Clinical PathologyPub Date : 2023-12-23eCollection Date: 2023-01-01DOI: 10.1177/2632010X231218075
Aboagye Kwarteng Dofuor, Naa Kwarley-Aba Quartey, Angelina Fathia Osabutey, Belinda Obenewa Boateng, Hanif Lutuf, Joseph Harold Nyarko Osei, Selina Mawunyo Ayivi-Tosuh, Albert Fynn Aiduenu, William Ekloh, Seyram Kofi Loh, Maxwell Jnr Opoku, Owusu Fordjour Aidoo
{"title":"The Global Impact of COVID-19: Historical Development, Molecular Characterization, Drug Discovery and Future Directions.","authors":"Aboagye Kwarteng Dofuor, Naa Kwarley-Aba Quartey, Angelina Fathia Osabutey, Belinda Obenewa Boateng, Hanif Lutuf, Joseph Harold Nyarko Osei, Selina Mawunyo Ayivi-Tosuh, Albert Fynn Aiduenu, William Ekloh, Seyram Kofi Loh, Maxwell Jnr Opoku, Owusu Fordjour Aidoo","doi":"10.1177/2632010X231218075","DOIUrl":"10.1177/2632010X231218075","url":null,"abstract":"<p><p>In December 2019, an outbreak of a respiratory disease called the coronavirus disease 2019 (COVID-19) caused by a new coronavirus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in Wuhan, China. The SARS-CoV-2, an encapsulated positive-stranded RNA virus, spread worldwide with disastrous consequences for people's health, economies, and quality of life. The disease has had far-reaching impacts on society, including economic disruption, school closures, and increased stress and anxiety. It has also highlighted disparities in healthcare access and outcomes, with marginalized communities disproportionately affected by the SARS-CoV-2. The symptoms of COVID-19 range from mild to severe. There is presently no effective cure. Nevertheless, significant progress has been made in developing COVID-19 vaccine for different therapeutic targets. For instance, scientists developed multifold vaccine candidates shortly after the COVID-19 outbreak after Pfizer and AstraZeneca discovered the initial COVID-19 vaccines. These vaccines reduce disease spread, severity, and mortality. The addition of rapid diagnostics to microscopy for COVID-19 diagnosis has proven crucial. Our review provides a thorough overview of the historical development of COVID-19 and molecular and biochemical characterization of the SARS-CoV-2. We highlight the potential contributions from insect and plant sources as anti-SARS-CoV-2 and present directions for future research.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231218075"},"PeriodicalIF":1.9,"publicationDate":"2023-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10748929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139032884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-12-23eCollection Date: 2023-01-01DOI: 10.1177/2632010X231220841
Kaniz Farzana Supti, Md Asaduzzaman, Farhana Islam Suhee, Mohammad Shahriar, Sardar Mohammad Ashraful Islam, Mohiuddin Ahmed Bhuiyan, Mma Shalahuddin Qusar, Md Rabiul Islam
{"title":"Elevated Serum Macrophage Migration Inhibitory Factor Levels are Associated With Major Depressive Disorder.","authors":"Kaniz Farzana Supti, Md Asaduzzaman, Farhana Islam Suhee, Mohammad Shahriar, Sardar Mohammad Ashraful Islam, Mohiuddin Ahmed Bhuiyan, Mma Shalahuddin Qusar, Md Rabiul Islam","doi":"10.1177/2632010X231220841","DOIUrl":"https://doi.org/10.1177/2632010X231220841","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have suggested the involvement of an activated inflammatory process in major depressive disorder (MDD), as altered expression of inflammatory cytokines is observed in depression. This alteration can be the cause or a consequence of MDD. However, acknowledging inflammatory cytokines as prospective biomarkers would aid in diagnosing or guiding better therapeutic options. Therefore, we designed this study to assess the macrophage migration inhibitory factor (MIF) in depression.</p><p><strong>Method: </strong>We collected blood samples from 115 MDD patients and 113 healthy controls (HCs) matched by age and sex. MDD patients were diagnosed by a qualified psychiatrist based on the symptoms mentioned in the diagnostic and statistical manual of mental disorders (DSM-5). We applied the Hamilton depression (Ham-D) rating scale to assess the severity of depression. We assessed serum levels of MIF using ELISA kit (Boster Bio, USA).