OpenMed/multicare-articles huggingface dataset:
Tracheobronchopathia Osteochondroplastica: a rare case report of a non-smoker and non-atopic patient, with a long history of wheezing since childhood
Authors: Alessandro G Fois, Antonella Arcadu, Luigi Santoru, Rocco Trisolini, Vincenzo Marras, Giorgio C Ginesu, Sara Canu, Lorenzo Cordero, Gabriella Diana, Pietro Pirina
Journal: Multidiscip Respir Med (2016)
Keywords: rare diseases, respiratory sounds, tracheal disease, tracheobronchopathia osteochondroplastica
MeSH terms: Case Reports

Background:
Tracheobronchopathia Osteochondroplastica (TBPO) is an uncommon and benign condition characterized by osseous or metaplastic cartilaginous 1-3 mm nodules in the submucosa of the tracheo-bronchial tree. Posterior membranous wall of trachea is typically spared. Ecchondrosis and exostosis nodules can cause chronic inflammation and mucosal metaplasia, stiffness and airway obstruction. The prevalence of this disease, often asymptomatic or associated with nonspecific symptoms, is underestimated, and the mean age at diagnosis is 50 years.
Case presentation:
We report a case of a 49 year old male, non-smoker. He was a smith, homeless, born in Romania and reported a diagnosis of asthma since childhood. He was admitted to our Respiratory Unit presenting low-grade fever with profuse sweating, cough, purulent sputum, and ground-glass opacity with irregularity in main bronchi detected by High-Resolution Computed Tomography (HRCT) scan. Fibrobronchoscopy revealed the presence of mucosal irregularities up to the segmental bronchi entrance. Histological examination showed nodules of osseouscartilaginous nature, consistent with TBPO. Microbiological tests of Bronchoalveolar Lavage fluid also revealed an infection by Pseudomonas Aeruginosa.
Conclusion:
TBPO is a rare disease characterized by wheezing, cough, hemoptysis, and recurrent pulmonary infections, with typical onset during adulthood. In the case reported, the symptoms began in childhood, although they had been misinterpreted as asthma. Even if childhood-onset is not reported in literature, it is likely that small changes occur in the first few years of life and become more evident in adulthood. The involvement of segmental and sub-segmental bronchi, usually spared in TBPO, could explain the presence of wheezing and non-productive cough reported by our patient since childhood.
Child with temporal lobe hamartoma: A to Z images and a case report
Authors: José Liders Burgos Zuleta, Roger Carillo Mezo, Eduardo Perusquia Ortega, Beatriz Luna Barrón, Rubén Conde Espinosa, Diana P Marín Muentes, Julián Sánchez Cortázar, María de Guadalupe Gómez Pérez, José Alvaro Burgos Zuleta, José Andres Burgos Zuleta
Journal: Ecancermedicalscience (2014)
Keywords: gelastic seizure, magnetic resonance, no motivated laughter, temporal hamartoma
MeSH terms: Case Reports

Gelastic seizure was first described by Trousseau in 1877 and comes from the Greek word gelos (laughs), as laughter is the main feature [1]. Normal laughter is a reactive emotional behaviour and motor action that involves the limbic system, hypothalamus, temporal cortex, and several regions of the brainstem. A female patient, six years old, left-handed, with gelastic seizures, uncontrolled despite being treated with two antiepileptic drugs at high doses, was treated. A simple axial tomography was done, where a hypodense lesion that shapes the inner table of the skull temporal level was observed; later, magnetic resonance imaging was requested, better characterising an intraxial lesion in the right second temporal gyrus cystic appearance.
Case report: 18F-FES PET/CT predicted treatment responses of second-line and third-line CDK4/6 inhibitors after disease progression on first-line CDK4/6 inhibitor in a HR+/HER2- metastatic breast cancer patient
Authors: Bo Pan, Zhixin Hao, Ying Xu, Zhe Wang, Ru Yao, Xuefei Wang, Chao Ren, Yidong Zhou, Qiang Sun, Li Huo
Journal: Front Oncol (2022)
Keywords: cdk4/6 inhibitor, fes pet/ct, estrogen receptor (er), metastatic breast cancer, treatment response
MeSH terms: Case Reports

