Metabolomics reveals new metabolic perturbations in children with type 1 diabetes.

Objective: Using an untargeted metabolomics approach we investigated the metabolome of children with type 1 diabetes (T1D) in comparison with healthy peers and explored the contribution of HbA1c and clinical features to the observed difference.

Research Design And Methods: We enrolled children with T1D aged 6-15 years, attending the pediatric diabetes clinic of University of Padova (Italy). Healthy controls were enrolled on voluntary basis and matched for age, sex, pubertal status, body mass index (BMI).

Severe hypoglycemia and ketoacidosis over one year in Italian pediatric population with type 1 diabetes mellitus: a multicenter retrospective observational study.

Background And Aims: Evaluation of incidence and correlates of severe hypoglycemia (SH) and diabetes ketoacidosis (DKA) in children and adolescents with T1DM.

Methods And Results: Retrospective study conducted in 29 diabetes centers from November 2011 to April 2012. The incidence of SH and DKA episodes and their correlates were assessed through a questionnaire administered to parents of patients aged 0-18 years.

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age. INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR).

Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?

Shwachman-Diamond syndrome is a rare clinical condition consisting of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. The majority of Shwachman-Diamond syndrome cases result from mutations in the Shwachman-Bodian-Diamond Syndrome gene. To date, type 1 diabetes mellitus has only been reported in 4 independent cases presenting with Shwachman-Diamond syndrome, 3 of them with molecular confirmation of the diagnosis.

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

Aims/hypothesis: The aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age.

Methods: We studied 46 probands with permanent, insulin-requiring diabetes with onset within the first 6 months of life (permanent neonatal diabetes mellitus [PNDM]/monogenic diabetes of infancy [MDI]) (group 1) and eight participants with diabetes diagnosed between 7 and 12 months of age (group 2). KCNJ11, INS and ABCC8 genes were sequentially sequenced in all patients.

Unilateral laryngeal paralysis in a newborn with congenital varicella syndrome.

We report a case of a newborn with unilateral laryngeal paralysis due to congenital varicella syndrome. The patient needed neonatal resuscitation with positive pressure ventilation for severe respiratory failure. Fiberoptic bronchoscopy showed left unilateral laryngeal paralysis.

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this disorder, in almost half the cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse bearing a mutation in the Ins2 gene exhibits PNDM associated with pancreatic beta cell apoptosis, we sequenced the human insulin gene in PNDM subjects with unidentified mutations.

Procoagulant activity in children with community acquired pneumonia, pleural effusion and empyema.

Unlabelled: In patients with community-acquired pneumonia (CAP), bacterial-cell-wall-derived fragments may induce the coagulation cascade. To contribute to the knowledge of underlying mechanisms, we have studied the fibrinolytic activity in children with CAP and parapneumonic effusions.

Patients And Methods: Twenty previously healthy children admitted to our Department with CAP were studied; with (n = 11) or without (n = 9) pleural effusion (PPE).

Investigation of children with chronic nonspecific cough: any clinical benefit of bronchoscopy and bronchoalveolar lavage?

Chronic cough can be a complicated and frustrating diagnostic dilemma. The aim of this study was to identify the possible causes of chronic nonspecific cough in seemingly healthy children using fiberoptic bronchoscopy (FOB) and bronchoalveolar lavage (BAL). Eighteen children responded to criteria of selection for chronic cough.

Case for diagnosis: 4-month-old infant with increasing cough, hemoptysis, and anemia.

A 4-month-old caucasian infant presented non-productive cough, fever associated with hemoptysis, and increasing anemia. He had mild tachypnoea; routine lab tests were normal. The thoracic HRCT scan showed a very large mass in the right lung adherent to the thorax wall, well defined and limiting the medium and upper lobe; the mass was well vascularized, and with central hypodensic areas.

Asthma prevalence and drug prescription in asthmatic children.

A cross-sectional study was conducted on among 28,856 children aged from birth to 14 years to determine the prevalence of asthma and assess its treatment in a sample of asthmatic children. Children diagnosed with asthma were identified by a sensitive algorithm applied to the information stored in the computerized medical records between 1997 and 1998. Pediatricians then reviewed and validated the diagnosis.

Use of urokinase in childhood pleural empyema.

