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1.
Indian Heart J ; 2022 Jun; 74(3): 212-217
Article | IMSEAR | ID: sea-220897

RÉSUMÉ

Background: Atrial fibrillation is the most commonly encountered arrhythmia. Several antiarrhythmic agents are effective in restoring and maintaining sinus rhythm. Aim of the work: To compare the efficacy and rapidity of conversion of recent onset atrial fibrillation using oral propafenone versus intravenous infusion of amiodarone. Methods: The study included 200 patients with recent onset atrial fibrillation. Patients were equally divided into 2 groups; group A where intravenous infusion amiodarone was given and group B where oral propafenone was administrated. The effectiveness and the time needed for conversion of atrial fibrillation to sinus rhythm were compared in both groups. Results: The success of conversion of atrial fibrillation to sinus rhythm was 83% in group A and 85% in group B, p-value ¼ 0.699. The time elapsed from drug administration till conversion of atrial fibrillation was 9.07 ± 5.04 hours in group A versus 3.9 ± 1.54 hours in group B, p-value ¼ 0.001. In both groups, patients who showed failed conversion had a significantly larger left atrial diameter and a significantly higher high sensitivity C-reactive protein (hsCRP) level. Conclusion: Oral propafenone was faster than parenteral amiodarone in the conversion of recent onset atrial fibrillation to sinus rhythm. Patients with failed conversion had a bigger left atrial diameter and a higher hsCRP when compared to patients with successful conversion

2.
Article de Anglais | WPRIM | ID: wpr-926883

RÉSUMÉ

Although functional gastrointestinal disorders (FGIDs) are very common in pediatric patients, there is a scarcity of published epidemiologic data, characteristics, and management patterns from Saudi Arabia, which is the 2nd largest Arabic country in terms of area and the 6th largest Arabic country in terms of population, with 10% of its population aged <5 years. Functional constipation (FC) is an FGID that has shown a rising prevalence among Saudi infants and children in the last few years, which urges us to update our clinical practices. Nine pediatric consultants attended two advisory board meetings to discuss and address current challenges, provide solutions, and reach a Saudi national consensus for the management of pediatric constipation. The pediatric consultants agreed that pediatricians should pay attention to any alarming signs (red flags) found during history taking or physical examinations. They also agreed that the Rome IV criteria are the gold standard for the diagnosis of pediatric FC. Different therapeutic options are available for pediatric patients with FC. Dietary treatment is recommended for infants with constipation for up to six months of age. When non-pharmacological interventions fail to improve FC symptoms, pharmacological treatment with laxatives is indicated. First, the treatment is aimed at disimpaction to remove fecal masses. This is achieved by administering a high dose of oral polyethylene glycol (PEG) or lactulose for a few days. Subsequently, maintenance therapy with PEG should be initiated to prevent the re-accumulation of feces. In addition to PEG, several other options may be used, such as Mg-rich formulas or stimulant laxatives. However, rectal enemas and suppositories are usually reserved for cases that require acute pain relief. In contrast, infant formulas that contain prebiotics or probiotics have not been shown to be effective in infant constipation, while the use of partially hydrolyzed formula is inconclusive. These clinical practice recommendations are intended to be adopted by pediatricians and primary care physicians across Saudi Arabia.

3.
Egyptian Journal of Medical Human Genetics [The]. 2017; 18 (1): 67-73
de Anglais | IMEMR | ID: emr-189219

RÉSUMÉ

Background: Melanocortinergic system represents a known system involved in the central regulation of body weight with the central proopiomelanocortin [POMC] neurons forming a potent anorexigenic network. Polymorphisms in the POMC gene locus are associated with obesity phenotypes


Aim: To assess the contribution of the POMC gene 9-bp insertional polymorphism in the susceptibility to obesity and its relation to body mass index [BMI] and adiposity-related co-morbidities in obese children and adolescents; as well as binge eating behavior


Patients and methods: Fifty obese children and adolescents with simple obesity were screened for Binge Eating Disorder [BED] by The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition [DSM-5], they were compared to 50 age, sex and pubertal stage-matched non obese controls. Anthropometric measurements, blood pressure, abdominal ultrasound for fatty liver, measurement of fasting lipid profile, fasting insulin, fasting blood glucose and assessment of POMC gene 9-bp insertional polymorphism were done


