OpenMed/multicare-articles huggingface dataset:
Subcutaneous vedolizumab interval extension in inflammatory bowel disease patients: a case series
Authors: Suzanne I Anjie, Krisztina B Gecse, Cyriel Y Ponsioen, Mark Löwenberg, Geert R D'Haens
Journal: Therap Adv Gastroenterol (2024)
Keywords: case series, interval extension, personalized medicine, vedolizumab

Subcutaneous vedolizumab has demonstrated efficacy as a maintenance therapy in inflammatory bowel disease (IBD). However, data on the extension of subcutaneous vedolizumab injection intervals are lacking. Here, we present the first real-world data on subcutaneous vedolizumab interval extension in IBD patients. Nine patients (eight Crohn's disease patients and one ulcerative colitis patient) were included in the study. At interval extension (at baseline), all patients were in clinical and biochemical remission and requested an extension of their 2-weekly injection intervals due to side effects potentially related to subcutaneous vedolizumab. Patients increased their intervals to 3, 4, or 5 weeks. During a median follow-up of 10.0 months (IQR 6.5-19.5), no flare-ups were observed. After 6 months, median biochemical parameters remained stable compared to baseline levels (fecal calprotectin 24.0 µg/g [IQR 10.0-43.0] versus 28.0 µg/g [IQR 15.0-54.0], p = 0.553; C-reactive protein 3.4 mg/L [IQR 1.4-4.2] versus 3.1 mg/L [IQR 0.7-4.9], p = 0.172), while vedolizumab serum concentrations significantly decreased (22.0 µg/mL [IQR 20.0-33.0] versus 40.0 µg/mL [IQR 28.3-45.0], p = 0.018). After interval extension, almost all suspected vedolizumab-induced side effects disappeared within 6 months. Lengthening subcutaneous vedolizumab intervals in IBD patients in clinical and biochemical remission appears to be both effective and safe, potentially leading to substantial reductions in healthcare expenses.
Simultaneous primary thyroid MALT lymphoma and papillary thyroid cancer
Authors: Jianyong Zhang, Jing Wu, Liangquan Sun, Yuan Chen, Zhaoyan Yu
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: case report, collision tumor, literature review, papillary thyroid cancer (ptc), thyroid malt lymphoma
MeSH terms: Lymphoma, B-Cell, Marginal Zone / diagnosis, Lymphoma, B-Cell, Marginal Zone / pathology, Lymphoma, B-Cell, Marginal Zone / surgery, Lymphoma, B-Cell, Marginal Zone / therapy, Thyroid Cancer, Papillary / pathology, Thyroid Cancer, Papillary / surgery, Thyroid Neoplasms / pathology, Thyroid Neoplasms / surgery, Case Reports, Female, Humans, Middle Aged, Neoplasms, Multiple Primary / pathology, Neoplasms, Multiple Primary / surgery, Thyroidectomy

The mucosa-associated lymphoid tissue (MALT) lymphoma subtype, specifically extranodal marginal zone B-cell lymphoma, is a rare variant. Within this subtype, primary thyroid MALT lymphoma is an uncommon occurrence. The literature provides limited documentation on thyroid MALT lymphomas, as their prevalence is comparatively lower than in other organ sites. The coexistence of papillary thyroid carcinoma (PTC) and thyroid MALT lymphomas is exceedingly rare. It presents a rare case of primary thyroid MALT lymphoma accompanied by PTC, thyroid lymphoma not being considered before surgery. A 64-year-old female patient, who had been experiencing symptoms related to a substantial thyroid tumor for a duration of three years, she refused to do a needle biopsy before surgery and expressed a preference for surgical resection. Consequently, the patient underwent a total thyroidectomy along with lymphadenectomy of the central compartment. A histological examination subsequently confirmed the presence of papillary thyroid carcinoma (PTC) and mucosa-associated lymphoid tissue (MALT) lymphoma. Due to the favorable response of the MALT lymphoma to local treatment and the absence of metastasis in other organs, no further treatment was administered for the MALT lymphoma following the surgery. Currently, the patient exhibits no signs of tumor recurrence based on ultrasound and laboratory evaluations. We also provide an overview of the clinical findings on PTC and MALT lymphoma patients already reported and discuss the possible treatment strategy.
Case report: Catheter ablation for persistent atrial fibrillation in a patient with heart of stone
Authors: Yingjian Deng, Guiyang Li, Jianghai Liu, Xingcai Wan, Linlin Li, Jialan Lv, Qiang Li, Faguang Zhou, Dong Chang
Journal: Front Cardiovasc Med (2023)
Keywords: arrhythmia, atrial fibrillation, case report, catheter ablation, myocardial calcification
MeSH terms: Case Reports

