Neonatal strokes constitute a major cause of pediatric mortality and morbidity. Neuroimaging helps in its diagnosis as well as prognostication. However, advanced imaging, including magnetic resonance ...imaging (MRI), carries multiple challenges. Limited data exists in the literature on imaging-based predictors of neurological outcomes in neonatal stroke in the Indian population. In this study, we reviewed our available data on neonatal stroke patients between 2015 and 2020 for clinico-radiological patterns. During this period, 17 neonatal strokes were admitted and the majority were term births with a slight male preponderance. Seizures and encephalopathy were the most common presentation. Multiple maternal risk factors such as gestational diabetes, meconium-stained liquor, APLA syndrome, fever, deranged coagulation profile, oligohydramnios, cord prolapse, and non-progressive labor were seen. Cardiac abnormalities were seen in only less than half of these patients with the most common finding being atrial septal defects (ASD). Transcranial ultrasound was performed in eight neonates and the pick-up rate of ultrasound was poor. MR imaging showed large infarcts in 11 patients. The MCA territory was most commonly involved. Interestingly, five neonates had venous thrombosis with three showing it in addition to arterial thrombosis. Associated ictal, as well as Wallerian changes, were noted in 10. Although large territorial infarcts were the most common pattern, non-contrast MR angiography did not show major vessel occlusion in these cases. Outcomes were fairly good and only three patients had a residual motor deficit at 1 year. No recurrence of stroke was seen in any of the neonates.
Parkinson's disease (PD) is a pathological condition characterized by the aggregation and the resultant presence of intraneuronal inclusions termed Lewy bodies (LBs) and Lewy neurites which are ...mainly composed of fibrillar α-synuclein (α-syn) protein. Pathogenic aggregation of α-syn is identified as the major cause of LBs deposition. Several mutations in α-syn showing varied aggregation kinetics in comparison to the wild type (WT) α-syn are reported in PD (A30P, E46K, H 50Q, G51D, A53E, and A53T). Also, the cell-to-cell spread of pathological α-syn plays a significant role in PD development. Interestingly, it has also been suggested that the pathology of PD may begin in the gastrointestinal tract and spread via the vagus nerve (VN) to brain proposing the gut-brain axis of α-syn pathology in PD. Despite multiple efforts, the behavior and functions of this protein in normal and pathological states (specifically in PD) is far from understood. Furthermore, the etiological factors responsible for triggering aggregation of this protein remain elusive. This review is an attempt to collate and present latest information on α-syn in relation to its structure, biochemistry and biophysics of aggregation in PD. Current advances in therapeutic efforts toward clearing the pathogenic α-syn via autophagy/lysosomal flux are also reviewed and reported.
Objective: Comparative evaluation of the location of mental foramen in different age groups. Determine the variation in position of mental foramen with gender using digital panoramic radiography. ...Materials and Methods: Digital panoramic radiographs of 250 patients were reviewed. The study population was divided into five age groups with 50 patients each. Radiographic position of mental foramen was evaluated in each radiograph based on three parameters. Measurements were taken in each radiograph using Planmeca Dimaxis pro version 4.4.0 (Helsinki, Finland). The collected data were subjected to statistical analysis using paired Student's t-test. Results: The mean distance of position of mental foramen showed a significant variation within the five age groups. In the first group, female patients showed an increase in mean distance of mental foramen position in relation to three parameters. From the second to fifth groups, male patient showed an increase in the mean distance of mental foramen position. The first and fifth group showed a reduced mean distance of mental foramen position when compared to other age groups. Conclusion: This study concluded that the position of mental foramen varies with age. There was a gender-related variation in position of mental foramen within the population too.
Objective
To study the impact of wholesome mid day meal (MDM) program run by an NGO on the growth of the primary school students in rural area of Mathura district.
Methods
This intervention study ...involved children enrolled in Government run rural primary schools in Mathura district in Uttar Pradesh from March 06 through August 07. A wholesome, nutritionally balanced MDM provided by an NGO for the students in the 6 primary schools was selected as intervention group. Control group consisted of children in 8 schools which received locally prepared MDM by village panchayats. Height, weight, change in height/month, change in weight/month, prevalence of protein-energy malnutrition and prevalence of signs of vitamin deficiencies, were measured.
