Pathology Commons^™

Low-Grade Serous Ovarian Cancer: Expert Consensus Report On The State Of The Science, Rachel N Grisham, Brian M Slomovitz, Nicole Andrews, Susana Banerjee, Jubilee Brown, Mark S Carey, Herman Chui, Robert L Coleman, Amanda N Fader, Stephanie Gaillard, Charlie Gourley, Anil K Sood, Bradley J Monk, Kathleen N Moore, Isabelle Ray-Coquard, Ie-Ming Shih, Shannon N Westin, Kwong-Kwok Wong, David M Gershenson

Faculty, Staff and Student Publications

Compared with high-grade serous carcinoma, low-grade serous carcinoma of the ovary or peritoneum is a less frequent epithelial ovarian cancer type that is poorly sensitive to chemotherapy and affects younger women, many of whom endure years of ineffective treatments and poor quality of life. The pathogenesis of this disease and its management remain incompletely understood. However, recent advances in the molecular characterization of the disease and identification of novel targeted therapies with activity in low-grade serous carcinoma offer the promise of improved outcomes. To update clinicians regarding recent scientific and clinical trial advancements and discuss unanswered questions related to low-grade …

International Consensus Statement On Allergy And Rhinology: Sinonasal Tumors, Edward C. Kuan, Eric W. Wang, Nithin D. Adappa, Daniel M. Beswick, Nyall R. London, Shirley Y. Su, Marilene B. Wang, Waleed M. Abuzeid, Borislav Alexiev, Jeremiah A. Alt, Paolo Antognoni, Michelle Alonso-Basanta, Pete S. Batra, Mihir Bhayani, Diana Bell, Manuel Bernal-Sprekelsen, Christian S. Betz, Jean Yves Blay, Benjamin S. Bleier, Juliana Bonilla-Velez, Claudio Callejas, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Rakesh K. Chandra, Vasileios Chatzinakis, Simon B. Chen, Alexander G. Chiu, Stephen C. Hernandez, Et Al

School of Medicine Faculty Publications

Background; Sinonasal neoplasms, whether benign and malignant, pose a significant challenge to clinicians and represent a model area for multidisciplinary collaboration in order to optimize patient care. The International Consensus Statement on Allergy and Rhinology; Sinonasal Tumors (ICSNT) aims to summarize the best available evidence and presents 48 thematic and histopathology-based topics spanning the field. Methods; In accordance with prior International Consensus Statement on Allergy and Rhinology documents, ICSNT assigned each topic as an Evidence-Based Review with Recommendations, Evidence-Based Review, and Literature Review based on the level of evidence. An international group of multidisciplinary author teams were assembled for the …

September 2023: Region 10 Emerging Special Pathogen Treatment Center (Resptc) At Providence Sacred Heart Medical Center & Children’S Hospital, Providence - Special Pathogens Program

Special Pathogens Newsletters

REGION 10 SPECIAL PATHOGENS NEWSLETTER

Malignant Tumors Arising From Adult Polycystic Kidney Disease, Yazan Al-Othman, Mai Elzieny, Christopher Thorburn, John D. Schwartz, Susan I. Daraiseh, Hassan D. Kanaan, Zhenhong H. Qu, Ping L. Zhang

Conference Presentation Abstracts

Context: The prevalence of renal tumors arising from adult polycystic kidney disease (APKD) has been rarely reported in the pathology literature. We report our findings of various renal tumors in APKD nephrectomy specimens.

Design: We searched our database for APKD during the past 11 years and identified various primary malignant tumors within the kidneys of APKD.

Results: Forty-eight nephrectomies with APKD were evaluated. Ten malignant tumors were identified in the APKD kidneys, indicating a prevalence of 20.8% (10/48; Table). These included 4 clear cell (CC) renal cell carcinomas (RCCs) ranging from 1 mm to 6.7 cm, 3 papillary RCCs …

Audit Tumor Reports In Pathology For Completeness And Compliance By An Artificial Intelligence Tool, Chatgpt, Ashbita Pokharel, Keran Zhao, Reenal Patel, Jack W. Qu, Zhenhong Qu

Conference Presentation Abstracts

Context: A tumor synoptic report (TSR) audit is an important quality control tool for compliance with reporting requirements; however, no simple audit tool is readily available to most pathologists. ChatGPT (https://chat.openai.com/chat) is an emerging artificial intelligence tool with wide applications. Its ability to extract data from text content has been widely reported but lacks evidence-based validation for its application in medicine. We assess the effectiveness of ChatGPT to identify and extract key data elements of TSRs and detect missing elements.

