Case Reports in Medicine最新文献

{"title":"A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR-AN Syndrome ''Case Report\".","authors":"Ramin Alizadeh Gheshlagh, Senay Topsakal","doi":"10.1155/carm/5825601","DOIUrl":"https://doi.org/10.1155/carm/5825601","url":null,"abstract":"<p><p>Hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN) syndrome is a distinct and uncommon form of polycystic ovarian syndrome. It manifests through hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN), along with symptoms like acne, hirsutism, irregular menstruation, and other androgen-related issues. A 17-year-old female with a history of childhood obesity and irregular menstrual cycles presented with weight gain and amenorrhea. Previously assessed for hirsutism with a Ferriman-Gallwey score of 14, she was found to have hepatic steatosis, ovarian cysts, and IR. She was advised to lose weight and prescribed metformin but did not adhere to the treatment. Four years later, she returned with further weight gain and hirsutism and was diagnosed with androgenetic alopecia. The presence of AN, HA, and severe IR led to a diagnosis of HAIR-AN syndrome, and she was placed under observation. We used next-generation sequencing (NGS) to screen 70 genes for mutation and identify relevant genetic variations. The investigation targeted all exons and exon-intron junctions in genes, including ACOX1, GM2A, ACSF3, and others. Bioinformatics tools and in silico algorithms were used to assess the impact of the variants. No significant mutations associated with the patient's symptoms were identified. HAIR-AN syndrome can present in various forms and should be considered in cases of unexplained AN and menstrual irregularities. Early detection, diagnosis, and treatment of HAIR-AN syndrome can alleviate symptoms and improve patients' quality of life. This case presentation aims to evaluate the findings of a HAIR-AN syndrome that became very severe due to treatment noncompliance.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5825601"},"PeriodicalIF":0.8,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981713","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":"Intra-Articular Osteoid Osteoma of the Trapezoid Bone: A Rare Presentation Mimicking Wrist Synovitis.","authors":"Khadija Baccouche, Rym Fakhfekh, Dhouha Khalifa, Haifa Hachfi, Cyrine Daldoul, Nejla Elamri, Elyes Bouajina","doi":"10.1155/carm/7648066","DOIUrl":"https://doi.org/10.1155/carm/7648066","url":null,"abstract":"<p><p>Osteoid osteomas predominantly occur in the cortices of long bones, with the femur and tibia being the most commonly affected sites. However, they can occasionally present in atypical locations, such as the carpus, which can lead to diagnostic confusion with other conditions. This case report details an intraarticular osteoid osteoma in the trapezoid bone. Initial evaluations, including standard radiographs, joint ultrasound, and wrist MRI performed twice, initially pointed toward a diagnosis of wrist synovitis. This case underscores the diagnostic challenges posed by atypical presentations of osteoid osteomas. Given the edema present in the carpal bones alongside the synovitis, we performed a hand CT scan, which raised doubts about the appearance of the nidus and histopathological examination confirmed the diagnosis. Clinical symptoms, including pain and functional limitations, were completely resolved following surgical excision.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"7648066"},"PeriodicalIF":0.8,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12052425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970717","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":"Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study.","authors":"Filomena Mottola, Renata Finelli, Veronica Feola, Kristian Leisegang, Lucia Rocco","doi":"10.1155/carm/9935363","DOIUrl":"https://doi.org/10.1155/carm/9935363","url":null,"abstract":"<p><p>This case report describes a 39-year-old phenotypically normal male patient of a married couple with primary infertility presenting as candidates for assisted reproductive techniques. The medical history of the couple is unremarkable, with both partners phenotypically normal. Semen analysis revealed oligoasthenzoospermia (OAT), 15% sperm DNA fragmentation and 4% aneuploidies in the sperm nuclei. Genetic analysis showed no Y chromosome of cystic fibrosis transmembrane conductance regulator gene mutations. Karyotype analysis in the male partner revealed a small supernumerary marker chromosome (sSMC) derived from chromosome 15, specifically inverted and duplicated (inv dup(15)) corresponding to the 15q11.2 region but lacking the Prader-Willi/Angelman syndrome critical region (PWACR). Further investigations revealed that 35% of the patient's spermatozoa carried the sSMC(15). This case study highlights the potential association between the presence of an inv dup(15) sSMC, without the involvement of the PWACR, and male infertility. sSMC(15) may disrupt spermatogenesis and contribute to oligoasthenozoospermia in males with primary infertility. Further research into the association of mechanism mechanisms of male infertility related to the 15q11.2 region is warranted.