OpenMed/multicare-articles huggingface dataset:
Chemotherapy combined with endocrine neoadjuvant therapy for hormone receptor-positive local advanced breast cancer: a case report and literature review
Authors: Nengying Zhang, Chengmin Luo, Jiayang Li, Yuxiang Bao, Zhongliang Yan, Xiaoming Cheng, Taolang Li, Junyuan Lv
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: breast cancer, capecitabine, chemotherapy, endocrine therapy, fulvestrant
MeSH terms: Breast Neoplasms / pathology, Review, Case Reports, Capecitabine / therapeutic use, Female, Fulvestrant / therapeutic use, Humans, Middle Aged, Neoadjuvant Therapy / methods, Treatment Outcome, Capecitabine, Fulvestrant

Background:
Early studies have revealed antagonistic effects associated with stacking chemotherapy (CT) and endocrine therapy (ET), thereby conventional wisdom does not advocate the simultaneous combination of these two treatment modalities. Limited clinical studies exist on the combined use of neoadjuvant CT (NACT) and neoadjuvant ET (NET), and there are no reported instances of concurrent neoadjuvant treatment for locally advanced breast cancer (LABC) using capecitabine and fulvestrant (FUL).
Case presentation:
We reported a 54-year-old woman who was diagnosed with hormone receptor-positive (HR+) LABC at our hospital. After neoadjuvant treatment involving two distinct CT regimens did not lead to tumor regression. Consequently, the patient was transitioned to concurrent capecitabine and FUL therapy. This change resulted in favorable pathological remission without any significant adverse events during treatment.
Conclusions:
A novel approach involving concurrent neoadjuvant therapy with CT and endocrine therapy may offer a potentially effective treatment avenue for some cases with HR+ LABC.
Sudden death associated with delayed cardiac rupture: case report and literature review
Authors: Lopsong Tinzin, Xuefei Gao, Hui Li, Shuquan Zhao
Journal: Front Cardiovasc Med (2024)
Keywords: autopsy, cardiac tamponade, case report, delayed cardiac rupture, pathology
MeSH terms: Case Reports

Cardiac injury plays a critical role in the process of thoracic trauma-related fatal outcomes. Historically, most patients who suffer a cardiac rupture typically die at the scene of occurrence or in the hospital, despite prompt medical intervention. Delayed cardiac rupture, although rare, may occur days after the initial injury and cause sudden unexpected death. Herein, we present the clinical details of a young man who suffered a chest stab injury and recovered well initially, but died days later due to delayed cardiac rupture. The forensic autopsy confirmed delayed cardiac rupture as the cause of death. We also reviewed previous similar reports to provide suggestions in such rare cases in clinical and forensic practice.
Memory deficit following resection of an intraventricular myxoid glioneuronal tumor impinging on the bilateral fornix: A case report
Authors: Alena Stasenko, Erik Kaestner, Jonathan Rodriguez, Jiwandeep S Kohli, Nikdokht Farid, Vanessa Goodwill, Marc S Schwartz, Jessica D Schulte, Carrie R McDonald
Journal: Front Oncol (2023)
Keywords: fornix, intraventricular, memory, myxoid glioneuronal tumor, neurosurgery, resection
MeSH terms: Case Reports

Background:
Recently recognized as a distinct entity, a myxoid glioneuronal tumor (MGNT) is a rare, low-grade central nervous system tumor. MGNTs are commonly located at the septum pellucidum or in the third ventricle, increasing the likelihood of tumor or treatment-related damage to adjacent structures critical for memory, such as the fornix. Though there have been a handful of case reports of neurosurgical and oncological outcomes of MGNTs, memory outcomes following resection of MGNTs adjacent to the fornix have not been previously reported.
Methods:
We present a case of a high functioning female for whom an MRI revealed an incidental finding of an intraventricular tumor adjacent to the fornix bilaterally. The patient underwent resection of the tumor followed by MRI surveillance without additional oncologic intervention. Due to reported cognitive problems, the patient was referred for serial neuropsychological evaluations.
Results:
Post-operative MRI following resection revealed cytotoxic edema followed by selective, progressive atrophy of the bilateral anterior fornices. Post-surgically, the patient developed an isolated verbal memory impairment, which persisted one-year post resection with minimal improvement. The memory impairment impacted the patient's everyday functioning, including the ability to work in a cognitively demanding job.
Conclusion:
This unique case demonstrates the critical role of the bilateral fornix in verbal memory and underscores the importance of a careful risk/benefit analysis when considering neurosurgical intervention to MGNTs and other intracranial lesions adjacent to this structure during neurosurgical planning.
Efficacy of SGLT2 inhibitors in IgA nephropathy associated with alcoholic liver cirrhosis accompanied by nephrotic syndrome: a case report
Authors: Yusuke Yoshimura, Daisuke Ikuma, Hiroki Mizuno, Kei Kono, Keiichi Kinowaki, Hisashi Sugimoto, Hisashi Kamido, Yuichiro Sawada, Masato Mizuta, Shigekazu Kurihara, Yuki Oba, Masayuki Yamanouchi, Tatsuya Suwabe, Kenichi Ohashi, Yoshifumi Ubara, Naoki Sawa
Journal: Front Nephrol (2024)
Keywords: iga nephropathy, sglt2 inhibitor, alcoholic liver cirrhosis, kidney biopsy, nephrotic syndrome
MeSH terms: Case Reports

