OpenMed/multicare-articles huggingface dataset:
Wide Anterior Maxillary Reconstruction with Equine Bone Xenograft: A Case Report of 24-Month Follow-Up
Authors: Davide De Cicco, Giuseppe Colella, Gianpaolo Tartaro, Nicola Zerbinati, Romolo Fragola, Raffaele Rauso
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction. Orofacial reconstruction plays an important role in the treatment of patients affected by oral and maxillofacial cancers. Improvements in technologies and studies of biomaterials have widely expanded surgical possibilities to achieve good functional and aesthetic outcomes. By the way, xenografting procedures gained great consensus in the last decades, because of their documented reliability and efficacy. We present a case of anterior maxillary chondrosarcoma (CHS) that has undergone surgical ablation followed by reconstruction with an equine-derived bone xenograft. Case Presentation. A 68-year-old woman affected by CHS of the premaxilla underwent surgical ablation involving the four incisors followed by reconstruction using an equine-derived bone substitute. Bony reconstruction was planned to achieve implant and dental prosthetic rehabilitation at a second surgical time. Primary surgery was carried out without complications. Good integration of the graft was confirmed by radiological examination. At 12-month follow-up, the patient refused the implant placement and spontaneously adopted a mobile prosthesis. One year later, plates and screws were removed, because of the exposure of a titanium plate. The graft was finally rejected within 3 weeks. Discussion. Nonantigenic equine-derived biomaterials have shown reliability and a good safety profile. In the presented case, implant insertion should have been performed 12 months after the primary surgery. During the follow-up, until dental mobile prosthesis was applied, clinical and instrumental examinations demonstrated a good integration of the graft. We suppose that a chronic inflammation of the mucosa led to the exposure of the plate, perhaps due to pressure, minimal movements, or imperfect fitting of the mobile prosthesis. Removal of fixation means was performed to prevent grafting failure, without success. On the other hand, missing load could induce the graft to act just like a prosthesis, without a real process of integration. Safety and reliability of equine-derived bone xenografts cannot be currently confirmed if not followed by implant insertion and dental rehabilitation.
A Rare Presentation of Colorectal Cancer with Unusual Progressive Intramuscular and Subcutaneous Metastatic Spread
Authors: Reyhaneh Manafi-Farid, Narjess Ayati, Mohammad Eftekhari, Babak Fallahi, Fardad Masoumi
Journal: Asia Ocean J Nucl Med Biol (2019)
Keywords: 18f-fluorodeoxyglucose pet/ct, colorectal carcinoma, muscle metastasis, rare metastasis
MeSH terms: Case Reports

Colorectal carcinoma is one of the most common causes of cancer-related death, worldwide. Recently, due to the introduction of novel imaging and therapeutic techniques, five-year survival of patients has increased. However, distant metastasis is still expected in half of the patients. Colorectal cancer tends to target the abdominal cavity, liver, lungs, and bones as the common sites of metastasis. Nevertheless, rare cases of muscle metastasis have been reported. This report presents a 23-year-old male, who despite chemotherapy, demonstrated gradual progressive disease and metastases to the submandibular region, lungs, adrenal gland as well as muscles and subcutaneous tissues. He had developed multiple asymptomatic muscular metastases metachronously over two-year time period discovered on an 18FDG-PET/CT, namely in the deltoid, external oblique abdominis, rectus abdominis, and quadriceps muscles, as well as one of the extrinsic muscles of the tongue. The presence of distant, especially extrahepatic metastasis, adversely affects the prognosis of colon carcinoma. Since limited cases of muscle metastasis have been reported in carcinoma of colon, the underlying pathophysiology, optimum treatment, and prognostic issues are yet to be substantiated.
Successful treatment of a stage IIIC small-cell carcinoma of the ovary hypercalcemic subtype using multi-modality therapeutic approach
Authors: Qian Qin, Veronica B Ajewole, Tiffany G Sheu, Rachel Donohue, Monisha Singh
Journal: Ecancermedicalscience (2018)
Keywords: sccoht, advance stage, small cell carcinoma of the ovary hypercalcemic subtype, therapy
MeSH terms: Case Reports

Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare but highly undifferentiated, aggressive malignancy that primarily affects young women. Due to its early onset, unclear familial history and vague presenting symptoms, most SCCOHT patients present late with advanced disease. The prognosis is extremely poor, with <10% disease-free survival for advanced stages. Although several therapeutic regimens have been proposed, to date there is no consensus on the optimal strategy. Here, we describe a successful case of advanced-stage SCCOHT of the left ovary treated with cytoreductive surgery, semi-intense chemotherapy, high-dose consolidative chemotherapy, autologous hematopoietic stem cell transplantation and pelvic radiation with long-term survival. Given the almost universal mortality of advanced SCCOHT in long-term follow-up, we believe this case highlights the importance of prompt diagnosis when a young patient presents with abdominal swelling and hypercalcemia as well as early, aggressive, combined modality treatment. This case is also especially remarkable given the patient underwent fertility preservation surgery, which is not recommended by most of the current literature. However, as therapies improve and more young patients may survive SCCOHT, the question of fertility will increase in relevance. We believe the pros and cons of conservation should be discussed in detail with the patient.
Idiopathic Myointimal Hyperplasia of Mesenteric Veins of the Ileum and Colon in a Patient with Crohn's Disease: A Case Report and Brief Review of the Literature
Authors: Sharon J Song, Stuti G Shroff
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Idiopathic myointimal hyperplasia of the mesenteric veins (IMHMV) is a rare disease characterized by intimal smooth muscle proliferation, leading to the thickening of small to medium-sized mesenteric veins. This vascular disease mimics inflammatory bowel disease (IBD) clinically and endoscopically, while showing ischemic mucosal changes without the classic features of IBD on biopsy. Given the mixed picture, this entity is frequently misdiagnosed. Surgical resection of the diseased bowel segment reveals the true etiology of the pathology and is curative. We describe a case of a 59-year-old man with a long-standing history of Crohn's disease refractory to medical therapy and status after multiple small bowel resections. The patient underwent a subtotal abdominal colectomy with pathology showing dense, indurated mesenteric adipose tissue, significant muscularis propria hypertrophy, and myointimal hyperplasia of the mesenteric veins in a peri-ileal and pericolic distribution, as confirmed by elastin stain. No evidence of mucosal ischemic changes or findings of chronicity or acuity were seen. IMHMV, a rare disease with a mixed presentation, poses a significant diagnostic challenge to clinicians and pathologists.
Two Cases of Hemophagocytic Lymphohistiocytosis Associated with Disseminated Histoplasmosis Presented with Transient Pancytopenia
Authors: Novi Apriany, Usi Sukorini, Tri Ratnaningsih, Rizka Humardewayanti Asdie, Yanri Wijayanti Subronto, Susanna Hilda Hutajulu, Ibnu Purwanto, Mardiah Suci Hardianti
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Transient pancytopenia due to reactive bone marrow suppression often occurs in hemophagocytic lymphohistiocytosis (HLH), a syndrome resulting from excessive immune activation following a severe infection. We reported two cases with pancytopenia and disseminated histoplasmosis accompanied by HLH, initially suspected to be blood malignancies. Our first case documented the relevance between the improvement of pancytopenia and the clearance of Histoplasma capsulatum in serial bone marrow aspirations. The second case showed immense Histoplasma engulfment by the macrophage in relation to a severe clinical condition, followed by improvement of clinical symptoms in accordance with the recovery of pancytopenia. These two cases highlighted the importance of comprehensive and critical analysis for cases with concurrent pancytopenia and severe infection, since it may be that the pancytopenia underlies the severe infection or vice versa.
Renal pseudoaneurysm formation post allograft biopsy: a case report
Authors: Samir G Mallat, Rima Abou Arkoub, Bassam El Achkar, Charbel Saade, Fadi El-Merhi
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Renal pseudoaneurysm (PSA) is a rare complication post kidney transplant biopsy that accounts for less than 1% of allograft dysfunction. Imaging guidelines in the diagnosis of renal PSA have not yet been developed owing to the low occurrence and limited data availability. However, contrast-enhanced CT and magnetic resonance angiography (MRA) are the preferred modalities in detecting PSA owing to the high contrast and spatial resolution. However, magnetic resonance angiography is preferred since non-contrast imaging techniques can see blood flow patterns in renal PSA without the use of contrast media that may alter renal function. We present a rare complication in a 48-year-old male receiving a living related kidney transplant and found to have renal PSA post allograft biopsy. We review the clinical features, imaging and treatment outcome with the developed PSA in the transplanted kidney post allograft biopsy.
The integrative method "suture dragging and simplified vacuum assisted therapy" for complex pilonidal sinus disease
Authors: Chen Wang, Yibo Yao, Yongqing Cao
Journal: Case Rep Surg (2014)

