OpenMed/multicare-articles huggingface dataset:
Application of artificial liver in immune-related liver injury induced by immune checkpoint inhibitor: Case reports and review of the literature
Authors: Xuewei Li, Lina Ji, Xiaofang Li, Dong Sun, Wenhui Yang
Journal: Front Immunol (2022)
Keywords: artificial liver, immune, immune checkpoint inhibitors (icis), immune-mediated hepatotoxicity (imh), immune-related adverse events (iraes)
MeSH terms: Drug-Related Side Effects and Adverse Reactions, Liver, Artificial, Neoplasms, Case Reports, Review, Research Support, Non-U.S. Gov't, Humans, Immune Checkpoint Inhibitors / adverse effects, Liver, Immune Checkpoint Inhibitors

The use of immune checkpoint inhibitors (ICIs) can improve survival of patients with malignant tumors, however, the ICI treatment is associated with unpredictable toxicity as immune-related adverse effects (irAEs). Here we report two cases of metastatic malignant gastrointestinal tumors where severe immune-mediated hepatotoxicity (IMH) developed, characterized by liver failure, after the ICI therapy. Through a strong immunosuppressive treatment and a non-biological artificial liver and supportive treatment, the liver function was restored in both cases, and the anti-tumor treatment effect was guaranteed. These results showed that the non-biological artificial liver could be capable of improve prognosis during the ICI therapy.
Follicular Conjunctivitis due to Chlamydia felis-Case Report, Review of the Literature and Improved Molecular Diagnostics
Authors: Juliana Wons, Ralph Meiller, Antonio Bergua, Christian Bogdan, Walter Geißdörfer
Journal: Front Med (Lausanne) (2017)
Keywords: chlamydia felis, chlamydia trachomatis, pcr, cat flu, eye infection, follicular conjunctivitis
MeSH terms: Case Reports

A 29-year-old woman presented with unilateral, chronic follicular conjunctivitis since 6 weeks. While the conjunctival swab taken from the patient's eye was negative in a Chlamydia (C.) trachomatis-specific PCR, C. felis was identified as etiological agent using a pan-Chlamydia TaqMan-PCR followed by sequence analysis. A pet kitten of the patient was found to be the source of infection, as its conjunctival and pharyngeal swabs were also positive for C. felis. The patient was successfully treated with systemic doxycycline. This report, which presents one of the few documented cases of human C. felis infection, illustrates that standard PCR tests are designed to detect the most frequently seen species of a bacterial genus but might fail to be reactive with less common species. We developed a modified pan-Chlamydia/C. felis duplex TaqMan-PCR assay that detects C. felis without the need of subsequent sequencing. The role of chlamydiae-specific serum antibody titers for the diagnosis of follicular conjunctivitis is discussed.
A Syrian Child with Intussusception Caused by a Diffuse Large B-Cell Lymphoma
Authors: Rahaf Toutounji, Ahmad Ghazal, Aghyad Kudra Danial, Bayan Toutounji, Tayf Toutounji
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Intussusception is the invagination of a segment of the bowel into an adjacent segment. Here, we describe a middle-eastern case of an 11-year-old boy who presented to our institution with an intussusception caused by lymphoma but with nonspecific symptoms such as acute abdominal pain and a history of weight loss. His abdominal ultrasound and computed tomography (CT) showed ileocolic intussusception with a mass leading it. We resected the mass with the affected bowel and related lymph nodes, and the histological examination showed features of diffuse large B-cell Non-Hodgkin's lymphoma (an uncommon histologic type in the Middle East). Known as intussusception, this urgent condition could distress infants and young children. However, in older children, the presentation is subtler. So, a lead point should be observed and the chance of malignancy should be kept in mind.
Vision Improvement after Osimertinib Treatment in Paraneoplastic Optic Neuropathy Associated with Lung Adenocarcinoma
Authors: Masaomi Kubota, Nobumasa Tamura, Takaaki Hayashi, Euido Nishijima, Haruhiko Yanagisawa, Akira Kojima, Tadashi Nakano
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Treatments for paraneoplastic optic neuropathy (PON), a tumor-related autoimmune disease, include immunosuppression, plasma exchange, and immunoglobulin therapies, as well as treatment of the underlying disease. Herein, we describe the clinical course of an older adult patient with PON whose loss of vision improved after switching between epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) treatments for cancer. A 76-year-old woman, who had been treated with gefitinib for lung adenocarcinoma for two years, presented with acute bilateral visual disturbances. Her decimal best-corrected visual acuity (BCVA) was 0.3 in the right eye (RE) and 0.7 in the left eye (LE). Slit-lamp examination and funduscopy showed no abnormal findings. Two weeks later, her BCVA decreased to 0.2 in the RE and 0.01 in the LE. Goldman's perimetry showed a defect in the lower nasal RE and extensive visual-field loss in the LE. Single-flash electroretinograms showed normal amplitudes. Magnetic resonance imaging revealed left optic neuritis and showed neither metastatic cancer nor multiple sclerosis. Pattern-reversal visual evoked potentials showed decreased P100 amplitudes in both eyes (BE). Based on a diagnosis of PON from clinical findings, methylprednisolone pulse treatment was administered. However, her BCVA became no light perception in BE two months after the first visit. Because the tumor tissue was found to be positive for the EGFR T790M resistance mutation by bronchoscopy, the EGFR-TKI treatment was changed to osimertinib, decreasing the size of the lung cancer lesions. Her BCVA improved to hand motion in BE. Her final BCVA was 0.01 in the RE, counting fingers 10 cm in the LE. She died at the age of 79 years. To our knowledge, no reports have shown improvement in BCVA in patients with PON after changing EGFR-TKI treatments. This report indicates that some patients may develop severe visual dysfunction without early treatment for the primary tumor.
Case report: Pulmonary arterial hypertension in ENG-related hereditary hemorrhagic telangiectasia
Authors: Dong Liu, Feiya Xu, Qian Gao, Zhenguo Zhai
Journal: Front Cardiovasc Med (2022)
Keywords: eng, exertional dyspnea, hereditary hemorrhagic telangiectasia (hht), pulmonary arterial hypertension, pulmonary hypertension
MeSH terms: Case Reports

