Ellis-van Creveld syndrome: a case report.

Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare entity. It most commonly affects the tubular bones leading to dwarfism and a long trunk with ossification defects. Other presentations are wide hands and feet, dysplastic nails, thin hair, and cardiac malformations. An eight-year-old female patient presented to our tertiary care centre with complaints of short stature, abnormal dentition, and fatigue. The child's parents were first-degree relatives. On radiological imaging, it was revealed that the patient had postaxial polydactyly, short stature, and genu valgum deformity along with mild cardiomegaly. All these features were indicative of Ellis-van Creveld syndrome. EVC is a rare clinical syndrome with a distinctive clinical presentation. It requires comprehensive radiological investigations and the management is best done with a multidisciplinary approach.

Diagnostic accuracy of magnetic resonance imaging in detection of intra-axial gliomas.

OBJECTIVE: To evaluate the diagnostic accuracy of magnetic resonance imaging (MRI) in detection of intra-axial gliomas in suspected cases keeping histopathology as gold standard. METHODS: This cross-sectional study was conducted at Dow Institute of Radiology, DUHS from October 2017 - April 2018. Patients of either gender aged 30-70 years presenting with headache were included. Patients already diagnosed and referred for follow up were excluded. MRI was performed on 1.5T scanner by a trained MRI technician. T1, T2, FLAIR, diffusion weighted and T1 post contrast images were acquired and reviewed by two radiologists having more than five years post fellowship experience. Sensitivity, specificity, PPV, NPV and diagnostic accuracy of MRI for intraaxial gliomas was calculated taking histopathology findings as gold standard. RESULTS: Mean age of the patient`s was 51.71 ±10.85 years. Positive intraaxial gliomas on MRI were observed in 123 (79.90%) patients while on histopathology, positive intraaxial gliomas were observed in 131 (85.10%) patients. Diagnostic accuracy of MRI in detection of intra-axial gliomas taking histopathology findings as gold standard showed sensitivity, specificity, positive predicted value (PPV), negative predicted value (NPV) and overall diagnostic accuracy as 89.31%, 73.91%, 95.12%, 54.84% and 87.01%. CONCLUSIONS: MRI has high sensitivity, moderate specificity and high diagnostic accuracy in detection of intraaxial gliomas.

New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood.

We present a case of hereditary thrombotic thrombocytopenic purpura (hTTP) caused by a previously undescribed mutation in a 36-year-old woman who presented with seizures in the context of a possible infection. Her hematologic manifestations were mild, despite undetectable ADAMTS13 (A Distintegrin and Metalloproteinase with Thrombospondin Motifs 13) activity. Genetic analysis showed a homozygous variant in ADAMTS13 gene which was not previously reported but predicted to be associated with disease. She responded to plasma therapy. Her diagnosis subsequently led to the diagnosis of hTTP in her younger sibling who presented with unexplained strokes a few years earlier.

Diagnostic accuracy of ultrasound in evaluation of obstructive jaundice with MRCP as gold standard.

OBJECTIVE: To evaluate the diagnostic accuracy of ultrasound in obstructive jaundice taking MRCP as gold standard. METHODS: This cross-sectional study was conducted at Dow Institute of Radiology (DIR), Dow University of Health Sciences (DUHS), Karachi from 2nd May 2018 till 2nd November 2018. Both male and female patients aged 30 to 80 years with suspected obstructive jaundice were included. Patients already diagnosed with obstructive jaundice were excluded. MRCP and ultrasound were performed in suspected patients. Diagnostic accuracy including sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of obstructive jaundice were calculated using contingency tables using MRCP findings as gold standard. RESULTS: Mean age of the patients was 54.73 ± 12.65 years. In causes of obstruction, choledocholothiasis was responsible for 85 (35.1%), stricture 61 (25.2%), carcinoma of head of pancreas 39 (16.1%), periampullary carcinoma 21 (8.7%), cholangiocarcinoma 10 (4.1%) and gallbladder carcinoma 26 (10.7%) of the cases. Diagnostic accuracy of ultrasound in obstructive jaundice taking MRCP findings as gold standard showed sensitivity, specificity, positive predicted value (PPV), negative predicted value (NPV) and overall diagnostic accuracy as 84.57%, 79.10%, 91.36%, 66.25% and 83.06%. CONCLUSION: Ultrasound has a high sensitivity, moderate specificity, and high diagnostic accuracy in diagnosis of obstructive jaundice.

Dengue viral infections in Pakistan and other Asian countries: a comprehensive review.