Urokinase is an enzyme with a fibrinolytic effect that facilitates pleural empyema drainage through a chest tube. The aim of this study was to assess the risk of pneumothorax, the need for pleural debridement surgery, the persistence of fever, and the number of days in hospital in a group of children with parapneumonic pleural empyema treated with urokinase. This was an uncontrolled retrospective study on children suffering from parapneumonic empyema.

Plasma glycohydrolase levels in patients with type 1 diabetes at onset and in subjects undergoing an intravenous glucose tolerance test.

The effect of hyperglycemia and insulin deficiency on the plasma level of lysosomal glycohydrolases, namely N-acetyl-beta-D-glucosaminidase, beta-D-glucuronidase, alpha-D-galactosidase, and alpha-D-glucosidase, was investigated. Two patient groups were assessed: (1) 28 children with type 1 diabetes at onset (fasting blood glucose, 444+/-154 mg/100 mL; hemoglobin A1c, 11.9%+/-2.

Neurofibromatosis type 1 growth charts.

Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients collected through a population-based registry that covers three contiguous regions of North-East Italy (NEI-NF Registry). Auxometric traits of 528 NF1 patients have been measured with the aim of drawing growth charts for height, weight, and head circumference (OFC).

Elevated sodium-lithium countertransport activity in erythrocytes is predictive of the development of microalbuminuria in IDDM.

Pathogenetic mechanisms other than the quality of metabolic control may play a role in the development of diabetic nephropathy. Some cross-sectional studies have shown that elevated erythrocyte sodium-lithium countertransport (Na+/Li+ CT) activity may be linked to incipient or overt nephropathy in insulin-dependent diabetic (IDDM) patients. The aim of the present work was to ascertain if high erythrocyte Na+/Li+ CT activity anticipates the development of microalbuminuria in IDDM patients.

Gas exchange during exercise in diabetic children.

The purpose of this study was to evaluate the cardiorespiratory and metabolic response to exercise in 33 children, aged 9 to 15 years, affected by type I diabetes mellitus, in comparison with 47 age-, sex-, weight-, and height-matched healthy children. All diabetic children were on a mixed split-dose insulin regimen, consisting of both regular and long-acting insulin in the morning and evening. The last insulin injection was administered on average 6 hours before the test.

[Usefulness of fructosamine determination in short-term monitoring of metabolic control in children with insulin-dependent diabetes mellitus at onset].

The present study was undertaken to determine the clinical usefulness of fructosamine estimations in monitoring the short term changing in metabolic control in 5 newly diagnosed type 1 diabetic children (3 boys, 2 girls, aged 3-13 years). Mean glycaemic values, HbAlc (normal range: 4.77 +/- 0.

Clinical and subclinical organ-specific autoimmune manifestations in type 1 (insulin-dependent) diabetic patients and their first-degree relatives.

Studying 239 Type 1 (insulin-dependent) diabetic patients and 144 of their first-degree relatives, we found a significant prevalence of autoimmune manifestations in both groups, compared with sex- and age-matched control subjects (p less than 0.001). In particular, in diabetic patients we found a high frequency of autoimmune thyroid disease and idiopathic Addison's disease and also a significant prevalence of thyroid (p less than 0.

[Prolonged remission of infectious symptoms during treatment with ascorbate in a case of Chediak-Higashi syndrome].

A case of Chédiak-Higashi syndrome in a 12-years old girl is presented. The Authors refer recent advances in the pathogenetic mechanism and in the treatment of this syndrome. Furthermore, they report a prolonged remission of infections during ascorbic acid therapy.

[Value and limits of C.T. scan in neurologics diseases in infancy and childhood (author's transl)].

The results obtained in 151 children who underwent C.T. scan at the Pediatric Department of the University of Padova are reported.

[Gastric trichobezoar: a case report (author's transl)].

We describe the case of an 11 years old girl admitted to investigate an abdominal mass. The patient presented with abdominal pain, halitosis, exhaustion, started about 1 year prior to admission. An upper gastrointestinal tract with barium and a gastric endoscopy showed a massive trichobezoar which was then surgically removed.

[Intravenous aminophylline and dexamethasone in the acute emergency for asthmatic children (author's transl)].

The experience of therapy with Dexamethasone I.V. and Aminophylline I.