Early identification of cardiovascular involvement in patients with β-thalassemia major.

The aim of the present study was to evaluate left ventricular myocardial deformation and carotid arterial stiffness using 2-dimensional strain and echo-tracking in patients with asymptomatic β-thalassemia major (β-TM) without significant myocardial iron overload to determine whether early subclinical cardiovascular abnormalities would be detectable. We enrolled 32 patients with β-TM (23 women, mean age 35 ± 8 years) and 33 healthy volunteers (20 women, mean age 35 ± 6 years). All subjects underwent echocardiography with 2-dimensional strain analysis (XStrain) and ultrasonography of the carotid arteries with measurement of the stiffness parameters (ProSound Alpha 10).

High endogenous melatonin levels in critically ill children: a pilot study.

Objective: To evaluate the serum melatonin levels in critically ill pediatric patients and to test the effect of light on the melatonin's circadian rhythm. Data on melatonin secretion in critically ill pediatric subjects are lacking.

Study Design: We investigated the serum melatonin levels of 16 sedated and mechanically ventilated patients in a pediatric intensive care unit.

Oxidative stress and persistent pulmonary hypertension of the newborn treated with inhaled nitric oxide and different oxygen concentrations.

Objectives: The aim of this study was to determine the effects of inhaled NO with different oxygen concentrations on the inflammatory cascade in newborns with hypoxic respiratory failure secondary to persistent pulmonary hypertension.

Methods: 60 newborns received iNO and 30 of them received an initial oxygen concentration of 45% (group 1), while the other 30 newborns received an initial oxygen concentration of 80% (group 2). The levels of inflammatory cytokines (IL-6, IL-8, TNF-α) were measured.

NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.

Joubert syndrome (JBTS) is a rare autosomal recessive disorder with an underestimated prevalence due to lack of recognition of clinical signs or failure to diagnose this pathology. JBTS is clinically heterogeneous, and it is characterized by a multiple organ involvement predominantly due to the requirement for Joubert gene function in several tissues. Renal disease affects approximately 30% of patients with JBTS, presenting itself in most cases as nephronophthisis (NPHP), a structural tubulo-interstitial disorder characterized by thickened basal membrane of the tubular epithelium and progressive interstitial fibrosis, associated with cysts at the cortico-medullary junction.

Pain in neonatal intensive care: role of melatonin as an analgesic antioxidant.

Endotracheal intubation is a common painful procedure in newborn care. Neonates are more sensitive to pain than older infants, children, and adults, and this hypersensitivity is further exacerbated in preterm neonates. The aim of this study was to evaluate the analgesic activity of melatonin during endotracheal intubation of the newborn by using the Neonatal Infant Pain Scale (NIPS) and Premature Infant Pain Profile (PIPP) score.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals conformed to the oro-facio-digital type VI phenotype, whereas skeletal dysplasia was common in fetuses affected by MKS.

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.

Mastocytosis refers to a heterogeneous group of rare disorders characterized by an abnormal accumulation of mast cells in one or more organ systems. Cutaneous mastocytosis (CM) is the most frequent form in children and is characterized by hyperpigmented macules or papules symmetrically distributed over the trunk, and less so over the limbs, neck, and scalp. Two published articles have reported on unrelated girls presenting with mastocytosis, microcephaly, hearing loss, and hypotonia.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate.

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease.

Aim: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy.

Methods: Allele and genotype frequencies of NOD2/CARD15 (R702W, G908R and L1007finsC) and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in 103 healthy controls. A genotype-phenotype correlation was performed.

Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children.

The secretory protein, uteroglobin-related protein 1 (UGRP1), is expressed mainly in the lung and trachea and recently has been implicated in asthma. The -112G to A transition in the promoter was reported to be associated with asthma in the Japanese population. However, this has not been replicated in other studies.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Loken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

In 2000, Teebi reported on a 4-year-old boy with a distinctive pattern of malformation, which he termed the "Nablus mask-like facial syndrome" (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and its unknown etiology and pathogenesis. We present two patients with Nablus mask-like facial syndrome who both display a microdeletion in the 8q21-8q22 region detected by array-based comparative genomic hybridization.

Increased protein carbonyl groups in the serum of patients affected by thalassemia major.

High oxidative stress status is known to be one of the most important factors determining cell injury in thalassemic patients and causing other serious medical complications, including a continuous proinflammatory status. The quantification of protein carbonyl groups in peripheral blood is widely used to measure the extent of oxidative modification. Thus, we measured serum concentrations of protein carbonyl groups in 30 patients affected by thalassemia major and in 15 healthy subjects.

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Objective: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown.

Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies.

Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT). We investigated the genotype distribution of these polymorphisms in Italian children with CAKUT. We also evaluated the association between the ACE insertion/deletion and the AT2R gene polymorphisms with the progression of renal damage in subgroups of CAKUT patients.

Specific immunotherapy effect on interleukin-18 and CD30 serum levels in monosensitized patients with rhinitis.

To clarify the immunologic changes associated with specific immunotherapy (SIT), we analyzed interleukin (IL)-18 and CD30 serum levels in a group of patients with allergic rhinitis before and after SIT. IL-18 is a proinflammatory cytokine that plays an important role in the Th1 response. CD30 is a marker of Th2 lymphocytes.

Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women.

The aim of our study was to measure, at delivery, maternal and cord blood cadmium levels (by means of atomic absorption spectrometry) in 45 healthy non-smoking pregnant women exposed to a low cadmium challenge, and to evaluate the relationship between these cadmium levels and the birth weight of the infants. Our results showed fairly low cadmium levels in maternal blood, in accordance with the fact that all women enrolled in this study lived in areas with low toxic metal contamination and that they did not smoke during their pregnancy. Furthermore, a highly significant direct correlation was found between maternal and cord blood cadmium concentrations.