OpenMed/multicare-articles huggingface dataset:
A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma: Case Report
Authors: Francesca Consoli, Gianluca Barbieri, Matteo Picciolini, Daniela Medicina, Mattia Bugatti, Valeria Tovazzi, Barbara Liserre, Claudia Zambelli, Fausto Zorzi, Alfredo Berruti, Emanuele Giurisato, William Vermi
Journal: Front Oncol (2020)
Keywords: braf, braf inhibitors, mek inhibitors, ngs, metastatic melanoma, mutation
MeSH terms: Case Reports

BRAF is one of the most common mutated kinases detected in human cancer, particularly in cases of primary cutaneous melanomas (PCM). Mutations of the BRAF proto-oncogene, at the p.V600 codon, has been detected in more than 50% of primary and metastatic melanoma cells in clinical samples. In addition to the most frequent BRAF p.V600E mutation, corresponding to the single base pair substitution c.1799T>A, rarer mutations, within and outside the V600 codon, have been described. Expectedly, BRAF and MEK inhibitors (or their combination) have been poorly explored as potential therapeutic strategies in metastatic melanomas harboring this rare mutation. By using a set of sequencing techniques and immunohistochemistry, this work reports the genomic and clinical features of two melanoma patients showing a rare complex mutation affecting codon V600 and K601 of the BRAF gene, leading to a V600E2; K601I change. Specifically, these two patients show a distinct clinical behavior and significantly differ in their responses to BRAF and MEK inhibitors. Indeed, although this treatment has proven to be effective and safe in both cases, the observed variability between the two patients resulted as a direct consequence of the baseline extent of brain involvement, intracranial treatment failure as well as on the PTEN status.
Primary cutaneous melanoma arising in a long-standing irradiated keloid
Authors: Lindsay M Fish, Lisa Duncan, Keith D Gray, John L Bell, James M Lewis
Journal: Case Rep Surg (2012)
MeSH terms: Case Reports

Ionizing radiation has been used therapeutically for a variety of clinical conditions, including treatment of hypertrophic keloids. Keloids may rarely be associated with malignancy, but the use of low-dose ionizing radiation is associated with an increased risk of cutaneous malignancies. We describe a case in which a primary desmoplastic melanoma arose in a long-standing, previously irradiated keloid.
Interstitial pneumonia in a glassblower: think to chronic beryllium disease!
Authors: Amira Jamoussi, Takoua Merhabene, Mona Mlika, Henda Neji, Faouzi El Mezni, Jalila Ben Khelil, Mohamed Besbes
Journal: Pan Afr Med J (2018)
Keywords: lung toxicity, chronic beryllium disease, glassblower, interstitial pneumonia
MeSH terms: Berylliosis / diagnosis, Lung Diseases, Interstitial / diagnosis, Occupational Diseases / diagnosis, Occupational Exposure / adverse effects, Case Reports, Adult, Berylliosis / physiopathology, Beryllium / toxicity, Chronic Disease, Humans, Lung Diseases, Interstitial / etiology, Male, Occupational Diseases / physiopathology, Beryllium

Chronic beryllium disease (CBD) is an occupational illness with varying severity. In this report, we describe a 27 year old man, glassblower, who developed a fatal CBD after six months of unknown Beryllium's exposure. The diagnosis was suspected on histological examination and then consolidated by confirmation of Beryllium's exposure at the working area. Physicians should be aware of the potential risk to develop CBD in glassblowers. These workers should benefit from early medical surveillance using the Beryllium lymphocyte proliferation test (BeLPT) and therefore from suitable management.
An Uncommon Ventricular Tachycardia due to Inactive PPM Lead
Authors: Goutam Datta, A Sarkar, A Haque
Journal: ISRN Cardiol (2011)
MeSH terms: Case Reports

Our patient had recurrent syncope due to ventricular tachycardia (VT) after one year of VVI Pacemaker implantation. He had pacemaker pocket infection for which new pacemaker was implanted on opposite side but old lead was not explanted completely. Flouroscopy showed redundant loop of old lead in right ventricular inflow which was snared out subsequently. He never had syncope or VT after that.
Case Report: Diffuse Large B Cell Lymphoma After Cardiac Transplantation due to Anthracycline-Induced Dilated Cardiomyopathy in Pediatric Acute Lymphoblastic Leukemia
Authors: Ning Xin, Cao Chunyan, Zhou You, Peng Lu, Jin Runming, Zhou Fen
Journal: Front Pharmacol (2022)
Keywords: anthracycline-induced cardiotoxicity, cardiac transplantation, childhood acute lymphoblastic leukemia, diffuse large b cell lymphoma, dilated cardiomyopathy
MeSH terms: Case Reports

