Esther Manor's research while affiliated with Ben-Gurion University of the Negev and other places
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Publications (104)
Many chromosome assays rely on the quantification of chromosome abnormalities in cells, and one important abnormality is the existence of more than one centromere for each chromosome. The quantification of such abnormalities has been studied before. However, this process is labor-intensive and time consuming. Thus, this assay is challenging for ex-...
Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Othe...
Background:
The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating AGG loss to the prevalence of premutation/full mut...
Respiratory chain disorders comprise a heterogeneous group of diseases that are the result of mutations in nuclear or mitochondrial genes. TMEM70 encodes a nuclear protein involved in the assembly of respiratory chain complex V. Although mutations in various genes can result in isolated complex V deficiency; TMEM70 mutations represent the most comm...
Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo‐domin...
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the maternal unstable allele which was inherited from his mat...
Environmental hazards were shown to have an impact on cell proliferation (CP). We investigated CP of lymphocytes in umbilical cord blood in relation to prenatal environmental exposures in a sample of 346 Arab-Bedouin women giving birth in a local hospital. Information on subjects' addresses at pregnancy, potential household exposures and demographi...
Mucoceles are common cystic lesions of the oral mucosa. Extravasation mucoceles (EMs) are mainly found in the lower lip of young patients, whereas retention mucoceles (RMs) are usually located in the cheek or palate of older patients. This study was undertaken to more fully characterize the clinicopathologic features of mucoceles in pediatric patie...
An association between prenatal exposure to (semi-)metals and of neonatal morbidity was assessed by introducing an oxidative stress as a possible intermediate step. An oxidative stress was measured by cell proliferation (CP) ratio in umbilical cord blood cells. Urine samples of 18 out of 58 enrolled women (31%) were positive for (semi-)metals; 25.9...
Schwannoma is a benign neoplasm originating from the neural sheath and occuring most often in the soft tissues of the head and neck. Intraosseous schwannoma (IS) is extremely rare, most commonly occurring in the mandible. This paper documents a case of IS and the histopathology, karyotyping, CT, and MRI in the diagnostic work-up. Histologically it...
To review the literature on reported cases of squamous cell carcinoma (SCC) of the oral cavity in patients twenty-years-of-age or younger. All well-documented cases of oral SCC in patients twenty-years-of-age or less, published between 1936 and 2012, were collected and the clinicopathologic features were evaluated. Primary cases of oral SCC were se...
Components present in the acellular fraction of blood influence the blood cell survival and function and the response to biotic and abiotic factors. Human plasma and sera have been used as therapeutic agents and are known to increase cell survival. White blood cells in normal blood are exposed to plasma components in vivo, but the effect of such pl...
Fourier transform infrared spectroscopy was used to evaluate the effects of autologus human plasma on peripheral blood mononuclear cells with a view to understanding the biochemical changes associated with increased survival.
The accessory submandibular gland is a rare anatomic variant and the incidence of pathology reported within an accessory submandibular gland is even rarer. This report describes the case of a 22-year-old woman who presented with a slowly enlarging mass in the submandibular triangle, which on ultrasound examination suggested that it was close to, bu...
PURPOSE: Central giant cell granuloma is a benign entity that commonly occurs in the mandible and maxilla. It is usually treated by surgical excision, varying from curettage to en bloc resection. Because the entity is more common in diseases such as neurofibromatosis, a genetic element may be involved in its pathogenesis. Cytogenetic studies of cen...
Peripheral ameloblastoma (PA) is a rare, extraosseous odontogenic tumor with histologic features similar to those of the more common intraosseous ameloblastoma. The exact nature and tumorigenesis of PA are unclear. Although there are some reports on the cytogenetics of intraosseous ameloblastoma, to the authors' knowledge, there are no studies on t...
A 32-year-old female underwent an extracapsular dissection for a pleomorphic adenoma (PA) of the parotid gland. Six months later, she presented with an increasing lump on the upper lip that, following excision, was confirmed to be a second PA. Formalin-fixed paraffin embedded tissues were analyzed for chromosomal aberrations. Comparative genomic hy...
