OpenMed/multicare-articles huggingface dataset:
Relapse of COVID-19 and Viral Evolution in a Patient With Good Syndrome: A Case Report
Authors: Mika Iwasaki, Masao Hashimoto, Junko S Takeuchi, Yusaku Kusaba, Moto Kimura, Junko Terada-Hirashima, Wataru Sugiura, Masayuki Hojo
Journal: Cureus (2024)
Keywords: covid-19, good syndrome, relapse, sars-cov-2, viral evolution
MeSH terms: Case Reports

Delays in clearance and rapid evolution of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported in immunocompromised patients. We encountered a case of recurrent, multi-mutational SARS-CoV-2 infection in a 40-year-old man with severe immunodeficiency due to Good syndrome. The patient had not received the SARS-CoV-2 vaccination. In August 2021, he was first admitted to the hospital owing to coronavirus disease 2019 (COVID-19) pneumonia and was administered dexamethasone, remdesivir, and baricitinib. Although his fever and respiratory condition improved once, chest computed tomography (CT) revealed extensive diffuse consolidation and ground-glass opacities (GGOs), and both methylprednisolone pulse therapy and tocilizumab yielded a limited effect. After a third course of remdesivir without immunosuppressants or steroids, the patient recovered, and he tested negative for SARS-CoV-2. On day 272 since the clinical onset, he was readmitted with dyspnea and mild fever due to a COVID-19 recurrence. He was infected with the Delta variant (AY.29), despite the Omicron (BA.2) variant being predominant at that time. During this admission, additional remdesivir and casirivimab/imdevimab yielded marked effects, and the SARS-CoV-2 quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) tests rapidly returned negative. Phylogenetic analysis demonstrated the accumulation of mutations, including those yielding remdesivir resistance, throughout the SARS-CoV-2 genome. Appropriate use of antivirals and monoclonal antibodies may aid in the recovery of patients with COVID-19 and immunodeficiency and in preventing the emergence of multi-mutational SARS-CoV-2 variants.
Phenocopy in a patient with triple negative breast cancer: a case report
Authors: Gustavo Henrique Morcelli da Costa, Eduarda Scoto Dias, Naiara Bozza Pegoraro, Camila Nemetz Kohler, Salmo Raskin, Liya Regina Mikami
Journal: Einstein (Sao Paulo) (2023)
MeSH terms: Breast Neoplasms / genetics, Triple Negative Breast Neoplasms / genetics, Case Reports, Adult, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Mutation, Phenotype

A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%-10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c.1813delA, p.Ile605TyrfsTer9 in BRCA2 . The patient underwent genetic testing for BRCA1 and BRCA2 and exome sequencing. Familial or other cancer variants were not detected. The most accepted phenocopy theory is that patients without genetic variants but who are carriers of these mutations undergo cellular changes due to environmental factors, increasing the risk of breast cancer. Therefore, the detection of phenocopy in patients with breast cancer is important in clinical practice.
Zinner Syndrome: The Diagnosis and Management of a Rare Urogenital Malformation
Authors: Lucinda Lau, Kishan S Patel, Frank Santisi, Rebecca Germaine, Sunil Jeph
Journal: Case Rep Radiol (2024)
MeSH terms: Case Reports

This case highlights an atypical but important consideration in young males presenting with persistent gastrointestinal and/or genitourinary symptoms. Zinner syndrome (ZS) develops from embryologic maldevelopment of the distal mesonephric duct, resulting in ejaculatory duct atresia with consequent obstruction of the seminal vesicle and concomitant ureteral bud malformation, leading to renal agenesis/dysplasia. The lack of distinct clinical symptoms makes ZS a difficult diagnosis to reach: Abdominal pain and dysuria are often mistaken for prostatitis or cystitis. However, the use of modern imaging modalities aids in establishing the diagnosis. Early identification of ZS may delay progression to infertility as the duct obstruction may not be as extensive, though further research is needed to establish this connection.
Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis
Authors: Pedro Miragaia, Ana Grangeia, Esmeralda Rodrigues, Raquel Sousa, Augusto Ribeiro
Journal: Cureus (2024)
Keywords: acute metabolic encephalopathy, metabolic encephalopathy, neurology and critical care, paediatric intensive care unit, pediatrics neurology
MeSH terms: Case Reports

