Subject(s)
Ataxia Telangiectasia/diagnosis , Ataxia Telangiectasia/genetics , Comet Assay , DNA Damage , Adult , Ataxia Telangiectasia/pathology , Ataxia Telangiectasia Mutated Proteins , Cell Cycle Proteins/biosynthesis , Cell Cycle Proteins/genetics , Child , DNA-Binding Proteins/biosynthesis , DNA-Binding Proteins/genetics , Genetic Predisposition to Disease , Humans , Protein Serine-Threonine Kinases/biosynthesis , Protein Serine-Threonine Kinases/genetics , Tumor Suppressor Proteins/biosynthesis , Tumor Suppressor Proteins/geneticsABSTRACT
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.
Subject(s)
Autoimmunity/immunology , Celiac Disease/immunology , Diabetes Mellitus, Type 1/immunology , Islets of Langerhans/immunology , Thyroid Diseases/immunology , Thyroid Gland/immunology , Adolescent , Autoantibodies/blood , Autoantibodies/immunology , Celiac Disease/blood , Celiac Disease/complications , Child , Child, Preschool , Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/complications , Female , Humans , Male , Thyroid Diseases/blood , Thyroid Diseases/complicationsABSTRACT
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)
Subject(s)
Male , Humans , Female , Child , Child, Preschool , Adolescent , Thyroid Gland , Thyroid Diseases , Celiac Disease , Autoimmunity , Autoantibodies , Islets of Langerhans , Diabetes Mellitus, Type 1ABSTRACT
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.
Subject(s)
Celiac Disease/complications , Intussusception/complications , Female , Humans , Infant , RecurrenceABSTRACT
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.
Subject(s)
IgA Vasculitis/diagnosis , Child , Child, Preschool , Duodenal Diseases/complications , Female , Glomerulonephritis, IGA/complications , Glomerulonephritis, IGA/immunology , Humans , IgA Vasculitis/complications , Male , Medical Records , Protein-Losing Enteropathies/complications , Retinal Detachment/complications , Retrospective Studies , Testicular Diseases/complicationsABSTRACT
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.
Subject(s)
Intensive Care Units, Pediatric/standards , Severity of Illness Index , Child , Humans , Intensive Care Units, Pediatric/statistics & numerical data , Length of Stay , Mortality , Patient Admission , Patient Discharge , SpainABSTRACT
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.
Subject(s)
Hypoparathyroidism/metabolism , Pseudohypoparathyroidism/metabolism , Calcitriol/therapeutic use , Calcium/therapeutic use , Child , Cyclic AMP/blood , Cyclic AMP/urine , Female , Humans , Hypocalcemia/diagnosis , Hypoparathyroidism/drug therapy , Hypoparathyroidism/etiology , Male , Parathyroid Hormone/blood , Pseudohypoparathyroidism/drug therapy , Thyroxine/therapeutic useABSTRACT
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.
Subject(s)
Fibroma/congenital , Bone Neoplasms/congenital , Female , Fibroma/pathology , Humans , Infant, Newborn , Lung Neoplasms/congenital , Soft Tissue Neoplasms/congenitalABSTRACT
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.
