OpenMed/multicare-articles huggingface dataset:
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs
Authors: Vincenzo Piccolo, Teresa Russo, Daniela Di Pinto, Elvira Pota, Martina Di Martino, Giulio Piluso, Andrea Ronchi, Giuseppe Argenziano, Eugenia Veronica Di Brizzi, Claudia Santoro
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, usb1, mastocytosis, poikiloderma with neutropenia, skin cancer
MeSH terms: Case Reports

Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.
Primary Renal Synovial Sarcoma Presenting as Haemorrhagic Shock: A Rare Presentation
Authors: Ibrahim Alzahrani, Nasser Albqami, Abdullah Alkhayal, Nourah AlOudah, Ali Alyami
Journal: J Kidney Cancer VHL (2021)
Keywords: primary renal synovial sarcoma, rare renal tumours, renal tumour histology, soft-tissue sarcomas
MeSH terms: Case Reports

Primary synovial sarcoma (PSS) of the kidney is considered the rarest type of all renal sarcomas with specific chromosomal translocation t (X; 18) (p11.2; q11.2). We report the case of a 65-year-old man with no medical conditions who presented to the emergency department with sudden severe right flank pain associated with haemodynamic instability and haemorrhagic shock. Computed tomography (CT) of the abdomen and pelvis revealed a right renal mass. A right open radical nephrectomy was performed. Histopathology revealed a monophasic synovial sarcoma. The patient received six cycles of docetaxel and gemcitabine as adjuvant chemotherapy. No sign of recurrence was seen on a follow-up CT urogram. This rare tumour often presents atypically, and clear guidelines regarding appropriate treatment are lacking. Our case showed that treatment with docetaxel/gemcitabine after an open radical nephrectomy is promising.
Risk factors for in-hospital mortality after coronary artery bypass grafting in patients 80 years old or older: a retrospective case-series study
Authors: Jacek Piątek, Anna Kędziora, Janusz Konstanty-Kalandyk, Grzegorz Kiełbasa, Marta Olszewska, Bryan HyoChan Song, Karol Wierzbicki, Irena Milaniak, Tomasz Darocha, Dorota Sobczyk, Bogusław Kapelak
Journal: PeerJ (2016)
Keywords: cabg, elderly patients, in-hospital mortality, postoperative complicatios, risk factors

Background:
Age remains a significant and unmodifiable risk factor for cardiovascular diseases, and an increasing number of patients older than 80 years of age undergo Coronary Artery Bypass Grafting (CABG). Old age is also an independent risk factor for postoperative complications. The aim of this study is to describe the population of patients 80 years of age or older who underwent CABG procedure and to assess the mortality rate and risk factors for in-hospital mortality.
Methods:
A retrospective case-series study analyzing 388 consecutive patients aged 80 years of age or older who underwent isolated CABG procedure between 2010 and 2014 in the Department of Cardiovascular Surgery and Transplantology, John Paul II Hospital, Krakow.
Results:
In-hospital mortality stood at 7%, compared to 3.4% for all isolated CABG procedures at our Institution. In an univariate logistic regression analysis, risk factors for in-hospital mortality were as follows: NYHA class (p = 0.005, OR 1.95, 95% CI [1.23-3.1]), prolonged mechanical ventilation (p < 0.001, OR 7.08, 95% CI [2.47-20.3]), rethoracotomy (p = 0.04, OR 3.31, 95% CI [1.04-10.6]), duration of the procedure and ECC (for every 10 min p = 0.01, OR 1.01, 95% CI [1.0-1.01]; p = 0.03, OR 1.01, 95% CI [1.0-1.02], respectively), PRBC, FFP, and PLT transfusion (for every unit transfused p = 0.004, OR 1.42, 95% CI [1.12-1.8]; p = 0.002, OR 1.55, 95% CI [1.18-2.04]; p = 0.009, OR 1.93, 95% CI [1.18-3.14], respectively). Higher LVEF (p = 0.02, OR 0.97, 95% CI [0.94-0.99]) and LIMA graft implantation (p = 0.04, OR 0.36, 95% CI [0.13-0.98) decreased the in-hospital mortality. Death before discharge was more often observed in patients with multiple risk factors for cardiovascular diseases (0-2 -5.7%; 3-7.4%, 4-26.6%; p = 0.03).
Conclusions:
Older age is associated with higher in-hospital mortality after isolated CABG at our Institution. Risk stratification scores and individualized risk evaluation, centered on comorbidities, NYHA class and left ventricular function, should be assessed in all cases. Whenever suitable, LIMA grafts should be used. Prolonged procedure and ECC time worsen the short-term outcome. Elderly individuals should be closely monitored postoperatively and the care should be focused on excessive blood loss and respiratory failure.
Epithelioid trophoblastic tumor: a case report and review of the literature
Authors: Eirwen M Scott, Ashlee L Smith, Mohamed Mokhtar Desouki, Alexander B Olawaiye
Journal: Case Rep Obstet Gynecol (2012)

