OpenMed/multicare-articles huggingface dataset:
Treatment of metastatic squamous cell carcinoma arising in sacrococcygeal pilonidal sinus: a case report series
Authors: Ainara Soria Rivas, Sonia Bea-Ardebol, Elena Vida Navas, Óscar M Muñoz-Arrones, Luis Jacobo Cabañas-Montero, Antonio Mena-Mateos, Fernando López-Campos, Sara Corral Moreno, Israel Pérez-Muñoz, Fausto González Lizan, María Sanz Pascual, Juan Jose Serrano Domingo
Journal: Front Med (Lausanne) (2023)
Keywords: anti-pd-1, case report, chemotherapy, metastatic, pilonidal sinus, squamous cell carcinoma
MeSH terms: Case Reports

Background:
Squamous cell carcinoma (SCC) arising in a sacrococcygeal pilonidal sinus is rare, with cases of metastatic disease being even rarer. Among published cases, almost none have reported on systemic treatment.
Objective:
This disease has a poorer prognosis than other forms of cutaneous SCC; therefore, our objective is to shed some light on the treatment of metastatic disease.
Methods:
We present a series of nine cases treated at a single center, four of whom received systemic treatment. Additionally, other previously reported cases of metastatic disease are included in an attempt to draw stronger conclusions.
Results:
Four patients were treated under several treatment regimens, with a median progression-free survival of only 2 months and two instances of partial response (18%). The best result was achieved with cemiplimab. Across all the cases, there was a trend toward a benefit of the use of systemic treatment (HR 0.41, 95% CI 0.15-1.12, p = 0.083; median overall survival 13 vs. 8 months).
Limitations:
Limitations include the significant lack of information on previously published cases and the extremely heterogeneous nature of the existing information.
Conclusion:
The initial systemic treatment should be an anti-PD-1, as with other SCCs. After progression on anti-PD-1, there is no strong evidence to support the recommendation of a specific treatment or sequence: options include cetuximab and/or chemotherapy (platinum, paclitaxel, 5-fluorouracyl).
A Rare Case of Small Bowel Obstruction due to Migration of a Percutaneous Biliary Stent
Authors: Luca Ghirardelli, Aldo Alberto Beneduce, Simone Gusmini
Journal: J Investig Med High Impact Case Rep (2024)
Keywords: biliary leak, biliary stent, biliary stent complication, biliary stent migration, percutaneous biliary stent, small bowel obstruction
MeSH terms: Foreign-Body Migration / complications, Foreign-Body Migration / diagnostic imaging, Foreign-Body Migration / surgery, Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Stents / adverse effects, Case Reports, Aged, Cholangiopancreatography, Endoscopic Retrograde, Humans, Intestine, Small, Laparoscopy, Male

Biliary endoprostheses are widely used in the treatment of biliary lithiasis, malignant and benign strictures, and occasionally in long-lasting biliary fistulas. They can be placed endoscopically during endoscopic retrograde cholangiopancreatography and radiologically (percutaneous) when the endoscopic route is not feasible. Complications associated with the endoscopic placement of biliary endoprostheses are well described in the literature, with migration being the most common. Intestinal obstruction is a rare complication associated with the migration of these devices. There are no reports in the literature of this complication occurring after percutaneous placement. We present a case of a patient who arrived at the emergency department with ileal obstruction secondary to the migration and concurrent embedding of a covered stent placed radiologically to treat a biliary leak after surgery. The patient underwent diagnostic laparoscopic and ileal resection, revealing a lithiasic concretion at the tip of the stent, causing the small bowel obstruction.
Non-perforated Traumatic Pneumoperitoneum in Maxillofacial Trauma: A Compelling Case Report
Authors: Divakar Goyal, Aarushi Madaan, Nitin Goyal, Mohd Altaf Mir
Journal: Cureus (2024)
Keywords: craniofacial trauma, intraabdominal gas, maxillofacial trauma, motor vehicle injury, thoracic trauma
MeSH terms: Case Reports

