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1.
J Matern Fetal Neonatal Med ; 33(10): 1631-1637, 2020 05.
Article in English | MEDLINE | ID: mdl-30345864

ABSTRACT

Background: Severe intrauterine growth restriction complicates approximately 0.4% of the pregnancies. It increases the risk of perinatal morbidity and mortality.Subjects and methods: A double blind placebo controlled trial was conducted in Beni Suef University hospitals during 2017. It included 46 pregnant women with severe intrauterine growth restriction. Women were randomly allocated into two groups each included 23 patients. Intervention group received sildenafil citrate 20 mg orally three times a day, in addition to fish oil and zinc supplementation. Control group received tablets similar to sildenafil and the same treatment as intervention group. Primary outcomes included improvement in umbilical and middle cerebral arteries pulsatility indices and abdominal circumference.Results: Umbilical and middle cerebral arteries Doppler indices showed significant difference between groups after intake of sildenafil. Umbilical artery pulsatility index decreased significantly (p value = .001) while middle cerebral artery pulsatility index increased significantly in intervention group (p value0.001). Moreover, abdominal circumference growth velocity improved after two weeks of sildenafil intake (p value = .001).Conclusions: Sildenafil citrate may improve uteroplacental and fetal cerebral perfusion in pregnancies complicated by severe intrauterine growth restriction. It also improves abdominal circumference growth velocity. A wide scale randomized trials are needed for evaluation of neonatal and long term morbidity and mortality outcomes of pregnancies treated by sildenafil citrate.


Subject(s)
Fetal Growth Retardation/drug therapy , Sildenafil Citrate/administration & dosage , Vasodilator Agents/administration & dosage , Administration, Oral , Adult , Birth Weight , Double-Blind Method , Egypt , Female , Fish Oils/therapeutic use , Humans , Infant, Newborn , Middle Cerebral Artery/diagnostic imaging , Middle Cerebral Artery/drug effects , Placenta/blood supply , Placenta/drug effects , Pregnancy , Pulsatile Flow , Sildenafil Citrate/adverse effects , Ultrasonography, Prenatal , Umbilical Arteries/diagnostic imaging , Umbilical Arteries/drug effects , Vasodilator Agents/adverse effects , Zinc/administration & dosage
2.
Genet Couns ; 27(3): 305-323, 2016.
Article in English | MEDLINE | ID: mdl-30204960

ABSTRACT

The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. Among over 150 reported international cases, 16 cases are Egyptian including the presently reported patients. The current study reports 8 new Egyptian patients from 7 unrelated consanguineous families investigating clinical phenotype as well as cytogenetic changes in all cases and mutational spectrum in 4 cases. Clinical, orodental, cytogenetic and molecular studies were done to investigate genotype/phenotype correlation. Evaluation of the studied 8 patients showed that they all exhibited the main limb and craniofacial features of Roberts syndrome. Cytogenetic studies including centromeric separation and puffing by Giemsa and DAPI stains and for the first time in Egypt analysis for premature centromeric division by FISH showed consistent centromeric separation in all studied cases. Molecular studies of 4 available patients showed that they all have ESCO2 gene mutation. We conclude that RBS has a well-defined clinical spectrum. The cytogenetic changes are due to sister chromatid cohesion defects which lead to mitotic dysfunction. We confirmed previous results of lack of genotype/phenotype correlation. We also confirmed that the severity of limb malformation correlates with craniofacial manifestations. We recommend detailed evaluation of orodental changes for further definition of the phenotype and for proper patient management. We emphasize the need for further studies for the frequency of premature centromeric separation by FISH as a possible indicator of phenotypic severity.


