OpenMed/multicare-articles huggingface dataset:
Case report: Major pathologic response induced by neoadjuvant treatment using BRAF and MEK inhibitors in a patient with stage IIIA lung adenocarcinoma harboring BRAF V600E-mutation
Authors: Chaoyuan Liu, Min Lu, Yang Yang, Xiang Wang, Fang Ma, Xianling Liu
Journal: Front Oncol (2022)
Keywords: braf v600e mutation, lung cancer, major pathologic response, neoadjuvant, targeted therapy
MeSH terms: Case Reports

Targeted therapy has achieved great success in advanced non-small lung cancer (NSCLC) with driver genes, and neoadjuvant-targeted therapy is increasingly being investigated. Although neoadjuvant-targeted therapy with EGFR-TKI and ALK-TKI showed good efficacy, there is no report of neoadjuvant-targeted therapy to BRAF V600E mutation on NSCLC so far. Here, we report the first case of a successful neoadjuvant-targeted therapy with BRAF and MEK inhibitors followed by radical surgical excision with major pathologic response (MPR) in a patient with stage IIIA lung adenocarcinoma (LUAD) harboring BRAF V600E mutation. The case informs us that targeted therapy with BRAF and MEK inhibitors could be administrated as a neoadjuvant strategy for selected cases of NSCLC harboring BRAF V600E mutation.
Thrombotic Thrombocytopenic Purpura Associated with Pazopanib
Authors: Umer Syed, Kramer J Wahlberg, Daniel R Douce, Julian R Sprague
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

A 76-year-old male with metastatic renal carcinoma on day 24 of pazopanib was admitted with complaints of emesis, confusion, and hematuria. Laboratory testing showed acute kidney injury, hyperbilirubinemia, and thrombocytopenia. Scattered schistocytes were seen on peripheral smear, and he was diagnosed with thrombotic microangiopathy (TMA). He was started on daily, one-volume plasma exchange with rapid improvement in thrombocytopenia. ADAMTS13 activity returned as undetectably low with no inhibitor detected. After cessation of plasmapheresis, repeat ADAMTS13 activity returned as normal. Unfortunately, his platelet count started to downtrend within four days after developing septicemia thought to be due to a catheter-associated infection. He was placed on comfort care measures after discussion with his family. An autopsy listed the major cause of death as metastatic renal cell carcinoma. According to two separate systematic reviews, there have been no cases of proven drug-induced TMA where decreased ADAMTS13 activity was the identified mechanism. While pazopanib is also associated with TMA, this unique case suggests a novel potential mechanism for TMA associated with pazopanib and brings forth "drug-induced thrombotic thrombocytopenic purpura" that quickly responds to plasmapheresis as a possible new diagnostic entity requiring prompt recognition and treatment.
Talar body fracture combined with medial malleolar fracture: a case report and literature review
Authors: Kamal Lahrach, Khalid Ibn El Kadi, Amine Marzouki, Fawzi Boutayeb
Journal: Pan Afr Med J (2019)
Keywords: talar body, medial malleolus, osteosynthesis, sagittal fracture
MeSH terms: Ankle Fractures / pathology, Fractures, Bone / pathology, Talus / injuries, Case Reports, Review, Accidents, Traffic, Ankle Fractures / etiology, Ankle Fractures / surgery, Fracture Fixation, Internal / methods, Fractures, Bone / etiology, Fractures, Bone / surgery, Humans, Male, Middle Aged, Talus / pathology, Talus / surgery

Fracture of the talar body is rare, it reaches articular congruence and determines the ankle's functional prognosis. The authors report a case of a combination of a sagittal talar body fracture with fracture of the medial malleolus in a 52-year-old following a road traffic accident. The association talus body fracture with a medial malleolus fracture is exceptional. Stable internal fixation can yield good functional results.
Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient with CHEK2 mutation
Authors: Abraham Ipe, Anne Angiolillo, David Jacobsohn, Jinjun Cheng, Miriam Bornhorst, Joyce Turner, Anant Vatsayan
Journal: Front Pediatr (2023)
Keywords: b-all, car-t, chek2 mutation, mds, tisagenlecleucel
MeSH terms: Case Reports