A young adult woman presented with exertional dyspnea and she had had recurrent epistaxis for more than 10 years. On physical examination, cyanosis was noted on the lips, and telangiectasias were seen on the oral mucosa and fingertips. Routine investigations revealed iron deficiency anemia and slightly elevated bilirubin. The result of right heart catheterization was indicative of pulmonary arterial hypertension (PAH). Pulmonary angiography showed arteriovenous malformations of the left upper pulmonary artery, and anterior cerebral artery malformation was seen in cranial computed tomographic angiogram. Genetic testing revealed that she and her three daughters carried heterozygous variant of ENG c.1195-1196del p.Arg399GlyfsTer2, which is characterized by pulmonary and cerebral arteriovenous malformations. In addition, our patient had pulmonary hypertension (PH) that is commonly associated with ACVRL1 mutations, revealing her phenotype was not consistent with isolated ENG genetic mutations. Here, we report a case with hereditary hemorrhagic telangiectasia (HHT) combined with PAH, which is associated with interesting differential diagnosis and etiological analysis. We have discussed the relationship between PH and HHT and the characteristics of PAH in HHT patients.
Genetic risk analysis of a patient with fulminant autoimmune type 1 diabetes mellitus secondary to combination ipilimumab and nivolumab immunotherapy
Authors: Jared R Lowe, Daniel J Perry, April K S Salama, Clayton E Mathews, Larry G Moss, Brent A Hanks
Journal: J Immunother Cancer (2016)
Keywords: advanced melanoma, autoimmune endocrinopathy, genetic risk analysis, hla risk allele, ipilimumab, nivolumab, single nucleotide polymorphism, type i diabetes

