OpenMed/multicare-articles huggingface dataset:
An Unusual Case of Metastatic Basal Cell Carcinoma of the Prostate: A Case Report and Literature Review
Authors: Shiqiang Dong, Qing Liu, Zihan Xu, Haitao Wang
Journal: Front Oncol (2020)
Keywords: basal cell carcinoma, case report, metastasis, prostate, therapy
MeSH terms: Case Reports

Background: Primary basal cell carcinoma (BCC) is a rare prostate cancer. Currently, a standard treatment regime for BCC of the prostate is lacking and most patients have a poor prognosis. We reported on a patient with BCC of the prostate whose cancer metastasized after undergoing a radical prostatectomy and whose prognosis improved after treatment with etoposide. Case Presentation: A 62-year-old male with a history of seminoma was admitted complaining of intermittent gross hematuria for 1 month. Following a prostate biopsy, the patient was diagnosed with BCC of the prostate and received radical prostatectomy and radiotherapy. Initially, the patient's symptoms improved; however, 2 years later, a chest computed tomography (CT) scan revealed lung nodules. The patient did not exhibit any symptoms of BCC of the prostate; however, pathological examination and immunohistochemical staining of the nodules confirmed metastatic BCC of the prostate. Chemotherapy with docetaxel and cisplatin was well-tolerated but did not slow disease progression. Next-generation sequencing revealed mutations in the ataxia telangiectasia-mutated (ATM), SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily b-member 1 (SMARCB1), and phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) genes. The patient did not receive targeted therapy owing to financial limitations and instead, etoposide was administered. A 9-month follow-up chest CT scan showed an 80% reduction in existing lung nodules and no new nodules had developed. Conclusion: Our patient, diagnosed with recurrent prostate BCC after receiving a radical prostatectomy, responded to treatment with etoposide. Radical prostatectomy and radiotherapy should remain first-line therapy; however, etoposide may be an alternative second-line therapy when other options are not available. Consensus regarding treatment plans, and the molecular mechanisms behind prostate BBC, must be elucidated.
Cutaneous infection by Mycobacterium haemophilum and kansasii in an IgA-deficient man
Authors: Vassiliki Bekou, Amanda Büchau, Michael J Flaig, Thomas Ruzicka, Michael Hogardt
Journal: BMC Dermatol (2011)
MeSH terms: IgA Deficiency / complications, Mycobacterium Infections / complications, Mycobacterium Infections, Nontuberculous / complications, Mycobacterium haemophilum / isolation & purification, Mycobacterium kansasii / isolation & purification, Skin Diseases, Bacterial / complications, Case Reports, Anti-Bacterial Agents / therapeutic use, Biopsy, Clarithromycin / administration & dosage, Clarithromycin / therapeutic use, Drug Therapy, Combination, Ethambutol / administration & dosage, Ethambutol / therapeutic use, Humans, Immunocompromised Host, Male, Middle Aged, Mycobacterium Infections / immunology, Mycobacterium Infections / microbiology, Mycobacterium Infections / pathology, Mycobacterium Infections, Nontuberculous / drug therapy, Mycobacterium Infections, Nontuberculous / immunology, Mycobacterium Infections, Nontuberculous / microbiology, Mycobacterium Infections, Nontuberculous / pathology, Mycobacterium haemophilum / growth & development, Mycobacterium kansasii / growth & development, Rifabutin / administration & dosage, Rifabutin / therapeutic use, Skin Diseases, Bacterial / drug therapy, Skin Diseases, Bacterial / immunology, Skin Diseases, Bacterial / microbiology, Skin Diseases, Bacterial / pathology, Anti-Bacterial Agents, Rifabutin, Ethambutol, Clarithromycin

Background:
The prevalence of infections by nontuberculous mycobacteria (NTM) has steadily increased over the past decades, especially in immunocompromised patients.
Case presentation:
We present a patient with IgA-deficiency and mixed cutaneous infection by two slowly growing mycobacteria, Mycobacterium (M.) haemophilum and M. kansasii.
Conclusions:
Cutaneous M. haemophilum infections most often result from HIV or transplantation-associated immunosuppression. Rarely, M. haemophilum may also infect healthy patients or iatrogenically immunosuppressed patients without transplantation. M. kansasii is one of the most frequent NTM and large awareness exists about its involvement in human diseases. Mycobacterial diagnosis of cutaneous infections should be considered in long-lasting skin lesions.
A Rare Case of Multivessel SCAD Successfully Treated with Conservative Medical Management
Authors: Lance Alquran, Ankita Patel, Lucy Safi, Ankitkumar Patel
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

