OpenMed/multicare-articles huggingface dataset:
Case report: Magnetic resonance imaging findings of patients with diffuse uterine leiomyomatosis
Authors: Zanhua Zhang, Xianhui Lin, Xue Wang, Fang He, Weiwei Cai, Xiaoyan Min, Fei Xiang
Journal: Front Oncol (2024)
Keywords: case report, differential diagnosis, diffuse uterine leiomyomatosis, magnetic resonance imaging, preoperative diagnosis
MeSH terms: Case Reports

Background:
Diffuse uterine leiomyomatosis (DUL) is a seldom-seen condition, with only a handful of cases of magnetic resonance imaging (MRI) findings documented. In clinical settings, it is often mistaken for multiple uterine leiomyomas due to a lack of adequate recognition of DUL.
Objective:
This study shows two instances of DUL, underscoring their MRI findings to improve preoperative diagnostic precision.
Conclusion:
For patients exhibiting multiple uterine leiomyomas with masses present in the parametrial and abdominal cavities, consideration should be given to diagnosing DUL with DPL. The discoveries outlined in this paper furnish insights that can assist in directing treatment choices.
Osteolytic lesions as a presenting sign of acute myeloid leukemia: a case report
Authors: Jingqian Zhang, Shidai Mu, Li Cai, Lisha Ai, Yaohui Wu
Journal: Front Oncol (2024)
Keywords: acute myeloid leukemia, case report, diagnosis, myeloid sarcoma, osteolytic lesions, pancytopenia
MeSH terms: Case Reports

Osteolytic lesions are infrequently observed in adult patients with acute myeloid leukemia (AML). This report details the case of a 66-year-old male patient who presented with myeloid sarcoma (MS), osteolytic lesion and pancytopenia. Effective treatments were delayed due to diagnostic challenges and the rapid progression of the disease. It is essential to consider AML in the differential diagnosis when faced with a patient presenting osteolytic lesions and pancytopenia.
Primary Synovial Sarcoma of the Scrotum
Authors: Nourah Al-Oudah, Sara Alanazi, Sarah Saad Alotaibi, Nayef Alzahrani
Journal: Case Rep Pathol (2023)
MeSH terms: Case Reports

The report outlines a case of synovial sarcoma in the scrotal region. A 36-year-old male presented with a scrotal swelling. The lesion was completely resected, whereas the histopathologic examination revealed a spindle cell tumor. The tumor stained positive for pancytokeratin, AE1/AE3, epithelial membrane antigen (EMA), TLE-1, CD99, and BCL-2. The cytogenetic testing showed a chromosomal translocation in the SS18 gene at 18q11.2, consistent with the diagnosis of primary synovial sarcoma. A year later, the patient developed liver, vertebrae, and lung metastasis, which was treated with systemic chemotherapy. Treatment failed to improve the hepatic lesion that was then resected, while the spine and lung lesions were followed by radiotherapy. The patient is now alive and subject to an outstanding follow-up.
Modified clock mapping biopsy sec. Della Corte-Bifulco in the preoperative assessment of excisional surgery for vulvar Paget's disease
Authors: Luigi Della Corte, Mario Ascione, Giuseppe Bifulco
Journal: Pathol Oncol Res (2024)
Keywords: extramammary paget’s disease of the vulva, gynecological cancer, new technique, preoperative biopsy, vulvar malignant lesion
MeSH terms: Paget Disease, Extramammary / pathology, Paget Disease, Extramammary / surgery, Vulvar Neoplasms / pathology, Vulvar Neoplasms / surgery, Case Reports, Aged, Biopsy / methods, Female, Humans, Preoperative Care / methods

We have developed a biopsy technique aimed at preoperative evaluating the extent of Paget's vulvar disease in order to plan subsequent radical vulvar surgery. The aim is to find all possible lesion sites that are not visible macroscopically, to obtain a clear evaluation of the disease spread and to tailor the radical surgical procedure to remove even microscopic lesions, avoiding recurrences and excessively destructive surgery, adopting as conservative an approach as possible. We used this procedure for the first time to establish the radicality of the surgical intervention in a 68-year-old patient initially suffering from a single invasive vulvar Paget's lesion.
Brain development of a school-aged boy with autism spectrum condition talented in arithmetic: a case report
Authors: Weixing Zhao, Lei Li, Xiujie Yang, Xiaotian Wang, Juan Kou, Jia Chen, Huafu Chen, Qi Wang, Xujun Duan
Journal: Psychoradiology (2024)
Keywords: autism spectrum condition, arithmetic talent, case report, gray matter, magnetic resonance imaging, voxel-based morphometry
MeSH terms: Case Reports

