Detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis

Introduction: Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persistent scales resulting from abnormal epidermal differentiation or metabolism. Ichthyosiform dermatoses are classified into four major types, ichthyosis vulgaris, X-Linked ichthyosis, congenital recessive ichthyosis and lastly epidermolytic hypekeratosis which was previously called bullous ichthyosiform erythroderma. The identification of steroid sulfatase as the cause of X-Linked ichthyosis points to the importance of this enzyme in skin desquamation. Fluorescent in situ hybridization (FISH) analysis is a good diagnostic technique to detect a common deletion of the STS gene. Most patients with X-Linked ichthyosis have large deletions of the STS locus. Aim of the work: In this study, we aimed to detect the X-Linked type of ichthyosis, diagnosed by detection of STS gene deletions among Egyptian males. Patients and Methods: We performed this study on Egyptian males complaining of X-linked ichthyosis who were subjected to clinical examination, pedigree analysis of the family, cytogenetic studies using G-banding technique and fluorescent in situ hybridization (FISH) using locus specific probe for stereoid sulfatase (STS) gene which is located at chromosome Xp22.3. Our results showed that 11.11% of patients had nocturnal enuresis and 33.33% showed STS gene deletion by FISH study. Conclusion: The current study underlines the difficulty of diagnosis of X-Linked ichthyosis on the clinical features or pedigree analysis of the family in Egypt and the importance of cytogenetic and molecular cytogenetic studies for diagnosis. Fluorescent in situ hybridization (FISH) technique is a good, reliable, and rapid diagnostic tool to detect STS gene deletion. Since FISH will not detect partial deletion or point mutations, we recommended further molecular studies to reach the proper diagnosis of X-linked ichthyosis. Keywords: Ichthyosis- X-Linked, gene deletion, fluorescence in situ hybridizationyword Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 209-21

Faecal Contamination of Feeding Bottles Contents, Among Artificially Fed Children

This study was carried out to investigate the bacterial contamination of feeding bottles contents in artificially fed children presenting with diarrhoea at the Paediatric outpatient clinic in Khartoum Hospital.Methods: Hundred bottle fed infants presenting with diarrhoea were included in the study. Specimens were collected from the contents of the feeding bottles and the faeces of children.Results: Hundred and ten bacterial species were isolated from the contents. E. coli was the commonest isolate [33 (30%)]. Different other bacterial species were also isolated with very high count (1X106 - > 15X105/ml). Twenty one enteric pathogens were isolated from the stool specimens [Enteropathogenic E. coli (7) and Shigella species (14)]. The antibiotic sensitivity of the E. coli and Shigella species showed high resistance to co-trimoxazole (57.5%, 53.3% respectively) and to coamoxiclav (85% - 53.3% respectively).Conclusion: Awareness to the hazards of the feeding bottles among the community should be raised and breast feeding should be encouraged.Key words: diarrhea, enteric pathogens, E. coli

Solar photocatalytic degradation of 4-chlorophenol: Mechanism and kinetic modelling

The present study reports a mechanism and kinetic model of solar photocatalytic degradation of 4-chlorophenol (4-CP) and its intermediates based on the experimental results. Three intermediate compounds hydroquinone (HQ), 4-chlorocatechol (4cCat) and phenol were found during the solar degradation of different 4-CP concentrations using 0.5 g/L TiO2 as a photocatalyst. In order to obtain more details about the photocatalytic reaction pathway and the kinetic model, set of experiments were carried out using the major intermediates (HQ and 4cCat) as model reactants. To minimise the number of variables and give more accuracy to the kinetic model, the adsorption constants of 4-CPand its intermediates were obtained experimentally. The reaction mechanism for the photocatalytic degradation of 4-CP is proposed. The proposed model predicts well the concentrations of 4-CP and its by-products during the solar photocatalytic degradation at different initial concentrations. The model provides a very good fit of the experimental data and works for a wide range of 4-CP initial concentrations (25–100 mg/L)

The preparation of 6x His-tagged granulocyte colony stimulating factor using an improved in vitro expression

