OpenMed/multicare-articles huggingface dataset:
Case report: Coexistence of sigmoid tumor with unusual pathological features and multiple colorectal neuroendocrine tumors with lymph node metastases
Authors: Shu Pang, Jiugang Song, Kun Zhang, Jia Wang, Haiying Zhao, Yongjun Wang, Peng Li, Ye Zong, Yongdong Wu
Journal: Front Oncol (2023)
Keywords: adenocarcinoma, case report, lymph nodes metastases, multiple colorectal neuroendocrine tumors, neuroendocrine, sigmoid neoplasm
MeSH terms: Case Reports

The coexistence of adenocarcinoma and neuroendocrine neoplasm (NEN) in the same tumor is rare. What is rarer is that the neuroendocrine component is a well-differentiated neuroendocrine tumor (NET) Grade (G) 1. Most colorectal NETs are single, but multiple neuroendocrine tumors (M-NETs) are rare. Well-differentiated NETs rarely metastasize. Here, we present a unique case of a synchronous sigmoid tumor and multiple colorectal NETs with lymph node metastases. The sigmoid tumor consisted of adenocarcinoma and NET G1. The metastatic component was NET G1. A 64-year-old man underwent a colonoscopy for persistent changes in bowel habits and positive fecal occult blood for 1 year. An ulcerative lesion, which was diagnosed as colon cancer, was seen in the sigmoid colon. In addition, scattered lesions could be seen in the colon and rectum. Surgical resection was performed. Pathological findings suggested that the ulcerative lesion was composed of 80% adenocarcinoma and 20% neuroendocrine component (NET G1), while the remaining lesions were consistent with NET G1. At the same time, 11 lymph nodes around the resected intestinal segment were invaded by NET G1. The prognosis of the patient was good. After 13 months of follow-up, no recurrence and no metastasis were found. We hope to provide a reference and improve our understanding of the clinicopathological features and biological behavior of these unique tumors. We also aim to emphasize the importance of radical surgery and individualized treatment.
Primary follicular lymphoma of the epididymis positive for t(14;18)(q32;q21)/IGH-BCL2 and negative for BCL2 protein expression: a case report
Authors: Vincenzo Tralongo, Gaspare Becchina, Claudia Nagar, Gabriella Ottoveggio, Silvia Mason, Barbara Seno, Francesca Sessa, Milo Frattini, Francesco Genovese
Journal: J Med Case Rep (2012)

Introduction:
Non-Hodgkin lymphoma (NHL) can involve the paratesticular organs as the primary disease, as primary testicular lymphoma that secondarily involves the paratesticular structures, as the initial site of presentation of occult nodal disease or as the result of disease dissemination. Primary follicular lymphoma of the epididymis in an adult is extremely rare. Little is known about primary adult paratesticular/epididimal lymphomas.
Case presentation:
We report a rare case of primary follicular non-Hodgkin lymphoma of the epididymis in a 90-year-old Caucasian man who presented with a left scrotal mass. Bone marrow biopsy was negative and computed tomography of the total body revealed no evidence of extratesticular involvement. Macroscopically, the epididymis was replaced completely by a uniform mass. Histologic studies revealed a dense lymphoid infiltrate predominantly composed of centrocytes with admixed centroblasts. Immunohistochemical analyses demonstrated that neoplastic cells strongly expressed CD45RB, CD20, CD79a, bcl-6 and CD10; bcl-2 immunostaining was negative. Molecular studies showed the presence of the monoclonal IgH gene rearrangement and the IgH/BCL2 rearrangement. The lymphoma was classified as follicular lymphoma, low grade, grade 1-2. The patient subsequently underwent radical orchiectomy, did not receive chemotherapy and post-operative follow-up showed absence of disease recurrence.
Conclusions:
The case of primary follicular lymphoma of epididymis, reported here, is considered a very rare event. It is characterized by clinically indolent localized disease, a good clinical outcome, lack of expression of BCL2 protein and the presence of the t(14;18)(q32;q21)/IGH-BCL2. Even if it is a single case, the primary follicular lymphoma epididymis with t(14;18) could represent either a variant of the previously reported t(14;18)-negative primary paratesticular follicular lymphoma or a distinct biological entity. To report additional cases in the future would be helpful in resolving this question.
Promotion of Wellbeing for Children of Parents With Mental Illness: A Model Protocol for Research and Intervention
Authors: Charlotte Reedtz, Karin van Doesum, Giulia Signorini, Camilla Lauritzen, Therese van Amelsvoort, Floor van Santvoort, Allan H Young, Philippe Conus, Richard Musil, Thomas Schulze, Michael Berk, Argyris Stringaris, Geneviève Piché, Giovanni de Girolamo
Journal: Front Psychiatry (2019)
Keywords: children of parents with mental disorders, mental health care for adults, prevention, risk and protective factors, wellbeing
MeSH terms: Case Reports

