OpenMed/multicare-articles huggingface dataset:
Intra-Arterial Chemotherapy as Primary Therapy for Retinoblastoma in Infants Less than 3 Months of Age: A Series of 10 Case-Studies
Authors: Miaojuan Chen, Junyang Zhao, Jiejun Xia, Zhenyin Liu, Hua Jiang, Gang Shen, Haibo Li, Yizhou Jiang, Jing Zhang
Journal: PLoS One (2016)
MeSH terms: Antineoplastic Agents / administration & dosage, Antineoplastic Agents / therapeutic use, Retinal Neoplasms / drug therapy, Retinoblastoma / drug therapy, Child, Preschool, Female, Humans, Infant, Infusions, Intra-Arterial, Male, Retrospective Studies, Treatment Outcome, Antineoplastic Agents

Purpose:
Retinoblastoma is the most common primary malignant intra-ocular tumor in children. Although intra-arterial chemotherapy (IAC) by selectively infusing chemotherapy through the ophthalmic artery has become an essential technique in the treatment of advanced intra-ocular retinoblastoma in children, the outcome of IAC as primary therapy for infants less than 3 months of age remains unknown. In this retrospective study, we reviewed the outcome of IAC as primary therapy for retinoblastoma in infants less than 3 months of age.
Methods:
We retrospectively reviewed ten retinoblastoma patients attending our center from January 2009 to September 2015 and beginning primary IAC before the age of 3 months. The patient characteristics, overall outcomes and therapy-related complications were assessed.
Results:
The mean patient age at the first IAC treatment was 10.4 weeks (range 4.9-12.9 weeks). These eyes were classified according to the International Classification of Retinoblastoma (ICRB) as group A (n = 0), B (n = 2), C (n = 0), D (n = 9), or E (n = 2). A total of 28 catheterizations were performed, and the procedure was stopped in one patient because of internal carotid artery spasm. Each eye received a mean of 2.6 cycles of IAC (range 2-4 cycles). After IAC with a mean follow-up of 28.3 months (range 9-65 months), tumor regression was observed in 12 of 13 eyes. One eye was enucleated due to tumor progression. All patients are alive and no patient has developed metastatic disease or other malignancies.
Conclusions:
Our experience suggests IAC as primary therapy is a feasible and promising treatment for retinoblastoma in infants less than 3 months of age.
An Early-Onset Advanced Rectal Cancer Patient With Increased KRAS Gene Copy Number Showed A Primary Resistance to Cetuximab in Combination With Chemotherapy: A Case Report
Authors: Tian Fang, Tingting Liang, Yizhuo Wang, Haitao Wu, Shuhan Liu, Linying Xie, Zhihao Zhang, Jiaying Liang, Cheng Yao, Yehui Tan, Chang Wang
Journal: Front Oncol (2021)
Keywords: kras, anti-egfr monoclonal antibody, case report, cetuximab, colorectal cancer, gene amplification, gene copy number
MeSH terms: Case Reports

Mutations in KRAS (codon 12/13), NRAS, BRAF V600E, and amplification of ERBB2 and MET account for 70-80% of anti-epidermal growth factor receptor (EGFR) monoclonal antibody primary resistance. However, the list of anti-EGFR monoclonal antibody primary resistance biomarkers is still incomplete. Herein, we report a case of wild-type RAS/BRAF metastatic colorectal cancer (CRC) with resistance to anti-EGFR monoclonal antibody and chemotherapy. Initially, mutation detection in postoperative tumor tissue by using amplification-refractory mutation system polymerase chain reaction indicated wild-type RAS/BRAF without point mutations, insertion deletions, or fusion mutations. Therefore, we recommended combined therapy of cetuximab and FOLFIRI after failure of platinum-based adjuvant chemotherapy, but the disease continued to progress. Next generation sequencing analysis of the postoperative tumor tissue revealed that KRAS copy number was increased and detected SMAD4, RNF43, and PREX2 mutations. This is the first case of advanced CRC with increased copy numbers of KRAS resistant to cetuximab and chemotherapy, which results in poor patient survival, and other mutated genes may be associated with the outcomes. Our findings indicate KRAS copy number alterations should also be examined, especially with anti-EGFR monoclonal antibody therapy in CRC, since it may be related with the primary resistance to these drugs.
Case report: Thrombotic microangiopathy concomitant with macrophage activation syndrome in systemic lupus erythematosus refractory to conventional treatment successfully treated with eculizumab
Authors: Makoto Yamaguchi, Masashi Mizuno, Fumiya Kitamura, Shiho Iwagaitsu, Hironobu Nobata, Hiroshi Kinashi, Shogo Banno, Akimasa Asai, Takuji Ishimoto, Takayuki Katsuno, Yasuhiko Ito
Journal: Front Med (Lausanne) (2023)
Keywords: eculizumab, macrophage activation syndrome, neuropsychiatric systemic lupus erythematosus, systemic lupus erythematosus, thrombotic microangiopathy
MeSH terms: Case Reports

