Cutaneous and Developmental Effects of Overexpression in Zebrafish.

Background: Gain-of-function mutations in have recently been shown to be involved in the pathogenesis of psoriasis and pityriasis rubra pilaris (PRP). Those mutations were found to activate the NF-kB signaling pathway.

Objective: Zebrafish is often used to model human diseases in general, and in skin disorders more particularly.

Hematologic Adverse Events Associated With Prolonged Valganciclovir Treatment in Congenital Cytomegalovirus Infection.

Background: Valganciclovir (2/d) therapy for 6 months in neonates with symptomatic congenital cytomegalovirus (cCMV) infection improves hearing and neurodevelopmental outcome. The only reported adverse event was neutropenia. Since 2009, our protocol for symptomatic cCMV infection was a 1-year treatment of 2/d for the first 3 months followed by 9 months of 1/d.

Valganciclovir Is Beneficial in Children with Congenital Cytomegalovirus and Isolated Hearing Loss.

Objective: To evaluate the efficacy of antiviral treatment for infants with congenital cytomegalovirus (cCMV) with isolated sensorineural hearing loss (SNHL).

Study Design: Data were reviewed retrospectively for infants with isolated SNHL who received prolonged antiviral treatment between 2005 and 2017. Hearing status was evaluated for infants who had been followed for >1 year.

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.

Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously associated with a 1.5 Mb region on Xq26-q27. Here, we report a patient with hypocalcemia-induced seizures leading to the diagnosis of primary hypoparathyroidism.

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Microtubule dynamics play a crucial role in neuronal development and function, and several neurodevelopmental disorders have been linked to mutations in genes encoding tubulins and functionally related proteins. Most recently, variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimer, were reported to underlie a recessive neurodevelopmental/neurodegenerative disorder. We report on five patients from three unrelated families, who presented with microcephaly, intellectual disability, intractable seizures, optic nerve pallor/atrophy, and cortical atrophy with delayed myelination and thinned corpus callosum on brain imaging.

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, we identified 2 frameshift and 2 missense mutations in TSPEAR segregating with the disease phenotype in 3 families.

Overexpression of eukaryotic initiation factor 5 rescues the translational defect of tpk1w in a manner that necessitates a novel phosphorylation site.

Cells respond to changes in their environment through mechanisms that often necessitate reprogramming of the translation machinery. The fastest and strongest of all tested responses is the translation inhibition observed following abrupt depletion of glucose from the media of yeast cells. The speed of the response suggests a post-translational modification of a key component of the translation machinery.

An affective disorder in zebrafish with mutation of the glucocorticoid receptor.

Upon binding of cortisol, the glucocorticoid receptor (GR) regulates the transcription of specific target genes, including those that encode the stress hormones corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone. Dysregulation of the stress axis is a hallmark of major depression in human patients. However, it is still unclear how glucocorticoid signaling is linked to affective disorders.

Asc1 supports cell-wall integrity near bud sites by a Pkc1 independent mechanism.

Background: The yeast ribosomal protein Asc1 is a WD-protein family member. Its mammalian ortholog, RACK1 was initially discovered as a receptor for activated protein C kinase (PKC) that functions to maintain the active conformation of PKC and to support its movement to target sites. In the budding yeast though, a connection between Asc1p and the PKC signaling pathway has never been reported.

Targeting neural circuitry in zebrafish using GAL4 enhancer trapping.

We present a pilot enhancer trap screen using GAL4 to drive expression of upstream activator sequence (UAS)-linked transgenes in expression patterns dictated by endogenous enhancers in zebrafish. The patterns presented include expression in small subsets of neurons throughout the larval brain, which in some cases persist into adult. Through targeted photoconversion of UAS-driven Kaede and variegated expression of UAS-driven GFP in single cells, we begin to characterize the cellular components of labeled circuits.

Spectral sensitivity of melatonin suppression in the zebrafish pineal gland.

The pineal gland of the zebrafish (Danio rerio) is a clock-containing photoreceptive organ. Superfused pineal glands kept in darkness display rhythmic melatonin production that lasts for days, with high melatonin levels during the night and low levels during the day. Nocturnal light, however, evokes an acute suppression of melatonin synthesis in the photoreceptor cells.

Period2 expression pattern and its role in the development of the pineal circadian clock in zebrafish.

In zebrafish, pineal arylalkylamine-N-acetyltransferase (zfaanat2) mRNA expression begins at 22 h post-fertilization (hpf), and the clock-controlled rhythm of its transcript begins on the third day of development. Here we describe the role of light and of the clock gene, period2 (zper2) in the development of this rhythm. In 1-day-old zebrafish embryos, zper2 expression is transiently up-regulated by light in the pineal gland and, to a lesser extent, in other areas of the brain.

Zebrafish arylalkylamine-N-acetyltransferase genes - targets for regulation of the circadian clock.