Epithelioid trophoblastic tumor (ETT) is a rare gestational trophoblastic tumor. Cases of ETT present as abnormal vaginal bleeding in women of reproductive age, with low human chorionic gonadotropin (hCG) levels. ETT can be a sequela of any gestational event and can present in both intrauterine and extrauterine sites. Metastasis and death have been reported. We present a case of a 44-year-old female incidentally diagnosed with ETT following laparoscopic-assisted vaginal hysterectomy. Postoperative evaluation for metastatic disease was negative. The patient has been closely followed and remains disease free 8 months postoperatively. ETT presents a diagnostic challenge due to its rarity and histologic resemblance to other pathologies. ETT is relatively chemoresistant and managed surgically. Misdiagnosis delays effective treatment and affects survival.
Human Dirofilaria repens Infection in Romania: A Case Report
Authors: Ioana Popescu, Irina Tudose, Paul Racz, Birgit Muntau, Calin Giurcaneanu, Sven Poppert
Journal: Case Rep Infect Dis (2012)
MeSH terms: Case Reports

Human dirofilariasis is a zoonotic infectious disease caused by the filarial nematodes of dogs Dirofilaria repens and Dirofilaria immitis. Depending on the species involved, human infections usually manifest as one cutaneous or visceral larva migrans that forms a painless nodule in the later course of disease. Dirofilariae are endemic in the Mediterranean, particularly in Italy. They are considered as emerging pathogens currently increasing their geographical range. We present one of the few known cases of human dirofilariasis caused by D. repens in Romania. The patient developed unusual and severe clinical manifestations that mimicked pathological conditions like cellulitis or deep venous thrombosis.
Nintedanib in an elderly non-small-cell lung cancer patient with severe steroid-refractory checkpoint inhibitor-related pneumonitis: A case report and literature review
Authors: Lei Pan, Fanqi Meng, Wei Wang, Xu-Hao Wang, Hui Shen, Pengchen Bao, Jian Kang, Delei Kong
Journal: Front Immunol (2023)
Keywords: checkpoint inhibitor-related pneumonitis, immunotherapy, nintedanib, non-small-cell lung cancer, pulmonary fibrosis
MeSH terms: Carcinoma, Non-Small-Cell Lung, Lung Neoplasms, Pneumonia / pathology, Case Reports, Review, Aged, Fibrosis, Humans, Steroids / therapeutic use, nintedanib, Steroids

Immune checkpoint inhibitors tremendously improve cancer prognosis; however, severe-grade immune-related adverse events may cause premature death. Current recommendations for checkpoint inhibitor-related pneumonitis (CIP) treatment are mainly about immunosuppressive therapy, and anti-fibrotic agents are also needed, especially for patients with poor response to corticosteroids and a longer pneumonitis course. This is because fibrotic changes play an important role in the pathological evolution of CIP. Here, we report a case demonstrating that nintedanib is a promising candidate drug for CIP management or prevention, as it has potent anti-fibrotic efficacy and a safety profile. Moreover, nintedanib could partially inhibit tumor growth in patients with non-small-cell lung cancer, and its efficacy can be improved in combination with other anti-tumor therapies.
Delayed amplatzer occluder device closure of postinfarction ventricular septal defect: a case report
Authors: Francis Ting, Aditya Bhat, Neville Sammel, David Muller
Journal: Case Rep Cardiol (2014)

