OpenMed/multicare-articles huggingface dataset:
Pembrolizumab combined with anlotinib improves therapeutic efficacy in pulmonary sarcomatoid carcinoma with TMB-H and PD-L1 expression: a case report and literature review
Authors: Shugui Wu, Shanlian Wu, Xiaohong Liao, Chaoming Zhou, Feng Qiu, Chen Wang, Wenjuan Zhong
Journal: Front Immunol (2023)
Keywords: anlotinib, case report, pembrolizumab, pulmonary sarcomatoid carcinoma, tumor mutation burden
MeSH terms: Antineoplastic Agents, Immunological / adverse effects, Carcinoma / drug therapy, Carcinoma, Non-Small-Cell Lung / pathology, Lung Neoplasms / pathology, Review, Case Reports, Research Support, Non-U.S. Gov't, Aged, B7-H1 Antigen, Biomarkers, Tumor / genetics, Female, Humans, Neoplasm Recurrence, Local / drug therapy, Quality of Life, pembrolizumab, anlotinib, B7-H1 Antigen, Antineoplastic Agents, Immunological, Biomarkers, Tumor

Background:
Pulmonary sarcomatoid carcinoma (PSC) is a unique subtype of non-small cell lung cancer (NSCLC) with a high degree of malignancy and poor therapeutic effects. With the widespread use of immune checkpoint inhibitors (ICIs) in recent years, few studies have reported that immunotherapy is effective against PSC. As a multi-target anti-vascular targeting agent, anlotinib showed a better anti-tumor effect in various cancer species. The paper reported the therapeutic and side effects of pembrolizumab combined with anlotinib in a patient with advanced PSC.
Case presentation:
This is a 73 year old female patient who underwent thoracoscopy right upper lobectomy and was diagnosed as locally advanced PSC. However, the patient experienced tumor recurrence and metastasis 7 weeks after surgery and was unable to tolerate chemoradiotherapy. Moreover, she detected TP53 mutation and found that tumor mutation burden (TMB) and PD-L1 were high expression. Therefore, the patient received pembrolizumab combined with anlotinib treatment. After 15 cycles of treatment, the tumor significantly shrank with no tumor activity. The evaluation of tumor efficacy is partial response (PR). During the treatment period, she experienced one-degree thyroid-stimulating hormone elevation and two-degree hand-foot syndrome. Pembrolizumab and anlotinib was continued for two years as a maintenance treatment. The patient had a good quality of life and no disease progression was observed. Currently, the patient is still alive without tumor progression and has overall survival exceeding 45 months and toxic side effects were tolerable.
Conclusions:
Combining ICIs and anti-angiogenic targeted therapy has brought new hope in treating advanced PSC. Additionally, TMB and PD-L1 expression could be potential predictive biomarkers of the efficacy in advanced PSC with immunotherapy.
Case report: Primary myelofibrosis presenting with portal hypertension mimicking cirrhosis
Authors: Xiayu Gan, Shengjie Yu, Min Zhu, Bo Ning, Song He, Xiaoyue Xie, Linshuang Tu, Huihong Yu
Journal: Front Med (Lausanne) (2024)
Keywords: cirrhosis, liver biopsy, portal hypertension, primary myelofibrosis, treatment
MeSH terms: Case Reports

Primary myelofibrosis (PMF) is an infrequent etiology of noncirrhotic portal hypertension (PH). In clinical settings, non-cirrhotic PH is often misdiagnosed as cirrhotic PH. This case report details a patient who exhibited recurrent esophageal variceal hemorrhage and was initially misdiagnosed with cirrhosis. Initially poised for liver transplantation, the patient's liver biopsy revealed no significant cirrhosis but showed signs of extramedullary hematopoiesis (EMH). Following the accurate diagnosis of PMF, the patient underwent standard treatment, leading to an absence of recurrent gastrointestinal hemorrhage due to esophageal varices for nearly three years.
Perilymphatic fistula with characteristic findings of the inner ear by contrast-enhanced magnetic resonance imaging: a case report
Authors: Yusuke Ito, Toru Seo, Yoshiyuki Sasano, Fumihiro Mochizuki, Izumi Koizuka
Journal: Front Neurol (2023)
Keywords: hydrops, reissner's membrane, magnetic resonance imaging, perilymphatic fistula, vhit, vestibular atelectasis
MeSH terms: Case Reports