An improved in vitro expression system called the rapid translation system (RTS) was used in this study for the in vitro biosynthesis of 6x His tagged granulocyte colony stimulating factor (6x His-tagged granulocyte colony-stimulating factor (GCSF)). This was done to overcome the problems associated with traditional cell based biotechnology. The study involved the preparation of template DNA for cell-free protein synthesis through gene amplification of open reading frame (ORF) of hGCSFb, cloning in pIVEX 2.4d vector and transformation of the produced construct in chemically competent Escherichia coli DH 5 α cells. A cell free protein synthesis system, RTS 100 E. coli HY kit, was tested for 6x His tagged G-CSF protein synthesis. Protein purification was done using Ni-NTA chromatography. Protein production was detected by two methods electrophoretically by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and immunologically by dot blotting immunodetection. The use of these methods yielded purified 6xHis-tagged GCSF with a concentration of about 250 μg/ml RTSreaction.Keywords: Granulocyte colony stimulating factor, in vitro expression system, RTS system

Developmental abnormalities of mid and hindbrain: A study of 23 Egyptian patients

Introduction: With the advent of neuroimaging modalities specifically, magnetic resonance imaging (MRI), recognition of developmental defects of posterior fossa has greatly improved. The Aim: Is to delineate the clinical, cytogenetics and radiological features of patients with mid-hindbrain anomalies. Patient and Methods: Twenty-three patients with mid-hind brain malformations were included in this study. Complete clinical evaluation, cytogenetic analysis and neuroradiological study were done for each patient. Patients\' sex ratio was (M: F/ 0.9:1) and the mean age was 2.17 years. Parental consanguinity was 86.9 % and positive family history was recorded in 7 families. Based on clinico-radiological findings, patients were categorized as Joubert syndrome and related cerebellar disorders (34.8%), pontocerebellar hypoplasia (26.1%), lissencephaly cerebellar hypoplasia (13%), isolated cobblestone lissencephaly with normal muscle and eye (8.7%), isolated vermian hypoplasia (13%) and retrocerebellar cyst (4.4%). Results: Cytogenetic analysis revealed abnormalities in 3 patients (13%); pericentric inversion of chromosome 8 in a patient with lissencephaly cerebellar hypoplasia, del 5p14.3-pter delineating Cri du chat syndrome and associated with vermian hypoplasia and del 18q21.1-qter in a patient with retrocerebellar cyst due to paternal balanced translocation t (4;18). FISH for specific locus and whole chromosomal painting were used to document the assigned aberrations. Although most of the cerebellar malformations are of Mendelian inheritance, this study emphasizes the importance of chromosomal analysis for patients with posterior fossa anomalies. With more researches describing clinico-radiological characterization of hind brain dysgenesis will allow better understanding of these disorders, further delineation of relevant syndromes and new genes identification. Keywords: Cerebellar, hindbrain, joubert syndrome, cobblestone lissencephalypontocerebellar hypoplasia, cri du chat syndrome- del 18q21.1-qterEgyptian Journal of Medical Human Genetics Vol. 9 (2) 2008: pp. 215-23

Bubble stabilisation improves strength of lightweight mortars

Lightweight foamed mortars are produced through the addition of foaming agents into the cement blend, so that voids of different sizes are formed within the matrix, reducing the density of the material and therefore also its weight. However, the increased porosity of these materials usually compromises their mechanical strength, limiting their application as a structural material. Modern infrastructure demands high-strength lightweight concrete formulations that can be adjusted to develop more ambitious projects, both in design and application. In this study, lightweight pastes and mortars were produced using Portland cement blended with fly ash and silica fume, with varying water contents, and foamed using aluminium metal powder. To stabilise the bubbles produced through oxidation of the aluminium metal, polyethylene glycol was added to the mixes, and proved effective in yielding more uniform bubbles than were observed in the samples with no added stabiliser. This led to improvements in both the bulk density and compressive strength of the materials produced according to this new methodology

Craniopharyngioma in children: trends from a third consecutive single-center cohort study