Pneumoperitoneum typically results from intraabdominal gas due to gastrointestinal perforation, with exploratory laparotomy serving as the standard management. While non-surgical causes are well established, instances where pneumoperitoneum lacks an identifiable cause even after laparotomy are sparsely documented. Here, we present a case involving a 22-year-old male who, following a high-velocity road traffic injury resulting in a panfacial fracture, exhibited gross subcutaneous emphysema in the neck, pneumomediastinum, and pneumoperitoneum. This report aims to contribute to the growing understanding of such cases, potentially leading to the development of a management protocol that may help avoid unnecessary laparotomies in similar scenarios.
The role of daratumumab in relapsed/refractory CD38 positive acute leukemias-case report on three cases with a literature review
Authors: Witold Prejzner, Oliwia Piekoś, Karolina Bełdzińska, Alicja Sadowska-Klasa, Ewa Zarzycka, Maria Bieniaszewska, Krzysztof Lewandowski, Jan Maciej Zaucha
Journal: Front Oncol (2023)
Keywords: cd38, acute lymphoblastic leukemia, bortezomib, daratumumab, venetoclax
MeSH terms: Case Reports

Primary refractory or relapsed T-cell acute lymphoblastic leukemia (T-ALL) and mixed phenotype myeloid/T-cell acute leukemia have dismal prognoses. New treatment approaches, preferably targeting specific leukemic aberrations to overcome resistance, are urgently needed. The bright expression of the CD38 antigen found in several cases of T-ALL led to an investigation into the role of anti-CD38 antibodies in the treatment of T-ALL. Here, we present three cases of resistant and relapsed T-ALL and myeloid/T-cell treated with daratumumab-based therapy, including venetoclax and bortezomib (Dara-Ven-Bor). All patients achieved complete remission, with minimal residual disease negativity within four weeks of treatment, allowing them to proceed to allogeneic hematopoietic cell transplantation. The toxicity of the triple schema was acceptable. Our patients and other cases reviewed here suggest that daratumumab combined with venetoclax and bortezomib may be a very effective and relatively safe salvage treatment, even in primary resistant T-ALL.
Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia
Authors: María Enriqueta Núñez-Núñez, Juan Carlos Lona-Reyes, Brenda López-Barragán, Rosa Margarita Cruz-Osorio, Bricia Melissa Gutiérrez-Zepeda, Antonio Quintero-Ramos, Denisse Stephania Becerra-Loaiza
Journal: Front Immunol (2023)
Keywords: elane gene mutation, mexican, c416c>g, c607g>c, case report, cyclic neutropenia (cyn), novel mutation, severe neutropenia
MeSH terms: Neutropenia / congenital, Case Reports, Congenital Bone Marrow Failure Syndromes / genetics, Humans, Leukocyte Elastase / genetics, Mutation, Leukocyte Elastase, Neutropenia, Severe Congenital, Autosomal Recessive 3

The most common causes of congenital neutropenia are mutations in the ELANE (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion of exon 4, which result in different clinical phenotypes of neutropenia. Here, we report two pathogenic mutations in ELANE, namely, c.607G>C (p.Gly203Arg) and a novel variant c.416C>G (p.Pro139Arg), found in two Mexican families ascertained via patients with congenital neutropenia who responded positively to the granulocyte colony-stimulating factor (G-CSF) treatment. These findings highlight the usefulness of identifying variants in patients with inborn errors of immunity for early clinical management and the need to rule out mosaicism in noncarrier parents with more than one case in the family.
Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1
Authors: Giuliana Giardino, Vittoria Lanni, Massimo Mascolo, Daniela Russo, Emilia Cirillo, Roberta Romano, Francesca Cillo, Laura Grilli, Maria Rosaria Prencipe, Adriana Iuliano, Giovanni Uccello, Carmela De Fusco, Giuseppe Menna, Giulia Scalia, Giuseppe Portella, Claudio Pignata
Journal: Front Immunol (2024)
Keywords: ebv, sh2d1a, x lymphoproliferative syndrome type 1, eye lymphohistiocytic infiltration, rituximab
MeSH terms: Epstein-Barr Virus Infections / genetics, Immunologic Deficiency Syndromes, Lymphohistiocytosis, Hemophagocytic / genetics, Lymphoma, Lymphoproliferative Disorders, Case Reports, Child, Herpesvirus 4, Human, Humans, Rituximab, Rituximab

