{"title":"Extensive Invasive Sinusitis Secondary to <i>Streptococcus Intermedius</i> Infection.","authors":"McKenna Morrow, Mari Ogino, Alay Shah, John Ning","doi":"10.3121/cmr.2024.1935","DOIUrl":"https://doi.org/10.3121/cmr.2024.1935","url":null,"abstract":"<p><p>Invasive sinusitis is a rare complication of sinusitis. We present the case of a woman, age 72 years, who presented with acute encephalopathy in the setting of sepsis found to have extensive invasive sinusitis with intracranial extension secondary to <i>Streptococcus intermedius</i>, managed with intravenous antibiotics alone. <i>S. intermedius</i> is a rare cause of acute bacterial sinusitis, associated with infections of relatively greater severity and risk of intracranial spread, often requiring a combination of intravenous antibiotics and surgical debridement for source control. Successful treatment of invasive sinusitis with medical management alone may be achievable if surgical intervention is contraindicated. However, the probability of meaningful recovery without surgical source control is rare and is associated with greater morbidity and mortality. Therefore, factors contributing to the success of medical management alone should be investigated.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510311","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}
Elizabeth Ethington, Ellen Melrose, Erik J Stratman
{"title":"The Relative Timing, Outcomes, and Economic Impact of Anti-Nuclear Antibody (ANA) and Extractable Nuclear Antigen (ENA) Laboratory Ordering.","authors":"Elizabeth Ethington, Ellen Melrose, Erik J Stratman","doi":"10.3121/cmr.2024.1937","DOIUrl":"https://doi.org/10.3121/cmr.2024.1937","url":null,"abstract":"<p><p><b>Objective:</b> To determine the rates of simultaneous antinuclear antibodies (ANA) screening and extractable nuclear antigen (ENA) testing that do not follow recommendations.<b>Design, Setting, and Participants:</b> Retrospective cohort study of adult patients (≥18 years) with a HEp-2 ANA or ENA ordered in the Marshfield Clinic Health System.<b>Main Outcome(s) and Measure(s):</b> Counts of patients having simultaneous ANA and ENA laboratory testing or ENA testing without ANA screening. Relevant ENA positivity in ANA negative patients. Secondary measures included relative timing of ANA and ENA ordering, potential cost savings of unnecessary testing, and provider ordering characteristics including specialty and provider type.<b>Results:</b> Of 58,627 cohort patients, 39,155 (66.8%) were women, and the mean (SD) age at first laboratory testing was 48.7 (19.0) years. The negative ANA with positive ENA rate was 2%. Further stratification identified only 23 diagnosed autoimmune connective tissue diseases (AI-CTDs) in this 2%, with a resulting negative ANA with relevant positive ENA rate of 0.37%. Simultaneous ANA and ENA testing occurred in 8.3% of patients, and an ENA only was ordered in 24.2% of patients. The simultaneous or non-sequential ordering of ANA and ENA testing resulted in significant health care costs of $2,293,251.80 over 20,112 unique patients.<b>Conclusions and Relevance:</b> A significant percentage of providers do not follow recommendations to sequentially order ANA and ENA testing on patients with suspected AI-CTDs. Significant saving in health care spending without failure to diagnose AI-CTDs can be achieved if ANA testing is performed first, followed by ENA testing when suspecting AI-CTDs in patients.