Solitary fibrous tumor (SFT) is a rare benign tumor that occurs most frequently in the pleura. It is considered rare in the maxillofacial area. Two new cases of SFT of the buccal vestibule are reported. The previously reported cases of oral SFT are reviewed. The tumors were composed of spindle-shaped cells that were arranged haphazardly and were po...
Background. Ameloblastic fibroodontoma (AFO) is a rare mixed odontogenic tumor with epithelial and mesenchymal components. AFO presents as a painless swelling in the mandible or maxilla. Radiographs show a well-defined radiolucent area containing various amounts of radiopaque material of irregular size and form. The common treatment is enucleation....
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary sensory and autonomic neuropathy (HSAN) characterized by pain, self-mutilating behaviour, anhidrosis and recurrent hyperthermia. CIPA has a multisystem involvement, including fractures of the extremities with slow healing, immunologic abnormalities, and a chronic inflammat...
O-linked β-N-acetylglucosamine (O-GlcNAc) glycosylation is a regulatory post-translational modification occurring on the serine or threonine residues of nucleocytoplasmic proteins. O-GlcNAcylation is dynamically regulated by O-GlcNAc transferase and O-GlcNAcase (OGA), which are responsible for O-GlcNAc addition and removal, respectively. Although O...
Medulloblastoma (MB) is an embryonal brain tumor of the cerebellum, it accounts for 4–6% of all primary intracranial tumors. It is the most common malignant brain tumor in children representing 15–30% of all pediatric brain tumors, with 85% of MB being diagnosed in patients younger than 18 years of age. MB is rare in adults and accounts for less th...
PURPOSE: Cytogenetic analysis of a pleomorphic adenoma (PA) arising in the major salivary glands, in particular the parotid, is well documented, with chromosome 8 being the most commonly involved aberration, mainly in t(3;8). However, cytogenetic studies of PA in the minor salivary glands (MSGs) are rare and, to the authors' knowledge, only 3 repor...
Adenomatoid hyperplasia of minor salivary glands is rare, idiopathic, and benign, and typically presents as a tumour-like mass in the hard or soft palate. Its exact nature is not clear and histological examination usually shows an excess of normal-appearing minor salivary glands. To our knowledge, cytogenetic analysis of it in a minor salivary glan...
Little is known about the characteristics of cutaneous sinus tract (CST) of dental origin in children. 28 cases of CST of dental origin in children were evaluated. Age, sex, site of skin lesion, duration until diagnosis, teeth involved, etiology, treatment, and outcome were recorded. The last dental care visit was also recorded. The mean age was 10...
Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour of childhood and has two main subtypes: embryonal and alveolar. The embryonal subtype accounts for most cases in the genitourinary tract and head and neck. Oral presentations are rare, and mainly in the tongue, palate, or cheek. Cytogenetically, alveolar RMS is characterised by...
The present study examined the possible use of autologous human plasma (AHP) to improve the in vitro culture for cytogenetics of benign and malignant oral tumor cells. The effect of AHP on the growth of a variety of benign and malignant head and neck tumor cells was studied by inverted microscope and cytogenetic analysis. Minced tumor biopsies of c...
Three hundred and twenty-two patients (192 male and 130 female) with cystic lesions of the jaw were successfully diagnosed and treated. One hundred and fifty-five (48%) were radicular cysts, 80 (25%) were dentigerous cysts, 23 (7%) were odontogenic keratocyst (=keratocystic odontogenic tumor), 19 (6%) were eruption cysts, 16 (5%) were traumatic bon...
Neuroblastoma (NB) jaw metastases are rare. Here, we report on cytogenetic and genetic studies on metastatic NB to the mandible. A 7-year-old boy, with an abdominal neuroblastoma, presented with a mass of the left body of the mandible. Cytogenetic analysis of the original tumor and the mandibular lesion biopsies revealed similar heterogenous subclo...