Thrombotic microangiopathy (TMA) is a rare but life-threatening complication of systemic lupus erythematosus (SLE). Macrophage activation syndrome (MAS) is also a rare, life-threatening hyperinflammatory condition that is comorbid with SLE. However, the association between TMA and MAS in patients with SLE has rarely been assessed, and the difficulty of diagnosing these conditions remains prevalent. The efficacy of eculizumab has been reported for SLE patients whose conditions are complicated with TMA. However, no study has investigated the therapeutic efficacy of eculizumab for TMA concomitant with SLE-associated MAS. Herein, we report the first case of TMA concomitant with SLE-associated MAS that was initially refractory to conventional immunosuppressive therapy but showed remarkable recovery after eculizumab treatment. Furthermore, we evaluated serum syndecan-1 and hyaluronan levels, which are biomarkers of endothelial damage. We found that these levels decreased after the administration of eculizumab, suggesting that TMA was the main pathology of the patient. This case illustrates that it is important to appropriately assess the possibility of TMA during the course of SLE-associated MAS and consider the use of eculizumab as necessary.
Puerperal group a streptococcal infections: a case series and discussion
Authors: Mary T Busowski, Melissa Lee, John D Busowski, Kauser Akhter, Mark R Wallace
Journal: Case Rep Med (2013)

Puerperal group A streptococcal infections, a major postpartum killer during the late 19th and early 20th centuries, have become (fortunately) rare. We describe a cluster of 4 serious peripartum group A streptococcal infections occurring within the past five years at a single medical center. These cases were not epidemiologically linked and serve to illustrate the continuing risk of these potentially fulminant infections.
Pathologic collision of inverted papilloma with esthesioneuroblastoma
Authors: Sana D Karam, Ann K Jay, Cynthia Anyanwu, Matthew K Steehler, Bruce Davidson, Pedro Debrito, K William Harter
Journal: Front Oncol (2014)
Keywords: collision tumor, esthesioneuroblastoma, head and neck cancer, inverted papilloma, sinonasal malignancy, skull base

Background:
Inverted papilloma (IP) of the nasal cavity is a benign tumor that represents 0.5-4% of all nasal tumors and have been known to rarely undergo malignant transformation to squamous carcinoma and even more rarely adenocarcinoma. Synchronous association with low-grade esthesioneuroblastoma (ENB) has been reported in only one case report where a small-sized lesion was treated with surgery alone. Here we report the first case of invasion of IP by high-grade ENB with nodal metastasis that was treated with combined modality therapy.
Case presentation:
A case of a 64-year-old African American gentleman presented to the otolaryngology with a 3-month history of recurrent epistaxis. Imaging revealed a large right nasal cavity mass extending into the right sphenoid sinus but without intracranial extension. Surgical pathology revealed high-grade ENB invading IP. An orbitofrontal craniotomy approach was used to achieve complete resection of the mass but with positive margins. Post-operative positron emission tomography/computed tomography showed nodal metastasis. The patient was then treated with adjuvant chemoradiation and remains without evidence of disease at 42 months post-treatment. We discuss the disease presentation, histopathologic features, and disease management with literature support.
Conclusion:
In this very rare disease presentation where two extremely rare malignancies collide, we show that aggressive management with trimodality therapy of surgery, adjuvant radiation with stereotactic radiosurgical boost, and adjuvant chemotherapy gives excellent results. Given the natural history of the disease, however, long follow-up is needed to declare complete freedom from the disease.
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
Authors: Siri Fredheim, Jannet Svensson, Sven Pørksen, Lars Hansen, Torben Hansen, Oluf Borbye Pedersen, Henrik Bindesbøl Mortensen, Fabrizio Barbetti, Lotte Brøndum Nielsen
Journal: Case Rep Genet (2011)
MeSH terms: Case Reports