Results
Food was provided for 221 days in one year. Within group and between groups repetitive measures were compared using generalized estimating equation (GEE). Within both intervention and control groups height and weight had significantly increased (p < 0.05), while there was no significant difference between the groups. There was no change in prevalence of malnutrition within either of the groups. Reduction in vitamin A deficiency signs was 38% more in intervention group (p < 0.001). Prevalence of Vitamin D deficiency reduced by 50% more in intervention group. No such differences between groups were observed for vitamin B complex and vitamin C.
Conclusions
MDM provided by the NGO has no better impact on growth of the primary school children, however, it reduced prevalence of vitamin deficiency significantly in comparison to the MDM run by Village Panchayats.
Background and Objective We looked at the two most commonly used methods for prenatal diagnosis, cordocentesis and chorionic villus sampling for prenatal diagnosis of haemophilia A in an Indian ...setting.
Material and Methods The study sample included 16 families which reported to us for prenatal diagnosis of haemophilia A at All India Institute of Medical Science, New Delhi, India. Prenatal tests were done on chorionic villus samples or on cord blood (cordocentesis). Molecular work‐up included the use of indirect mutation analysis in the form of linkage markers like CA‐13, CA‐22, Xba1 and Bcl1 as well as direct mutation analysis in the form of inversion 1 and 22 detection. Non‐molecular work‐up included primarily factor VIII assays.
Result Chorionic villus sampling was performed in eight mothers. Of the other eight mothers, six underwent cord blood factor VIII assays because these had absence of family history and were negative for linkage and inversion 1 and 22. One patient had a female child and another had a fetus that showed congenital abnormalities.
Conclusion We found that the choice of either technique, chorionic villus or cordocentesis, is not really an alternative, but rather dependent on the gestational age of presentation.
Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of ...androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion mutation in exon 6 (c.2762 del C), a substitution mutation (c.2925 C>T), and a novel splice donor site mutation (IVS5+1 g>a; exon 5/intron 5). The proband's (case VA156) mother and one of the sisters were heterozygous for the novel splice donor site mutation while the father was normal. Review of literature suggested that an alternate spice donor site could be utilized leading to an aberrant splicing resulting in a truncated receptor. This could not be validated further through reverse transcriptase-polymerase chain reaction as the patient failed to cooperate for follow-up. Of the 16 spice site variations reported in various ethnic groups, this is a novel variation in the AR gene to be associated with Androgen Insensitivity Syndrome. The proband's sister, noted to be a heterozygous carrier, has high risk of having XY female progeny; hence prenatal screening of the mutation in case of an XY fetus is recommended.
ORIGINAL PAPER Ranjan, R; Biswas, A; Kannan, M ...
Vox sanguinis,
01/2007, Letnik:
92, Številka:
1
Journal Article
Recenzirano
We looked at the two most commonly used methods for prenatal diagnosis, cordocentesis and chorionic villus sampling for prenatal diagnosis of haemophilia A in an Indian setting. The study sample ...included 16 families which reported to us for prenatal diagnosis of haemophilia A at All India Institute of Medical Science, New Delhi, India. Prenatal tests were done on chorionic villus samples or on cord blood (cordocentesis). Molecular work-up included the use of indirect mutation analysis in the form of linkage markers like CA-13, CA-22, Xba 1 and Bcl 1 as well as direct mutation analysis in the form of inversion 1 and 22 detection. Non-molecular work-up included primarily factor VIII assays. Chorionic villus sampling was performed in eight mothers. Of the other eight mothers, six underwent cord blood factor VIII assays because these had absence of family history and were negative for linkage and inversion 1 and 22. One patient had a female child and another had a fetus that showed congenital abnormalities. We found that the choice of either technique, chorionic villus or cordocentesis, is not really an alternative, but rather dependent on the gestational age of presentation. PUBLICATION ABSTRACT
The formation of homodimer complexes for interface stability, catalysis and regulation is intriguing. The mechanisms of homodimer complexations are even more interesting. Some homodimers form without ...intermediates (two-state (2S)) and others through the formation of stable intermediates (three-state (3S)). Here, we analyze 41 homodimer (25 2S and 16 3S) structures determined by X-ray crystallography to estimate structural differences between them. The analysis suggests that a combination of structural properties such as monomer length, subunit interface area, ratio of interface to interior hydrophobicity can predominately distinguish 2S and 3S homodimers. These findings are useful in the prediction of homodimer folding and binding mechanisms using structural data.
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