Infections due to Dengue virus are widespread throughout the world. Disease starts with mild flu like sickness to a severe intricate condition which results in the death of the patient. Dengue illness has high morbidity and mortality in Pakistan as well as in other Asian countries. The Review article is a discourse analysis that explores the facts about the history, emergence and impact of dengue in Pakistan and other Asian countries. Data was collected from internet sources, mainly using Science Direct and PubMed. The final literature was reviewed and summarised. About 150 articles were identified and 47 articles were shortlisted for final review. Aedesaegypti was found to be a major vector for the transmission and spread of dengue illness. Treatment comprises supportive therapy as no specific treatment was available. During the last couple of years, the incidence of dengue fever was extraordinary in metropolitan cities of Pakistan.

Cross-reacting antiporcine factor VIII inhibitors in patients with acquired hemophilia A.

•Recombinant porcine factor VIII (rpFVIII) is a hemostatic treatment for bleeding in acquired hemophilia A.•The efficacy of rpFVIII can be negatively affected by cross-reacting anti-human FVIII antibodies.•In this cohort, 52% of patients with acquired hemophilia A had baseline cross-reacting antibodies.•Cross-reacting antibodies were associated with decreased FVIII activity levels post-rpFVIII infusion.

Structure, chemical modification, and functional applications of mucilage from Mimosa pudica seeds - A review.

Mimosa pudica (MP) is an ornamental plant due to seismonastic movements that close leaves and fall petioles in response to touch, wind, light, heat, cold, and vibration. The seeds of MP secrete smart, biocompatible, and non-toxic mucilage that has captivated researchers due to its widespread use in various fields such as pharmaceuticals and biotechnology. The mucilage is responsive to pH, salt solutions, and solvents and acts as a binder in tablet formulations for targeted drug delivery. The mucilage is chemically modifiable via acetylation, succinylation, and graft polymerization. Chemically modified MP mucilage appeared supersorbent for heavy metal ion uptake. Nanoparticles synthesized using mucilage as a reducing and capping agent displayed significant antimicrobial and wound-healing potential. Crosslinking of mucilage using citric acid as a crosslinking agent offers a sustained release of drugs. The present review is aimed to discuss extraction optimization, structure, modification, and the stimuli-responsive nature of mucilage. The review article will cover the potential of mucilage as emulsifying, suspending, bio-adhesive, gelling, and thickening agent. The role of mucilage as a capping and reducing agent for nanoparticles will also be discussed.

Robinow Syndrome: A Rare Diagnosis from Pakistan.

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Correction: Recent trends in ozone sensing technology.

Correction for 'Recent trends in ozone sensing technology' by Muhammad Mudassir Iqbal et al., Anal. Methods, 2023, 15, 2798-2822, https://doi.org/10.1039/D3AY00334E.

Recent trends in ozone sensing technology.

The harmful impact of ozone on humans and the environment makes the development of economical, accurate, and efficient ozone monitoring technologies necessary. Therefore, in the present review, we critically discuss developments in the methods for the synthesis of ozone sensing materials such as metal oxides (Ni, Co, Pd, In, Cu, Zn, Fe, Sn, W, Ti and Mo), carbon nanotubes, organic compounds, perovskites, and quartz. Additionally, the recent advancements and innovations in ozone technology will be discussed. In this review, we focus on assembling ozone-sensing devices and developing related wireless communication, data transferring, and analyzing technologies together with satellite, airborne, and ground-based novel ozone-sensing strategies for monitoring the atmosphere, urban areas, and working environments. Furthermore, the developments in ozone-monitoring miniaturized devices technology will be considered. The effects of different factors, such as spatial-temporal variation, humidity, and calibration, on ozone measurements will also be discussed. It is anticipated that this review will bridge the knowledge gaps among materials chemists, engineers, and industry.

Coagulation test understanding and ordering by medical trainees: Novel teaching approach.