Anthracycline is a first-line chemotherapy drug used to treat childhood acute leukemia, which may cause cardiac toxicity including common arrhythmia, valve disease, pericardial effusion, and even rare cardiomyopathy and cardiac failure. We reported a 2-year-old boy who was treated irregularly for acute lymphoblastic leukemia with daunorubicin. After 26 months, his left ventricular ejection fraction decreased to 40% and progressively decreased to 20-30%. Then he successfully received a heart transplant and the myocardium was confirmed with dilated cardiomyopathy. Eight months after cardiac transplantation, he was admitted again for left neck mass and was diagnosed with monomorphic diffuse large B cell lymphoma associated with Epstein-Barr virus infection by biopsy. We present this case to highlight the importance of standard chemotherapy of daunorubicin, clinical prevention, and monitoring of anthracycline-induced cardiotoxicity in acute lymphoblastic leukemia children to ensure their good prognosis and long-term life quality.
Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease
Authors: Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Introduction:
Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency, respectively.
Case presentation:
A 12-day-old male infant was presented with poor milk intake and lethargy. The diagnosis of MSUD was made based on clinical and biochemical data.
Management and outcome:
Specific dietary restriction of BCAAs was given. Subsequently, natural protein was stopped as the patient developed hospital-acquired infections which resulted in an elevation of BCAAs. Acrodermatitis dysmetabolica developed and was confirmed to be from isoleucine deficiency. At the age of 6 months, the patient developed severe lethargy and was on natural protein exclusion for an extended period. Despite enteral supplementation of zinc sulfate, cutaneous manifestations due to zinc deficiency occurred.
Discussion:
Skin lesions in MSUD patients could arise from multiple causes. Nutritional deficiency including isoleucine and zinc deficiencies can occur and could complicate the treatment course as a result of malabsorption, even while on enteral supplementation. Parenteral nutrition should be considered and initiated accordingly. Clinical status, as well as BCAA levels, should be closely monitored in MSUD patients.
Delayed Femoral Nerve Palsy Associated with Iliopsoas Hematoma after Primary Total Hip Arthroplasty
Authors: Sandeep Kumar, Gerald Pflueger
Journal: Case Rep Orthop (2016)

Femoral nerve neuropathy after total hip arthroplasty is rare but catastrophic complication. Pain and quadriceps muscle weakness caused by this complication can significantly affect the functional outcome. Here we present a case report, describing delayed onset femoral nerve palsy associated with iliopsoas hematoma following pseudoaneurysm of a branch of profunda femoris artery after 3 months of primary total hip arthroplasty in an 80-year-old female patient with single kidney. Hip arthroplasty was done for painful primary osteoarthritis of left hip. Diagnosis of femoral nerve palsy was made by clinical examination and computed tomography imaging of pelvis. Patient was managed by surgical evacuation of hematoma and physiotherapy. The patient's clinical symptoms were improved after surgical evacuation of hematoma. This is the first case report of its kind in English literature regarding delayed onset femoral nerve palsy after primary total hip arthroplasty due to pseudoaneurysm of a branch of profunda femoris artery without any obvious precipitating factor.
Enteric duplication cyst located at the posterior tongue: a rare case report and review of the literature
Authors: Bircan Savran, Cuneyt Kucur, Cengiz Kocak, Isa Ozbay, Mehmet Huseyin Metineren, Yasin Tugrul Karakus
Journal: Case Rep Otolaryngol (2015)