Whereas autism spectrum condition is known for its social and communicative challenges, some autistic children demonstrate unusual islets of abilities including those related to mathematics, the neurobiological underpinnings of which are increasingly becoming the focus of research. Here we describe an 8-year-old autistic boy with intellectual and language challenges, yet exceptional arithmetic ability. He can perform verbal-based multiplication of three- and even four-digit numbers within 20 seconds. To gain insights into the neural basis of his talent, we investigated the gray matter in the child's brain in comparison to typical development, applying voxel-based morphometry to magnetic resonance imaging data. The case exhibited reduced gray matter volume in regions associated with arithmetic, which may suggest an accelerated development of brain regions with arithmetic compared to typically developing individuals: potentially a key factor contributing to his exceptional talent. Taken together, this case report describes an example of the neurodiversity of autism. Our research provides valuable insights into the potential neural basis of exceptional arithmetic abilities in individuals with the autism spectrum and its potential contribution to depicting the diversity and complexity of autism.
Case report: Cerebrotendinous xanthomatosis treatment follow-up
Authors: Karolina Ejsmont-Sowała, Tomasz Książek, Katarzyna Maciorowska-Rosłan, Joanna Rosłan, Agata Czarnowska, Anna Jakubiuk-Tomaszuk, Joanna Tarasiuk, Katarzyna Kapica-Topczewska, Alina Kułakowska
Journal: Front Neurol (2024)
Keywords: cdca, ctx, cyp27a1, cerebrotendinous xanthomatosis, chenodeoxycholic acid
MeSH terms: Review

Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient's genetic profile. The result of the mutation is disorder of cholesterol synthesis and the accumulation of its precursors in tissues. The characteristic symptoms are progressive cerebellar ataxia, cataract, diarrhea, and the deposition of cholesterol in the tendons. Our objective is to follow-up information to treatment efficacy of 22-year-old patient diagnosed with cerebrotendinous xanthomatosis through 1.5 year observation. In 2012, an 11-year-old patient with a long history of deformed feet and frequent yellowing of the skin, was admitted to the Department of Neurology due to seizures. In 2013, the patient began to suffer from diarrhea, and its frequency was correlated with the concentration of bilirubin in the blood. In the same year cataract was diagnosed. Gradually, the patient starts to complain about progressive difficulties in moving. In 2019, genetic tests confirmed the diagnosis of cerebrotendinous xanthomatosis. Since July 2021, the patient has been treated with chenodeoxycholic acid. The deterioration of patient's mobility has been significantly inhibited, consequently his quality of life has improved. The presented case report underscores the efficacy of CDCA supplementation in halting the progression of CTX, resulting in marked improvements in the patient's quality of life.
Haematologic and Urologic Manifestations of Cryptococcus neoformans
Authors: Jessica Morgan, John Vardanega, Mimi Yue, Ian Gassiep
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Cryptococcus neoformans classically causes pulmonary and central nervous system (CNS) infection in immunocompromised hosts and can lead to disseminated disease. Two cases of atypical cryptococcal infection are presented-an elderly Human Immunodeficiency Virus- (HIV-) negative male with a urinary source of infection and a young HIV-positive male with bone marrow infiltration complicated by haemophagocytic lymphohistiocytosis (HLH). A literature review of systemic cryptococcal infections involving the genitourinary tract and bone marrow was performed. These cases highlight the importance of clinicians considering uncommon manifestations of cryptococcal disease.
Dysphagia in a Patient With Lewy Body Dementia and Incidental Anterior Cervical Osteophyte: A Case Report
Authors: Gurjot Singh, Didar Singh, Gurleen Kaur, Piyush Puri, Tanya Ratnani, Ridhi Bhagat
Journal: Cureus (2024)
Keywords: alzheimer's disease, anterior cervical osteophytes, dementia, dementia with lewy body, lewy body dementia, rapid dementia, subacute dementia
MeSH terms: Case Reports