Background:
Germline Checkpoint Kinase 2 gene (CHEK2) mutations can increase the risk of solid tumors. Recently, they have been identified as risk factors for hematologic malignancies. However, to the best of our knowledge, B-acute lymphoblastic leukemia (B-ALL) has never been described as a presenting manifestation of germline CHEK2 mutation. Chimeric antigen receptor-T (CAR-T) cell therapy directed against CD19 antigen (tisagenlecleucel) is a novel cellular therapy for treatment of relapsed/refractory (R/R) B-ALL. The use of tisagenlecleucel has not been described in patients with CHEK2 mutation.
Case presentation:
We describe a case of a pediatric patient with a heterozygous pathogenic germline CHEK2 mutation (c.1100delC; p.Thr367Metfs*15) successfully treated with tisagenlecleucel for relapsed B-ALL to avoid hematopoietic cell transplant (HCT). The twelve-year-old boy was diagnosed with National Cancer Institute (NCI) high-risk B-ALL (white blood cell count >50,000/mcL), with no extramedullary disease. Cytogenetic analysis revealed normal karyotype but fluorescent in situ hybridization (FISH) showed 93% positivity for CRLF2::P2RY8 rearrangement. He was treated as per Children's Oncology Group (COG) AALL1131 therapy and achieved a complete remission. Seven months after diagnosis, he was found to have papillary thyroid carcinoma with no evidence of metastatic disease. The patient underwent a total thyroidectomy with central lymph node biopsy and radioactive iodine therapy. The patient's biological mother and fraternal twin brother carry the same germline CHEK2 mutation with no history of malignancy. The biological father tested negative for the familial mutation. The patient's genetic panel also identified three variants of unclear significance: CDKN2A (c.37 °C > T; p.Arg124Cys), FLCN (c.62G > A; p.Cys21Tyr) and SDHAF2 (c.139A > G; p.Met47Val). Extended family history also revealed a diagnosis of anaplastic thyroid cancer in maternal uncle at the age of 44 years. Fifteen months after diagnosis the patient had a relapse of B-ALL (both medullary and extramedullary with blasts in CSF), which was successfully treated with tisagenlecleucel. The patient remains in remission 3 years after receiving tisagenlecleucel.
Conclusion:
As conventional chemotherapy and radiation can potentially increase the risk of DNA damage and development of secondary malignancies, CD19 CAR-T therapy (tisagenlecleucel) can be used as a substitute for intensive re-induction chemotherapy and HCT in patients with a germline CHEK2 mutation.
Severe lactic acidosis and acute renal failure following ingestion of metformin and kerosene oil: a case report
Authors: Amila Rathnapala, Thushara Matthias, Saroj Jayasinghe
Journal: J Med Case Rep (2012)

Introduction:
Kerosene is a freely accessible hydrocarbon used in Sri Lankan (and other Asian) households for cooking and for lighting lamps. Kerosene poisoning is rarely reported among adults and its toxicological effects are not well known. Metformin is a commonly used oral hypoglycemic drug and its overdose leads primarily to lactic acidosis. Combined poisoning of metformin and kerosene and their interactions have not been reported.
Case presentation:
An 18-year-old, previously healthy, unmarried Sinhalese woman was referred following ingestion of 17.5 g of metformin and approximately 200 mL of kerosene oil in a suicide attempt. She had vomiting, burning epigastric pain, and a hypoglycemic seizure (capillary blood glucose of 42 mg/dL). Subsequently, she developed severe lactic acidosis followed by acute renal insufficiency, was treated with sodium bicarbonate, and underwent intermittent hemodialysis with bicarbonate. She recovered completely.
Conclusions:
This report proposes possible interactions that occur between metformin and kerosene that augment toxicity when the two are ingested together. It also stresses the importance of early treatment with intermittent hemodialysis in severe lactic acidosis with maintenance of blood glucose.
Case Report: Bow Hunter's Syndrome Caused by Compression of Extracranially Originated Posterior Inferior Cerebellar Artery
Authors: Noriya Enomoto, Kenji Yagi, Shunji Matsubara, Masaaki Uno
Journal: Front Neurol (2021)
Keywords: bow hunter's syndrome, persistent first intersegmental artery, posterior decompression, posterior inferior cerebellar artery, surgery
MeSH terms: Case Reports

