Non-alcoholic fatty liver infiltration in children: an underdiagnosed evolving disease.

Non-alcoholic fatty liver disease (NAFLD) constitutes the most common liver disease, one that is still underdiagnosed in pediatric populations (as well as in the general population), this due to the progressive increase in childhood obesity observed both in developed and developing countries during the last few decades. The pathophysiology of the disease has not been thoroughly clarified yet. The condition displays common pathways in adults and children; however, there are age-related differences.

Hypovitaminosis D in Healthy Pregnant Women and their Newborns in Greece.

Background/objectives: The aim of this work was to evaluate the current vitamin D status in healthy pregnant women and their newborns living in Greece and assess possible associations between 25(OH)D and anthropometric features of their fetuses and newborns.

Materials & Methods: 81 healthy women were monitored during pregnancy. Biochemical markers related to bone metabolism, 25(OH)D and PTH levels were measured in serum samples of mothernewborn pairs at 1st trimester of pregnancy and at delivery in mothers, in cord blood and at the 3rd day of life of newborns.

Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.

Bartter syndrome (BS) is a group of genetic disorders characterized by hypokalemic metabolic alkalosis, hyponatremia and elevated renin and aldosterone plasma concentrations. BS type II is caused by mutations in the KCNJ1 gene and usually presents with transient hyperkalemia. We report here a novel KCNJ1 mutation in a male neonate, prematurely born after a pregnancy complicated by polyhydramnios.

Negativation of type 1 diabetes-associated autoantibodies to glutamic acid decarboxylase and insulin in children treated with oral calcitriol.

Background: Based on recent knowledge of the possible involvement of 1,25-dihydroxyvitamin D in the pathogenesis of type 1 diabetes (T1D) and the results of its administration in animal models, we conducted a clinical trial by treating high-risk children, positive for T1D autoantibodies, with oral calcitriol.

Methods: The present prospective trial was performed on 12 children (1.5-13 years old) who were investigated for the potential risk of T1D because of an already diagnosed association of celiac disease and autoimmune thyroiditis (four girls), autoimmune thyroiditis at a very young age (two girls, two boys), a diagnosis of T1D in siblings (two boys), and impaired glucose tolerance (IGT; one boy, one girl).

Characteristics of the short children referred to an academic paediatric endocrine clinic in Greece.

Aim: To describe the characteristics of short children in relation to gender and the various diagnoses.

Methods: All new patients of Greek origin that were referred to our institution in the years 2007 and 2008 for evaluation of short stature were included in the study. Children were categorized according to the severity of their short stature in those with height standard deviation score (HSDS) ≤ -3 and HSDS > -3.

Pubertal maturation of contemporary Greek boys: no evidence of a secular trend.

Purpose: To examine pubertal status of contemporary Greek boys and compare the data with those of a previous study we performed in the year 1996.

Methods: We performed a cross-sectional study of 932 healthy boys, aged from 8.05 to 16.

Constitutional advancement of growth is associated with early puberty in girls.

Background: Constitutional advancement of growth (CAG) is the growth pattern of early growth acceleration that has been shown to be characteristic in girls with idiopathic precocious puberty (IPP). The aim of this study was to examine the growth pattern of girls with early puberty compared to girls with IPP.

Methods: We studied the growth pattern, from birth to presentation, of 61 girls with early puberty, of 40 girls with IPP and of 100 healthy girls with normal pubertal onset that served as controls.

VPA-induced recurrent pancreatitis in a cystic fibrosis carrier.

A 4.5 years old male with myoclonic epilepsy on Valproic acid (VPA) monotherapy, developed an acute pancreatitis. The discontinuation of VPA and substitution with Levetiracetam was followed by clinical improvement but a relapse of the pancreatitis was noted one month later.

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Noonan syndrome (NS) is a common multiple congenital anomaly entity, the diagnosis of which, on clinical grounds, is based on a comprehensive scoring system in order to select patients for molecular confirmation. Our aim was to evaluate the phenotypic characteristics in the light of PTPN11 mutations. The study revealed 80 patients who were referred with initial indication of NS or Noonan-like syndrome (NLS) and further assessed by a clinical geneticist; 60/80 index patients, mean age 5.

Clinical review: Constitutional advancement of growth, a.k.a. early growth acceleration, predicts early puberty and childhood obesity.

Context: Constitutional advancement of growth (CAG), a.k.a.

Coinheritance of Noonan syndrome and Becker muscular dystrophy.

We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene.

Congenital bilateral amazia associated with bilateral choanal atresia.

Congenital absence of breast development is a very rare abnormality. It may present as an isolated finding or it may be accompanied by other congenital anomalies. Here we report on a 13.

Evaluation of a rapid antigen detection test in the diagnosis of streptococcal pharyngitis in children and its impact on antibiotic prescription.