One of the common problems affecting the elderly is dysphagia, which can be brought on by several things, including the presence of anterior cervical osteophytes. In this case study, a patient with Lewy body dementia is shown to have a case of dysphagia. The patient's primary complaint was dysphagia, which prompted questions regarding the development of underlying Lewy body dementia combined with gradual cognitive deterioration and motor control problems. An upper GI endoscopy was conducted during the patient's hospitalization after a barium swallow suggested esophageal obstruction but found no internal obstruction or any other abnormalities. Following the endoscopic procedure, the patient complained of neck aches. An anterior cervical osteophyte was subsequently discovered by computed tomography, which may have been the primary cause of the patient's dysphagia. The importance of considering coexisting medical conditions in elderly individuals, as well as the significance of promptly assessing and diagnosing dysphagia in the presence of neurodegenerative disorders such as Lewy body dementia, is emphasized by this example.
Lip Repositioning Surgery: A Simple Smile and Life Transformation Procedure
Authors: Besir Salihu, Zana Agani, Arta Sinanaj Demiri
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Excessive display of the gums when smiling, known as gummy smiles, can lead to aesthetic concerns and emotional discomfort for individuals. In recent times, there has been a notable rise in the popularity of gummy smile surgery as a cosmetic procedure aimed at addressing this problem. A novel technique known as lip repositioning has emerged and gained recent popularity, either on its own or in conjunction with other approaches. In specific situations, it offers a simpler, less intricate alternative to more extensive surgical procedures, resulting in a pleasing and satisfactory camouflage effect while reducing postoperative complications. This case report illustrates the effective treatment of a gummy smile in a patient with excessive gum exposure using a lip repositioning technique. The procedure involved the removal of a partial thickness strip of mucosa lining in the maxillary buccal vestibule, without including the labial frenulum, and suturing the lip lining to the gum line. Our aim was to present lip repositioning as an effective method for reducing excessive gum exposure and addressing any unevenness in a minimally invasive manner. We sought a solution that offers long-lasting results over time while minimizing the chances of the issue recurring, with a 14-month follow-up.
Endobronchial Inflammatory Myofibroblastic Tumor in a 3-Year-Old Child
Authors: Riccardo Guanà, Andrea Carpino, Marta Miglietta, Elisa Zambaiti, Alessia Cerrina, Luca Lonati, Francesco Guerrera, Stefano Vallero, Salvatore Garofalo, Marco Bardessono, Francesca Maletta, Steffi Shilly, Fabrizio Gennari
Journal: European J Pediatr Surg Rep (2023)
Keywords: bronchoscopy, myofibroblastic tumor, thoracotomy
MeSH terms: Case Reports

Inflammatory myofibroblastic tumor (IMT) is a mesenchymal tumor that can occur at any age. However, it is primarily seen in children, with the most common site being in the lung parenchyma, usually present with rare endobronchial lesions. This case reports the incidence in a 3-year-old girl diagnosed with pericardiac pneumonia treated with antibiotics with no clinical improvement. A chest computed tomography (CT) scan identified a 1.5-cm lesion in the left main bronchus. Bronchoscopy revealed complete obstruction of the left main stem bronchus. A left posterolateral thoracotomy was performed. Additionally, a left sleeve upper bronchial resection was conducted under fibroendoscopic control. Definitive histology confirmed IMT. After 2 years of endoscopic follow-up, there is no evidence of recurrence.
Response to trametinib, hydroxychloroquine, and bevacizumab in a young woman with NRAS-mutated metastatic intrahepatic cholangiocarcinoma: a case report
Authors: Aram A Musaelyan, Ekaterina M Anokhina, Alina I Turdubaeva, Natalia V Mitiushkina, Anastasia N Ershova, Anna D Shestakova, Aigul R Venina, Evgeny N Imyanitov, Sergey V Orlov
Journal: Explor Target Antitumor Ther (2024)
Keywords: intrahepatic cholangiocarcinoma, nras mutation, bevacizumab, hydroxychloroquine, trametinib
MeSH terms: Case Reports

