OpenMed/multicare-articles huggingface dataset:
Case report: Complete response of an anaplastic thyroid carcinoma patient with NRAS Q61R/ BRAF D594N mutations to the triplet of dabrafenib, trametinib and PD-1 antibody
Authors: Lin Gui, Yiming Zhu, Xiaomo Li, Xiaohui He, Tonghui Ma, Yi Cai, Shaoyan Liu
Journal: Front Immunol (2023)
Keywords: braf non-v600e, nras, anaplastic thyroid carcinoma (atc), case report, combination immunotherapy and targeted therapy
MeSH terms: Thyroid Carcinoma, Anaplastic / drug therapy, Thyroid Carcinoma, Anaplastic / genetics, Thyroid Carcinoma, Anaplastic / pathology, Thyroid Neoplasms / drug therapy, Thyroid Neoplasms / genetics, Case Reports, GTP Phosphohydrolases / genetics, Humans, Membrane Proteins / genetics, Mutation, Programmed Cell Death 1 Receptor / genetics, Proto-Oncogene Proteins B-raf / genetics, trametinib, dabrafenib, Proto-Oncogene Proteins B-raf, Programmed Cell Death 1 Receptor, BRAF protein, human, NRAS protein, human, Membrane Proteins, GTP Phosphohydrolases

Anaplastic thyroid carcinoma, BRAF non-V600, NRAS, combination immunotherapy and targeted therapy, case report. Anaplastic thyroid carcinoma (ATC) is a rare type of thyroid cancer with a mortality rate near 100%. BRAF V600 and NRAS mutations are the most common drivers of ATC. While patients with BRAF V600-mutated ATC can be treated with BRAF-targeted therapy, there is no effective treatment for ATC driven by NRAS or non-V600 BRAF mutations. For patients with untargetable driver mutations, immunotherapy provides an alternative treatment option. Here, we present a metastatic ATC patient with PD-L1 positive (tumor proportion score of 60%) tumor and NRAS Q61R/BRAF D594N mutations, who progressed on PD-1 antibody sintilimab plus angiogenesis inhibitor anlotinib. The class 3 BRAF mutant D594N is sensitive to the inhibition of MEK inhibitor trametinib, and its oncogenic activity also depends on CRAF, which can be inhibited by BRAF inhibitor dabrafenib. For these reasons, the patient received a salvage treatment regime of dabrafenib, trametinib, and sintilimab, which resulted in a complete pathological response. To our best knowledge, this is the first report of successful treatment of ATC patients with concurrent NRAS/BRAF non-V600 mutations with the combination of immunotherapy and targeted therapy. Further investigation is required to decipher the mechanism by which the combination of dabrafenib/trametinib with PD-1 antibody overcomes initial immunotherapy resistance likely mediated by concurrent BRAF and NRAS mutations.
Spontaneous Ureterocolic Fistula between Nonfunctioning Kidney Transplant Ureter and Colon in Setting of Diverticulitis
Authors: Madison K Krischak, Jeffrey R Ord, Ashton A Connor, Andrew S Barbas
Journal: Case Rep Transplant (2021)
MeSH terms: Case Reports

Ureterocolic fistula is a rare condition that most commonly occurs in the setting of diverticular disease. The development of a ureterocolic fistula following kidney transplantation is even rarer, with no prior cases in the literature to our knowledge. We describe the case of a patient with three prior failed kidney transplants who developed a fistula between the sigmoid colon and nonfunctioning renal transplant ureter in the setting of diverticulitis.
Case Report: Massive Intestinal Pneumatosis and Pneumoretroperitoneum Following Hematopoietic Stem Cell Transplantation in a 2-Year-Old Child
Authors: Giorgia Contini, Arianna Bertocchini, Roberto Carta, Pietro Merli, Alessandro Inserra, Pietro Bagolan, Francesco Morini
Journal: Front Pediatr (2021)
Keywords: graft versus host disease (gvhd), hematopoietic stem cell transplantation, intestinal pneumatosis, pneumomediastinum, severe combined immunodeficiency
MeSH terms: Case Reports