A female patient presented with severe, symptomatic multivessel spontaneous coronary artery dissection (SCAD) with no known medical history or risk factors. The affected vessels were left anterior descending artery (LAD), right coronary artery (RCA), and the ramus. She was treated with conservative medical management. Two months later, repeat coronary angiogram to evaluate for any residual disease was performed which showed near-complete resolution of all involved vessels.
Pregnancy after uterine artery embolization: a case report in a woman with leiomyomata
Authors: Helena Isabel Lopes, Maria Isabel Sá, Rosa Maria Rodrigues
Journal: Case Rep Obstet Gynecol (2015)

Background. Several pregnancies have been reported after embolization of uterine artery. This procedure is an accepted nonsurgical treatment for symptomatic uterine fibroids but its safety in women desiring future childbearing is not well established. Case Report. We present a 40-year-old woman with leiomyomata who became pregnant after previously undergone uterine artery embolization for three times. The placenta was previa and the fetus was in transverse position. She had a cesarean delivery of an appropriately grown fetus at 37 weeks, which was followed by uterine atony requiring hysterectomy. Conclusion. Although pregnancy-related outcomes remain understudied, the available reports evidence that pregnancies after uterine artery embolization may be at significantly increased risk for postpartum hemorrhage, cesarean delivery, abnormal placentation, and malpresentation. In patients who are undergoing this type of treatment and contemplating pregnancy, the possibility of adverse complications should be taken in consideration and women should be appropriately advised.
Ameloblastic fibro-odontoma: a diagnostic challenge
Authors: Elen de Souza Tolentino, Bruna Stuchi Centurion, Marta Cunha Lima, Patrícia Freitas-Faria, Alberto Consolaro, Eduardo Sant'ana
Journal: Int J Dent (2010)
MeSH terms: Case Reports

An 11-year-old girl presented to our department to have a second opinion regarding a lesion involving her left mandible. She had previously undergone several radiographic exams including panoramic, helical, and cone-beam computed tomography. Radiographic examinations revealed a well-defined radiolucent region, which contained an irregular radiopaque mass of 3 cm in diameter, localized to the left angle of the mandible. Our presumptive diagnosis was complex odontoma. Excisional biopsy was performed, and microscopic features showed strands and islands of odontogenic epithelium showing peripheral palisading and loosely arranged central cells, identical to stellate reticulum, embedded in a myxoid cell-rich stroma resembling the dental papilla. Dentin and enamel were also presented. The diagnosis was ameloblastic fibro-odontoma, which is a rare mixed odontogenic tumor, derived from epithelial and ectomesenchymal elements that form the dental tissues.
Familial Idiopathic Intracranial Hypertension in Two Non-obese Chinese Sisters
Authors: Lei Qiao, Yanping Wei
Journal: Front Neurol (2020)
Keywords: diagnosis, familial idiopathic intracranial hypertension, headache, idiopathic intracranial hypertension, papilledema
MeSH terms: Case Reports

Background: Familial idiopathic intracranial hypertension (FIIH) is a rare condition, the etiology of which is unclear. Aims: To describe two non-obese Chinese sisters who met the criteria of FIIH and to analyze the clinical features and prognosis of FIIH. Methods: The clinical course, treatment, and prognosis of these two patients were analyzed retrospectively. Meanwhile, all the literature of familial IIH (FIIH) was reviewed. Results: These two sisters presented with headaches and visual impairment in their mid-thirties. Magnetic resonance imaging (MRI) of the brain was unremarkable except for partial empty sella. No comorbidities or defined causes were detected. Headaches were partially relieved by dehydrated medicine, whereas the visual impairment persisted. Conclusion: In cases where patients present with headaches, empty sella are found on an MRI, and there is visual impairment with or without papilla edema, intracranial hypertension should be excluded. Furthermore, we should pay more attention to the relatives of those patients with increased intracranial hypertension.
Rhizomucor and scedosporium infection post hematopoietic stem-cell transplant
Authors: Dânia Sofia Marques, Carlos Pinho Vaz, Rosa Branca, Fernando Campilho, Catarina Lamelas, Luis Pedro Afonso, Manuel Jacome, Eduardo Breda, Eurico Monteiro, António Campos Júnior
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Hematopoietic stem-cell transplant recipients are at increased risk of developing invasive fungal infections. This is a major cause of morbidity and mortality. We report a case of a 17-year-old male patient diagnosed with severe idiopathic acquired aplastic anemia who developed fungal pneumonitis due to Rhizomucor sp. and rhinoencephalitis due to Scedosporium apiospermum 6 and 8 months after undergoing allogeneic hematopoietic stem-cell transplant from an HLA-matched unrelated donor. Discussion highlights risk factors for invasive fungal infections (i.e., mucormycosis and scedosporiosis), its clinical features, and the factors that must be taken into account to successfully treat them (early diagnosis, correction of predisposing factors, aggressive surgical debridement, and antifungal and adjunctive therapies).
Case Report: Simultaneously diagnosed gastric adenocarcinoma and pernicious anemia - a classic association
Authors: Syed Kamran, Mattias K Dilling, Nathaniel A Parker, Joel Alderson, Nathan D Tofteland, Quoc V Truong
Journal: F1000Res (2020)
Keywords: autoimmune gastritis, gastric adenocarcinoma, parietal cells, pernicious anemia, stomach cancer
MeSH terms: Adenocarcinoma / diagnosis, Anemia, Pernicious / complications, Anemia, Pernicious / diagnosis, Stomach Neoplasms / diagnosis, Case Reports, Autoantibodies, Humans, Intrinsic Factor, Autoantibodies, Intrinsic Factor