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder characterized by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, leading to the toxic accumulation of leucine, isoleucine and valine. Acute encephalopathy (AE) is a severe neurological disorder with diverse etiologies, demanding prompt identification and intervention. We present a unique case of a previously healthy teenage patient who developed AE during an influenza infection. Despite initial inconclusive investigations, the patient's condition rapidly deteriorated, requiring pediatric intensive care unit (PICU) admission. Diagnostic challenges included fluctuating mental status and refractory intracranial hypertension, ultimately necessitating decompressive craniectomy. Empirical treatments, including corticosteroids, tocilizumab, and plasmapheresis, were administered. Finally, clinical exome analysis revealed a pathogenic variant in homozygosity in the BCKDHA gene associated with MSUD type Ia. Her adult sister, experiencing similar symptoms in the same time period, did not survive. This case underscores the importance of considering metabolic disorders in AE etiology, even accounting for its various associated syndromes and usual prolonged diagnostic investigation, as prompt treatment initiation is vital for improved outcomes. Management of AE involves addressing seizures, systemic support and neuromonitoring, namely, intracranial pressure monitoring. Inborn errors of metabolism, like MSUD, should be considered, even if universally screened, as delayed diagnosis can result in prolonged hospitalization and significant morbidity.
Case report: Novel use of clinical brain-computer interfaces in recreation programming for an autistic adolescent with co-occurring attention deficit hyperactivity disorder
Authors: Susannah Van Damme, Leslie Mumford, Aleah Johnson, Tom Chau
Journal: Front Hum Neurosci (2024)
Keywords: autism spectrum disorder, brain-computer interface, occupational therapy, participation, recreation
MeSH terms: Case Reports

Background:
In recent years, several autistic children and youth have shown interest in Holland Bloorview Kids Rehabilitation Hospital's clinical brain computer interface (BCI) program. Existing literature about BCI use among autistic individuals has focused solely on cognitive skill development and remediation of challenging behaviors. To date, the benefits of recreational BCI programming with autistic children and youth have not been documented.
Purpose:
This case report summarizes the experiences of an autistic male adolescent with co-occurring attention deficit hyperactivity disorder using a BCI for recreation and considers possible benefits with this novel user population.
Methods:
A single retrospective chart review was completed with parental guardian's consent.
Findings:
The participant demonstrated enjoyment in BCI sessions and requested continued opportunities to engage in BCI programming. This enjoyment correlated with improved Canadian Occupational Performance Measure (COPM) scores in BCI programming, outperforming scores from other recreational programs. Additionally, clinicians observed changes in social communication efforts and self-advocacy in this first autistic participant.
Conclusion:
The use of brain computer interfaces in recreational programming provides a novel opportunity for engagement for autistic children and youth that may also support skill development.
Post-craniotomy coronal suture diastases in a transformed lower grade glioma
Authors: Teresa Morais Pinheiro, Mariam Awan, Oliver Wroe-Wright, Prajwal Ghimire, Francesco Marchi, Ali Elhag, José Pedro Lavrador
Journal: J Surg Case Rep (2024)
Keywords: coronal suture diastasis, craniotomy, transformed lower grade glioma
MeSH terms: Case Reports

Cranial suture diastases are an uncommon clinical entity, with post craniotomy diastases being a previously undescribed finding in literature to our best knowledge. Herein, we report a case of a 28-year-old adult who underwent a second-stage low-grade glioma surgery 7 months after initial surgery. This study presents coronal suture diastases adjacent to the previously performed craniotomy. After literature and pathophysiology review, we found it to be unique and that the craniotomy can resemble the mechanical stress of trauma.
Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome
Authors: Xiaoqing Lang, Ting Wang, Shuping Guo, Yao Dang, Yingjie Zhang, Hongye Liu, Hongxia He, Li Li, Huajie Yuan, Ting He, Qiong Wang, Shiyu Qin, Runping Cheng, Xingquan Yan, Hongzhou Cui
Journal: Front Med (Lausanne) (2024)
Keywords: ptch1, case report, frameshift mutation, nevoid basal cell carcinoma syndrome, novel
MeSH terms: Case Reports

