea y relacionada con la celiaquía en niños con diabetes mellitus tipo 1 / Beta-cell, thyroid and coeliac autoimmunity in children with type 1 diabetes

Objetivo: El objetivo de este estudio ha sido investigar en niños que presentan diabetes mellitus tipo 1 (DM1) la presencia de autoinmunidad pancreática, tiroidea y relacionada con la celiaquía. Métodos: Se incluyeron todos los niños que presentaron DM1. Se analizaron datos de 63 niños con un rango de edad de 2 a 14 años, que fueron tratados en el centro maternoinfantil del hospital universitario Virgen de las Nieves de Granada durante el período 1998-2002. Se midieron y registraron los anticuerpos antiglutamato descarboxilasa (GADA), antiinsulina (AAI), antiperoxidasa tiroidea (anti-TPO), antitiroglobulina (anti-TG), inmunoglobulinas estimulantes del tiroides (TSI) y anticuerpos antiendomisio (AAE-IgA) relacionados con la enfermedad celíaca. El 55,5 por ciento de los pacientes eran de sexo femenino, la edad media fue de 7,9 +/- 3,2 años. Resultados: El porcentaje de positividad para los distintos anticuerpos fue: GADA, 65,1 por ciento; AAI, 68,3 por ciento; anti-TPO, 11,1 por ciento; anti-TG, 9,5 por ciento; TSI, 4,8 por ciento y AAE-IgA, 3,1 por ciento. Los niños con autoinmunidad tiroidea presente eran en el momento del diagnóstico de su diabetes de mayor edad y desarrollaban su enfermedad más tarde que los niños sin autoinmunidad tiroidea. Los pacientes anti-TPO positivos presentaban niveles más elevados de hormona tirostimulante, mayor prevalencia de bocio y disfunción tiroidea que los niños sin anti-TPO. Conclusiones: Los niños que presentan DM1 presentan una alta prevalencia de autoinmunidad tiroidea y relacionada con la enfermedad celíaca. En caso de presentar estos marcadores positivos es preciso prestar especial atención a la posible asociación de otras enfermedades, completando los estudios que se precisen. Estas medidas pueden prevenir complicaciones y mejorar la evolución de la enfermedad diabética (AU)

¿Es suficiente la valoración cardiológica en la tetralogía de Fallot? / Is cardiological evaluation enough in Fallot's tetralogy?

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[Recurrent bowel intussusception and celiac disease]. / Invaginación intestinal recidivante y enfermedad celíaca.

We report a 1-year-old girl with acute abdominal pain. Clinical examination revealed distended abdomen with increased intestinal peristalsis without other pathologic signs. Ultrasound of the abdomen showed a small bowel intussusception. Seven days later, after a new episode of sudden acute abdominal pain, ultrasound revealed a new bowel intussusception. Ig A and Ig G antigliadin-antibodies were elevated and intestinal biopsy revealed total villous atrophy. After being placed on a gluten-free diet the girl was free of colicky complaints and on repeated ultrasound there was no sign of intussusception. With recurrent intussusception, celiac disease should be considered as a cause.

[The concept of myocardial infarct rehabilitation in phase III]. / Konzept der Herzinfarktrehabilitation in der Phase III.

The benefit of outpatient rehabilitation in coronary artery disease is well documented in literature. Despite this, there is evident lack of rehabilitation facilities during phase III WHO in our country. Departments of Physical Medicine and Rehabilitation seem to be well suited to run ambulant rehabilitation programmes. Therefore we developed a comprehensive rehabilitation programme including physical training, dietary counselling and teaching lessons for patients. Physical training is strictly aerobic according to the guidelines of medical training therapy. Training time will rise systematically. To keep risks low, precise in- and exclusion criteria are defined. Regular training for the staff is mandatory. Uniformity of therapeutic interventions and documentation provide quick evaluation of therapeutic success.

[Infrequent manifestations of Henoch-Schonlein purpura]. / Manifestaciones infrecuentes en la púrpura de Schönlein-Henoch.