Background and aims:
X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A, encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas.
Methods:
We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses.
Results:
The lesion was indistinguishable from lymphoma, complicating diagnosis and treatment. In addition, considering the high incidence of lymphoma in patients with XLP1, histology helped define its nature, driving therapeutic choices.
Conclusion:
We described an unusual presentation of incomplete HLH in a patient affected with XLP1: an EBV-driven infiltration of the orbits and paranasal sinuses. This led us to a challenging differential diagnosis of lymphoma-associated hemophagocytic syndrome, which can be frequently observed in patients with XLP1. Considering the extremely poor prognosis of this clinical finding, we sought for a prompt diagnosis and managed to obtain it and to immediately establish the right treatment on the basis of the pathological finding.
Rare Manifestation of COVID-19 Resulting in Coronary Artery Vasculitis
Authors: Ahmed Hassaan Qavi, Soban Ahmad, Neeraj N Shah, Rony Shammas
Journal: Case Rep Cardiol (2024)
MeSH terms: Case Reports

We present the case of a 59-year-old African American female with end-stage renal disease (ESRD) who presented to the emergency department with chest discomfort. She had a coronary angiogram six months ago that showed no occlusive epicardial coronary artery disease. She had elevated troponin I levels and new regional wall motion abnormalities on echocardiogram. Her SARS-CoV-2 returned positive. After a multidisciplinary team approach, she underwent another coronary angiogram that showed new severe multivessel ostial lesions and a left main coronary artery aneurysm. COVID-19-related coronary artery vasculitis was suspected based on her clinical presentation, angiogram findings, and negative autoimmune workup. The patient underwent successful coronary artery bypass grafting and recovered without complications.
Ductal Carcinoma Arising in a Squamous Epithelial Inclusion Cyst within an Axillary Lymph Node: A Challenging Nodal Metastasis
Authors: Kaitlyn J Nielson, Ruifeng Guo, Malvika H Solanki, Charles D Sturgis
Journal: Case Rep Pathol (2023)
MeSH terms: Case Reports

Introduction. Assessment of axillary lymph nodes in breast carcinoma is an important part of staging to guide appropriate clinical management. Lymph node inclusions of different types, including nevoid, squamous, and glandular, are rare but have been reported in multiple different anatomic locations including the axilla. These can result in diagnostic challenges and pose risks of misdiagnoses. Rarely, malignancies may arise intrinsic to otherwise incidental benign nodal inclusions. Case Presentation. We report a case of ductal carcinoma diagnosed within a squamous epithelial inclusion cyst within an axillary lymph node in a patient with pure ductal carcinoma in situ (DCIS) of the ipsilateral right breast. To our knowledge, this is the fifth report in the literature of breast carcinoma confirmed within an axillary inclusion in a patient with pure DCIS. Evaluation of the primary DCIS and lymph node inclusions, by routine and immunohistochemical stains, was performed for assessment. Discussion. The presence of lymph node inclusions can pose a challenge in assessment of benignity and malignancy, on frozen and permanent histologic sections. Pathologists should carefully evaluate lymph node inclusions to ensure that intrinsic malignancies are not missed within rare otherwise benign appearing incidental epithelial rests.
Hypokalemic Periodic Paralysis Type 2 Due to SCN4A Val1105Met Mutation: A Case Study
Authors: Nai-Qing Hu, Jun-Yun Yang, Jin-Lin Lv, Yuan-Zhao Zhu, Li-Hua Li
Journal: Cureus (2024)
Keywords: genetic testing, hypokalemic periodic paralysis type 2, muscle weakness, potassium supplementation, scn4a gene
MeSH terms: Case Reports

