Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Dwarfism is a medical term used to describe individuals with a height-vertex measurement that falls below two standard deviations (-2SD) or the third percentile for their gender and age. Normal development of growth is a complicated dynamic procedure that depends upon the coordination of different aspects involving diet, genetics, and biological aspects like hormones in equilibrium. Any severe or acute pathologic procedure may disturb the individual's normal rate of growth. In this research, we examined four (A-D) Pakistani consanguineous families that exhibited syndromic dwarfism, which was inherited in an autosomal recessive pattern. The genomic DNA of each family member was extracted by using phenol-chloroform and Kit methods. Whole Exome Sequencing (WES) of affected family members (IV-11, III-5, IV-4 and III-13) from each group was performed at the Department of Medical Genetics, University of Antwerp, Belgium. After filtering the exome data, the mutations in PPM1F, FGFR3, ERCC2, and PCNT genes were determined by Sanger sequencing of each gene by using specific primers. Afterward, FGFR3 was found to be a suitable drug target among all the mutations to treat achondroplasia also known as disproportionate dwarfism. BioSolveIT softwares were used to discover the lead active inhibitory molecule against FGFR3. This research will not only provide short knowledge to the concerned pediatricians, researchers, and family physicians for the preliminary assessment and management of the disorder but also provide a lead inhibitor for the treatment of disproportionate dwarfism.Communicated by Ramaswamy H. Sarma.

Efficacy Of Prophylactic Intrawound Application Of Vancomycin Powder In Preventing Surgical Site Infections In Spinal Instrumentation Surgery.

BACKGROUND: Surgical site infection (SSI) is always a matter of utmost concern in cases of spinal instrumentation in low-income countries. This study was conducted to determine the efficacy of local intrawound application of vancomycin powder in reducing postoperative SSI following Thoracolumbar-Sacral spinal instrumentation. METHODS: This randomized controlled trial was done in the Department of Neurosurgery, Ayub Teaching Hospital Abbottabad from 1st July 2019 to 31st December 2021. Seventy-eight patients of either gender with an age range from 15 to 65 years, who were planned for posterior spinal instrumentation surgery (transpedicular screw fixation), were included in the study. Patients were divided into two equal groups, A (Vanco group) and B (control group). In addition to standard systemic prophylaxis, 1 gm of Vancomycin powder was applied over the implant in Group A patients. RESULTS: The mean age of the patients in Group A was 36±16.6 while the mean age of patients in the group was 33.7±15.9 years. A statistically significant reduction of surgical site infection was observed in those who received a prophylactic intra-wound application of vancomycin powder (Vanco group) (5.2%) compared to the control group (20.5%). CONCLUSIONS: Intrawound vancomycin powder administration significantly decreases SSI following spinal instrumentation surgeries. Patients at high risk of infection are highly recommended as a candidate for this technique.

Association study of six candidate genes with major depressive disorder in the North-Western population of Pakistan.

People around the world are currently affected by Major Depressive Disorder (MDD). Despite its many aspects, symptoms, manifestations and impacts, efforts have been made to identify the root causes of the disorder. In particular, genetic studies have concentrated on identifying candidate genes for MDD and exploring associations between these genes and some specific group of individuals. The aim of this research was to find out the association between single nucleotide polymorphisms in 6 candidate genes linked to the neurobiology of major depressive disorder in the North-Western population of Pakistan. We performed a case-control analysis, with 400 MDD and 232 controls. A trained psychiatrist or clinical psychologists evaluated the patients. Six polymorphisms were genotyped and tested for allele and genotype association with MDD. There were no statistical variations between MDD patients and healthy controls for genotypic and allelic distribution of all the polymorphisms observed. Thus, our analysis does not support the major role of these polymorphisms in contributing to MDD susceptibility, although it does not preclude minor impact. The statistically significant correlation between six polymorphisms and major depressive disorder in the studied population was not observed. There are inconsistencies in investigations around the world. Future research, including GWAS and association analysis on larger scale should be addressed for further validation and replication of the present findings.

Compressed medical imaging based on average sparsity model and reweighted analysis of multiple basis pursuit.

In medical imaging and applications, efficient image sampling and transfer are some of the key fields of research. The compressed sensing (CS) theory has shown that such compression can be performed during the data retrieval process and that the uncompressed image can be retrieved using a computationally flexible optimization method. The objective of this study is to propose compressed medical imaging for a different type of medical images, based on the combination of the average sparsity model and reweighted analysis of multiple basis pursuit (M-BP) reconstruction methods, referred to as multiple basis reweighted analysis (M-BRA). The proposed algorithm includes the joint multiple sparsity averaging to improves the signal sparsity in M-BP. In this study, four types of medical images are opted to fill the gap of lacking a detailed analysis of M-BRA in medical images. The medical dataset consists of magnetic resonance imaging (MRI) data, computed tomography (CT) data, colonoscopy data, and endoscopy data. Employing the proposed approach, a signal-to-noise ratio (SNR) of 30 dB was achieved for MRI data on a sampling ratio of M/N=0.3. SNR of 34, 30, and 34 dB are corresponding to CT, colonoscopy, and endoscopy data on the same sampling ratio of M/N=0.15. The proposed M-BRA performance indicates the potential for compressed medical imaging analysis with high reconstruction image quality.

A survey on contemporary computer-aided tumor, polyp, and ulcer detection methods in wireless capsule endoscopy imaging.

Wireless capsule endoscopy (WCE) is a process in which a patient swallows a camera-embedded pill-shaped device that passes through the gastrointestinal (GI) tract, captures and transmits images to an external receiver. WCE devices are considered as a replacement of conventional endoscopy methods which are usually painful and distressful for the patients. WCE devices produce over 60,000 images typically during their course of operation inside the GI tract. These images need to be examined by expert physicians who attempt to identify frames that contain inflammation/disease. It can be hectic for a physician to go through such a large number of frames, hence computer-aided detection methods are considered an efficient alternative. Various anomalies can take place in the GI tract of a human being but the most important and common ones and the aim of this survey are ulcers, polyps, and tumors. In this paper, we have presented a survey of contemporary computer-aided detection methods that take WCE images as input and classify those images in a diseased/abnormal or disease-free/normal image. We have considered methods that detect tumors, polyps and ulcers, as these three diseases lie in the same category. Furthermore, general abnormalities and bleeding inside the GI tract may be the symptoms of these diseases; so an attempt is also made to enlighten the research work done for abnormalities and bleeding detection inside WCE images. Several studies have been included with in-depth detail of their methodologies, findings, and conclusions. Also, we have attempted to classify these methods based on their technical aspects. A formal discussion and comparison of recent review articles are also provided to have a benchmark for the presented survey mentioning their limitations. This paper also includes a proposed classification approach where a cascade approach of neural networks is presented for the classification of tumor, polyp, and ulcer jointly along with data set specifications and results.