We present a 51-year-old male patient with a history of Child-Pugh Grade B alcoholic liver cirrhosis (ALC) who developed renal impairment (serum creatinine of 2.00 mg/dL) and nephrotic syndrome (a urinary protein level of 4.35 g/gCr). The patient was diagnosed with immunoglobulin A nephropathy (IgAN) associated with ALC based on findings from comprehensive evaluations, including markedly elevated serum IgA levels (883.7 mg/dL), a kidney biopsy revealing significant IgA deposition in the para-mesangial area, and a liver diagnosis showing long-standing advanced ALC. Our treatment approach involved initiating dapagliflozin therapy, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, alongside strict alcohol abstinence. Remarkably, the patient demonstrated a dramatic reduction in proteinuria within one week of dapagliflozin administration. No hypoglycemic events were observed. This case adds valuable clinical insights into the potential therapeutic role of SGLT2 inhibitors in IgAN associated with ALC. Specifically, in cases where conventional steroid therapies may be contraindicated due to coexisting comorbidities such as diabetes or obesity, dapagliflozin emerges as a potentially efficacious alternative. Further investigations are warranted to validate these preliminary observations.
Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality
Authors: Jichao Zhou, Yuchen Wang, Yinghong Zhang, Debo You, Yi Wang
Journal: Front Genet (2023)
Keywords: adult syndrome, tp63 gene, congenital nasolacrimal duct obstruction, dacryocystorhinostomy, ectodermal dysplasia
MeSH terms: Case Reports

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare autosomal dominant inherited disease caused due to mutations in the TP63 gene. More commonly, mutations in the TP63 gene result in ectodermal dysplasia and/or orofacial cleft. ADULT syndrome is a type of ectoderm-related tissue dysplasia. This case report describes a patient with chronic tearing, congenital atresia, and obstruction of the lacrimal ducts, which are the main clinical manifestations of ADULT syndrome. This patient also presented with some clinical manifestations that were different from those of ADULT syndrome, namely, mild eyelid fusion and abnormal development of the fifth finger (a stiff fifth finger with camptodactyly that was shortened in length). The gene mutation in this patient was also at a site different from those usually reported in the literature. In this patient, c.518G > T resulted in p. G173V (accession number: NM_003722; exon4). We performed successful dacryocystorhinostomy and artificial lacrimal duct implantation. As shown above, we discussed the clinical characteristics and genetics of the disease in detail. In sharing this case, we aim to contribute to the current understanding of the genes and clinical manifestations of ADULT syndrome and to assist clinicians in the clinical diagnosis of TP63 mutation-related diseases.
Use of Tocilizumab Followed by Rituximab Desensitization on Relapsing Myelin Oligodendrocyte Antibody Disease: A Case Report
Authors: Kelsey C Dayrit, Evelyn O Chua-Ley
Journal: Cureus (2024)
Keywords: demyelinating dieases, mog associated antibody disease (mogad), rituximab, rituximab desensitization, tocilizumab
MeSH terms: Case Reports