Background:
Cyclin-dependent kinase 4/6 inhibitor (CDK4/6i) has become the commonest first-line treatment of hormonal receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) metastatic breast cancer (MBC). However, therapy is quite individualized after progression of disease (PD) when CDK4/6i fails. Estrogen receptor (ER) status of metastatic lesions of bone, lung or liver might be different from the primary tumor and biopsy of metastatic lesions was invasive and not always available. Prediction of treatment response after PD of CDK4/6i remains unsolved. 18F-fluoroestradiol (FES) PET/CT could non-invasively reveal ER expression both in primary and metastatic breast cancer and recognize heterogeneity of ER status.
Case presentation:
A 70-year-old woman with Parkinson's disease, osteoporosis and cardiovascular co-morbidity was diagnosed with HR+/HER2- breast cancer (pT2N2M0, stage IIIa). Three years later, she developed metastases in right lung and pleura with pleural effusion and received palbociclib + letrozole. After 8 months the disease progressed, and 18F-FES PET/CT revealed multiple ER-positive pleural lesions and ER-negative pulmonary nodules after PD and the progression-free survival (PFS) of first-line CDK4/6i was 8 months. Since most of the metastatic lesions were ER-positive, abemaciclib + fulvestrant were chosen as the second-line CDK4/6i treatment and the PFS was 15 months. Another 18F-FES PET/CT showed a new ER-positive pleural mass with multiple ER-negative pulmonary nodules. Since 18F-FES PET/CT revealed that the dominant lesions were still ER-positive, dalpiciclib + exemestane + fulvestrant were prescribed as the third-line CDK4/6i treatment. Currently the patient's disease had been stable for 2 months.
Conclusion:
This case demonstrated that 18F-FES PET/CT could show ER heterogeneity non-invasively and reveal the treatment responses a predictive imaging tool of serial second- and third-line of CDK4/6i treatments when first-line CDK4/6i failed in HR+/HER2- MBC. So long as the dominant or newly-developed metastatic lesion was ER-positive on 18F-FES PET after first-line CDK4/6i, the patient might show certain therapeutic response towards endocrine-based treatment including second- and third-line of CDK4/6i, and thus increased the time to chemotherapy (TTC).
A rare presentation and recurrence of a retroperitoneal Müllerian cyst in a male patient: A case report
Authors: Antoine Naem, Ammar Dlewati, Maryam Alhimyar, Mohamad Ali Ousta, Bayan Alsaid
Journal: Int J Surg Case Rep (2019)
Keywords: case report, cystadenoma, müllerian cyst, paramesonephric cyst, retroperitoneal

Introduction:
The retroperitoneal Müllerian cysts are extremely rare lesions seen mostly in female patients but their occurrence in males is quite possible. Their exact etiology stills unknown, its histological and immunohistochemical characteristics may serve as an evidence that reflects its origin.
Case presentation:
We present a case of a resected retroperitoneal Müllerian cyst that reoccurred severely after 3 months of the first laparotomy in a male patient with a significant history of testicular teratocarcinoma. Due to the cyst's localization and its proximity to vital retroperitoneal structures, total surgical resection couldn't be made and the recurrence was minimized by post-operative oral chemotherapy.
Discussion:
The retroperitoneal Müllerian cyst is a benign cystadenoma that could be confused with other retroperitoneal lesions, which makes the pathological examination with the immunohistochemical study of the cyst's wall essential to make the diagnosis. The immunopositivity to Cytokeratin 7 and the immunonegativity to Cytokeratin 20 is a key feature that confirm the diagnosis whenever the retroperitoneal Müllerian cyst is suspected. Due to its high vascularity, we highly recommend the administration of chemotherapy which targets the proliferative cyst's cells.
Conclusion:
The RMCs are rare benign lesions that tend to reoccur if total surgical resection isn't made, when the total resection couldn't be achieved, the-unspecific anti-mitotic drugs may help in minimizing the recurrence and improve the life quality of the patient.
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
Authors: Simona Bucerzan, Diana Miclea, Cecilia Lazea, Carmen Asavoaie, Andrea Kulcsar, Paula Grigorescu-Sido
Journal: Front Pediatr (2020)
Keywords: 16q243 duplication, developmental delay, dysmorphic features, osteoporosis, short stature
MeSH terms: Case Reports