Design: Forty synoptic reports of malignant tumors of the lung, kidney, colon, and uterus were collected randomly. Key data elements …

Hla-Ii-Dependent Neuroimmune Changes In Group A Streptococcal Necrotizing Fasciitis, Ganesh Ambigapathy, Santhosh Mukundan, Kumi Nagamoto-Combs, Colin Combs, Suba Nookala

Biomedical Sciences Faculty Publications

Streptococcus pyogenes (Group A Streptococcus, GAS) bacteria cause a spectrum of human diseases ranging from self-limiting pharyngitis and mild, uncomplicated skin infections (impetigo, erysipelas, and cellulitis) to highly morbid and rapidly invasive, life-threatening infections such as streptococcal toxic shock syndrome and necrotizing fasciitis (NF). HLA class II allelic polymorphisms are linked with differential outcomes and severity of GAS infections. The dysregulated immune response and peripheral cytokine storm elicited due to invasive GAS infections increase the risk for toxic shock and multiple organ failure in genetically susceptible individuals. We hypothesized that, while the host immune mediators regulate the immune responses against …

Polygenic Genetic Variation Affecting Antibody Formation Underlies Hypertensive Renal Injury In The Stroke-Prone Spontaneously Hypertensive Rat, Isha S Dhande, Yaming Zhu, Aniket S Joshi, M John Hicks, Michael C Braun, Peter A Doris

Faculty, Staff and Students Publications

During development of the spontaneously hypertensive rat (SHR), several distinct but closely related lines were generated. Most lines are resistant to hypertensive renal disease. However, the SHR-A3 line (stroke-prone SHR) experiences end-organ injury (EOI) and provides a model of injury susceptibility that can be used to uncover genetic causation. In the present study, we generated a congenic line in which three distinct disease loci in SHR-A3 are concurrently replaced with homologous loci from an injury-resistant SHR line (SHR-B2). Verification that all three loci were homozygously replaced in this triple congenic line [SHR-A3(Trip B2)] while the genetic background of SHR-A3 was …

Serum Tests For Donor-Derived Cell-Free Dna Are Well Correlated With Renal Transplant Rejection In Renal Biopsies: Our Preliminary Experience Of New Surveillance For Monitoring Rejection, Reenal Patel, Brandon Metcalf, Dilip Samarapungavan, Hassan D. Kanaan, Wei Li, Sarah T. Suliman, Atul Singh, Ping L. Zhang

Conference Presentation Abstracts

Context: Noninvasive serum test for donor-derived cell-free DNA (dd-cfDNA) has been found useful for monitoring acute cellular rejection (ACR) and antibody-mediated rejection (AMR) since 2018, and the accepted threshold to indicate rejection is 1%. The goal of this pilot study was to determine if this test can correlate with renal biopsy results during a 1-year period when the dd-cfDNA test was initiated in our medical center.

Design: Renal transplant biopsies were evaluated for various rejection and nonrejection etiologies. Their corresponding dd-cfDNA percentages were identified. The biopsy data and dd-cfDNA results were correlated.

Results: During a year, we noticed a trend …

Small-Molecule Chemical Probes For The Potential Therapeutic Targets In Alcoholic Liver Diseases, Ashish Dogra, Feng Li

Faculty, Staff and Students Publications

Alcoholic liver disease (ALD) encompasses a range of conditions resulting from prolonged and excessive alcohol consumption, causing liver damage such as alcoholic fatty liver, inflammation, fibrosis, and cirrhosis. Alcohol consumption contributes to millions of deaths each year. So far, the effective treatments for ALD are limited. To date, the most effective treatment for ALD is still prevention by avoiding excessive alcohol consumption, and only few specialized medicines are in the market for the treatment of patients suffering from ALD. Small molecules targeting various pathways implicated in ALD pathogenesis can potentially be used for effective therapeutics development. In this review, we …

Equine Bronchial Epithelial Cells Are Susceptible To Cell Entry With A Sars-Cov-2 Pseudovirus But Reveal Low Replication Efficiency, Rebecca M Legere, Angelica R Allegro, Yvonne Affram, Bibiana Petri Da Silveira, Jennifer L Fridley, Kelsey M Wells, Numan Oezguen, Robert C Burghardt, Gus A Wright, Jeroen Pollet, Angela I Bordin, Paul De Figueiredo, Julian L Leibowitz, Noah D Cohen

Faculty, Staff and Students Publications

Objective: To examine the susceptibility of cultured primary equine bronchial epithelial cells (EBECs) to a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pseudovirus relative to human bronchial epithelial cells (HBECs).

