Difficulty breathing or just a case of the nerves? Incidental finding of primary pleural schwannoma in a COVID-19 survivor

Schwannoma is a rare tumor that arises from the Schwann cells, which are specialized, myelin-producing cells of the peripheral nerve sheaths. As anatomic logic would dictate, these masses commonly occur in the skull base, cerebellopontine angle, and posterior spinal roots. Of this already rare entity, rarer still are the pleural schwannomas, representing approximately 1-2% of thoracic tumors. These tumors commonly affect adults with a propensity for the third and sixth decades of life and a comparative male predilection. Schwannomas are benign, indolent, and follow an asymptomatic course. As such, they often come to light incidentally.Here we report a case of primary pleural schwannomas in a 68-year-old female, found incidentally on a CT scan of the chest. To the best of our knowledge and literature review, no other similar case has been reported in our country, Pakistan. Around three weeks before her presentation, she was diagnosed with COVID-19. Her infection had run a mild course with quick recovery without the need for any hospitalization. Therefore, the manifestation of shortness of breath after resolution of all other symptoms prompted a further workup. Radiographic chest x-ray revealed an incidental finding of a large right upper lobe lung mass, slightly impinging on the trachea. This was followed by a chest CT scan at our radiological imaging facility, which showed a large, well-encapsulated, right upper lobe lung mass in the paraspinal apical location. She then underwent an image-guided biopsy of the aforementioned mass, pathological analysis of which was suggestive of a benign peripheral nerve sheath tumor (PNST) arising from the pleura (pleural schwannoma). She underwent right posterolateral thoracotomy with uneventful complete surgical removal of the pleural-based lung mass. Postoperative investigations included a chest x-ray that showed interval complete resection of the mass. Currently, she is asymptomatic and her clinical condition has improved with the successful resumption of her daily routine.Physicians thus need to keep pleural schwannomas in mind as a probable diagnosis of intrathoracic tumors. Indolent and asymptomatic, they are very amenable to surgical resection with little to no chances of recurrence in the long term. However, these patients should be closely followed with repeat imaging studies when symptomatic

Frequency of etiologies of acute kidney injury in Faisalabad and surrounding districts

Background: To find out the causes of Acute Kidney Injury (AKI) in population.Methods: A total of 150 patients were enrolled from medical, surgical, gynecology and obstetrics units of Allied Hospital and Madinah Teaching Hospital, Faisalabad, Pakistan. History, physical examination and investigations were recorded on specially designed proforma. Patients were evaluated to find out the etiologies of AKI. All patients were subjected to urine analysis, complete blood count, blood biochemistry (urea, creatinine, electrolytes, uric acid, calcium and phosphorus) and ultrasound scan of the abdomen and pelvis. Renal biopsy, immunological assays, such as hepatitis B surface antigen, anti-hepatitis C virus antibody, complements level, antinuclear antibody, anti-double-stranded DNA, anti-neutrophil cytoplasmic antibody and anti-glomerular basement membrane antibody were performed in selected cases.Results: Male (36%) and female (64%). Pre-renal AKI was most common and was reported in 80 patients (53.33%). Intrinsic Renal azotemia in 56 patients (37.33%). Post renal azotemia in 14 patients (9.33%). Among 80 patients of prerenal AKI, hemorrhage in 45(56.25%), gastroenteritis in 16(20%), sepsis in 8(10%), cardiac diseases in 4(5%), hepatorenal syndrome in 3 (3.75%), peritonitis in 2 (2.50%) and burns in 2(2.50%) were the main causes of Pre-renal AKI. Among 56 patients of intrinsic renal AKI, 40(71.4%) had acute tubular necrosis (ATN), 12(21.4%) with multifactorial causes and 4(7.14%) were found to have glomerulonephritis. Among 14 patients of post renal AKI, 6(42.9%) were having calculi, 6(42.9%) were to have enlarged prostate and 2(4.3%) were having stricture urethra. In this study, contribution of obstetrical, medical and surgical etiologies were recorded as 40%, 36% and 20% respectively.Conclusions: In contrast to study reported from neighbouring country, this study shows rather increase in pregnancy related AKI