Background: Coagulation testing provides a prime opportunity to make an impact on the reduction of unnecessary laboratory test ordering, as there are clear indications for testing. Despite the prothrombin time/international normalized ratio and activated partial thromboplastin time being validated for specific clinical indications, they are frequently ordered as screening tests and often ordered together, suggesting a gap in understanding of coagulation. Methods: Based on a needs assessment, we developed an online educational module on coagulation for trainees, incorporating education on testing cost, specificity, and sensitivity. Fifty participating resident physicians and medical students completed a validated premodule quiz, postmodule quiz after completion of the module, and a latent quiz 3 to 6 months after to assess longer-term knowledge retention. Trainees provided responses regarding their subjective laboratory test-ordering practices before and after module completion. Results: The median premodule quiz score was 67% (n = 50; range, 24%-86%) with an increase of 24% to a median postmodule quiz score of 91% (n = 50; range, 64%-100%). There was evidence of sustained knowledge acquisition with a latent quiz median score of 89% (n = 40; range, 67%-100%). Trainees were more likely to consider the sensitivity, specificity, and cost of laboratory investigations before ordering them following completion of the educational module. Conclusions: Using the expertise of medical educators and incorporating trainee feedback, we employed a novel approach to the teaching of coagulation to maximize its approachability and clinical relevance. We found sustained knowledge retention regarding coagulation and appropriate coagulation test ordering, and a subjective change to trainee ordering habits following participation in our educational intervention.

Reducing use of coagulation tests in a family medicine practice setting: An implementation study.

Introduction: Clinicians often order the international normalized ratio (INR) and activated partial thromboplastin time (APTT) to evaluate for the possibility of inherited bleeding disorders despite sensitivities and specificities of 1%-2%. The most accurate tool to evaluate for bleeding disorders is a validated bleeding assessment tool (BAT). Our aim was to reduce coagulation testing by >50% in a large family practice in Ontario, Canada. Methods: We conducted an implementation study from May 2016 to February 2020. Iterative interventions included introduction of a validated BAT into the electronic medical record (EMR); removal of the APTT as a prepopulated selection from the laboratory requisition; and education targeting family medicine teams and laboratory personnel. The primary outcome was the rate of pre- and post-APTT testing. Creatinine testing was the control. Data were analyzed via an interrupted time series analysis using Stata 13. Results: Immediately following education of the laboratory personnel on coagulation testing, the APTT rate level dropped by 1.26 tests per 100 patient visits per month (p < 0.001) and was sustained until the end of the study. Meanwhile, the PT/INR and creatinine testing rate levels did not change (rate level = -0.02 per 100 visits per month, p = 0.79 and 0.49, p = 0.22 respectively). There was good uptake of the BAT following integration and 18/88 (20%) obtained a referral to hematology after BAT completion. Conclusions: Multidisciplinary, iterative interventions reduced APTT testing and enabled the use of BATs to guide hematology referrals in a large family practice.

An Analysis of High-Resolution Computed Tomography Chest Manifestations of COVID-19 Patients in Pakistan.

Objective The objective of the present study is to describe high-resolution CT (HRCT) chest manifestations of coronavirus disease 2019 (COVID-19) patients presenting to a tertiary healthcare facility in Punjab, Pakistan, and to analyze the distribution of the disease in lung fields. Additionally, we assess the role of chest CT severity scoring (CT-SS) in determining the severity of pneumonia. Methods In this cross-sectional descriptive study conducted from March 30, 2020, to May 30, 2020, 87 confirmed COVID-19 patients undergoing HRCT scan in a tertiary care facility in Punjab, Pakistan were included. The HRCT chest was performed on the patients using a standard protocol. Each study was evaluated for the presence of ground-glass opacities (GGOs), consolidation, mixed pattern, distribution, crazy paving, reverse halo sign, nodules, pleural effusion, and other findings. Additionally, CT-SS was calculated by dividing each lung into 20 zones. Each zone was scored as 0, 1, and 2, representing no involvement, <50% involvement, and >50% involvement of one zone respectively (total score: 0-40 for each patient). The patients were classified into mild, moderate, and severe cases (mild: CT-SS of <20, moderate: CT-SS of 20-30, and severe: CT-SS of >30). Results GGO was the most common finding, as seen in 88.5% of the patients, followed by consolidations (52.8%) and crazy paving (33.3%). The majority of the patients showed the bilateral and peripheral distribution of the disease process. Vascular dilatation and bronchiectasis were seen in 10 patients; pleural effusions were observed in only two study patients, while no patient exhibited reverse halo sign or pulmonary nodules. The superior segment of lower lobes was the most commonly involved segment bilaterally. According to CT-SS, 78 (89.6%), six (6.9%), and three (3.45%) patients had mild, moderate, and severe disease respectively. Conclusion The typical imaging findings of COVID-19 on HRCT are GGOs with multilobe involvement and bilateral, peripheral, and basal predominance. CT-SS is helpful in categorizing pneumonia into mild, moderate, and severe types, thereby helping to identify patients with severe disease. This is particularly helpful in settings where fast triage is required.