Subject(s)
Craniofacial Abnormalities/genetics , Ectromelia/genetics , Genotype , Hypertelorism/genetics , Phenotype , Acetyltransferases/genetics , Centromere/genetics , Child, Preschool , Chromosomal Proteins, Non-Histone/genetics , Chromosome Aberrations , Consanguinity , Craniofacial Abnormalities/diagnosis , Cytogenetic Analysis , DNA Mutational Analysis , Ectromelia/diagnosis , Egypt , Exons/genetics , Female , Genes, Recessive/genetics , Humans , Hypertelorism/diagnosis , In Situ Hybridization, Fluorescence , Infant , Limb Deformities, Congenital/genetics , Male , Polymerase Chain Reaction , Statistics as Topic
3.
Acta Biol Hung ; 66(4): 419-35, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26616374

ABSTRACT

Two broad bean cultivars (Vicia faba CV Nobaria3 and Vicia faba CV Sakha3) were obtained from Mallwi Agriculture Research Center, El Minia Governorate, Egypt. The seeds were divided into two groups, the first group soaked with distilled water, while the second group were soaked with 3 mM KNO3, respectively, for 4 hours. Seeds were sown and left to grow for 3 weeks then treated with different concentrations of NaCl (0.0, 40, 80, 120 and 160 mM) by top irrigation, then they left to grow further for 65 days from sowing. Plant samples were collected for some measurements: leaf area, plant height, root length, fresh and dry weight, photosynthetic pigments, carotenoids, soluble sugars, soluble proteins, total free amino acids, esterase enzyme, as well as MDA (malondialdehyde) content. Salinity reduced both fresh and dry weight in two broad bean cultivars, this reduction were more pronounced in Sakha3 than Nobaria3. Seed pre-soaking with KNO3resulted in enhancement of fresh and dry weight production in both cultivars especially at 40 mM NaCl. Photosynthetic pigments were substantially affected by salt treatment while the carotenoids were increased, seed pre-soaking with KNO3improved these components. The soluble sugars, amino acids as well as soluble proteins showed various responses with increasing salinity in the cultivars, seed pre-soaking with KNO3has improved these parameters to some extent. The shoots of two cultivars exhibited significant accumulation of MDA, compared to roots exposed to the highest salinity levels. Pre-soaking seeds with KNO3did not improve MDA in shoots but enhanced it in roots, however, in most cases still lower than the absolute control. The assessment of the esterase isozyme profiles on 7.5% native polyacrylamide gel revealed the presence of 13 isoforms in two faba bean plants in response to KNO3pre-soaking and treatments with different concentrations of NaCl.


Subject(s)
Esterases/metabolism , Lipid Peroxidation , Nitrates/chemistry , Potassium Compounds/chemistry , Vicia faba/physiology , Salinity , Seeds/physiology , Sodium Chloride/chemistry
4.
Haemophilia ; 14(5): 1082-7, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18547262

ABSTRACT

Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The aim was to investigate the usefulness of two DNA markers in linkage analysis, one intragenic BCL1 affecting restriction site in intron 18, and is detected as restriction fragment length polymorphism (RFLP), and one extragenic variable number of tandem repeat (VNTR) locus DXS52 (St14) to formulate an informative and accurate carrier detection and prenatal diagnosis. The study included 46 families with at least one child affected with haemophilia A, and 30 unrelated normal females as control group. Polymerase chain reaction (PCR) and restriction enzyme analysis were used to study the polymorphism in BCL1, and long-distance PCR for detection of VNTR (ST14) alleles. The incidence of BCL1 (+) allele was 74%, 72% and 60% in patients, mothers and control group, respectively. Expected heterozygosity for BCL1 was 40% in mothers of affected cases compared with 48% in the female control group. However, observed heterozygosity was found to be 48% in the mothers of affected cases, compared with 60% in the control group. Thus, 48% of the studied families are informative for this marker alone. Nine different alleles of VNTR (St14) were observed in mothers and six alleles in affected cases and six in the control group. The most prevalent alleles were 1300 bp (45.5% and 34%) and 700 bp (13.6% and 20%) in patients and their mothers, respectively. Observed heterozygosity in mothers was 41% compared with 43.3% in controls. The combined use of both BCL1 and St14 markers raised the informative rate to 63.6%. Carrier detection and prenatal diagnosis is possible in haemophilia A families using both DNA markers. We suggest screening haemophilic families first for BCL1 polymorphism followed by analysis of St14 locus.