A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome. Gene panel sequencing and Sanger sequencing were used to identify a novel heterozygous frameshift mutation, c.1312dupA:p.Ser438Lysfs, in exon 9 of PTCH1. I-Tasser and PyMol analyses indicated that the mutated protein patched homolog 1 (PTCH1) lacked 12 transmembrane domains and the intracellular and extracellular rings of ECD2 compared with the wild-type protein, resulting in a remarkably different structure from that of the wild-type protein. This case extends our knowledge of the mutation spectrum of NBCCS.
Case report: Rubella virus-associated cutaneous granuloma in an adult with TAP1 deficiency
Authors: Qiaohui Wang, Huilin Su, Jiande Han, Juhua Yang, Naiyu Lin
Journal: Front Immunol (2024)
Keywords: tap1 deficiency, cutaneous granuloma, diagnosis, immunodeficiency, rubella virus
MeSH terms: ATP Binding Cassette Transporter, Subfamily B, Member 2 / deficiency, ATP Binding Cassette Transporter, Subfamily B, Member 2 / genetics, Granuloma / etiology, Granuloma / virology, Rubella virus / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Male, Mutation, Rubella / complications, Rubella / diagnosis, Rubella / immunology, Skin / pathology, Skin / virology, Skin Diseases / etiology, Skin Diseases / virology, ATP Binding Cassette Transporter, Subfamily B, Member 2, TAP1 protein, human

Rubella virus-associated granulomas commonly occur in immunocompromised individuals, exhibiting a diverse range of clinical presentations. These manifestations can vary from predominantly superficial cutaneous plaques or nonulcerative nodules to more severe deep ulcerative lesions, often accompanied by extensive necrosis and significant tissue destruction. TAP1 deficiency, an exceedingly rare primary immune-deficiency disorder, presents with severe chronic sino-pulmonary infection and cutaneous granulomas. This report highlights the occurrence of rubella virus-associated cutaneous granulomas in patients with TAP1 deficiency. Notably, the pathogenic mutation responsible for TAP1 deficiency stems from a novel genetic alteration that has not been previously reported. This novel observation holds potential significance for the field of diagnosis and investigative efforts in the context of immunodeficiency disorders.
Case report: Urothelial injury in a female with breast cancer: a rare adverse event after the combination of paclitaxel and trastuzumab
Authors: Tinghua Cao, Zhipei Duan, Jing Zhu, Jing Wu, Jun Chen, Mingjun Jiang, Xialiang Lu, Yan Li
Journal: Front Oncol (2024)
Keywords: adverse events, case report, paclitaxel, trastuzumab, urinary tract infection, urothelial injury
MeSH terms: Case Reports

Several breast cancer (BC) patients showed urinary tract infection after adjuvant trastuzumab plus paclitaxel, but no case of urothelial injury has been reported. In this case, we report a 47-year-old female patient with stage I invasive ductal carcinoma in the left breast presenting with urothelial injury after the combination of trastuzumab and paclitaxel. Initially, the patient was highly suspected of having urinary tract infection as she showed abdominal and low back pain, as well as urinary irritation symptoms and hematuria. Unfortunately, the conditions were not attenuated after anti-infection therapy. Contrast-enhanced CT showed extensive exudation and edema in the bilateral renal pelvis, ureter, and bladder, together with dilatation and effusion in the renal pelvis and ureter. Cystoscopy showed extensive congestion, edema, and erosion in the bladder epithelium. Pathological analysis demonstrated slight thinning or even loss in the uroepithelial cell layer and interstitial congestion. In addition, there was growth arrest in the epithelial cells. Immunohistochemistry indicated HER2 expression in the urothelial cells. Finally, the patient was diagnosed with urothelial injury after combination of paclitaxel and trastuzumab. The symptoms were spontaneously cured with no administration of any antibiotics in the 3-month follow-up.
Challenges in the management of operable triple-negative breast cancer in a survivor of the B-cell acute lymphoblastic leukemia: a case report
Authors: Tina Pavlin, Ana Blatnik, Boštjan Šeruga
Journal: Front Oncol (2024)
Keywords: acute lymphoblastic leukaemia, case report, follow-up, genetic testing, second primary cancer, triple negative breast cancer
MeSH terms: Case Reports

