Role of three side support ankle-foot orthosis in improving the balance in children with spastic diplegic cerebral palsy

Cerebral palsy [CP] is a heterogeneous group of permanent, non-progressive motor disorders of movement and posture. Ankle-foot orthoses [AFOs] are frequently prescribed to correct skeletal misalignments in spastic CP. The present study aims to evaluate the effect of the three side support ankle-foot orthosis on standing balance of the spastic diplegic CP children. Thirty spastic diplegic CP children participated in this study from both sexes. They were divided randomly into two age and sex matched groups: [Group I: study group and Group II: control group]. The degree of spasticity was evaluated by passive movement for both limbs, while the child was completely relaxed. The Biodex stability system, was used for the assessment of the dynamic postural control of all diplegic children. Also the system measures the subject's ability to control the platform's angle of tilt. The patient's performance is noted as stability index which represents the variance of the platform displacement in degrees. Every patient in the study group was exercised on three side support ankle-foot orthosis for 30 min, three times weekly, for 6 months, also they received the same therapeutic exercise program which was given to the control group. The results revealed no significant difference as regards the pre-treatment mean values of all stability indices in both the control and the study groups [P < 0.05]. However comparison between post-treatment mean values of all stability indices in both groups showed significant improvement in favor of the study group [p < 0.05]. Uses of the three side support ankle-foot orthosis in addition to physical exercise program is highly useful in rehabilitation of spastic diplegic cerebral palsy children as they enabled them to gain more balance control and postural reactions

Consanguinity and its relevance to clinical genetics

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

Risk factors for autism: an Egyptian study

This study has been conducted to determine the possible risk factors of autism. This case control study was conducted at pediatric hospital, Ain Shams University on, 100 autistic patients who were subjected to the followings tools: Confirmation of diagnosis using DSM-IV-TR criteria, IQ assessment using Stanford-Binrent intelligence scale, and assessment of severity of autistic symptoms using childhood autism rating scale [CARS]. Full clinical examination, neurological examination, EEG and audiological assessment were also done. Forty-six percent of our patients with autistic symptoms presented at the age of one and half years and 32% at the age of 2 years. Fifty-five percent of our patients had mild to severe retardation [IQ = 20-70], 36% below average mentality [IQ = 71-89] and 9% with normal mentality [IQ = 90-109]. High maternal age [mother, P35 years] at birth was found in 23% of autistic children in comparison to 9.5% of controls. Also advanced paternal age [father, P35 years] at birth was found in 91% of cases in comparison to 83.5% of control group and the difference was statistically significant. Positive family history was found to be statistically significantly associated with the risk of autism [16% of cases versus 1% of control]. All studied developmental milestones were delayed among autistic children than control group [p= 0.000]. As regards natal factors, a history of low birth weight, delivery by ceserian section were significantly higher among cases than controls. Also postnatal factors as history of hypoxia, resuscitation and history of jaundice were considered significantly risk factors for autism [p=0.000]

Correlation between the RhD genotyping and RhD serotyping in isoimmunized pregnancies

Alloimmunisation was one of the most important causes of perinatal mortality and morbidity by the middle of the last century. The objective of the present study was to investigate the presence of the RHD gene in fetal cells [amniocytes] obtained from amniotic fluid by genotyping to compare it with the RhD serotyping. Also to correlate the presence of RhD gene with the neonatal outcome. This work was carried out at Maternity hospital and Medical Genetics center, while PCR testing was done at the Medical Research center, Faculty of Medicine, Ain Shams University in the period from 2008 to 2010. The present study included recruiting of 20 RhD negative [sensitized to the RhD antigen] pregnant mothers. The entire study group was subjected to complete general, obstetric and a detailed obstetric ultrasonographic examination. Rh typing and indirect Coomb's test were also done. Amniocentesis was performed with a 20-gauge needle under continuous ultrasound guidance. RhD serotyping of the fetuses showed that, 14 fetuses [70%] were positive and six fetuses [30%] were negative. While using RhD gentyping 13 cases [65%] were positive and seven cases [35%] were negative [P value = 0.002]. Among fetuses positive for RhD genotyping six fetuses [46%] had received postnatal treatment, while among fetuses negative for RhD genotyping, neither of them had received postnatal treatment [P value = 0.032], which is statistically significant. From the present study we can conclude that, the identification of an antigen-negative fetus on the basis of the blood group genotype provides significant advantages in managing the pregnancy at risk for HDFN