Results: Obese patients had significantly higher anthropometric measurements, blood pressure percentiles, fasting glucose, fasting insulin, homeostasis model assessment for insulin resistance [HOMA-IR] and fasting lipid profiles, and higher frequency of occurrence of non alcoholic fatty liver disease and BED. Allelic frequencies of POMC gene 9 bp insertional polymorphism were comparable in patients and controls [p= 0.956]. Fasting insulin levels were significantly higher in the heterozygous cases having the polymorphism than in wild homozygous cases; whereas no difference was observed among the controls


Conclusion: This polymorphism was associated with higher fasting insulin levels in the obese patients only. These findings support the hypothesis that the melanocortin pathway may modulate glucose metabolism in obese subjects indicating a possible gene-environment interaction. POMC variant may be involved in the natural history of polygenic obesity, contributing to the link between type 2 diabetes and obesity


Sujet(s)
Humains , Mâle , Femelle , Enfant d'âge préscolaire , Enfant , Adolescent , Pro-opiomélanocortine/génétique , Polymorphisme génétique , Comportement alimentaire , Indice de masse corporelle , Adiposité , Enfant , Adolescent , Métabolisme , Études cas-témoins
4.
Bahrain Medical Bulletin. 2016; 38 (2): 122-124
de Anglais | IMEMR | ID: emr-178836

RÉSUMÉ

An arteriovenous fistula is the preferred vascular access for hemodialysis. Secondary thrombosis secondary to a venous stenosis is the most common complication seen with AV fistulas, and currently, percutaneous endovascular intervention [balloon angioplasty and stenting] is considered the treatment of choice for venous stenosis. Despite being less invasive than surgery, these interventions present a unique subset of potential complications with limited evidence available on optimal treatment


We report a case of migrated basilic vein stents in a seventeen-year-old male undergoing hemodialysis through a brachiobasilic AY fistula. The complication was treated by fixing the stents to the venous wall using non-absorbable sutures. The objective was to prevent further stent migration towards the heart and thus, steer away from a probable catastrophic event


Sujet(s)
Humains , Mâle , Adolescent , Dialyse rénale , Fistule , Fistule artérioveineuse
5.
Bahrain Medical Bulletin. 2016; 38 (4): 236-239
de Anglais | IMEMR | ID: emr-184275

RÉSUMÉ

A seventy-three-year-old female presented with acute left-lower limb ischemia associated with groin swelling, one year following the resolution of an infected left-Common Femoral Artery [CFA] Pseudoaneurysm. Ultrasound Scan of the left-groin revealed Common Femoral Artery Pseudoaneurysm. CT angiography confirmed the presence of the pseudoaneurysm with surrounding cystic swelling associated with multiple air pockets and inflammatory changes suggestive of infected pseudoaneurysm. The patient was started on broad-spectrum antibiotics and underwent a left ilio-popliteal [obturator] bypass in addition to debridement of left-groin infected pseudoaneurysm

6.
International Journal of Radiation Research. 2016; 14 (4): 373-377
de Anglais | IMEMR | ID: emr-187638

RÉSUMÉ

To assess the environmental radioactivity levels and hence to determine the population exposure in Kutubdia Island, Bangladesh the sediment samples were analyzed by using gamma ray spectrometry. In those sediment samples the average activity concentration of natural radionuclides [238]U, [232]Th and [40]K were found 15.39+/-1.67, 38.35+/-0.76 and 475.51+/-21.15 Bq/kg respectively. The activity concentration of [238]U and [232]Th were less than the world average. But the activity concentration of 40K was higher than the world average values. These results were used to calculate the radiological hazard parameters like radium equivalent activities [Ra[eq]], representative level index [I[gammar]]. Due to natural radionuclides in sediment, the effective annual outdoor dose in the study area was 0.07 mSv; which is within the accepted range of 0.07 mSv. The average value of radium equivalent activities [Ra[eq]] and representative level index [Igr] were found to be 128.03+/-12.08 Bq/Kg and 0.96+/-0.09 Bq/Kg which were greater than the world average. The anthropogenic radionuclide [137]Cs was also found in few samples. The average activity concentration of [137]Cs was 1.64+/-0.20 Bq/kg which is lower than the world average. The obtained experimental data of this research work would be useful to assess the population exposure from radionuclides in sediment as well as base line data of natural radioactivity in this island