Myelin oligodendrocyte antibody disease is a demyelinating disorder that usually presents with a monophasic course. Relapse in this demyelinating disorder is rare, and those who relapse have a weaker response to standard therapy. In this case report, we report a three-year follow-up on a case of a female patient who was diagnosed with myelin oligodendrocyte antibody disease at 21 years old. The patient initially presented with transverse myelitis followed by optic neuritis five months after the onset of transverse myelitis. On relapse, the patient was initially treated with rituximab only to present with type 1 hypersensitivity reaction. Due to the hypersensitivity reaction, the treatment regimen was shifted to tocilizumab, for which she completed a total of five cycles. With tocilizumab treatment, she was noted to have one relapse of symptoms triggered by COVID-19 infection. However, due to tocilizumab-associated alopecia, the patient was shifted to rituximab infusion with desensitization. She then underwent four cycles of rituximab with desensitization, which she tolerated well, and is now in full remission after the fourth cycle of rituximab with no residual deficits. As relapse in myelin oligodendrocyte antibody disease is rare, studies regarding the use of tocilizumab and rituximab as second-line treatment for this disorder are limited. Literature regarding treatment with rituximab infusion with desensitization is even more limited. This case report highlights the potential use of tocilizumab and rituximab in relapsing cases of myelin oligodendrocyte antibody disease, as well as the need for additional literature regarding the use of tocilizumab and rituximab with or without desensitization in relapse in myelin oligodendrocyte antibody disease.
Candida palmioleophila candidemia and bacterial co-infection in a 3-month-old infant with biliary atresia
Authors: Shima Aboutalebian, Bahram Nikmanesh, Masoud Mohammadpour, Arezoo Charsizadeh, Hossein Mirhendi
Journal: Front Cell Infect Microbiol (2023)
Keywords: candida palmioleophila, antifungal susceptibility testing, biliary atresia, candidemia, pediatrics
MeSH terms: Bacterial Infections / drug therapy, Biliary Atresia / drug therapy, Candidemia / diagnosis, Candidemia / drug therapy, Coinfection / drug therapy, Case Reports, Review, Research Support, Non-U.S. Gov't, Antifungal Agents / pharmacology, Antifungal Agents / therapeutic use, Candida / genetics, Fluconazole, Humans, Infant, Male, Microbial Sensitivity Tests, Saccharomyces cerevisiae, Antifungal Agents, Fluconazole

Candidemia caused by rare and uncommon Candida species is becoming more prevalent in pediatric healthcare settings, resulting in significant morbidity and mortality. One such species, Candida palmioleophila, is resistant to fluconazole but highly susceptible to echinocandins. Here, we report the first documented case of C. palmioleophila candidemia in Iran that occurred in a male infant with biliary atresia who had been hospitalized for 2 months. The patient's blood and urine cultures were positive for both yeast and bacterial species. Through DNA sequence analysis, the yeast isolate was identified as C. palmioleophila. In vitro antifungal susceptibility testing of the isolate against amphotericin B, fluconazole, itraconazole, voriconazole, isavuconazole, posaconazole, and nystatin revealed MIC values of 2, 16, 0.25, 0.0625, 0.125, 0.25, and 4 μg/mL, respectively, and minimum effective concentration for caspofungin was 0.031 μg/mL. Despite receiving antibacterial and antifungal therapies, the patient unfortunately expired due to bradycardia and hypoxemia. Proper identification and epidemiological surveillance studies are needed to understand the exact prevalence of these emerging yeast pathogens. Previously reported cases of C. palmioleophila infection, primarily associated with bloodstream infections and catheter-related candidemia, were reviewed.
A Rare Case of Uterine Blastomycosis and Its Management: A Case Report and Literature Review
Authors: Akbar Hussain, Fares Khater, Ali Raza, Huzefa Bhopalwala, Jonathan Piercy
Journal: Cureus (2024)
Keywords: antifungal treatment, extrapulmonary complications, immunocompromised hosts, pulmonary infection, rare systemic infection, uterine blastomycosis
MeSH terms: Case Reports