Myocardial calcification is a rare condition, with only a few reports in the literature. For the first time, we report a case of diffuse myocardial calcification who underwent successful catheter ablation for persistent atrial fibrillation (AF). In this case, catheter ablation was recommended due to repeated hospitalization for palpitation and heart failure, but preoperative computed tomography showed massive myocardial calcification. Electroanatomic mapping of the atrium was performed with a Pentaray catheter before ablation, which showed areas of low voltage in the calcified region. As the persistent AF was terminated after circumferential pulmonary vein isolation and posterior wall isolation, and no further ablation was performed. The patient recovered well, with no recurrence of palpitation or heart failure during the one-year follow-up.
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report
Authors: Montaha Almudhry, Asuri N Prasad, C Anthony Rupar, Keng Yeow Tay, Suzanne Ratko, Mary E Jenkins, Chitra Prasad
Journal: Front Neurol (2023)
Keywords: leigh-like phenotype, mocs1, dystonia, molybdenum cofactor deficiency, stroke
MeSH terms: Case Reports

Background:
Molybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.
Objectives:
We report a milder phenotype in a patient with MOCS1 gene mutation who presented with a Leigh-like presentation.
Case report:
We present the case of a 10-year-old boy who was symptomatic at the age of 5 months with sudden onset of dyskinesia, nystagmus, and extrapyramidal signs following a febrile illness. Initial biochemical, radiological, and histopathological findings a Leigh syndrome-like phenotype; however, whole-exome sequencing detected compound heterozygous mutations in MOCS1 gene, c.1133 G>C and c.217C>T, confirming an underlying MoCD. This was biochemically supported by low uric acid level of 80 (110-282 mmol/L) and low cystine level of 0 (3-49), and a urine S-sulfocysteine at 116 (0-15) mmol/mol creatinine. The patient was administered methionine- and cystine-free formulas. The patient has remained stable, with residual intellectual, speech, and motor sequelae.
Conclusion:
This presentation expands the phenotypic variability of late-onset MoCD A and highlights the role of secondary mitochondrial dysfunction in its pathogenesis.
Successful Use of Dupilumab in the Treatment of Acquired Perforating Dermatosis Associated with Atopic Dermatitis
Authors: Niccolò Gori, Eleonora De Luca, Andrea Chiricozzi, Stefania Sfregola, Alessandro Di Stefani, Ketty Peris
Journal: Case Rep Dermatol Med (2024)
MeSH terms: Case Reports

Acquired reactive perforating collagenosis is a rare cutaneous disorder characterised by the extrusion of abnormal connective tissue trough epidermidis and/or follicular units. Reactive perforating collagenosis is often associated with systemic diseases in which pruritus is a common symptom (e.g., diabetes and chronic kidney disease). Less commonly, it has been associated with chronic inflammatory dermatoses, including atopic dermatitis, as in this case. In this report, we describe the exceptional case of a 35-year-old man affected by acquired reactive perforating collagenosis associated with atopic dermatitis who was resistant to conventional topical and systemic treatment and experienced complete resolution of clinical signs and symptoms after 12 weeks of treatment with dupilumab. In our patient, the severe pruritus induced by atopic dermatitis likely contributed to the development of acquired perforating collagenosis lesions, which are thought to be a reactive response to chronic scratching and repetitive injury to the skin. Chronic pruritus in atopic dermatitis is known to be driven by type 2 cytokines, including IL-4 and IL-13, and dupilumab, a monoclonal antibody inhibiting IL-4 and IL-13 signalling, has been shown to be effective in the treatment of moderate to severe atopic dermatitis as well as other type 2-driven pruritic dermatological conditions. This case supports the potential use of dupilumab for the treatment of reactive perforating dermatosis.
Case report: Differential diagnosis of highly amplified anti-CD5 CAR T cells and relapsed lymphoma cells in a patient with refractory ALK positive anaplastic large cell lymphoma
Authors: Wei Mu, Meilan Zhang, Guang Hu, Yunfeng Han, Xia Mao, Caixia Chen, Kefeng Shen, Zhenyu Dai, Xiaojian Zhu, Xiaoxi Zhou, Liang Huang, Qilin Ao, Min Xiao
Journal: Front Immunol (2023)
Keywords: alk-positive anaplastic large cell lymphoma, cd5 antigen, cell therapy, chimeric antigen receptor t cells, laboratory based differential diagnosis
MeSH terms: Lymphoma, Large-Cell, Anaplastic / drug therapy, Lymphoma, Large-Cell, Anaplastic / therapy, Receptors, Chimeric Antigen / genetics, Receptors, Chimeric Antigen / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Diagnosis, Differential, Humans, Positron Emission Tomography Computed Tomography, Receptor Protein-Tyrosine Kinases / genetics, Receptors, Antigen, T-Cell / genetics, T-Lymphocytes / pathology, Receptor Protein-Tyrosine Kinases, Receptors, Antigen, T-Cell, Receptors, Chimeric Antigen