</p><p><strong>Result: </strong>We detected increased serum MIF levels in MDD patients compared to HCs (6.15 ± 0.23 ng/mL vs 3.95 ± 0.21 ng/mL, <i>P</i> < 0.001). Moreover, this increase is more among female patients than female controls. Also, we noticed a positive correlation between altered MIF levels and the Ham-D scores (<i>r</i> = 0.233; <i>P</i> = 0.012), where we found that patients who scored higher on the Ham-D scale had higher MIF levels in serum. Moreover, the area under the curve (AUC) of receiver operating characteristic (ROC) curve represented the good diagnostic performance of altered serum MIF.</p><p><strong>Conclusion: </strong>Our study findings indicate the association of pro-inflammatory cytokine MIF in the pathophysiology of depression as we identified elevated serum MIF levels in depressive patients compared to HCs. However, more researches are required to confirm whether this alteration of cytokine is the causative factor or a consequence of depression. We recommend conducting further studies to understand the pattern of this alteration of MIF levels in MDD patients.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231220841"},"PeriodicalIF":1.3,"publicationDate":"2023-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10748934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139032883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-11-30eCollection Date: 2023-01-01DOI: 10.1177/2632010X231218074
Taketoshi Fujimoto
{"title":"Letter to the Editor: How Is Gallbladder Metastasis From Renal Cell Carcinoma Depicted on Ultrasound?","authors":"Taketoshi Fujimoto","doi":"10.1177/2632010X231218074","DOIUrl":"10.1177/2632010X231218074","url":null,"abstract":"","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231218074"},"PeriodicalIF":1.3,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10687913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-11-22eCollection Date: 2023-01-01DOI: 10.1177/2632010X231213794
Gabriela Lopes-Santos, Kaique Alberto Preto, Cléverson Teixeira Soares, Denise Tostes Oliveira
{"title":"Peculiar Histological Features of Oral Intravascular Papillary Endothelial Hyperplasia.","authors":"Gabriela Lopes-Santos, Kaique Alberto Preto, Cléverson Teixeira Soares, Denise Tostes Oliveira","doi":"10.1177/2632010X231213794","DOIUrl":"https://doi.org/10.1177/2632010X231213794","url":null,"abstract":"<p><p>A 55-year-old male patient with single and well-circumscribed nodule in the lower lip. Accurate diagnosis is based only on histopathological examination using hematoxylin and eosin and immunohistochemical approach, which a large, organized thrombus within the dilated lumen of a poorly demarcated vein, associated with papillary projections of endothelial proliferation occupying vascular spaces. The final diagnosis was intravascular papillary endothelial hyperplasia (IPEH) associated with a thrombus. Oral IPEH is rare and has historically been difficult to diagnose due to its resemblance to other oral lesions. However, the distinctive histological features of oral IPEH associated with a thrombus now allow for its diagnosis through hematoxylin and eosin staining alone, without the need for additional techniques. Therefore, it is crucial for pathologists to be familiar with these unique morphological features to accurately diagnose oral IPEH and differentiate it from more common benign, malignant, or reactive vascular lesions in the oral cavity.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231213794"},"PeriodicalIF":1.3,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"France Reports Rise in Severe Neonatal Infections Caused by a New Enterovirus (Echovirus-11) Variant.","authors":"Deepak Chandran, Sandip Chakraborty, Sirwan Khalid Ahmed, Hitesh Chopra, Md Rabiul Islam, Kuldeep Dhama","doi":"10.1177/2632010X231213793","DOIUrl":"10.1177/2632010X231213793","url":null,"abstract":"<p><p>The surge in severe neonatal sepsis cases caused by a novel variant of Echovirus 11 (E-11) in France and several European countries has sparked concern. The affected infants, mostly premature and twins, displayed rapid clinical decline within days after birth, presenting symptoms akin to septic shock with hepatic impairment and multi-organ failure. Laboratory findings revealed profound coagulopathy, low platelet counts, and acute renal failure, indicating severe disease progression. Genetic analysis identified a distinct recombinant E-11 lineage, previously unseen in France before July 2022. Despite its novelty, the exact pathogenicity remains uncertain. Although the World Health Organization downplaying immediate public health risks, the absence of a robust global surveillance program hinders accurate prevalence assessment. To mitigate the impact of this novel E-11 variant, establishing robust surveillance, refining diagnostic capabilities, and exploring therapeutic interventions such as intravenous immunoglobulin (IVIg) and pocapavir are imperative for effective management and prevention strategies.