We describe the case of a seven-year-old female patient who presented in our service with severe developmental delay, intellectual disability, facial dysmorphism, and femur fracture, observed in the context of very low bone mineral density. Array-based single nucleotide polymorphism (SNP array) analysis identified a 113 kb duplication involving the morbid OMIM genes: ANKRD11 (exon1), RPL13, and PGN genes. ANKRD11 deletions are frequently described in association with KBG syndrome, the duplications being less frequent (one case described before). The exome sequencing was negative for pathogenic variants or of uncertain significance in genes possibly associated with this phenotype. The patient presented subtle signs of KBG syndrome. It is known that the phenotype of KBG syndrome has a wide clinical spectrum, this syndrome being often underdiagnosed due to overlapping features with other conditions, also characterized by multiple congenital anomalies and intellectual disability. The particularity of this case is represented by the very low bone mineral density in a patient with 16q24.3 duplication. ANKRD11 haploinsufficiency is known to be associated with skeletal involvement, such as short stature, or delayed bone age. An effect on bone density has been observed only in experimental studies on mice with induced missense mutations in the ANKRD11 gene. This CNV also involved the duplication of the very conserved RPL13 gene, which could have a role for the skeletal phenotype of this patient, knowing the high level of gene expression in bone tissue and also the association with spondyloepimetaphyseal dysplasia Isidor Toutain type, in case of splicing mutations.
Single-incision laparoscopic total extraperitoneal repair for a Grynfeltt hernia: a case report
Authors: Ching-Ting Wei, Yaw-Sen Chen, Cheuk-Kwan Sun, Kun-Chou Hsieh
Journal: J Med Case Rep (2014)

Introduction:
A superior lumbar hernia, which is also known as a Grynfeltt hernia, is a rare abdominal wall defect that can be primary or secondary to trauma or orthopedic surgery. The anatomic location of a lumbar hernia makes diagnosis and repair challenging. We successfully repaired a lumbar hernia using a single-incision laparoscopic total extraperitoneal approach. To the best of our knowledge, this is the first report of the use of this surgical technique in the treatment of a primary Grynfeltt hernia.
Case presentation:
A 76-year-old Taiwanese man presented to our hospital with a left lower bulging mass noted for over three months. Abdominal computed tomography revealed a left Grynfeltt hernia. We performed a single-incision laparoscopic total extraperitoneal repair. Our patient was discharged uneventfully on the fourth day after the operation. There was no evidence of recurrence after six months of follow-up.
Conclusion:
A laparoscopic total extraperitoneal repair for a lumbar hernia provides an excellent operative view and minimal invasiveness. The single-incision technique also provides better cosmetic outcomes. Our experience suggests that the single-incision laparoscopic total extraperitoneal approach may be a feasible and safe alterative to conventional approaches in lumbar hernia repair.
Case Report: A good response to furmonertinib second-line treatment of an advanced lung adenocarcinoma patient with a rare EGFR exon 20 N771_P772insH mutation: A case report and literature review
Authors: Xiao Zhang, Huan Han, Jiuzhou Zhao, Xiao Liu, Jianbo Zhang, Rui Sun, Shaomei Li, Baoxing Liu, Hui Zhu, Shuyue Jiao, Xiang Li, Hong Tang
Journal: Front Pharmacol (2022)
Keywords: egfr exon 20 insertion mutation, n771_p772insh, nsclc, furmonertinib, second-line
MeSH terms: Case Reports