Bow hunter's syndrome (BHS) is most commonly caused by compression of the vertebral artery (VA). It has not been known to occur due to an extracranially originated posterior inferior cerebellar artery (PICA), the first case of which we present herein. A 71-year-old man presented with reproducible dizziness on leftward head rotation, indicative of BHS. On radiographic examination, the bilateral VAs merged into the basilar artery, and the left VA was predominant. The right PICA originated extracranially from the right VA at the atlas-axis level and ran vertically into the spinal canal. During the head rotation that induced dizziness, the right PICA was occluded, and a VA stenosis was revealed. Occlusion of the PICA was considered to be the primary cause of the dizziness. The patient underwent surgery to decompress the right PICA and VA via a posterior cervical approach. Following surgery, the patient's dizziness disappeared, and the stenotic change at the right VA and PICA improved. The PICA could be a causative artery for BHS when it originates extracranially at the atlas-axis level, and posterior decompression is an effective way to treat it.
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
Authors: Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak
Journal: Front Genet (2023)
Keywords: cdc42, takenouchi-kosaki syndrome, antibody deficiency, c191a>g variant, macrothrombocytopenia, neurodevelopmental delay
MeSH terms: Case Reports

The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcription activation, and reactive oxygen species production. The Cdc42 molecule controls various tissue-specific functional pathways underpinning organogenesis as well as developmental integration of the hematopoietic and immune systems. Heterozygous c.191A>G (p.Tyr64Cys) pathogenic variants in CDC42 cause Takenouchi-Kosaki syndrome characterized by a spectrum of phenotypic features comprising psychomotor developmental delay, sensorineural hearing loss, growth retardation, facial dysmorphism, cardiovascular and urinary tract malformations, camptodactyly, accompanied by thrombocytopenia and immunodeficiency of variable degree. Herein, we report a pediatric patient with the Takenouchi-Kosaki syndrome due to a heterozygous p.Tyr64Cys variant in CDC42 manifesting as a congenital malformation complex accompanied by macrothrombocytopenia, poor specific antibody response, B and T cell immunodeficiency, and low serum immunoglobulin A level. We also suggst that feeding disorders, malnutrition, and a gastrointestinal infection could be a part of the phenotypic characteristics of Takenouchi-Kosaki syndrome supporting the hypothesis of immune dysregulation and systemic inflammation occurring in the p.Tyr64Cys variant in CDC42.
Case Report: Eculizumab and ECMO Rescue Therapy of Severe ARDS in Goodpasture Syndrome
Authors: Michael Sobotta, Onnen Moerer, Oliver Gross
Journal: Front Med (Lausanne) (2021)
Keywords: ards, ecmo-therapy, goodpasture syndrome, anti-gbm disease, eculizumab, lung failure, type iv collagen, vasculitis
MeSH terms: Case Reports

Introduction: Goodpasture's syndrome is a life-threatening autoimmune type IV collagen disease characterized by the presence anti-glomerular basement membrane antibodies, rapid progressive glomerulonephritis and/or pulmonary hemorrhage. Methods: Here, we describe new therapeutic options, which take recent advances in unraveling Goodpasture's pathogenesis into account. Results: In a 17-year old male, severe Goodpasture's syndrome resulted in acute respiratory distress syndrome (ARDS). Within 1 day after hospital admission, the patient required extracorporeal membrane oxygenation (ECMO). Despite steroid-pulse and plasmapheresis, ARDS further deteriorated. Eleven days after admission, the patient was in a pre-final stage. At last, we decided to block the complement-driven lung damage by Eculizumab. Three days after, lung-failure has stabilized in a way allowing us to initiate Cyclophosphamide-therapy. As mechanical ventilation further triggers Goodpasture-epitope exposure, the patient was taken from pressure support - breathing spontaneously by the help of maintaining ECMO therapy. After a total of 24 days, ECMO could be stopped and pulmonary function further recovered. Conclusions: In conclusion, our findings suggest that life-threatening organ-damage in Goodpasture's syndrome can be halted by Eculizumab as well as by lung-protective early withdrawal from pressure support by the help of ECMO. Both therapeutic options serve as new tools in otherwise hopeless situations to prevent further organ-damage and to gain time until the established immunosuppressive therapy works in otherwise lethal autoimmune-diseases.
Replaceable Jejunal Feeding Tubes in Severely Ill Children
Authors: Tabea Pang, Sergio B Sesia, Stefan Holland-Cunz, Johannes Mayr
Journal: Gastroenterol Res Pract (2017)