Aim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene. Methods/Results. A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule causing permanent neonatal diabetes. All three were diagnosed before 29 weeks of age, were born at term with near-normal birth weight, and were negative for GAD, ICA, IA-2, and IAA autoantibodies. The daily insulin requirement the first six months after diagnosis was <0.5 U kg(-1) day(-1) for both children. The father, insulin treated for over 40 years, has bilateral preproliferative retinopathy. Conclusions. These three cases further confirm the essential features of diabetes caused by INS mutations with proteotoxic effect. We conclude that patients with similar features must be investigated for mutations of INS gene.
Peripapillary choroidal neovascularization in pars planitis
Authors: Sonia Mehta, Luxme Hariharan, Allen C Ho, John H Kempen
Journal: J Ophthalmic Inflamm Infect (2013)

Background:
Choroidal neovascularization (CNV) is a rare complication of intermediate uveitis. Risk factors are not well-characterized. Here, we describe a case of peripapillary CNV in a patient with intermediate uveitis and explore the pathophysiology and treatment of this condition. This study is a case report and review of the literature.
Results:
A 15-year-old boy with intermediate uveitis - suppressed for the preceding year on immunosuppressive therapy and low-dose corticosteroids - and chronic disc swelling presented with unilateral metamorphopsia, peripapillary subretinal hemorrhage, and subretinal fluid. Fluorescein angiogram confirmed the presence of an active choroidal neovascular membrane. Treatment with intravitreal bevacizumab 1.25 mg every 4 weeks for 4 months resulted in resolution of subretinal fluid, subretinal hemorrhage, and regression of the CNV. The patient's intermediate uveitis remained inactive throughout this time.
Conclusion:
Review of the existing literature and pathophysiologic consideration suggests that chronic disc edema may be a risk factor for this condition. Peripapillary CNV in the context of intermediate uveitis appears to respond well to VEGF-inhibitor therapy.
An unusual case of metastasis to the left side of the heart: a case report
Authors: Bharadwaj Cheruvu, Praveena Cheruvu, Michael Boyars
Journal: J Med Case Rep (2011)

Introduction:
Cardiac metastases are found in six to 20% of autopsies of patients with malignant neoplasm. The most common neoplasms that metastasize to the heart are malignant melanoma, lymphoma, and leukemia, but the relative numbers are greater with breast and lung cancers, reflecting the most common incidence of these cancers.
Case presentation:
A 60-year-old Hispanic man presented to our hospital after being transferred from an outside hospital for workup and evaluation of an adrenal mass of the abdomen and pelvis, found on computed tomography. His chief complaint upon admission was altered mental status. Physical examination was unremarkable. He was alert and oriented and had a dry and non-erythematous oropharynx, and bilateral diffuse wheezing on lung examination. Computed tomography of the chest showed multiple hypodense lesions in the left ventricular myocardium, suggestive of metastases. There were also tiny sub-centimeter nodular densities in the right upper and lower lobes. Adrenal glands contained hypodense lesions, which showed characteristic adenocarcinomatous malignant cells.
Conclusion:
Cancers which have metastasized to the heart are found in six to 20% of patients with malignant neoplasms. The right side of the heart is more commonly involved in metastasis. This study is unusual in that a tumor of an unknown primary origin had metastasized to the left side of the heart.
Cystoscopically Guided Repair of a Posterior Perforation of Augmented Bladder
Authors: Felicia Balzano, Humberto Villarreal, Thomas E Novak
Journal: J Endourol Case Rep (2019)
Keywords: bladder augmentation, bladder perforation, instrumentation, translational medicine, urinary diversion
MeSH terms: Case Reports