Complex and recurrent pilonidal sinuses are best treated with surgery. Different surgical modalities as complete excision of the pilonidal sinus leave the wound open or procedures like closing the wound with or without reconstructive flap are widely used. The open procedure is radical but may cause broad excision and prolonged morbidity, while risk of infection and rate of recurrence are higher in the closed techniques. Traditional Chinese surgical treatments are less invasive and more effective; they have been used to treat sinus and fistula disease successfully. In this case report, we have described a male adolescent with complex pilonidal sinus, who received traditional Chinese surgical treatment combined with modern wound healing technique. He recovered completely with short hospitalization, good tolerance, less pain, and scarring. Therefore, we recommend using this integrative method to treat complex pilonidal sinus disease.
Case report: Enamel renal syndrome: a case series from sub-Saharan Africa
Authors: I A Roomaney, S Kabbashi, K Beshtawi, S Moosa, M Y Chothia, M Chetty
Journal: Front Oral Health (2023)
Keywords: craniofacial manifestations, enamel renal syndrome, fam20a, nephrocalcinosis, rare disease africa
MeSH terms: Case Reports

Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal calcifications, gingival enlargement and occasionally nephrocalcinosis. In this case series, we report on four unrelated patients with a confirmed molecular diagnosis of ERS (FAM20A pathogenic variants) from Sub-Saharan Africa. The pathognomonic oral profile of ERS was mostly fulfilled in these patients, with the notable addition of an odontoma in one patient. The cases presented a spectrum of phenotypic severity both dentally and systemically. One patient presented with nephrocalcinosis and abnormal kidney function, one had reduced kidney size with normal kidney function, and two had no renal abnormalities. Patients presenting with the oral profile of ERS should receive a prompt referral to a nephrologist and a geneticist. They should receive long-term management from a multidisciplinary medical and dental team.
Amyotrophic lateral sclerosis and multiple sclerosis overlap: a case report
Authors: Francesca Trojsi, Anna Sagnelli, Giovanni Cirillo, Giovanni Piccirillo, Cinzia Femiano, Francesco Izzo, Maria Rosaria Monsurrò, Gioacchino Tedeschi
Journal: Case Rep Med (2012)

The concurrence of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) is extremely rare. We reported the case of a 33-year-old woman with a past history of paresthesias at the right hand, who developed progressive quadriparesis with muscular atrophy of limbs and, finally, bulbar signs and dyspnea. Clinical and neurophysiologic investigations revealed upper and lower motor neuron signs in the bulbar region and extremities, suggesting the diagnosis of ALS. Moreover, magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis demonstrated 3 periventricular and juxtacortical lesions, hyperintense in T2 and FLAIR sequences, and 3 liquoral immunoglobulin G (IgG) oligoclonal bands, consistent with diagnosis of primary progressive MS (PPMS). This unusual overlap of ALS and MS leads to the discussion of a hypothetical common pathological process of immunological dysfunction in these two disorders, although the role of immune response in ALS remains ambivalent and unclear.
Case Report: Prolonged Survival Following EGFRvIII CAR T Cell Treatment for Recurrent Glioblastoma
Authors: Joseph S Durgin, Fraser Henderson Jr, MacLean P Nasrallah, Suyash Mohan, Sumei Wang, Simon F Lacey, Jan Joseph Melenhorst, Arati S Desai, John Y K Lee, Marcela V Maus, Carl H June, Steven Brem, Roddy S O'Connor, Zev Binder, Donald M O'Rourke
Journal: Front Oncol (2021)
Keywords: car (chimeric antigen receptor), car t cell therapy, egfrviii, glioblastoma, perfusion imaging, recurrent glioblastoma (rgbm)
MeSH terms: Case Reports