Background: The main objective of this project is to create a research and intervention model to promote large-scale implementation and evaluations of generic very brief interventions for children of parents with mental disorders (COPMI). Feasible interventions for COPMI aged 0-18 years are highly needed, as this is a large high-risk group in society. Reducing behavioral problems and enhancing wellbeing for families with parents affected by any mental disorder are important preventive initiatives. One key prevention strategy is to reduce the risk and expression of psychopathology in children and to promote wellbeing. The present model protocol offers an intervention for children of parents with mental disorders internationally based on a model already implemented in the Netherlands and Norway. Methods: Participants will be parents receiving treatment in mental health services in participating countries and their minor children aged 6-18 years. Participants should be randomized into an intervention group or control group. Data should be retrieved from electronic patient journals (demographics, DSM 5/ICD-10, SCID, MINI) as well as from assessment measures administered at baseline and follow-up, including the KIDSCREEN-27, Strengths and Difficulties Questionnaire (SDQ), Parents' Evaluations of Developmental Status (PEDS), Parenting Sense of Competence (PSOC), Resilience Scale for Adolescence (READ), Guilt and Shame Questionnaire for Adolescents of Parents with Mental Illness (GSQ-APMI), Mental Health Literacy Scale, and Parent-Child Communication Scale. Results: The hypothesis is that there will be improvements of child behavioral and emotional problems, and outcomes in the project will be reported in terms of parent´s diagnosis, child behavioral and emotional problems, child wellbeing, family communication and functioning, as well as participants' satisfaction. Discussion: This multi-site international protocol will focus the attention of European scientific and policy makers toward COPMI. This young segment of the population is presently almost completely neglected in most European health policies, despite having a large burden of disability and being at risk of transgenerational transmission of psychopathology. We will further discuss the feasibility of a very brief intervention aiming at preventing mental disorders in young people.
Reconstruction of the Adult Hemifacial Microsomia Patient with Temporomandibular Joint Total Joint Prosthesis and Orthognathic Surgery
Authors: Piero Cascone, Valentino Vellone, Valerio Ramieri, Emanuela Basile, Achille Tarsitano, Claudio Marchetti
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Background:
HFM patients' reconstruction has always been a challenge for maxillofacial surgeons, and numerous reconstructive techniques have been described. Surgical treatment depends on the patient's age and contemplates Temporomandibular Joint (TMJ) reconstruction in conjunction with orthognathic surgery, usually necessary following completion of growth to maximize the functional and esthetic results. Distraction osteogenesis had gained popularity as valid alternative in growing patients, but the two primary methods to reconstruct the TMJs involve the use of autogenous, using free or microvascular bone grafts, or alloplastic graft, but there is no widely accepted method.
Methods:
The increasing use of temporomandibular prosthesis for temporomandibular problems has led us to use them even in HFM. A case of female nongrowing patients with HFM type IIb treated with temporomandibular prosthesis in an all-in-one protocol is presented.
Results:
Incisal opening, measured with BioPAK system (Bioresearch Inc., Milwaukee, USA), was 21.4 mm in the presurgical period and 32.2 mm after all-in-one procedure, for an increase of 50.5%. Excursive movement to the right side was 2.2 mm in the presurgical period and was 1.5 mm after surgery, for a decrease of 31.8%. Left excursion movement changed from 5 mm to 6.1 mm, for an increase of 22.0%.
Conclusions:
The TMJ Concepts patient-fitted TJP in conjunction with orthognathic surgery for TMJ and jaw reconstruction is a valid option for patients with HFM.
Trichloroacetic Acid Ingestion: Self-Harm Attempt
Authors: E R Black
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