A 2-year-old boy with severe combined immunodeficiency (SCID) developed intestinal graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation (HSCT), associated with massive intestinal pneumatosis (IP), pneumoretroperitoneum (PRP), and pneumomediastinum. His fair clinical conditions allowed conservative management, with progressive normalization of imaging findings. The patient did not require surgery and is alive and in good clinical conditions at follow-up. In children with GVHD-related IP but good clinical conditions and no signs of peritonitis, IP is not a mandatory indication for surgery, despite its potentially striking imaging features. Conservative management, with intestinal rest, decompression, and antibiotics, often allows regression of the clinical picture.
Charcot neuroarthropathy in simultaneous kidney-pancreas transplantation: report of two cases
Authors: Jorge Javier Del Vecchio, Nicolás Raimondi, Horacio Rivarola, Carlos Autorino
Journal: Diabet Foot Ankle (2013)
Keywords: charcot foot, arthropathy, kidney, neurogenic, pancreas, transplant
MeSH terms: Case Reports

Charcot neuroarthropathy (CN) is considered a major complication in diabetes mellitus (DM), and it is estimated that 1% of diabetic patients may develop this complication. Simultaneous kidney-pancreas transplantation (SKPT) is one of the most effective therapies for patients with type 1 DM and end-stage diabetic nephropathy. Some cases with a Charcot-modified clinical presentation during the postoperative convalescence period after SKPT have been described. The clinical presentation may condition severe destructive lesions, and good practices include systematic follow-up. Based on the cases described, SKPT is one more entity that might lead to CN 'foot-at-risk'. The aim of this article is to describe two cases of neuropathic arthropathy with rapid progression in the short term after SKPT.
Sintilimab, a PD-1 Inhibitor, Completely Reversed Rarely Refractory Hypofibrinogenemia in a Gastric Cancer Patient: A Case Report and Review of the Literature
Authors: Shuzhen Ma, Qi Dang, Yali Yang, Yongliang Liu, Yuping Sun, Meili Sun
Journal: Front Oncol (2020)
Keywords: case report, gastric cancer, hypofibrinogenemia, immunotherapy, sintilimab
MeSH terms: Case Reports

While cancer is often related to hyperfibrinogenemia, it is rarely related to hypofibrinogenemia. Specifically, gastric cancer concomitant with unprovoked hypofibrinogenemia and the corresponding treatment approach have been rarely reported. We presented a case of gastric cancer in a 78-year-old Chinese woman in whom sudden, unprovoked refractory hypofibrinogenemia had been found during the whole brain radiotherapy despite stable clinical condition. Fibrinogen supplementation was not useful for controlling her level of fibrinogen. However, when she received sintilimab, an immunotherapy drug acting as programmed death receptor 1 inhibitor, to treat her gastric cancer, fibrinogen rose to the normal level. We also reviewed the literature to explore the causes of hypofibrinogenemia in tumor patients. This case suggests that we need to pay attention to tumor-related coagulation disorders, and monitoring coagulation indicators is essential. Treating primary disease by immunotherapy drugs may be an important method to improve the level of coagulation factors. This is the first report of sintilimab reversing a rare refractory hypofibrinogenemia in a patient with gastric cancer.
Madura's foot: reasons for the delay in diagnosis and consequences for the management (a case report)
Authors: Baudouin Boanimbek, Youness Aznague, Guedi Omar Abass, Fath El Khir, Mohamed Amine Benhima, Imad Abkari, Halim Saidi
Journal: Pan Afr Med J (2020)
Keywords: madura foot, delayed diagnosis, mycetoma, surgery
MeSH terms: Amputation, Surgical, Foot / surgery, Mycetoma / diagnosis, Case Reports, Delayed Diagnosis, Foot / pathology, Humans, Male, Middle Aged, Morocco, Mycetoma / surgery