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510314","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":"Obstructive Shock in Acute Vena Cava Filter Thrombosis: A Rare Presentation.","authors":"Kirran Bakhshi, Sashi Inkollu, Rohit Sharma","doi":"10.3121/cmr.2024.1921","DOIUrl":"https://doi.org/10.3121/cmr.2024.1921","url":null,"abstract":"<p><p>Inferior vena cava (IVC) filters are commonly placed to prevent the development or worsening of pulmonary emboli. They are also inherently thrombogenic. Here we discuss a case of acute IVC filter thrombosis with the unusual presentation of obstructive shock resulting in death. A man, age 70 years, underwent laminectomy for multilevel spinal stenosis. An IVC filter was placed preoperatively for acute calf deep vein thrombosis (DVT). On postoperative day 4 he developed tachycardia, hypotension, and signs of lower extremity arterial insufficiency. No lower extremity swelling was noted. Imaging showed complete IVC occlusion caudal to the IVC filter with extension to bilateral iliofemoral veins. Arterial flow was preserved. Therapeutic heparinization was initiated and urgent percutaneous thrombectomy was performed. However, the patient developed multi-organ failure and died shortly thereafter. This report describes an uncommon etiology of obstructive shock and highlights a potentially life-threatening thrombotic complication associated with IVC filters that clinicians should be vigilant about.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142516719","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}
Djatnika Setiabudi, Buti Azfiani Azhali, Muhammad Akbar Tirtosudiro, Monika Hasna Ramadhan, Muhamad Rinaldhi, Heda Melinda Nataprawira
{"title":"Long COVID or Post-Acute Sequelae of COVID-19 (PASC) in Children and Adolescents.","authors":"Djatnika Setiabudi, Buti Azfiani Azhali, Muhammad Akbar Tirtosudiro, Monika Hasna Ramadhan, Muhamad Rinaldhi, Heda Melinda Nataprawira","doi":"10.3121/cmr.2024.1858","DOIUrl":"https://doi.org/10.3121/cmr.2024.1858","url":null,"abstract":"<p><p><b>Introduction:</b> Few studies of children with long COVID (post-COVID-19 condition) or post-acute sequelae of SARS CoV-2 (PASC) have been reported. Those terms describe symptoms that persist for weeks or months or as new symptoms that develop after SARS-CoV-2 infection. This condition might be found to various degrees in the severity of COVID-19. This study aimed to describe long COVID in confirmed SARS-CoV-2-infected children.<b>Design:</b> An observational cross-sectional study.<b>Setting:</b> Tertiary care hospital between January and November 2021.<b>Participants:</b> Children, age 5-17 years, with virologically confirmed COVID?19.<b>Methods:</b> This study was conducted by completing an electronic form after informed consent was obtained. The subject's characteristics and parent's or guardian's phone numbers were retrieved from the pediatric COVID-19 registry. Parents were contacted to complete a structured electronic questionnaire about the long COVID symptoms noticed in their children. Descriptive statistics were displayed in percentages and median.<b>Results:</b> Parent contact numbers were documented in 125/135 children who fulfilled the study criteria. There were 61 parents (48.8%) who gave consent, while the rest either did not respond or refused. There were 16 children reported as deceased primarily due to chronic renal disease and leukemia. Of the 45 children enrolled, the median (IQR) age was 11 years (5.3-17.6); 51.1% were female; and 75.6% had comorbidities. Two-thirds developed long COVID symptoms, most frequently in the age 5-9 years group, and mostly fatigue (45.2%), decreased appetite (38.7%), and muscle aches (32.3%). All patients with moderate to severe and more than half asymptomatic to mild COVID-19 developed long COVID.<b>Conclusion:</b> Most children had long COVID symptoms similar to adults despite being otherwise asymptomatic or having mild COVID-19.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510312","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":"Diagnostic Accuracy of AI Algorithms in Aortic Stenosis Screening: A Systematic Review and Meta-Analysis.","authors":"Apurva Popat, Babita Saini, Mitkumar Patel, Niran Seby, Sagar Patel, Samyuktha Harikrishnan, Hilloni Shah, Prutha Pathak, Anushka Dekhne, Udvas Sen, Sweta Yadav, Param Sharma, Shereif Rezkalla","doi":"10.3121/cmr.2024.1934","DOIUrl":"10.3121/cmr.2024.1934","url":null,"abstract":"<p><p><b>Background:</b> Aortic stenosis (AS) is frequently identified at an advanced stage after clinical symptoms appear. The aim of this systematic review and meta-analysis is to evaluate the diagnostic accuracy of artificial intelligence (AI) algorithms for AS screening.