Ewing sarcoma is a malignant tumour of bone that is seen most often in children and young adults. The usual primary sites are the extremities, trunk, pelvis, and skull, and presentation in the mandible is rare. Cytogenetically it is characterised mainly by the translocation t(11;22)(q24;q12), which has an important role in the establishment of the...
The tumorigenesiss of oral solid tumors is still uncertain. The underlying mechanisms of epithelial or connective tissue proliferation are not yet fully understood. Also, the transformation of a benign tumor into malignant is obscure. Cytogenetics is the study of chromosome number and structure using a light microscope. Human chromosome nomenclatur...
Chromosome analysis of tumor cells plays an important role in the diagnosis, prognosis and follow up of many malignancies. It is a standard of care in hemato-oncology. Culturing solid tumor cells in vitro is essential for cytogenetic analysis. The success in getting specific chromosomal aberrations in solid tumors after in vitro culturing is limite...
The pathogenesis of cysts that arise in the jaws is still not certain, and the underlying mechanisms of epithelial proliferation are not fully understood. Cysts of the jaw may involve a reactive, inflammatory, or neoplastic process. Cytogenetics, the study of the number and structure of chromosomes, has provided valuable information about the diagn...
To review the literature on primary intraosseous squamous cell carcinoma (PIOSCC) associated with odontogenic cyst.
All well-documented cases of PIOSCC published between 1938 and 2010 were collected. Only cases of PIOSCC arising from the lining of an odontogenic cyst, including the keratocystic odontogenic tumor, were selected. Age, sex, signs and...
In primary ciliary dyskinesia (PCD), genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility. The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein complexes responsible for cil...
Lipomas are common soft-tissue tumors but occur infrequently in the oral region. Here, we present 58 new cases of oral lipoma (OL), their clinical features, diagnostic workup, and management. The records of 58 patients with OL were reviewed. Demographic data, presenting symptoms, primary tumor site, histopathology, and clinical management were anal...
Genetic disorders of excessive salt loss from sweat glands have been observed in pseudohypoaldosteronism type I (PHA) and cystic fibrosis that result from mutations in genes encoding epithelial Na+ channel (ENaC) subunits and the transmembrane conductance regulator (CFTR), respectively. We identified a novel autosomal recessive form of isolated sal...
In this retrospective study we reviewed the distribution, characteristics, and treatment of 27 cystic jaw lesions in edentulous patients, and compared these with 242 cysts in dentate patients. The mean age was 60 years (range 46-74), and the male:female ratio 4.4:1. The maxilla was more affected than the mandible, with radicular/residual cysts bein...
Two hundred and sixty-nine patients (160 males and 109 females) with cystic lesions of the jaw were successfully diagnosed
and treated. One hundred and twenty-nine (48%) were radicular cysts, 67 (25%) were dentigerous cysts, 19 (7%) were primordial
cysts, 16 (6%) were eruption cysts, 14 (5%) were traumatic bone cysts, and 17 (9%) were nonodontogeni...
Cardiomyopathies are common disorders resulting in heart failure; the most frequent form is dilated cardiomyopathy (DCM), which is characterized by dilatation of the left or both ventricles and impaired systolic function. DCM causes considerable morbidity and mortality, and is one of the major causes of sudden cardiac death. Although about one-thir...
SCN9Aencodes the voltage-gated sodium channel Na(v)1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Diso...
Tongue squamous cell carcinoma (SCC) has an increasing incidence, a high morbidity rate, and a 50% 5-year survival rate. The prognosis of tongue SCC is poor compared to SCC originating at other sites in the oral cavity, because they represent different biological subentities. Cytogenetic studies of head and neck SCC showed more losses than gains of...
Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. We present the identification of an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiest...
Medulloblastoma is a malignant invasive embryonal tumor of the cerebellum, representing 15-30% of pediatric brain tumors. An i(17q) abnormality appears in 40% of medulloblastomas, and usually not as a sole aberration; however, cytogenetic data for medulloblastoma are limited. Cytogenetic work-up of tumors is an important tool for diagnosis and prog...