Madura foot, relatively easy to diagnose in tropical countries, is very rare and unrecognized in Morocco, causing diagnostic delays. We present the case of a 54-year-old patient with mycetoma for 3 years who initially consulted two general practitioners, then an endocrinologist and finally a dermatologist in order to be diagnosed correctly. The diagnosis of mycetoma based on biological criteria was established at a late stage of irreversible bone lesions; requiring amputation by the orthopedic team. Mycetomas are fungal or bacterial. Delays in diagnosis and care are frequent in Morocco. The diagnosis is based on biology; however, radiological examinations are necessary to assess the extension. The initial treatment is medicinal. Surgery takes place in late stages.
Sporadic urban leptospirosis
Authors: Elena Forouhar, Dimitra Mitsani
Journal: J Community Hosp Intern Med Perspect (2011)
Keywords: baltimore rats, leptospirosis, weil syndrome, urban
MeSH terms: Case Reports

Severe leptospirosis (Weil Syndrome) was diagnosed in an otherwise healthy environmental worker in Baltimore alleys in late November 2010. He developed multiple organ failure but responded to antibiotic therapy and experienced a full recovery within 4 weeks. His diagnosis was confirmed by a rise in indirect hemagglutinin titer (acute 0, convalescent 400). The subject had close contact with Baltimore alley rats; a similar epidemiologic exposure and location reported in an outbreak 15 years ago.
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
Authors: Kazuki Nemoto, Toshinori Kawanami, Takayuki Hoshina, Masataka Ishimura, Kei Yamasaki, Satoshi Okada, Hirokazu Kanegane, Kazuhiro Yatera, Koichi Kusuhara
Journal: Front Immunol (2020)
Keywords: stat1 gain-of-function mutation, bone marrow (bm), disseminated cryptococcosis, hypogammaglobulinemia, impaired b-cell differentiation
MeSH terms: B-Lymphocytes / cytology, B-Lymphocytes / metabolism, Cell Differentiation / genetics, Cell Differentiation / immunology, Gain of Function Mutation, STAT1 Transcription Factor / genetics, STAT1 Transcription Factor / metabolism, Case Reports, Adult, Agammaglobulinemia / diagnosis, Agammaglobulinemia / etiology, Agammaglobulinemia / metabolism, B-Lymphocytes / immunology, Biomarkers, Bone Marrow / metabolism, Bone Marrow / pathology, Cytokines / metabolism, Humans, Immunophenotyping, Male, T-Lymphocyte Subsets / immunology, T-Lymphocyte Subsets / metabolism, Tomography, X-Ray Computed, Biomarkers, Cytokines, STAT1 Transcription Factor, STAT1 protein, human

Hypogammaglobulinemia is a rare complication of STAT1 gain-of-function (GOF) mutations. We report an adult patient diagnosed with hypogammaglobulinemia caused by B-cell depletion during the treatment of disseminated cryptococcosis. The patient carried the STAT1 GOF mutation (c.820C>T, p.R274W). The flow cytometric analysis of his bone marrow revealed that B-cell differentiation was blocked in the stages between pre-B1b and pre-B2 cells. On the other hand, his brother who carried the same mutation displayed normal B-cell counts, thereby indicating that the unrecognized variants in same or other gene might be associated with abnormal B-cell differentiation in the patients. In conclusion, impaired B-cell differentiation in the bone marrow can cause hypogammaglobulinemia in patients with STAT1 GOF mutations.
A large thyroglossal duct cyst and its management: a case report
Authors: Athanasios Luca Fountarlis, Petros Koltsidopoulos, Jiannis Hajiioannou, Vasileios Lachanas, Nick Kalogritsas, Efthymios Solomi, Charalampos Skoulakis
Journal: Pan Afr Med J (2023)
Keywords: sistrunk’s procedure, thyroglossal duct cyst, aspiration biopsy, case report, complications
MeSH terms: Goiter, Thyroglossal Cyst / pathology, Case Reports, Adult, Dyspnea, Humans, Male, Neck / pathology