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples from eight families with autosomal recessive retinal dystrophies were subjected to genome wide homozygosity mapping (seven by SNP arrays and one by STR markers) and genes comprised within the detected homozygous regions were analyzed by Sanger sequencing. All families displayed consistent autozygous genomic regions. Sequence analysis of candidate genes identified four previously-reported mutations in CNGB3, CNGA3, RHO, and PDE6A, as well as three novel mutations: c.2656C > T (p.L886F) in RPGRIP1, c.991G > C (p.G331R) in CNGA3, and c.413-1G > A (IVS6-1G > A) in CNGB1. This latter mutation impacted pre-mRNA splicing of CNGB1 by creating a -1 frameshift leading to a premature termination codon. In addition to better delineating the genetic landscape of inherited retinal dystrophies in Pakistan, our data confirm that combining homozygosity mapping and candidate gene sequencing is a powerful approach for mutation identification in populations where consanguineous unions are common

Investigation of an extensive outbreak of HIV infection among children in Sindh, Pakistan: protocol for a matched case-control study.

INTRODUCTION: In April 2019, 14 children were diagnosed with HIV infection by a private healthcare provider in Larkana district, Sindh province, Pakistan. Over the next 3 months, 930 individuals were diagnosed with HIV, >80% below 16 years, the largest ever outbreak of HIV in children in Pakistan. In this protocol paper, we describe research methods for assessing likely modes of HIV transmission in this outbreak and investigate spatial and molecular epidemiology. METHODS AND ANALYSIS: A matched case-control study will be conducted with 406 cases recruited. Cases will be children aged below 16 years registered for care at the HIV treatment centre at Shaikh Zayed Children Hospital in Larkana City. Controls will be children who are HIV-uninfected (confirmed by a rapid HIV test) matched 1:1 by age (within 1 year), sex and neighbourhood. Following written informed consent from the guardian, a structured questionnaire will be administered to collect data on sociodemographic indices and exposure to risk factors for parenteral, vertical and sexual (only among those aged above 10 years) HIV transmission. A blood sample will be collected for hepatitis B and C serology (cases and controls) and HIV lineage studies (cases only). Mothers of participants will be tested for HIV to investigate the possibility of mother-to-child transmission. Conditional logistic regression will be used to investigate the association of a priori defined risk factors with HIV infection. Phylogenetic analyses will be conducted. Global positioning system coordinates of participants' addresses will be collected to investigate concordance between the genetic and spatial epidemiology. ETHICS AND DISSEMINATION: Ethical approval was granted by the Ethics Review Committee of the Aga Khan University, Karachi. Study results will be shared with Sindh and National AIDS Control Programs, relevant governmental and non-governmental organisations, presented at national and international research conferences and published in international peer-reviewed scientific journals

Effects of ramped wall temperature and concentration on viscoelastic Jeffrey’s fluid flows from a vertical permeable cone

In thermo-fluid dynamics, free convection flows external to different geometries such as cylinders, ellipses, spheres, curved walls, wavy plates, cones etc. play major role in various industrial and process engineering systems. The thermal buoyancy force associated with natural convection flows can exert a critical role in determining skin friction and heat transfer rates at the boundary. In thermal engineering, natural convection flows from cones has gained exceptional interest. A theoretical analysis is developed to investigate the nonlinear, steady-state, laminar, non-isothermal convection boundary layer flows of viscoelastic fluid from a vertical permeable cone with a power-law variation in both temperature and concentration. The Jeffery’s viscoelastic model simulates the non-Newtonian characteristics of polymers, which constitutes the novelty of the present work. The transformed conservation equations for linear momentum, energy and concentration are solved numerically under physically viable boundary conditions using the finite-differences Keller-Box scheme. The impact of Deborah number (De), ratio of relaxation to retardation time (λ), surface suction/injection parameter (fw), power-law exponent (n), buoyancy ratio parameter (N) and dimensionless tangential coordinate (Ѯ) on velocity, surface temperature, concentration, local skin friction, heat transfer rate and mass transfer rate in the boundary layer regime are presented graphically. It is observed that increasing values of De reduces velocity whereas the temperature and concentration are increased slightly. Increasing λ enhance velocity however reduces temperature and concentration slightly. The heat and mass transfer rate are found to decrease with increasing De and increase with increasing values of λ. The skin friction is found to decrease with a rise in De whereas it is elevated with increasing values of λ. Increasing values of fw and n, decelerates the flow and also cools the boundary layer i.e. reduces temperature and also concentration. The study is relevant to chemical engineering systems, solvent and polymeric processes