Postinfarction ventricular septal defect (VSD) is a rare complication after acute myocardial infarction, with an incidence rate of 1-2% of all myocardial infarcts (Hutchins, 1979). It is a medical emergency with sobering survival numbers, having a mortality rate of 70-80% within two weeks of the incident event (Bouchart et al., 1998). Cardiac surgery is considered the gold standard in the management of these defects; however, its main limitation is that it carries a high risk of perioperative mortality and postoperative sequelae. Percutaneous transcatheter closure of VSD is a relatively new method of repair. Due to scarcity of reports in the literature, there is limited data regarding survival data; however, noninferiority to surgery has been demonstrated in one case series (Papalexopoulou et al., 2013). Long-term follow-up studies are lacking, and thus long-term mortality has yet to be discerned. We present a case of an 87-year-old female who, following postmyocardial infarction VSD, developed clinically significant heart failure. The patient was reluctant to undergo open repair given her age and comorbidities and she underwent successful percutaneous repair of her VSD using a 16 mm Amplatzer occluder device 18 months after her initial presentation.
Spinal epidural lipomatosis presenting to a U.S. Veterans Affairs pain and rehabilitation department: a report of two cases
Authors: Keith M Silcox, Clinton J Daniels, Glenn A Bub, Pamela J Wakefield, James D Toombs
Journal: Chiropr Man Therap (2018)
Keywords: case series, chiropractic, epidural fat, epidural steroid injection, lipomatosis, spinal stenosis
MeSH terms: Lipomatosis / diagnosis, Spinal Cord Diseases / diagnosis, Case Reports, Humans, Lipomatosis / diagnostic imaging, Magnetic Resonance Imaging, Male, Middle Aged, Spinal Cord Diseases / diagnostic imaging, United States, United States Department of Veterans Affairs, Veterans

Background:
Spinal epidural lipomatosis is an uncommon source of neurogenic claudication. We present two cases of spinal epidural lipomatosis as it relates to diagnosis, management, and a possible association with common medical intervention.
Case presentation:
Case 1: 63-year old male patient presented with neurogenic claudication symptoms, but without evidence of bony central canal stenosis on lumbar computed tomography. He entered a trial of spinal manipulation with transient beneficial gains after seven appointments, but no durable change in neurogenic claudication. An MRI was recommended at this point which revealed grade III spinal epidural lipomatosis at the L5/S1 level.Case 2: 51-year old male patient presented to a pain management physician with radicular symptoms for a series of lumbar epidural steroid injections. He completed a series of three lumbar epidural steroid injections with only short-term benefit. A repeat MRI demonstrated the presence of grade I (borderline grade II) spinal epidural lipomatosis.
Conclusions:
The first case illustrates a limitation of ruling out central canal stenosis with computed tomography for patients unable to undergo an MRI. The second case demonstrates a possible association between steroid injections and spinal epidural lipomatosis. An association of this kind has not been established; further research is needed to determine the significance.
Chemotherapy During Active SARS-CoV2 Infection: A Case Report and Review of the Literature
Authors: Krzysztof Woźniak, Wojciech Sachs, Piotr Boguradzki, Grzegorz Władysław Basak, Rafał Stec
Journal: Front Oncol (2021)
Keywords: covid-19, pmbcl, sars-cov-2, chemotherapy, colorectal cancer, mortality rate
MeSH terms: Review

COVID-19 has become the biggest public health problem and one of the most important causes of death in many countries in the world. SARS-CoV-2 infection is most likely to be fatal in elderly patients with concomitant diseases. In this article we present two cases of asymptomatic SARS-CoV-2-positive patients suffering from cancer who were treated with chemotherapy. The first case, a patient with primary mediastinal B-cell lymphoma, shows that confirmed SARS-CoV-2 infection does not have to be a contraindication to chemotherapy. We describe the course of disease and discuss doubts related to the choice of chemotherapy regimen. The second patient was a male with metastatic sigmoid cancer treated with FOLFOX4 as first-line palliative chemotherapy. This case draws attention to asymptomatic SARS-CoV-2 carriers who underwent chemotherapy. Our patient was safely treated with chemotherapy without long break caused by viral infection. It should be remembered that there are asymptomatic carriers among cancer patients and that they may spread infection to others. On the other hand, delaying chemotherapy can cause rapid disease progression and reduce overall survival of our patients.
Atraumatic patellar prosthesis dislocation with patellar tendon injury following a total knee arthroplasty: a case report
Authors: Vinay Kumar Singh, Pankaj Kumar Singh, Yashwant Singh, Alka Singh, Sadaf Javed, Murad Abdunabi
Journal: J Med Case Rep (2010)