7.
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (2): 165-172
de Anglais | IMEMR | ID: emr-180234

RÉSUMÉ

Background: Fragile X syndrome [FXS] is the most common form of inherited mental retardation. Frequency of fragile X syndrome among male siblings and relatives of mentally retarded patients is relatively high. Cytogenetic diagnosis of FXS is unreliable since it is ineffective for the diagnosis of premutated males or females. Proper molecular diagnosis is a pre-requisite for providing proper counseling advice


Subjects and methods: Sixty-four males with idiopathic mental retardation, ranging in age from 4.2 to 19 years [10.92+/- 4.00] were clinically pre-selected, based on scoring protocol comprising eight features of the syndrome, before molecular testing. A rapid polymerase chain reactionbased screening was applied for detection of expanded FMR1 alleles. Samples that did not yield the normal band lengths were subjected to a second PCR screen. The secondary screen utilizes a chimeric primer demonstrating the presence or absence of an expanded allele


Results: Amplification of FMRI gene by PCR of tested patients revealed that 8 cases [12.5%] have full mutation and 6 cases [9.4%] have premutation. A wide range of Fra X-scoring ranging from 1 to 7 features was detected in examined cases. Significant clinical features included large prominent ears, hyperextensibility of joints and macroorchidism in post pubertal males


Conclusions: A simplified checklist of fragile X should be used for patients with idiopathic MR and those patients above score 3 should be tested for FXS. The diagnostic assay may be used as a screening method for fragile X syndrome being rapid and cost effective compared to other techniques. In addition, screening of all relatives of proven patients should be performed to detect clinically unidentified cases for provision of proper counseling and optimal management of detected cases


Sujet(s)
Adolescent , Enfant , Enfant d'âge préscolaire , Humains , Mâle , Protéine du syndrome X fragile/génétique , Déficience intellectuelle/génétique , Chromosome X , Fragilité des chromosomes , Liaison génétique , Phénotype
8.
GJO-Gulf Journal of Oncology [The]. 2015; (18): 44-53
de Anglais | IMEMR | ID: emr-164608

RÉSUMÉ

Radical prostatectomy or radiotherapy has comparable results in the treatment of localized prostate cancer. High dose external irradiation entails a prolonged 7-8 weeks of treatment with significant inconvenience to elderly patients. Hypofractionated regimen in prostate cancer depends on the distinctive radiobiological properties of prostate cancer cells; their relative low alpha beta ratio compared to that for late-reacting rectal tissue allows for significant dose escalation per fraction without expected increase in late normal tissue reaction. Between July 2012 and December 2013, twenty patients were blindly randomized into two groups. The planning target volume in the study group received 65Gy to 67.5Gy/25 fractions over 5 weeks. The patients in the control arm received 74Gy to 78Gy in 2Gy/fraction. Cost-benefit was evaluated for both regimens. Both groups were comparable regarding risk factors, with no significant statistical differences. Four patients in the study group developed grade 2 urinary toxicity and one patient had grade 3 during treatment, At six months no patient had urinary symptoms, In the control arm 4 patients have grade 2 toxicity during treatment which disappeared at six months, The two groups showed no statistical difference in the mean quality of life. Serum PSA reached a nadir value of 0.02 and 0.04 in the study and control groups respectively at 3 month post-treatment. The cost of treatment for the study group was 25000 L.E, per patient compared to 40000 L.E. in the control group. The hypofractionated group consumed 31138 MU compared to 45611 MU for the control group with ap-valueof 0.015. Hypofractionated IMRT with concomitant boost for localized cancer prostate is a feasible option with lesser cost and comparable toxicities. Longer follow-up is required to assess the late effects before recommending it as a standard of care

