Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina.

Symptomatic bone langerhans cell histiocytosis treated at diagnosis or after reactivation with indomethacin alone.

This study evaluated the outcome of patients with symptomatic bone Langerhans cell histiocytosis (LCH) treated with indomethacin alone, either at diagnosis or after reactivation (after recurrence with previous therapies). We evaluated the nonrandomized use of oral indomethacin (2 mg/kg/d) in patients with symptomatic single-system bone LCH. From 1997 to 2012, 38 sequential patients were treated for a median of 4 months.

Role of CXCR3/CXCL10 axis in immune cell recruitment into the small intestine in celiac disease.

Lymphocytic infiltration in the lamina propria (LP), which is primarily composed of CD4(+) Th1 cells and plasma cells, and increased numbers of intraepithelial lymphocytes (IELs), is a characteristic finding in active celiac disease (CD). Signals for this selective cell recruitment have not been fully established. CXCR3 and its ligands, particularly CXCL10, have been suggested to be one of the most relevant pathways in the attraction of cells into inflamed tissues.

Prenatal lead exposure and relationship with maternal exposure determinants in a public maternity hospital of La Plata, Argentina.

Prenatal lead exposure is a health hazard that may cause cognitive development impairments and other adverse effects in children. We conducted a cross sectional study analyzing cord blood lead levels (CBLL) of newborns and their relationship with maternal determinants of lead exposure. Mothers answered a questionnaire about socio-demographic, lifestyle habits and environmental characteristics.

[Prevalence of anemia in infants under the age of 6 months being treated at a primary care setting in the city of La Plata, Argentina].

Introduction. Anemia is a public healthcare problem that particularly affects children under the age of 2 years, with consequences that greatly affect psychomotor and intellectual growth during childhood and productive capacities in adulthood. Objective.

[Home parenteral nutrition (HPN): feasibility of its implementation from a public hospital].

Introduction: The intensive care of patients at home had probed important beneficialness for the patient and the Health System. There are very few experiences of this kind of care from the Public Hospitals.

Objective: To develop a social-sanitary analysis of the feasibility of the implementation of HPN on patients with short bowel syndrome (SBS) from a Public Hospital.

[Outcome and survival of pediatric Short Bowel Syndrome (SBS)].

Introduction: SBS is the main cause of intestinal failure (IF) in children and has a high morbility and mortality.

Objectives: to analyze factors associated with the outcome and survival of SBS children.

Methods: analytical, descriptive and retrospective study.

[Citrobacter koseri brain abscess in an infant: case report and literature review].

We present a 2 month-old female infant admitted to the hospital with macrocephaly as main clinical sign, irritability, and vomiting. The computer tomography scanning showed a cystic frontal image with contralateral ventricle displacement. Surgical intervention was performed.

[Comparing the clinical-functional state in children with cystic fibrosis detected by neonatal screening or by clinical symptoms].

Introduction: Newborn Screening for Cystic Fibrosis (CF) has demonstrated better clinical and functional results in patients diagnosed and treated prematurely.

Objective: To compare clinical and functional state in children with CF detected by newborn screening or by symptoms.

Patients And Methods: Cross-sectional study.

Adult height in Turner Syndrome girls after long-term growth hormone treatment.

We studied the adult height (AH) outcome, and factors likely to influence it, in Turner Syndrome (TS) girls treated with growth hormone (GH). A total of 25 TS girls treated with GH were compared with 10 TS girls not treated with GH. The percentage of girls who achieved normal third percentile was determined.

Acquisition of visuomotor abilities and intellectual quotient in children aged 4-10 years: relationship with micronutrient nutritional status.

Lethargy, poor attention, and the high rate and severity of infections in malnourished children affect their educational achievement. We therefore studied the association between visuomotor abilities and intelligence quotient (IQ) and their relationship with iron, zinc, and copper. A cross-sectional study was carried out on a sample of 89 healthy children (age range, 4-10 years).

[Growth assessment of children with neonatal short bowel syndrome (SBS)].

Introduction: SBS is a complex entity with high morbimortality. Survival following extent intestinal resection during the neonatal period is higher than 90%. Nutritional support is paramount during the periods of high growth.

Severity of meningococcal infections is related to anthropometrical parameters.

Background: Invasive meningococcal infections remain an important cause of death in children. In addition, malnutrition has been classically associated with increased severity of infectious diseases. However, in our experience lethal meningococcaemia in clinically malnourished children is extremely rare.

Changes in body composition in lactating adolescent mothers.

We assessed changes in body composition in lactating adolescent mothers living under unfavorable socioeconomic and sanitary conditions. A total of 17 healthy primiparous adolescents under 17 years of age attending the Maternity Hospital of the city of La Plata, Argentina, were followed at 4 time points (15 days and 3, 6 and 12 months postpartum) to assess, a) dietary intake, b) practice of physical activity, c) nutritional condition (weight, height, body mass index [BMI] according to age, and body composition by the sum of skinfold measurements), d) characteristics of lactation, and e) growth parameters of the child. The mean age of adolescents was 15.

