OpenMed/multicare-articles huggingface dataset:
Stafne's bone defect in a metastatic prostate cancer patient: A diagnostic conundrum
Authors: Wagner-Gomes da Silva, Aristilia-Tahara Kemp, Alan-Roger Dos Santos-Silva, Maria Del Pilar-Estevez Diz, Thais-Bianca Brandão
Journal: J Clin Exp Dent (2018)
MeSH terms: Case Reports

Stafne's bone defect (SBD) is an uncommon bone alteration that affects the mandible and usually presents as an asymptomatic radiolucency located in the posterior region of body or angle of the mandible, below the alveolar canal. Although clinical and radiographic features are more often sufficient for the diagnosis, other lesions and bone alterations have been described in the differential diagnosis and may lead to a misinterpretation and an incorrect diagnosis. Herein, we report a case of an 89-yearold man with metastatic prostate cancer to multiple bones, presenting an asymptomatic solitary well-defined radiolucent image on the right side of the posterior body of the mandible, in close contact with its inferior border. A bone depression was confirmed by computed tomography scans of the mandible and a metastatic inclusion was ruled out by bone scintigraphy with a final diagnosis of SBD. The aim of this report was to highlight the importance of differentiating SBD from metastases in cancer patients and to reinforce the usefulness of multiple imaging modalities in the differential diagnosis of SBD. Key words:Stafne's bone defect, Mandible, Depression, Metastases, Imaging modalities.
Seemingly Harmless Differentiated Thyroid Carcinoma Presenting as Bone Metastasis
Authors: D Magalhães, C Costa, I Furtado, M J Matos, A P Santos, H Duarte, M Afonso, J Lobo, I Torres
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Thyroid carcinoma is the most common endocrine neoplasia. Differentiated thyroid carcinomas (DTCs) represent the majority of cases, which usually follow an indolent clinical course with low mortality rates. The authors describe two cases of well DTC without classic histological poor prognosis features, presenting as extensive and unresectable osteolytic bone metastases. DTCs are considered harmless tumours, due to their benign and silent behaviour. The authors want to underline the importance of clinical awareness during follow-up in cases of DTC, which can be aggressive in presentation and behaviour. Timely identification and diagnosis of these tumours are essential for prompt treatment initiation and improvement of overall survival.
Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment
Authors: Diana Simão Raimundo, Ana Isabel Cordeiro, João Parente Freixo, Marta Valente Pinto, Conceição Neves, João Farela Neves
Journal: Front Pediatr (2023)
Keywords: dada2, adenosine deaminase 2 (ada2), anti-tnf-α, infliximab, leukocytoclastic vasculitis, pericarditis
MeSH terms: Case Reports

Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype. We present a case of an adolescent with recurrent fever, oral aphthous ulcers, and lymphadenopathy from 8 to 12 years of age and subsequently presented with symptomatic neutropenia. After the diagnosis of DADA2, therapy with infliximab was started, but after the second dose, she developed leukocytoclastic vasculitis and showed symptoms of myopericarditis. Infliximab was switched to etanercept, with no relapses. Despite the safety of tumor necrosis factor alpha inhibitors (TNFi), paradoxical adverse effects have been increasingly reported. The differential diagnosis between disease new-onset manifestations of DADA2 and side effects of TNFi can be challenging and warrants further clarification.
Is There an "Acquired Idiopathic Head-Shaking Nystagmus"?-A Discussion of Mechanisms and Clinical Implications Based on a Case Report
Authors: Filipp M Filippopulos, Andreas Zwergal, Doreen Huppert
Journal: Front Neurol (2022)
Keywords: central vestibular system, dizziness, head-shaking nystagmus, oculomotor disturbances, peripheral vestibular system, vertigo