Sarcoma botryoides (SB) is a subtype of embryonal rhabdomyosarcoma (ERMS), which belongs to the most common soft-tissue sarcoma in infancy and childhood, the rhabdomyosarcoma (RMS). Most of the vaginal RMS belong to SB, which is five times more common than the cervical ERMS. To date, there is no doubt regarding the significance and importance of ch...
Current risk calculations for trisomy 21, which are based on multiples of median (MoM), do not take into account possible differences between euploid and trisomy 21 pregnancies that may develop with gestational age. In order to optimize the predictive value of screening tests, we calculated the ratio between maternal serum concentration of alpha-fe...
Intraosseous schwannoma is rare, and most commonly occurs in the mandible. Benign classic schwannomas commonly carry normal karyotypes admixed with aberrant near-diploid karyotypes with a few simple clonal chromosome changes, mainly numerical. No consistent chromosomal aberrations have been observed so far. It is unclear whether the chromosomal abn...
McCune-Albright syndrome is a sporadic disorder characterized by polystotic fibrous dysplasia, pigmented patches of skin, and endocrinological abnormalities.
To compare the genetic characteristics of the GNAS1 gene in a monozygotic pair of twins, one of whom was diagnosed with MAS while the other had no indication of the syndrome.
We performed a mo...
Serum and plasma contain species-specific factors that modulate cell population growth and function, and that are required for proliferation of most cell cultures. Foetal calf serum (FCS) is the most common source of these growth factors. We studied the effect of human plasma (HP) on the immortalization process of B lymphocytes by Epstein-Barr viru...
Angiokeratoma is a rare cutaneous lesion. It can be either a generalized systemic form, presenting as multiple asymptomatic papules on the skin, associated with metabolic diseases or a solitary cutaneous form. Oral cavity involvement is more common in the systemic form, as a part of a more generalized cutaneous disease, but very rare in the localiz...
Angiomyoma is an uncommon, benign, soft tissue tumour characterised by bundles of smooth muscle cells intermixed with numerous vascular channels, which usually develops in the lower extremities. Oral manifestations are quite rare. Most oral cases occur in the lips and tongue; angiomyoma affecting the buccal vestibule is very rare. A case of angiomy...
Lethal congenital contractural syndrome (LCCS) is a severe form of arthrogryposis. To date, two autosomal recessive forms of the disease (LCCS and LCCS2) have been described and mapped to chromosomes 9q34 and 12q13, respectively. We now describe a third LCCS phenotype (LCCS3)--similar to LCCS2 yet without neurogenic bladder. Using 10K single-nucleo...
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. We previously mapped LCCS2 to 6.4 Mb on chromosome 12q13 and have now narrowed the locus to 4.6 Mb. We show that the disease is caused by aberrant splicing of ERB...
The results of cytogenetic analysis of a solitary fibrous tumor (SFT) of the oral cavity in a 43-year-old man is reported. The abnormal cells carried a complex translocation with the karyotype 46,XY [15 cells]/46,XYt(1;17;18)(p13;q11.2;q21)[5 cells]. This is the first case reporting chromosomal aberrations in an oral SFT.
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital contracture syndromes, some of which are hereditary. To date, four genetic loci associated with autosomal recessive arthrogryposis syndromes have been identified using the powerful tools of genome-wide linkage analysis and homozygosity mapping. In the consanguineous inb...
The diagnosis of metastatic lesion to the jaws is difficult, challenging and is based mainly on histopathology. Distant metastasis of basal cell adenocarcinoma (BCAC) to the mandible from salivary gland tumor is considered rare. A case of mandibular metastasis from parotid BCAC is reported. The use of cytogenetics in the diagnostic work-up is descr...
The case of an 11-year-old child with adult-type chronic myeloid leukemia, Philadelphia (BCR-ABL) positive, reverse transcription-polymerase chain reaction negative for the major, minor, and micro breakpoints is presented. In the course of 3 years, the child failed to respond to treatment with hydroxyurea, refused all therapy for 6 months, was into...