<b>Methods:</b> We conducted a thorough search of six databases. Several evaluation parameters, such as sensitivity, specificity, diagnostic odds ratio (DOR), negative likelihood ratio (NLR), positive likelihood ratio (PLR), and area under the curve (AUC) value were employed in the diagnostic meta-analysis of AI-based algorithms for AS screening. The AI algorithms utilized diverse data sources including electrocardiograms (ECG), chest radiographs, auscultation audio files, electronic stethoscope recordings, and cardio-mechanical signals from non-invasive wearable inertial sensors.<b>Results:</b> Of the 295 articles identified, 10 studies met the inclusion criteria. The pooled estimates for AI-based algorithms in diagnosing AS were as follows: sensitivity 0.83 (95% CI: 0.81-0.85), specificity 0.81 (95% CI: 0.79-0.84), PLR 4.78 (95% CI: 3.12-7.32), NLR 0.20 (95% CI: 0.13-0.28), and DOR 27.11 (95% CI: 14.40-51.05). The AUC value was 0.909 (95% CI: 0.889-0.929), indicating outstanding diagnostic accuracy. Subgroup and meta-regression analyses showed that continent, type of AS, data source, and type of AI-based method constituted sources of heterogeneity. Furthermore, we demonstrated proof of publication bias for DOR values analyzed using Egger's regression test (<i>P</i> = 0.002) and a funnel plot.<b>Conclusion:</b> Deep learning approaches represent highly sensitive, feasible, and scalable strategies to identify patients with moderate or severe AS.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510310","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}
Ali Abdul Hussein S Al-Janabi, Emad Tahseen Al-Mussawi
{"title":"Potential Application of Anti-Cyclic Citrullinated Peptide (Anti-CCP) for the Diagnosis of Periodontal Disease in Patients with Rheumatoid Arthritis with Cut-Off Determination.","authors":"Ali Abdul Hussein S Al-Janabi, Emad Tahseen Al-Mussawi","doi":"10.3121/cmr.2024.1887","DOIUrl":"https://doi.org/10.3121/cmr.2024.1887","url":null,"abstract":"<p><p><b>Background:</b> Rheumatoid arthritis (RA) and periodontal disease (PD) are both characterized by an inflammatory reaction. Anti-cyclic citrullinated peptide (anti-CCP) is a common diagnostic test for RA. Anti-CCP is proposed to be used as a serological biomarker to detect PD in patients with RA.<b>Methods:</b> A case-control study was designed for 94 subjects; 42 patients with RA and 52 without RA. PD and its types were investigated among these subjects. An enzyme-linked immunosorbent assay (ELISA) test was used to measure anti-CCP levels in these subjects.<b>Results:</b> Subjects were recategorized into four groups after PD diagnosis: group 1 for RA with PD (34.04%); group 2 for RA only (10.63%); group 3 for PD only (30.85%); and group 4 for individuals without RA and PD (24.46%). Anti-CCP may be considered an effective biomarker for predicting the development of PD in RA patients based on five current results found in group 1 compared to other groups. These included the detection of significantly higher anti-CCP levels, a high sensitivity (63.15%), low specificity (50%), higher cut-off value (58.53 U/ml), high positive predictive value (94.73%), and low negative predictive value (8.69%) of anti-CCP. Chronic periodontitis is the most common and has a significant association with elevated levels of anti-CCP.<b>Conclusion:</b> Measuring the anti-CCP level in RA patients may be a good indicator for PD diagnosis based on the suggested cut-off value. The sensitivity of the test is sufficiently reliable to produce true positive results. Anti-CCP may also be useful in the diagnosis of PD type, especially chronic periodontitis.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510313","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}
