Are current cut-off values of 11-DOC in children useful for assessing suspected nonclassical congenital adrenal hyperplasia due to 11β-hydroxylase deficiency?

Objective: A nonclassic form of 11β-hydroxylase deficiency (NC11β-OHD) has been reported to cause mild androgen excess symptoms. Currently, the gold standard for biochemical diagnosis is elevated 11-deoxycortisol (11-DOC) levels after corticotropin stimulation test (ACTHstimT). However, there are no clear 11-DOC level cutoffs.

Bone Age Assessments by Quantitative Ultrasound (SonicBone) and Hand X-ray Based Methods are Comparable.

Background: Bone maturation is currently assessed by subjective and automated radiography.

Objectives: To evaluate the concordance and reproducibility of a quantitative ultrasound (QUS) based device versus X-ray based methods.

Methods: The study population comprised 150 children, 76 males, 4-17 years of age.

Vitamin D status in Israeli pediatric type 1 diabetes patients: the AWeSoMe Study Group experience and literature review.

Background The prevalence of both vitamin D (VitD) deficiency and type 1 diabetes mellitus (T1DM) has increased worldwide over the last few decades. The objectives of this study were: (1) to evaluate the prevalence of VitD deficiency and insufficiency among Israeli youth with T1DM and (2) to assess the association between VitD status, seasonality and T1D glycemic control characteristics. Methods This was a multi-centered, cross-sectional study.

Hyperglycemia is associated with simultaneous alterations in electrical brain activity in youths with type 1 diabetes mellitus.

Objective: To assess the association between hyperglycemia and electrical brain activity in type 1 diabetes mellitus (T1DM).

Methods: Nine youths with T1DM were monitored simultaneously and continuously by EEG and continuous glucose monitor system, for 40 h. EEG powers of 0.

Alpha-1 antitrypsin therapy is safe and well tolerated in children and adolescents with recent onset type 1 diabetes mellitus.

Background And Objectives: Alpha-1 antitrypsin (AAT) has been shown to reduce pro-inflammatory markers and protect pancreatic islets from autoimmune responses in recent studies. Our aim was to evaluate its safety and tolerability in three different doses, in a pediatric population with recent onset type 1 diabetes mellitus (T1DM).

Methods: A 37-wk prospective, open-label, phase I/II interventional trial, comprised of 24 recently diagnosed subjects (12 males; age 12.

The contribution of art therapy in poorly controlled youth with type 1 diabetes mellitus.

Objective: To evaluate the effect of intensive art therapy in youth with poorly controlled type 1 diabetes mellitus (T1DM).

Methods: A retrospective report of the characteristics and outcomes of all patients who were offered to receive individual art therapy sessions because of behavioral difficulties.

Results: The study population included 29 participants.

Treatment with recombinant human growth hormone during childhood is associated with increased intraocular pressure.

Objective: To evaluate the association between recombinant human growth hormone (rhGH) treatment and intraocular pressure (IOP) in children.

Study Design: This is an observational cohort study including comparison between children treated with rhGH for at least 12 months (treatment group), matched children prior to treatment (control group), and population age-adjusted normograms of IOP. All children underwent an ocular slit lamp assessment and Goldmann applanation tonometry.

Evaluation of bone density in girls with precocious and early puberty during treatment with GnRH agonist.

Background: Major changes in bone status occur during puberty. Most longitudinal studies have shown no impairment in bone mineral density (BMD) in girls with precocious (PP) and early puberty (EP) during and after GnRH agonist therapy.

Methods: In the present study we evaluated BMD, bone strength (BS) and bone metabolism in 26 girls with PP and with EP before and during treatment with GnRH agonist.

Measles-vaccinated Israeli boy with subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis is a rare neurologic disorder of childhood and adolescence. We describe a 16-year-old boy who manifested the disease despite proper vaccinations. He was hospitalized because of bedwetting, involuntary limb movements, abnormal speech, and balance disturbances.

Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.

Background And Objective: Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics of the extended family of a 16-year-old female who presented with new-onset DM and had delayed puberty on physical examination.

Methods: The primary physician's medical charts of 9 members of the proband's consanguineous Israeli-Arab family were reviewed.

Post-streptococcal glomerulonephritis and uveitis--a case report.

We hereby present the first case report of a child with concomitant post-streptococcal glomerulonephritis (PSGN) and uveitis. Pediatricians should be familiar with this entity and recognize signs and symptoms of uveitis in children with PSGN.

Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy.

Introduction: Neonatal hyperthyrotropinaemia (HT), defined by elevated TSH and normal T(4), is either transient or persistent. The eventual outcome of neonatal HT is unpredictable and the management of HT patients is controversial. We assessed perinatal parameters and diagnostic measures that may distinguish between transient and persistent HT, compared with congenital hypothyroidism (CH).

Evidence-based review of bone strength in children and youth with cerebral palsy.