Background:
Anaplastic Large Cell Lymphoma (ALCL) is one of the most common subtypes of T-cell lymphoma. Among these, refractory and relapsed (r/r) ALK positive ALCL lacks effective therapies. The chimeric antigen receptor-modified T (CAR-T) cell therapy holds great promise as a therapeutic strategy for this disease. However, it is not known yet whether anti-CD5 CAR-T cells are sufficient for the definitive treatment of relapsed ALK+ ALCL, nor the role of accurate laboratory-based diagnoses during CAR-T treatment.
Case presentation:
The adolescent patient received autologous T cells containing sequences encoding VH domains specific to CD5. Following the infusion, there was an increase in both the copy number and proportion of CAR-T cells in peripheral blood. IL-6 and ferritin levels in the patient exhibited significant fluctuations, with increases of 13 and 70 folds respectively, compared to baseline after the treatment. Additionally, adverse effects were observed, including grade 4 rash, grade 1 headache, nausea, and neck-pain. Surprisingly, a relapsed disease phenotype was identified based on the results of PET/CT and histopathological analysis of the inguinal lymph node biopsy. After conducting a thorough diagnostic assessment, which included flow cytometry, next-generation sequencing (NGS), examination of immune-related gene rearrangements, and analysis of the immune repertoire of T-cell receptors (TCR), we conclusively determined that the hyperplastic T cells identified in the lymph node were the result of an expansion of CAR-T cells. Ultimately, the patient has attained complete remission (CR) and has sustained a disease-free survival state for 815 days as of the cutoff date on August 30, 2023.
Conclusion:
Taken together, the results demonstrate that anti-CD5 CAR-T cells can induce a clinical response in r/r ALK+ ALCL patient. Furthermore, this case underscores the importance of utilizing advanced technologies with high sensitivity and accuracy for biological detection in clinical laboratory diagnosis and prognosis in CAR-T cell treatment.
Trial registration number:

NCT04767308.
A case of an advanced renal collecting duct carcinoma in which initial therapeutic effect was achieved with pembrolizumab plus axitinib
Authors: Yuichiro Atagi, Kei Daizumoto, Shinsuke Mohri, Kai Somiya, Daisuke Seto, Shigeo Nakanishi, Yutaka Yanagihara, Iku Ninomiya, Kenjiro Okamoto, Sadamu Yamashi
Journal: IJU Case Rep (2023)
Keywords: axitinib, cabozantinib, immune checkpoint inhibitors, pembrolizumab, renal collecting duct carcinoma
MeSH terms: Case Reports

Introduction:
Renal collecting duct carcinoma is often found in advanced cancers and has a poor prognosis. Here, we present the case of symptomatic metastatic collecting duct carcinoma in which we observed an initial therapeutic effect of immune checkpoint inhibitors plus tyrosine kinase inhibitors.
Case presentation:
The patient was a 69-year-old male who was referred to our hospital for examination of a right chest tumor and related pain. Contrast-enhanced computed tomography and tumor biopsy were performed, leading to a diagnosis of collecting duct carcinoma. A combination of pembrolizumab plus axitinib was initiated as first-line therapy; right chest pain decreased, and tumor shrinkage was observed. Seven months after treatment initiation, tumor progression was noted. Cabozantinib was initiated as second-line therapy; however, was discontinued due to patient fatigue. The patient died 15 months after the initiation of treatment.
Conclusion:
For symptomatic metastatic collecting duct carcinoma, pembrolizumab plus axitinib may have initial therapeutic effects.
Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report
Authors: Shuang Tan, Hongruo Liu, Evenki Pan, Siye Liu, Jiangyan Zhang, Jie Wang, Ning Wang
Journal: Front Med (Lausanne) (2024)
Keywords: fus-creb3l2 fusion, muc4 protein, low-grade fibromyxoid sarcoma, next-generation sequencing, vulva
MeSH terms: Case Reports

Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor composed of bland spindled cells in a variably fibrous to myxoid stroma. Its occurrence in the vulva region is rare, and thus, it may not be always taken into account in the differential diagnosis. Here, we describe a 34-year-old woman presented with a right vulvar mass and underwent complete surgical excision. The final pathologic diagnosis revealed LGFMS of the vulva based on the morphological, immunophenotypic, and molecular genetic features. The patient has not experienced a local or metastatic recurrence after 9-month follow-up. Despite being rare, LGFMS of the vulva should be considered when making a diagnosis of vulvar lesions. We also report that the genetic testing by next-generation sequencing (NGS) represents a very useful tool for the differential diagnosis of LGFMS from its mimics. Moreover, we have reviewed the literature on LGFMS of the vulva and summarized the characteristics of the patients, providing assistance for the diagnosis of such patients. Most vulvovaginal LGFMS can be fully removed through surgery. However, ongoing monitoring over the long term is essential as local and/or distant spread can occur decades after the initial diagnosis.
A rare and fatal case of tubo-ovarian abscess due to Burkholderia pseudomallei presenting as puerperal sepsis
Authors: Maanasa Bhaskar M, Soundarya Rajamanikam, Sruthi Raj, Sujatha Sistla, Kubera Siddappa Nichanahalli
Journal: Access Microbiol (2023)
Keywords: melioidosis, puerperal sepsis, tubo-ovarianabscess
MeSH terms: Case Reports

Introduction:
Melioidosis is an emerging life-threatening infectious disease caused by the Gram-negative Burkholderia pseudomallei found in contaminated soil and surface ground water. It often presents with varied clinical manifestations and has a high mortality if left untreated due to lack of clinical suspicion. Here we report a rare and fatal case of tubo-ovarian abscess presenting as puerperal sepsis due to B. pseudomallei in a young woman.
Case report:
A 25-year-old female presented for medical consultation at day 43 postpartum complaining of fever on and off for the past 40 days associated with vomiting. On per speculum examination, greenish discharge from the cervix was seen and a right adnexal mass was felt which was cystic in consistency, non-tender and pushing the cervix to the left side. An exploratory laparotomy was carried out and pus was drained from below the rectus sheath, and from the right tubo-ovarian mass. Peripheral blood and the pus samples collected intraoperatively grew B. pseudomallei . The patient died on the fifth post-operative day due to septic shock with disseminated intravascular coagulation secondary to puerperal sepsis.
Conclusion:
Melioidosis is a fatal but treatable disease when it is promptly diagnosed. In countries such as India, where tuberculosis is highly endemic, underdiagnosis of melioidosis can be common. Clinicians and microbiologists should have a high index of suspicion of melioidosis especially in individuals with underlying illness.
The impact of humanitarian emergencies on adolescent boys: Findings from the Rohingya refugee crisis
Authors: Shane Harrison, Richard Dean Chenhall, Karen Block, Sabina Faiz Rashid, Cathy Vaughan
Journal: PLOS Glob Public Health (2024)

Adolescent boys (age 9-19) are impacted differently by humanitarian emergencies. However, academic research on adolescent health and child protection has tended to focus on the direct impacts of an emergency rather than indirect impacts that may arise after a crisis. We sought to identify child protection concerns affecting adolescent boys in emergency settings and boys who are more vulnerable to harm through a case study of the humanitarian response to the 2017 Rohingya refugee crisis. We collected data in the Rohingya refugee crisis in Cox's Bazar, Bangladesh between 2018-2019. This included six months of participant observation, 23 semi-structured interviews and 12 informal ethnographic interviews with humanitarian staff working in the crisis, and 10 focus group discussions with a total of 52 child protection caseworkers from four child protection organisations. Our results showed that adolescent Rohingya boys were exposed to numerous protection concerns, including child labour, drug trafficking, substance abuse, family violence, and neglect. We classified these into three main typologies: community-related violence, income-related violence, and life-stage vulnerabilities. We found that adolescent boys who were unaccompanied or separated from their caregivers, adolescent boys who were members of vulnerable households, and adolescent boys with a disability were at more risk of harm. Our findings indicate that adolescent boys are exposed to an array of impactful child protection concerns in humanitarian emergencies and that this has implications for the delivery of public health and child protection interventions. We believe that humanitarian actors should improve recognition of the complexity of adolescent boys' lives and their exposure to gender and age-based harm as a critical matter for addressing adolescent health equity.
Thoracoscopic esophagectomy for thoracic esophageal cancer with right aortic arch and Kommerell diverticulum: a case report and literature review
Authors: Zhao-Jun Yu, Ling-Wen Guo, Yang-Yun Huang, Lilan Zhao, Zi-Jie He, Xiao-Jie Pan, Wen-Shu Chen
Journal: Front Oncol (2023)
Keywords: kommerell diverticulum, esophageal cancer, right aortic arch, the left recurrent laryngeal nerve, three-dimensional ct reconstruction
MeSH terms: Case Reports