A perilymphatic fistula (PLF) presents with abnormal traffic in the otic capsule, causing cochlear and vestibular symptoms. However, the mechanisms underlying symptom recurrence remain controversial. Herein, we report the case of a 27-year-old female who complained of hearing disturbance in her right ear and recurrent vertigo after sudden onset of hearing loss with vertigo. The caloric test revealed unilateral weakness in the right ear, and the video head impulse test (vHIT) showed decreased vestibulo-ocular reflex (VOR) gain. Contrast-enhanced magnetic resonance imaging (MRI) using hybrid of reversed image of positive endolymph signal and negative image of perilymph signal (HYDROPS) indicated a collapsed endolymphatic space. As the vestibular symptoms did not improve, an exploratory tympanotomy was performed on the right ear. Although perilymph leakage was not noted in the oval or round windows, both windows were sealed with connective tissue. The patient's vestibular symptoms rapidly improved after surgery, and postoperative contrast-enhanced MRI showed improvement in the collapsed endolymphatic space. Although the caloric test revealed unilateral weakness, the VOR gain on the vHIT improved to normal on the right side. Thus, these findings indicated that recurrent symptoms caused by PLF are associated with a collapsed endolymphatic space. We speculate that the collapsed endolymphatic space was due to a ruptured Reissner's membrane. We hypothesized that sealing the fistula would promote normalization of perilymph pressure. The ruptured Reissner's membrane may have been gradually repaired as vestibular symptoms improved. This case adds to the existing literature on the occurrence of the "double-membrane break syndrome". Collapse of the endolymph due to a ruptured Reissner's membrane may be the cause of PLF symptoms.
Post-COVID-19 headache- NDPH phenotype: a systematic review of case reports
Authors: Neetu Rani Dhiman, Deepika Joshi, Royana Singh, Vyom Gyanpuri, Anand Kumar
Journal: Front Pain Res (Lausanne) (2024)
Keywords: covid-19, headache—classification, pain, persistent (chronic) pain, review—systematic
MeSH terms: Systematic Review

Background and objectives:
Post-acute COVID-19 syndrome or "long COVID" affects patients even after the recovery from Covid infection in various ways. Persistent headache or New Daily Persistent Headache (NDPH) is one of such symptoms. In this review, we will discuss about the case-reports of post covid-19 headache- NDPH phenotype both after and in the course of COVID-19 infection.
Methods:
Case reports/studies talked about patients having NDPH around the disease either immediately or late post COVID were included. Data was taken from the source and synthesised on a qualitative basis.
Results:
Literature search showed 3,538 articles, out of which 12 were screened as per the eligibility criteria and finally, 4 case reports on NDPH and Covid-19 were chosen for analysis from the database and by human search. All case reports justify the criteria for acceptability in quality for this systematic review.
Conclusion:
NDPH in and around Covid 19 infection is something that is currently an ingenious debated topic in the scientific community. More case studies should be written and published on the same subject so that a large systematic review could be conducted.
Trial registration information:
The review is registered in Prospero with no. Identifier (CRD42022354912).
Systematic review registration:
https://www.crd.york.ac.uk/, PROSPERO (CRD42022354912).
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
Authors: Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri
Journal: Front Psychiatry (2024)
Keywords: ptchd1 gene, autism spectrum disorder, cognitive-behavioral phenotype, intellectual disability, rare genetic syndrome

Introduction:
X-linked PTCHD1 gene has recently been pointed as one of the most interesting candidates for involvement in neurodevelopmental disorders (NDs), such as intellectual disability (ID) and autism spectrum disorder (ASD). PTCHD1 encodes the patched domain-containing protein 1 (PTCHD1), which is mainly expressed in the developing brain and adult brain tissues. To date, major studies have focused on the biological function of the PTCHD1 gene, while the mechanisms underlying neuronal alterations and the cognitive-behavioral phenotype associated with mutations still remain unclear.
Methods:
With the aim of incorporating information on the clinical profile of affected individuals and enhancing the characterization of the genotype-phenotype correlation, in this study, we analyze the clinical features of four individuals (two children and two adults) in which array-CGH detected a PTCHD1 deletion or in which panel for screening non-syndromal XLID (X-linked ID) detected a PTCHD1 gene variant. We define the neuropsychological and psychopathological profiles, providing quantitative data from standardized evaluations. The assessment consisted of clinical observations, structured interviews, and parent/self-reported questionnaires.
Results:
Our descriptive analysis align with previous findings on the involvement of the PTCHD1 gene in NDs. Specifically, our patients exhibited a clinical phenotype characterized by psychomotor developmental delay- ID of varying severity. Interestingly, while ID during early childhood was associated with autistic-like symptomatology, this interrelation was no longer observed in the adult subjects. Furthermore, our cohort did not display peculiar dysmorphic features, congenital abnormalities or comorbidity with epilepsy.
Discussion:
Our analysis shows that the psychopathological and behavioral comorbidities along with cognitive impairment interfere with development, therefore contributing to the severity of disability associated with PTCHD1 gene mutation. Awareness of this profile by professionals and caregivers can promote prompt diagnosis as well as early cognitive and occupational enhancement interventions.
Schwannoma of the Sigmoid Colon: A Rare Case
Authors: Bushra A Zainaldeen, Amr S Alaus, Mariam AlKooheji, Jaffar Alkhuzaie, Safa Alshaikh
Journal: Cureus (2024)
Keywords: colon, gastrointestinal, peripheral nerve sheath tumor, schwannoma, sigmoid
MeSH terms: Case Reports