Hypokalemic Periodic Paralysis Type 2 (HOKPP2) is a rare autosomal dominant disorder characterized by recurrent episodes of muscle weakness, paralysis, and hypokalemia. In this case report, we present the clinical details of a 49-year-old female diagnosed with HOKPP2. Genetic testing revealed a heterozygous mutation in the Sodium Voltage-Gated Channel Alpha Subunit 4 (SCN4A) gene, confirming the diagnosis of HOKPP2. Management strategies, including potassium supplementation and lifestyle modifications, were implemented, resulting in a significant decrease in the frequency of symptomatic episodes. This case highlights the importance of considering HOKPP2 in patients with recurrent muscle weakness, particularly those with a familial history of similar symptoms. Furthermore, it underscores the crucial role of genetic testing in guiding patient management and facilitating genetic counseling.
Unveiling Neurobrucellosis: A Case Report Emphasizing Early Diagnosis for Better Outcomes
Authors: Sivakumar Haripriya, Shikhir Malhotra, Ravisekhar Gadepalli, Vibhor Tak, Bharat Kumar
Journal: Access Microbiol (2024)
Keywords: brucella melitensis, brucella serology, neurobrucellosis, zoonosis
MeSH terms: Case Reports

Introduction:
Brucellosis is a pervasive zoonotic disease causing considerable human morbidity worldwide. This report focuses on a case of neurobrucellosis in a rural Indian patient, emphasizing the need for timely microbiological confirmation given its nonspecific clinical presentation.
Case presentation:
A 55-year-old rural Indian farmer presented with a 3 week history of insidious, low-grade fever, myalgia, and arthralgia. He developed acute right-sided weakness and neurological symptoms, including disorientation and neck rigidity. Laboratory tests indicated abnormal blood counts, elevated inflammatory markers, and liver dysfunction. Cerebrospinal fluid analysis showed pleocytosis with lymphomononuclear cells and elevated protein levels. Blood cultures eventually grew Gram-negative coccobacilli. Serological tests confirmed neurobrucellosis. Prompt antibiotic therapy led to clinical and laboratory improvement.
Conclusion:
This case underscores the importance of recognizing neurobrucellosis, particularly in endemic areas, given its nonspecific clinical presentation. Early microbiological diagnosis, supported by positive blood cultures and serological tests, was crucial. The patient's rapid response to appropriate antibiotics emphasizes the significance of timely recognition and management.
Successful use of remimazolam combined with remifentanil for painless gastroscopy in a patient with morbid obesity: a case report
Authors: Hai-Shan Feng, Meng-Ran Xie, Yu Meng, Huan-Shuang Pei, Jia-Jia Yu
Journal: Front Oncol (2024)
Keywords: gastroscopic treatment, mainless, morbid obesity, remifentanil, remimazolam
MeSH terms: Case Reports

Backgroud:
In recent years, as the number of people with obesity has surged, the number of morbidly obese patients has also grown. The pathophysiological changes in morbid obesity can lead to combined lung diseases, which may result in hypoventilation, hypoxemia, acute upper airway obstruction, acute respiratory distress syndrome, and sleep apnea syndrome, posing serious challenges to anesthesia management. Here, we describe a case of the administration of remimazolam combined with remifentanil in a patient with morbid obesity undergoing gastroscopy. This has rarely been reported in clinical practice, and we present our management experience here with the aim of providing a reference for clinical work.
Case presentation:
We report the case of a 32-year-old male hypertensive patient with a height of 180 cm, weight of 145 kg, and body mass index of 44.8 kg/m2. The patient's main complaint was intermittent hunger pain for more than 1 year, and duodenal polyps were found. Considering the patient's morbid obesity and the combination of sleep apnea syndrome and hypertension, we administered remimazolam along with remifentanil to ensure perioperative safety.
Conclusion:
The procedure lasted 30 min, and the anesthesia was satisfactory with no complications. Remimazolam combined with remifentanil intravenous anesthesia is safe for short gastroscopy in patients with morbidly obesity. The administration of a small dose of split-titration delivery facilitates the maintenance of stable vital signs.
Sclerosing Encapsulating Peritonitis: Solving the Diagnosis Challenge of a Rare Entity
Authors: Anwar Rahali, El Mehdi Aboulfath, Noureddine Njoumi, Mohammed Rebbani, Yasser El Brahmi, Mohammed Elfahssi, Abderrahman Elhjouji, Aziz Zentar, Abdelmounaim Ait Ali
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Sclerosing encapsulating peritonitis (SEP) is an unusual fibroinflammatory disease of the peritoneum marked by the development of a fibrous membrane enveloping generally the small intestines. The knowledge around this subject is not completely understood. And the etiology can be either idiopathic or secondary to several diseases, treatments, and/or medications. We present a case of a 52-year-old man suffering from atypical clinical symptoms including recurrent abdominal ascites and intestinal obstruction. An abdominal computed tomography showed findings typical of SEP. Therefore, the patient benefited from exploratory laparotomy, which confirmed the diagnosis of idiopathic SEP. Postoperatively, he again had an episode of bowel obstruction, but this was controlled with steroids. Diagnosis of SEP is a real challenge to surgeons, gastroenterologists, and radiologists. And imagery is very helpful to make the diagnosis. Consequently, it is imperative that all hospital practitioners should distinguish between this lesion and other etiology of acute peritonitis.
Goal-directed therapy in cardiovascular surgery: A case series study
Authors: Nader Givtaj, Elnaz Hosseinzadeh, Fatemeh Shima Hadipourzadeh, Zahra Faritous, Mohammad Hasan Askari, Maryam Ghanbari Garekani
Journal: J Cardiovasc Thorac Res (2023)
Keywords: advanced hemodynamic monitoring, cardiovascular surgery, goal directed therapy
MeSH terms: Case Reports

