OpenMed/multicare-articles huggingface dataset:
Rechallenge capecitabine after fluoropyrimidine-induced cardiotoxicity in rectal cancer: A case report
Authors: Tao Peng, Yulu Ouyang, Kanger Tong
Journal: Medicine (Baltimore) (2019)
MeSH terms: Antimetabolites, Antineoplastic / administration & dosage, Antimetabolites, Antineoplastic / toxicity, Capecitabine / administration & dosage, Cardiotoxicity / etiology, Fluorouracil / toxicity, Rectal Neoplasms / drug therapy, Case Reports, Adenocarcinoma / drug therapy, Adenocarcinoma / pathology, Adult, Combined Modality Therapy, Female, Fluorouracil / administration & dosage, Humans, Liver Neoplasms / drug therapy, Liver Neoplasms / secondary, Rectal Neoplasms / pathology, Antimetabolites, Antineoplastic, Capecitabine, Fluorouracil

Rationale:
Fluoropyrimidine-induced cardiotoxicity is a rare but potentially serious toxicity. The most common symptom is anginal chest pain.
Patient concerns:
A 35-year-old woman was diagnosed with rectal cancer with metastasis to the liver.
Diagnosis:
A computed tomography scan showed a 9.3 × 4.5-cm predominantly hypodense lesion within the left lobe of the liver and thickening of the rectum. Liver biopsy showed moderately differentiated adenocarcinoma with necrosis involving the liver parenchyma, and immunohistochemistry for mismatch repair proteins indicated that the tumor was positive for MutL Homolog 1, MutS Homolog 2, MutS Homolog 6, and Protein Homolog 2. Rectal biopsy indicated moderately differentiated adenocarcinoma.
Interventions:
She received chemotherapy of fluorouracil 1600 mg/m, leucovorin 500 mg/m, and irinotecan 100 mg/m every week. During the second cycle of chemotherapy, she developed severe anginal chest pain. We replaced fluorouracil with capecitabine 1500 mg (3 pills) a day every 2 weeks, with 1 week off, with irinotecan 100 mg/m on day 1 and bevacizumab 5 mg/kg at 200 ml/h for 30 min every 2 weeks. She was treated with chemotherapy for approximately 6 months.
Outcomes:
The liver lesion showed a significant response to chemotherapy, so she underwent resection of the liver tumor and rectum. After the surgery, she received radiation therapy to the rectal area, and 3 months of chemotherapy were administered prior to colostomy reversal.
Lessons:
Although the mechanism of fluoropyrimidine-induced cardiotoxicity is still uncertain, our case provides clinical evidence that cardiotoxicity could be a dose-related complication. Reducing the dose of fluoropyrimidine should be considered as a strategy after fluoropyrimidine-induced cardiotoxicity. However, this must be discussed with a multidisciplinary team including oncologists and cardiologists. Close monitoring of serial biomarkers and echocardiography are necessary for early diagnosis of cardiotoxicity.
Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia
Authors: Sourabh Verma, Sheryl Purrier, Emily Breidbart, John G Pappas, Pradeep V Mally, Tara M Randis
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient underwent repair of CDH defect. After an uncomplicated postoperative course while on discharge planning, he developed a seizure episode associated with severe hyponatremia and hyperkalemia. Extensive diagnostic workup revealed an NR0B1 gene variant confirming the diagnosis of X-linked AHC. The patient was eventually discharged home on hydrocortisone, fludrocortisone, and salt supplements. There are a few case reports of adrenal insufficiency in neonates with CDH, manifesting with symptoms before and immediately after reparative surgery. Clinical presentation of our patient was unique in manifesting as neonatal seizure secondary to severe hyponatremia after a stable postoperative phase. The patient's electrolytes and hemodynamic status remained stable before, during, and after surgery for CDH. This case underlines the importance of taking detailed family history and continued vigilance for signs and symptoms of adrenal insufficiency in infants with repaired CDH by pediatricians and intensivists.
Recurrent unicystic ameloblastoma of the infratemporal and temporal fossa
Authors: Sunil Sharma, Dinesh Kumar, Abhishek Vashistha, Urvashi Bihani, Mridula Trehan
Journal: Int J Clin Pediatr Dent (2009)
Keywords: unicystic, ameloblastoma, infratemporal temporal
MeSH terms: Case Reports