Introduction:
Total knee arthroplasty is a well-established procedure with gratifying results. There is no consensus in the literature whether to routinely resurface the patella while performing total knee arthroplasty or not. Although an extremely rare occurrence in clinical practice, patellar prosthesis dislocation is a possible complication resulting from total knee arthroplasty.
Case presentation:
We report a rare case of atraumatic spontaneous dislocation of patellar prosthesis in a 63-year-old Caucasian man of British origin with patellar tendon injury. The patient was treated successfully through a revision of the patellar component and tendon repair. In two years follow-up the patient is asymptomatic with no sign of loosening of his patellar prosthesis.
Conclusions:
A thorough understanding of knee biomechanics is imperative in performing total knee arthroplasty in order to achieve a better functional outcome and to prevent early prosthetic failure.
Traumatic obturator dislocation of the hip joint: a case report and review of the literature
Authors: Redouane Hani, Mohamed Kharmaz, Mohamed Saleh Berrada
Journal: Pan Afr Med J (2015)
Keywords: hip dislocation, closed reduction, obturator, osteonecrosis
MeSH terms: Accidents, Traffic, Hip Dislocation / therapy, Traction / methods, Case Reports, Review, Adult, Follow-Up Studies, Hip Dislocation / pathology, Humans, Male, Range of Motion, Articular

We describe a case of traumatic obturator hip dislocation in an adult. Closed reduction was done under general anesthesia. Post-reduction radiographs showed concentric and congruent reduction of the right hip. Traction was applied for three weeks followed by progressive mobilization and loading. Follow up for two years after the injury showed that the patient achieved a full recovery without any evidence of hip pain or a decreased range of motion. There were no signs of osteonecrosis of the femoral head.
Retinal crystalline deposits in a patient who received chemotherapy and radiotherapy for nasopharyngeal carcinoma and subsequent anti-VEGF treatment for the bilateral radiation maculopathy
Authors: Melih Parlak, Burcin Erden, Ali Osman Saatci
Journal: GMS Ophthalmol Cases (2019)
Keywords: cisplatin, crystal, epirubicin, neurodegeneration, radiation maculopathy
MeSH terms: Case Reports

We report the occurrence of intraretinal crystalline deposits in a patient who received several anti-VEGF injections and one session of focal laser treatment for the treatment of radiation retinopathy during the treatment process. She had received three cycles of epirubicin and cisplatin together with radiation therapy seven years prior to detection of the maculopathy. The multimodal imaging features and the possible cause of the retinal crystalline deposits are discussed.
Benign cystic mesothelioma: a rare cause for scrotal swelling
Authors: A Aber, A Tahir, V Arumuham, G Smith, S Almpanis
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Benign cystic mesothelioma of the tunica vaginalis is a rare occurrence. It usually presents with painless gradual swelling in the scrotum. These types of benign mesotheliomas typically occur in the peritoneum and usually affect young to middle-aged patients. We present in this case an unusual case of benign cystic mesothelioma of the tunica vaginalis in a 77-year-old male patient.
PCSK9 inhibitors in a renal transplant patient complicated with hepatitis B: A case report and literature review
Authors: Pinchao Lv, Yuxi Li, Lin Wu, Haoyu Weng, Ming Chen, Wenhui Ding, Jianping Li
Journal: Front Cardiovasc Med (2022)
Keywords: pcsk9i, coronary heart disease, dyslipidemia, renal transplantation, viral hepatitis
MeSH terms: Case Reports