Background:
Esophageal carcinoma accompanied by a right aortic arch (RAA) is very rare. When combined with Kommerell diverticulum (KD), a right aortic arch forms a vascular ring encircling both the esophagus and trachea. Due to abnormal anatomy of the upper mediastinum, it is very difficult to dissociate the esophagus and its surrounding tissues, especially the left recurrent laryngeal nerve. Herein, we report a case of successful thoracoscopic esophagectomy in an esophageal cancer patient concurrent with a RAA and KD.
Case presentation:
A 62-year-old male patient was diagnosed with esophageal squamous carcinoma in the middle esophagus at clinical stage I (cT1N0M0) according to UICC-TNM classification 8th edition. Further examinations revealed RAA and KD. Based on the three-dimensional CT (3D-CT) reconstruction, a Mckeown esophagectomy via a left thoracoscopic approach in semi-prone position was performed. During the operation, the left recurrent laryngeal nerve was accurately exposed and well protected. Postoperatively, severe complications, including anastomotic leakage and recurrent laryngeal nerve palsy, were not observed. The patient was discharged 12 days after the surgery.
Conclusion:
Preoperative 3D-CT reconstruction is useful to clarify the vascular malformation in esophageal cancer patients with RAA, and helpful to formulate a reasonable surgical approach.
Adult Pulmonary Blastoma: A Case Report with Spectrum of Rare Manifestations
Authors: Mayur Parkhi, Nishtha Ahuja, Divyesh Kumar, Rajender Kumar Basher, Navneet Singh, Harkant Singh, Amanjit Bal
Journal: Turk Patoloji Derg (2024)
MeSH terms: Lung Neoplasms / pathology, Pulmonary Blastoma / diagnosis, Pulmonary Blastoma / pathology, Pulmonary Blastoma / surgery, Case Reports, Female, Hemoptysis, Humans, Lung / pathology, Middle Aged, N-Myc Proto-Oncogene Protein, N-Myc Proto-Oncogene Protein

Pulmonary blastoma (PB) is an exceedingly rare and aggressive malignant lung neoplasm that has distinct biphasic morphology. In this report, we document rare manifestations and molecular alterations in PB. A 59-year-old non-smoker female, presented with cough and hemoptysis for 4 months. The high-resolution computed tomography chest scan showed a 3.5x2.7 cm mass in the basal segment of the left lung. Positron emission tomography and computed tomography revealed a fluorodeoxyglucose avid lobulated mass in the superior segment of the lower lobe of the left lung. On core biopsy, the diagnosis of pleomorphic carcinoma in a background of adenocarcinoma was made. A definite diagnosis of pulmonary blastoma was established on the left lung lobectomy specimen based on morphological and immunohistochemical findings. Post-surgical biopsy from the scalp swelling showed metastatic deposits. On Next Generation Sequencing (NGS), in addition to conventional CTNNB1 gene mutation, new pathogenic MYCN and ATM gene mutations were detected. Post-chemotherapy, the patient was doing well after 10 months of close follow-up. PB exhibited rare associations in the form of non-smoker status, scalp metastasis, and MYCN and ATM gene mutations on NGS in addition to conventional CTNNB1 gene mutation. Large cohort studies are required to discover the incidence, significance and therapeutic implications of these co-existing pathogenic molecular alterations in PB.
Constrains in the articulation between profession, family, and personal life: a case study of the Portuguese police (PSP)
Authors: Ana Rocha, Paula Espírito Santo, Ana Paula Ferreira
Journal: Front Sociol (2024)
Keywords: articulation, family, personal life, police officers (psp), work

The dangers and stresses of a police officer's career cause physical and psychological distress which in turn cause considerable challenges for the integration of professional, family, and personal life. This study focuses on the conditions that influence this articulation between the personal, family, and professional lives of Portuguese Police (PSP) officers. A questionnaire survey was applied to 414 police officers from 11 divisions of COMETLIS. At the empirical level, several models were tested to assess the articulation between the professional, family, and personal lives of police officers. The results highlight the influence of having young children, elderly people or other dependents living in the family home, as well as the employee's age, on the job's interaction with professional life. At a professional level, the variables shift work, professional category, years of service and working away from home were identified by the officers as conditioning factors in the work-family-personal life balance. Sex differences in the articulation of professional, family, and personal life were also observed.