The ameloblastoma has been described as benign but locally invasive; benign and locally invasive with strong tendency to recur; and locally malignant. Recurrence of this lesion in to the infratemporal and temporal region are rarely reported cases. Complete excision of lesion was done with the help of the advance imaging modalities and possible cause of recurrence in this case is discussed.
Delayed Tension Pneumocephalus following Gunshot Wound to the Head: A Case Report and Review of the Literature
Authors: Arthur Wang, Elena Solli, Nathan Carberry, Virany Hillard, Adesh Tandon
Journal: Case Rep Surg (2016)

Tension pneumocephalus is a rare complication of head trauma and neurosurgical procedures, amongst other causes. It is defined by the combination of intracranial air, increased intracranial pressure, and mass effect. Although it often presents soon after surgery, it can also rarely present in a delayed fashion. We present a case of delayed tension pneumocephalus, occurring approximately 16 weeks after bifrontal craniectomy for a self-inflicted gunshot wound. Following a month of rhinorrhea, postnasal drip, and cough, the patient presented with a sensation of expansion in the area of the right forehead. As tension pneumocephalus is an emergency that can be fatal, this patient was treated expediently and avoided severe neurological deficits. The case recounted here is important as a demonstrative example that tension pneumocephalus does not always follow a defined course immediately after trauma or neurosurgery but rather can develop insidiously without obvious signs.
Unintended avulsion of hypertrophic adenoids in posterior nasopharynx: a case report of a rare complication caused by nasotracheal intubation
Authors: Hao-Hu Chen, Li-Chuan Chen, Yu-Hui Hsieh, Mao-Kai Chen, Chung-Ho Chen, Kuang-I Cheng
Journal: Case Rep Anesthesiol (2014)

The enlarged adenoid serves as a mechanical obstacle on the nasopharynx to intricate nasotracheal intubation. No matter what video or direct laryngoscopic techniques are applied, nasotracheal tube navigation from the nasal valve area through the nasal cavity to the nasopharynx is always blind; trauma is not uncommon. Here we report a case of unintended avulsed adenoids that plugged the tube tip while the nasotracheal tube blindly navigated through the nasopharyngeal space. After failing to insert a bent tip of gum elastic bougie passing through the nasopharynx, an alternative method of NTI was performed by mounting the nasotracheal tube on a fiberoptic bronchoscope. The nasotracheal tube was successfully railroaded along the insertion tube of the fiberscope to the trachea.
Case Report: Heterogeneity of Resistance Mechanisms in Different Lesions Co-Mediate Acquired Resistance to First-Line Icotinib in EGFR Mutant Non-Small Cell Lung Cancer
Authors: Zhicong Liu, Hui Dong, Wenyan Chen, Bin Wang, Dongxiang Ji, Wei Zhang, Xuefei Shi, Xueren Feng
Journal: Front Med (Lausanne) (2022)
Keywords: alk rearrangement, egfr exon 20 t790m, case report, combination therapy, lung adenocarcinoma, resistance mechanisms
MeSH terms: Case Reports

Epidermal growth factor receptor (EGFR)-activating mutations are major oncogenic mechanisms in non-small cell lung cancer (NSCLC). Most patients with NSCLC with EGFR mutations benefit from targeted therapy with EGFR- tyrosine kinase inhibitors (TKIs). One of the main limitations of targeted therapy is that the tumor response is not durable, with the inevitable development of drug resistance. Previous studies demonstrated that the potential resistance mechanisms are diverse, including the presence of EGFR T790M, MET amplification, mesenchymal transformation, and anaplastic lymphoma kinase (ALK) rearrangement. The patient in our report was diagnosed with stage IA lung adenocarcinoma harboring the EGFR L858R mutation and underwent radical surgery. The patient received icotinib for 12 months after recurrence. Subsequent molecular analysis of the left pleural effusion indicated that LCLAT1-ALK fusion might be an underlying mechanism contributing to the acquired resistance to icotinib. Ensartinib was prescribed, but the lesion in the right lung continued to progress. Hence, a re-biopsy and molecular analysis of lesions in the right lung was performed to solve this problem. In contrast to the left pleural effusion, EGFR exon 20 T790M might have mediated the acquired resistance in lesions in the right lung of this patient. The combination of osimertinib and ensartinib has achieved a rapid partial response until now. The complexity and heterogeneity in our case may provide new insights into the resistance mechanisms of targeted therapy.
Paradoxical approach towards coexistence of hepatic cyst and liver sarcoma: A case report
Authors: Kamleshsingh Shadhu, Dadhija Ramlagun, Jordee Selvamanee Veeramootoo, Jianjie Qin, Yongxiang Xia
Journal: Int J Surg Case Rep (2019)
Keywords: hepatic cyst, liver sarcoma, right upper quadrant pain, surgery