Basal cell adenocarcinoma (BCAC) of the salivary glands is rare. Distant metastasis to the mandible from a salivary gland tumor is also considered rare. The cytogenetic finding of a case of metastatic BCAC of the mandible is described. We are unaware of earlier reports regarding cytogenetic findings of BCAC either at the primary site or at a distan...
The possibility that environmental effects are associated with chromosome aberrations and various congenital pathologies has been discussed previously. Recent advances in the collection and computerization of data make studying these potential associations more feasible. The aim of this study was to investigate a possible link between the number of...
We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urinary bladder. Association of LCCS2 to the known loci associated...
In summary, we describe a patient diagnosed with a mild form of DiGeorge syndrome late in life. This report underscores the importance of the special vigilance required when treating patients emigrating from medically under-served countries, particularly the need to consider pediatric diseases that may present in adult patients, as a full-blown syn...
Here we describe a cytogenetic and flow-cytometric study of a case in which a conversion of childhood acute lymphocytic leukemia (ALL) into juvenile myelomonocytic leukemia (JMML) occurred. A 3-year-old boy diagnosed CALLA+, pre-B-ALL with double t(12;21) (by fluorescence in situ hybridization analysis), was treated as per the BFM protocol. A cytog...
Second trimester maternal serum biochemical markers, introduced between 1990 and 1995, were supplemented with new ultrasound methods at 14-16 weeks and first trimester biochemical markers between 1995 and 2000. This study evaluated the effectiveness of a Down syndrome (DS) prevention program among the Israeli Jewish population between 1990 and 2000...
The present study compared the phosphorylation rate of 3'-azidothymidine (AZT) in isolated maternal and fetal peripheral blood mononuclear cells (PBMCs) with that in amniocytes obtained during gestation and at term. Maternal PBMCs were isolated from venous blood samples obtained from HIV-seronegative pregnant women during delivery. Immediately afte...
An 8.5-year-old girl with a pathogenic mutation (515insC) of the ATP-binding cassette, subfamily D, member 1 gene (ABCD1) on her maternally derived X chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27...
N-Methanocarbathymidine [(N)-MCT], a thymidine analogue incorporating a pseudosugar with a fixed Northern conformation, exhibits antiherpetic activity against both herpes simplex virus (HSV) HSV-1 and HSV-2, with a potency greater than that of the reference standard, ganciclovir (GCV). In the present study, we have assessed the cytotoxic activity i...
N-methanocarbathymidine ((N)-MCT), a thymidine analog incorporating a pseudosugar with a fixed Northern conformation, exhibits potent antiherpetic activity against herpes simplex virus types 1 (HSV-1) and 2 (HSV-2). This study contrasts the metabolic pathway of (N)-MCT and the well-known antiherpetic agent ganciclovir (GCV) in HSV-1-infected and un...
We present our data concerning a single clone bearing chromosomal aberration obtained by routine amniocentesis in 2340 parturients. Single clone chromosomal aberrations in amniocytes were more commonly observed in chromosomes 8,18,21,22,X and as supernumeric marker chromosome. No correlation has been found between the incidental chromosomal changes...
A survey of the vectors of spotted fever group Rickettsiae and of murine typhus was carried out in Rahat, a Bedouin town in the Negev Desert, where the diseases are endemic. Houses with known cases of spotted fever group Rickettsiae or murine typhus were compared with those without reported clinical cases. A neighboring Jewish community, Lehavim, w...
Unless they undergo transplantation, all patients with chronic myeloid leukemia (CML) will eventually develop a late phase of acute blast crisis (ABC). Although additional chromosomal abnormalities to the Philadelphia (Ph) chromosome may herald ABC in many CML cases, the mechanisms leading to this fatal event are obscure. Viral etiology, including...
A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS...
Aging and Alzheimer's disease (AD) have been the subject of many studies. It has been suggested that chromosomal alterations may be involved in the etiology and/or pathogenesis of ageing and AD. The purpose of the present study was to examine the effect of diepoxybutane (DEB) on lymphocyte chromosomal instability in the elderly. We examined lymphoc...