Autologous chimeric antigen receptor (CAR) T cells targeted to epidermal growth factor receptor variant III (CAR T-EGFRvIII) have been developed and administered experimentally to treat patients with IDH1 wildtype recurrent glioblastoma (rGBM) (NCT02209376). We report the case of a 59-year-old patient who received a single peripheral infusion of CAR T-EGFRvIII cells and survived 36 months after disease recurrence, exceeding expected survival for recurrent glioblastoma. Post-infusion histopathologic analysis of tissue obtained during a second stage surgical resection revealed immunosuppressive adaptive changes in the tumor tissue as well as reduced EGFRvIII expression. Serial brain imaging demonstrated a significant reduction in relative cerebral blood volume (rCBV), a measure strongly associated with tumor proliferative activity, at early time points following CAR T treatment. Notably, CAR T-EGFRvIII cells persisted in her peripheral circulation during 29 months of follow-up, the longest period of CAR T persistence reported in GBM trials to date. These findings in a long-term survivor show that peripherally administered CAR T-EGFRvIII cells can persist for years in the circulation and suggest that this cell therapy approach could be optimized to achieve broader efficacy in recurrent GBM patients.
Radiotherapy in the management of gist: state of the art and new potential scenarios
Authors: L Gatto, M Nannini, M Saponara, V Di Scioscio, G Beltramo, G P Frezza, G Ercolani, A D Pinna, A Astolfi, M Urbini, G Brandi, G Biasco, M A Pantaleo
Journal: Clin Sarcoma Res (2017)
Keywords: gist, radiotherapy, treatment
MeSH terms: Case Reports

Background:
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract. The main treatment for localized gastrointestinal stromal tumors is surgical resection. Unresectable or advanced GIST are poorly responsive to conventional cytotoxic chemotherapy but the introduction of tyrosine kinase inhibitors (TKIs) marked a revolutionary step in the treatment of these patients, radically improving prognosis and clinical benefit. Historically GIST has been considered radiation-resistant, and the role of radiotherapy in the management of patients with GIST is currently restricted to symptomatic palliation in current treatment guidelines.
Case presentation:
Here we report two patients affected by metastatic GIST, treated with radiotherapy and radiosurgery in combination with TKIs, achieving an unexpected objective response in the first case and a significant clinical benefit associated with a local tumor control of several months in the second case.
Conclusions:
These and other successful experiences that are progressively accumulating, open up new scenarios of use of radiation therapy in various settings of treatment. GIST is not universally radioresistant and radiotherapy, especially if combined with molecularly targeted therapy, can improve the outcomes for patients diagnosed with GIST.
Opportunities and Obstacles Associated With Sequential Immune Reconstitution Therapy for Multiple Sclerosis: A Case Report
Authors: Riccardo Garbo, Daniela Cutuli, Simone Lorenzut, Gian Luigi Gigli, Daniele Bagatto, Mariarosaria Valente
Journal: Front Neurol (2021)
Keywords: alemtuzumab, case report, cladribine, immune reconstitution therapy, multiple sclerosis
MeSH terms: Case Reports

Cladribine is an effective disease-modifying treatment for relapsing-remitting multiple sclerosis that acts as an immune reconstitution therapy and is administered in a pulsed manner. Despite its efficacy, severe disease reactivation early after treatment represents a serious clinical problem, and clear evidence to guide the management of such a situation is lacking. Here, we describe the case of a patient experiencing considerable disease activity during the 1st year after the initiation of cladribine treatment. The patient was switched to alemtuzumab and, therefore, received double immune reconstitution therapy. Data regarding this approach are lacking, and real-world observations may be of interest. Despite achieving good control of disease activity, we observed several serious infectious complications. Our results suggest that sequential immune reconstitution therapies may be effective; however, at the price of higher susceptibility to infections.
Essure Surgical Removal and Subsequent Resolution of Chronic Pelvic Pain: A Case Report and Review of the Literature
Authors: Isamarie Lora Alcantara, Shadi Rezai, Catherine Kirby, Annika Chadee, Cassandra E Henderson, Malvina Elmadjian
Journal: Case Rep Obstet Gynecol (2016)

