Nocturnal acute laryngospasm in children: a possible epileptic phenomenon

Respiratory difficulties are not uncommon during epileptic activity in all age groups. Laryngospasm, as an isolated manifestation of epileptic disorder, is a rare phenomenon described previously in only two patients. We report our experience with five children in whom nocturnal laryngospasm was the only clinical manifestation of their epileptic disorder. All children underwent extensive workup and the diagnosis was made by sleep-deprived electroencephalography (two cases) and sleep study (three cases). All patients were treated with carbamezapine with prompt resolution of their laryngospasm.     

Inhibition of human red blood cell glutathione reductase by valproic acid.

Glutathione reductase (GR) one of the enzymes of the glutathione redox cycle, plays a salient role in maintaining appropriate cellular levels of reduced glutathione. The enzyme in human red blood cells is inhibited in vitro by the anticonvulsant drug valproic acid (VPA). The inhibition is dose-dependent, reversible, uncompetitive and does not depend on the redox state of the enzyme. VPA also inhibits red blood cell GR activity in children being treated with the drug. The level of serum VPA correlates significantly with the suppression of GR activity.     

Peripheral facial nerve paralysis in children: the value of routine diagnostic work-up studies

Acute facial nerve paralysis is a relatively common pediatric disorder. Idiopathic facial nerve palsy (Bell's palsy) has to be distinguished from other etiologies. Retrospective review of the results of routine diagnostic work-up studies of our patients, failed to reveal any clinically significant abnormalities and did not provide more data as far as etiology or indication for management. Significant history and positive findings on physical examination should direct the physician towards specific diagnostic procedures.     

The 'immunological-synapse' at its APC side in relapsing and secondary-progressive multiple sclerosis: modulation by interferon-beta

Reciprocal interactions between T cells and antigen-presenting cells (APCs) within the 'Immunological-Synapse' (IS) govern immune cell autoreactivity in multiple sclerosis (MS). The present study examined the expression of a range of co-stimulatory molecules: CD40, CD54, CD80, CD86 and HLA-DR, on the cell-surface of CD14(+) peripheral blood monocytes (PBM) from relapsing-remitting (RR) and secondary-progressive (SP)-MS patients, prior to and during 1 year of Interferon (IFN)-beta-1a (Rebif(R)) therapy. Prior to treatment, patients from both MS subtypes expressed elevated CD80 and reduced CD40 levels in comparison to controls. CD86 expression was significantly reduced in SP compared to RR patients and controls. IFN-beta therapy led to a significant reduction in the expression of CD54 and CD80 in both groups of patients as well as to elevation of CD40 and CD86 expression in SP patients. These results confirm IFN-mediated modulation of the APC surface within the immunological-synapse and implicate CD80 and CD86 as targets for interventional therapies in MS as well as other Th1-mediated autoimmune diseases.     

Telomerase activity in patients with transitional cell carcinoma: a preliminary study

BACKGROUND: Telomerase activity is not detectable in normal cells, and their telomers shorten until the chromosome is unable to replicate. Immortal cells have short but stable chromosomes and increased telomerase activity. Transitional cell carcinoma (TCC) has only a few useful markers of diagnostic or prognostic importance. The objective of this study was to determine whether there was a correlation between telomerase activity and the grade or stage of TCC, and whether the enzyme's activity could serve as a biochemical marker of this tumor. METHODS: The study included 29 patients with TCC. From each patient, samples of urine cells were obtained, and a cup biopsy was taken from an apparently normal area as well as from a part of the bladder tumor resected transurethrally. Control uroepithelial biopsies were taken from normal transitional cell sites from non-TCC patients. Biopsies or cells were subjected to either histologic examination or telomerase activity determination. RESULTS: Twenty-six of 29 (90%) of the tumor biopsies exhibited telomerase activity. Most of the cup biopsies were categorized as metaplastic or dysplastic, and 20 of 29 (69%) of these exhibited telomerase activity. Telomerase activity was found in 17 of 21 (81%) of the urine cells but in only 3 of 14 (21%) of control urine cells. All (10 of 10) of the uroepithelial biopsies taken from non-TCC patients did not show any telomerase activity. CONCLUSIONS: In this study, almost all tumor biopsies exhibited telomerase activity. The high incidence of telomerase activity found in cup biopsies of the malignant field uroepithelial cells from cup biopsies of TCC patients may suggest that telomerase could be activated early in carcinogenesis. A high incidence of telomerase activity was found in voided uroepithelial cells of TCC patients; however, no correlation between this activity and the histologic determination of grading and staging of the tumor was found.     