Sarah Shidid, Haram Abdelmajid, Pakinam Mekki, Tamar Anne Smith-Norowitz
{"title":"Crafting the Future Doctor: Mentorship in the First Year of Medical School.","authors":"Sarah Shidid, Haram Abdelmajid, Pakinam Mekki, Tamar Anne Smith-Norowitz","doi":"10.3121/cmr.2024.1911","DOIUrl":"https://doi.org/10.3121/cmr.2024.1911","url":null,"abstract":"<p><p><b>Background:</b> The Clinically Reimagined Apprenticeship For Physician Training (CRAFT) program is a volunteer, student-run, clinical mentorship program that started in 2015 at an academic medical center in the Mid-Atlantic region. Clinical exposure during the first year of medical school may influence a student's decision to pursue internal medicine for their residency program of choice.<b>Methods:</b> A retrospective chart analysis of CRAFT program volunteers was conducted. First-year medical school students at an academic medical center in the Mid-Atlantic region (first-year classes of 2020 to 2022) who participated in the CRAFT program (N=77) were followed from first year until their medical school graduation. Information regarding first year mentor's specialty and student's match list data were collected.<b>Results:</b> Students (51%) who participated in CRAFT matched into the same specialty of medicine as their CRAFT program mentors (<i>P</i>=0.765, Chi Square Test). The top specialties represented included emergency medicine, internal medicine, obstetrics/gynecology, and surgery. Of students (23%) who chose mentors in internal medicine, 50% matched into internal medicine residency programs (<i>P</i><0.0001, Chi Square Test).<b>Conclusion:</b> Clinical mentorship programs during the first year of medical school may be important for choosing future residency programs, leading to successful career goals. Timely engagement with mentors can be crucial in influencing career choices in the field of internal medicine.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510309","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}
Adedayo Joseph, Abdul R Shour, Nwamaka N Lasebikan, Mutiu A Jimoh, Bolanle C Adegboyega, Emmanuella Nwachukwu, Opeyemi Awofeso, Azeezat Ajose, Abiola Ibraheem, Omolara Aminat Fatiregun, Musa Ali-Gombe, Usman M Aliyu, Abdallah Elsaid Kotkat, Olusegun Abayomi Biyi-Olutunde, Evaristus Oseiwe Oboh, Ismail H Zubairu, Mohammad Rifat Haider, Bankole Olatosi, Samuel Olaolu Adeneye, David Puthoff, Adedayo A Onitilo
{"title":"COVID-19-Related Treatment Cancellations and Oncology Patients' Psychological Health in Nigeria.","authors":"Adedayo Joseph, Abdul R Shour, Nwamaka N Lasebikan, Mutiu A Jimoh, Bolanle C Adegboyega, Emmanuella Nwachukwu, Opeyemi Awofeso, Azeezat Ajose, Abiola Ibraheem, Omolara Aminat Fatiregun, Musa Ali-Gombe, Usman M Aliyu, Abdallah Elsaid Kotkat, Olusegun Abayomi Biyi-Olutunde, Evaristus Oseiwe Oboh, Ismail H Zubairu, Mohammad Rifat Haider, Bankole Olatosi, Samuel Olaolu Adeneye, David Puthoff, Adedayo A Onitilo","doi":"10.3121/cmr.2024.1854","DOIUrl":"10.3121/cmr.2024.1854","url":null,"abstract":"<p><p><b>Objective:</b> To explore the association between COVID-19-related cancer treatment cancellations and the psychological health of cancer patients in Nigeria.<b>Methods:</b> We analyzed data collected from 15 outpatient cancer clinics, comprising 1,097 patients between April to July 2020. Study outcome was ten psychological impacts, including feeling down, stressed, and unable to access treatment due to COVID-19 (used as continuous and categorical variable (0-3,4-7,8+ events). The independent variable was treatment cancellations due to COVID-19 categorized as 0, 1, and 2+ cancellations. Confounders included religion, ethnicity, income, cancer diagnosis/type, and treatment received. Stata/SE.v.17 was used to perform all analyses. <i>P</i> values of ≤0.05 were deemed statistically significant.