Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition in which significant fetal hemoglobin production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced. The percentage of incorrect expression might be as low as 10%–15% or as high as 100% of the total hemoglobin, usually higher in homozygotes than in heterozygotes. The present case is a typical example of homozygous HPFH.
Background: Transfusion of blood /component is an essential procedure in modern days of medical practice. As far as safe transfusion is concerned, it is a prime requirement i.e. handles TTIs infections including syphilis and other adverse events. Aims and Objectives: Focus of the present study is to assess seroprevalence and risk factors of Syphilis among blood donors in greater Gwalior Materials and Methods: The present retrospective descriptive study was conducted over a period of 8 years. All the samples of voluntary and relative blood donors, who came to donate blood, were tested for transfusion transmissible infections. Prevalence of TTIs and syphilis were analyzed in the view of different parameters of donors and along with its associated risk factors. Chi square (X2) test was applied to know the significant (p value) ratio of difference statistically as required. Results: In the present study prevalence of TTIs is 3.44% and for syphilis it is 0.268%, most common age group is 40-51years (41.18%); male to female ratio is insignificant statistically. Ratio of voluntary versus relative donors was 94.21% and 5.79 % and male to female was 91.27% and 8.473% were female respectively. Conclusion: An advance knowledge, attitude, and behavior of the volunteer blood donors’ population regarding risk factors will most probably improve public health and increase blood safety and quality.
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities. Such presentation warrants prompt diagnosis for effective management. Furthermore, genetic counseling for such patients and their families should be considered as a part of treatment itself.
Alzheimer’s disease (AD) is the most common cause of dementia associated with a progressive neurodegenerative disorder, with a prevalence of 44 million people throughout the world in 2015, and this figure is estimated to double by 2050. This disease is characterized by blood-brain barrier disruption, oxidative stress, mitochondrial impairment, neuroinflammation, and hypometabolism; it is related to amyloid-β peptide accumulation and tau hyperphosphorylation as well as a decrease in acetylcholine levels and a reduction of cerebral blood flow. Studies of potential disease-modifying therapy have generally been undertaken in patients with clinically detectable disease, yet evidence suggests that the pathological changes associated with AD begin several years before this. It is possible that pharmacological therapy may be beneficial in this pre-clinical stage before the neurodegenerative process is established. Techniques providing earlier diagnosis, such as cerebrospinal fluid biomarkers and amyloid positron emission tomography neuroimaging, are key to testing this theory in clinical trials. Recent results from trials of agents such as aducanumab are encouraging but must also be interpreted with caution. Such medicines could potentially delay the onset of dementia and would therefore markedly reduce its prevalence.
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