Nutrition and immunological status in long-term follow up of children with short bowel syndrome.

Background: Little is known about the long-term evolution, nutrition status, growth, and eventual deficiencies of patients with short bowel syndrome (SBS) adapted to oral feeding after parenteral nutrition (PN). Because there are not absolute criteria for weaning from parenteral or enteral nutrition to oral feeding, new nutrient deficiencies may develop. Subtle nutrition deficits could induce subclinical immune deficiencies; therefore, we studied long-term growth, nutrition status, and the state of the immune system in 10 patients with SBS after weaning PN for at least 2 years.

[Lung cystic adenomatoid malformation: our experience].

Background: Cystic Adenomatoid Malformation (CAM) is a rare entity in pediatrics. To know about it will lead us to its analysis, diagnosis and adequate surgical treatment.

Aim: To show our experience for the diagnosis and treatment of lung (CAM).

[Toxocariasis with liver involvement].

We are reporting 16 cases of toxocariasis found in a two year period. Mean age was 2 years and 9 months. Sex distribution was 1:1.

Massive myocardial calcification in the perinatal period.

Massive myocardial calcification (MMC) in the perinatal period is an unusual finding considered to be a unique tissue reaction. This report summarizes the clinical and pathologic findings of seven cases of perinatal MMC. All patients presented clinical evidence of myocardial damage.

[Human papillomavirus, neonatal giant cell hepatitis and biliary duct atresia].

We previously recognized the presence of HPV-DNA in cases of idiopathic neonatal giant cell hepatitis (INGCH) and extrahepatic biliary duct atresia (EBDA) in archivated tissue using the PCR technique. In order to investigate a possible vertical transmission we looked for the presence of HPV-DNA in cervical swabs in the mothers along with formalin-fixed paraffin-embedded hepatic tissue from 3 infants with INGCH and 4 patients with EBDA by nested-PCR. Cervical smears showed koilocytosis consistent with HPV infection in 2 cases.

Steroids in the hemolytic uremic syndrome.

To determine whether steroids could be of clinical benefit in the treatment of the hemolytic uremic syndrome (HUS), we conducted a randomized, double-blinded, placebo-controlled trial of methylprednisone (5 mg/kg per day in four oral doses over 7 days), in children with HUS during the acute phase. Ninety-two patients with typical HUS (47 receiving placebo and 45 receiving steroids) were investigated for neurological, hematological, and nephrological variables. There were no differences between groups in the number of convulsive episodes or transfusion requirements during the hospital stay.

Childhood hemolytic uremic syndrome in Argentina: long-term follow-up and prognostic features.

From January 1968 to December 1984, 312 infants and children with hemolytic uremic syndrome were admitted to our unit; 8 patients died (2.5%) during the acute phase; 118 children were followed as outpatients at yearly intervals for at least 10 years (mean follow-up 13 years, range 10-19.8 years).

[Maternal competence and infant malnutrition: an instrument for its evaluation].

At the Unit of Nutritional Rehabilitation of La Plata Children's Hospital "Sor María Ludovica" an inventory was designed to observe in outpatient clinics certain behaviors allowing an early detection of disorders in mother-child link. We evaluate a sample of 50 mothers with their children between 1 and 24 months presenting moderate or severe undernutrition of primary cause, as well as 50 mothers with their children of the same age, sex, social and economical level of the experimental group who never presented undernutrition. This inventory, which has the following parts, was applied: 1) verbal maternal behaviour, 2) affective maternal behavior, 3) child's hygiene, 4) stimulation of development, 5) participation of other persons in child's care, 6) consistency between mother's discourse and attitudes.

Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH.

We have studied a family in which four members of the same generation were affected with Wiedemann-Beckwith syndrome (WBS). Trisomy 11p15 was demonstrated using molecular probes in interphase nuclei of formalin-fixed paraffin-embedded placenta from a stillborn fetus and in peripheral blood lymphocytes from two liveborn female relatives. Clinical examination showed nonimmune hydrops and placentomegaly in two siblings and multiple phenotypic abnormalities consistent with WBS in the two other relatives.

Cytomegalovirus-associated Ménétrier's disease in adults. Demonstration by polymerase chain reaction (PCR).

Ménétrier's disease (MD) is a rare form of hypertrophic or hyperplastic gastropathy characterized by conspicuous thickening of the gastric mucosal folds and foveolar (crypt) hyperplasia. We examined the presence of cytomegalovirus (CMV) in 2 cases of MD in adults, one associated with gastric carcinoma, using the polymerase chain reaction (PCR). None of the cases showed intranuclear inclusions consistent with CMV infection.