Objective:
Trichloroacetic acid (TCAA), or trichloroethanoic acid, is a chemical analogue of acetic acid where three methyl group hydrogen atoms are replaced by chlorine. TCAAs are also abbreviated and referred to as TCAs, causing confusion with the psychiatric antidepressant drug class, especially among patients. TCAAs exist in dermatological treatments such as chemical peels or wart chemoablation medication. TCAA ingestion or overdose can cause gastric irritation symptoms including vomiting, diarrhea, or lassitude. This symptomatology is less severe than TCA overdose, where symptoms may include elevated body temperature, blurred vision, dilated pupils, sleepiness, confusion, seizures, rapid heart rate, and cardiac arrest. Owing to the vast difference in symptoms, the need for clinical intervention differs greatly. While overdose of either in a self-harm attempt can warrant psychiatric hospital admission, the risk of death in TCAA ingestion is far less.
Case report:
A patient ingested TCAA in the form of a commercially available dermatological chemical peel as a self-harm attempt, thinking that it was a more injurious TCA.
Conclusion:
Awareness among physicians, particularly psychiatrists, regarding this relatively obscure chemical compound (TCAA) and its use by suicidal patients mistakenly believing it to be a substance that can be significantly more lethal (TCA), is imperative.
Targeting ALK in Neuroendocrine Tumors of the Lung
Authors: Dilara Akhoundova, Martina Haberecker, Ralph Fritsch, Sylvia Höller, Michael K Kiessling, Markus Rechsteiner, Jan H Rüschoff, Alessandra Curioni-Fontecedro
Journal: Front Oncol (2022)
Keywords: alk inhibitors, alk rearrangements, large cell neuroendocrine carcinoma, neuroendocrine tumors of the lung, targeted treatment

Background:

Anaplastic lymphoma kinase (ALK) rearrangements are known oncogenic drivers in non-small cell lung cancer (NSCLC). Few case reports described the occurrence of such rearrangements in large cell neuroendocrine carcinomas (LCNECs) of the lung without information on clinical responses to ALK tyrosine kinase inhibitors (TKIs) in these cases. Currently, neuroendocrine tumors of the lungs are not screened for ALK rearrangements.
Methods:
To illustrate the clinical impact of molecular characterization in LCNECs, we report the disease course in three patients with ALK-rearranged metastatic LCNEC from our clinical routine, as well as their treatment response to ALK TKIs (index cases). To gain insight into the prevalence of ALK rearrangements in neuroendocrine tumors of the lung, we analyzed a retrospective cohort of 436 tumor biopsies including LCNEC (n = 61), small cell lung cancer (SCLC) (n = 206), typical (n = 91) and atypical (n = 69) carcinoids, and mixed histology (n = 9) for the presence of ALK rearrangements using a sequential diagnostic algorithm. ALK immunohistochemistry (IHC) was evaluable in 362 cases; fluorescence in situ hybridization (FISH) was evaluable in 28 out of the 35 IHC-positive cases, followed by next-generation sequencing (NGS) that was available in 12 cases.
Results:
Within the retrospective cohort, ALK IHC was positive in 35 out of 362 (9.7%) evaluable samples. FISH was positive in 3 out of the 28 (10.7%) evaluable cases: 2 with atypical carcinoids and 1 with LCNEC. Additionally, the 3 index cases showed positive ALK IHC, which was confirmed by NGS. Within the retrospective cohort, NGS confirmed the presence of an ALK genomic rearrangement in one FISH-positive atypical carcinoid where material was sufficient for sequencing. Two out of three patients with metastatic ALK-rearranged LCNEC received up-front treatment with the ALK TKI alectinib and showed rapid tumor response at all metastatic sites, including multiple brain metastases.
Conclusions:

ALK rearrangements represent rare but targetable oncogenic driver alterations in LCNEC. Contrarily to NSCLC, the detection of ALK rearrangements in neuroendocrine tumors of the lung is challenging, since ALK IHC can lead to false-positive results and therefore needs confirmation by FISH or NGS. Up-front comprehensive molecular profiling with NGS should be performed in metastatic LCNEC in order not to miss actionable genomic alterations.
A Case of Post-traumatic Persistent Nasal Pain
Authors: Marta Puma, Barbara Petolicchio, Alessandro Viganò, Ilaria Maestrini, Vittorio Di Piero
Journal: Front Neurol (2020)
Keywords: headache, intranasal steroids, migraine, post-traumatic neuropathy, radix nasi
MeSH terms: Case Reports