Subject(s)
Fetal Diseases/diagnosis , Genetic Carrier Screening/methods , Genetic Markers/genetics , Hemophilia A/diagnosis , Prenatal Diagnosis/methods , Factor VIII/genetics , Female , Genetic Linkage , Humans , Male , Minisatellite Repeats , Pregnancy
5.
6.
Urology ; 66(1): 195, 2005 Jul.
Article in English | MEDLINE | ID: mdl-16014287

ABSTRACT

We report a rare case of Wegener's granulomatosis involving the prostate in a 28-year-old man. The initial medical treatment was effective, but surgical intervention was required to manage late complications.


Subject(s)
Granulomatosis with Polyangiitis/complications , Prostatic Diseases/etiology , Adult , Humans , Male , Prostatic Diseases/surgery
7.
Lancet ; 365(9474): 1876, 2005.
Article in English | MEDLINE | ID: mdl-15924985
8.
J Clin Pathol ; 58(4): 434-6, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15790715

ABSTRACT

This report describes two cases of segmental pulmonary vein occlusion secondary to lung malignancy in which lung biopsies showed histological features of veno-occlusive disease. These are the first cases to be reported in the literature in which such lung parenchymal histological changes are described in association with lung malignancy.


Subject(s)
Carcinoma, Squamous Cell/complications , Leiomyosarcoma/complications , Lung Neoplasms/complications , Pulmonary Veno-Occlusive Disease/etiology , Adult , Carcinoma, Squamous Cell/pathology , Fatal Outcome , Female , Humans , Leiomyosarcoma/pathology , Lung Neoplasms/pathology , Middle Aged , Pulmonary Veins/pathology , Pulmonary Veno-Occlusive Disease/pathology , Tomography, X-Ray Computed/methods
10.
Prim Care Respir J ; 14(1): 51-5, 2005 Feb.
Article in English | MEDLINE | ID: mdl-16701694

ABSTRACT

There had been a continuous decline in Mycobacterium tuberculosis infection (TB) during the last century until the trend plateaued in the mid-1980's and started to increase in the early 1990's in the United Kingdom (UK). In England and Wales the incidence of TB has increased by 11% between 1993 and 1998 with an overall incidence equal to 10.9/100,000 population. In the South West (SW) of England the incidence of TB is less than the UK average (4.6/100,000). We report an outbreak of TB in the SW of England which was based around a local public house. Sixteen patients received treatment and thirteen received chemo-prophylaxis. Using a rapid IS6 110- based PCR and Restricted Fragment Length Polymorphism Method, all mycobacteria isolated were shown to be identical, and all cultures were sensitive to the usual anti-mycobacterial drugs. All patients were white Caucasians and none were from high risk groups. Despite the absence of conventional close household contacts a significant number of secondary cases were detected. Possible links between TB cases should be considered even in areas of low prevalence.

11.
Palliat Med ; 18(7): 626-9, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15540671

ABSTRACT

UNLABELLED: One hundred clinically stable outpatients with chronic obstructive pulmonary disease were surveyed at home by respiratory nurse specialists (RNS) about their views towards cardiopulmonary resuscitation (CPR) and in hospital ventilation. Written information about COPD, CPR and ventilation was provided and consent obtained. The breathing problem-based quality-of-life questionnaire (BP-QoL) was completed. The following information was recorded: age, sex, spirometry, hospital admissions, and antidepressant and oxygen usage in the previous year. Patients were then asked to imagine a scenario in which they were admitted to hospital and their chest condition deteriorated in spite of standard treatment. 'Having reached that stage would you wish to have noninvasive ventilation (NIV), invasive ventilation (IV) or CPR?' Three months later patients were asked to complete a postal patient satisfaction questionnaire. RESULTS: Of 100 patients 41 were male and the mean age was 74.1 years. Fifty four patients had a FEV1 <40% and 37 had a FEV1 between 40 and 59% predicted. Twenty-four patients were on long-term oxygen therapy, eight had taken antidepressants and 56 had been admitted to hospital in the previous year. Forty-eight patients wanted all additional treatments to be attempted if needed and 12 wanted none. Nineteen patients said 'no' for CPR and 10 said 'no' for CPR and IV. There was no significant statistical difference between the groups answering 'yes' or 'no'. Seventy-six per cent of patient satisfaction questionnaires were returned. All patients were satisfied with the way they had been approached and the information received, and 98% of them thought that this issue should be discussed with all patients. CONCLUSION: Attitudes towards resuscitation can be discussed with COPD patients by RNS without causing distress. Attitudes to resuscitation could not be predicted from parameters of respiratory disease severity or age.