Background:
Head-shaking nystagmus (HSN) occurs in both peripheral and central vestibular disorders. In most cases, HSN can be attributed to an asymmetric peripheral vestibular input or a structural lesion mostly in the cerebellum affecting the central velocity storage mechanism. An isolated HSN is very rare.
Case presentation:
We report on a young female patient with the clinical picture of recurrent episodes of vertigo, which were induced by fast head movements and were accompanied by a severe right-beating HSN with a long time constant of 60 s. There was no other clinical and instrument-based evidence of peripheral vestibular dysfunction (including video head impulse test, caloric test, vestibular-evoked myogenic potentials) or indication of a structural lesion in the nodulus, uvula or pontomedullary brainstem on fine-slice magnetic resonance imaging. She had no previous history of migraine, hearing deficits, or other focal neurological symptoms. Diagnostic criteria for vestibular paroxysmia, vestibular migraine, benign peripheral paroxysmal vertigo, or any other known vestibular disorders were not fulfilled. Chart review in the database of the German Center for Vertigo and Balance Disorders indicated eight additional patients with a similar clinical phenotype between 2018 and 2022.
Conclusion:
We propose a clinical entity called acquired idiopathic head shaking nystagmus (aiHSN) as a rare cause of episodic vertigo induced by fast head movements. Nystagmus characteristics suggest a subtle functional pathology of the central velocity storage mechanism in the nodulus and uvula, which is exacerbated during symptomatic episodes.
A Case Report of a 3-Year-Old Child With Anaphylactic Shock After a Diclofenac Suppository Confirmed by Serial Tryptase and a Basophil Activation Test
Authors: Wun-Yan Huang, Tsu-Man Chiu, Su-Feng Kuo, Wen-Hung Chung, Yi-Giien Tsai
Journal: Front Pediatr (2022)
Keywords: anaphylaxis, basophil activation test, diclofenac, non-steroidal anti-inflammatory drug, tryptase
MeSH terms: Case Reports

Diclofenac is one of the most commonly used non-steroidal anti-inflammatory drug (NSAID) agents for fever management by general practitioners. Anaphylaxis due to suppository of diclofenac sodium (Voltaren) is extremely rare in children. We report the case of a 3-year-old girl with anaphylactic shock after a diclofenac suppository with confirmation by serial tryptase and a basophil activation test.
Case Report: Two clinical cases of Wilms tumor comorbid to gingival fibromatosis in young children with constitutionally mutated REST
Authors: Anastasiya S Salomatina, Liudmila A Yasko, Maria A Kurnikova, Yulia M Mareeva, Ruslan K Abasov, Nina V Gegeliya, Anna M Mitrofanova, Natalia Y Usman, Galina A Novichkova, Alexander E Druy
Journal: Front Oncol (2023)
Keywords: rest (re-1 silencing transcription factor), wilm’s tumor, gingival fibromatosis, next-generation sequence (ngs), pediatric oncology
MeSH terms: Case Reports

Introduction:
Nephroblastoma (Wilms tumor (WT)) is an embryonal tumor accounting for >90% of pediatric renal cancers. About 10% of WTs harbor pathogenic germline mutations. The REST gene, classified as a putative tumor suppressor, is affected in 2% of WTs. High-throughput molecular methods facilitate advanced diagnostics of cancer. In addition to this, germline mutations in REST are also associated with familial gingival fibromatosis (GFM). Reciprocally, none of the articles on RESTmut WT mentions GFM as a comorbid condition. This report provides unique evidence on the WT-GFM comorbidity in RESTmut carriers.
Case presentation:
Patient 1 (a 5-year-old boy with unilateral WT) is a proband, who has two healthy siblings. Patient 2 (a 4-year-old girl with bilateral WT) is a proband from in vitro fertilization (IVF) triplets, with a sister and brother without WT. We analyzed probands' DNA extracted from peripheral blood leucocytes with a custom-targeted next-generation sequencing (NGS)-198 gene panel. The detected variants were checked in family members by Sanger sequencing. Patient 1 had a pathogenic germline mutation in REST: c.1035_1036insTA, p.(E346*), as did his mother and both brothers. There were two other WT cases in this family (proband's maternal uncles). Patient 2 had a pathogenic germline variant in REST: c.2668_2671del, p.(E891Pfs*6), as well as her sister. The mutation was probably inherited from their deceased father, as he had gingival fibromatosis. Family members with REST mutations from both families had gingival fibromatosis. A somatic REST c.663C>A p.C221* mutation was identified in one patient with WT. At the moment both patients with WT are under dynamic observation without signs of the disease.
Conclusion:
Here, we describe two clinical cases of WT in nonrelated young children with germline-inactivating REST variants identified by next-generation sequencing. Both patients present with familial gingival fibromatosis, regarded as clinically useful comorbidity indicative of the tumor predisposition syndrome. The two cases illustrate Wilms tumor-gingival fibromatosis comorbidity in carriers of germline-inactivated REST alleles previously identified as a predisposition factor for both conditions.
Novel Treatment of Disseminated Coccidioidomycosis in a Dog with Voriconazole
Authors: Chantel Raghu, Christopher Reagh
Journal: Case Rep Vet Med (2018)
MeSH terms: Case Reports