We review the cases of 148 children with Henoch-Schönlein purpura diagnosed in a period of seventeen years (from 1975 to 1992). Thirteen cases (8.7%) of unusual clinical manifestations were found: testicular affection in six cases (7.6% of the males); IgA nephropathy in four (2.7%); exudative enteropathy in two (1.3%); duodenal syndrome in two; previous abdominal manifestation which led to surgical procedures in one (0.7%) and another case with detachment of the retina. These clinical findings are analyzed and the possibility of unnecessary therapeutic acts is discussed.

[Objective evaluation of a pediatric intensive care unit without continuous attendance (I)]. / Valoración objetiva de una UCI pediátrica de referencia sin atención continuada. (I).

Eight-hundred and nine consecutive admissions have been reexamined by means of analysis of record cards made out at the moment of discharge from the ICU, in which, among other data, the TISS and PSI maximum for the first six hours from admission are included. The results obtained are the following: 50% of the admissions were classified as medium care (PSI < 5, TISS < 20), 28% were grade IV (PSI > 12, TISS > 40), and half were of grade III with a PSI of 9.38 and a TISS of 20.29. The overall mortality was 8.9%. However, the mortality for grades III+IV was 13.4% and gave a good correlation with the PSI, but not with the TISS. The PSI/TISS ratio was 0.45 and the predicted mortality rate according to the PSI was 6.1% for grade III and greater than 12% for grade IV. We conclude the following: (1) Of the illness, 28% were grade IV. (2) We observed a deficient PSI/TISS ratio. (3) The evaluation has to be done by objective means in which the capability of carrying out different methodologies has not been taken into account.

[Parathyroid insufficiency syndrome. Two new cases: type Ia pseudohypoparathyroidism and pseudo-idiopathic hypoparathyroidism]. / Síndrome de insuficiencia paratiroidea. Dos nuevos casos: pseudohipoparatiroidismo tipo Ia e hipoparatiroidismo pseudoidiopático.

Two new cases with parathyroid insufficiency syndrome are described. The first one is a seven year and 6 months old male with Pseudohypoparathyroidism Type Ia, who has presented: hypocalcemia, hyperphoforemia, increased PTH and TSH, prolactin decreased and Albright hereditary osteodystrophy phenotype. The second one in a six year and four months old female with Pseudo-idiopathic hypoparathyroidism who has presented: hypocalcemia, hyperphosforemia, increased PTH, without any hormonal disturbances nor dysmorphias. Ellsworth-Howard test with 50 micrograms of 1-34 hPTH is made in both, remarking the different renal response about phosphaturia and plasmatic, urinary and nephrogenic cyclic AMP. The treatment is performed in both with calcitriol and oral calcium (L-Thyroxine is associated for the first patient). Biochemical disturbances are normalized. Other parathyroid insufficiency syndrome are revised.

[Congenital generalized fibromatosis. Presentation of a case and review of the literature]. / Fibromatosis congénita generalizada. Presentación de un caso y revisión de la literatura.

We report a case of congenital generalized fibromatosis in a newborn who presented with a solitary subcutaneous tumour, developing subsequently a widespread generalization (soft tissues, bone and lung). The tumours were found to be fibromatosis pathological on study. A review of the literature related to the clinic aspects and to the prognosis is made.

[Infantile nephrosis. Microcystic renal disease (author's transl)]. / Síndrome nefrótico del lactante. Enfermedad microquística del riñón

Two siblings, male and female with nephrotic syndrome of neonatal onset are reported. Both parents were healthy as well as another 5 year-old brother. Both died under two months. Their clinical, biochemical and immunological data are described, and the more common causes of N.S. (i.e. syphilis, toxoplasmosis, tuberculosis) ruled out. Pathology was available only from one of the cases, and the lesions were comparable to those described by finnish authors as corresponding to "congenital" N.S. This report is an additional evidence of the presence of this entity out of Finland.