Background: Augmentation cystoplasty for the management of neurogenic bladder is one of the mainstays of pediatric urology. This procedure has multiple well-known complications. The most dangerous of these complications is bladder perforation, which has a mortality rate of 23% to 25% in large part caused by delayed presentation and sepsis. This case report discusses a novel method for identifying the perforation using endourologic techniques to allow for easier repair. Case Presentation: A 24-year-old woman with a history of spina bifida s/p augmentation cystoplasty with appendicovesicostomy and rectus fascia bladder neck sling 5 years ago presented to the emergency department with a 2-day history of decreased oral intake, nausea, vomiting, fevers, diffuse abdominal pain, and distention. She was found on CT cystogram to have a contrast extravasation from the posterior-dependent portion of the bladder and a large retrovesical fluid collection. On exploratory laparotomy, a leak from the posterior portion of the bladder was confirmed. Owing to the conditions in the abdomen and the patient's obese body habitus, the perforation was very difficult to view. A 17F rigid cystoscope was utilized and the perforation was identified on the posterior inferior portion of the bladder at the anastomotic line. A wire was passed through the perforation into the abdomen where it was seen and an 18F council catheter was then placed in an antegrade manner from the abdomen. Placement of the catheter and inflation of the balloon did not cause any additional apparent damage to the bladder mucosa. With the catheter on traction, the dependent bladder could be pulled back into the operative field, allowing complete observation of the defect for water-tight two-layer closure. Conclusion: Bladder perforation after augmentation cystoplasty is a potentially life-threatening complication that can be difficult to repair. This article serves to present a novel way to identify and facilitate repair of the defect intraoperatively using endourologic principles for a posterior defect.
Right Atrial Thrombus in a COVID-19 Child Treated Through Cardiac Surgery
Authors: Hamid Bigdelian, Mohsen Sedighi, Mohammad Reza Sabri, Bahar Dehghan, Zahra Pourmoghaddas, Rana Saleh, Alireza Sherafat, Gholamreza Massoumi, Mohammad Kazem Rezaei, Masoud Shahbazi
Journal: Front Cardiovasc Med (2020)
Keywords: covid-19, cardiac surgery, fever, pediatric, thrombus—echocardiography
MeSH terms: Case Reports

We herein report a case of large intracardiac thrombus in a child with SARS-CoV-2 infection (COVID-19). The diagnosis of COVID-19 was confirmed through HRCT and RT-PCR. Transthoracic echocardiography revealed a large thrombus in the right atrium treated successfully via cardiac surgery. The underlying mechanisms of this thrombus in the COVID-19 infection may be attributed to the hypercoagulation and inflammatory condition incurred by the COVID-19 virus.
Neuroblastoma accompanied by hyperaldosteronism
Authors: Kaan Gulleroglu, Umut Bayrakci, Sibel Tulgar Kinik, Nihal Uslu, Alev Ok Atilgan, Faik Sarialioglu, Esra Baskin
Journal: J Renal Inj Prev (2014)
Keywords: hyperaldosteronism, hypertension, neuroblastoma
MeSH terms: Case Reports

Background:
Tumors known derived from kidneys which take place in secondary hyperaldosteronism etiology are juxtaglomerular cell tumor and Wilms' tumor. Neuroblastoma presenting with hyperaldosteronism is rare.
Case:
A 15-month-old girl who had been having diarrhea and fever for 2 weeks presented with a 3 day history of bilious vomiting, metabolic acidosis and severe hypokalemia. She was referred to our hospital with the pre-diagnosis of unknown manifest hypertension etiology, diarrhea, and paralytic ileus after having therapy-resistant hypokalemia and severe resistant acidosis. On her examination after being admitted to our clinic, she was weak, unwell and lethargic with a blood pressure of 140/93 mmHg. Due to the hypertension and severe hypokalemia, the patient was considered to be hyperaldosteronism. Serum aldosterone level, plasma renin activity and cortisol level were elevated. Radiologic findings were compatible with neuroblastoma. The patient underwent an abdominal surgery and the mass excision. The histopathological examination was proved neuroblastoma.
Conclusion:
Hyperaldosteronism can be presented by unexpected atypical forms as in our patient.
Kidney dysfunction due to AA amyloidosis in a morbidly obese female
Authors: Hassan Izzedine, Abhishek Nimkar, Joyita Bharati, Isabelle Brocheriou, Alexis Mathian, Frederic Charlotte, Kenar D Jhaveri, Sophie Georgin-Lavialle
Journal: Clin Nephrol Case Stud (2023)
Keywords: amyloidosis, inflammation, obesity, serum amyloid a
MeSH terms: Case Reports