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9935363"},"PeriodicalIF":0.8,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977651","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":"A 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.","authors":"Riccardo Alcidi, Tommaso Campanella, Rosa Curcio, Lorenzo Chiatti, Alessio Arrivi, Lucia Ferranti, Giovanni Carreras, Mauro Barabani, Giacomo Pucci","doi":"10.1155/carm/5525411","DOIUrl":"https://doi.org/10.1155/carm/5525411","url":null,"abstract":"<p><p>A 29-year-old Moroccan with oculocutaneous albinism presented with a history of exertional dyspnea, recurrent epistaxis, and bacterial infections, raising suspicion of Hermansky-Pudlak syndrome (HPS). Further evaluation revealed neutropenia, impaired platelet function, pulmonary fibrosis, and mild pulmonary hypertension. An ECG identified ventricular pre-excitation with a postero-septal right accessory pathway, consistent with Wolff-Parkinson-White (WPW) syndrome. Genetic testing confirmed a homozygous mutation in the <i>AP3B1</i> gene and a diagnosis of Type 2 HPS (HPS-2) was made. HPS-2 is an extremely rare disorder, and to our knowledge, the co-occurrence of WPW syndrome has not been previously reported in literature. We propose a potential causal link between these two conditions, as mutations in the <i>AP3B1</i> gene-which encodes the beta subunit of the adapter protein 3 trafficking complex-result in mistrafficking of transmembrane proteins from the endosomal and trans-Golgi network to lysosomes and endosome-lysosome-related organelles. Specifically, the dysfunction of a transmembrane protein, namely the lysosome-associated membrane protein 2 (LAMP-2), has been implicated in the development of cardiac accessory pathways, as seen in Danon disease. We hypothesize that individuals with HPS-2 may have a genetic predisposition to WPW syndrome, and this hypothesis should be investigated in further studies.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5525411"},"PeriodicalIF":0.8,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12041638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954907","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":"A Not-So-Sweet Crohn's Disease: A Case Report of Ileocecal Crohn's Disease Unmasked by Sweet Syndrome.","authors":"Amir Omar, Rayane Salameh, Karam Karam, Chakib Khoury, Elias Fiani","doi":"10.1155/carm/6680526","DOIUrl":"https://doi.org/10.1155/carm/6680526","url":null,"abstract":"<p><p>Sweet syndrome (SS) is an acute febrile neutrophilic dermatosis characterized by a constellation of clinical symptoms and histologic findings: pyrexia, neutrophilia, and tender and erythematous cutaneous lesions (plaques, nodules, and papules) with neutrophilic infiltration of the upper reticular dermis. SS can be either an inflammatory disease or a hypersensitivity disorder. SS has been associated with autoimmune disease, such as inflammatory bowel disease (IBD), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and sarcoidosis. We herein present a case of a 70-year-old white male presenting for persistent fevers, rash, intermittent diarrhea, and hematochezia. The patient had marked improvement of his clinical symptoms following systemic corticosteroid treatment. He was diagnosed with SS and ileocecal Crohn's disease (CD). This article highlights the need to rule out CD in the setting of SS and gastrointestinal (GI) manifestations.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6680526"},"PeriodicalIF":0.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12037254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985694","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":"Seronegative Disseminated Cryptococcosis: A Case Report.","authors":"Maria Roell, Kevin Baker","doi":"10.1155/carm/5564622","DOIUrl":"https://doi.org/10.1155/carm/5564622","url":null,"abstract":"<p><p>Cryptococcal infection is a major cause of morbidity and mortality in immunocompromised patients, especially those with HIV/AIDS. The cryptococcal antigen (CrAg) lateral flow assay (LFA) has become an essential diagnostic tool due to its high sensitivity, specificity, and ability to produce rapid results. However, this test is not without limitations. This case details a patient with disseminated cryptococcosis with a negative serum CrAg LFA and an unremarkable brain MRI to demonstrate the importance of cerebrospinal fluid testing in high-risk immunocompromised individuals.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5564622"},"PeriodicalIF":0.8,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972774","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":"Challenges in Diagnosing Necrotizing Sarcoid Granulomatosis: The First Case Reported From Indonesia.","authors":"Gurmeet Singh, Ramadhan Karsono, Soedarman Sjamsoe, Muhammad Rizki Triono, Rina La Distia Nora, Devi Felicia, Fajar Lamhot Gultom, Daniel Ruslim, Arif Sejati, Ralph Girson Gunarsa, Ceva Wicaksono Pitoyo, Cleopas Martin Rumende","doi":"10.1155/carm/3219868","DOIUrl":"https://doi.org/10.1155/carm/3219868","url":null,"abstract":"<p><p>Necrotizing sarcoid granulomatosis (NSG) is a rare disease characterized by granulomatous and necrotic features as well as vasculitis, and it primarily affects the lungs, with occasional extrapulmonary manifestations. The first documented case was in Jakarta, Indonesia. A 71-year-old male presented with prolonged fever, a neck mass, and multiple mediastinal lymphadenopathy. The disease was initially suspected as lung tuberculosis, but a surgical biopsy of the left thyroid lobe confirmed the NSG pattern. Treatment with oral prednisolone led to positive outcomes, as evidenced by radiological improvement at the 3-month follow-up. This case report aims to emphasize the challenges and the importance of clinician awareness in diagnosing NSG.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3219868"},"PeriodicalIF":0.