A dog with disseminated coccidioidomycosis involving the vertebral, cutaneous, and pulmonary systems was treated successfully with voriconazole after failing traditional therapy with fluconazole and terbinafine. This report is the first to describe the successful management of refractory coccidioidomycosis with voriconazole in a dog.
Body Image and Body Experience Disturbances in Schizophrenia: an Attempt to Introduce the Concept of Body Self as a Conceptual Framework
Authors: Olga Sakson-Obada, Paulina Chudzikiewicz, Daniel Pankowski, Marek Jarema
Journal: Curr Psychol (2018)
Keywords: body image, body self, psychosis, schizophrenia

Disturbances in body experience are described as key schizophrenia symptoms and early disease predictors. In case studies, different disorders relating to body experience are presented, but only a few empirical studies have aimed to distinguish the characteristics of body experience in schizophrenia, and these have been selected arbitrarily and without reference to cohesive theoretical model. To integrate this fragmentary approach, we propose a body self (BS) model, composed of: functions; representations (e.g., body image); and sense of body identity. The aim of the study was to determine whether the BS differentiates schizophrenic patients from healthy controls, and to investigate the relations between aspects of BS and a history of illness and clinical characteristics. The Body Self Questionnaire and the Positive and Negative Syndrome Scale were administered to 63 schizophrenic patients and 63 healthy subjects. The difference was found in the functions of the body-self (perceiving, interpreting, and regulating body experience), in the sense of body identity, and in one of three aspects of body image explored (e.g., acceptance of biological sex). Disturbances in BS were related to positive symptoms and to the number of hospitalizations for other diseases. Together, the results demonstrate that schizophrenia is more body experience than body image disorder, since the negative emotional attitude towards the body and acceptance of fitness were not distinctive for schizophrenia. The link between the disturbances in BS and the number of nonpsychiatric hospitalizations suggests that misinterpretation of body experiences in schizophrenia can promote a search for medical attention.
Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families
Authors: A-Mei Zhang, Hui Wang, Peng Sun, Qiu-Xiang Hu, Yuqing He, Yong-Gang Yao
Journal: Mol Vis (2013)
MeSH terms: Amyloidosis, Familial / genetics, Asian People / genetics, Ethnicity / genetics, Genetic Association Studies, Mutation / genetics, Prealbumin / genetics, Vitreous Body / pathology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Amino Acid Sequence, Amino Acid Substitution / genetics, Base Sequence, China, DNA, Mitochondrial / genetics, Exons / genetics, Family, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree, Phenotype, Prealbumin / chemistry, Structural Homology, Protein, DNA, Mitochondrial, Prealbumin

Purpose:
Hereditary vitreous amyloidosis (HVA) is a genetic ophthalmological disorder. The purpose of this study was to investigate whether a mutation in the transthyretin (TTR) gene is associated with HVA in Han Chinese families.
Methods:
We performed clinical evaluation of three Han Chinese families with HVA and sequenced the entire exon of the TTR gene in probands and normal individuals from the families. The identified mutation was further genotyped in 196 unrelated healthy controls. Evolutionary conservation analysis and structural prediction were used to infer the potential pathogenicity of the mutation.
Results:
Clinical penetrance of HVA varied in the three families (11/30 in Family A, 8/83 in Family B, and 7/47 in Family C). A comprehensive medical examination of the patients showed no signs of abnormality except ophthalmologic symptoms, in which floccular turbidity and high echo in both vitreous bodies were observed in all probands. Further histochemical examination of the vitrectomy specimen with Congo red staining identified amyloid deposits. A heterozygous mutation c.307G>C (p.G83R) in exon 3 of the TTR gene was identified in all patients, but not in some unaffected family members. Screening of 196 unrelated normal controls revealed no presence of this mutation. This mutation changed the highly conserved glycine to arginine in the 83(rd) position and altered the tertiary structure of the TTR protein.
Conclusions:
Mutation p.G83R in the TTR protein is associated with HVA in Chinese families. The seemingly specific distribution of this mutation in Han Chinese may be used for clinical diagnosis.
Development of bullous pemphigoid during treatment of psoriasis with ustekinumab: a case report and literature review
Authors: Luyang Kong, Dawei Huang, Jiajing Lu, Yuexin Zhang, Ying Li, Xuemei Yi, Yuling Shi
Journal: Front Med (Lausanne) (2023)
Keywords: bullous pemphigoid, case report, psoriasis, treatment, ustekinumab
MeSH terms: Case Reports

