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. VitD levels were routinely tested during the years 2008-2011 in T1DM patients aged up to 21 years. Medical records were reviewed for demographic, clinical and laboratory characteristics. Results The study population consisted of 199 participants (53% males), mean age 12.24±4.11 years, mean T1DM duration 3.77±3.43 years. VitD levels were within the normal range in 19.6%, insufficient (15-29 ng/mL, 37-72 nmol/L) in 62.3% and deficient (<15 ng/mL, <37 nmol/L) in 18.1%. Mean VitD level was higher during the summer than during spring, autumn and winter (28.65 ng/mL, 23.16 ng/mL, 21.65 ng/mL, 17.55 ng/mL, respectively, p<0.001). Mean VitD level was higher among secular patients compared to the religious (whole-year heavily dressed) population (23.57 ng/mL, 15.54 ng/mL, respectively, p<0.001). VitD level was negatively associated with body mass index calculation of standard deviation scores (BMI-SDS), high-density lipoprotein (HDL) and age at diagnosis (r=-0.171, p=0.016; r=-0.149, p=0.043; r=-0.150, p=0.037, respectively). No association was demonstrated with disease duration and glycemic control indices and metabolic parameters. Conclusions VitD insufficiency is largely prevalent among Israeli youth with T1DM, as is in Israeli youth in general. The VitD level is associated with seasonality, clothing habits and BMI.

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. The main behavioral difficulties were needle phobia and lack of compliance with nutritional recommendations or with insulin administration. The intervention group included 16 patients, with a mean age of 9.3±2.5 years, average intervention length of 0.77±0.41 years, and long-term data of 2.27±1.13 years. The control group included 13 patients, with a mean age of 9.3±3.4 years. Improvement was observed in 56% of the case group and in 23% of the control group. Art therapy was associated with a decrease in hemoglobin A1c in the intervention group compared with a similar control group (-0.79%, ±0.24%; r=0.17, p=0.025). CONCLUSIONS: The addition of intensive art therapy for poorly controlled youth with T1DM may improve their glycemic control.

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. Immunoglobulin G antibodies against measles were strongly positive, with a high relative cerebrospinal fluid/serum ratio. Polymerase chain reaction for measles produced negative results. Electroencephalography registered slow activity with high voltage discharges every few seconds, and with triphasic complex morphology. Magnetic resonance imaging revealed diffuse white matter changes, mostly around the posterior regions and lateral ventricles. Treatment with valproic acid, levetiracetam, carbamazepine, and intravenous immunoglobulin G was ineffective. Inosiplex and interferon-ß-1a were also administrated. The patient became comatose, with generalized myoclonic jerks, and died 1 year later. An autopsy was not performed. This patient illustrates that subacute sclerosing panencephalitis should be suspected among young vaccinated subjects.

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. Hormonal, metabolic and antibody profile, imaging studies and molecular analysis were performed in 4 phenotypically compatible members, including the proband. RESULTS: Four subjects, 2 females and 2 males, had DM, absent pubertal development and similar appearance. None had extrapyramidal signs. The patients were homozygous for a one-base deletion mutation (c.436delC) in the C2orf37 gene. CONCLUSION: We describe the first Israeli-Arab family with phenotype and genotype of WSS, imitating autoimmune DM with gonadal failure.

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). We also aimed to recommend optimal treatment in these forms of thyroid impairment. DESIGN AND PATIENTS: A multi-centre, retrospective study was conducted in six paediatric endocrinology units. Forty-three HT patients and 83 CH patients were included in the study. Measurements We evaluated differences in birth weight (BW), gestational age (GA), modes of diagnosis, screening and confirmatory T(4) and TSH levels, thyroid imaging results and optimal thyroxine doses between HT and CH and between the two forms of HT. RESULTS: Newborns with HT had lower BW and GA than those with CH. Transient (n = 18) and persistent HT (n = 25) patients were indistinguishable by most parameters, but those with persistent HT had a higher prevalence of abnormal thyroid imaging (69%vs 8%; P = 0.005). During treatment, 79% and 55% of transient and persistent HT patients respectively experienced elevated levels of free T(4.) Although most HT patients were reevaluated after 2.5 years, six transient HT patients stopped therapy and showed full recovery within the first year of life. CONCLUSIONS: We recommend obtaining thyroid imaging to distinguish between the two forms of HT. Adherence to recommended doses of thyroxine and probably early cessation of therapy in transient HT can prevent iatrogenic hyperthyroidism in these patients.