9.
Hematology, Oncology and Stem Cell Therapy. 2015; 8 (2): 56-63
de Anglais | IMEMR | ID: emr-166931

RÉSUMÉ

14q32 rearrangement has been identified as a recurrent hotspot of translocations in multiple myeloma [MM]. The Fluorescence Immunophenotyping and Interphase Cytogenetics as a tool for the Investigation of Neoplasms [known as FICTION technique] for evaluation of chromosomal changes in MM. The aim of this work is to detect 14q32 rearrangement, using FICTION technique, on archival bone marrow [BM] slides of MM patients, and to study its prognostic value. This study was conducted at Ain Shams University Hospital. The FICTION technique, which uses CD138 and dual color, and the break-apart 14q32 rearrangement probe, was performed on archived smears of BM slides for 50 MM patients at the time of diagnosis. A significantly higher percentage of cases were positive for 14q32 rearrangement by FICTION [32%] compared to fluorescence in situ hybridization [FISH] [12%] [p = 0.04]. Cases positive by FICTION for the rearrangement were designated as Group A, while negative cases were designated as Group B. Significantly lower Hb and CRP levels were found among Group B when compared to Group A patients [p = 0.001 and 0.01, respectively]. Serum albumin level and Bence Jones protein [BJP] significantly affect overall survival [OS] [p = 0.01, 0.007, respectively]. However, a statistically non-significant shorter mean survival time was found in positive cases through FICTION versus negative cases. FICTION technique provides a sensitive tool for establishing clonal plasma cells [PC] infiltration of BM aspirates, and is amenable for use on archived as well as fresh smears

10.
Br J Med Med Res ; 2015; 7(3): 231-240
Article de Anglais | IMSEAR | ID: sea-180309

RÉSUMÉ

The eradication of H. pylori has become an important issue; since Helicobacter pylori infection can cause chronic gastritis, peptic ulcer, gastric cancer and (MALT) lymphoma. Standard triple therapy efficacy has decreased gradually worldwide during the last decade and quadruple therapy is recommended as an alternate treatment option for the management of H. pylori. The aim of this study was to compare between triple and quadruple therapy for eradication of H. pylori in Iraqi patients with peptic ulcer disease, and to treat the patients who relapsed after triple therapy. In addition to that; response to therapy (triple and quadruple) have been evaluated according to the Body Mass Index (BMI). A prospective case controlled study was carried on 60 patients who had peptic ulcer disease and positive H. pylori infection confirmed by (histology; stool antigen test and anti-H. pylori IgG antibody test) patients were divided into 3 groups first group involved 38 patients treated with triple therapy (500 mg clarithromycin capsules; 1 g amoxicillin capsules; and 20 mg esomeprazole capsules) for 14 days. The second group involved 22 patients treated with quadruple therapy (pylera)®; (140 mg bismuth sub citrate potassium, 125 mg metronidazole, and 125 mg tetracycline hydrochloride) for 10 days, while third group involved patients un responding to triple therapy treated with secondline quadruple therapy for 10 days. The results showed that the eradication rate of the per-protocol and intention-to-treat for quadruple therapy was 88.57%, 83.78% respectively which was more than 57.89% per-protocol and 50% intention-to-treat for standard triple therapy with high significant difference (p<0.01). Patients compliance with quadruple and triple therapy was good for the two regimens in spite of the more adverse effect of quadruple regimen compared to triple regimen. On conclusion; the 10 days treatment with quadruple therapy was more effective than 14 days triple therapy that could be attributed to more eradication rate for H. pylori.

11.
Article de Anglais | WPRIM | ID: wpr-180027

RÉSUMÉ

Toxoplasmosis is considered as an important risk factor for bad obstetric history (BOH) and one of the major causes of congenitally acquired infections. The present study aimed to estimate the seropositivity of T. gondii infection and associated risk factors among the attendees of high risk pregnancy and low risk antenatal care clinic of Minia Maternity and Pediatric University Hospital, Minia, Egypt. The study was carried out from April 2013 to April 2014 through 2 phases, the first phase was case-control study, and the second phase was follow-up with intervention. A total of 120 high risk pregnant and 120 normal pregnant females were submitted to clinical examinations, serological screening for anti-Toxoplasma IgM and IgG antibodies by ELISA, and an interview questionnaire. Seropositive cases were subjected to spiramycin course treatment. The results showed that the seroprevalence of toxoplasmosis in high-risk pregnancy group was 50.8%, which was significantly different from that of normal pregnancy group (P<0.05). Analysis of seropositive women in relation to BOH showed that abortion was the commonest form of the pregnancy wastage (56.5%). The high prevalence of T. gondii seropositive cases was observed in the age group of 21-30 years. Post-delivery adverse outcome was observed in 80.3% of high-risk pregnancy group compared to 20% of normal pregnancy group. There was a statistically significant relationship between seropositivity and living in rural area, low socioeconomic level, and undercooked meat consumption (P<0.05). Serological screening for anti-Toxoplasma antibodies should be routine tests especially among high-risk pregnant women.