Objectives: To study the performance of the Becton-Dickinson Link 2 Strep A Rapid Test, a rapid antigen detection test (RADT) for diagnosing streptococcal pharyngitis in children presenting to private offices and to the Pediatric Outpatient Clinic of a university hospital, in relation to clinical criteria (fever, tender anterior cervical lymph nodes, tonsillar exudate and absence of cough), and its impact on antibiotic prescription.

Methods: Children were enrolled in Group A (enrolment by private-practice paediatricians; diagnosis by clinical picture only), Group B (enrolment by private-practice paediatricians; diagnosis by RADT and culture) or Group C (enrolment by hospital-affiliated paediatricians in the Pediatric Outpatient Clinic; diagnosis by RADT and culture).

Results: During a 2 year period, 820 children were enrolled [369 (45%) in Group A, 270 (33%) in Group B and 181 (22%) in Group C].

High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.

Objectives: Herein we report the results of mutation-based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek island of Kalymnos.

Patients And Methods: Mutation analysis was performed in 110 and 9 WD families originating respectively from Sardinia and Kalymons using single-strand conformation polymorphism and sequencing methods. In Sardinia, a limited screening was performed for -441/-427del in 5290 newborns, whereas in Kalymnos 397 newborns underwent mutation screening for H1069Q and R969Q using appropriate methods.

Timing of pubertal onset in girls: evidence for non-Gaussian distribution.

Context: The timing of the onset of puberty is considered to approximate a normal distribution. However, because many more girls present with early than late puberty, we hypothesized that the distribution of the timing of the onset of puberty in girls might have changed. OBJECTIVE/SUBJECTS: The objective of the study was to examine the distribution of the timing of the onset of puberty in normal Greek girls.

Greek young men grow taller.

Aim: To examine whether a secular trend for greater height is still observed in young Greek men.

Method: Height and weight of 3982 Greek conscripts, aged 18-26 years, were measured and correlated with the level of education and place of residence. Our data were collected from May 2006 to May 2007 from pre-selected army camps all over Greece.

Age at menarche in contemporary Greek girls: evidence for levelling-off of the secular trend.

Aim: To examine the secular trend of menarcheal age in Greek girls during the last decade.

Methods: Seven hundred and fifty senior high schoolgirls were asked through a questionnaire to report their date of menarche, participation in physical activities and their weight status at menarche. The data were compared with those of a study of 1996.

A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.

Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine and especially triiodothyronine into target cells. It is expressed in brain neurons and in many other tissues. The monocarboxylate transporter 8 gene resides on chromosome Xq13.

Low TSH levels are not associated with osteoporosis in childhood.

Introduction: A recent study on TSH receptor (TSHR) null mice suggested that skeletal loss occurring in hyperthyroidism is caused by the low TSH rather than high thyroid hormone levels. The aim of this study was to examine whether low TSH results in osteoporosis in the human.

Subjects And Methods: We determined bone mineral density (BMD) and markers of bone metabolism in two male siblings aged 9.

Does exclusive breastfeeding increase after hospital discharge? A Greek study.

To monitor the rate of exclusive breastfeeding in Greek maternity wards and to investigate possible changes in infant-feeding practices during the first month after hospital discharge, the authors questioned 4310 Greek mothers from 7 hospitals on the fourth day postpartum. Odds ratios were calculated to estimate the effects of health system, demographic, psychosocial, and environmental factors. Any breastfeeding and full breastfeeding initiation rates were 85% and 23%, respectively.

Working mothers breastfeed babies more than housewives.

Aim: To examine the prevalence and determinants of breastfeeding and to identify perinatal, sociodemographic, psychosocial and environmental factors associated with maternal infant feeding intention.

Methods: A sample of 3734 Greek mothers that delivered their infants in 2000 was recruited in a longitudinal cohort study. Data on duration of breastfeeding was based on a questionnaire answered by 76.

The secular trend of body weight of Greek schoolchildren in the 20th century.

Background: Improvements in socioeconomic conditions in the 20th century had a dramatic impact on the growth and development of children, resulting in greater somatic growth and earlier pubertal maturation. Furthermore, in the last part of that century childhood obesity took on epidemic proportions in many countries The aim of the study was to present the secular trend of body weight of Greek schoolchildren in the 20th century.

Material/methods: The data were taken from growth studies the authors conducted themselves or were able to find in the Greek literature.

Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers.

Background/aims: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, secondary hyperparathyroidism, elevated levels of 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)], and occasionally, alopecia. In most cases, the disease is associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)(2)D(3) action. The apparently healthy HVDRR heterozygotes express both normal and mutant VDR alleles, and they present higher levels of 1,25(OH)(2)D(3) than their respective controls.