Introduction:
Liver sarcoma is exceedingly rare and is a clinical challenge.
Case report:
A 69-year-old female presented with right upper quadrant pain after a fall. Her CT scan showed multiple cysts. She was initially diagnosed as hepatic cysts with hemorrhage and underwent puncture and drainage of liver cysts. But the cysts relapsed quickly. Then she underwent fenestration of the hepatic cysts. The liver cysts reoccurred again accompanied by massive bleeding and obstructive jaundice. She underwent right trihepatectomy and her final pathological report showed liver sarcoma. However, the hepatic sarcoma reoccurred again. Its' diagnosis and treatment process are extremely complex. In the end, she had a bad ending.
Conclusion:
We believe that timely diagnosis and complete excision of liver sarcoma are very important.
Are we missing non-motor seizures in Parkinson's disease? Two case reports
Authors: Andre Y Son, Alberto Cucca, Shashank Agarwal, Anli Liu, Alessandro Di Rocco, Milton C Biagioni
Journal: J Clin Mov Disord (2017)
Keywords: cognitive changes, non-motor seizures, non-motor symptoms, parkinson’s disease
MeSH terms: Case Reports

Background:
Parkinson's disease (PD) is predominantly recognized for its motor symptoms, but patients struggle from a morbid and heterogeneous collection of non-motor symptoms (NMS-PD) that can affect their quality of life even more. NMS-PD is a rather generalized term and the heterogeneity and non-specific nature of many symptoms poses a clinical challenge when a PD patient presents with non-motor complaints that may not be NMS-PD.
Case presentation:
We report two patients with idiopathic PD who presented with acute episodes of cognitive changes. Structural brain images, cardiovascular and laboratory assessment were unremarkable. Both patients experienced a considerable delay before receiving an epilepsy-evaluation, at which point electroencephalogram abnormalities supported the diagnosis of focal non-motor seizures with alteration of awareness. Antiepileptic therapy was implemented and was effective in both cases.
Conclusions:
Diagnosing non-motor seizures can be challenging. However, PD patients pose an even greater challenge given their eclectic non-motor clinical manifestations and other disease-related complications that could confound and mislead adequate clinical interpretation. Our two cases provide examples of non-motor seizures that may mimic non-motor symptoms of PD. Treating physicians should always consider other possible causes of non-motor symptoms that may coexist in PD patients. Epilepsy work-up should be contemplated in the differential of acute changes in cognition, behavior, or alertness.
Case Report: Defect repair post-resection of cervical tracheal granular cell tumor by cervical anterior banded myofascial flap: A case study and literature review
Authors: Zhu Liu, Zhendong Li
Journal: Front Oncol (2023)
Keywords: fascia tissue flap, granular cell tumor, tracheal membrane, tracheal reconstruction, tumor of the trachea
MeSH terms: Case Reports

Objective:
A case of cervical tracheal granular cell tumor (CTGCT) is reported together with a discussion on the clinical manifestation, diagnosis, and treatment of CTGCT. Additional cases of tumors in the tracheal membrane are also discussed. A simple and viable tracheal reconstruction method was proposed. The research design involves a case report and literature review.
Methods:
Twenty-four case reports on cervical GCT with complete clinical data were identified, with a specific focus on cases involving surgical treatment of tumors in the cervical tracheal membrane.
Results:
Twenty-eight reports of GCT in the cervical trachea and six reports on cervical tracheal membrane tumors were identified. The clinical data of a middle-aged Asian woman with a cervical GCT was also discussed.
Conclusion:
Cervical GCT is a rare disease, and tracheal resection is a reasonable treatment for cervical tracheal GCT. The proposed procedure is a simple and feasible method for reconstruction of the cervical tracheal membrane defect using a double-pedicled banded myofascial flap.
Delayed deep dermal necrosis after jellyfish sting in a 4-year-old female infant
Authors: Diana Desax-Willer, Thomas Krebs, Samuel Christen
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: children, dermal necrosis, jellyfish sting, vacuum assisted wound therapy
MeSH terms: Case Reports