Sujet(s)
Adolescent , Adulte , Femelle , Humains , Grossesse , Jeune adulte , Anticorps antiprotozoaires/sang , Études cas-témoins , Égypte , Test ELISA , Comportement alimentaire , Études de suivi , Hôpitaux universitaires , Immunoglobuline G/sang , Immunoglobuline M/sang , Complications infectieuses de la grossesse/épidémiologie , Facteurs de risque , Population rurale , Études séroépidémiologiques , Facteurs socioéconomiques , Enquêtes et questionnaires , Toxoplasma/immunologie , Toxoplasmose/épidémiologie
12.
Saudi Medical Journal. 2014; 35 (12): 1507-1509
de Anglais | IMEMR | ID: emr-153723

RÉSUMÉ

Air guns [AGs] use air or another compressed gas to propel a projectile. Different injuries may occur in children due to their body structure, which is lessresistant with thin soft tissue coverage that can be easily penetrated by an AG shot. We present 3 cases of pediatric AG shot injury. The first-case had right lumber deep tissue penetration of AG pallet without internal damage, the second-case had a complex course of pellet into the perineum, and the third-case was shot in the left shoulder. All cases were accidentally shot. The shooters were all children, and relatives of the victims. All patients were generally stable on arrival. Two cases were operated, and one received conservative management. On follow up, no complications were noted. At first sight, AGs and air rifles may appear relatively harmless, but they are potentially lethal and children should not be allowed to play with them.

13.
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (1): 31-38
de Anglais | IMEMR | ID: emr-154345

RÉSUMÉ

MBL2 gene polymorphisms affect serum concentration of mannose-binding lectin and are associated with infectious conditions. Acute respiratory tract infections are among the most prevalent infections in childhood with the highest incidence among children younger than 2 years. This study aimed at correlation between the occurrence of acute respiratory tract infections and the prevalence of MBL2 gene codon [54] and promoter variants among the Egyptian infants in the study. This case-control study included 25 neonates [0.21 +/- 0.19 months], 25 infants [9.65 +/- 8.5 months] with acute respiratory tract infection and normal control group. CBC, CRP and chest X-ray were done. DNA was extracted from peripheral blood. Genotypes of MBL gene codon 54-exon 1[G54D] were identified by PCR-RFLP analysis. MBL2 promoter genotyping was performed by allele-specific polymorphisms at -550 [H/L] and - 221[X/Y]. Incidence of LX promoter haplotype among the patients was [58%] [p < 0.05]. Homo-zygosity for codon [54] allele A [high expression activity] among patients was [72%] [p > 0.05]. Heterozygote codon 54 A/B genotype appeared more in patients [18%] [p < 0.05]. Mutant genotype [too low expression activity] was more in patients but the difference was insignificant. Collectively the mutant allele [glycine to aspartic acid, allele B] appeared in 28% of patients compared to 20% in control [p > 0.05]. YA/XA heterozygote promoter genotype was more prevalent among patients group [44%] [p < 0.05]. Low-expression promoters [XA/B] and [B/B] appeared more in the patients [20%] compared to [12%] among control group [p > 0.05]. Among ICU neonates, LX promoter was the most prevalent among all grades of respiratory distress [39.13%] followed by LY allele [34.78%]. In the infants group, LY allele was [52.1%] with equal distribution of LY and HY [23.91% each]. Although there is a significantly increased incidence of LX promoter coding for low serum MBL concentrations among the ARTI patients; the YA/XA heterozygote promoter genotype was more prevalent over the homozygote mutant genotype. Also, the heterozygote codon 54 A/B genotype was more prevalent in the group of patients compared to the control. This may be an example of heterosis [heterozygote advantage] which may support the concept of balanced polymorphism