Schwannoma is a type of peripheral nerve sheath tumor that is often found in the head and neck. Schwannomas in the digestive system, particularly the colon and rectum, are exceptionally rare, and they are mostly non-malignant and asymptomatic although sometimes patients can present with symptoms similar to those observed in patients with other gastrointestinal tumors like abdominal pain, fullness, nausea, vomiting, and change in bowel habits. For diagnosis and treatment, surgical resection along with biopsy is the gold standard. In this paper, we describe a rare case of sigmoid schwannoma that was successfully treated in our department by surgical resection.
Case report: Unilateral GPi DBS in secondary myoclonus-dystonia syndrome after acute disseminated encephalomyelitis
Authors: Alexander Calvano, Laura Beccaria, Lars Timmermann, Miriam H A Bopp, Marko Gjorgjevski, Christopher Nimsky, David J Pedrosa
Journal: Front Neurol (2023)
Keywords: acute disseminated encephalomyelitis, connectome analysis, deep brain stimulation, myoclonus-dystonia, neuromodulation
MeSH terms: Case Reports

Introduction:
Deep brain stimulation (DBS) is an established and effective therapy for movement disorders. Here, we present a case of secondary myoclonus-dystonia syndrome following acute disseminated encephalomyelitis (ADEM) in childhood, which was alleviated by DBS. Using a patient-specific connectome analysis, we sought to characterise the fibres and circuits affected by stimulation.
Case report:
We report a case of a 20-year-old man with progressive dystonia, myoclonic jerks, and impaired concentration following childhood ADEM. Motor assessments utilising the Unified Myoclonus Rating Scale (UMRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) revealed a greater improvement in dystonia compared to myoclonus following adjustments of DBS parameters. These adjustments were based on visualisation of electrode position and volume of tissue activated (VTA) 3 years after surgery. A patient-specific connectome analysis using the VTA as a region of interest revealed fibre tracts connecting to the cerebello-thalamo-cortical network and the superior frontal gyrus in addition to basal ganglia circuits as particularly effective.
Conclusion:
Globus pallidus internus (GPi) DBS shows promise as a treatment for secondary myoclonus-dystonia syndromes. Personalised structural considerations, tailored to individual symptoms and clinical characteristics, can provide significant benefits. Patient-specific connectome analysis, specifically, offers insights into the structures involved and may enable a favourable treatment response.
Phospholipase A2 receptor-negative membranous nephropathy presenting as a rare renal manifestation of IgG4-related disease
Authors: Srikar Sama, Alexander Weickhardt, Preethi Subramanian, Pooja Reddy
Journal: SAGE Open Med Case Rep (2024)
Keywords: igg4-related disease, pla2r-negative, rituximab, secondary membranous nephropathy, tubulointerstitial nephritis
MeSH terms: Case Reports

IgG4-related disease is a fibroinflammatory condition characterized by dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells affecting multiple organs. Though the most common renal manifestation of IgG4-related disease is tubulointerstitial nephritis, it can rarely present as secondary membranous nephropathy. We present a case of a 75-year-old male with phospholipase A2 receptor-negative membranous nephropathy as an atypical manifestation of IgG4-related disease. The patient presented with nephrotic syndrome and was found to have elevated serum IgG4 levels and IgG4-positive plasma cells in the kidney biopsy. He was successfully treated with corticosteroids and rituximab, resulting in significant improvement in proteinuria and normalization of IgG4 levels. This case highlights the importance of considering IgG4-related disease in patients with phospholipase A2 receptor-negative membranous nephropathy, especially in those with a history of other organ involvement. Early recognition and treatment of IgG4-related disease are crucial to prevent progressive kidney damage and improve patient outcomes.
Informal and revolutionary feminist placemaking
Authors: Asma Mehan
Journal: Front Sociol (2024)
Keywords: iranian studies, feminist placemaking, global south urbanism, informal placemaking practices, revolutionary placemaking
MeSH terms: Review