Nasal pain is a complex and misdiagnosed entity with various peripheral and central etiologies. It is often a bothersome, treatment-resistant condition and could be spontaneous or post-traumatic. Although pain usually occurs immediately after injury, rarely it may occur long after the nasal trauma. Due to its rarity, successful treatment is difficult because of the lack of standardized options. According to our experience, an effective therapeutic approach should take into account both local inflammatory factors and aberrant nerve modulations. We describe the case of a young woman complaining of a delayed onset persistent nasal pain occurring 1 month after facial trauma and who has improved with the addition of intranasal steroids to first-line neuropathic pain treatment.
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions
Authors: Arianna Manini, Leonardo Caporali, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Dario Ronchi
Journal: Front Genet (2022)
Keywords: cpeo, rnaseh1, mitochondrial dna, mtdna maintenance disorders, myopathy, ribonuclease h1
MeSH terms: Case Reports

Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues. Among the nuclear genes associated with mtDNA maintenance disorders, RNASEH1 mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia. The encoded enzyme, ribonuclease H1, is involved in mtDNA replication, whose impairment leads to an increase in replication intermediates resulting from mtDNA replication slowdown. Here, we describe two unrelated Italian probands (Patient 1 and Patient 2) affected by chronic PEO, ptosis, and muscle weakness. Cerebellar features and severe dysphagia requiring enteral feeding were observed in one patient. In both cases, muscle biopsy revealed diffuse mitochondrial abnormalities and multiple mtDNA deletions. A targeted next-generation sequencing analysis revealed the homozygous RNASEH1 mutations c.129-3C>G and c.424G>A in patients 1 and 2, respectively. The c.129-3C>G substitution has never been described as disease-related and resulted in the loss of exon 2 in Patient 1 muscle RNASEH1 transcript. Overall, we recommend implementing the use of high-throughput sequencing approaches in the clinical setting to reach genetic diagnosis in case of suspected presentations with impaired mtDNA homeostasis.
Fludrocortisone therapy in renal transplant recipients with persistent hyperkalemia
Authors: K Marfo, D Glicklich
Journal: Case Rep Transplant (2012)

Hyperkalemia after kidney transplantation is a common electrolyte disturbance and the risk factors are multifactorial. Pharmacotherapeutic agents for chronic management of hyperkalemia in kidney transplant patients may be relatively contraindicated or provide suboptimal efficacy. Fludrocortisone, an endogenous mineralocorticoid mimics the actions of aldosterone, hence hyperkalemia reversal. We describe three- case series of persistent hyperkalemia with demonstrated benefit from fludrocortisone therapy. Our three renal transplant recipients with multiple emergency room visits for elevated serum potassium levels despite treatment with diuretics, sodium bicarbonate, and sodium polystyrene sulfonate responded well to fludrocortisones therapy. Upon fludrocortisone initiation and maintenance therapy, all three patients experienced a decline in serum potassium levels to normal reference range.
Systemic Exophiala equina infection in an Eastern box turtle ( Terrapene carolina carolina): a case report and literature review
Authors: Daniel Felipe Barrantes Murillo, Stephanie Anderson, Christian Capobianco, Gregory A Lewbart, Nathan P Wiederhold, Connie F Cañete-Gibas, Tatiane Terumi Negrão Watanabe
Journal: Front Vet Sci (2023)
Keywords: exophiala equina, eastern box turtle, phaeohyphomycosis, reptile, systemic mycosis
MeSH terms: Case Reports