Background: Lung adenocarcinoma with the classical EGFR 19 deletion and exon 21 L858R point mutations has exhibited good responses to epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) treatment. However, the sensitivity of uncommon EGFR exon 20 insertion mutation to third-generation EGFR-TKIs has not been determined. Although emerging targeted therapies for EGFR exon 20 insertion mutation have been reported in recent years, such patients still have a poorer prognosis than those with typical or wild-type EGFR mutations. Case summary: Here, we report the case of a 57-year-old man with advanced non-small cell lung cancer (NSCLC) with a rare EGFR exon 20 N771_P772insH mutation. The patient was treated with furmonertinib as second-line therapy. Although his pleural effusion was more than before that during treatment, various examination results showed that the pleural effusion was closely related to hypoproteinemia; thus, local progression was not considered. His cough was significantly alleviated, and the dose was well tolerated. The patient was evaluated for a remarkable progression-free survival (PFS) of 10.0 months, a duration of response (DOR) of 8.0 months, and an overall survival (OS) of 22.0 months, which had not previously been achieved. Conclusion: The present study indicated that furmonertinib might be a good treatment option for first-line progressive NSCLC patients with EGFR exon 20 insertion mutation.
Coping With Oral Tongue Cancer and COVID-19 Infection
Authors: Rita De Berardinis, Paolo Guiddi, Sara Ugolini, Francesco Chu, Giacomo Pietrobon, Gabriella Pravettoni, Fabrizio Mastrilli, Susanna Chiocca, Mohssen Ansarin, Marta Tagliabue
Journal: Front Psychiatry (2021)
Keywords: coronavirus sars-cov-2, coping, loneliness, oral tongue cancer, psychological distress, telemedicine

To date, April 19, 2021, the coronavirus disease 2019 (COVID-19) caused about 140,886,773 confirmed cases and more than 3,000,000 deaths worldwide since the beginning of the pandemic. Oncology patients are usually frail due to the fear of prognosis, recurrence, and outcomes of treatments. Thus, coping with cancer is a complicated process that is necessary to overcome oncological challenge, even more in case of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) disease. This is a brief case report on a middle-aged man affected by advanced oral tongue cancer and COVID-19, describing his experience of cancer diagnosis, surgical treatment, and rehabilitation during the hospital quarantine for COVID-19. Besides the traumatic experience due to the functional alteration in breathing, eating, and speaking caused by major surgery and the concurrent facial disfigurement, our patient had to face a COVID-19 diagnosis, which implied hospital and social isolation. The aim of this perspective work is to focus on the role of the psychological support in the management of hospital distress related to COVID-19 psychophysical loneliness or alienation. In our experience, such support should anticipate patients' oncological surgery or treatment and should be implemented through telemedicine in case of isolation or after hospital discharge.
Adrenal Ganglioneuroblastoma in Adults: A Case Report and Review of the Literature
Authors: Stefano Benedini, Giorgia Grassi, Carmen Aresta, Antonietta Tufano, Luca Fabio Carmignani, Barbara Rubino, Livio Luzi, Sabrina Corbetta
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

Incidentally discovered adrenal masses are very common given the increased number of imaging studies performed in recent years. We here report a clinical case of a 20-year-old woman who presented with left flank pain. Ultrasound examination revealed a contralateral adrenal mass, which was confirmed at computed tomography (CT) scan. Hormonal hypersecretion was excluded. Given the size (11 × 10 × 7 cm) and the uncertain nature of the mass, it was surgically removed and sent for pathological analyses. Conclusive diagnosis was ganglioneuroblastoma. Ganglioneuroblastoma is an uncommon malignant tumor, extremely rare in adults, particularly in females. This neoplasm is frequently localized in adrenal gland.
Radiofrequency coblation of congenital nasopharyngeal teratoma: a novel technique
Authors: Sang Yun Hwang, Niall Jefferson, Alok Mohorikar, Ian Jacobson
Journal: Case Rep Otolaryngol (2015)

Introduction. Congenital nasopharyngeal teratomas are rare tumours that pose difficulties in diagnosis and surgical management. We report the first use of radiofrequency coblation in the management of such tumours. Case Report. A premature baby with a perinatal diagnosis of a large, obstructing nasooropharyngeal mass was referred to the ENT service for further investigations and management. The initial biopsy was suggestive of a neuroblastoma, but the tumour demonstrated rapid growth despite appropriate chemotherapy. In a novel use of radiofrequency coblation, the nasooropharyngeal mass was completely excised, with the final histopathology revealing a congenital nasopharyngeal teratoma. Conclusion. We report the first use of radiofrequency coblation to excise a congenital nasopharyngeal teratoma and discuss its advantages.
Granulocytic Sarcoma Presenting as a Palpable Breast Lump
Authors: Victor Fernandes Vieira, Quoc Duy Vo, Jean Bouquet de la Jolinière, Fathi Khomsi, Anis Feki, Henri-Marcel Hoogewoud
Journal: Front Surg (2017)
Keywords: acute myeloid leukemia, breast cancer, chloroma, granulocytic sarcoma, myeloid sarcoma
MeSH terms: Case Reports

