Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.

Limb abnormalities are the second most frequent birth defects seen in infants, after congenital heart disease. Over the past 150 years, more than 50 classifications for limb malformations based on morphology and osseous anatomy have been presented. The goal of the current study is to investigate the genetic basis of congenital limb abnormalities in the Pakistani population.

A novel homozygous missense variant in causes cone dystrophy in a consanguineous Pakistani family.

Background: Cone dystrophy is a heterogeneous hereditary retinal disorder with disease symptoms appearing in the late first or early second decades of life.

Methods: A consanguineous Pakistani family with three affected individuals underwent detailed clinical and genetic investigation.

Results: The proband, a 63-years old male, showed severely reduced day vision, a visual acuity of counting fingers (CF), color vision deficiency, high myopia and photophobia.

Resurrected microorganisms: a plethora of resting bacteria underway for human interaction.

Glaciers, which form due to the accumulation of snow, play a crucial role in providing freshwater resources, supporting river systems, and maintaining ecosystem stability. Pakistan is habitat to over 5000 glaciers, primarily located in the Hindukash, Himalaya, and Karakoram mountain ranges. Understanding the microbial communities thriving in these extreme environments becomes of utmost importance.

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the underlying genetic etiology.

Recent developments on the removal of zinc from electric arc furnace dust by using microwave heating.

Electric arc furnace dust (EAFD) is a hazardous by-product of steel production. As global steel output increases, substantial amounts of EAFD are produced, which causes significant environmental issues. EAFD contains quantities of Fe and Zn, which could be reused as raw materials in the steelmaking process.

In Silico, In Vitro, and In Vivo Evaluation of Caffeine-Coated Nanoparticles as a Promising Therapeutic Avenue for AML through NF-Kappa B and TRAIL Pathways Modulation.

Background: Advancements in nanoscience have led to a profound paradigm shift in the therapeutic applications of medicinally important natural drugs. The goal of this research is to develop a nano-natural product for efficient cancer treatment.

Methods And Results: For this purpose, mesoporous silica nanoparticles (MSNPs) were formulated, characterized, and loaded with caffeine to develop a targeted drug delivery system, i.

Deep learning-based analysis of COVID-19 X-ray images: Incorporating clinical significance and assessing misinterpretation.

COVID-19, pneumonia, and tuberculosis have had a significant effect on recent global health. Since 2019, COVID-19 has been a major factor underlying the increase in respiratory-related terminal illness. Early-stage interpretation and identification of these diseases from X-ray images is essential to aid medical specialists in diagnosis.

A Novel Feature-Selection Algorithm in IoT Networks for Intrusion Detection.

The Internet of Things (IoT) and network-enabled smart devices are crucial to the digitally interconnected society of the present day. However, the increased reliance on IoT devices increases their susceptibility to malicious activities within network traffic, posing significant challenges to cybersecurity. As a result, both system administrators and end users are negatively affected by these malevolent behaviours.

A Computer-Aided Diagnostic System to Identify Diabetic Retinopathy, Utilizing a Modified Compact Convolutional Transformer and Low-Resolution Images to Reduce Computation Time.

Diabetic retinopathy (DR) is the foremost cause of blindness in people with diabetes worldwide, and early diagnosis is essential for effective treatment. Unfortunately, the present DR screening method requires the skill of ophthalmologists and is time-consuming. In this study, we present an automated system for DR severity classification employing the fine-tuned Compact Convolutional Transformer (CCT) model to overcome these issues.

Long-Term Use of Proton Pump Inhibitors Disrupts Intestinal Tight Junction Barrier and Exaggerates Experimental Colitis.

Background: Proton pump inhibitors [PPIs] are widely used to treat a number of gastro-oesophageal disorders. PPI-induced elevation in intragastric pH may alter gastrointestinal physiology. The tight junctions [TJs] residing at the apical intercellular contacts act as a paracellular barrier.

Cancerous Tumor Controlled Treatment Using Search Heuristic (GA)-Based Sliding Mode and Synergetic Controller.

Cancerous tumor cells divide uncontrollably, which results in either tumor or harm to the immune system of the body. Due to the destructive effects of chemotherapy, optimal medications are needed. Therefore, possible treatment methods should be controlled to maintain the constant/continuous dose for affecting the spreading of cancerous tumor cells.

Non-edible plant seeds of as a new and effective source for biofuel production.

Currently, the energy crisis is a hot topic for researchers because we are facing serious problems due to overpopulation and natural energy sources are vanishing day-by-day. To overcome the energy crisis, biofuel production from non-edible plant seeds is the best solution for the present era. In the present study, we select the non-edible seeds of for biofuel production from different areas of Pakistan with better oil production results.