The report delineates the rare occurrence of uterine blastomycosis, an atypical systemic presentation of Blastomyces dermatitidis infection prevalent in North America. Focused on a 51-year-old immunocompetent female displaying abdominal pain and irregular vaginal bleeding, it underscores the intricate diagnostic hurdles posed by symptoms mirroring common gynecological conditions. Despite fewer than 10 recorded cases, the rarity of uterine involvement highlights the imperative for heightened clinical suspicion. The multifaceted diagnostic strategy integrates risk factors, travel history, imaging, and histopathological examinations. Emphasizing a multidisciplinary treatment helmed by gynecologists, pathologists, and infectious disease specialists, the utilization of antifungal agents, notably itraconazole, is pivotal. Addressing the scarcity of literature and the condition's clinical resemblance to prevalent ailments, further research becomes paramount in devising tailored diagnostic and treatment protocols for uterine blastomycosis. This study enriches the existing literature by providing critical insights into a scarcely documented condition, contributing novel perspectives essential for clinical understanding and management strategies.
ACTH-Producing Neuroendocrine Carcinoma of the Liver with Cushing's Syndrome
Authors: Mudassar Sandozi, Saagar Pamulapati, Aniqa Zaidi, Zuzanna Stuart, Sneha Pamulapati, Ajay Doniparthi
Journal: Case Rep Oncol Med (2023)
MeSH terms: Case Reports

Paraneoplastic Cushing's syndrome arises when neuroendocrine tumors cause excess glucocorticoid production. We report a case of ectopic ACTH-producing liver neuroendocrine tumor. A 71 y.o. female with a history of rectal squamous carcinoma presented with fatigue and diffuse swelling. Liver biopsy revealed metastatic neuroendocrine carcinoma. Workup revealed markedly elevated morning cortisol and ACTH. Overnight dexamethasone suppression testing and positive immunostaining for ACTH on biopsy suggested paraneoplastic Cushing's syndrome secondary to neuroendocrine hepatic tumors with bony metastasis. This explained the patient's persistent anasarca, hyperglycemia, and electrolyte abnormalities. Despite multiple interventions, the patient's clinical status declined, and she expired.
Elranatamab treatment in a multiple myeloma patient undergoing renal dialysis
Authors: Zoé Van de Wyngaert, Irene Romera-Martinez, Céline Chedeville, Paolo Musiu, Souhila Ikhlef, Bénédicte Jonca, Mohamad Mohty, Florent Malard
Journal: Clin Hematol Int (2024)
Keywords: bcma, bispecifics, dialysis, elranatamab, multiple myeloma
MeSH terms: Case Reports

We present the case of a dialyzed patient with relapsed IgA and lambda free light chain multiple myeloma treated with elranatamab. Despite end-stage renal impairment, the treatment with anti-B cell maturation antigen (BCMA)xCD3 bispecific antibody proved to be feasible, without unexpected side effects. Increased attention to infectious risk is crucial for these doubly fragile patients.
Gingival Recession in Primary Maxillary Incisors due to Fingernail Scratching: A Rare Case Report
Authors: Dalal Maalem, Jalila Hammouti, Hind Ramdi
Journal: Case Rep Dent (2024)
Keywords: case report, fingernail-scratching habits, gingival injuries, gingival recession, self-inflicted
MeSH terms: Case Reports

Introduction: Self-inflicted gingival injuries typically occur in patients with psychological disorders and rarely in normal individuals. This article is aimed at reporting an unusual case of gingival recession caused by a fingernail-scratching habit. Case Report: A 5-year-old female patient presented to the Pediatric Dentistry Department at the Ibn Sina Center for Consultation and Dental Treatment in Rabat, Morocco, with complaints of gingival recession localized in her four maxillary primary incisors. After a detailed medical and personal history and clinical examination, the diagnosis of self-inflicted gingival injury was established. The treatment plan included oral hygiene instructions, the application of analgesic and antiseptic gel, and behavioral management. Regular follow-ups over a period of 16 months were crucial for monitoring the patient's progress, which eventually led to the cessation of the habit with no recurrence. Discussion: Self-inflicted oral injuries in pediatric patients pose diagnostic challenges. The development of such habits in psychologically normal children is difficult to explain, suggesting the need for a comprehensive approach. Managing self-inflicted injuries is complex and requires a personalized strategy that may include psychotherapy, family support, and regular monitoring. Conclusion: This case highlights the importance of taking a comprehensive history and adopting a multidisciplinary approach to diagnose and manage self-inflicted gingival injury, achieving positive outcomes.
Neurophysiotherapy in Grade II Diffuse Astrocytoma: A Case Report
Authors: Simran F Sheikh, Aditi Akhuj, Raghumahanti Raghuveer, Akshaya Saklecha
Journal: Cureus (2024)
Keywords: craniotomy, diffuse astrocytoma, grade 2 glioma, physiotherapy, tumour
MeSH terms: Case Reports