Kidneys are commonly involved in systemic amyloidosis. Systemic AA amyloidosis is known to be associated with states of chronic inflammation such as autoimmune conditions, chronic infections, and malignancies. Obesity is increasingly recognized to be a risk factor for low-grade, chronic inflammation. We report a 48-year-old female with morbid obesity who presented with unexplained persistent mild kidney dysfunction and low-grade proteinuria. Attempt at evaluating the cause of kidney dysfunction included performing kidney biopsy despite technical challenges. Kidney biopsy showed AA amyloidosis with predominant vascular deposition, explaining the absence of nephrotic-range proteinuria. Evaluation for secondary causes of systemic AA amyloidosis was negative. While our patient was treated with sleeve gastrectomy for morbid obesity with reasonable response, it is likely that ongoing chronic inflammation, reflected by her laboratory markers, resulted in AA amyloidosis. Treatment with anakinra, an interleukin-1 antagonist, led to improvement in the laboratory markers in the next 6 months, and her kidney function remained stable. This report highlights an important cause of kidney dysfunction in morbid obesity, an atypical presentation of AA amyloidosis, and emphasizes the value of kidney biopsy in such patients.
Case Report: Ofatumumab treatment in a patient with rituximab-intolerant refractory autoimmune GFAP astrocytopathy
Authors: Shugang Cao, Jing Du, Sidi Pan, Juanjuan Zhang, Si Xu, Ling Wei, Yanghua Tian
Journal: Front Immunol (2023)
Keywords: efficacy, glial fibrillary acidic protein astrocytopathy, ofatumumab, rituximab, safety
MeSH terms: Antibodies, Monoclonal, Humanized / adverse effects, Antibodies, Monoclonal, Humanized / therapeutic use, Autoimmune Diseases / therapy, Case Reports, Adult, Female, Glial Fibrillary Acidic Protein, Humans, Hypersensitivity, Immunosuppressive Agents, Rituximab / therapeutic use, Antibodies, Monoclonal, Humanized, Glial Fibrillary Acidic Protein, Immunosuppressive Agents, ofatumumab, Rituximab

Background:
Ofatumumab, a fully humanized anti-CD20 monoclonal antibody, has shown promising efficacy in limited cases of neuromyelitis optica spectrum disorder, but there is a lack of studies on its use in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy. We present a case of refractory GFAP astrocytopathy with poor response to conventional immunosuppressants and rituximab who responded well to subcutaneous ofatumumab.
Case report:
The patient is a 36-year-old woman with a diagnosis of GFAP astrocytopathy and high disease activity. She experienced five relapses over three years despite immunosuppressive treatment with oral prednisone, azathioprine, mycophenolate mofetil, and intravenous rituximab. Additionally, her circulating B cells were not completely depleted during the second administration of rituximab and an allergic reaction occurred. Based on insufficient B cell depletion and allergic reaction to rituximab, subcutaneous ofatumumab was introduced. After twelve injections of ofatumumab without injection-related reactions, she had no further relapses and was sufficiently depleted of the circulating B cells.
Discussion:
This case illustrates the effective use and good tolerance of ofatumumab in GFAP astrocytopathy. Further studies are needed to investigate the efficacy and safety of ofatumumab in refractory GFAP astrocytopathy or those intolerant to rituximab.
Clinical expression of an inherited unbalanced translocation in chromosome 6
Authors: Bani Bandana Ganguly, Vijay Kadam, Nitin N Kadam
Journal: Case Rep Genet (2011)
MeSH terms: Case Reports

Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.