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1.
PeerJ ; 6: e4507, 2018.
Article in English | MEDLINE | ID: mdl-29576974

ABSTRACT

Israel represents a complex and pluralistic society comprising two major ethno-national groups, Israeli Jews and Israeli Arabs, which differ in terms of religious and cultural values as well as social constructs. According to the so-called "diversification hypothesis", within the framework of e-health and in the era of new information and communication technologies, seeking online health information could be a channel to increase health literacy, especially among disadvantaged groups. However, little is known concerning digital seeking behavior and, in particular, digital mental health literacy. This study was conducted in order to fill in this gap. Concerning raw figures, unadjusted for confounding variables (time, population size, Internet penetration index, disease rate), "depression" searched in Hebrew was characterized by 1.5 times higher search volumes, slightly declining throughout time, whereas relative search volumes (RSVs) related to "depression" searched in Arabic tended to increase over the years. Similar patterns could be detected for "phobia" (in Hebrew 1.4-fold higher than in Arabic) and for "anxiety" (with the searches performed in Hebrew 2.3 times higher than in Arabic). "Suicide" in Hebrew was searched 2.0-fold more than in Arabic (interestingly for both languages search volumes exhibited seasonal cyclic patterns). Eating disorders were searched more in Hebrew: 8.0-times more for "bulimia", whilst "anorexia" was searched in Hebrew only. When adjusting for confounding variables, association between digital seeking behavior and ethnicity remained statistically significant (p-value < 0.0001) for all psychiatric disorders considered in the current investigation, except for "bulimia" (p = 0.989). More in details, Israeli Arabs searched for mental health disorders less than Jews, apart from "depression". Arab and Jewish Israelis, besides differing in terms of language, religion, social and cultural values, have different patterns of usage of healthcare services and provisions, as well as e-healthcare services concerning mental health. Policy- and decision-makers should be aware of this and make their best efforts to promote digital health literacy among the Arab population in Israel.

2.
Medicine (Baltimore) ; 95(6): e2710, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26871809

ABSTRACT

Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births). We discuss how the disease presents, its genetic underpinning, and its prevention.The case was encountered in an Arab male born on 1 September, 2014, for consanguineous parents. The delivery was via cesarean section at 37 weeks gestation due to severe intrauterine growth restriction and nonprogress labor term. The patient was admitted to the Neonatal Intensive Care Unit due to infection, and jaundice. Dysmorphic features, abnormalities of the craniofacial region, low birth weight, skin abnormalities, abdominal distension and hypertrichosis were observed. Laboratory examinations showed, hyperinsulinism, increased C-peptide, thrombocytopenia, leucopenia, and anemia.The diagnosis of DS was done based on the combinations of typical dysmorphic characteristics, clinical evaluation, supported by genetic analysis and exaggerated biochemical results. Genetic diagnosis of DS was performed through analysis of DNA via polymerase chain reaction (PCR). A qualitative real-time PCR was used, to monitor the amplification of a targeted DNA molecule during the PCR. Other technique using sequencing of the INSR gene, which permits genetic diagnosis, counseling, and antenatal diagnoses in subsequent pregnancies, were also performed.Treatment of DS is supportive and requires the combined efforts of a multidisciplinary team, which include pediatricians, endocrinologists, dermatologists, and other health care professionals. Currently, treatment with recombinant insulin-like growth factor 1 demonstrates effectiveness, and a combination treatment with insulin-like growth factor binding protein 3 resulted in an increased lifespan.There is a scarcity of genetic information on DS among the Arab population. Consanguinity is one of underlying reasons for the appearance of rare genetic disorders. Inbreeding has long been considered a controversial phenomenon. Genetic counseling and overwhelming the alertness of the negative consequences of consanguinity on public health are warranted.