Subject(s)
Attitude to Health , Cardiopulmonary Resuscitation/psychology , Pulmonary Disease, Chronic Obstructive/psychology , Respiration, Artificial/psychology , Aged , Aged, 80 and over , Female , Forced Expiratory Volume , Health Surveys , Humans , Male , Middle Aged , Patient Satisfaction , Pulmonary Disease, Chronic Obstructive/physiopathology , Pulmonary Disease, Chronic Obstructive/therapy , Quality of Life , Vital Capacity
12.
Respir Med ; 96(4): 259-61, 2002 Apr.
Article in English | MEDLINE | ID: mdl-12000005

ABSTRACT

The combination of cytological and histological techniques has significantly increased the accuracy of fibreoptic bronchoscopy (FOB) in the diagnosis of lung cancer. We tested the hypothesis that cytological examination of material obtained from the whole endobronchial brush might increase the diagnostic yield in patients where conventional brush specimens were negative. Fifty patients who had undergone FOB for suspected lung cancer were studied prospectively. Bronchial lavage, bronchial biopsy and conventional brushing were performed. The whole endobronchial brush was then cut off the end of its wire and transported in a universal pot containing Shandon cytospin collection fluid. The material was dislodged from the whole brush using a vortex and the remaining fluid was centrifuged at 2,000 r.p.m. The fluid concentrate was used to maketwo cytopsin preparations. Papanicolaou stain was used. Fifty patients were studied, of which thirty-nine (78%) had endoscopicaly visible tumour. Of those, bronchial biopsy conventional brushing lavage and whole brush were positive for malignant cells in 31 (79.4%), 29 (74.3%), 21 (53.8%), and 16 (41%) of cases, respectively. A diagnosis of lung cancer was confirmed in 35 (89.7%) cases of endoscopicaly visible tumour. Conventional brushing was positive in two out of 11 (18.2%) cases with no visible tumour. Whole brush analysis was not positive in any of the cases with negative conventional brushings and was the least sensitive test in detecting malignancy Whole endobronchial brush analysis has no advantage in bronchoscopic diagnosis of patients with suspected lung cancer.


Subject(s)
Lung Neoplasms/pathology , Lung/pathology , Biopsy , Bronchoalveolar Lavage Fluid/cytology , Bronchoscopy , Fiber Optic Technology , Humans , Predictive Value of Tests , Prospective Studies
13.
Article in English | MEDLINE | ID: mdl-8322459

ABSTRACT

Primary extraskeletal epithelial neoplasms with osteoclast-like giant cells are rare. We describe a case of renal cell carcinoma with a sarcomatoid component and non-neoplastic osteoclast-like giant cells. The giant cells were noted in both the conventional and the sarcomatoid components of the neoplasm. Immunohistochemical studies indicate that these cells are monocyte/histiocyte in origin and most probably a host stromal reaction to the neoplasm.


Subject(s)
Carcinoma, Renal Cell/pathology , Giant Cells/pathology , Kidney Neoplasms/pathology , Osteoclasts/pathology , Aged , Carcinoma, Renal Cell/chemistry , Female , Humans , Intermediate Filament Proteins/analysis , Kidney Neoplasms/chemistry
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