Risk of Hepatitis A Virus Infection among Sewage Workers in Israel

Sewage workers are exposed to a wide range of chemicals and biological agents, including the hepatitis A virus. Inasmuch as Israel is an endemic area for hepatitis A, it is unclear if sewage workers are at increased risk for hepatitis A or which factors contribute to such risk. The authors compared seropositivity of hepatitis A in 100 sewage workers with that in 100 blue-collar worker controls. Hepatitis A seropositivity was highly prevalent, but nonsignificant, in both sewage workers and controls (82% and 91%, respectively). In sewage workers, the major risk for serological positivity was age (odds ratio = 4.5, 95% confidence interval = 1.6, 12.4 for every 10 y). The factors associated negatively with seropositivity were years of education and years of seniority. The authors concluded that exposure to sewage is not a risk factor for hepatitis A infection in Israel, and, therefore, sewage workers do not require special attention in this regard.     

Long-term follow-up of children born after inadvertent administration of a gonadotrophin-releasing hormone agonist in early pregnancy.

Our objective was to evaluate long-term outcome of children born after inadvertent administration of a gonadotrophin-releasing hormone agonist (GnRHa) in early pregnancy, compared to a control group of children born to matched women undergoing in-vitro fertilization and children born after spontaneous pregnancies. Six children from six pregnancies, exposed to a long-acting gonadotrophin agonist, comprised the study group and 20 children were included in the control groups. Pre-, peri- and postnatal data were collected and the children were followed and examined at a mean age of 7.8 +/- 2.0 years. All children underwent physical and neurological examination, and psychological tests. In the study group, one child was born with a major congenital malformation (cleft palate), and four children subsequently demonstrated neurodevelopmental abnormalities, including epileptic disorder (n = 1), attention deficit hyperactivity disorder (n = 3), motor difficulties (n = 3) and speech difficulties (n = 1). In the control groups, one child had attention deficit hyperactivity disorder. This observation of neurodevelopmental abnormalities in four of six children in the study group justifies the need for long-term follow-up of more children previously exposed to gonadotrophin-releasing hormone agonist.     

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)

Introduction: Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 other individuals with different recessive mutations. Methods: Autozygosity mapping and whole exome sequencing were applied after we identified 9 Palestinian patients from 7 unrelated families who have nemaline myopathy. Results: All patients were homozygous for a novel complex rearrangement of the TNNT1 gene (c.574_577delinsTAGTGCTGT | NM_003283) leading to C‐terminal truncation of the protein (p.L203* | NP_003274.3). Their clinical course was remarkable for early respiratory failure and striking stiffness of the cervical spine. Conclusions: This report exemplifies the utility of combining autozygosity mapping and whole exome sequencing and expands the phenotype associated with TNNT1 mutations. Muscle Nerve 53 : 564–569, 2016     

Infantile encephalopathy due to vitamin deficiency in industrial countries

Introduction

Severe avitaminosis causing life-threatening conditions in the infantile age group is extremely uncommon and has been reported in babies with malabsorption receiving prolonged inadequate vitamin supplements.

Case reports

We report two infants who presented with neurological deterioration. Immediate work-up and treatment for infectious and inborn metabolic disorders were initiated and the diagnosis, made with a few days delay, was prolonged avitaminosis of thiamine (B1) and cobalamin (B12). B1 deficiency was suspected when further neurological deterioration was observed during administration of intravenous fluids containing glucose in an infant with high lactate levels in the cerebrospinal fluid. High transketolase activity that normalized after thiamine treatment and the findings in the MRI and MRS of the brain confirmed the suspected diagnosis. B12 deficiency was suspected in an infant of a strict vegetarian mother who presented with neurological deterioration and severe megaloblastic anemia. The diagnosis was confirmed when low serum levels of B12 and methylmalonic aciduria were detected and treatment with B12 resulted in normalization of urinary methymalonic acid.

Conclusion

Avitaminosis, even in industrialized countries, should be considered in an atypical age group with no known risk factors. Early diagnosis and prompt treatment may accomplish a quick recovery with fewer sequelae.