therapeutic role of vitamin E and C on non syndromic sensorineural hearing loss

Antioxidants help in preventing further degeneration or possibly even reverse degenerative processes after they have been activated. Free radical scavengers, such as vitamin E and vitamin C, protect inner ear from oxidative damage. To evaluate the efficacy of two classes of agents found effective in preventing sensorineural hearing loss [antioxidants and low fat diet] and determine if it can improve the degree of hearing loss by preventing oxidative damage. fifty four patients were divided into two groups, twenty four patients were given vitamin E and C for two months and thirty patients were given low fat diet [without animal fats] for two months. Auditory function was monitored along with plasma concentrations of Beta carotene, vitamins A, E and C and lipid peroxidation. Also, zinc, copper, calcium, phosphorus and magnesium together with immunoglobulin G, M and A levels were estimated before and after treatment. Significant increase in antioxidants and decrease in lipid peroxidation was observed in the group which was given vitamin E and C. The addition of antioxidants significantly enhanced the evoked responsiveness over that observed with the low fat diet group indicating a putative role of antioxidants in the pathogenesis of sensorineural hearing loss. The findings showed that supplemental dietary antioxidant may have a beneficial role in the prevention of deafness. It also proved a relationship between low fat diet and improvement of hearing loss

Oxidative stress in nonsyndromic sensorineural hearing loss

Ototoxicity seems to result from the inhibition of cochlear antioxidant defenses, causing an increase in the amount of reactive oxygen species. These findings suggest a causal relationship between the formation of reactive oxygen species, oxidative stress and functional/morphological ear damage. auditory function was monitored along with plasma concentrations of copper, zinc, calcium, phosphorus, magnesium and iron. Further more, lipid peroxidation, beta carotene, vitamin A, E and C activities and immunoglobulin G, M and A levels were estimated. A significant decrease in calcium, phosphorus, beta carotene, and vitamin E activities as well as low levels of immunoglobulin G and M were found. The observed increase in lipid peroxidation is indicative for oxidative stress which suggests a putative role of antioxidants in the pathogenesis of sensorineural hearing loss. Conclusion: The results support the hypothesis that dietary and immune factors influence individual susceptibility to hearing loss. Further studies are needed to verify whether antioxidants, correction of deficient nutrients and/or immune modulation would improve sensorineural hearing loss

Genetic heterogeneity in spondylo-epi-metaphyseal dysplasias: a clinical and radiological study

Spondylo-epi-metaphyseal dysplasias [SEMD] are a heterogeneous group of skeletal disorders characterized by defective growth and modeling of the spine and long bones. Different types are described in the literature. Accurate classification of SEMDs is essential for proper genetic counseling. This study included 20 cases of SEMDs diagnosed by clinical and radiological findings. Cases were classified based on additional associated clinical and/or radiological features into 7 subtypes. Different subtypes were discussed with review of the literature. The study illustrated the heterogeneity of SEMDs and emphasized the importance of detailed and meticulous clinical genetic and biochemical evaluation in addition to comprehensive radiological investigations for such group of disorders. It also recommends further molecular studies to identify the molecular bases of the different types

effect of diet on antioxidant status in patients with galactosemia

Galactosemia is an autosomal recessively inherited disorder of galactose metabolism. It has good prognosis, if detected in neonatal period or early infancy. Treatment consists of life long dietary restriction of galactose. Present study included eight patients with galactosemia on dietary treatment, five of them had galactose-1-phosphate uridyltransferase deficiency known as classical galactosemia and three had uridine-diphosphate galactose-4' epimerase deficiency. Clinical evaluation of patients under galactose restricted diet and assessment of the antioxidant status in response to dietary therapy was done. Delayed milestones were present in all patients, jaundice at birth was present in 4 and low birth weight was present in 3 patients. Craniofacial dysmorphism was present in 5 patients. Hepatomegaly was present in 6 patients. MRI of the brain showed brain atrophy in 3 patients and demyelination in 2 patients. There was cataract in 7 patients. The levels of zinc, copper, iron, calcium, phosphate, magnesium, selenium, manganese, beta-carotene and vitamin A were evaluated in the blood of galactosemic patients on galactose restricted diet and a comparison between trace elements, beta-carotene and vitamin A in studied patients with galactosemia and controls was done. Copper, calcium, phosphate, manganese and beta-carotene levels in blood were significantly decreased in our patients [p<0.001] than in controls. These findings suggest that patients on galactose restricted diet are at risk of oxidative stress. The data emphasize the importance of dietary supplementation with an antioxidant containing beta-carotene, calcium, copper, selenium and manganese to inhibit oxidative stress in these patients. Consequently this will minimize the neurological deficits improve bone mineralization, reduce the development of retinopathy and damage to liver cells in patients with galactosemia