Children with cerebral palsy have various risk factors for compromised bone health. Evidence concerning their bone fragility is gathering; however, there is no consensus regarding risk factors, indications for evaluation, follow-up, or treatment. We performed an evidence-based review targeted to address the following questions concerning children with cerebral palsy: Is bone strength impaired and what are the risk factors? Are these children at increased risk for bone fractures? What are the relations between bone mineral density and fracture risk? What methods can be used for bone health assessment? How can bone strength be improved? Currently, the most acceptable method for evaluating bone status in children is dual-energy x-ray absorptiometry.

Transient renal tubulopathy: a case report.

A five-year-old boy was evaluated for fever, abdominal pain, vomiting, and diarrhea lasting two days. Chest radiograph revealed a left bronchopneumonia. Metabolic work-up demonstrated phosphaturia, glucosuria, calciuria, proteinuria, profound hypophosphatemia, hypouricemia, borderline hypomagnesemia, and normoglycemia.

Clinical significance of the parental origin of the X chromosome in turner syndrome.

Context: The phenotype in Turner syndrome (TS) is variable, even in patients with a supposedly nonmosaic karyotype. Previous work suggested that there were X-linked parent-of-origin effects on the phenotype.

Hypothesis: The TS phenotype is influenced by the parental origin of the missed X chromosome.

TH1/TH2 cytokine balance in patients with both type 1 diabetes mellitus and asthma.

Background And Objective: T1DM and asthma are mediated by opposite arms of the cellular immune system namely T helper (Th)1 and Th2 CD4(+) cells, respectively. Our aim was to characterize the Th1/Th2 cytokine balance in patients with both T1DM and asthma.

Methods: Forty-four patients, mean age 19 years were matched by gender and age, to 4 paired groups: T1DM and asthma, asthma only, T1DM only and healthy controls.

Differences in infantile growth patterns in Turner syndrome girls with and without spontaneous puberty.

Objective: The role of prepubertal estrogen in child growth was modeled using Turner's syndrome, comparing growth patterns of girls who later did or did not enter puberty spontaneously. The hypothesis was that TS patients with normal prepubertal estrogen levels would have a different growth pattern from those with subnormal estrogen levels.

Study Design: Growth data from 78 full-term patients with Turner's syndrome were collected retrospectively.

TH1/TH2 cytokine secretion of first degree relatives of T1DM patients.

Th1/Th2 cytokine imbalance has been demonstrated in Type 1 diabetes (T1DM) patients. We characterized the peak levels, secretory pattern and total cytokine production of the Th1 cytokines (IL-2 and IFN gamma) and Th2 cytokines (IL-4 and IL-10), by stimulated peripheral blood mononuclear cells of twenty six first-degree relatives of T1DM patients, and eleven matched controls. At enrollment, first degree relatives demonstrated a significant increase in peak and overall secretion of IL-2; P<0.

Type 1 diabetes in Jewish Ethiopian immigrants in Israel: HLA class II immunogenetics and contribution of new environment.

The interrelationship between human leukocyte antigen immunogenetics and environmental factors and their contribution to the emergence of type 1 diabetes (T1D) were studied in Jewish immigrants from Ethiopia in Israel. This community displays high incidence of T1D, and is unique both by its ethnic segregation and its rapid exposure to a new environment after the immigration. The study population consisted of 152 Ethiopian Jews living in Israel, 33 with T1D and 119 unrelated controls.

Asynchronous replication of biallelically expressed loci: a new phenomenon in Turner syndrome.

Purpose: Transcriptional activity of genes is related to their replication timing; alleles showing the common biallelic mode of expression replicate synchronously, whereas those with a monoallelic mode of expression replicate asynchronously. Here the level of synchronization in replication timing of alleles was determined in subjects with Turner syndrome.

Methods: Fluorescence in situ hybridization was used for three loci not linked to X chromosome, in lymphocytes derived from 12 controls, 3 individuals with Turner, and 4 with mosaic Turner syndrome.

Constitutive up-regulated activity of MAP kinase is associated with down-regulated early p21Ras pathway in lymphocytes of SLE patients.

Aberrant expression of the p21Ras proto-oncogene has been reported in lymphoid cells of SLE patients. We previously showed that the expression of the p21Ras stimulatory element, hSOS1, is reduced in PBMC from SLE patients with non-active disease. However, the significance of this finding regarding the regulation and function of the p21Ras pathway and its correlation to disease activity remained unclear.

Lack of correlation between disease activity and decreased stimulated secretion of IL-10 in lymphocytes from patients with celiac disease.

Background: Celiac disease (CD) is commonly believed to be a predominantly Th1 disease. However, the exact balance between the Th1 and Th2 arms, as well as the correlation to clinical parameters, remains unclear. The aim was to assess the Th1/Th2 cytokine profile and its correlation to clinical parameters in active and non-active CD patients.