Urban spaces, often emerging outside formal, recognized boundaries, underscore the pivotal role women play in shaping these environments. Despite the enduring influence of patriarchal and hierarchical structures that render these spaces overtly gendered, it is within these contexts that women's actions become particularly transformative. Drawing from feminist urban theories of the global south, this paper investigates informal placemaking, feminist urban activism, revolutionary placemaking, online protest movements, and the networks that support women's solidarity groups. Employing a mixed-methods approach that includes case studies, interviews with activists, and social media analysis, this research focuses on Iran, with a specific emphasis on the recent 'Women, Life, Freedom' movement. This study not only highlights how women navigate, contest, and reshape urban spaces through feminist urban activism and informal revolutionary placemaking but also anticipates the broader implications of these actions for urban planning and policy. By analyzing and comparing these case studies, we aim to uncover the commonalities, differences, challenges, and opportunities between informal/formal, state-led/bottom-up, and revolutionary feminist placemaking practices in Iran. The findings of this paper are expected to contribute valuable insights into the dynamics of feminist urbanism and suggest avenues for future research in enhancing the inclusivity and responsiveness of urban spaces to gendered needs and activism.
Case report: Primary CDK4/6 inhibitor and endocrine therapy in locally advanced breast cancer and its effect on gut and intratumoral microbiota
Authors: Guilherme Vilhais, Diogo Alpuim Costa, Mário Fontes-Sousa, Pedro Casal Ribeiro, Filipa Martinho, Carolina Botelho de Sousa, Catarina Rodrigues Santos, Ida Negreiros, Ana Canastra, Paula Borralho, Ana Guia Pereira, Cristina Marçal, José Germano Sousa, Renata Chaleira, Júlio César Rocha, Conceição Calhau, Ana Faria
Journal: Front Oncol (2024)
Keywords: cdk 4/6 inhibitors, breast cancer, gut microbiome, gut microbiota, intratumoral microbiota, microbiome, microbiota
MeSH terms: Case Reports

Locally advanced breast cancer poses significant challenges to the multidisciplinary team, in particular with hormone receptor (HR) positive, HER2-negative tumors that classically yield lower pathological complete responses with chemotherapy. The increasingly significant use of CDK 4/6 inhibitors (CDK4/6i) plus endocrine therapy (ET) in different breast cancer settings has led to clinical trials focusing on this strategy as a primary treatment, with promising results. The impact of the microbiota on cancer, and vice-versa, is an emerging topic in oncology. The authors report a clinical case of a postmenopausal female patient with an invasive breast carcinoma of the right breast, Luminal B-like, staged as cT4cN3M0 (IIIB). Since the lesion was considered primarily inoperable, the patient started letrozole and ribociclib. Following 6 months of systemic therapy, the clinical response was significant, and surgery with curative intent was performed. The final staging was ypT3ypN2aM0, R1, and the patient started adjuvant letrozole and radiotherapy. This case provides important insights on primary CDK4/6i plus ET in locally advanced unresectable HR+/HER2- breast cancer and its potential implications in disease management further ahead. The patient's gut microbiota was analyzed throughout the disease course and therapeutic approach, evidencing a shift in gut microbial dominance from Firmicutes to Bacteroidetes and a loss of microbial diversity following 6 months of systemic therapy. The analysis of the intratumoral microbiota from the surgical specimen revealed high microbial dissimilarity between the residual tumor and respective margins.
Isolation and characterisation of Leishmania (Leishmania) infantum from cutaneous leishmaniasis patients in northeast Brazil
Authors: Gustavo Henrique Corrêa Soares, Gustavo Rolim Barbosa, Ana Jessica Sousa Coelho, Giovanna Bedin Caetano, Conceição de Maria Pedrozo E Silva de Azevedo, Adriano Cappellazzo Coelho, Mayara Ingrid Souza Lima, Beatriz Simonsen Stolf
Journal: Mem Inst Oswaldo Cruz (2024)
MeSH terms: Leishmania infantum / genetics, Leishmania infantum / isolation & purification, Leishmaniasis, Cutaneous / parasitology, Case Reports, Adult, Brazil, DNA, Protozoan, Female, Humans, Male, Polymerase Chain Reaction, DNA, Protozoan