Diffuse astrocytoma is a slow, progressive, and invasive tumor that develops from astrocytes and there is no discernible boundary between tumor and brain cells. We present a case of a 48-year-old woman with diffuse astrocytoma who experienced sudden left-sided weakness, multiple convulsive episodes, and vomiting. The patient underwent surgery for a left occipital mini craniotomy with complete tumor removal through a titanium burr hole. Postoperatively, the patient complained of bilateral upper and lower extremities weakness, and decreased muscular tone was found; hence, she was referred to undergo neurophysiotherapy. A four-week rehabilitative protocol was started. Physiotherapy is critical in these patients for ensuring early and rapid recovery and treating the condition's clinical manifestations. The outcome measures employed were the tone grading scale, the Brunnstrom recovery stage, and the Functional Independence Measure (FIM). This case study concludes that physiotherapy rehabilitation for an operated case of grade 2 diffuse astrocytoma led to improved lower limb strength, normal tone, and improved functional independence, which helped the patient achieve better functional activities and a greater quality of life.
Case Report: Profound newborn leukopenia related to a novel RAC2 variant
Authors: Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J Kim-Chang, Paul L Martin, Amy P Stallings, John W Sleasman, Steven M Holland, Amy P Hsu, Thomas L Leto, Talal Mousallem
Journal: Front Pediatr (2024)
Keywords: rac2, inborn error of immunity, novel variant, reticular dysgenesis, severe combined immunodeficiency
MeSH terms: Case Reports

We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screens. Initial blood counts and lymphocyte flow cytometry revealed profound neutropenia and lymphopenia with a T-/B-/NK- phenotype. Red blood cell adenosine deaminase 1 activity was within normal limits. A presumptive diagnosis of reticular dysgenesis was considered. Granulocyte colony-stimulating factor was started, but there was no improvement in neutrophil counts. Subsequent lymphocyte flow cytometry at around 4 weeks of age demonstrated an increase in T-, B- and NK-cell numbers, eliminating suspicion for SCID and raising concern for congenital neutropenia and bone marrow failure syndromes. Genetic testing revealed a novel variant in RAC2 [c.181C>A (p.Gln61Lys)] (Q61K). RAC2, a Ras-related GTPase, is the dominant RAC protein expressed in hematopoietic cells and is involved with various downstream immune-mediated responses. Pathogenic RAC2 variants show significant phenotypic heterogeneity (spanning from neutrophil defects to combined immunodeficiency) across dominant, constitutively activating, dominant activating, dominant negative, and autosomal recessive subtypes. Given the identification of a novel variant, functional testing was pursued to evaluate aberrant pathways described in other RAC2 pathogenic variants. In comparison to wild-type RAC2, the Q61K variant supported elevated superoxide production under both basal and PMA-stimulated conditions, increased PAK1 binding, and enhanced plasma membrane ruffling, consistent with other dominant, constitutively active mutations. This case highlights the diagnostic challenge associated with genetic variants identified via next-generation sequencing panels and the importance of functional assays to confirm variant pathogenicity.
Case report: Rapid development of acute symptomatic portal vein system thrombosis after endoscopic variceal therapy in a patient with liver cirrhosis
Authors: Ran Wang, Xiaozhong Guo, Fangbo Gao, Yongguo Zhang, Qianqian Li, Siqi Jia, Xiaodong Shao, Xingshun Qi
Journal: Front Med (Lausanne) (2024)
Keywords: anticoagulation therapy, endoscopic variceal treatment, liver cirrhosis, portal vein system thrombosis, superior mesenteric vein thrombosis
MeSH terms: Case Reports

Acute portal vein thrombosis (PVST), a serious complication of liver cirrhosis, is characterized as abdominal pain secondary to intestinal ischemia, and even intestinal necrosis. Anticoagulation is recommended for the treatment of acute PVST, but is often postponed in cirrhotic patients with acute variceal bleeding or those at a high risk of variceal bleeding. Herein, we reported a 63-year-old male with a 14-year history of alcoholic liver cirrhosis who developed progressive abdominal pain related to acute portal vein and superior mesenteric vein thrombosis immediately after endoscopic variceal ligation combined with endoscopic cyanoacrylate glue injection for acute variceal bleeding. Fortunately, acute PVST was successfully recanalized by the use of low molecular weight heparin. Collectively, this case suggests that acute symptomatic PVST can be secondary to endoscopic variceal therapy in liver cirrhosis, and can be safely and successfully treated by anticoagulation.