Phaeohyphomycosis is an infection caused by melanized fungi. This disease has been reported in several animal species including invertebrates, cold-blooded vertebrates, mammals, and humans. Melanized fungi have similar phenotypical features and confirmation requires culture and molecular diagnostics. To exemplify this we present a case of a 333 g adult of unknown age, free-ranging, male Eastern box turtle (Terrapene carolina carolina) that was referred to the Turtle Rescue Team at North Carolina State University for evaluation of multilobulated masses occupying the entire left orbit and at the right forelimb on the plantarolateral aspect of the foot. A fine needle aspirate cytologic examination of the mass on the right forelimb revealed large numbers of inflammatory cells and fungal organisms. Histopathology of the skin biopsies from the right forefoot was consistent with phaeohyphomycosis. A course of antifungal medication was started (Fluconazole 21 mg/kg loading dose IV then 5 mg/kg PO SID q 30 days). Due to concern for the patient's quality of life and the lack of a curative treatment plan, humane euthanasia was elected. Gross and histological postmortem examination confirmed the presence of multiple coelomic masses similar in appearance to those observed in the left orbit and right forefoot indicating disseminated phaeohyphomycosis. A swab of the periocular mass was submitted for fungal culture and phenotypic identification. The isolate was later identified as Exophiala equina through a combination of phenotypic characterization and sequencing of the ITS region of the nuclear rDNA. Exophiala is a genus in the family Herpotrichiellaceae, order Chaetothyriales and is considered an opportunistic "black yeast" causing infection in aquatic invertebrates, fish, amphibians, reptiles, and mammals including humans. Exophiala equina is infrequently reported in animals, with only three cases in the literature including the herein report.
BRAF Signaling Inhibition in Glioblastoma: Which Clinical Perspectives?
Authors: Victoria Bouchè, Giovanni Aldegheri, Carmine Antonio Donofrio, Antonio Fioravanti, Samuel Roberts-Thomson, Stephen B Fox, Francesco Schettini, Daniele Generali
Journal: Front Oncol (2021)
Keywords: braf v600e, braf-inhibitors, idh, mek-inhibitors, epithelioid glioblastoma, glioblastoma, targeted therapy
MeSH terms: Review

IDH-wild type (wt) glioblastoma (GB) accounts for approximately 90% of all GB and has a poor outcome. Surgery and adjuvant therapy with temozolomide and radiotherapy is the main therapeutic approach. Unfortunately, after relapse and progression, which occurs in most cases, there are very limited therapeutic options available. BRAF which plays a role in the oncogenesis of several malignant tumors, is also involved in a small proportion of IDH-wt GB. Previous successes with anti-B-Raf targeted therapy in tumors with V600E BRAF mutation like melanoma, combined with the poor prognosis and paucity of therapeutic options for GB patients is leading to a growing interest in the potential efficacy of this approach. This review is thus focused on dissecting the state of the art and future perspectives on BRAF pathway inhibition in IDH-wt GB. Overall, clinical efficacy is mostly described within case reports and umbrella trials, with promising but still insufficient results to draw more definitive conclusions. Further studies are needed to better define the molecular and phenotypic features that predict for a favorable response to treatment. In addition, limitations of B-Raf-inhibitors, in monotherapy or in combination with other therapeutic partners, to penetrate the blood-brain barrier and the development of acquired resistance mechanisms responsible for tumor progression need to be addressed.
I-125 seeds brachytherapy combined with immunotherapy for MET amplification in non-small cell lung cancer from clinical application to related lncRNA mechanism explore: a case report
Authors: Mingxing Yang, Yuanli You, Xiuqing Wang, Wen Dong
Journal: Front Cell Dev Biol (2023)
Keywords: met aberration, brachytherapy, immunotherapy, non-small cell lung cancer, outcome

Advanced non-small cell lung cancer (NSCLC) with MET amplification primarily relies on MET inhibitors for treatment, but once resistance occurs, the available treatment options are limited and the prognosis is typically poor. A 57-year-old man with advanced NSCLC and C-MET amplification was initially treated with crizotinib but developed progressive disease. After the antirotinib treatment, he achieved a partial response for a year. Genetic testing showed high PD-L1 expression, and he was treated with pembrolizumab and chemotherapy for 3 months, with partial response. Maintenance therapy with pembrolizumab and local I-125 seeds brachytherapy (ISB) was given after the lung lesion progressed but other lesions remained stable. The therapy resulted in significant resolution of the right upper lung lesion. It demonstrates the effectiveness of ISB-ICI combination in treating MET amplification advanced NSCLC. Ongoing research and treatment innovation are important in managing advanced NSCLC with complex genetic aberrations. To explore the candidate mechanism of ISB therapy response, we download public genetic data and conduct different expression Lncrnas analysis and pathway analysis to discover radiotherapy related sensitive or resistance lncRNAs and pathways, we found that AL654754.1 is a key lncRNA with radiotherapy response, and it also include in classical p53 and Wnt signaling pathway. Overall, the clinical case reports, combined with the exploration of underlying mechanisms, provide positive guidance for the precise treatment of lung cancer.