Subject(s)
Donohue Syndrome/diagnosis , Consanguinity , Donohue Syndrome/genetics , Fatal Outcome , Humans , Infant , Infant, Newborn , Male
3.
Medicine (Baltimore) ; 95(3): e2362, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26817868

ABSTRACT

Smith-Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia. The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.Throughout his hospitalization, feeding difficulties appeared and thus a peripheral venous catheter was inserted in the left leg.After 22 days of follow-up and hospitalizations, the patient status improved and he was discharged with recommendations to be in follow up in pediatric outpatient clinic.However, notwithstanding the different investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features. Suspicions of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for fluorescent in situ hybridization (FISH) testing.The genetic results revealed the following: cytogenetic findings: 46, XY, del(17)(p11.2) and the FISH results: del(17)(p11.2p11.2) (D17S29). The chromosome diagnosis revealed an interstitial deletion of 17p11.2 and the diagnosis of the SMS was confirmed.Accurate clinical diagnosis, therapeutic assessments and a holistic management plans, including multidiscipline therapeutic strategies, periodic neuro-developmental assessments, and an early intervention programs, are recommended.However, cytogenetic analysis or FISH using an RAI1-specific probe is the most frequently used technique for DS. Sleep and behavioral disturbances treatment include a combination of the daytime dose of acebutolol with an evening oral dose of melatonin. Melatonin as chronobiotic, antioxidant, and analgesic agent showed to be effective in different primary sleep disorders and in those associated with neurobehavioral disorders. Based on the beneficial effect of melatonin, it will be useful to use serum levels of melatonin as a follow-up test.


Subject(s)
Arabs/genetics , Smith-Magenis Syndrome/genetics , Acebutolol/therapeutic use , Adrenergic beta-1 Receptor Antagonists , Antioxidants/therapeutic use , Chromosome Deletion , Drug Combinations , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Israel/epidemiology , Male , Melatonin/therapeutic use , Phenotype , Residence Characteristics , Smith-Magenis Syndrome/diagnosis , Smith-Magenis Syndrome/drug therapy
4.
J Clin Imaging Sci ; 3: 50, 2013.
Article in English | MEDLINE | ID: mdl-24404409

ABSTRACT

Neonatal terminal ileum volvulus in the absence of malrotation has never been reported before in English literature. However, another similar rare entity known as neonatal primary segmental volvulus without malrotation has been reported before. Volvulus, in general, is an extreme emergency and cases not diagnosed in time lead to death. The main diagnosis is based on radiological features seen on imaging. We present a case of volvulus of terminal ileum that was diagnosed and surgically treated at age of 15 h ensuring the newborn survived. The definitive diagnosis was based mainly on ultrasonographic findings.

5.
Eur J Endocrinol ; 162(6): 1021-5, 2010 Jun.
Article in English | MEDLINE | ID: mdl-20231366

ABSTRACT

OBJECTIVE AND DESIGN: A homozygous loss-of-function mutation in the gene RBM28 was recently reported to underlie alopecia, neurological defects, and endocrinopathy (ANE) syndrome. The aim of the present study was to characterize the endocrine phenotype of ANE syndrome and to delineate its pathogenesis. METHODS: Detailed neuroendocrine assessment was performed in five affected male siblings harboring the homozygous p.L351P mutation in RBM28. RESULTS: All five affected patients, aged 20-39 years, displayed absent puberty, hypogonadism, and variable degrees of short stature. Low IGF1 concentration and a lack of GH response to provocative tests in all siblings were consistent with GH deficiency. Low testosterone and gonadotropin levels with absence or low response to GnRH stimulation indicated hypogonadotropic hypogonadism. ACTH deficiency evolved over time, and glucocorticoid replacement therapy was initiated in four patients. Thyroid analysis showed variable abnormal TSH response to TRH stimulation, suggesting hypothalamic compensated hypothyroidism in four subjects and laboratory hypothyroidism (low free thyroxine) in one patient. Low prolactin levels were shown in one case. CONCLUSIONS: The endocrine defects characteristic of ANE syndrome are compatible with variable combined anterior pituitary hormone deficiency (CPHD), which evolves gradually over the years, indicating long-term hormonal monitoring. We propose that defects in the cellular Wnt/beta-catenin signaling pathway underlie this endocrinopathy. RBM28 gene defects should be added to the growing list of gene defects associated with syndromic CPHD.


Subject(s)
Alopecia/genetics , Endocrine System Diseases/genetics , Hypopituitarism/genetics , Nervous System Diseases/genetics , RNA-Binding Proteins/genetics , Adult , Humans , Male , Mutation/genetics , Siblings , Syndrome
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