Systemic chemotherapy is the main treatment option for patients with advanced intrahepatic cholangiocarcinoma (iCCA), however, its efficacy is limited. Herein, we report a young patient with NRAS-mutated chemoresistant metastatic iCCA, who received second-line therapy with a combination of trametinib (MEK1/2 inhibitor), hydroxychloroquine (autophagy inhibitor), and bevacizumab (angiogenesis inhibitor). A significant response was achieved during therapy, resulting in a 25% decrease in the size of tumor lesions after 2 months of treatment and an improvement in the patient's condition. The duration of this response was 4 months, but the patient died 10 months after the initiation of this triple therapy. This case report and the analysis of other available studies warrant further investigations on combined MEK and autophagy inhibition in RAS-mutated tumors.
A Case Report of Drug Interactions Between Nirmatrelvir/Ritonavir and Tacrolimus in a Patient With Systemic Lupus Erythematosus
Authors: Nanae Yamamoto, Yuichi Tsuchiya, Mio Fukuda, Hiroaki Niiro, Takeshi Hirota
Journal: Cureus (2024)
Keywords: cyp3a, cytochrome p450 3a, drug interaction, ritonavir, systemic lupus erythematosus, tacrolimus
MeSH terms: Case Reports

Nirmatrelvir/ritonavir is a treatment for COVID-19 consisting of nirmatrelvir, which has anti-SARS-CoV-2 activity, and ritonavir, a booster to maintain blood levels. Ritonavir is known to be a potent inhibitor of cytochrome P450 3A (CYP3A), and interactions with CYP3A-metabolized drugs, such as the immunosuppressant tacrolimus, can be problematic. Ritonavir's inhibition of CYP3A is irreversible due to covalent binding, and its inhibitory effects are expected to persist until replaced by new CYP3A. Here, we report a case where the combination of nirmatrelvir/ritonavir and tacrolimus resulted in toxic tacrolimus blood levels. A patient on tacrolimus for systemic lupus erythematosus (SLE) developed COVID-19 and was prescribed nirmatrelvir/ritonavir. After starting the combination of nirmatrelvir/ritonavir and tacrolimus, the patient's tacrolimus blood levels became abnormally high, leading to the discontinuation of these drugs due to symptoms of tacrolimus toxicity. Even after ritonavir blood levels had fallen below the detection limit, the decline in tacrolimus blood levels was delayed. The CYP3A inhibition of ritonavir persists even when its blood concentration decreases, emphasizing the need for careful consideration of concomitant medications before starting nirmatrelvir/ritonavir therapy. Adjustments or discontinuation may be necessary.
Case report: Management of recurrent pupillary optic capture with sutureless surgical technique using 7-0 polypropylene flange
Authors: Dong Hyeon Kim, Da Ru Chi Moon, Yong Koo Kang, Dong Ho Park, Jae Pil Shin, Dai Woo Kim, Jae Rock Do
Journal: Front Med (Lausanne) (2024)
Keywords: 7–0 polypropylene flange, flanged intraocular lens fixation, intraocular lens dislocation, pupillary optic capture, sutureless
MeSH terms: Case Reports

Background:
To report a novel surgical technique for recurrent pupillary optic capture after flanged intraocular lens (IOL) fixation.
Methods:
In this retrospective case series, we detail our use of two parallel 7-0 polypropylene sutures passed between the iris plane and the optic of scleral-fixated IOL to address pupillary optic capture. Flanges were created using ophthalmic cautery to secure it to the sclera without suture.
Results:
Two eyes with pupillary optic capture underwent a sutureless surgical technique using 7-0 polypropylene flanges. No recurrences of pupillary optic capture were observed during the 1-year follow-up.
Conclusion:
Our sutureless surgical technique using a 7-0 polypropylene flange was an effective, efficient, and less invasive approach for treating recurrent pupillary optic capture.
Challenges in Diagnosing Dermoid Cyst in a Neurocognitive Patient
Authors: Alaa Safia, Rabie Shehadeh, Shlomo Merchavy
Journal: Case Rep Pediatr (2024)
MeSH terms: Case Reports