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976758","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":"A Case of AIDS Diagnosed in the Intensive Care Unit with Concurrent Influenza Infection and <i>Pneumocystis jirovecii</i> Pneumonia.","authors":"Yeliz Özdemir, İlhan Bahar, Gülfem Ece","doi":"10.1155/carm/5588716","DOIUrl":"https://doi.org/10.1155/carm/5588716","url":null,"abstract":"<p><p><b>Introduction:</b> People living with HIV (PLWH) are highly susceptible to respiratory infections, particularly pneumonia, which is often polymicrobial. A rapid decline in CD4 T lymphocytes, especially with concurrent influenza, increases the risk of <i>Pneumocystis jirovecii</i> pneumonia (PCP). <b>Case Presentation:</b> This report discusses a newly diagnosed Acquired Immunodeficiency Syndrome (AIDS) patient with influenza and PCP coinfection, highlighting diagnosis, follow-up, and prognosis. <b>Conclusions:</b> Community-acquired pneumonia is common in PLWH, especially among those not receiving antiretroviral therapies (ART). Co-infections with bacterial, viral, and fungal pathogens are common. Early identification of etiological agents and prompt treatment are crucial for improving patient outcomes.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5588716"},"PeriodicalIF":0.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980654","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":"Assessing Intervertebral Disk Tissue Mechanics Using Dual-Actuator Multifrequency Magnetic Resonance Elastography: Case Reports.","authors":"Johannes Castelein, Tue Secher Jensen, Ronald Borra, Karen Kettless, Lau Brix, Greg Kawchuk","doi":"10.1155/carm/5383659","DOIUrl":"https://doi.org/10.1155/carm/5383659","url":null,"abstract":"<p><p><b>Background:</b> Degenerative disk disease (DDD) is a progressive condition that occurs when the intervertebral discs (IVDs), which act as shock absorbers between the vertebrae, degenerate or wear out. Due to this degeneration process, the mechanical properties of the IVD, providing flexibility between adjacent vertebrae, can change. Thus, assessing these mechanical properties may improve diagnosis and treatment guidance for DDD. In this article, we tested in vivo multifrequency magnetic resonance elastography (MMRE) of the human IVD in identifying progressively DDD in three asymptomatic male volunteers aged 32, 50, and 60 years. <b>Methods:</b> MMRE of the lumbar spine was acquired using a dual-actuator setup and operated at four frequencies from 60 to 90 Hz. MMRE data were postprocessed using multifrequency wave-number recovery (k-MDEV) inversion algorithm. The resulting shear wave speed (SWS) values were used as a surrogate parameter of tissue stiffness and then compared to Pfirrmann grading (Pf) of disc degeneration (1-5) performed by an experienced MRI spine researcher. <b>Results:</b> Morphological Pf demonstrated an inverse relationship between increasing IVD stiffness and progressive IVD degeneration by a Spearman's rank correlation coefficient of <i>ρ</i> = -0.792, <i>p</i> < 0.001. <b>Conclusion:</b> MMRE allows measurement of in vivo mechanical properties of IVDs and may provide additional information in disc degeneration beyond standard morphological changes. Prior to the clinical use of this technique, future studies should be conducted to evaluate the reproducibility and repeatability of spinal MMRE in the spine, and particularly its potential confounders.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5383659"},"PeriodicalIF":0.8,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12009675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985280","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":"A Diagnostic and Therapeutic Approach to Retained Anchoring Sutures: Color Doppler Ultrasound for Diagnosing and the Retract-and-Cut Technique for Minimizing Invasive Interventions.","authors":"Ali Hajihashemi, Reza Tavakoli, Mahsa Geravandi","doi":"10.1155/carm/3019138","DOIUrl":"https://doi.org/10.1155/carm/3019138","url":null,"abstract":"<p><p><b>Background:</b> Retained sutures following catheterization procedures are rare but can present significant diagnostic and therapeutic challenges. This case highlights a novel approach to diagnosing and managing a retained anchoring suture following catheter removal for abdominal fluid drainage in a patient with pancreatic adenocarcinoma and metastatic ascites. The use of color Doppler ultrasound to identify the suture's path and the application of the retract-and-cut technique minimized invasive interventions, demonstrating a safe and effective alternative to surgical removal. <b>Case Presentation:</b> A 68-year-old male with pancreatic adenocarcinoma and metastatic ascites underwent subhepatic fluid drainage using an 8Fr pigtail catheter. After successful drainage and catheter removal, the patient presented with localized pain and tenderness at the catheter insertion site. Ultrasound revealed a hyperechoic linear structure in the subcutaneous tissue suggestive of a retained suture. Real-time visualization using color Doppler ultrasound confirmed the suture's path as a linear Doppler signal was observed during manipulation. Given the adhesion of the suture to deeper tissues, the retract-and-cut technique was employed. The suture was gently pulled taut at the skin surface, cut, and allowed to retract along its original track, avoiding unnecessary trauma. The patient experienced no recurrence of symptoms, fluid collection, or infection during long-term follow-up. <b>Conclusions:</b> This case underscores the importance of timely diagnosis using color Doppler ultrasound, which provided real-time visualization of the retained suture and its relationship with surrounding tissues. In addition, the retract-and-cut technique offers a minimally invasive and effective approach for managing retained sutures, avoiding the need for surgical intervention. This method ensures patient comfort and safety, particularly in palliative care settings where nonsurgical options are prioritized.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3019138"},"PeriodicalIF":0.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977896","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}