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. Evidence demonstrates reduced bone mass in children with cerebral palsy; yet, no clear association with fractures. Preventive methods are suggested.

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. Creatine phosphokinase values were elevated, a finding consistent with rhabdomyolysis. Serum pH was normal and urine pH was 5. Serum urea and creatinine levels were normal. The child was treated with ceftriaxone and azithromycin. Oral phosphate was administered, followed by a rapid normalization of its serum level. Re-evaluation one and three months after discharge, while being off any therapy, showed the resolution of all metabolic abnormalities. We believe that the metabolic disturbances in this child were due to an acute and transient tubular dysfunction, possibly secondary to inflammatory/infectious induced tubulointerstitial nephritis (TIN). TIN presenting with an isolated tubular functional impairment, in the absence of any evidence of functional glomerular impairment, does not appear to have been described before.

[Papillary thyroid carcinoma with pulmonary metastases in a child].

Thyroid carcinoma is an uncommon disease in children, thus it is not always suspected early in the evaluation of a child with neck mass. Thyroid carcinoma in children can be treated effectively and has relatively good prognosis if diagnosed early. The lungs are the most common site for distant metastases and in many cases partial remission can be achieved with good quality of life. In this report we describe a child with bilateral neck masses diagnosed to have papillary thyroid carcinoma with neck and pulmonary metastases. This report aims to raise the physicians awareness of the disease in children. We review the diagnostic modalities and treatment of the disease in children.

Erythrocyte Na+,K+-ATPase and nasal potential in pseudohypoaldosteronism.

OBJECTIVES: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder characterized by salt-wasting due to target organ unresponsiveness to mineralocorticoids. PHA1 comprises two clinically and genetically distinct entities; isolated renal and systemic forms. DESIGN: The aim of this study was to investigate red blood cell (RBC) Na+,K+-ATPase activity and nasal potential difference (PD) in two pairs of unrelated dyzygous twins; one with the systemic form of the disease (PHA1-S) and the second with the isolated renal form (PHA1-R). Total and ouabain-sensitive ATPase activities were measured spectrophotometrically by a method that couples ATP hydrolysis with NADH oxidation. Maximal PD and response to amiloride perfusion were evaluated by a standard technique. RESULTS: In the twins with PHA1-S, persistently low activity of RBC Na+,K+-ATPase was found during a 6-year follow-up. Normalization of plasma renin activity (PRA) and plasma aldosterone was observed at the end of the first year of life. Maximal nasal PD was low and there was no significant response to amiloride. In the twins with PHA1-R, RBC Na+,K+-ATPase activity was very low at the time of diagnosis and normalized at the age of 6-8 months. PRA reverted gradually to normal values, whereas aldosterone levels remained high during the 6 years of follow-up. Maximal nasal PD and response to amiloride were normal. CONCLUSIONS: The observed differences in RBC Na+,K+-ATPase activity and nasal PD response to amiloride between the two pairs of twins support the contention of different basic pathogenic mechanisms in the two forms of PHA1.

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. RESULTS: In cells derived from controls, each pair of alleles replicated synchronously; yet these same alleles replicated asynchronously in cells monosomic for X chromosome derived from Turner and mosaic Turner patients. When the level of 45,X was low in the mosaic samples, the replication pattern of the 46,XX cells was normal. However, in samples with a high level of mosaicism, a significantly increased asynchronous replication was detected in the 46,XX cells. CONCLUSION: An altered temporal replication control in Turner syndrome affecting the aneuploid and euploid cells is shown. This alteration may potentially be involved in the determination of the syndrome.