Daily rhythms of melatonin production are controlled by changes in the activity of arylalkylamine-N-acetyltransferase (AANAT). Zebrafish possess two aanats, aanat1 and aanat2; the former is expressed only in the retina and the latter is expressed in both the retina and the pineal gland. Here, their differential expression and regulation were studied using transcript quantification and transient and stable in vivo and in vitro transfection assays.

Circadian time-keeping during early stages of development.

The zebrafish pineal gland is a photoreceptive organ containing an intrinsic central circadian oscillator, which drives daily rhythms of gene expression and the melatonin hormonal signal. Here we investigated the effect of light, given at early developmental stages before pineal gland formation, on the pineal circadian oscillator. Embryos that were exposed to light at 0-6, 10-13, or 10-16 h after fertilization exhibited clock-controlled rhythms of arylalkylamine-N-acetyltransferase (zfaanat2) mRNA in the pineal gland during the third and fourth day of development.

Functional development of the zebrafish pineal gland: light-induced expression of period2 is required for onset of the circadian clock.

In zebrafish, the pineal gland is a photoreceptive organ that contains an intrinsic circadian oscillator and exhibits rhythmic arylalkylamine-N-acetyltransferase (zfaanat2) mRNA expression. In the present study, we investigated the role of light and of a clock gene, zperiod2 (zper2), in the development of this rhythm. Analysis of zfaanat2 mRNA expression in the pineal gland of 3-day-old zebrafish embryos after exposure to different photoperiodic regimes indicated that light is required for proper development of the circadian clock-controlled rhythmic expression of zfaanat2, and that a 1-h light pulse is sufficient to initiate this rhythm.

Parkinson's disease symptoms--patients' perceptions.

Self-assessment is significant for the accurate evaluation of patient' needs. This study examined the frequency and severity of symptoms reported by 39 patients with Parkinson's disease and compared them with symptoms suggested by the literature and by specialists as bothering Parkinson's patients. Four categories of symptoms were examined: (a) motor disability or activity loss, (b) mental change, (c) psychosocial difficulties, and (d) nonspecific symptoms.

The effect of an alphanumeric paging system on patient compliance with medicinal regimens.

There are numerous actual and potential impediments to patient compliance with medicinal regimens. The implications of poor compliance include worsening disease states or symptoms, with resultant increased costs of care. Using a population of hospice patients at high risk for noncompliance, this study evaluated the use of an alphanumeric paging system as a memory prosthetic, finding that compliance rose from a mean of 56 percent to 96 percent when the system was used.

The moderating effect of age on self-care.

The study examined the moderating effect of age on the relations between symptom severity, self-care and others' care, patients' perception of the extent of problem solution, their satisfaction with the solution, and their perception of control over their health. Participating in the study were 121 female and 167 male chronically ill patients. Results indicated that age did play a major role in the relations between self-care and others' care and self-care outcomes.

Ethical reasoning concerning the feeding of severely demented patients: an international perspective.

Structured interviews were held with 149 registered nurses in seven countries in America, Asia, Australia and Europe concerning the feeding of severely demented patients who do not accept food. The most common reasons for nurses being willing to change their decision to feed or not to feed were an order from the medical head, a request from the patient's husband and/or the staff meeting. There was a connection between the willingness to feed and the ranking of ethical principles.

From diploma to degree: follow up of R.N.-B.A. graduates of Tel Aviv University.

The Tel Aviv University post-basic nursing program, established in 1968, was the first step of nursing academization in Israel. Since then, one-third of the nursing schools in Israel have been academized. The objectives of the present study were to document changes in the worklife of the graduates since completion of the program, to learn about the influence of the program, and to identify factors promoting or impeding study in the program.

Academia--a stimulus for change.

When the Department of Nursing at Tel Aviv University celebrated its 20th anniversary in 1988, interest was generated on this programme's impact on its graduates and on their contribution to nursing in Israel. Based on a previous study, a questionnaire was sent to 709 graduates, of which 46.8% responded, and a telephone survey was made of 20% of nonrespondents.

An evaluation of the internship program: the Jerusalem experience.

Concurrent evaluation of an internship which was part of a four year BSN programme, at the Haddassah School, of Nursing was conducted. Data for this evaluation included input from students, teachers and clinical preceptors who answered questionnaires regarding goals' accomplishments in this particular programme. The results consists of both statistical and content analysis of the evaluation.

Ethical reasoning associated with the feeding of terminally ill elderly cancer patients. An international perspective.

An international nursing research study examined the ethical decision-making of "good and experienced" registered nurses in eight countries. The subjects were asked about their decision to feed or not to feed a hypothetical terminally ill, mentally alert, elderly cancer patient who refuses to eat. Cultural variations were demonstrated in the decisions as well as differences in ethical justification.

Follow-up of Hadassah Nursing School's first seven graduate classes.

This article presents a study that evaluated the work performance of the first seven graduate classes of Hadassah Nursing School, The Hebrew University of Jerusalem, Israel. Most of the graduates were located and their fields of employment and future professional plans determined. Strengths and weaknesses in the graduates' practical work are discussed.