We report the case of a 4-year-old female infant who developed ongoing deep dermal necrosis of the bilateral legs after jellyfish contact in Thailand. Stepwise radical debridement and vacuum assisted wound therapy seemed to be an effective strategy to prevent progressive soft tissue loss.
Same Phenotype in Children with Growth Hormone Deficiency and Resistance
Authors: Irene Ioimo, Carmen Guarracino, Cristina Meazza, Horacio M Domené, Mauro Bozzola
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. The second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulating levels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. These classical cases show the importance of differential diagnosis in children with severe short stature.
Tonsillectomy Improved Therapeutic Response in Anti-SRP Myopathy With Chronic Tonsillitis
Authors: Takuya Ikeda, Hideyuki Takeuchi, Keita Takahashi, Haruko Nakamura, Misako Kunii, Atsuko Katsumoto, Mikiko Tada, Yuichi Higashiyama, Takashi Hibiya, Shigeaki Suzuki, Ichizo Nishino, Shigeru Koyano, Hiroshi Doi, Fumiaki Tanaka
Journal: Front Immunol (2020)
Keywords: iga nephritis, anti-srp myopathy, chronic tonsillitis, intravenous immunoglobulin, tonsillectomy
MeSH terms: Glomerulonephritis, IGA / surgery, Muscular Diseases / surgery, Signal Recognition Particle / immunology, Tonsillectomy, Tonsillitis / surgery, Case Reports, Research Support, Non-U.S. Gov't, Chronic Disease, Female, Glomerulonephritis, IGA / drug therapy, Humans, Immunoglobulins, Intravenous / therapeutic use, Middle Aged, Muscular Diseases / drug therapy, Tonsillitis / drug therapy, Immunoglobulins, Intravenous, Signal Recognition Particle

Chronic tonsillitis has been attracted attention as a source of abnormal immune responses and a possible trigger of autoimmune diseases such as IgA nephritis, IgA vasculitis, palmoplantar pustulosis, psoriasis, rheumatoid arthritis, Behçet's disease, and myositis. Here we present the first report of anti-signal recognition particle antibody-associated necrotizing myopathy (anti-SRP myopathy) with IgA nephropathy and chronic tonsillitis in which the therapeutic response to intravenous immunoglobulin (IVIG) treatment was dramatically improved after tonsillectomy and accompanied by a rapid increase in ΔIgG, defined as the change in serum IgG levels 2 weeks after the start of IVIG treatment relative to pre-treatment levels. Moreover, serum anti-SRP antibody titers became undetectable after tonsillectomy even though the resected tonsils did not produce anti-SRP antibodies. Tonsillectomy should be considered when chronic tonsillitis is observed in patients with autoimmune diseases showing poor response to treatment, including anti-SRP myopathy.
Unusual presentation of gastric perforation by foreign body: a case report
Authors: V S R Rao, R Sarkar, Richard Turner, K R Wedgwood
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Perforation of the gastrointestinal tract by ingested foreign body is rare. The majority of patients do not recall ingestion of the foreign body, and dietary foreign bodies are most commonly involved. We present an interesting case where the offending foreign body gave rise to a diagnostic dilemma masquerading as a pancreatic mass. A high index of suspicion is indicated especially when dealing with atypical presentation and nonspecific symptoms as highlighted in this case.
COVID-19 and Pulmonary Tuberculosis Coinfection in a Moroccan Patient with Pulmonary Embolism: A Case Report and Literature Review
Authors: Imane Zouaki, Zakaria Chahbi, Mohamed Raiteb, Mohamed Zyani
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Emerging cases of coinfection of coronavirus disease 2019 (COVID-19) and tuberculosis (TB), although rare, have attracted the attention of health systems around the world and have arisen many concerns about the diagnosis, treatment, and prognosis of this coinfection especially in high TB burden countries. Here, we report a rare case and, to the best of our knowledge, the first reported case in Morocco of simultaneous diagnosis of an active pulmonary TB infection and a COVID-19 pneumonia. We present a case of a sixty-seven-year-old male patient who was admitted to our COVID-19 emergency department with a diagnosis of COVID-19 pneumonia, confirmed by nasopharyngeal swab's polymerase chain reaction (PCR) for detection of SARS-CoV-2. The atypical radiological findings suggested a TB coinfection which was later confirmed by sputum cultures and Xpert MTB/Rif assay. The patient also presented some complications including thrombosis of the left leg, pulmonary embolism and inaugural ketosis. Treatment was administered as per local protocols: broad spectrum antibiotics, corticosteroids, fixed dose-combination of antituberculosis treatment along with hydration and insulin therapy for ketosis treatment and anticoagulation. The patient was discharged after twenty-three days of hospitalization. Due to the currently limited data, further studies are necessary to establish any possible correlation between COVID-19 infection and the progression of a latent and/or the severity of an active TB infection.
The great masquerader of malignancy: chronic intestinal pseudo-obstruction
Authors: Josephine A Taverna, Hani M Babiker, Seongseok Yun, Maria C Bishop, Sarah Lau-Braunhut, Paul N Meyer, Thomas Enzler
Journal: Biomark Res (2014)
Keywords: anti-hu antibodies, myenteric ganglioneuritis, paraneoplastic chronic intestinal pseudo-obstruction, small cell lung cancer
MeSH terms: Case Reports