A distinct form of aplasia cutis congenita presenting as linear facial skin defects has been described under a variety of names as Xp deletion syndrome. MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, MLS (microphthalmia and linear skin defects) and Gazali-Temple syndrome. The syndrome is lethal in males, and its severity in femal...
The replication of Chlamydia trachomatis serovar K was studied in human peripheral blood monocytes (PBMo). The intracellular fate of the bacteria was examined by determining the presence of chlamydial major outer-membrane protein (MOMP), lipopolysaccharide (LPS) and ribosomal RNA (rRNA). In-vitro infection of PBMo with C. trachomatis serovar K was...
An outbreak of spotted fever group rickettsiae (SFGR) was investigated by studying free-living and parasitic stages of ticks in two settlements of equal size and population located 20 km apart in the Negev Desert. Although high morbidity from SFGR was found in one of the settlements (Kibbutz Ze'elim), no clinical cases were observed in the second (...
In this study levels of prostaglandin E(2) (PGE(2)), tumour necrosis factor (TNF) and interleukin-1 (IL-1) alpha in medium from monocyte derived macrophages (MdM) infected with Chlamydia trachomatis (L(2)/434/Bu or K biovars). TNF and PGE(2) were found in both cases while IL-1 alpha was not detected. Both TNF and PGE(2) levels were higher in the me...
The genomes of spotted fever group rickettsiae isolated in different geographical areas of Israel (two from ticks and four from humans, obtained over a span of 20 years) were studied by polymerase chain reaction (PCR) and restriction endonuclease fragment length polymorphism (RFLP) analysis. The human isolates were obtained from patients suffering...
The Western-blot technique (WB) was used to determine which polypeptides of Israeli spotted fever (ISF) isolates and other spotted fever group rickettssia (SFGR) reference isolates (G212, S484, A828) and two reference strains. R. Rickettsii (Sheila Smith strain) and R. conorii (Boutonneuse fever), were used as antigen sources for the WB. Immunopero...
We examined whether monocyte-derived macrophages (MdM) incubated with rickettsia-infected HEp-2 or BGM cells a) affect R. conorii (Boutonneuse fever) growth, and b) secrete TNF and IL-1 alpha. BGM and HEp-2 cells were infected with R. conorii at multiplicities of infection (MOI) of 1-0.01. After 2 hr of adsorption, the cells were washed and MdM wer...
In an attempt to characterize the nature of symptomatic versus asymptomatic spotted fever group rickettsia (SFGR) infection, the immune response to R. conorii (boutonneuse fever) structural polypeptides was studied by Western-blot immunoassay. Sera from immunoperoxidase assay (IPA), SFGR seropositive (titre greater than or equal to 80) individuals,...
In vitro models of Chlamydia trachomatis inhibition by cytokines, human-monocyte derived macrophages (HMDM) and human polymorphonuclear leukocytes (HPMN) are discussed in an attempt to delineate the molecular basis of parasite-host cell interplay in persistent and chronic chlamydial infection. Interferon gamma (IFN) has been found to reversibly inh...
Purified human recombinant tumor necrosis factor alpha (rTNF-alpha) inhibited the growth of Rickettsia conorii (Casablanca strain) in HEp-2 cell culture. The effect was observed when the cells were pretreated with rTNF-alpha or when rTNF-alpha was added after adsorption of the rickettsiae. The inhibitory effect of rTNF-alpha on rickettsial growth w...
Infection of macrophages by intracellular parasites might modulate production of tumor necrosis factor (TNF) and prostaglandin E2 (PGE2), which, in turn, might have a profound effect on the outcome of the infection in vivo. In this study we examined in an in vitro system, the rickettsial yield in human monocyte-derived macrophages (MdM) and the PGE...
Citations
... Following that, a flow-cytometric sorting apparatus isolates the mitotic fraction from a large population of cells, in a few minutes. These mitotic cells are then spread onto a slide and treated with our C-Banding procedure [Gonen et al. 2022], to visualize the centromeres with DAPI. This reduces the chemical processing time to~2 h. ...