Long-term enteral nutrition in chronically ill, malnourished children represents a clinical challenge if adequate feeding via nasogastric or gastrostomy tubes fails. We evaluated the usefulness and complications of a new type of surgical jejunostomy that allows for easier positioning and replacement of the jejunal feeding tube in children. We surgically inserted replaceable jejunal feeding tubes (RJFT) connected to a guide thread which exited through a separate tiny opening of the abdominal wall. In a retrospective case series, we assessed the effectiveness and complications of this technique in severely ill children suffering from malnutrition and complex disorders. Three surgical complications occurred, and these were addressed by reoperation. Four children died from their severe chronic disorders within the study period. The RJFT permitted continuous enteral feeding and facilitated easy replacement of the tube. After the postoperative period, jejunal feeding by RJFT resulted in adequate weight gain. This feeding access represents an option for children in whom sufficient enteral nutrition by nasogastric tubes or gastrostomy proved impossible. Further studies are required to investigate the safety and effectiveness of this surgical technique in a larger case series.
Septic Infrapatellar Bursitis in an Immunocompromised Female
Authors: Kenneth Herring, Seth Mathern, Morteza Khodaee
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Bursitis is a relatively common occurrence that may be caused by traumatic, inflammatory, or infectious processes. Septic bursitis most commonly affects the olecranon and prepatellar bursae. Staphylococcus aureus accounts for 80% of all septic bursitis, and most cases affect men and are associated with preceding trauma. We present a case of an 86-year-old female with an atypical septic bursitis involving the infrapatellar bursa. Not only are there very few reported cases of septic infrapatellar bursitis, but also this patient's case is particularly unusual in that she is a female with no preceding trauma who had Pseudomonas aeruginosa on aspirate. The case also highlights the diagnostic workup of septic bursitis through imaging modalities and aspiration. This patient had full resolution of her septic bursitis with appropriate IV antibiotics.
Intravenous γ Globulin for Intractable Abdominal Pain due to IgA Vasculitis
Authors: George Naifa, George Totikidis, Sonia Alexiadou, Christina Kolona, Elpis Mantadakis
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

IgA vasculitis (formerly known as Henoch-Schönlein purpura or anaphylactoid purpura) is a usually benign vasculitis that affects children of school age. The disease is characterized by the tetrad of palpable purpura, arthralgia/arthritis, abdominal pain, and hematuria. Treatment of IgA vasculitis is mainly supportive, with administration of simple analgesics. Corticosteroids have been shown to reduce and/or ameliorate the occurrence of abdominal pain which may be severe. We present two children with IgA vasculitis and severe abdominal pain despite corticosteroid administration, who responded promptly to intravenous γ globulin (IVIg) with complete resolution of their symptoms and review of the relevant medical literature. Given the toxicity and/or need for long-term administration of other second-line immunosuppressive therapies in corticosteroid-resistant IgA vasculitis, such as rituximab, cyclosporine, cyclophosphamide, azathioprine, or colchicine, we propose that IVIg may be a useful and safe treatment option, although randomized controlled clinical trials are needed in order to clarify its role in the treatment of abdominal pain in IgA vasculitis.
An adult patient with Henoch-Schönlein purpura and non-occlusive mesenteric ischemia
Authors: Chiyako Oshikata, Naomi Tsurikisawa, Masakazu Takigawa, Tomoko Omori, Satoshi Sugano, Takahiro Tsuburai, Hiroyuki Mitomi, Tamiko Takemura, Kazuo Akiyama
Journal: BMC Res Notes (2013)
MeSH terms: IgA Vasculitis / complications, Ischemia / complications, Vascular Diseases / complications, Case Reports, Aged, Humans, IgA Vasculitis / diagnostic imaging, Ischemia / diagnostic imaging, Male, Mesenteric Ischemia, Tomography, X-Ray Computed, Vascular Diseases / diagnostic imaging

Background:
Onset of Henoch-Schönlein purpura (HSP) in middle age is uncommon, and adults with renal or gastrointestinal involvement present with more severe disease than do similar pediatric patients.
Case presentation:
We present the case of a 69-year-old male with HSP who, after treatment with steroids, cyclophosphamide, and continuous intravenous prostaglandin E1 (PGE1), died as a result of severe gastrointestinal involvement with non-occlusive mesenteric ischemia (NOMI). Vascular narrowing associated with the NOMI improved after catheter injection of PGE1 and prednisolone, but the patient died of bleeding from an exposed small vessel. At autopsy there was no active vasculitis in the jejunal submucosa.
Conclusion:
Treatment with PGE1 and prednisolone might improve small-vessel vasculitis associated with NOMI.
Uncommon presentation of craniospinal tuberculosis
Authors: Mohammed Abdulrabu, Ebrahim Ebrahim, Akram Warki, Ahmed Alsotuhy, Shahzad Anjum
Journal: Qatar Med J (2021)
Keywords: craniospinal tuberculosis, uncommon presentation
MeSH terms: Case Reports

