Genotype-Phenotype Heterogeneity in Haemophilia

Haemophilia was previously regarded as a classical example of Mendelian inheritance, with mutation in only a single gene (F8 or F9) causing the disease phenotype. The disease manifests complete penetrance. Studies, however, revealed the striking genetic and phenotypic heterogeneities of the disease. With further sophistication of clinical and molecular techniques, the disease was also found to have allele heterogeneity, phenotypic plasticity and variation in expressivity. The variations are more pronounced in F9 variants with five distinct phenotypes. All these phenomena advocate a rather complex genotype-phenotype relationship for the disease. A keen insight into the matter may unveil new avenues of therapeutics

Preparation and Physical Properties of Functional Barium Carbonate Nanostructures by a Facile Composite-Hydroxide-Mediated Route

In recent years, nanotechnology has given birth to numerous nanomaterials due to their increased use in various sectors of research and development. To produce these nanomaterials, nanotechnology further has opened several rooms for the potential novel methods. Composite-hydroxide-mediated (CHM) method is one of the recent chemical synthesis routes that have gained considerable importance in research due to their effortlessness and versatile nature, covering a broad range of nanomaterials to prepare

Synthesis and doping feasibility of composite-hydroxide-mediated approach for the Cu1-xZnxO nanomaterials

In this article, we report feasibility of composite hydroxide-mediated (CHM) approach for the synthesis and doping of Cu1-xZnxO (x=0%, 3%, 6% and 9%) nanomaterial. The proposed method offers a low cost, low temperature and environmentally friendly approach to preparing doped nanomaterials in a feasible and cost- effective route. Further, we investigate the effect of incorporated Zn +2 on the properties of produced Cu (II) O nanostructures. The X-ray diffraction analysis confirms formation of the single-phase monoclinic Cu (II) O and incorporation of Zn at the Cu-lattice sites. The crystalline structure is improved and the average grain size has increased from 85.32 nm to 124.86 nm. FTIR spectroscopy shows characteristic vibrational peaks of the Cu (II)-O bonding which confirms formation of the Cu (II) O. SEM micrographs reveal interesting flower like dense features with morphological peculiarities and seems to strongly depend on the content of the incorporated Zn +2 . The UV- visible spectra are measured to study the direct bandgap of the prepared nanomaterial. The direct bandgap found to be in the range of 3.73 - 3.89 eV. The method seems experimentally friendly and provides a feasible and a high productive fast synthesis route for the doped oxide nanomaterials in a single step with tunable properties for the research purposes. However, the method still requires further investigation to finely control doping for the desired properties of a nanomaterial and to give a potential avenue for further practical scale-up of the production process and applications of novel devices based on doped nanostructures

What’s new in laser based nanofabrication for the fast uptake in industrial application

Laser based efficient new nanofabrication methods with technical feasibility for the fast uptake in industrial application are of significant global demand. A recent simplest approach in this way is the standard pulsed laser deposition (PLD), used since 1960s after the development of high power lasers. Over all, PLD is a fit method towards the preparation of a variety of nanomaterials only for research purpose. Nevertheless, the method is relatively slow and could not adopted in industrial scale application. A recent new-fangled development in this direction is the atmospheric-PLD (APLD), where ablation of the target by a laser pulse occurs at atmospheric gas pressure and the ablated material is delivered to the substrate using a flowing medium such as gas or atmospheric plasma. With this method, a variety of nanomaterials such as plasmonic metal NP film could be produced for practical a

Intuitionistic fuzzy interior ideal of semigroup based on intuitionistic fuzzy point

The intuitionistic fuzzification of the notion of an interior ideal in ordered semigroups is considered. The purpose of this study is to introduce the notion of (∈, ∈ vq)-intuitionistic fuzzy interior ideals and (∈, ∈)-intuitionistic fuzzy nterior ideals of semigroups. The important milestone of the present paper is to link ordinary intuitionistic fuzzy interior ideals, (∈, ∈)-intuitionistic fuzzy interior ideals and (∈, ∈ vq)-intuitionistic fuzzy interior ideals. Moreover, semigroups are characterized by the properties of these new notions