Background:
Operable triple-negative breast cancer (TNBC) is an unfavorable subtype of breast cancer, which usually requires an aggressive perioperative systemic treatment. When TNBC presents as a second primary cancer after cured acute leukemia, its management might be challenging.
Case presentation:
We present a case report of a young postmenopausal woman with an operable TNBC who had a history of the B-cell acute lymphoblastic leukemia (B-ALL) and graft versus host disease (GVHD) after allogeneic stem cell transplantation (allo-SCT). A history of previous treatment with anthracyclines and radiotherapy and GVHD limited the use of doxorubicin for treatment of her TNBC. Due to the history of GVHD, perioperative treatment with pembrolizumab was omitted. Genetic testing was challenging due to the possible contamination of her tissues with the donor's cells after allo-SCT. In samples of our patient's buccal swab, peripheral blood, and tumor tissue, a pathogenic variant in the partner and localizer of BRCA2 (PALB2) gene was found. With neoadjuvant chemotherapy which included carboplatin, a pathologic complete response was achieved. Although our patient has a low risk for recurrence of TNBC, her risk for the development of new primary cancers remains substantial.
Conclusion:
This case highlights challenges in the systemic treatment, genetic testing, and follow-up of patients with operable TNBC and other solid cancers who have a history of acute leukemia.
A Case Report of Ruptured Intracranial Dermoid Cyst
Authors: Sharif Alfeki, Abdullah Alsaedi, Osama Alsheikh, Abdullah AlSafar, Atheer Alqubaysi, Amjad Aljubairy, Feras Ageeli, Mazen Ali
Journal: Cureus (2024)
Keywords: computed tomography scan, congenital lesions, cyst rupture, dermoid cyst, meningitis, severe headache
MeSH terms: Case Reports

Intracranial dermoid cysts, rare congenital lesions originating from ectodermal elements during neural tube closure, are explored in the context of a 45-year-old female presenting with a sudden-onset severe headache, nausea, and vomiting. A thorough neurological examination revealed no focal deficits, prompting a computed tomography scan that identified multiple extra-axial intracranial fat density lesions indicative of dermoid cysts. Laboratory and cerebrospinal fluid analysis confirmed inflammatory changes, characterized by an increased white blood cell count. Successful surgical intervention followed, resulting in the complete removal of the cyst and the patient's subsequent full recovery with the resolution of symptoms. This case highlights the intricate nature of intracranial dermoid cysts and underscores the critical importance of prompt recognition in effectively mitigating potential complications.
Combined treatment with allogeneic Epstein-Barr- and human polyomavirus 1 specific T-cells in progressive multifocal leukoencephalopathy and EBV infection: a case report
Authors: Sandra Nay, Nora Möhn, Lea Grote-Levi, Agnes Bonifacius, Mieke L Saßmann, Kevin Karacondi, Sabine Tischer-Zimmermann, Henning Pöter, Nima Mahmoudi, Mike P Wattjes, Britta Maecker-Kolhoff, Günter Höglinger, Britta Eiz-Vesper, Thomas Skripuletz
Journal: Ther Adv Neurol Disord (2024)
Keywords: bkv, epstein–barr virus, jcv, allogenic t-cells, human immunodeficiency virus, progressive multifocal leukoencephalopathy
MeSH terms: Case Reports