<b>Results:</b> Of the 1,097 cancer patients, 65.7% were female, with a mean age (SD) of 49.4 (13.8) years. Most patients (50.3%) reported four to seven psychological health events. Cancer patients who reported two/more treatment cancellations made up only 12.8% of the study sample but accounted for a greater proportion of psychological impacts (23.5%; <i>P</i><0.001). In the adjusted model, cancer patients with one treatment cancellation (Coef: 0.195, 95%CI: 0.089-0.302) and those with two/more cancellations (Coef: 0.379, 95%CI: 0.255-0.504) had a significantly higher risk of psychological health impacts than those with no treatment cancellations.<b>Conclusion:</b> More than half of our sample of primarily adult female cancer patients reported major psychological health effects due to COVID-19. Cancer patients who experienced at least one treatment cancellation had a higher risk of psychological health consequences than those who did not. The implications of our findings and how to mitigate the impact of COVID-19 on oncology service disruptions are discussed.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134196","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":"Extreme Reactive Thrombocytosis Caused by Obstructive Nephrolithiasis and Pyelonephritis.","authors":"Jeffrey Zhong, Clifford D Packer","doi":"10.3121/cmr.2024.1899","DOIUrl":"10.3121/cmr.2024.1899","url":null,"abstract":"<p><p>Platelet counts in reactive thrombocytosis rarely exceed 1000 × 10<sup>9</sup>/L. We present the case of a male patient, aged 80 years, with quiescent rheumatoid arthritis who was found to have a platelet count of 1011 × 10<sup>9</sup>/L on routine laboratory testing. The patient was initially asymptomatic but developed leukocytosis to 23.1 × 10<sup>9</sup>/L on hospital day 2. Diagnostic work-up revealed obstructive nephrolithiasis and pyelonephritis, and the thrombocytosis and leukocytosis gradually resolved with empiric antibiotic treatment and ureteral stent placement. Tests for myeloproliferative disorders, including JAK-2V617F mutation, BCR-ABL for chronic myeloid leukemia and acute lymphocytic leukemia, and myeloproliferative neoplasms (MPL/CALR), were negative. Physicians should be aware that in rare cases reactive thrombocytosis can exceed 1000 × 10<sup>9</sup>/L, and that markedly elevated platelet counts in the setting of urinary tract infections may be an early sign of obstructive uropathy.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134197","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}
Ibrahim Ahmad Bhatti, Maleeha Saqib, Ibad Ur Rehman, Saman Amjed, Hashim Talib Hashim, Arsalan Ahmed Butt
{"title":"Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.","authors":"Ibrahim Ahmad Bhatti, Maleeha Saqib, Ibad Ur Rehman, Saman Amjed, Hashim Talib Hashim, Arsalan Ahmed Butt","doi":"10.3121/cmr.2024.1867","DOIUrl":"10.3121/cmr.2024.1867","url":null,"abstract":"<p><p>Alkaptonuria is an inborn error of metabolism inherited as an autosomal recessive disorder due to a mutation in the homogentisic acid dioxygenase gene. It occurs rarely (global prevalence of alkaptonuria is 1 in 100,000 to 250,000), and mainly affects the joints and connective tissue of the body due to deposition of homogentisic acid giving affected areas a blue-black discoloration (ochronosis).In this case report, we present a male patient, aged 47 years, with joint and scleral involvement. He had been diagnosed many years ago with the disease by gas chromatography. His symptoms kept progressively worsening since he was recently prescribed physiotherapy and vitamin C for his disease, which has not been shown to be an effective treatment. A main reason for his disease deterioration was also the lack of nitisinone availability in his home country, as well as in the subcontinent region generally. We also presen a summary of some previously reported cases and treatment regimens to compare our case and present the comparison as a learning source for future physicians.</p>","PeriodicalId":47429,"journal":{"name":"Clinical Medicine & Research","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134198","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}