Sample: Primary EBEC cultures established from healthy adult horses and commercially sourced human bronchial epithelial cells (HBECs) were used as a positive control.

Methods: Angiotensin-converting enzyme 2 (ACE2) expression by EBECs was demonstrated using immunofluorescence, western immunoblot, and flow cytometry. EBECs were transduced with a lentivirus pseudotyped with the SARS-CoV-2 spike protein that binds to ACE2 and expresses the enhanced green fluorescent protein (eGFP) as a reporter. Cells were transduced …

Unexpected Drug-Induced Liver Injury Associated With Menofit: A Synbiotic Menopause Supplement, Apaar Dadlani, Azubuogu Anudu, E Celia Marginean

Faculty, Staff and Students Publications

MenoFit is a widely available over-the-counter synbiotic supplement, which is marketed for use in relieving menopausal symptoms. So far, there is no published data on liver injury because of its use. We present the first reported case of MenoFit-induced liver injury in a patient who presented with 1 week of jaundice and abnormal liver biochemical tests in the absence of other risk factors and negative comprehensive workup for known etiologies of liver disease.

Evaluation Of A Novel Lupus Anticoagulant Assay Designed To Reduce False Positive Results Due To Anticoagulation: A Retrospective Study At A Single Health System, Jessica D. Anderson, Tamara Sabih, Yuying Xing, Lili Zhao, Marc D. Smith

Conference Presentation Abstracts

Introduction: Lupus anticoagulants (LA) are antibodies directed against phospholipids/phospholipid-protein complexes involved in coagulation and are associated with thrombotic events and recurrent fetal loss. There is no gold standard test for LA, therefore at least two LA-specific tests are recommended before excluding LA. Potential testing methods involve dilute Russell viper venom time (dRVVT) and hexagonal phase phospholipid assays (HPPA); however, many of these tests are susceptible to interference with anticoagulant therapy which can lead to false positive results. In this study, we compared the performance of our current HPPA, StaClot LA (SCLA), with a novel assay reported to have relatively minimal …

Outpatient Management Of Urinary Tract Infections By Medical Officers In Nairobi, Kenya: Lack Of Benefit From Audit And Feedback On Adherence To Treatment Guidelines, Florence Mbatia, James Orwa, Mary B. Adam, Gulnaz Mohamoud, Rodney Adam

Family Medicine, East Africa

Introduction: Acute uncomplicated urinary tract infections are common in outpatient settings but are not treated optimally. Few studies of the outpatient use of antibiotics for specifc diagnoses have been done in sub-Saharan Africa, so little is known about the prescribing patterns of medical ofcers in the region.

Methods: Aga Khan University has 16 outpatient clinics throughout the Nairobi metro area with a medical ofcer specifcally assigned to that clinic. A baseline assessment of evaluation and treatment of suspected UTI was performed from medical records in these clinics. Then the medical ofcer from each of the 16 clinics was recruited from …

Renal Cell Carcinoma With Fibromyomatous Stroma Has A Distinctive Staining Pattern With Gata3 And Cd133 From Clear Cell Rcc And Clear Cell Papillary Rcc (Ccp-Rcc), Brandon Metcalf, Jining Feng, Leilei Chen, Vaishali Pansare, Ping L. Zhang

Conference Presentation Abstracts

Context: Renal cell carcinoma with fibromyomatous stroma (RCC-FMS) is a provisional entity of renal cell neoplasm that can be difficult to distinguish from low-grade clear cell RCC and clear cell papillary renal cell carcinoma (CCP-RCC) owing to its fibromyomatous stroma, low-grade nuclei, and clear cell cytoplasm.

Design: In this pilot study, we evaluated the utility of GATA3 and CD133 (a stem cell marker) as immunostain markers for the standard panel of cytokeratin 7 (CK7), CD10, and CAIX in distinguishing RCC-FMS from clear cell RCC and CCP-RCC. We stained 6 RCC-FMSs, 5 clear cell RCCs, and 5 CCP-RCC samples for all …

Monoclonal Immunoglobulin-Associated Glomerulopathy: Single Health Center Experience With 16 Cases, Brandon Metcalf, Yazan A. Al-Othman, James Huang, Wei Li, Hassan D. Kanaan, Ping L. Zhang

Conference Presentation Abstracts

Context: In addition to monoclonal cryoglobulinemic glomerulopathy, nonorganized monoclonal immunoglobulin (Ig) can deposit in glomeruli, causing either proliferative glomerulonephritis or membranous glomerulopathy. We present our experience related to this phenomenon.