Thyroglossal duct cysts (TGDC) are congenital neck cysts, formed as a result of the failure of the thyroglossal duct to involute during embryogenesis and their mean size is 1.5-2.4 cm. We present a case of a 44-year-old male who presented with a history of a large anterior neck mass measuring 8.7x6x6.4 cm and causing dysphagia and mild dyspnea. After being mistaken for a goiter, a clinical diagnosis of TGDC was made based on history, clinical and radiographic findings. The patient was treated with Sistrunk's procedure. No recurrence was noted on follow-up. Thyroglossal duct cysts are generally well-defined small lesions, but even bigger ones are not linked with severe symptomatology. The larger size at presentation may increase the list of potential diagnoses and lead to diagnostic dilemmas. Every effort should be made to rule out malignancy before surgery. Sistrunk's procedure with dissection of the posterior hyoid space should be the standard of care.
Fluctuation of spuriously elevated troponin I: a case report
Authors: Sam Ghali, Keith Lewis, Viviane Kazan, Neezam Altorok, Jamil Taji, Mohammad Taleb, Kiranmayee Lanka, Ragheb Assaly
Journal: Case Rep Crit Care (2012)
MeSH terms: Case Reports

Serum troponin is a useful laboratory study for the diagnosis of acute myocardial infarction. However, elevations can also be seen in a variety of other diseases processes. Falsely positive troponin values caused by interference with current troponin assays have been reported. We report a unique case that demonstrates the fluctuation of falsely elevated troponin correlating with hemoglobin, serving as a marker of heterophile antibody levels. A 74-year-old gentleman presented to our Emergency Department with a several-day history of increasing shortness of breath associated with a new-onset chest pain and a troponin I level of 77.28 ng/mL. Throughout his stay, fluctuations in measured troponin levels correlated strongly with fluctuations in hemoglobin levels. Several investigations confirmed false elevated troponin levels secondary to heterophile antibody interference. We conclude that hemoglobin trending in our patient represented a surrogate measure of his heterophile antibody titers with time and that fluctuations in these levels correlated with respective fluctuations in the falsely elevated troponin levels.
Concomitant Idiopathic Intracranial Hypertension, Normal Pressure Hydrocephalus, and Pleomorphic Xanthoastrocytoma: A Case Report and Review of the Literature
Authors: Modhi Alhussinan, Turki Elarjani, Mohammed Jawharri, Mohammed Albrahim, Faisal Farrash
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Background:
Idiopathic intracranial hypertension (IIH) and normal pressure hydrocephalus (NPH) are disorders of the cerebrospinal fluid (CSF) flow dynamics. Pleomorphic xanthoastrocytoma (PXA) is a rare low-grade astrocytoma (World Health Organization grade II) representing <1% of astrocytomas. Combination of IIH and NPH with PXA is unheard of, with few published cases discussing the association of CNS tumors with either IIH or NPH, but never combined. We present a case of a 51-year-old woman with such a rare combination. Case Presentation. A fifty-one-year-old obese female presented with a progressive visual loss, abducens nerve palsy, and headache for three months. Further investigations revealed a right frontal tumor and ventriculomegaly on magnetic resonance imaging. Her symptoms improved remarkably after total surgical excision of the tumor with a ventriculoperitoneal (VP) shunt.
Conclusion:
The pathophysiology behind NPH and IIH is still not fully understood, yet their management is mostly dependent on CSF diversion. The concomitant development of two different CSF dynamic diseases with a PXA has not been reported in the literature. We hypothesize that PXA may have sparked an abnormal CSF circulation pattern and ventriculomegaly.
Non diagnosed PAPVC induce large reverse venovenous shunt after modified Fontan surgery: A case report of a rare anomaly and embolization therapy
Authors: Zahra Alizadeh Sani, Abdolrahim Ghasemi, Shabnam Mohammadzadeh, Zahra Khajali, Mohaddeseh Behjati, Roohallah Alizadehsani, Abbas Khosravi, Saeid Nahavandi, Sheikh Mohammed Shariful Islam
Journal: J Cardiovasc Thorac Res (2021)
Keywords: cardiac magnetic resonance imaging, fontan, venovenous collateral
MeSH terms: Case Reports