Sujet(s)
Humains , Mâle , Femelle , Nourrisson , Lectine liant le mannose/génétique , Génotype , Haplotypes , Réaction de polymérisation en chaîne/méthodes
14.
Journal of Drug Research of Egypt. 2014; 35 (1): 57-62
de Anglais | IMEMR | ID: emr-169883

RÉSUMÉ

Liver biopsy is the gold-standard method to stage fibrosis; however, it is an invasive procedure and is potentially dangerous. Fibro Test and Acti Test are noninvasive tests used in determining the level of fibrosis and the degree of necroinflammatory activity in the liver. Thirty patients were included in this study. For each patient, serum samples were obtained and liver needle biopsies were performed. Levels of fibrosis were assessed using both Fibro and liver biopsy tests. Similarly, levels of cirrhosis were detected using ActiTest and liver biopsies. Interestingly, we found a significant positive correlation between fibrosis estimated by biopsy and the level of fibrosis in Fibro Test. Fibrosis stages estimated by fibro test were identical to fibrosis obtained by the liver biopsy. On the other hand, the activity grades of cirrhosis estimated by Acti test showed a 77% match to that obtained by the liver biopsy. In conclusion, FT-ACT is the only test in which results are reported for determination of the degree of fibrosis, necrosis prognostics and treatment planning purposes of liver diseases

15.
Saudi Medical Journal. 2014; 35 (8): 865-867
de Anglais | IMEMR | ID: emr-148876

RÉSUMÉ

Toe tourniquet syndrome refers to external, mechanical, circumferential constriction of the toes. We report a series of 4 infants with toe tourniquet syndrome from Saudi Arabia who presented during wintertime with very similar symptoms [approximately 48 hours of inconsolable crying and irritability], similar involved region [toes], and similar constricting agent [hairs]. Immediate removal of the hair fibers was carried out in all patients, fortunately followed by fast healing with no signs of tissue necrosis. The prompt diagnosis and treatment of the condition were vital in attaining the good outcome and preventing ischemic complications


Sujet(s)
Humains , Mâle , Femelle , Orteils/anatomopathologie , Syndrome , Ischémie
16.
Urology Annals. 2013; 5 (1): 30-33
de Anglais | IMEMR | ID: emr-146879

RÉSUMÉ

Trans-rectal ultrasound [TRUS] is a safe, cost-effective, radiation-free imaging modality for evaluation of prostate. But unfortunately, hemospermia is known to be associated with TRUS-guided prostate biopsy. The aim of this study is to measure the incidence and risk factors of hemospermia in patients undergoing TRUS. A prospective observational study involving patients undergoing TRUS for suspected prostate cancer has been conducted at AI-Hussein and Sayed Galal Hospitals. Forty patients were included in the study. Most men [90% = 36 patient] undergoing TRUS-guided prostatic biopsy, who were able to ejaculate, experienced hemospermia, which was associated with some degree of anxiety. The mean duration of hemospermia was 4 [+/- 1.4] weeks. The number of ejaculations before the complete resolution of hemospermia was 6 [+/- 5.6]. None of the clinical and pathological factors was a significant predictor of the duration of hemospermia. Patients should be adequately counseled before TRUS-guided prostatic biopsy to avoid anxiety and alterations in sexual activity


Sujet(s)
Humains , Mâle , Prostate/imagerie diagnostique , Prostate/anatomopathologie , Biopsie guidée par l'image , Biopsie
17.
Egyptian Journal of Medical Human Genetics [The]. 2013; 14 (2): 157-164
de Anglais | IMEMR | ID: emr-170445