Opportunistic viral infections in individuals with severe immunodeficiency can lead to fatal conditions such as progressive multifocal leukoencephalopathy (PML), for which treatment options are limited. These infections pose significant risks, especially when co-infections with other viruses occur. We describe a combined therapy approach using directly isolated allogeneic Human Polyomavirus 1 (also known as BKV) and Epstein-Barr virus (EBV) specific cytotoxic T-cells for the treatment of PML in conjunction with identified EBV in the cerebrospinal fluid (CSF) of a male patient infected with human immunodeficiency virus (HIV). A 53-year-old HIV-positive male, recently diagnosed with PML, presented with rapidly worsening symptoms, including ataxia, tetraparesis, dysarthria, and dysphagia, leading to respiratory failure. The patient developed PML even after commencing highly active antiretroviral therapy (HAART) 3 months prior. Brain magnetic resonance imaging (MRI) revealed multifocal demyelination lesions involving the posterior fossa and right thalamus suggestive of PML. In addition to the detection of human polyomavirus 2 (also known as JCV), analysis of CSF showed positive results for EBV deoxyribonucleic acid (DNA). His neurological condition markedly deteriorated over the following 2 months. Based on MRI, there was no evidence of Immune Reconstitution Inflammatory Syndrome contributing to this decline. The patient did not have endogenous virus-specific T-cells. We initiated an allogeneic, partially human leukocyte antigen-matched transfer of EBV and utilizing the cross-reactivity between BKV and JCV-BKV specific T-cells. This intervention led to notable neurological improvement and partial resolution of the MRI lesions within 6 weeks. Our case of a patient with acquired immune deficiency syndrome demonstrates that PML and concurrent EBV co-infection can still occur despite undergoing HAART treatment. This innovative experimental therapy, involving a combination of virus-specific T-cells, was demonstrated to be an effective treatment option in this patient.
Case Report: Diabetic ketoacidosis after co-administration of empagliflozin and probenecid
Authors: William P Martin, Niamh Reidy, Justin Low, Tomás Ahern
Journal: Wellcome Open Res (2024)
Keywords: dka, oat3, sglt2 inhibitor, sglt2i, case report, diabetic ketoacidosis, empagliflozin, organic anion transporter 3, probenecid
MeSH terms: Case Reports

Sodium-glucose cotransporter-2 (SGLT2) inhibitors are filtered and secreted to their primary site of action in the proximal tubule of the kidney. At this site, SGLT2 inhibitors also reduce renal elimination of ketone bodies, a finding implicated in their propensity to cause ketoacidosis. Many commonly used medications have potential to diminish renal elimination of SGLT2 inhibitors and to compound the effects of SGLT2 inhibitors on renal elimination of ketone bodies by inhibiting tubular secretion of the SGLT2 inhibitor itself and/or ketone bodies. We present a case of severe diabetic ketoacidosis (DKA) in a patient with type 2 diabetes occurring several days after co-prescription of empagliflozin and probenecid. Other than the recent introduction of empagliflozin, no cause for the DKA episode was apparent. A pharmacokinetic interaction between probenecid and empagliflozin, involving organic anion transporter 3 (OAT3), reduces proximal tubular secretion of empagliflozin and increases patient exposure to the drug. Whether or not this phenomenon is sufficient to cause severe DKA is discussed. An alternative explanation as to the DKA aetiology is proposed, wherein probenecid may compound effects of empagliflozin on renal elimination of ketone bodies. We suggest that clinicians exercise caution when prescribing SGLT2 inhibitors alongside pharmacologic inhibitors of, or competitors for, proximal tubular organic anion transporters in patients with diabetes mellitus due to the risk of severe DKA.
Case Report: Allograft aortic valve replacement in irreparable infant mitral valve
Authors: Yuqing Niu, Shaoxian Cheng, Nianguo Dong, Cheng Zhou
Journal: Front Cardiovasc Med (2024)
Keywords: allograft aortic valve, infants, mitral regurgitation (mr), mitral valve disease, mitral valve repair
MeSH terms: Case Reports

This case report describes a 3-month-old male infant diagnosed with severe mitral stenosis (MS) and mitral regurgitation (MR) by transthoracic echocardiography. The male infant initially underwent complex mitral valve repair surgery. However, postoperative deterioration occurred with hemodynamic instability and shock, necessitating multiple resuscitation efforts and ultimately requiring support from Extracorporeal Membrane Oxygenation (ECMO). Given the serious conditions, the cardiac team decided to perform mitral valve replacement with a fresh allograft aortic valve. Postoperatively, the patient was promptly weaned off ECMO support, and the valve demonstrated sustained functionality throughout the long-term follow-up.