Background:
Checkpoint inhibitor immunotherapy is becoming an effective treatment modality for an increasing number of malignancies. As a result, autoinflammatory side-effects are also being observed more commonly in the clinic. We are currently unable to predict which patients will develop more severe toxicities associated with these treatment regimens.
Case presentation:
We present a patient with stage IV melanoma that developed rapid onset autoimmune type 1 diabetes (T1D) in response to combination ipilimumab and nivolumab immunotherapy. At the time of the patient's presentation with diabetes ketoacidosis, a confirmed anti-GAD antibody seroconversion was noted. Longer-term follow-up of this patient has demonstrated a durable complete response based on PET CT imaging along with a persistently undetectable C-peptide level. Single nucleotide polymorphism gene sequencing and HLA risk allele analysis has revealed the patient to lack any established genetic predisposition to the development of autoimmune T1D.
Conclusions:
While larger studies are necessary to better understand the role of genetic risk factors for the development of autoimmune toxicities in those patients undergoing checkpoint inhibitor immunotherapy, these results suggest that pre-screening patients for known T1D risk alleles may not be indicated. Additional investigation is needed to determine whether an approach such as T cell receptor clonotypic analysis to identify the presence of autoreactive T cell clones may be an effective approach for predicting which patients are at risk for the development of autoinflammatory toxicities while undergoing checkpoint inhibitor immunotherapy.
Severe Undifferentiated Vasoplegic Shock Refractory to Vasoactive Agents Treated with Methylene Blue
Authors: Farheen Manji, Benjamin Wierstra, Juan Posadas
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Methylene blue is a phenothiazine-related heterocyclic aromatic molecule presently used in the treatment of methemoglobinemia. Recently, it has been implicated in the treatment of severe refractory vasoplegic shock caused by anaphylaxis, sepsis, or postcardiopulmonary bypass. We present a case of a 27-year-old male with profound vasoplegic shock of unknown etiology which was refractory to vasopressors who responded within hours to a single dose of methylene blue. Additionally, we review the evidence of methylene blue's role in the treatment of shock. This case illustrates a diagnostic approach and treatment options in the setting of undifferentiated vasodilatory shock and outlines a new and emerging role for methylene blue in this clinical setting.
A Persistent Solid Pseudopapillary Tumor of the Pancreas: Case Report and Brief Literature Review
Authors: Jin Bao Zhang, Dong Shang, Theresa P Yeo, Shawnna Cannaday, Warren R Maley, Charles J Yeo
Journal: Case Rep Pancreat Cancer (2015)
Keywords: hamoudi tumor, pancreas, pancreatic tumors, solid pseudopapillary neoplasm, solid pseudopapillary tumor
MeSH terms: Case Reports

Background: Solid pseudopapillary tumors (SPTs) of the pancreas are uncommon neoplasms, first reported in 1934, well described by Frantz in 1959, and later further characterized by Hamoudi in 1970. Ninety percent of these tumors occur in young females in their second to third decade of life. An interesting case of a persistent solid pseudopapillary neoplasm is described in this report. Case presentation: A 24-year-old woman from a Middle Eastern country presented with an 8.2 × 7.6 cm heterogeneous-enhancing lesion growing within the uncinate process of the pancreas. She had first experienced symptoms at the age of 12 years. Imaging studies showed that the mass closely abutted the superior mesenteric vein as well as the superior mesenteric artery (SMA). The patient underwent an open cholecystectomy and a classic pancreaticoduodenectomy. During the resection, the SMA was transected due to tumor adherence. The vessel was subsequently reapproximated in an end-to-end manner. On the first postoperative day, thrombosis of the SMA occurred and a bile leak developed. The patient returned to the operating room for SMA embolectomy and for repair of a hepaticojejunostomy leak, with redo of the biliary-enteric anastomosis. Histopathological examination showed solid pseudopapillary-arranged cells and cystic areas, showing strong cellular immunoreactivity for CD56, CD10, vimentin, and β-catenin, and weak diffuse staining for synaptophysin. The tumor stained negative for chromogranin A, trypsin, AE1/AE3, and E-cadherin. Molecular genetic analysis was negative for the MYB gene deletion. At nearly 1 year of follow-up, the patient is well with no evidence of tumor recurrence. Conclusion: SPTs of the pancreas should be included in the differential diagnosis of pancreatic tumors, especially in young women.
Glioblastoma multiforme in the posterior cranial fossa in a patient with neurofibromatosis type I
Authors: Marike L D Broekman, Roelof Risselada, Jooyeon Engelen-Lee, Wim G M Spliet, Bon H Verweij
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Patients with Neurofibromatosis type 1 (NF1) have an increased risk of developing neoplasms. The most common brain tumors, found in 15%-20% of NF1 patients, are hypothalamic-optic gliomas, followed by brainstem and cerebellar pilocytic astrocytomas. These tumors generally have a benign nature. NF1 patients are predisposed to a 5-fold increased incidence of high-grade astrocytomas, which are usually located in supratentorial regions of the brain. We present an NF1 patient who developed a high-grade astrocytoma in the posterior fossa and discuss possible pathophysiological mechanisms.
Flank pain after minor trauma as the initial manifestation of malignant pheochromocytoma; a case report
Authors: Hassan Niroomand, Atoosa Bagheri-Behzad, Eghlim Nemati, Mehrdad Taghipour, Mohsen Motalebi
Journal: J Nephropharmacol (2015)
Keywords: flank pain, hypertension, pheochromocytoma, trauma
MeSH terms: Case Reports