RÉSUMÉ

Consanguineous marriages have been practiced since the early existence of modern humans. Until now, consanguinity is widely practiced in several global communities with variable rates. The present study was undertaken to analyze the effect of consanguinity on different types of genetic diseases and child morbidity and mortality. Patients were grouped according to the types of genetic errors into four groups: Group I: Chromosomal and microdeletion syndromes. Group II: Single gene disorders. Group III: Multifactorial disorders. Group IV: Diseases of different etiologies. Consanguineous marriage was highly significant in 54.4% of the studied group compared to 35.3% in the control group [P < 0.05]. Consanguineous marriages were represented in 31.4%, 7.1%, 0.8%, 6%, 9.1% among first cousins, one and a half cousins, double first cousins, second cousins and remote relatives respectively in the studied group. Comparison between genetic diseases with different modes of inheritance showed that recessive and multifactorial disorders had the highest values of consanguinity [78.8%, 69.8%, respectively], while chromosomal disorders had the lowest one [29.1%]. Consanguineous marriage was recorded in 51.5% of our cases with autosomal dominant diseases and in 31% of cases with X linked diseases, all cases of mental retardation [100%] and in 92.6% of patients with limb anomalies [P < 0.001]. Stillbirths, child deaths and recurrent abortions were significantly increased among consanguineous parents [80.6%, 80%, 67%] respectively than among non consanguineous parents. In conclusion, consanguineous marriage is significantly higher in many genetic diseases which suggests that couples may have deleterious lethal genes, inherited from common ancestor and when transmitted to their offsprings, they can lead to prenatal, neonatal, child morbidity or mortality. So public health education and genetic counseling are highly recommended in our community


Sujet(s)
Aberrations des chromosomes , Conseil génétique , Éducation pour la santé
18.
Egyptian Journal of Medical Human Genetics [The]. 2013; 14 (3): 299-305
de Anglais | IMEMR | ID: emr-170465

RÉSUMÉ

Many children who sustain birth injuries to the brachial plexus suffer significant functional limitations due to various sequelae affecting the shoulder and elbow or forearm. The aim of this study was to test the feasibility of a treatment program based on the elements of the modified constraint induced movement therapy [MCIMT] to encourage use of the affected arm of a child with obstetric brachial plexus injury [OBPI]. Thirty children with OBPI from both sexes ranging in age from three to five years were assigned into two groups of equal number. The control group [group A] who received the exercise program which focused on improving the arm function as well as shoulder abduction and external rotation and the study group [group B] received MCIMT in addition to the same exercise program given to the control group. The arm function was evaluated by the Mallet score system, while active abduction and external rotation range of motion were measured by a standard universal goniometer. The results revealed no significant difference when comparing the pretreatment mean values of the two groups [study and control], while a significant improvement was observed in measuring variables of the two groups when comparing their pre and post treatment mean values. A significant difference was also observed when comparing the post treatment results of the two groups in favor of the study group [group B]. The modified constraint movement therapy is an effective method on improving the arm function in children with OBPI


Sujet(s)
Humains , Mâle , Femelle , Obstétrique , Enfant , Troubles de la motricité , Bras , Traitement par mobilisation passive continue
19.
Assiut Medical Journal. 2013; 37 (2 Supp.): 69-80
de Anglais | IMEMR | ID: emr-187330

RÉSUMÉ

Aim of the study: This study was undertaken to investigate the potential role of exercise to attenuate remote pulmonary damage fallowing rat hindlimb ischemia reperfusion injury [I/R]


Materials and methods: forty five adult male rats were divided into three groups [15 animals each]: The sham group, I/R group and the exercised group [E + I/R group]. The rats were made to swim for 1 h, five vines a week, for 4 weeks before I/R. Bilateral hindlimb ischemia was induced by application of rubber bands above the greater trochanter for 3 h. Following 3 h of reperfusion, blood samples were taken for determination of arterial partial pressure of oxygen [PaO[2]], arterial partial pressure of carbon dioxide [PaCO[2]], malondialdehyde [MDA], superoxide disniutase [SOD], tumor necrosis-alpha [TNF-alpha] and interleukin-6 [IL-6]. The animals were scarified and right lung were prepared for histological evaluation and immunohistochemical analysis for caspas-3 and the left lung used for lung tissue wet- to-dry weight with [W/D]