In vitro efficacy of polymer coated miltefosine drug against leishmania tropica.

Polymer based nanoparticles for drug delivery is an alternative approach to overcome drug resistance and drug toxicity especially for cutaneous leishmaniasis treatment. The present study shows synthesis and characterization of Miltefosine loaded chitosan nanoparticles (MFS-CNPs). The synthesized MFS-CNPs were experimented to evaluate the in vitro cytotoxicity and efficacy of the synthesized drug loaded nanoparticles by hemolysis assay and 3-(4, 5- dimethylthiazol-2-yl)-2,5-diphenyletetrazolium bromide (MTT) assay.

Combined efficacy of Cinnamomum zeylanicum and doxorubicin against leukemia through regulation of TRAIL and NF-kappa B pathways in rat model.

Background: Recent discoveries in cancer therapeutics have proven combination therapies more effective than individual drugs. This study describes the efficacy of the combination of Cinnamomum zeylanicum and doxorubicin against benzene-induced leukemia.

Methods And Results: Brine shrimp assay was used to assess the cytotoxicity of C.

Optimization of Single α-Phase for Promoting Ferromagnetic Properties of 44Fe-28Cr-22Co-3Mo-1Ti-2V Permanent Magnet with Varying Co Concentration for Energy Storage.

The thermal stability and structural, microstructural and magnetic properties of (40 + x) Fe-28Cr-(26 - x) Co-3Mo-1Ti-2V magnets with x = 0, 2, 4 addition in cobalt content were investigated and presented. The magnetic alloys were synthesized by vacuum arc melting and casting technique in a controlled argon atmosphere. Magnetic properties in the alloys were convinced by single-step isothermal field treatment and subsequent aging.

sp. nov., isolated from an arid soil in Pakistan.

Strain NCCP-691 was isolated from a soil sample collected from an arid soil in Karak, Khyber Pakhtunkhwa, Pakistan. Phenotypically, the cells were Gram-stain-negative, aerobic and motile rods. The organism was able to grow between 20-40 °C (optimum at 30-37 °C), at pH 5.

A review of COVID-19: Treatment strategies and CRISPR/Cas9 gene editing technology approaches to the coronavirus disease.

The new coronavirus SARS-CoV-2 pandemic has put the world on lockdown for the first time in decades. This has wreaked havoc on the global economy, put additional burden on local and global public health resources, and, most importantly, jeopardised human health. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats, and the CRISPR associated (Cas) protein (CRISPR/Cas) was identified to have structures in E.

Monitoring System-Based Flying IoT in Public Health and Sports Using Ant-Enabled Energy-Aware Routing.

In recent decades, the Internet of flying networks has made significant progress. Several aerial vehicles communicate with one another to form flying ad hoc networks. Unmanned aerial vehicles perform a wide range of tasks that make life easier for humans.

The anti-tumor effects of the combination of microwave hyperthermia and lobaplatin against breast cancer cells in vitro and in vivo.

Background: Breast cancer is the main lethal disease among females. The combination of lobaplatin and microwave hyperthermia plays a crucial role in several kinds of cancer in the clinic, but its possible mechanism in breast cancer has remained indistinct.

Methods: Mouse models were used to detect breast cancer progression.

Zafaria cholistanensis gen. nov. sp. nov., a moderately thermotolerant and halotolerant actinobacterium isolated from Cholistan desert soil of Pakistan.

A Gram-staining positive, non-spore forming, non-pigmented and non-motile bacterium, designated strain NCCP-1664, was isolated from Cholistan desert, Pakistan. Cells of strain NCCP-1664 were strictly aerobic, catalase positive and oxidase negative with a rod to coccus growth cycle and can grow at pH 6.0-9.

Fever-range hyperthermia promotes cGAS-STING pathway and synergizes DMXAA-induced antiviral immunity.

Fever-range hyperthermia or fever-range temperature (hereafter FRT) improves survival and shortens disease duration in microbial infections. However, the mechanisms of these beneficial effects still remain elusive. We hypothesized that FRT might enhance cell responsiveness to infections by promoting cGAS-STING signaling to cause enhanced production of IFN-β.

Antimicrobial and antioxidant chlorinated azaphilones from mangrove sp. isolated from the stem of Chinese mangrove .

Many plants remain unexplored for their endophytic fungi that may possess potentially important phytochemicals. Consequently, we have focused to discover new natural products from endophytic fungus sp. isolated from the stem of the Chinese mangrove Pierre plant that led to the isolation of one new chlorinated () along with six known azaphilones ().