Pheochromocytoma is a tumor which originates from chromaffin cells of the adrenal medulla or the sympathetic ganglia. This tumor secrets a high amount of catecholamine and metabolites, causing hypertension crisis with headache, tachycardia, sweating and flushing (classic triad of pheochromocytoma). However, in some cases the disease may cause atypical symptoms or may be asymptomatic. The presented patient is a 34-year-old man who referred to our clinic with left flank pain. He had a history of falling from height. In the primary physical examination, a large mass in the abdominal left upper quadrant was palpated. After diagnostic evaluation malignant pheochromocytoma was detected. The patient was discharged on the fourth day after surgery. Malignant pheochromocytoma can presented with atypical symptoms or can be asymptomatic.
Accidental Explantation of a Cochlear Implant in a Child Who Developed Cholesteatoma as a Late Complication of Cochlear Implantation
Authors: Wong Kein Low, Wan Ni Pok, Win Nie Ng, Judy Tan
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

Introduction:
Although rare, cholesteatoma can develop as a late complication of cochlear implantation. The electrode array may then be exposed in the external auditory canal surrounded by cholesteatoma debris. Case Report. The cochlear implant of a child was inadvertently explanted by a clinician during a routine aural toilet procedure. The child had previously reported recurrent ear infections, pain, and unexplained implant function degradation. Reimplantation was carried out 2 days later with good postoperative hearing results. Part of the electrode array was observed to be embedded in cholesteatoma. Postreimplantation recovery was complicated by a breakdown of the blind-sac. Discussion. Clinical indicators that could alert the clinician to the possibility of this late complication include recurrent infections, presence of keratotic debris in the external auditory canal, unexplained implant function degradation, and nonauditory stimulation. Although this patient managed to achieve excellent postreimplantation hearing outcomes, a delay in reimplantation surgery following explantation could possibly compromise successful reinsertion of the electrode array. External ear canal overclosure without mastoid cavity obliteration has merit in facilitating CT scan surveillance, but it may increase the risk of the blind-sac breaking down. This case also illustrated how the electrode array could have facilitated propagation of the cholesteatoma from the middle ear to the mastoid.
Conclusion:
If aural toilet is required in the implanted ear of a cochlear implant recipient, any complaint of hearing change, pain, or discharge should alert the clinician of the possibility of cholesteatoma developing. It warrants prompt evaluation by an experienced otologist in order to prevent accidental explantation. Keywords. Cochlear implant, cochlear implant complications, chronic suppurative otitis media, cholesteatoma, reimplantation, blind-sac, external auditory canal overclosure, mastoid cavity obliteration.
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred
Authors: Renan Magalhães Montenegro Jr, Aline Dantas Costa-Riquetto, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Lucas Santos de Santana, Alexander Augusto de Lima Jorge, Lia Beatriz de Azevedo Souza Karbage, Lindenberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Catarina Brasil d'Alva
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: dunnigan, fpld2, lmna, generalized lipodystrophy, partial lipodystrophy, phenotypic heterogen
MeSH terms: Case Reports

Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a generalized lipodystrophy phenotype has also been associated with heterozygous mutations in this gene, demonstrating the noticeable phenotypic heterogeneity of this disease. Methods: We report and describe clinical and metabolic features of four patients from the same family with the p.R582C LMNA mutation, three homozygous and one in the heterozygous state that present with three distinct lipodystrophic phenotypes. Results: Case description: The proband was a 12-year-old girl who developed severe subcutaneous fat atrophy in limbs and abdomen followed by a remarkable dorsocervical fat accumulation in adulthood along with diabetes at age 23. The proband's sister was a phenotypically normal girl who developed hypertriglyceridemia at age 8, progressive features of partial lipodystrophy at age 11, and diabetes at age 22. The proband's mother was first examined at age 32, presenting diabetes and a severe generalized lipodystrophic phenotype; she developed kidney failure at age 41 and died due to diabetic complications. The proband's father was a 50-year-old man with abdominal fat concentration that was initially considered phenotypically normal. Massively parallel sequencing using a platform of genes related to genetic lipodystrophies, followed by Sanger sequencing, revealed the transversion c.1744C>T at exon 11 of the LMNA gene (p.R582C) in the homozygous (mother and daughters) and heterozygous (father) states. Conclusion: We documented three distinct phenotypes of the homozygous and heterozygous p. R582C LMNA mutation in the same kindred, illustrating that FPLD2 linked to mutations in this gene is a disease of great clinical heterogeneity, possibly due to associated environmental or genetic factors.
Successful laparoscopic management of combined traumatic diaphragmatic rupture and abdominal wall hernia: a case report
Authors: Sze Li Siow, Chee Ming Wong, Mark Hardin, Mushtaq Sohail
Journal: J Med Case Rep (2016)
MeSH terms: Abdominal Wall / pathology, Diaphragm / injuries, Hematoma / etiology, Hernia, Diaphragmatic, Traumatic / surgery, Hernia, Ventral / surgery, Laparoscopy / adverse effects, Laparoscopy / methods, Surgical Mesh, Surgical Wound Infection / etiology, Wounds, Nonpenetrating / complications, Case Reports, Accidents, Traffic, Adult, Diaphragm / diagnostic imaging, Drainage / methods, Flank Pain / etiology, Hematoma / microbiology, Hematoma / therapy, Hernia, Diaphragmatic, Traumatic / diagnostic imaging, Hernia, Ventral / etiology, Humans, Male, Polypropylenes, Rupture / etiology, Surgical Wound Infection / therapy, Tomography, X-Ray Computed, Treatment Outcome, Polypropylenes

Background:
Traumatic diaphragmatic rupture and traumatic abdominal wall hernia are two well-described but rare clinical entities associated with blunt thoracoabdominal injuries. To the best of our knowledge, the combination of these two clinical entities as a result of a motor vehicle accident has not been previously reported.
Case presentation:
A 32-year-old Indian man was brought to our emergency department after being involved in a road traffic accident. He described a temporary loss of consciousness and had multiple tender bruises at his right upper anterior abdominal wall and left lumbar region. An initial examination revealed blood pressure of 99/63 mmHg, heart rate of 107 beats/minute, and oxygen saturation of 93 % on room air. His clinical parameters stabilized after initial resuscitation. A computed tomographic scan revealed a rupture of the left diaphragm as well as extensive disruptions of the left upper anterior abdominal wall. We performed exploratory laparoscopic surgery with the intention of primary repair. The diaphragmatic and abdominal wall defect was primarily closed, followed by reinforcement with PROLENE onlay mesh. The patient's postoperative recovery was complicated by infected hematomas over both flanks that were managed with ultrasound-guided percutaneous drainage. He was discharged well despite a prolonged hospital stay.
Conclusions:
We present a complex form of injuries managed successfully via a laparoscopic approach. Meticulous attention to potential complications in both the acute and convalescent phases is important for achieving a successful outcome following surgery.
Neglected Case of Human Balantidiasis: Presumed as Antibiotic-Associated Diarrhoea
Authors: Sreska Shrestha, Priyatam Khadka
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Background:
Balantidiasis, due to its rare human incidence and nonspecific clinical presentations often neglected from the diagnosis considerations; however, a potent pathogen. Herein, we report a case of neglected balantidiasis presumed as antibiotic-associated diarrhoea. Case Presentation. A 27-year-old policeman presented in Sindhuli Hospital, with a chief complaint of epigastric pain, nausea, decreased appetite for several days, and loose stools (3-4 episodes per day). Previously, he was under antibiotic therapy (amoxycillin) for tonsillitis. The health post clinician made a presumptive diagnosis as the side effects of the antibiotics; however, the symptoms were not resolved. Complete blood cell count (CBC) was normal; renal function test (RFT) and liver function (LFT) were within the normal ranges. Ultrasonography of the abdomen and ECG (electrocardiogram) showed normal findings. However, on routine stool actively motile trophozoites of Balantidium coli (B. coli) were seen. He was treated successfully with metronidazole 750 mg tabs orally three times daily for 5 days.
Conclusion:
Protozoal infections, like balantidiasis, might be excluded from the diagnostic consideration in antibiotic-associated diarrhoea cases. Therefore, meticulous review of nonspecific clinical presentation and validation of an etiology with support of diagnostic tests are mandatory.