OBJECTIVE: The management of children with craniopharyngioma has evolved over time, with a trend toward less invasive neurosurgical approaches as surgeons have sought to balance oncological control and treatment-related morbidity. To this end, the aim of this study was to evaluate the safety and effectiveness of the current management of children with craniopharyngioma compared to the previous management methods used at the authors’ treatment center. METHODS: A prospectively maintained database was searched over a 14-year period between January 1, 2005, and December 31, 2018, to identify all children 17 years of age or younger with a new diagnosis of craniopharyngioma. A retrospective case note review was performed for each child to extract data on the presentation, investigation, treatment, and outcome of their illness. Morbidity was assessed in the same fashion as in previous cohorts, according to the following categories: visual loss, pituitary dysfunction, hypothalamic dysfunction, neurological deficits, and cognitive impairment. RESULTS: In total, 59 children were identified with craniopharyngioma during the study period. A total of 92 operations were performed, including cyst drainage (35/92; 38.0%), craniotomy and resection (30/92; 32.6%), and transsphenoidal resection (16/92; 17.4%). Approximately two-thirds of all operations were performed using image guidance (66/92; 71.7%) and one-third were performed using endoscopy (27/92; 29.3%). The majority of children had adjuvant therapy comprising proton beam therapy (18/59; 30.5%) or conventional radiotherapy (16/59; 27.1%). The median follow-up duration was 44 months (range 1–142 months), and approximately one-half of the children had no evidence of residual disease on MRI studies (28/59; 47.5%). Of the remaining 31 children, there was a reduction in the volume of residual disease in 8 patients (8/59; 13.6%), stable residual disease in 18 (18/59; 30.5%), and tumor growth in 5 patients (5/59; 8.5%). There was significantly reduced morbidity (p < 0.05) in all categories in the current cohort compared with our last cohort (1996–2004). CONCLUSIONS: The authors’ institutional experience of pediatric craniopharyngioma confirms a trend toward less invasive neurosurgical procedures, most of which are now performed with the benefit of image guidance or endoscopy. Moreover, the authors have identified an expanding role for more targeted radiotherapy for children with residual disease. These advances have allowed for tumor control comparable to that achieved in previous cohorts, but with significantly reduced morbidity and mortality

The patterns of clinical presentations of cerebellar syndromes among adult Sudanese patients

Cerebellar syndromes are one of the commonest neurological diseases.Objectives: To study the patterns of clinical presentations of cerebellar syndromes and to identify the possible causes.Methods: This is a prospective hospital based, cross-sectional study. One hundred adult Sudanese patients with cerebellar syndromes were included in the study during the period from January 2006– January 2007.Results: The most common age group affected was 18 – 25 years. Male to female ratio was 1.5: 1 unsteadiness on walking was the most common symptom (83%). Gait-ataxia was the most common sign (83%). Cerebrovascular disease was the most common aetiology (25%).Conclusion: Cerebellar syndromes are not rare in Sudan. However, they were diagnosed more commonly at the central regions of the country probably because of more awareness of patients and better facilitiesfor diagnosis. The age of onset, the male predominance, the presentation and clinical findings were not different from reported literature. This also goes for the common causes apart from alcohol which is a strikingly rare as a cause in this study and could be accounted for the implementation of Elshariya (Islamic laws) Laws in Sudan.Keywords: ataxia, dysmetria, disdiadochokenesis, decomposition, nystagmus, dysarthria

Imprint cytology of osteosarcoma of the jaw: a case report

Introduction. Osteosarcomas are highly malignant bone-forming neoplasms that account for about 20% of all sarcomas. In light of their aggressive behavior, early diagnosis is crucial for determining adequate treatment. Dental professionals may be the first to detect jaw osteosarcomas in their initial stages. The aim of this case report is to draw attention to the possibility of diagnosing this tumor based on clinical, radiographical and cytological characteristics before confirmation by histology. Case presentation. A 24-year-old Afro-Brazilian man presented with swelling and pain on the left side of the mandible in the region of the third molar (tooth 38). Radiography showed a poorly delimited intraosseous lesion with radiolucent and radiopaque areas. The cytological aspects were consistent with the diagnosis of osteosarcoma, which was confirmed by biopsy. Conclusion. Imprint cytology was found to be a reliable, rapid and easy complementary examination. An early diagnosis of osteosarcoma of the jaw is fundamental to the early determination of an adequate treatment. © 2009 Cabral et al; licensee BioMed Central Ltd