Ustekinumab is a biological therapy that has been approved for treating moderate-to-severe psoriasis. Although injection site reactions, nasopharyngitis, headaches, and infections are the common adverse events associated with ustekinumab, the development of bullous pemphigoid (BP) is also thought to be related to ustekinumab. Given that psoriasis itself can be complicated by BP, it is worthwhile to investigate the relationship between ustekinumab, psoriasis, and BP. Here we report a case of a male patient who developed BP twice after psoriasis treatment with ustekinumab. The patient's psoriasis and BP were brought under control by discontinuing ustekinumab and administering methotrexate, minocycline, and topical corticosteroids. Because of the increasing use of biologics in patients with psoriasis, BP should be considered a potential adverse event associated with ustekinumab.
Successful Treatment of Plasma Cell-Rich Acute Rejection Using Pulse Steroid Therapy Alone: A Case Report
Authors: Yo Komatsuzaki, Yasuyuki Nakada, Izumi Yamamoto, Mayuko Kawabe, Takafumi Yamakawa, Ai Katsuma, Haruki Katsumata, Aki Mafune, Akimitsu Kobayashi, Yusuke Koike, Hiroki Yamada, Jun Miki, Yudo Tanno, Ichiro Ohkido, Nobuo Tsuboi, Keitaro Yokoyama, Hiroyasu Yamamoto, Takashi Yokoo
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Despite the recent development of immunosuppressive agents, plasma cell-rich acute rejection (PCAR) has remained refractory to treatment. Herein, we report an unusual case of PCAR that responded well to pulse steroid therapy alone. A 47-year-old man was admitted for a protocol biopsy three months after kidney transplantation, with a stable serum creatinine level of 1.6 mg/dL. Histological examination showed focal aggressive tubulointerstitial inflammatory cell infiltration of predominantly polyclonal mature plasma cells, leading to our diagnosis of PCAR. Three months following three consecutive days of high-dose methylprednisolone (mPSL) therapy, an allograft biopsy performed for therapy evaluation showed persistent PCAR. We readministered mPSL therapy and successfully resolved the PCAR. Although PCAR generally develops more than six months after transplantation, we diagnosed this case early, at three months after transplantation, with focally infiltrated PCAR. This case demonstrates the importance of early diagnosis and prompt treatment of PCAR to manage the development and severity of allograft rejection.
Contact dermatitis of the lips due to late-type sensitization against dalbergiones in a wooden recorder
Authors: C Pföhler, W Tilgen
Journal: Allergol Select (2018)
Keywords: (s)-4-methoxydalbergione, (s)-4’-hydroxy-4-metho- xydalbergione, contact dermatitis, dalbergiones, recorder
MeSH terms: Case Reports

Background:
Late-type sensitizations against wood are rare and are mostly seen in patients with occupational contact with saw dust. Generally, commercial wooden products only lead to sensitization or dermatitis in cases when contact to the unprotected skin is direct, intensive and of longer duration, i.e. by wearing wooden jewelry or by playing wooden instruments. Causative for the sensitization process are ingredients of the wood core such as alkaloids, glycosides, anthrachinones, saponines, phenols, catechols, flavonoids, cumarins, and benzo-, naphtho-, furano-, and phenanthrenquinones and their precursors.
Case report:
We report the case of a 70-year-old patient who developed cheilitis after playing different wooden recorders made of African blackwood, rosewood, cedar, olive, and pear.
Methods:
Patch testing with baseline series of contact allergens and saw dust of the recorders were performed as well as skin prick tests with common inhalant allergens and saw dust of the recorders.
Results:
Patch testing showed sensitizations against African blackwood, rosewood, fragrance mix 2 and hydroxyisohexyl-3-cyclohexene carboxaldehyde. Skin prick testing was without pathological results.
Conclusion:
African blackwood and rosewood contain (S)-4'-hydroxy-4-methoxydalbergione and (S)-4-methoxydalbergione. As a result of the chemical affinity between the dalbergiones, cross-reactions between different woods are observed. The case presented shall show the diagnostic procedure in cases in which sensitizations against wood components are suspected.
Pseudothrombocytopenia due to Platelet Clumping: A Case Report and Brief Review of the Literature
Authors: Geok Chin Tan, Melissa Stalling, Gretchen Dennis, Maria Nunez, Samir B Kahwash
Journal: Case Rep Hematol (2016)