Bleeding disorders in the tribe: result of consanguineous in breeding

<p>Abstract</p> <p>Objective</p> <p>To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.</p> <p>Design</p> <p>Cross Sectional Study</p> <p>Introduction</p> <p>Countries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. Here we describe a family, living in village Ali Murad Chandio, District Badin, labeled as haemophilia.</p> <p>Patients & Methods</p> <p>Our team visited the village & developed the pedigree of the whole extended family, up to seven generations. Performa was filled by incorporating patients, family history of bleeding, signs & symptoms, and bleeding from any site. From them 144 individuals were screened with CBC, bleeding time, platelet aggregation studies & RiCoF. While for PT, APTT, VWF assay and Factor VIII assay, samples were kept frozen at -70 degrees C until tested.</p> <p>Results</p> <p>The family tree of the seven generations comprises of 533 individuals, 63 subjects died over a period of 20 years and 470 were alive. Out of all those 144 subjects were selected on the basis of the bleeding history. Among them 98(68.1%) were diagnosed to have a bleeding disorder; 44.9% patients were male and 55.1% patients were female. Median age of all the patients was 20.81, range (4 months- 80 yrs). The results of bleeding have shown that majority had gum bleeding, epistaxis and menorrhagia. Most common bleeding disorder was Von Willebrand disease and Platelet functional disorders.</p> <p>Conclusion</p> <p>Consanguineous marriages keep all the beneficial and adversely affecting recessive genes within the family; in homozygous states. These genes express themselves and result in life threatening diseases. Awareness, education & genetic counseling will be needed to prevent the spread of such common occurrence of these bleeding disorders in the community.</p

Delay in diagnosis of tuberculosis in Rawalpindi, Pakistan

<p>Abstract</p> <p>Background</p> <p>Delay in diagnosis and treatment of tuberculosis (TB) may enhance the chances of morbidity and mortality and play a key role in continuous transmission of the bacilli. The objective of this study was to describe health care seeking behavior of suspected TB patients and initial diagnostic work up prior to consultation and diagnosis at National TB Center (NTC).</p> <p>Findings</p> <p>Interviews of 252 sputum smear positive patients were taken from NTC, Rawalpindi. The duration between on-set of symptoms and start of treatment was considered as the total delay and correlated with general characteristics of TB patients. The proportion of males and females were 49.6% and 50.4% with median age of 25 and 24 years respectively. A median delay of 56 days (8 weeks) was observed which was significantly associated with age, cough and fever. More than 50% of the current patients had a history of contact with previously diagnosed TB patients. The majority of patients (63%) visited health care providers within three weeks of appearance of symptoms but only thirty five percent were investigated for TB diagnosis.</p> <p>Conclusion</p> <p>Cough and fever are being ignored as likely symptoms of TB by patients as well as health care providers resulting in delay. Engaging private practitioners through public private mix (PPM) approach for expansion of TB diagnosis and increasing public awareness could be more beneficial to reduce delay.</p

Genotypic and environmental interaction in advanced lines of wheat under salt-affected soils environment of Punjab

Wheat cultivars of diverse origin including approved varieties of different provinces of Pakistan i.e. Punjab, NWFP and Sindh were tested against different salinity levels in laboratory as well as in naturally saline fields in different ecological zones. Initially, 16 genotypes were studied for germination test at 6 different salinity levels ranging from 0-25 dS/m (2, 5, 10, 15, 20, 25, EC= dS/m). Then, out of 16 cultivars, 11 were studied for the relative growth rate at different levels of salinity and after their study in the laboratory, 9 genotypes were selected for testing in the naturally saline areas of Punjab province. Under germination percentage study, the varieties viz. Pasban-90, Sarsabz, Bakhtawar, 93032 and 933118 were less affected than other varieties. As regards the relative plant growth, varieties viz. Sarsabz, Bakhtawar, and Pasban-90 were tolerant to salinity at seedling stage while Inqlab was graded as sensitive to salt stress. Regarding field performance, significant differences were observed in the varieties grown under different saline environments and varieties x environment interaction. Varieties x environment (Lin) interaction was non significant while nonlinear interaction (pooled deviation) was significant. Based on overall yield performance, the Sarsabz variety produced the highest seed yield (4.37 T/ha) followed by Bakhtawar (4.24 T/ha) and Pasban-90 (3.93 T/ha). Regression coefficient values showed non significant differences to unity while standard deviation to regression showed significant differences to zero. These results indicated that the genotypes viz. Sarsabaz, Bakhtawar and Pasban-90 are better tolerant to saline environment as compared to others. The two genotypes, Marvi and 25219 had low regression values and can fit under stress environment