Primary gastric cancer remains one of the most prevalent malignancies worldwide. Often patients remain asymptomatic until it is detected at an advanced stage with a poor prognosis. Thus, it's characteristically difficult to initially diagnose until it becomes late stage, at which point prognosis becomes poor. Pernicious anemia is a classic risk factor for the development of primary gastric cancer, but is uncommonly seen in clinical practice. Over time, patients who produce the autoantibodies to intrinsic factor that cause pernicious anemia typically will present initially with clinically significant megaloblastic anemia and peripheral neuropathy. However, patients can also present with more nonspecific signs and symptoms. Thus, clinicians should remain vigilant as circulating anti-intrinsic factor antibodies only worsen the disease over time and increase the risk of developing primary gastric cancer. This report not only presents the rare concurrent diagnosis of pernicious anemia and gastric cancer, but also aims to increase clinical awareness of these two conditions' classic association because early diagnosis and treatment significantly impacts morbidity and mortality.
Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair
Authors: Qingming Wang, Shuangxi Cheng, Youqing Fu, Haiming Yuan
Journal: Front Genet (2022)
Keywords: noonan syndrome-like with loose anagen hair (ns/lah), shoc2, growth hormone (gh), growth hormone deficiency (ghd), short stature
MeSH terms: Case Reports

Pathogenic variants in the RASopathy-causing SHOC2 gene have been suggested to cause Noonan syndrome-like with loose anagen hair (NS/LAH). This condition is characterized by facial features resembling Noonan syndrome (NS), short stature, growth hormone deficiency (GHD), cognitive deficits, cardiac defects, and ectodermal abnormalities, including easily pluckable, sparse, thin, slow-growing hair, hyperpigmented skin and hypernasal voice. The mutation spectrum of SHOC2 is narrow, and only 8 pathogenic variants have been identified. Here, we report a 5-year-3-month-old Chinese female who displays characteristics typical of NS and has normal neurodevelopment. Trio-based whole-exome sequencing (WES) revealed a de novo variant (c.1231A>G, p.Thr411Ala) in SHOC2. This variant has been recently reported in one subject in the literature who displayed facial features typical of NS and also presented with significant speech delays, moderate intellectual disabilities, epilepsy, bilateral sensorineural deafness and renal dysplasia. The differential phenotypes between these subjects deserve to be further investigated. Next, we reviewed the clinical pictures of NS/LAH and noticed that a recurrent SHOC2 Ser2Gly variant was more likely to result in delayed neurodevelopment and short stature, compared to other SHOC2 variants. And growth hormone (GH) therapy could improve height prognosis. It was noticed that the slight sleep problems and friendly and relatively mature personality observed in our patient may be a novel phenotype of NS/LAH. Our study reconfirms the pathogenic nature of the SHOC2 Thr411Ala variant. It also provides insights into the genotype-phenotype relationship in NS/LAH and a foundation for its genetic counseling, diagnosis and treatment.
A Case Presentation of a Patient with Microsatellite Instability and BRAF Mutant Metastatic Colon Cancer and Bibliography Update
Authors: K Thomopoulou, M Tzardi, D Mavroudis, I Souglakos
Journal: Case Rep Oncol Med (2019)
MeSH terms: Bibliography, Case Reports