Hemodynamic and intravascular volume monitoring has been utilized and significantly improved thanks to the technology revolution. Goal-Directed Therapy (GDT) derived from this advanced monitoring is beneficial for complex surgeries, and it shifted the medical approaches from static therapy to more personalized functional treatments. Conventional monitoring methods such as blood pressure, heart rate, urinary output, and central venous pressure are commonly used. However, studies have shown these routine parameters often cannot precisely estimate the quality of tissue perfusion. Tissue hypoperfusion and hypoxia play a crucial role in initiating a systemic inflammatory response after prolonged surgeries, resulting in unstable hemodynamic condition of the patients. Several studies reported the importance of GDT in non-cardiac surgeries and there are few reports on cardiac surgeries. However, tissue perfusion and fluid management are more critical in complex and prolonged cardiovascular surgeries to avoid complications such as low cardiac output syndrome and renal or pulmonary dysfunction. Different advanced hemodynamic monitorings have been utilized perioperatively in cardiac surgery to help decision-making on inotrope and fluid management. In this article we present 5 cases of usefulness hemodynamic monitoring in patients who underwent cardiovascular surgeries.
Case report: Time response of plasma clozapine concentrations on cessation of heavy smoking
Authors: Lingyan Qi, Botao Ma, Hongzhen Fan, Siyuan Qi, Fude Yang, Huimei An
Journal: Front Pharmacol (2024)
Keywords: clozapine, plasma concentrations, schizophrenia, smoking cessation, therapeutic drug monitoring
MeSH terms: Case Reports

Smoking cessation in patients treated with clozapine might lead to elevated plasma concentrations and severe side effects. This case report investigated the trajectory of clozapine plasma concentrations over time after smoking cessation in a Chinese inpatient with schizophrenia. This case report delineates the temporal response of plasma clozapine concentrations and dose-corrected clozapine plasma concentrations in a 33-year-old inpatient with schizophrenia who had a substantial smoking history and ceased smoking abruptly during dose titration. This case report presents a sudden increase in plasma clozapine concentrations and dose-corrected plasma clozapine concentrations after smoking cessation, followed by a rapid decline in dose-corrected plasma clozapine concentrations during the initial 2 weeks and a return to pre-cessation levels approximately 1 month later. The findings suggest that clinicians and pharmacists should adjust clozapine dosage in accordance with changes in smoking status, taking into consideration the temporal effects. Post-smoking cessation adjustments to clozapine dosage should be coupled with therapeutic drug monitoring, especially for patients with heavy smoking habits. Moreover, the advice of the clinical pharmacist should be considered in complex cases to ensure safe use of clozapine.