Computation of Numerical Solution via Non-Standard Finite Difference Scheme

The recent COVID-19 pandemic has brought attention to the strategies of quarantine and other governmental measures, such as lockdown, media coverage on social isolation, strengthening of public safety, etc. All these strategies are because to manage the disease as there is no vaccine and appropriate medicine for treatment. The mathematical model can assist to determine whether these intervention options are the most effective ones for illness control and how they might impact the dynamics of the disease. Motivated by this, in this manuscript, a classical order nonlinear mathematical model has been proposed to analyze the pandemic COVID-19. The model has been analyzed numerically. The suggested mathematical model is classified into susceptible, exposed, recovered, and infected classes. The non-standard finite difference scheme (NSFDS) is used to achieve the approximate results for each compartment. The graphical presentations for various compartments of the systems that correspond to some real facts are given via MATLAB

Types and clinical presentation of stroke

Background: Stroke is one of the leading causes of mortality and morbidity worldwide. In this study, authors worked on clinical presentation and types of stroke. The two main types of strokes are ischemic and haemorrhagic. Brain infarction is caused by decrease blood flow due to either narrowing of artery or complete obstruction to blood flow owing to embolism. While haemorrhage is caused by rupture of artery or aneurysms leading to accumulation of blood in the brain parenchyma.Methods: Cross sectional study of group of patients in Nishtar hospital Multan, Pakistan who presented with variety of neurological symptoms who were subsequently diagnosed as non-traumatic stroke. All patients were subjected to a detailed history and thorough clinical examination and investigations after obtaining informed consent.Results: Of 122 patient, 66 patients were male and 56 were female. Ischemic stroke was more common: present in 76 patients as compared to 46 patients with hemorrhagic stroke. Hypertension was present in 40.9% of ischemic stroke and 27.8% of hemorrhagic strokes. Most of the patients (67.2%) had altered sensorium at presentation followed by hemiplegia in 39.3 % of patients.Conclusions: Prevalence of ischemic strokes is higher than that of haemorrhagic stroke. Hypertension is associated with both types of these strokes. Moreover, hyperglycaemia and high blood pressure are common in early phase of stroke. Vomiting in stroke favors haemorrhagic stroke

Detection of BCR-ABL kinase domain mutations in CD34+ cells from newly diagnosed chronic phase CML patients and their association with imatinib resistance

BCR-ABL kinase domain (KD) mutations, the most common cause of imatinib resistance, are infrequently detected in newly diagnosed chronic-phase chronic myeloid leukemia (CP-CML) patients. Recent studies indicate pre-existing mutations (PEMs) can be detected in a higher percentage of CML patients using CD34+ stem/progenitor cells, and these mutations may correlate with imatinib resistance. We investigated KD mutations in CD34+ stem cells from 100 CP-CML patients by multiplex ASO-PCR and sequencing ASO-PCR products at the time of diagnosis. PEMs were detected in 32/100 patients and included F311L, M351T, and T315I. After a median follow-up of 30 months (range 8-48), all patients with PEMs exhibited imatinib resistance. Of 68 patients without PEMs, 24 developed imatinib resistance. Mutations were detected in 21 of these patients by ASO-PCR and KD sequencing. All 32 patients with PEMs had the same mutations. In imatinib-resistant patients without PEMs, we detected F311L, M351T, Y253F, and T315I mutations. All imatinib-resistant patients without T315I and Y253F mutations responded to imatinib dose escalation. In conclusion, BCR-ABL PEMs can be detected in a substantial number of CP-CML patients when investigated using CD34+ stem/progenitor cells. These mutations are associated with imatinib resistance, and mutation testing using CD34+ cells may facilitate improved, patient-tailored treatment