Paraneoplastic syndromes can precede the initial manifestation and diagnosis of cancer. Paraneoplastic syndromes are a heterogeneous group of disorders caused by mechanisms other than the local presence of tumor cells. These phenomena are mediated by humoral factors secreted by tumor cells or by tumor mediated immune responses. Among paraneoplastic syndromes, chronic intestinal pseudo-obstruction (CIPO) is rare and represents a particularly difficult clinical challenge. Paraneoplastic CIPO is a highly morbid syndrome characterized by impaired gastrointestinal propulsion with symptoms and signs of mechanical bowel obstruction. Clinical outcomes of paraneoplastic CIPO are often deleterious. The current standard of care for the management of CIPO includes supportive treatment with promotility and anti-secretory agents. However, the majority of patients with CIPO eventually require the resection of the non-functioning gut segment. Here, we present a 62-year-old patient with anti-Hu antibody associated paraneoplastic CIPO and underlying small cell lung cancer who underwent treatment with cisplatin and etoposide. Herein, we discuss diagnosis, prognosis, proposed mechanisms, treatment options, and future potential therapeutic strategies of paraneoplastic CIPO.
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Authors: Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama, Hideshi Kawakami
Journal: BMC Neurol (2014)
MeSH terms: Asian People / genetics, Exome / genetics, Membrane Proteins / genetics, Mitochondrial Proteins / genetics, Mutation / genetics, Spinocerebellar Ataxias / diagnosis, Spinocerebellar Ataxias / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Pedigree, Membrane Proteins, Mitochondrial Proteins, TTC19 protein, human

Background:
Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA.
Method:
The patient is a 37-year-old Japanese woman with consanguineous parents. The head magnetic resonance imaging (MRI) showed cerebellar atrophy and T1 low/T2 high intensity at the bilateral inferior olives. Single-nucleotide polymorphism (SNP) genotyping and next-generation sequencing were performed, and the variants obtained were filtered and prioritized.
Results:
After these manipulations, we identified a homozygous nonsense mutation of the TTC19 gene (p.Q277*). TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be involved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. This report is the first description of a TTC19 mutation in an Asian population. Clinical symptoms and neuroimaging are consistent with previous reports. The head MRI already showed abnormal features four years before her blood lactate and pyruvate levels were elevated.
Conclusions:
We should consider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities. Genes associated with mitochondrial function cause many types of SCAs; the mutation we identified should help to elucidate the pathology of these disorders.