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231213793"},"PeriodicalIF":1.9,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-11-09eCollection Date: 2023-01-01DOI: 10.1177/2632010X231209878
Rahul G Sangani, Vishal Deepak, Andrew J Ghio, Zalak Patel, Esra Alshaikhnassir, Jeffrey Vos
{"title":"Peribronchiolar Metaplasia: A Marker of Cigarette Smoke-Induced Small Airway Injury in a Rural Cohort.","authors":"Rahul G Sangani, Vishal Deepak, Andrew J Ghio, Zalak Patel, Esra Alshaikhnassir, Jeffrey Vos","doi":"10.1177/2632010X231209878","DOIUrl":"10.1177/2632010X231209878","url":null,"abstract":"<p><strong>Background: </strong>Peribronchiolar metaplasia (PBM) is considered a reaction to injury characterized by the proliferation of bronchiolar epithelium into immediately adjacent alveolar walls. While an association of PBM with diffuse interstitial lung diseases has been recognized, the clinical significance of PBM remains uncertain.</p><p><strong>Methods: </strong>A cohort (n = 352) undergoing surgical resection of a lung nodule/mass in a rural area was retrospectively reviewed. Multivariate logistic regression analysis was performed to determine the association of PBM with clinical, physiological, radiographic, and histologic endpoints.</p><p><strong>Results: </strong>In the total study cohort, 9.1% were observed to have PBM as a histologic finding in resected lung tissue (n = 32). All but one of these patients with PBM were ever-smokers with a median of 42 pack years. Clinical COPD was diagnosed in two-thirds of patients with PBM. Comorbid gastroesophageal reflux disease (GERD) was significantly associated with PBM. All patients with PBM demonstrated radiologic and histologic evidence of emphysema. Measures of pulmonary function were not impacted by PBM. Mortality was not associated with the histologic observation of PBM. In a logistic regression model, centrilobular-ground glass opacity interstitial lung abnormality and traction bronchiectasis on the CT scan of the chest and histologic evidence of fibrosis, desquamative interstitial pneumonia and anthracosis all strongly predicted PBM in the cohort.</p><p><strong>Conclusion: </strong>A constellation of radiologic and histologic smoking-related abnormalities predicted PBM in study cohort. This confirms a co-existence of lung tissue responses to smoking including PBM, emphysema, and fibrosis. Acknowledging the physiologically \"silent\" nature of small airway dysfunction on pulmonary function testing, our findings support PBM as a histologic marker of small-airway injury associated with cigarette smoking.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231209878"},"PeriodicalIF":1.3,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89720557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-10-31eCollection Date: 2023-01-01DOI: 10.1177/2632010X231207725
Yosef Laviv, Eilat Sapirstein, Andrew A Kanner, Shani Berkowitz, Suzana Fichman, Alexandra Benouaich-Amiel, Shlomit Yust-Katz, Ekkehard E Kasper, Tali Siegal