Fontan operation is a reliable palliative surgery for patients with single ventricle physiology. Still, the development of complication is common; one of these complications that need to interventional approach is veno-venous collaterals between systemic and pulmonary veins. A 16-yearoldgirl with a history of modified Fontan operation at 9 years ago was referred with progressive cyanosis and dyspnea on exertion. In contrast trans-thoracic echocardiography (TTE), no fenestration was seen in Fontan circulation. Cardiac magnetic resonance revealed partial anomalous pulmonary vein connection (PAPVC) from left upper pulmonary vein to vertical vein and then into the in nominate vein and SVC with the reverse flow from superior vena cava (SVC) to left upper pulmonary vein(LUPV). This anomalous vein became severe engorged and tortuous. Possibly, LUPV and the verticalvein was dilated gradually as a result of increased pressure in the Fontan circuit. Finally, she underwent successful coil embolization in the midpart of the vertical vein. The oxygen saturation increased from80% to 93%.
Acute Myocardial Infarction due to Coronary Artery Embolism in a Patient with Mechanical Aortic Valve Prosthesis
Authors: Marcelo A Nakazone, Bruno G Tavares, Maurício N Machado, Lilia N Maia
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Previous cases of coronary embolism as a cause of myocardial infarction (MI) in association with prosthetic mechanical valves have been reported, but the fact that the patient was not aware of the importance of maintaining anticoagulation therapy is relevant in this case. A 16-year-old female was referred for primary coronary intervention due to subacute anterolateral ST elevation MI, after she decided to discontinue warfarin therapy three weeks before. Coronary angiography showed distal occlusion of the left anterior descending coronary artery with an image suggesting embolic material. Conventional echocardiography demonstrated akinesia of anteroseptal, inferior, and posterior segments of the left ventricle, with severe systolic dysfunction, beyond the intraventricular thrombus. The presence of mechanic aortic prosthesis and no anticoagulation therapy are highly suggestive of coronary embolism as the cause of MI. This case report confirms that patient education is vital in our struggle to prevent this complication in high-risk patients.
Conjunctival cystectomy assisted by pattern scan laser photocoagulation
Authors: Hee Kyung Yang, Moosang Kim, Seung-Jun Lee, Sang Beom Han, Joon Young Hyon, Won Ryang Wee
Journal: Mil Med Res (2017)
Keywords: conjunctival cyst, laser, pascal photocoagulation
MeSH terms: Conjunctiva / surgery, Cysts / surgery, Case Reports, Research Support, Non-U.S. Gov't, Cysts / physiopathology, Female, Humans, Laser Coagulation / methods, Middle Aged, Recurrence

Background:
To introduce a new technique of laser-assisted conjunctival cystectomy using pattern scan laser (PASCAL) photocoagulation.
Case presentation:
A 50-years-old Asian woman presented with a conjunctival cyst in the left eye. Slit-lamp examination revealed a 5 mm × 2 mm sized freely movable conjunctival cyst. After a 1 mm × 1 mm sized conjunctival opening was made using PASCAL photocoagulation, the cyst was extracted using a non-toothed forceps without rupture. Two weeks later, complete re-epithelialization of the conjunctiva was observed without any complications. No evidence of recurrence was noted over the 6-month follow-up period.
Conclusion:
Conjunctival cystectomy with the adjunctive use of PASCAL photocoagulation can be an effective and safe treatment method.
Laparoscopic splenectomy in a child with moyamoya syndrome, hereditary spherocytosis, and interstitial lung disease: a mere coincidence or partnership based on genetic similarities
Authors: Kasra Karvandian, Zahid Hussain Khan, Jayran Zebardast, Sayed Rohollah Miri
Journal: Case Rep Anesthesiol (2011)
MeSH terms: Case Reports