... In FMR1 normal-sized alleles (5 to 44 CGGs), the repetitive region is usually interrupted by one or more AGGs, typically occurring at every 9 th or 10 th CGG [8]. Premutation alleles are predominantly composed of pure CGGs; loss of AGG interruption(s) has been linked to the instability of the repetitive region and the increased risk of expansion [3,[9][10][11][12][13]. A formula integrating the total repeat length, and the number and pattern of the AGGs was developed to calculate FMR1 allelic score [14]. ...
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... In almost all of the patients, hypotonia was evident in their neonatal period. In addition, symptoms such as hypertrophic cardiomyopathy, dysmorphism, lactic acidosis, 3-methylglutaconic aciduria, motor/mental retardation, and brain magnetic resonance imaging abnormalities were also observed frequently (Staretz-Chacham et al. 2019;Cízková et al. 2008;Spiegel et al. 2011). In nuclear type 3 (MC5DN3), the causative gene is the ATP5E gene localized on chromosome 20q13. ...
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... As we showed previously, deletion mutations may be overlooked with WES. 19 The infantile myopia in the proband resulted from compound heterozygosity of two novel RBP3 mutations. Vision in all vertebrates is dependent on exchange of retinoids between the retinal pigment epithelium and the visual photoreceptors. ...
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... It has been shown that women with a certain premutation through families with FXS have a POI rate of up to 23% and, as a group, experience a previous menopause in approximately 5 years. 17 Currently, there is no consensus on estimating the absolute risk of POI when a woman has normal or high intermediate repetition alleles. Several studies have been estimated at between 15% and 27% in premutation carriers, compared to a background risk of 1%. ...
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... A number of vascular calcification investigations have involved studies of the ENPP1 gene. Loss-of-function mutations in the ENPP1 gene, which encodes ENPP1, also known as plasma cell membrane glycoprotein 1 (PC-1), have been associated with rare human genetic disorders [132][133][134][135] . Mutations of this gene are linked with a genetic deficiency in pyrophosphate levels causing a life-threatening disorder known as Generalized Arterial Calcification of Infancy (GACI), a rare autosomal recessive disease characterized by arterial calcification, fibrosis and stenosis, which leads to premature death in neonates 84,93,132,134,136,137 . ...
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... This population is leading a semi nomadic lifestyle, while approximately half of them lives in temporary tents or shacks, frequently using open fire for cooking or heating. The majority of the male population is smoking 12,16,17 . This way of life coupled with low socioeconomic status makes the Arab-Bedouin minority potentially susceptible to pollution and possibly contributes to the high morbidity rates 18,19 . ...
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... Extravasation mucocele, which affects small salivary glands, is brought on by fluid oozing from the compromised salivary gland ducts and acini into the nearby soft tissues. Three stages of evolution are present in these extravasation mucoceles [2]. The mucus diffusely leaks into the connective tissues from the excretory duct in the initial stage. ...
... Immunohistochemical investigations can help resolving the conflicts of overlapping features of SCL with other lesions ( cle actin (SMA), Factor VIII, Cytokeratin (CK), and S-100 which eliminates the evidence of the muscular, neurogenic or endothelial origin of spindle cells found in SCL and helps to distinguish it from other neural, muscular and vascular tumours (35,43). Ki67 expression is found to be very low in SCL which helps to distinguish it from malignant neoplasm like Liposarcoma in which tumour cells show a high proliferative index of Ki67 (44). ...
... Several previous studies have reported local groundwater pollution in the Abidjan district, with high levels of aluminium, nitrate and ammonium [4][5][6][7][8][9]. It is important to nofe that the high levels of aluminium in the human body can have adverse effects on our bones [10,11], kidneys [11], reproduction and development [12][13][14]. Nitrogen compounds can cause diseases such as methaemoglobinaemia when they are present in large quantities in the human body [15]. It is therefore necessary to monitor the levels of aluminium, nitrate and ammonium in drinking water in order to control health risks. ...
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