{"title":"Significant Systemic Insulin Resistance is Associated With Unique Glioblastoma Multiforme Phenotype.","authors":"Yosef Laviv, Eilat Sapirstein, Andrew A Kanner, Shani Berkowitz, Suzana Fichman, Alexandra Benouaich-Amiel, Shlomit Yust-Katz, Ekkehard E Kasper, Tali Siegal","doi":"10.1177/2632010X231207725","DOIUrl":"10.1177/2632010X231207725","url":null,"abstract":"<p><strong>Background: </strong>Some glioblastoma multiforme (GBM) are characterized by the presence of gemistocytes (GCs), a unique phenotype of reactive astrocytes. Certain GCs can be identified as neoplastic cells but these cells were also found to be associated with diabetes in non-neoplastic lesions of the central nervous system. Our aim was to find a correlation between insulin - resistance metabolic features and the presence of GCs in patients with newly diagnosed GBM.</p><p><strong>Methods: </strong>Medical records from histologically confirmed GBM patients were retrospectively extracted for different systemic metabolic variables. A statistic-based comparison was made between GBM, diabetic patients with and without GC. Patients with poorly controlled diabetes (ie, hemoglobin A1C ⩾ 8.0) were also compared between the 2 groups.</p><p><strong>Results: </strong>A total of 220 newly diagnosed GBM patients were included in our study. 58 (26.3%) patients had a history of diabetes mellitus type 2 (DM2) at the time of admission. The rate of poorly-controlled DM2 was nearly as twice in the GC-GBM group than in the non-GC GBM group (18.75% vs 9.5%; <i>P</i> = .130). In the DM2 cohort, the subgroup of GC-GBM was significantly associated with demographic and metabolic features related to insulin resistance such as male gender predominance (89% vs 50%, <i>P</i> = .073) and morbid obesity (weight ⩾85 kg: OR 6.16; <i>P</i> = .0019 and mean BMI: 34.1 ± 11.42 vs 28.7 ± 5.44; <i>P</i> = .034 for group with and without GCs, respectively). In the poorly-controlled DM2 group, none of the GC-GBM patients were using insulin prior to diagnosis, compared to 61.1% in the non-GC GBM patients (OR = 0.04, <i>P</i> = .045).</p><p><strong>Conclusion: </strong>Systemic metabolic factors related to marked insulin resistance (DM2, morbid obesity, male gender) are associated with a unique histologic phenotype of GBM, characterized by the presence of GCs. This feature is prominent in poorly-controlled DM2 GBM patients who are not using synthetic insulin. This novel finding may add to the growing data on the relevance of glucose metabolism in astrocytes and in astrocytes associated with high-grade gliomas. In GBM patients, a correlation between patients' metabolic status, tumor's histologic phenotype, tumor's molecular changes, use of anti-diabetic drugs and the respective impact of these factor on survival warrants further investigation.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231207725"},"PeriodicalIF":1.3,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-10-14eCollection Date: 2023-01-01DOI: 10.1177/2632010X231205672
Rapty Sarker, Asm Roknuzzaman, Nazmunnahar, Md Rabiul Islam
{"title":"Risk Evaluation and Mitigation Strategies for Potential Outbreaks of Adenovirus Infection: Evidence From the Recent Incidences in West Bengal, India.","authors":"Rapty Sarker, Asm Roknuzzaman, Nazmunnahar, Md Rabiul Islam","doi":"10.1177/2632010X231205672","DOIUrl":"10.1177/2632010X231205672","url":null,"abstract":"<p><p>Recent outbreaks of highly virulent and pathogenic viruses such as COVID-19, monkeypox, and Nipah virus have prompted global concerns. Another threat has emerged in West Bengal, India, in the form of Human Adenovirus (HAdV), particularly affecting children and immunocompromised individuals. The DNA virus HAdV can cause respiratory, liver, renal, and neurological issues. Politically unstable areas with military and medical camps and refugee communities are at risk because they spread in densely populated areas. Due to its rapid mutation and dissemination, the virus represents a global threat. Although scientists have developed vaccines for specific serotypes of HAdV, their primary application is limited to military contexts. Antiviral and immunotherapy research is continuing, but treatment choices are limited. Public awareness programs and hygiene measures are essential to preventing a global pandemic. Governments should invest in healthcare infrastructure and diagnostics, and researchers should focus on developing vaccines and therapies. The West Bengal outbreak is a clear reminder that governments, healthcare professionals, and researchers must work together to control and prevent HAdV. To effectively comprehend and address this rising viral threat, it is imperative to engage in further research and documentation.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231205672"},"PeriodicalIF":1.9,"publicationDate":"2023-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/84/00/10.1177_2632010X231205672.PMC10576916.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41240850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical PathologyPub Date : 2023-10-11eCollection Date: 2023-01-01DOI: 10.1177/2632010X231205366