Platelet clumping is a common laboratory phenomenon that complicates or precludes reporting of platelet count. It is often, but not always, a phenomenon commonly caused by the anticoagulant EDTA. Herein, we discuss a case of a 14-year-old girl who was found to have platelet clumping and discuss the work-up she underwent to investigate her pseudothrombocytopenia.
A case report on mixed pulmonary infection of Nocardia nova, Mycobacterium tuberculosis, and Aspergillus fumigatus based on metagenomic next-generation sequencing
Authors: Haiming Yan, Zhandong Li, Han Xia, Qixin Li, Honglian Bai
Journal: Front Public Health (2022)
Keywords: nocardia nova, metagenomic next-generation sequencing (mngs), mixed infection, pathogen diagnosis, pulmonary infection
MeSH terms: Coinfection / diagnosis, Mycobacterium tuberculosis / genetics, Pneumonia, Case Reports, Research Support, Non-U.S. Gov't, Aspergillus fumigatus / genetics, Glucocorticoids, High-Throughput Nucleotide Sequencing / methods, Humans, Lung, Nocardia, Glucocorticoids, Nocardia nova

Background:
Pulmonary infection is one of the common complications of long-term use of glucocorticoids. Severe infections not only increase the length of hospital stay and treatment costs but also cause progression or recurrence of the primary disease.
Case description:
Herein, we reported a case of mixed pulmonary infection secondary to glucocorticoid use. Rare pathogens such as Nocardia nova, Mycobacterium tuberculosis, Aspergillus fumigatus, and cytomegalovirus were detected by metagenomic next-generation sequencing (mNGS) of bronchoalveolar lavage fluid and lung puncture tissue. Combining the results of conventional pathogen detection and clinical symptoms, the patient was diagnosed with mixed pulmonary infection by multiple pathogens. After timely targeted medication, the patient was finally discharged with a good prognosis.
Conclusion:
To our knowledge, this is the first case report on mixed pulmonary infection with pathogens including Nocardia nova, Mycobacterium tuberculosis, Aspergillus fumigatus, and human cytomegalovirus. As a new clinical diagnostic method, mNGS has great advantages in diagnosis of diseases such as mixed infections.
Case report: Robot-assisted laparoscopic partial nephrectomy for renal cell carcinoma in a patient with situs inversus totalis and abdominal cocoon
Authors: Yuhua Zou, Xiaojuan Xie, Cunzhi Zhong, Li Liu, Qinlin Wang, Sheng Yan, Xiaofeng Zou, Quanliang Liu
Journal: Front Surg (2023)
Keywords: abdominal cocoon, case report, partial nephrectomy, renal cell carcinoma, robot-assisted laparoscopic, situs inversus totalis
MeSH terms: Case Reports

Background:
Situs inversus totalis (SIT) is a congenital condition wherein organs in abdominal or thoracic cavity are mirrored from their normal positions. Abdominal cocoon, is a rare disease of unknown aetiology that is characterised by total or partial small intestine encapsulation by a compact fibrocollagenous membrane. Aside from having two extremely rare conditions (SIT and Abdominal cocoon), our patient developed renal cell carcinoma (RCC), which makes this case even more uncommon.
Case presentation:
We report the case of a 64-year-old man who was admitted to our hospital with an extremely rare case of localized RCC in the left kidney complicated with SIT and abdominal cocoon. Computer tomography urography (CTU) and angiography (CTA) showed that the patient was confirmed as having SIT, for the space-occupying lesion in the left kidney, clear cell RCC (ccRCC) was considered, the lesion in the right kidney was probably cystic. We diagnosed our patient as having a cT1aN0M0 left RCC, and the RENAL score was 7x. With partial nephrectomy (PN) being the preferred treatment approach, robot-assisted laparoscopic partial nephrectomy (RALPN) was performed after obtaining informed consent. After insertion of the laparoscope, adhesions were observed between the entire colon and the anterior abdominal wall. Then, abdominal cocoon was diagnosed. The surgery was uneventful, and the tumour was resected successfully while preserving the tumour capsule. No intestinal injury or any other complication occurred in the intraoperative or postoperative, and the patient recovered well after the operation.
Conclusion:
PN is an extremely challenging procedure in patients with SIT and abdominal cocoon. The da Vinci Xi surgical system and thorough preoperative assessment allowed the surgeon to overcome stereotyping, visual inversion, and successfully perform PN in a patient with SIT and abdominal cocoon without increasing the risk of complications and preserving as much renal function as possible. Considering the satisfactory outcomes, this report may hopefully provide a practical reference for the treatment of RCC in patients with other special conditions.