Design: Sixteen cases of monoclonal immunoglobulin-associated glomerulopathy (MIAGN) from 14 patients were identified during the past 13 years and their pathologic and clinical features were collected and presented.

Results: One case of membranous glomerulopathy with monoclonal immunoglobulin deposits (MGNMID) (also called membranous glomerulopathy with light-chain–restricted deposits) was found. The patient was a 71-year-old woman with serum creatinine at 0.7 mg/dL and nephrotic syndrome (urine protein to creatinine ratio at 5.41), …

Igm-Dominant Immune Complex-Mediated Glomerulonephritis Should Be Classified As Membranoproliferative Glomerulonephritis, Igm Subtype, Sarang Khan, Brandon Metcalf, Wei Li, Hassan Kanaan, Ping L. Zhang

Conference Presentation Abstracts

Context: Immunoglobulin M (IgM) glomerulopathy usually presents as drug-resistant nephrotic syndrome and is characterized by diffuse effacement of foot processes and scattered mesangial IgM deposits, which is considered within the spectrum of minimal change disease and primary focal segmental glomerulosclerosis. However, IgM-dominant immune complex–mediated glomerulonephritis (IgM-ICMGN) is a rare renal entity and usually characterized by a membranoproliferative pattern with light microscopy; dominant IgM staining by immunofluorescent staining; and subendothelial, mesangial, and occasional subepithelial deposits by electron microscopy.

Design: We report our experience of 5 IgM-ICMGN cases with their pathologic phenotypes and clinical scenarios.

Results: Patient ages ranged from 47 to …

Combined Smad4 And Imp3 Immunohistochemical Stains To Increase The Probability Of Diagnosing Pancreatic Adenocarcinomas In Fine-Needle Biopsies, Reenal Patel, Ashbita Pokharel, Ping L. Zhang, Zhenhong H. Qu

Conference Presentation Abstracts

Context: SMAD4 and IMP3 are useful stains in diagnosing pancreatic cancer but not perfect to reach that goal individually. We attempted to determine if using both SMAD4 and IMP3 can increase the diagnostic specificity of fine-needle biopsies (FNBs) for pancreatic adenocarcinomas, as FNBs often showed limited tissue for the morphologic evaluation.

Design: Fifteen FNBs with or without prior cytology were evaluated with both SMAD4 and IMP3 stains. Nuclear loss of SMAD4 was graded as 0 (no loss), 1–2+ (partial loss), and 3+ (total loss), whereas IMP3 was graded 0–3+ by staining intensity. Staining results were correlated with morphologic changes for …

Doac Therapy Associated With Macroscopic Hematuria: Investigation Of The Underlying Urologic Etiologies, Catherine Xie, Mary Wyrzykowski, Subhash Edupuganti, Ming Xie

Conference Presentation Abstracts

Context: Direct oral anticoagulants (DOACs) have gained wide use in prevention and treatment of thromboembolic diseases. Both major and nonmajor bleeding events have been reported. Hematuria is a common bleeding complication in patients receiving DOACs.

Design: This study retrospectively investigates the underlying urologic etiologies responsible for DOAC therapy–related macroscopic hematuria. During a 1-year period, hospitalized patients with prolonged PTT and DOAC therapy–related hemorrhage were identified. Medical chart review focused on urology consult and related laboratory and imaging findings.

Results: Among 93 patients with DOAC therapy–related hemorrhage, 15 had macroscopic hematuria (16%), including 11 men and 4 women with a median …

Using An Artificial Intelligence (Ai) Tool (Chatgpt) To Identify The Main Indications And Side Effects Of Drugs In Patient Medical Records, Mai Elzieny, Zhenhong Qu

Conference Presentation Abstracts

Context: Drug history is important clinical information for the correct histologic diagnosis of a wide variety of nonneoplastic diseases, such as hepatitis, gastritis, and colitis. As pathologists, however, keeping a strong knowledge of all drugs (and variations of drug names) can be challenging. Using online databases to find relevant drug information one at a time is very time-consuming.