This is a case of a patient who presented to the emergency department with acute abdominal pain due to bowel obstruction. An extended right hemicolectomy with ileosigmoid anastomosis due to an obstructing mass on the splenic flexure was urgently performed. During operation, liver and peritoneal lesions were detected and samples were also sent for histological analysis. Pathology report was consistent with poorly differentiated mucinous adenocarcinoma with signet ring cells; peritoneal lesions were confirmed histologically as metastatic. Genetic testing revealed the BRAFV600E mutation and mismatch repair deficiency (dMMR). After progressing on 1st line chemotherapy, the patient has a continuing and long-lasting partial response to 2nd line treatment with pembrolizumab.
Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About
Authors: Kaihui Zhang, Shu Liu, Wenjun Gu, Yuqiang Lv, Haihua Yu, Min Gao, Dong Wang, Jianyuan Zhao, Xiaoying Li, Zhongtao Gai, Shimin Zhao, Yi Liu, Yiyuan Yuan
Journal: Front Genet (2021)
Keywords: prader–willi syndrome, prader–willi-like syndrome, familial transmission, imprinting center, microdeletion

Prader-Willi syndrome (PWS) is a complex genetic syndrome caused by the loss of function of genes in 15q11-q13 that are subject to regulation by genomic imprinting and expressed from the paternal allele only. The main clinical features of PWS patients are hypotonia during the neonatal and infantile stages, accompanied by delayed neuropsychomotor development, hyperphagia, obesity, hypogonadism, short stature, small hands and feet, mental disabilities, and behavioral problems. However, PWS has a clinical overlap with other disorders, especially those with other gene variations or chromosomal imbalances but sharing part of the similar clinical manifestations with PWS, which are sometimes referred to as Prader-Willi syndrome-like (PWS-like) disorders. Furthermore, it is worth mentioning that significant obesity as a consequence of hyperphagia in PWS usually develops between the ages of 1 and 6 years, which makes early diagnosis difficult. Thus, PWS is often not clinically recognized in infants and, on the other hand, may be wrongly suspected in obese and intellectually disabled patients. Therefore, an accurate investigation is necessary to differentiate classical PWS from PWS-like phenotypes, which is imperative for further treatment. For PWS, it is usually sporadic, and very rare family history and affected siblings have been described. Here, we report the clinical and molecular findings in a three-generation family with a novel 550-kb microdeletion affecting the chromosome 15 imprinting center (IC). Overall, the present study finds that the symptoms of our patient are somewhat different from those of typical PWS cases diagnosed and given treatment in our hospital. The familial occurrence and clinical features were challenging to our diagnostic strategy. The microdeletion included a region within the complex small nuclear ribonucleoprotein polypeptide protein N (SNRPN) gene locus encompassing the PWS IC and was identified by using a variety of techniques. Haplotype studies suggest that the IC microdeletion was vertically transmitted from an unaffected paternal grandmother to an unaffected father and then caused PWS in two sibling grandchildren when the IC microdeletion was inherited paternally. Based on the results of our study, preimplantation genetic diagnosis (PGD) was applied successfully to exclude imprinting deficiency in preimplantation embryos before transfer into the mother's uterus. Our study may be especially instructive regarding accurate diagnosis, differential diagnosis, genetic counseling, and PGD for familial PWS patients.
Multifocal tubercular osteomyelitis: a case with atypical manifestations
Authors: Mukesh Thawani, Elizabeth Hale, Eyassu Habte-Gabr
Journal: Tuberc Res Treat (2011)
MeSH terms: Case Reports

Skeletal tuberculosis (TB) accounts for about 1-2% of all TB cases and 10% of extrapulmonary TB cases. We present a 19-year-old male with multifocal tubercular osteomyelitis, who presented with progressively worsening back pain, weight loss, fatigue, anorexia, decreased mobility, low-grade fever, and night sweats-but without pulmonary involvement.
Ovarian hyperstimulation syndrome, the master of disguise?
Authors: Emily Charlotte Ironside, Andrew James Hotchen
Journal: Case Rep Emerg Med (2015)