This case report presents a unique and challenging scenario involving the diagnosis and management of a sublingual dermoid cyst in a 12-year-old male with autism disorder. Dermoid cysts within the oral cavity are exceptionally rare entities, constituting less than 0.01% of all oral cavity cysts. In addition, their co-occurrence with neurocognitive disorders further complicates the diagnostic process. The patient's clinical presentation was marked by recurrent epistaxis and behavioral changes, which were compounded by his communication limitations due to autism disorder. A thorough physical examination revealed a sublingual mass causing tongue displacement. However, due to the patient's inability to effectively communicate symptoms, parental input played a pivotal role in constructing the clinical narrative. Imaging techniques, including computed tomography (CT) and magnetic resonance imaging (MRI), provided essential insights into the cyst's size, location, and structural characteristics. The successful integration of these modalities aided in achieving a definitive diagnosis. The subsequent intraoral surgical excision of the 6.5 cm cyst yielded a positive outcome, with an uneventful recovery and a six-month follow-up demonstrating no signs of recurrence. This report underscores the significance of multidisciplinary collaboration in navigating the complexities of diagnosing and managing rare oral lesions in patients with neurocognitive disorders. The confluence of two rare conditions necessitates a tailored approach that takes into account communication barriers and the patient's overall well-being. This case offers valuable insights to healthcare practitioners, highlighting the importance of leveraging advanced imaging technologies and adapting strategies to address the unique challenges posed by such cases. By presenting this exceptional clinical scenario, this report contributes to the medical community's understanding of nuanced diagnostic processes and patient-centered management techniques.
Genitourinary Blastomycosis in a Young Male Patient: A Case Report and Review of Diagnostic Challenges
Authors: Emily Hillman, Hangcheng Fu, Randa Obid, Uzoma A Anele
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Disseminated blastomycosis is an endemic fungal infection that rarely manifests with genitourinary involvement. We present a unique case of a 28-year-old professional male gamer with a remote history of hemoptysis and cervical lymphadenopathy who presented with hematospermia, lower urinary tract symptoms (LUTS), and persistent groin abscesses after left orchiectomy at an outside hospital. He underwent drainage of groin abscess and prostate biopsy for an abnormal digital rectal exam which revealed disseminated blastomycosis requiring systemic, long-term antifungal treatment. We have also included a review of literature to note clinical patterns in presentations and highlight the diagnostic challenges that this infection presents.
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
Authors: Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz
Journal: Front Genet (2024)
Keywords: chn1, congenital dysinnervation syndromes, genetic diagnosis, moebius syndrome, novel variant
MeSH terms: Case Reports

Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, PLXND1 and REV3L have been identified to cause MBS. Results: We present a 9-year-old male clinically diagnosed with MBS, presenting facial palsy, altered ocular mobility, microglossia, dental anomalies and congenital torticollis. Radiologically, he lacks both abducens nerves and shows altered symmetry of both facial and vestibulocochlear nerves. Whole-exome sequence identified a de novo missense variant c.643G>A; p.Gly215Arg in CHN1, encoding the α2-chimaerin protein. The p.Gly215Arg variant is located in the C1 domain of CHN1 where other pathogenic gain of function variants have been reported. Bioinformatic analysis and molecular structural modelling predict a deleterious effect of the missense variant on the protein function. Conclusion: Our findings support that pathogenic variants in the CHN1 gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes. We propose to include CHN1 in the genetic diagnoses of MBS.
Unveiling the Uncommon: A Case of Metastatic Ewing Sarcoma of the Kidney
Authors: Ahmed D Khudair, Aiman D Khudair, Thuraiya Al-Rawahia, Rachel A Marshall, Khalifa Albenjasim, Mahera Roohi, Ziad Al Naib
Journal: Cureus (2024)
Keywords: chemotherapy, ewing sarcoma, ewing sarcoma of the kidney, extraosseous ewing sarcoma, metastasis
MeSH terms: Case Reports

Primary Ewing sarcoma of the kidney (ESK) is a rare and aggressive entity, with a poor prognosis. It often presents as metastatic disease with the lungs being the most common site. In adults, the occurrence of these tumors is uncommon, with patients exhibiting non-specific symptoms such as weight loss, flank pain, hematuria, and an abdominal mass. The combination of these vague clinical symptoms and the rarity of these tumors often results in a delayed diagnosis, leading to poorer outcomes for these patients. We present a case of a 38-year-old female with metastatic ESK. The patient initially presented with abdominal pain, vomiting, and a four-day history of constipation. The diagnosis was confirmed through computed tomography scans, ultrasound-guided biopsy of the lesion, and fluorescence in situ hybridization that revealed translocation of the EWS gene on chromosome 22q12. She was managed with chemotherapy regimens and palliative care; however, the disease progressed and she passed away six months after her initial diagnosis.