Design: Sixty-seven drugs were collected from the medical records of 5 randomly selected patients. ChatGPT (https://chat.openai.com/chat) was instructed to identify (1) the main clinical indications, and (2) the major side effects of each drug, using the prompt “List the major indications and …

Enhancing Pathology Report Analysis With Artificial Intelligence: A Validation Study Of Chatgpt's Effectiveness In 444 Cases, Zhenhong Qu, Megan Wang, Christian Santiago, Jack W. Qu, Ping Zhang

Conference Presentation Abstracts

Context: Despite years of efforts, the pathology report lacks standardization for its gross description. This inevitably leads to the occasional omission of key data elements, and difficulty to identify key elements in a lengthy unstructured report. A novel artificial intelligence (AI) tool, ChatGPT by OpenAI (San Francisco, California), was reportedly proficient in extracting keywords from text content. We assess the effectiveness of ChatGPT to quickly find multiple data elements in reports and detect missing data elements.

Design: Gross description of 444 pathology reports of several common organ types was submitted to ChatGPT (https://chat.openai.com/chat) that extracted and listed key data elements …

Stratification Of Pediatric Covid-19 Cases Using Inflammatory Biomarker Profiling And Machine Learning., Devika Subramanian, Aadith Vittala, Xinpu Chen, Christopher Julien, Sebastian Acosta, Craig Rusin, Carl Allen, Nicholas Rider, Zbigniew Starosolski, Ananth Annapragada, Sridevi Devaraj

Faculty, Staff and Students Publications

While pediatric COVID-19 is rarely severe, a small fraction of children infected with SARS-CoV-2 go on to develop multisystem inflammatory syndrome (MIS-C), with substantial morbidity. An objective method with high specificity and high sensitivity to identify current or imminent MIS-C in children infected with SARS-CoV-2 is highly desirable. The aim was to learn about an interpretable novel cytokine/chemokine assay panel providing such an objective classification. This retrospective study was conducted on four groups of pediatric patients seen at multiple sites of Texas Children's Hospital, Houston, TX who consented to provide blood samples to our COVID-19 Biorepository. Standard laboratory markers of …

A Defective Mechanosensing Pathway Affects Fibroblast-To-Myofibroblast Transition In The Old Male Mouse Heart, Aude Angelini, Joann Trial, Alexander B Saltzman, Anna Malovannaya, Katarzyna A Cieslik

Faculty, Staff and Students Publications

The cardiac fibroblast interacts with an extracellular matrix (ECM), enabling myofibroblast maturation via a process called mechanosensing. Although in the aging male heart, ECM is stiffer than in the young mouse, myofibroblast development is impaired, as demonstrated in 2-D and 3-D experiments. In old male cardiac fibroblasts, we found a decrease in actin polymerization, α-smooth muscle actin (α-SMA), and Kindlin-2 expressions, the latter an effector of the mechanosensing. When Kindlin-2 levels were manipulated via siRNA interference, young fibroblasts developed an old-like fibroblast phenotype, whereas Kindlin-2 overexpression in old fibroblasts reversed the defective phenotype. Finally, inhibition of overactivated extracellular regulated kinases …

The Rise Of Degrader Drugs, Mingxing Teng, Nathanael S Gray

Faculty, Staff and Students Publications

The cancer genomics revolution has served up a plethora of promising and challenging targets for the drug discovery community. The field of targeted protein degradation (TPD) uses small molecules to reprogram the protein homeostasis system to destroy desired target proteins. In the last decade, remarkable progress has enabled the rational development of degraders for a large number of target proteins, with over 20 molecules targeting more than 12 proteins entering clinical development. While TPD has been fully credentialed by the prior development of immunomodulatory drug (IMiD) class for the treatment of multiple myeloma, the field is poised for a "Gleevec …

The Combination Of Platelet Rich Plasma And Corticosteroids In Musculoskeletal And Musculotendinous Pathologies, Mikayla Stoudt

Master of Science in Physician Assistant Studies Capstone Presentations (Center City)

Background

- 126 million Americans reported to have a musculoskeletal or musculotendinous pathology in 2012¹

- Combined direct and indirect cost of these injuries in 2015 was $874 billion¹

- Corticosteroid injections have been the mainstay of invasive management after conservative methods fail
Long-term effects of corticosteroids

• Intra-articular injections for knee osteoarthritis resulted in cartilage volume loss¹⁰
• Harm to flexor tendons, neurovascular structures, and compromised integrity^{7, 11}