Tuberculosis (TB) is a bacterial infection with multisystem presentations. Involvement of the central nervous system (CNS) is considered the most lethal form among all types. In addition to possible fatality, CNS TB has serious neurological sequelae. These morbidity issues along with diagnostic challenges doubles the clinical burden. In recent years, there have been improvements in diagnostic sensitivity and specificity due to advances in technology. Herein, we report an atypical case of a patient with TB who presented to our department and discuss the flow of the diagnostic workup.
Undiagnosed HIV Presenting with Lymphoid Interstitial Pneumonitis
Authors: Jason J Rizqallah, Christopher T Shah, Oladoyin Oluwole, John N Sheagren
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

Undiagnosed or untreated human immunodeficiency virus infection can lead to devastating complications. We present a case of a 41-year-old woman who was found to have HIV-related lymphoid interstitial pneumonitis. LIP is uncommon, and its presentation can be quite similar to that of other chronic lung conditions. This case illustrates one of the possible protean manifestations of untreated HIV and is a sobering reminder of the need to screen all adults for HIV infection. Additionally, further invasive diagnostic testing may be required to guide therapy in patients with advanced acquired immune deficiency syndrome. This patient's LIP was likely related to long-standing unrecognized HIV disease.
Novel three-sinus enlargement technique for supravalvular aortic stenosis without aortic transection
Authors: Shinya Yokoyama, Hisao Nagato, Yuichi Yoshida, Shigeo Nagasaka, Kozo Kaneda, Noboru Nishiwaki
Journal: J Cardiothorac Surg (2016)
MeSH terms: Aorta / surgery, Aortic Stenosis, Supravalvular / surgery, Sinus of Valsalva / surgery, Case Reports, Aortic Stenosis, Supravalvular / diagnosis, Humans, Infant, Male

Background:
Although repair of a supravalvular aortic stenosis (SVAS) can be performed with low mortality rates, surgery for the complex form of SVAS continues to be associated with a high incidence of residual stenosis.
Case presentation:
The patient was referred to our hospital at 1 month of age and was diagnosed with aortic valve stenosis (AS) by using echocardiography. Cardiac catheterization revealed moderate AS, and subsequent left ventriculography revealed discrete stenosis of the sino-tubular junction and a narrowed proximal ascending aorta. We performed a reconstructive operation for such heart defects involving novel three-sinus and ascending aorta enlargement without aortic root transection in a 6-month-old boy.
Conclusion:
Our novel three-sinus enlargement technique is suitable for treating each type of SVAS and is a useful method for a baby particularly less than 10 kg without disturbing the growth of the ascending aorta.
Monomorphic Ventricular Tachycardia as a Presentation of Giant Cell Myocarditis
Authors: Michael H Chiu, Cvetan Trpkov, Saman Rezazedeh, Derek S Chew
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Background:
Idiopathic giant cell myocarditis (GCM) has a fulminant course and typically presents in middle-aged adults with acute heart failure or ventricular arrhythmia. It is a rare disorder which involves T lymphocyte-mediated myocardial inflammation. Diagnosis is challenging and requires a high index of suspicion since therapy may improve an otherwise uniformly fatal prognosis.
Case summary:
A previously healthy 54-year-old female presented with hemodynamically significant ventricular arrhythmia (VA) and was found to have severe left ventricular dysfunction. Cardiac MRI demonstrated acute myocarditis, and endomyocardial biopsy showed giant cell myocarditis. She was treated with combined immunosuppressive therapy as well as guideline-directed medical therapy. A secondary prevention implantable cardioverter defibrillator (ICD) was implanted.
Discussion:
GCM is a rare, lethal myocarditis subtype but is potentially treatable. Combined immunosuppression may achieve partial clinical remission in two-thirds of patients. VA is common, and patients should undergo ICD implantation. More research is needed to better understand this complex disease.
Learning objectives:
Giant cell myocarditis is an incompletely understood, rare cause of myocarditis. Patients present predominately with heart failure and dysrhythmia. Diagnosis is confirmed by histopathology, and immunosuppression may improve outcomes. ICD implantation should be considered. In the absence of treatment, prognosis is poor with a median survival of three months.