Background. Hysteroscopic tubal sterilization (Essure) is a minimally invasive option for permanent contraception with high reported rates of patient satisfaction. A small percentage of these women subsequently choose to have the tubal inserts removed due to regret or perceived side effects such as late-onset pelvic pain secondary to placement of the Essure device. Case. A twenty-nine-year-old woman G4P4014 presented with a two-year complaint of chronic pelvic pain and dyspareunia after the hysteroscopic placement of an Essure device for sterilization. On reviewing the images of the HSG, it was noted that although tubal occlusion was confirmed, the left Essure coil appeared curved on itself in an elliptical fashion and did not seem to follow the expected anatomic trajectory of the fallopian tube. The patient reported resolution of chronic pelvic pain following laparoscopic removal of Essure device. Conclusion. A misplaced Essure device should be considered in the differential diagnosis of chronic pelvic pain in women who had difficult placement of the device. In addition to demonstrating tubal occlusion, careful examination of the configuration of the Essure microinserts on HSG examination provides valuable information in patients with pelvic pain after Essure placement.
A Rare Case of ARDS Caused by Bupropion Inhalation and Treated with Noninvasive Ventilation
Authors: Yousif Al-Saiegh, Jenna Spears, Pieter S De Klerk, Joshua Hitchings, Christopher Lee, Tamara Mahr
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Acute respiratory distress syndrome, characterized by the Berlin criteria, is associated with a high mortality rate. Its treatment includes addressing the underlying etiology, general supportive measures, and achievement of effective oxygenation. New key data indicates that in a subset of patients, noninvasive ventilation techniques can be a therapeutic and equivalent alternative to traditional invasive ventilation. We present a rare case of ARDS triggered by nasal bupropion inhalation and effectively treated with noninvasive positive pressure ventilation resulting in complete resolution.
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome
Authors: Chun-Ling Xia, Yuan Lyu, Chuang Li, Huan Li, Zhi-Tao Zhang, Shao-Wei Yin, Yan Mao, Wen Li, Ling-Yin Kong, Bo Liang, Hong-Kun Jiang, Jesse Li-Ling, Cai-Xia Liu, Jun Wei
Journal: Front Genet (2019)
Keywords: igf2, silver–russell syndrome, de novo, splicing variant, whole-exome-sequencing
MeSH terms: Case Reports

Silver-Russell syndrome (SRS) is a rare, well-recognized disorder characterized by growth restriction, including intrauterine and postnatal growth. Most SRS cases are caused by hypomethylation of the paternal imprinting center 1 (IC1) in chromosome 11p15.5 and maternal uniparental disomy in chromosome 7 (UPD7). Here, we report on a Chinese family with a 4 year old male proband presenting with low birth weight, growth retardation, short stature, a narrow chin, delayed bone age, and speech delays, as a result of a rare molecular etiology. Whole-exome sequencing was conducted, and a novel de novo IGF2 splicing variant, NM_000612.4: c.157+5G > A, was identified on the paternal allele. In vitro functional analysis by RT-PCR and Sanger sequencing revealed that the variant leads to an aberrant RNA transcript lacking exon 2. Our results further confirm the IGF2 variant mediates SRS and expand the pathogenic variant and phenotypic spectrum of IGF2-mediated SRS. The results indicate that, beyond DNA methylation and UPD7 and CDKN1C variant tests, IGF2 gene screening should also be considered for SRS molecular diagnoses.
Testicular seminomatous mixed germ cell tumor with choriocarcinoma and teratoma with secondary somatic malignancy: a case report
Authors: Amandeep Aneja, Siddharth Bhattacharyya, Jack Mydlo, Susan Inniss
Journal: J Med Case Rep (2014)

Introduction:
Testicular tumors are a heterogeneous group of neoplasms exhibiting diverse histopathology and can be classified as seminomatous and non-seminomatous germ cell tumor types. Mixed germ cell tumors contain more than one germ cell component and various combinations have been reported. Here, we present a rare case of a mixed germ cell tumor composed of seminoma, choriocarcinoma and teratoma with a secondary somatic malignancy.
Case presentation:
A 31-year-old Caucasian man presented with splenic rupture to our hospital. A right-sided testicular swelling had been present for 6 months and his alpha-fetoprotein, beta-human chorionic gonadotropin, and lactose dehydrogenase were increased. An ultrasound of his scrotum revealed an enlarged right testis with heterogeneous echogenicity. Multiple hypervascular lesions were noted in his liver and spleen. He underwent transcatheter embolization therapy of his splenic artery followed by splenectomy and right-sided orchiectomy. A computed tomography scan also showed metastasis to both lungs. During his last follow up after four cycles of cisplatin-based chemotherapy, the level of tumor markers had decreased, decreases in the size of his liver and pulmonary lesions were noted but new sclerotic lesions were evident in his thoracolumbar region raising concern for bony metastasis.
Conclusions:
Prognosis of testicular tumor depends mainly on the clinical stage, but emergence of a sarcomatous component presents a challenge in the treatment of germ cell tumors and the histological subtype of this component can be used as a guide to specific chemotherapy in these patients.