Ocular features in Egyptian genetically disabled children

Ocular changes in genetically disabled children are great and of special importance. The aim of the present study was to delineate the nature and frequency of ocular defects in genetically disabled children. A cross sectional study was carried out. It included 95 genetically disabled children who were chosen from the medical genetics and ophthalmic departments, Ain-Shams University Hospitals, and examined for any associated ocular abnormalities. Studied patients were divided into six groups [Group I: Chromosomal disorders [Down syndrome], Group II: Genetic syndromes, Group III: Cranial anomalies, Group IV: Inborn errors of metabolism [IEM], Group V: Cerebral palsy, Group VI: Mental retardation]. Anomalies of the eyelids were detected in 63.1% of our patients. They were significantly increased in group I [Chromosomal disorders [Down syndrome]], compared to other groups. Errors of refraction were detected in all Down syndrome patients. On the other hand some ocular findings were present in our Down syndrome patients and not reported in the literature before; these include, lacrimal fistula, lagophthalmos, heterochromia, macrocornea and ectropion in 3.3% of patients, tortous retinal vessels, entropion, and prominent upper punctum in 6.6%, ptosis in 10%, microcornea, absent foveal reflex, and blepharophimosis in 13.3% of our cases. Lacrimal apparatus abnormalities were detected in 11.5% of our patients, the highest frequency was detected among the chromosomal disorder group 27%. Conjunctival and scleral abnormalities were also detected in 10.5% of our patients, where the group of chromosomal disorders had the highest frequency [20%]. Cornea and anterior chamber abnormalities were detected in 30.5%, these abnormalities had the same frequency [33%] in the groups of chromosomal disorders, genetic syndromes and inborn errors of metabolism. Iris and pupil abnormalities were detected in 15.7% of our patients. Lens abnormalities were detected in 10.5% of our patients, where the group of inborn errors of metabolism had the highest frequency [44%]. Ocular musclesand mobility abnormalities were diagnosed in 47.3% of our patients. Fundus examination revealed abnormalities in 34.7% of patients,where the group of cerebral palsy had the highest frequency [50%].Our results emphasize that, the earlier and better the visual sense function, the greater the chance the child will achieve his potential.The ophthalmologist, paediatricians, geneticists must work hand in hand for detection of ocular disorders in genetically disabled children to initiate diagnostic and therapeutic measures to control the disease

Mitochondrial alterations in children with chronic liver disease

Over recent years it has become apparent that the hepatocyte mitochondrion functions both as a cause and as a target of liver injury. Resultant dysfunction of mitochondria yields deficient oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways and activation of both necrotic and apoptotic pathways of cellular death. Methods: This study was conducted on 26 children and adolescents with chronic liver disease who presented to or were following up in the Pediatric Hepatology Clinic, Children's Hospital, Ain-Shams University. They were divided into three groups according to the aetiology of liver disease [GI= patients with Wilson's disease [WD], GII=patients with chronic hepatitis C, GIII=patients with chronic liver disease other than Wilson's and chronic hepatitis C].Ultrasound-guided gun liver biopsies were performed, under local anaesthesia for all the 26 patients, using a modified 18-gauge truecut needle. Two liver biopsy cores were taken from each patient. One for light and electron microscopic examinations and the other was immediately immersed in liquid nitrogen to be frozen and used for studying mitochondrial DNA deletions by PCR Liver steatosis was higher in the group of patients with Wilson's disease and other liver disease. Electron microscopic examination of the mitochondria revealed significant mitochondrial pleomorphism in patients with Wilson's disease and patients with chronic hepatitis C infection. Enlarged mitochondria were found to be more prevalent among patients with chronic hepatitis C infection. Three of our patients [11.53%] had mitochondrial DNA deletions. We developed scoring system for mitochondrial affection in our patients, 7 patients [32%] were considered to have mild mitochondrial affection, 9 patients [41%] had moderate mitochondrial affection, while 6 patients [27%] had severe mitochondrial affection. Four of the studied patients had no mitochondrial affection. Conclusion: Mitochondria affection is common in chronic liver disease. This mitochondrial affection might be responsible for some of the chronic liver disease manifestation such as easy fatiguability and steatosis

Genomics in health and disease

Genomics is the study of all person's genes including interactions of those genes with each other and person's environment. Many Factors contribute to human health and disease. Our environment and our biology are two factors that strongly influence our health. For along time, it was believed that disease resulted entirely from our environment or entirely from our biology. Now we are seeing that many human diseases are a result of a complex interaction between our biology and our environment and many other factors. The completion of the Human Genome Project signaled that the genome revolution was here to stay and symbolized its promise that knowing the DNA sequence of our genome and those of hundreds of other organisms would allow us to take on the greatest challenges of human health and alleviate human suffering. The Aim of this review is to discuss the influence of genomics on global health and genetics susceptibility to disease