A case of moyamoya syndrome and spherocytosis with concurrent interstitial lung disease who underwent laparoscopic splenectomy is being reported. A theory regarding their coexistence is being forwarded together with their anesthetic management. According to our search, this is the fourth case of moyamoya syndrome and the first case with an associated interstitial lung disease in a 10-year-old child.
Fatal Postoperative Candida glabrata Septicemia in a Child with Congenital Heart Disease
Authors: Vasant Baradkar, Shripad Taklikar, Simit Kumar
Journal: J Glob Infect Dis (2009)
Keywords: candida glabrata, congenital heart disease, septicemia
MeSH terms: Case Reports

The incidence of candidemia has been reported to be high in some cardiovascular surgery units. Congenital heart disease has been considered a risk factor for acquisition of candidemia. This present case is a postoperative Candida glabrata in a child with congenital heart disease. A 3-year-old child, a previously diagnosed case of situs-solitus D loop situs with double outlet right ventricle, ventricular septal defect, pulmonary stenosis and large ostium secundum atrial septal defect, was admitted with history of effort intolerance. A left modified Blalock-Taussig shunt was performed and then the child underwent closure of the ventricular septal defect and the atrial septal defect. On the third day the patient developed fever. Klebsiella pneumoniae was isolated from blood which responded to piperacillin + tazobactam but on the twelfth day, the patient again developed fever spikes. The blood cultures performed at this time showed repeated isolation of Candida glabrata. Amphotericin B was started but still the patient deteriorated and died on the 22(nd) day after operation. The antifungal susceptibility of the isolate performed showed that the isolate was resistant to Amphotericin B.
A Case of Multiple Intratumoral Hemorrhage and Rupture of Hepatocellular Carcinoma after Starting Lenvatinib
Authors: Katsutoshi Ishihara
Journal: Case Reports Hepatol (2020)
MeSH terms: Case Reports

A man in his 80s was administered lenvatinib to treat multiple hepatocellular carcinomas. After starting lenvatinib, he was admitted to our hospital for fever and epigastric tenderness. Conjunctival icterus and conjunctival pallor were observed. Computed tomography showed high density areas in his tumors which were suggestive of intratumoral hemorrhage and tumor rupture. As a result, the patient underwent an emergent angiography and arterial embolization.
Next-Generation Sequencing for the Diagnosis of Challenging Culture-Negative Endocarditis
Authors: Manon Kolb, Vladimir Lazarevic, Stéphane Emonet, Alexandra Calmy, Myriam Girard, Nadia Gaïa, Yannick Charretier, Abdessalam Cherkaoui, Peter Keller, Christoph Huber, Jacques Schrenzel
Journal: Front Med (Lausanne) (2019)
Keywords: cardiobacterium hominis, clinical metagenomics, culture-negative endocarditis, diagnosis, next-generation sequencing
MeSH terms: Case Reports

Diagnosis of culture-negative infective endocarditis usually implies indirect pathogen identification by serologic or molecular techniques. Clinical metagenomics, relying on next-generation sequencing (NGS) is an emerging approach that allows pathogen identification in challenging situations, as evidenced by a clinical case. We sequenced the DNA extracted from the surgically-removed frozen valve tissue from a patient with suspected infective endocarditis with negative blood and valve cultures. Mapping of the sequence reads against reference genomic sequences, a 16S rRNA gene database and clade-specific marker genes suggested an infection caused by Cardiobacterium hominis.