Lipid metabolism disorders are recognized to be one of the most frequent complications of renal transplantation, while dyslipidemia and chronic kidney disease (CKD) are strong risk factors for arteriosclerotic cardiovascular disease (ASCVD). Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) are novel lipid-lowering drugs, the safety and efficacy of which are yet to be confirmed in transplanted patients. There have been several small-sample studies using PCSK9i in patients after heart transplantation, while fewer cases use PCSK9i after kidney transplantation. We report a case of a renal transplant recipient complicated with hepatitis B treated with PCSK9i, which achieved a remarkable lipid-lowering efficacy, and no significant adverse effects were found during the follow-up.
Early Onset of Tenofovir-Related Fanconi Syndrome in a Child with Acute Hepatitis B: A Case Report and Systematic Review of Literature
Authors: Renato Pascale, Viola Guardigni, Lorenzo Badia, Francesca Volpato, Pierluigi Viale, Gabriella Verucchi
Journal: Case Reports Hepatol (2017)
MeSH terms: Case Reports

Tenofovir disoproxil fumarate- (TDF-) related nephropathy is known to be a long-term complication of this drug, more commonly observed in HIV-infected patients, but occurring also in hepatitis B. Cases of Fanconi Syndrome associated with TDF have been reported in adult patients, usually as a long-term complication of chronic hepatitis B treatment. We present here a case of a 12-year-old male developing a severe acute HBV hepatitis treated with TDF. The patient achieved an early virological and biochemical response, but with a subsequent onset of proximal renal tubular damage, consistent with Fanconi Syndrome. After withdrawing this drug and switching to Entecavir, a complete resolution of tubulopathy and, after 6 months, a complete HBsAg seroconversion occurred. To our knowledge, this is the first report of an early renal injury due to TDF-therapy in a pediatric patient treated for acute hepatitis B.
Long-Term Follow-Up of a Revascularized Immature Necrotic Tooth Evaluated by CBCT
Authors: C M L She, G S P Cheung, C F Zhang
Journal: Case Rep Dent (2016)

This case study reports the successful treatment of an immature upper premolar with periapical pathosis and sinus tract using revascularization technique. Clinical and radiographic examination demonstrated the recovery of vitality, continued root development, and periapical healing at the 7-month follow-up. In addition, severe calcification of the canal was noted at the 36-month follow-up. At the 66-month follow-up, cone-beam computed tomography (CBCT) revealed complete periapical healing, apical closure, increase in root length and thickness of dentin, and severe calcification of the root canal. Even though the nature of tissue within the root canal is unknown, revascularization appears to give good clinical and radiographic success. This case report highlights that severe calcification of the canal is one of the long-term outcomes of revascularized root canals.
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Authors: Samuel P Strom, Michael J Clark, Ariadna Martinez, Sarah Garcia, Amira A Abelazeem, Anna Matynia, Sachin Parikh, Lori S Sullivan, Sara J Bowne, Stephen P Daiger, Michael B Gorin
Journal: PLoS One (2016)
MeSH terms: ADP-Ribosylation Factors / genetics, Pedigree, Point Mutation, Retinitis Pigmentosa / genetics, Case Reports, Clinical Trial, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Male, Middle Aged, ADP-Ribosylation Factors, ARL3 protein, human

Background:
Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree with apparent dominant retinitis pigmentosa.
Methods:
Variant identification and analysis of three affected members (mother and two affected offspring) was performed via exome sequencing. Parental samples of the index case were used to establish inheritance. Follow-up testing of 94 additional retinitis pigmentosa pedigrees was performed via retrospective analysis or Sanger sequencing.
Results and conclusions:
A total of 136 high quality coding variants in 123 genes were identified which are consistent with autosomal dominant disease. Of these, one of the strongest genetic and functional candidates is a c.269A>G (p.Tyr90Cys) variant in ARL3. Follow-up testing established that this variant occurred de novo in the index case. No additional putative causal variants in ARL3 were identified in the follow-up cohort, suggesting that if ARL3 variants can cause adRP it is an extremely rare phenomenon.
Orbital Myiasis: Due to Invasion of Larvae of Flesh Fly (Wohlfahrtia magnifica) in a Child; Rare Presentation
Authors: R P Maurya, Deepak Mishra, Prashant Bhushan, V P Singh, M K Singh
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Wohlfahrtia magnifica larvae cause myiasis in mammals, mainly in sheep and rarely in human. In human it may infest the ear, eye, mouth or nose, damaging living tissues. We report a case of ocular myiasis in 1.5 years old child belonging to urban slum after history of minor injury on left upper lid due to fall from bed. The purpose of reporting this case is to highlight the ocular association of W. magnifica.