Suriadi Jais
{"title":"Various Types of Wounds That Diabetic Patients Can Develop: A Narrative Review.","authors":"Suriadi Jais","doi":"10.1177/2632010X231205366","DOIUrl":"10.1177/2632010X231205366","url":null,"abstract":"<p><p>Diabetic foot complications represent a substantial health burden and are the foremost cause of hospitalization in patients with diabetes. Diabetes mellitus (DM) is known to cause several other problems. Diabetes is rapidly becoming the leading cause of illness and death worldwide. Diabetic foot ulcers (DFU) are one of the most painful complications of diabetes. These complications cause problems in blood vessels, nerves, and other organs throughout the body. DFU pathophysiology is attributed to a triad of neuropathies, trauma with secondary infection, and arterial occlusive disease. This review aims to identify the types of wounds that diabetics can develop. Owing to the complexity of their disease pathology, diabetics are susceptible to a variety of wounds, such as diabetic ulcers due to trauma (DUDT); neuropathic, ischemic, neuroischemic, arterial, venous, and mixed wounds; and diabetic bullae, furuncles, cellulitis, and carbuncles. Therefore, it is essential for healthcare providers to recognize the specific classification of a diabetic wound based on its distinctive attributes to provide appropriate wound care and therapeutic interventions. In the context of individuals with diabetes, it is of paramount significance to precisely identify the types of wounds during the initial evaluation to provide appropriate care and treatment, thereby enhancing the probability of favorable outcomes.</p>","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"16 ","pages":"2632010X231205366"},"PeriodicalIF":1.3,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/36/10.1177_2632010X231205366.PMC10566271.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jeremy D. Ward, Mahesh S Sharma, M. Pizzuto, V. Moylan, F. Askin, D. Kaufman
{"title":"Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21","authors":"Jeremy D. Ward, Mahesh S Sharma, M. Pizzuto, V. Moylan, F. Askin, D. Kaufman","doi":"10.1177/2632010X221088966","DOIUrl":"https://doi.org/10.1177/2632010X221088966","url":null,"abstract":"Herein we discuss the clinical course and subsequent autopsy of a female infant with trisomy 21 with balanced Rastelli Type “C” complete atrioventricular septal defect (AVSD), tetralogy of Fallot and right aortic arch with mirror image branching pattern who underwent a palliative right modified Blalock-Taussig-Thomas shunt (mBTTS) for hypoxemia from progressive right ventricular outflow tract obstruction. The baby was found to have multiple concomitant pathologic findings not typically seen with this constellation of cardiac anatomy. Autopsy revealed significant abdominal adhesions with near-complete stenosis of the transverse colon. In addition, the infant was found to have significantly elongated villi within the small and large bowel and a relatively large collagenous polyp in the small bowel. The decedent also had an abnormal tracheal bronchus, characterized by an additional superior right-sided bronchus, which is an extremely rare abnormality. Her clinical course was complicated by severe pulmonary hypertensive arteriolar changes out of proportion to what would be typical for her age, trisomy 21 status, and degree of left to right intracardiac shunting. Furthermore, she had refractory anasarca and recurrent chylous pleural effusions without gross lymphatic abnormalities that may have been secondary to systemic capillary leak syndrome (SCLS) versus severe pulmonary hypertension. Due to the aforementioned findings, the family elected for comfort care and the baby expired shortly after extubation. Overall, the infant had multiple, rare coexisting congenital abnormalities that likely represents an extreme phenotype of trisomy 21 that has not been described in the literature to date.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46683260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}