Anthropometry and genetic factors in Egyptian Down syndrome children

The present study aimed to investigate the genetic risk factors among the Egyptian Down syndrome [DS] cases and to study the association between the parental body physique and growth pattern of DS. Evaluation of sibs' growth was also done. The study included 75 Egyptian DS children [42 boys and 33 girls] ranged in age from one month to 13.25 years. Pedigree analysis, thyroid profile, cardiac evaluation and chromosomal study were performed. For every case anthropometric parameters were taken including weight, height and head circumference. Body mass index [BMI] was calculated. Anthropometric parameters of 73 mothers, 33 fathers and 16 sibs were also taken. Bone age evaluation and prediction of adult height were done for 29 cases. Target genetic height was estimated. According to parental BMI cases were divided into two groups [DS children with obese and non-obese parents]. The results showed positive consanguinity in 28.36% of cases, with first degree consanguineous patients in 10.45%. Down syndrome patients with congenital heart disease [CHD] had higher consanguinity rate compared to cases without CHD. Positive family history of DS was seen in 1.54% and of other genetic disorders in 18.46% of cases. Mean maternal and parental ages were 32.9 and 37.2 years, respectively. Birth order showed no significant difference between first and late born DS children. Trisomy 21 was found in 88.6% of cases, translocation in 9.0% and mosaicism in 2.2%. Mean predicted adult heights for female and male cases were 148.3 and 156.11 cm, respectively. Reduced mid parental height was associated with abnormally decreased target genetic height of DS children. Short stature was noticed in 44.16%, microcephaly in 62.16% and obesity in 16% of cases. Tendency for obesity was increased with advantage of age. Significant positive correlations were observed between maternal weight and both the patient's weight and BMI and between maternal height and the patient's height. Obese and short DS cases had mothers characterized by obesity and short stature. Short stature was found in 18.75% of DS siblings

effect of diet on antioxidant status in patients with galactosemia

Galactosemia is an autosomal recessively inherited disorder of galactose metabolism. It has a good prognosis, if detected in neonatal period or early infancy. Treatment consists of life long dietary restriction of galactose. Our study included eight patients with galactosemia on dietary treatment, five of them had galactose-1-phosphate unidyltransferase deficiency known as classical galactosemia and three had uridine-diphosphate galactose-4' epimerase deficiency. Delayed milestones were present in all patients, jaundice at birth was present in 4 and low birth weight was present in 3 patients. Craniofacial dysmorphism was present in 5 patients. Hepatomegaly was present in 6 patients. MRI of the brain showed brain atrophy in 3 patients and demyelination in 2 patients. There was cataract in 7 patients. The aim of this study was to asses the antioxidant status in response to dietary-therapy. The levels of zinc, copper and Iron, calcium, phosphate, magnesium, selenium, manganese, beta-carotene and vitamin A were evaluated in the blood of galactosemic patients on galactose restricted diet. Also, a comparison between trace elements, beta-carotene and vitamin A in studied patients with galactosemia and controls was done. Copper, calcium, phosphate, manganese and beta-carotene levels in blood were significantly decreased in our patients [p<0.001] than in controls. These findings suggest that treated galactosemic patients are at risk of oxidative stress and abnormal bone mineralization. Therefore, therapeutic intervention in these cases should be more appropriately targeted. The data emphasise the importance of antioxidants and trace elements in minimizing the neurological deficits in galactosaemic patients

Genetic studies of congenital contractures of limbs

Congenital contractures of limbs comprise a category of limb malformations that poses a difficult diagnostic and therapeutic problem. They can occur as an isolated defect or as part of syndromes. This study included 46 patients with congenital contractures of limbs. Cases were referred to the Limb and Skeletal Anomaly Clinic at the National Research Centre. Detailed family history, pedigree construction, physical and orodental examination, anthropometric measurements and radiological studies were carried out for all cases. Cytogenetic analysis using G-banding and high resolution techniques were carried out for 36 cases. Biochemical and neurophysiologic studies were conducted for selected cases. According to clinical phenol-type, cases were classified into 4 main categories, which were further subdivided into 16 entities. Category [I]: included congenital contractures that affected primarily the musculoskeletal system, 18 cases were in this category comprising 8 entities. Category [II]: Twenty cases had musculoskeletal involvement in addition to other system malformations or anomalies comprising 5 entities, of which 11 cases had multiple pterygium syndrome. Category [III]: Six patients in this study had musculoskeletal involvement plus lethality, CNS anomalies or mental retardation. Four were diagnosed as Pena-Shokeir syndrome, one with Aase-Smith syndrome and another case showed dup [1] [p36.1-36.2]. Category [IV]: Contracture deformities of limbs due to environmental factors, which were present in 2 cases only. Detailed genetic and clinical analysis of different cases with congenital contractures of limbs are presented in this study. Our work proved that contracture deformities of limbs due to genetic causes were the most common [44 cases], while those related to environmental causes were only present in 2 cases. This emphasizes the importance of careful clinical examination and categorization o patients with congenital contracture! of limbs and the necessity of proper genetic counseling of affected families. The study of the molecular causes of these disorders is important for the understanding of the pathogenesis hoping for their prevention, early intervention and gene therapy