- Platelet Rich Plasma

• Sample patient blood --> Centrifuge --> Separate plasma and platelets from other blood products --> Reconcentrate the platelets into the plasma
• Platelets release growth factor …

Persistent Foci Of Infection: A Case Of Two Mycotic Aneurysms Separated In Time In A Patient With Infective E. Faecalis Endocarditis, Julia C. Stone, Joel Thompson, Joseph Hatem, Evan Basha

Advances in Clinical Medical Research and Healthcare Delivery

This is a case report of a patient who presented with mycotic aneurysms of two different blood vessels at separate hospital visits following a diagnosis of infective endocarditis.

Identification Of Immune Biomarkers In Thyroid Cancer, Anupam Kotwal

Theses & Dissertations

Thyroid cancer is the most common endocrine malignancy, estimated to be the second most common cancer in women by 2030. The frequency of differentiated thyroid cancer (DTC), the most common subtype of thyroid cancer, is higher in patients with autoimmune thyroid disease but the influence of the immune milieu on thyroid carcinogenesis remains unclear. To address this gap in knowledge, we performed clinical and translational experiments to identify immune biomarkers for the occurrence and prognosis of DTC. Multiparameter flow cytometry of peripheral blood from 32 adults found advanced thyroid cancer either at presentation or during the disease-course to be associated …

Sars-Cov-2 Infection In Unvaccinated High-Risk Pregnant Women In The Bronx, Ny, Usa Is Associated With Decreased Apgar Scores And Placental Villous Infarcts, Sandra E. Reznik, Patricia M. Vuguin, Alexa Cohen, Rasha Khoury, Olivier Loudig, Ridin Balakrishnan, Susan A. Fineberg, Francine Hughes, Malini Harigopal, Maureen J. Charron

School of Medicine Faculty Publications

Babies born to severe acute respiratory syndrome corona virus-2 (SARS-CoV-2)-infected mothers are at greater risk for perinatal morbidity and more likely to receive a neurodevelopmental diagnosis in the first year of life. However, the effect of maternal infection on placental function and neonatal outcomes varies depending upon the patient population. We set out to test our hypothesis that maternal SARS-CoV-2 infection in our underserved, socioeconomically disadvantaged, mostly unvaccinated, predominantly African American and Latina population in the Bronx, NY would have effects evident at birth. Under IRB approval, 56 SARS-CoV-2-positive patients infected during the “first wave” of the pandemic with alpha …

Comparison Of Random Urine Protein/Creatinine Ratio With 24-Hour Urine Protein In Suspected Pre-Eclampsia, Lily Olayinka, Emily Garnett, Brian Burnett, Sridevi Devaraj

Faculty, Staff and Students Publications

INTRODUCTION: Proteinuria is one of the classical criteria for the diagnosis of pre-eclampsia. The gold standard remains the measurement of 24-h urine protein which is time consuming and prone to preanalytical errors. Random urine protein creatinine ratio (UPCR) is endorsed by clinical practice guidelines as a faster alternative. The aim of this study was to evaluate the correlation between the 24-h urine protein excretion and UPCR in the identification of proteinuria in suspected preeclamptic patients.

METHOD: A total of 51 women with suspected pre-eclampsia from the maternal fetal clinic of our institution were retrospectively studied. The correlation between the UPCR …

Potassium Channel Subfamily T Member 1(Kcnt1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report, Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani

Department of Paediatrics and Child Health

Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti epileptic drugs and can present with a …

Pathologist-Initiated Reflex Testing For Biomarkers In Non-Small-Cell Lung Cancer: Expert Consensus On The Rationale And Considerations For Implementation, J R Gosney, L Paz-Ares, P Jänne, K M Kerr, N B Leighl, M D Lozano, U Malapelle, T Mok, B S Sheffield, A Tufman, I I Wistuba, S Peters

Faculty, Staff and Student Publications

Biomarker tests in lung cancer have been traditionally ordered by the treating oncologist upon confirmation of an appropriate pathological diagnosis. The delay this introduces prolongs yet further what is already a complex, multi-stage, pre-treatment pathway and delays the start of first-line systemic treatment, which is crucially informed by the results of such analysis. Reflex testing, in which the responsibility for testing for an agreed range of biomarkers lies with the pathologist, has been shown to standardise and expedite the process. Twelve experts discussed the rationale and considerations for implementing reflex testing as standard clinical practice.