FGFR Gene Mutation and Pfeiffer Syndrome

Abstract

Pfeiffer syndrome is a genetic disease caused by a defect in the FGFR-1 or FGFR-2 genes. This syndrome affects the skeleton, whether it is a protrusion of the skull bone or problems in the limbs. Not only this, but also affects the eyes, leading to their protrusion, in addition to the possibility of hydrocephalus, and internal viscera imbalance. There are 3 types of the syndrome classified according to the clinical examination of the case, where the symptoms range from mild to severe, which requires surgical intervention. It is easy to diagnose the fetus early through ultrasound examination, which shows ossification in the bones of the skull and deformities of the fingers. The incidence of Pfeiffer syndrome is limited, as it affects one child in 100,000 cases. Genetic testing facilitates early diagnosis and thus helps in rapid treatment and prevention of deterioration of the condition.

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Cell Proliferation from the Assembly of Synthetic DNA (E. Coli) Crown Cells with Stimulation by Monolaurin Twice

 Abstract

DNA crown cells (artificial cells), in which the outside of the membrane is covered with DNA, can be readily synthesized in vitro using sphingosine (Sph)-DNA-adenosine mixtures to produce synthetic DNA crown cells. As these DNA crown cells can proliferate within egg whites, many kinds of synthetic DNA crown cells and DNA crown cells can be prepared using DNA from a variety of donors. Though the methods for synthesis are well established, how synthetic DNA crown cells are able to proliferate in egg whites remain unclear. Previous studies have demonstrated that assemblies of synthetic DNA (E. coli) crown cells were formed in response to the inorganic substances contained in egg white, and that modified synthetic DNA crown cells were produced within such assemblies. Moreover, the cells in these assemblies were not released after the addition of monolaurin. Rather, the assembly formed crystal-like substances and the cells disappeared. In the present study, it was examined whether cells were regenerated with two monolaurin treatments. Here, it was described that cells were produced from the assembly of synthetic DNA (E. coli) crown cells which form crystal-like substances with stimulation by monolaurin twice. The cell proliferation experiments were carried out as follows:

a) Synthetic DNA (E. coli) crown cells were incubated for 18 hours at 37℃ and these cells formed assemblies.

b)Monolaurin was added to the assemblies and the mixtures were incubated for 36 hours at 37℃.

c) The assemblies then transformed into crystal-like substances.

d)Monolaurin was added to these reconstructed synthetic DNA (E. coli) crown cells and the mixtures were incubated for 20–40 minutes at 37℃, which is when cell proliferation was observed.

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Prevalence of Hypothyroidism in Ischemic Heart Disease

Abstract

Cardiovascular diseases affect younger population in developing countries like India and carry a higher mortality rate. Common risk factors responsible for myocardial infarction in India are dyslipidemia, smoking, hypertension, diabetes, abdominal obesity, physical inactivity, low fruits and vegetables intake, and psychosocial stress. Other risk factors account for lesser number of cases, one such risk factor being hypothyroidism. A retrospective study was done using hospital records who were admitted with the diagnosis of acute coronary syndrome during the period January 2021 to February 2022 Department of Cardiology , Bangabandhu Sheikh Mujib Medical University (BSMMU) Dhaka, Bangladesh. A total number of 326 patients were admitted with acute coronary syndrome, out of these patients 93 (28.53%) were screened with thyroid profile(male 30, female 63). Female patients were more likely to be screened with thyroid profile than male patients (p value <0.0001). 17.2% (16) of the patients had thyroid abnormality. Three female patients had subclinical hypothyroidism. Four male and nine female patients had ‘low T3 syndrome’. Of the 93 patients there were 7 deaths (7.5%). In the low T3 group the mortality was 38.5%. The mortality in the low T3 group was significantly higher and statistically significant (p value 0.0062), compared to euthyroid subjects. The study highlights the fact that low T3 syndrome in patients with acute coronary syndrome (NSTEMI and STEMI) acts has a poor prognosis factor. The study also highlights to the fact that, screening is less commonly utilized in patients with acute coronary syndrome.

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Features of Low-Temperature Microwave Processing of Tobacco

Abstract

The paper outlined an effective method for curing tobacco, which includes the combined action of a microwave electromagnetic field and light with a wavelength of 400-700nm. The developed method made it possible to obtain tobacco material with high taste and moderate speed. The high efficiency of the proposed method has been proven by IR and X-ray photoelectron spectroscopy.

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Analysis of the Microbial Structure in Daqu for the Main Types of Chinese Baijiu

Abstract

This investigation undertook a systematic analysis of the microbial structure of six kinds of daqu from different types of Chinese baijiu. From the results, it was noted that the prokaryotic microbial species present in daqu were much more complex than the eukaryotic microorganisms, but the number of eukaryotic microorganisms was greater than that of prokaryotic microbes. The investigation identified 8 phyla, 74 classes, 130 orders, 203 families, and 255 genera for eukaryotic microbes and 11 phyla, 74 classes, 116 orders, 411 families, and 473 genera for prokaryotic microorganisms. The main eukaryotic microbe in daqu was Ascomycota, followed by Basidiomycota; Ascomycota species are mainly moulds and yeasts, and they play a major role in of baijiu fermentation. The main prokaryotic microorganism in daqu was Firmicutes, followed by Actinobacteria, Proteobacteria, Bacteroidetes, Euryarchaeota and Planctomycetaceae. The number of eukaryotic microbes OTUs were ranked in the order Nongxiang> Zhima-xiang>Qing-xiang>Feng-xiang>Chi-xiang>Jiang-xiang, and the abundance values were ranked in the order Qingxiang> Nong-xiang>Jiang-xiang>Zhima-xiang>Chi-xiang. The number of prokaryotic microorganisms OTUs were ranked in the order Qing-xiang>Nong-xiang>Zhima-xiang>Feng-xiang>Chi-xiang>Jiang-xiang, and the abundance values were ranked in the order Qing-xiang>Nong-xiang>Zhima-xiang>Feng-xiang>Chi-xiang>Jiang-xiang.

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Nutritional Genomics - An Overview of CRISPR/Cas9 Genome Editing System on Nutraceuticals

 Abstract

Nutraceuticals have gained popularity for supplemental health benefits and for the ability to complement pharmaceuticals to prevent, delay, and manage chronic disease. The development of nutraceuticals involves the use of genome editing technology such as the newly developed CRISPR/Cas9 system, a novel and powerful method to knock out, knock-in, upregulate, and downregulate genes, including genes that can improve the nutritional profile of a plant as well as increase the production of nutraceuticals. Nutraceuticals, such as those implicated in aging, life expectancy, and chronic diseases can now be developed using CRISPR/Cas9. Establishing a CRISPR-based system to develop nutraceuticals and improve human health will benefit society.

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Review of Bone Scan in Staging of Breast Cancer Patients (Milton Keynes University Teaching Hospital NHS Trust 2020-2021)

Abstract

We conducted a review of the Milton Keynes University Teaching Hospital NHS Trust’s modality of staging breast cancer to assess compliance with the Royal College of Radiology (RCR) guidelines in the use of bone scan for breast cancer staging. We noticed that a bone scan was required for all breast cancer patients, most of whom did not meet the RCR criteria for a bone scan. We found that a bone scan done on all 89 breast cancer patients seen from June 2020 to May 2021 was ineffective in confirming all cases with bone metastasis, hence not contributing to management and outcomes. We recommend that bone scans should not be routinely done on breast cancer patients, as it is not cost-effective and cost-saving.

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