Comparison between isolated ectrodactyly and split hand / split foot as a part of syndromes: Clinical and orodental studies

Ectrodactyly is a developmental disorder that describes the partial or total absence of distal segments of the hand with the proximal segments more or less normal. The malformation can occur either isolated or associated with other systemic anomalies as a part of syndromes. Split hand/ split foot malformation [SHFM], associated with syndactyly of digits on both sides of the deficiency, is a longitudinal axial reduction defect, which is also either isolated or as a part of syndromes. This study included 2 patients with isolated ectrodactyly and 6 cases with split hand/split foot as a part of 2 syndromes; 5 of which were consistent with the ectrodactyly, ectodermal dysplasia, cleft lip and palate syndrome [EEC syndrome] and 1 female patient with ectrodactyly, ectodermal dysplasia, macular dystrophy syndrome [EEM syndrome]. Pedigree analysis, detailed physical examination, orodental studies and X-ray examination of hands, feet and teeth were done for all cases. Complete eye evaluation, hearing assessment and pelvi-abdominal ultrasound were carried out for syndromic cases. Chromosomal analysis was done for all patients. Our results showed that the 2 isolated cases with ectrodactyly were unilateral and sporadic with some evidence of multifactorial etiology. Cases with EEC syndrome showed variable degrees of SHFM, manifestations of ectodermal dysplasia in the form of sparse hair, eyebrows and eye lashes, microdontia, dysplastic nails and dry skin in addition to cleft lip and palate. Other orodental features included enamel hypoplasia, xeroderma and tooth decay. Lacrimal duct obstruction, microphthalmia, anophthalmia, photophobia and conjunctivitis were evident ocular manifestations in some cases. All our patients were sporadic with high paternal age in two cases suggesting dominant mutation. In our patient with EEM syndrome macular dystrophy was present in association with ectrodactyly and ectodermal dysplasia in the form of fair sparse hair and eyebrows as well as an albinoid fundus. Being the offspring of consanguineous young parents confirmed the autosomal recessive pattern of inheritance in the EEM syndrome. Chromosomal studies were normal in all studied cases. This study clarifies the importance of meticulous examination of patients with reduction defects and their family members and the search for associated anomalies in order to reach a proper diagnosis and provide accurate genetic counseling. For proper genetic counseling it is also important to clarify the terminology of ectrodactyly as an isolated defect and to differentiate between this sporadic digital anomaly and the inherited split hand/split foot either as an isolated defect or as a part of syndromes

Anophthalmia/microphthalmia: clinical, ophthalmological and imaging findings

This study described the craniofacial anomalies in correlation with ocular, intracranial, cytogenetic and electro- physiological findings in children with anophthalmia/microphthalmia. Twenty cases with congenital anophthalmia/microphthalmia [11 males, 9 females with age range from 8 days to 9.5 years] were examined. Seventeen cases had bilateral clinical anophthalmia/microphthalmia, while three cases had unilateral microphthalmia/anophthalmia. Patients with clinical anophthalmos/microphthalmia had associated congenital brain malformations [10/20 patients, 50%], genital anomalies [6/20, 30%] and major congenital orodental abnormalities [2/18 patients, 11.1%]. Eight cases of 11 with bilateral microphthalmia [72.7%] were reported to have bilateral congenital cataract. In addition, 6 cases [6/10, 60%] had abnormal visual evoked potentials [VEP] and electroretinogram [ERG]. The results presented the correlation between VEP and clinical, neuroimaging picture and/or the ophthalmological abnormalities. Eye defects are heterogeneous, since they were observed in clinical patterns with all modes of inheritance. Autosomal-recessive syndromes represent 55% of total syndromes, followed by syndromes of autosomal-dominant inheritance [15%], X- linked dominant [10%], chromosomal structural abnormalities [10%] and caused by environmental agents [10%]. Nevertheless, high rate of consanguinity [11 cases, 55%] with mean inbreeding coefficient of 0.0512 and the similarly affected sibs highlight the role of single gene disorder in the country. The contribution of electrophysiology of the eye, MRI of brain, cytogenetic and orodental examinations were useful for better determination of visual function and identification of potential underlying multisystem disease, subsequently, improving parental understanding and genetic counseling