Fetal chromosome abnormalities and congenital Malformations: an Egyptian study

Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. The study was performed on 784 pregnant women. The cause for seeking genetic counseling in 22.8% of the study cases was positive family history of CNS malformations, and in 17.9% was chromosomal abnormalities in previous child. Also, the results showed that the indications for amniocentesis in 60.8% were history of having previous child with Down syndrome, and in 15.3% were advanced maternal age. The results of chromosomal analysis of amniotic fluid samples; 21 cases [19.3%] had chromosomal abnormalities, where trisomy 21 [Down syndrome] were detected in 10 cases [9.2%], unbalanced translocation Down syndrome were detected in 9 cases [8.3%] and one had 46 XX, del [13-q], one had 45, XX, t[13;14] and 2.8% was 46, XX, +21, der[14;21][q10;q10]. The risk of complications of amniocentesis was associated with performing amniocentesis early in pregnancy, and with increased number of attempts. The results also showed that multiple cogenital anomalies [MCA] represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% andpyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic fluid, the decision to terminate the pregnancy was made in 3 [14.3%]. Among the 45 cases with abnormal findings suggesting fetal congenital malformation, 16 [35.6%] chose termination of their pregnancy. Public awareness of the risks and difficulties facing a child with chromosomal anomalies or congenital malformation and the effect on their future health and living is of great importance for acceptance of prenatal screening. Prenatal diagnosis may affect the reproductive descision after genetic counselling. It is essential that genetic counselling is noncoercive and nonjudjemental. The couple's decision [even if it is different from the counseller's views] should be respected

Role of dermal ridge configuration in early detection of congenital anomalies

Early identification of congenital anomalies at birth is very important for genetic counseling and possible prevention. Often, malformations of hands are cardinal manifestations of many multiple anomalies syndromes. This work was designed to study dermatoglyphics as an additive marker for the diagnosis of associated congenital anomalies of newborns as well as of children. All cases and controls under study were subjected to: a-Complete medical history taking. b-Full clinical examination. c- Descriptive analysis of palm and sole creases as well as finger prints in each case using photography analysis. 1- Using chi-square test there was no statistically significant difference between the two study groups, regarding consanguinity [p<0.05, X[2] = 0.23]. Comparison between controls and cases as regards pattern count in digits in both hands revealed increased incidence of loops open to ulnar side [LU] in cases [556] compared to [342] in controls. 2- There is no statistically significant difference as regards mean digit ridge count in cases group compared to controls [p > 0.05, t -0.911]. 3- Comparison between cases and controls as regards the [Atd] angle, using t-test, revealed no statistically significant difference in mean count [p > 0.05, t for left hand -1.729 and for right hand -1.232]. 4- Classification of cases and controls according to [x] axial triradius using Chi-square test revealed no statistically significant difference between the two groups as regards the distribution of axial triradius in both hands [p> 0.05, X[2] 2.60]. 5- Comparison between controls and cases as regards the TRC of toe using student's t-test revealed high statistically significant difference in mean count in cases when compared to controls [p < 0.05, t -5.114]. The findings of this study showed that dermatoglyphics analysis can not be relied upon as a diagnostic aid in evaluating the newborn having chromosomal aberrations, but it can be used as screening aid for chromosomal aberrations

Polymorphisms of TAP1/LMP7 loci in Egyptian patients with vitiligo

Vitiligo is a very common, often heritable acquired disorder characterized by well-circumscribed milky white cutaneous macules devoid of identifiable melanocytes. Vitiligo appears to be more commonly observed in parts of the body exposed to the sun and in darker skin types and may develop at any age. Our study contained 47 unrelated Egyptian young-aged vitiligo patients [age range 2-18 y] and 14 healthy volunteers of matched age range. All patients experienced active vitiligo lesions with no signs of other autoimmune disorders. To genotype the TAP1 [C>T intron 7] and LMP7 [G>T intron 6], we amplified the genomic DMA using polymerase chain reaction [PCR] using genomic DNA followed by enzymatic digestion. Our results showed no significant difference between TAP1 C>T [intron 7] and LMP7 G>T [intron 6] alleles and healthy controls [p= 0.3 or 0.5, respectively]. Even so, the odd ratios [ORs] for the genotypes of the TAP1 [C>T] were 1.78 [0.4 to 7.0], 0.8 [0.5 to 1.2], and 1.19 [0.2 to 4.9] for the TAP1-CC, CT, TT-genotypes, respectively. The ORs of LMP7 [intron G>T] genotypes were 1.4 [0.3 to 6.0], 0.8 [0.5 to 1.3], 1.19 [0.3 to 3.6] for GG, GT, and TT, respectively. However, a major contribution of both TAP1 and LMP7 polymorphisms to vitiligo susceptibility cannot be excluded. Further studies of other alleles within the TAP and LMP gene regions in Egyptian patients is recommended to demonstrate a possible role for MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response in vitiligo pathogenesis