The use of IVF has risen dramatically over the past 10 years and with this the complications of such treatments have also risen. One such complication is ovarian hyperstimulation syndrome with which patients can present acutely to hospital with shortness of breath. On admission, a series of blood tests are routinely performed, including the d-dimer. We present a case of a 41-year-old lady who had recently undergone IVF and presented with chest pain and dyspnoea. In the emergency department, a d-dimer returned as mildly elevated. Consequential admission onto MAU initiated several avoidable investigations for venous thromboembolism. Careful examination elicited a mild ascites and a thorough drug history gave recent low molecular weight heparin usage. Ultrasound scan of the abdomen subsequently confirmed the diagnosis of severe OHSS. The d-dimer should therefore be used to negate and not to substantiate a diagnosis of VTE. This case report aims to highlight the importance of OHSS as an uncommon cause of dyspnoea but whose prevalence is likely to increase in the forthcoming years. We discuss the complications of the misdiagnosis of OHSS, the physiology behind raised d-dimers, and the potential harm from incorrect treatment or inappropriate imaging.
Maxillary antrolith: a rare cause of the recurrent sinusitis
Authors: Vijendra Shenoy, Vinod Maller, Vijetha Maller
Journal: Case Rep Otolaryngol (2013)

Introduction. An antrolith is a calcified mass within the maxillary sinus. The origin of the nidus of calcification may be extrinsic (foreign body in sinus) or intrinsic (stagnant mucus and fungal ball). Most antroliths are small and asymptomatic. Larger ones may present as sinusitis with symptoms like pain and discharge. Case Report. We report a case of a 47-year-old lady who presented with heaviness on the left side of the face and loosening of the left 2nd molar tooth since two months. CT scan of the osteomeatal complex and paranasal sinuses showed an opacification of bilateral maxillary sinus and an amorphous area of bone density in the left maxillary sinus. Because of the size of the mass, benign neoplasms were considered in the differential diagnosis. During an endoscopic sinus surgery, it was found to be an antrolith, which was successfully managed by antrostomy and Caldwell-Luc Surgery. Discussion. Antrolith is a rare condition. Rhinoliths are known to invade into the maxillary antrum, but a localised lesion in the antrum is very unusual. A case of an isolated antrolith is presented for its rarity and for differential diagnosis of localised antral disease. Conclusion. Antrolith should be considered as differential diagnosis of unilateral radio-opaque paranasal sinus lesions.
Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results
Authors: Morteza Hemmat, Weina Chen, Arturo Anguiano, Mohammed El Naggar, Frederick K Racke, Dan Jones, Yongbao Wang, Charles M Strom, Karl Chang, Fatih Z Boyar
Journal: Mol Cytogenet (2014)
Keywords: asxl1, ctnna1, copy neutral loss of heterozygosity (cnloh), ezh2, hspa9, mds, runx1, tet2, uniparental disomy (upd)
MeSH terms: Case Reports

Advances in genome-wide molecular cytogenetics allow identification of novel submicroscopic DNA copy number alterations (aCNAs) and copy-neutral loss of heterozygosity (cnLOH) resulting in homozygosity for known gene mutations in myeloid neoplasms. We describe the use of an oligo-SNP array for genomic profiling of aCNA and cnLOH, together with sequence analysis of recurrently mutated genes, in a patient with myelodysplastic syndrome (MDS) presenting with normal karyotype and FISH results. Oligo-SNP array analysis revealed a hemizygous deletion of 896 kb at chromosome 5q31.2, representing the smallest 5q deletion reported to date. The deletion involved multiple genes, including two tumor suppressor candidate genes (CTNNA1 and HSPA9) that are associated with MDS/AML. The SNP-array study also detected 3 segments of somatic cnLOH: one involved the entire long arm of chromosome 4; the second involved the distal half of the long arm of chromosome 7, and the third encompassed the entire chromosome 22 (UPD 22). Sequence analysis revealed mutations in TET2 (4q), EZH2 (7q), ASXL1 (20q11.21), and RUNX1 (21q22.3). Coincidently, TET2 and EZH2 were located at segments of cnLOH resulting in their homozygosity. Loss of heterozygosity affecting these two chromosomes and mutations in TET2 and EZH2 are indicative of a myelodysplastic syndrome with a poor prognosis. Deletion of the tumor suppressor genes CTNNA1 and HSPA9 is also likely to contribute to a poor prognosis. Furthermore, the original cnLOHs in multiple chromosomes and additional cnLOH 14q in the follow-up study suggest genetic evolution of the disease and poor prognosis. This study attests to the fact that some patients with a myelodysplastic syndrome who exhibit a normal karyotype may have underlying genetic abnormalities detectable by chromosomal microarray and/or targeted mutation analyses.