We report the case of a 45-year-old woman who palpated a voluminous painless lump in the superior outer quadrant of her left breast. Her past medical history revealed an acute myeloid leukemia (AML) treated and considered in remission 1 month prior to this discovery. Imaging work-up by mammogram, US, and MRI showed multiples masses suspect of malignancy in both breasts. US-guided needle biopsy was performed in the palpable mass and in one of the multiple lesions located in the right breast. Histologic findings were compatible with a granulocytic sarcoma in both breasts, which was considered as a relapse of the AML treated a few months earlier.
Concurrence of Congenital Muscular Torticollis and Congenital Torticollis Due to Other Anomalies: Two Case Reports
Authors: Min-Wook Kim, Da-Ye Kim, Dong-Woo Lee, Da-Hye Ryoo, Jaewon Kim, Dae-Hyun Jang
Journal: Front Pediatr (2021)
Keywords: congenital torticollis, fibroma, ocular motility disorders, oculomotor muscles, trochlear nerve, vertebral anomaly
MeSH terms: Case Reports

Introduction: Congenital muscular torticollis (CMT) is the most common cause of torticollis in infants; other causes, including osseous, ocular, and central nervous system torticollis can easily be overlooked. We report two rare cases of CMT with concurrent osseous or ocular torticollis. Case 1: A 1-month-old female infant with a right neck mass and right-tilting head posture was referred. Neck ultrasonography showed diffuse hypertrophy and hyperechoic findings on the right sternocleidomastoid (SCM) muscle, which was consistent with right CMT. A clavicle X-ray imaging was conducted to identify an associated fracture due to birth trauma on the same day and a suspected congenital vertebral anomaly was coincidentally found. Subsequent three-dimensional computed tomography of the cervical spine showed a T1 hemivertebra causing the right-tilting head. The patient was diagnosed with the concurrent manifestation of CMT and congenital osseous torticollis. Case 2: A 3-month-old male infant with a 20° head tilt to the right with a limited cervical range of motion was referred. Neck ultrasonography showed a fibromatosis colli in the right SCM, suggesting CMT. He proceeded to physical therapy for seven months; however, there was little clinical improvement in his head and neck posture. The patient underwent an additional ophthalmologic examination and orbital magnetic resonance imaging (MRI) at 10 months of age. The result showed congenital agenesis of the left fourth cranial nerve with hypoplasia of the superior oblique muscle causing the right-tilting of the head. Ultimately, the boy was diagnosed with a concurrent manifestation of CMT and congenital ocular torticollis. Conclusion: Unless careful examinations are conducted, congenital vertebral anomalies and congenital agenesis of the fourth cranial nerve can go unnoticed in the present two cases. If a patient with CMT displays unusual features or does not respond to physical therapy, clinicians should consider not only a differential diagnosis but also concurrence with other causes of congenital torticollis.
HRM 4.0 and New Managerial Competences Profile: The COMAU Case
Authors: Ezio Fregnan, Silvia Ivaldi, Giuseppe Scaratti
Journal: Front Psychol (2020)
Keywords: e-hrm, hrm, corporate responsibility, digital transformation, social value

The digital revolution has generated huge changes in the world of work, with relevant implications for the Human Resources Management (HRM) function. New challenges arise in facing digital work, digital employees, and digital management, such that the connection between new technologies and HRM is now described as electronic HRM (e-HRM). Challenges and connection entail the possibility to review the notion of HRM itself, examining new research perspectives and lines of interpretation following a Critical Management Studies approach, thus developing a more contextualized view in conceiving HRM, a more expansive consideration of stakeholders, and a longer-term perspective in approaching the results of digital transformation and HRM outcomes. The article analyzes a specific organizational case, involving a multinational enterprise, and explores how the case study enhances the understanding of HRM as a social practice embedded in specific situated contexts. Such a conception enables the engagement of multiple rationalities, related to both internal and external stakeholders, overcoming a "mere antiperformance stance" and achieving forms of reconstructive reflexivity concerning the interconnection between the digital age, HRM, and the innovative generation of social value through an authentic corporate responsibility.