Results: In I/R group, the PaO[2] and SOD levels were decreased, plasma levels of MDA, TNF- alpha and IL-6 and W/D ratio were significantly increased when compared to sham group, there was prominent thickening of the interalveolar sepia and hypertrophy of the smooth muscles around the bronchioles. Interstitial edema and capillary congestion can he observed. The bronchial epithelium revealed apoptotic changes. Also, there was a positive immune reaction for caspase-3 of the rat lung in alveolar cells and interalveolar septa. Exercise increased PO2 and SOD, attenuated the inflammatory edema [as assessed by alien nation of lung W/D ratio and the lung showed more or less normal architecture with few areas of slight thickening of the interalveolar sepia. The bronchioles showed normal epithelium and circularly arranged smooth muscles], accompanied by significant reduction in plasma levels of MDA, TNF-alpha and IL- 6 in E+ L/R group when compared with I/R group. A slight positive immune reaction for caspase-3 was shown


Conclusions: Exercise could attenuate the remote lung injury after hindlimb ischaemia reperfusion injury through its ant: oxidative, anti-inflammatory and anti apoptotic effects


Sujet(s)
Mâle , Animaux de laboratoire , Membre inférieur , Rats , Agents protecteurs , Interleukine-6/sang , Exercice physique , Facteur de nécrose tumorale alpha , Tests de la fonction respiratoire , Poumon/anatomopathologie , Histologie , Antioxydants
20.
Assiut Medical Journal. 2013; 37 (2 Supp.): 109-122
de Anglais | IMEMR | ID: emr-187333

RÉSUMÉ

Background: It is known that sleep loss is associated with increased cardiovascular diseases. However, scanty data are available on the effects of chronic sleep restriction [SR] on hemostasis, systemic inflammation and sympathetic nerve activity and the gender differences in those effects


Aim of the study: This study was designed to investigate the effects of long term SR on some hemostatic parameters, on the inflammatory markers C-reactive protein [CRP,] and tumor necrosis factor alpha [TNF-alpha] and on the sympathetic nerve activity in male and female rats. In addition to examine whether the sympathetic nervous system plays a role in mediating these effects


Materials and Methods: This study was carried out on 24 adult male and 24 adult female rats divided into six groups: male control [n=6 rats], male sleep restriction [male SR, n=10 rats], male sleep restriction + carvedilol [male SR+ carvedilol, n=8], female control group [n=6 rats], female sleep restriction [female SR, n=10 rats] and female sleep restriction+ carvedilol [female SR+ carvedilol, n=8]. Carvedilol [adrenoreceptor antagonist] was administrated daily for 21 days at a dose of 0.5 mg/kg oraly. Sleep restriction rats were submitted to chronic sleep deprivation for 18 h by the multiple platform method for 21 days. The bleeding time, blood clotting time, prothrombin time, and plasma fibrinogen were measured .for all rats. The systolic blood pressure [SBP] and the sciatic nerve activity [SNA] were determined, plasma CRP and TNF-alpha levels were estimated


Results: Twenty one days of SR significantly reduced blood clotting time, prothrombin time and increased plasma fibrinogen levels in female. SR rats compared with female control rats, while male SR rats showed a less pronounced changes in those parameters. Female rats in SR+/ carvedilol group had higher blood clotting time and lower plasma fibrinogen levels than SR females. A significant increase of SBP was observed in male and, female SR groups compared to their baseline and their control values. Male and female groups subjected to SR together with carvedilol supplementation had SBP values comparable to their controls and to baseline values. SNA was significantly higher in the SR and SR+ carvedilol groups than in controls, but SNA was less in the male and female SR treated with carvedilol than in SR rats. Plasma levels of TNF-alpha showed a significant increase in male and female SR groups than controls, while plasma CRP mean level was significantly elevated only in female SR group. Male and female in SR + carvedilol groups exhibit lower levels of TNF-alpha than male and female SR groups


Conclusion: These data suggest that gender had differential effects on the hemostasis, systemic inflammation and sympathetic nerve activity in response to sleep restriction. Those sleep restriction effects result, at least in part, from increased sympathetic activity. All those factors were altered in a direction that is recognized to contribute to the development of cardiovascular disease in females more than males


Sujet(s)
Femelle , Animaux de laboratoire , Maladie chronique , Bloc anesthésique du système nerveux autonome , Hémostase , Caractères sexuels , Rats
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