Background:
In Brazil, Leishmania (Leishmania) infantum is a widely distributed protozoan parasite. The human leishmaniasis caused by this species is often associated with visceral form. Tegumentary leishmaniasis (TL) cases due to L. (L.) infantum in the country are considered rare but may be underestimated. Although probably uncommon, these cases represent a new challenge to the prevention and control of leishmaniasis.
Objectives:
Here, we describe two distinct cases of TL with atypical clinical presentations caused by L. (L.) infantum.
Methods and findings:
Parasites were isolated from cutaneous lesions of the two patients and typed as L. (L.) infantum after sequencing of the ribosomal DNA internal transcribed spacer. The dermotropic L. (L.) infantum isolates were compared in terms of growth culture patterns, metacyclogenesis and in vitro infectivity in macrophages.
Main conclusions:
This study addresses the emergence of L. (L.) infantum as a causative agent of cutaneous disease in a visceral leishmaniasis hotspot located in northeast Brazil. The data presented provides novel information about the presence of dermotropic L. (L.) infantum in the country and demonstrates the infectivity potential of theses isolates.
A qualitative case study of pregnancy and early parenting in Canada's federal prisons for women
Authors: Martha Paynter, Ruth Martin-Misener, Adelina Iftene, Gail Tomblin-Murphy
Journal: PLoS One (2023)
MeSH terms: Parenting / psychology, Prisoners, Canada, Female, Humans, Mothers / psychology, Pregnancy, Prisons, Qualitative Research

Objective:
The aim of this study was to understand the experiences of pregnant people and new parents in Canadian federal prisons for women, and to better understand their ability to participate in the institutional Mother Child Program.
Methods:
This qualitative case study used semi-structured interviews with people who experienced federal incarceration during pregnancy or the early parenting years.
Findings:
Major themes in the analysis include: 1) Reasons why- and why not- to participate in the Mother Child Program; 2) Mothering from inside; 3) Health care; and 4) Strategies and survival.
Key conclusions:
Mothers describe multiple reasons for choosing not to participate or being ineligible for the Mother Child Program; separation as common and traumatic; health services as inadequate; and mental health concerns being met with punishment. Alternatives to incarceration are recommended.
Nasopalatine duct cyst as a delayed consequence of dental implant placement in the anterior maxilla: A case report
Authors: Mohammadreza Talebi Ardakani, Behzad Houshmand, Aida Kheiri
Journal: J Adv Periodontol Implant Dent (2023)
Keywords: case report, dental implant, oral pathology, xenograft
MeSH terms: Case Reports

Dental implants are now the best treatment method to replace missing teeth. However, complications may necessitate further therapeutic interventions because of anatomic limitations and mistakes during surgical procedures. In this case report, a nasopalatine duct cyst (NPDC) due to implant placement was studied. After clinical and radiographic evaluation, unilocular radiolucency with disturbance to the nasopalatine canal was observed. Following that, flap elevation was performed. Subsequently, the cyst was enucleated, and the bone defect was filled with xenograft and further covered with a resorbable membrane. Histopathology results confirmed NPDC as the definite diagnosis. After six months, the defect was completely resolved.
Delayed Surgical Treatment of a CE1 Lung Cyst Resulting in Pericystectomy of CE4 Cyst
Authors: Gian Luca D'Alessandro, Agostina Pontarelli, Armanda Leka, Dino Casazza, Raffaella Lissandrin, Tommaso Manciulli, Annarita Botta, Roberto Parrella, Enrico Brunetti, Pietro Rinaldi
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Lung is the second most common locationof cystic echinococcosis (CE), after the liver. Diagnosis of lung CE is often incidental, and clinical manifestations depend on the location and size of the cyst, the most common being chest pain, shortness of breath, expectoration of fragments of endocyst, and haemoptysis. Surgery is the primary treatment, with a minor role for medical therapy. Delayed diagnosis and treatment may have important consequences. We present a case of lung CE in whichsurgical treatment was delayed due to the first wave of COVID-19. Since surgery could not be performed immediately, the patient was kept on albendazole and the cyst stage moved from CE1 to CE3a, to CE4, eventually requiring a more aggressive pericystectomy instead of the commonly performed endocystectomy. The clinical and imaging characteristics of a rare CE4 cyst of the lung are reported.