The lingual localization of an enteric duplication is extremely rare but may present with respiratory and feeding problems that require emergency intervention. A 7-month-old boy was brought to our clinic with feeding difficulties and tongue swelling. Physical examination showed a cystic lesion located near the left side of the tongue base that caused tongue protrusion to the contralateral side. During surgery, a 3-cm diameter opaque thick-walled cyst was found to be very closely adherent to the base of tongue, which was excised in its entirety. Following surgery, the patient fed during the early postoperative period and no complications were observed other than hypersalivation. On histological examination, a cystic lesion lined with intestinal mucosa and goblet cells was found. We present the rare case of a duplication cyst of the posterior tongue, with a literature review.
Salutary Response to Targeted Therapy in Anaplastic Thyroid Cancer
Authors: Sasan Fazeli, Edina Paal, Jessica H Maxwell, Kenneth D Burman, Eric S Nylen, Shikha G Khosla
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: braf v600e, braf inhibitor, cdk4 mutation, ezh2 mutation, anaplastic thyroid cancer, mitogen-activated extracellular protein kinase inhibitor (mek inhibitor), targeted therapy
MeSH terms: CDC2 Protein Kinase / genetics, Enhancer of Zeste Homolog 2 Protein / genetics, Molecular Targeted Therapy, Proto-Oncogene Proteins B-raf / genetics, Thyroid Carcinoma, Anaplastic / genetics, Thyroid Neoplasms / genetics, Case Reports, Aged, Autopsy, CDC2 Protein Kinase / antagonists & inhibitors, Enhancer of Zeste Homolog 2 Protein / antagonists & inhibitors, Fatal Outcome, Humans, Imidazoles, Male, Mutation, Oximes, Positron Emission Tomography Computed Tomography, Protein Kinase Inhibitors / therapeutic use, Proto-Oncogene Proteins B-raf / antagonists & inhibitors, Pyridones, Pyrimidinones, Thyroid Carcinoma, Anaplastic / drug therapy, Thyroid Neoplasms / drug therapy, Imidazoles, Oximes, Protein Kinase Inhibitors, Pyridones, Pyrimidinones, trametinib, EZH2 protein, human, Enhancer of Zeste Homolog 2 Protein, BRAF protein, human, Proto-Oncogene Proteins B-raf, CDC2 Protein Kinase, CDK1 protein, human, dabrafenib

Context. Anaplastic thyroid cancer (ATC) is an aggressive tumor with a median survival of 3 to 9 months, a 1-year survival of less than 10% and without definitive therapies. Recently, in BRAF V600E mutated ATCs, new targeted therapy using a combination of a BRAF inhibitor, dabrafenib (Dab), with a mitogen-activated extracellular protein kinase (MEK) inhibitor, trametinib (Tram), has shown significant promise. Case Description. We report a case of aggressive ATC with 5 sequence mutations: BRAF V600E (mutation fraction [MF] 34%), TERT E441del (MF 37%), RET N579K (MF 55%), EZH2 D154E (MF 60%), and CDK4 S259L (MF 48%). The patient had a dramatic response to the Dab/Tram combination with near complete resolution of his lung, bone, hepatic, and splenic lesions soon after starting therapy. Unfortunately, intolerable side effects (grade 2-3) on this regimen required tapering and discontinuation of the treatment. He had a quick resurgence of disease after stopping the combination therapy. The patient died approximately 3 months after discontinuing Dab/Tram. Autopsy revealed an atrophic thyroid gland with microscopic subcapsular focus of well-differentiated papillary thyroid carcinoma. There was extensive lymphatic spread of the tumor throughout bilateral lungs with fibrosis. No other metastatic site was identified. Conclusion. We report a unique case of ATC with 2 new mutations of EZH2 D154E and CDK S529L. This case exemplifies the significant promise Dab/Tram therapy holds, the potential side effects that limit their use, and autopsy findings status post use of this combination therapy.
Cystic degeneration of neuro endocrine tumor of pancreas and Crohn's disease: true or coincidental association?
Authors: Mohamed Hedfi, Imed Abbasi, Chibani Intissar, Ammar Salwa, Adnen Chouchen
Journal: Pan Afr Med J (2016)
Keywords: crohn´s disease, cystic neoplasms, inflammatory bowel disease, pancreatic endocrine tumours
MeSH terms: Crohn Disease / complications, Neuroendocrine Tumors / pathology, Pancreatic Cyst / pathology, Pancreatic Neoplasms / pathology, Case Reports, Crohn Disease / physiopathology, Humans, Male, Middle Aged, Neuroendocrine Tumors / etiology, Neuroendocrine Tumors / surgery, Pancreatectomy / methods, Pancreatic Cyst / etiology, Pancreatic Cyst / surgery, Pancreatic Neoplasms / etiology, Pancreatic Neoplasms / surgery

Pancreatic endocrine tumors (PETs) or islet cell tumors are rare lesions, the incidence of which is estimated to be less than 1 per 100,000 person-years in the general population. PETs can be divided into functional (exhibit a distinct clinical syndrome due to hormone hypersecretion) and non-functional tumors. The majority of PETs are non-functional. In spite of their rarity, cystic neoplasms of the pancreas are characterized by existing or potential malignancy that cannot be ignored during decisive process with regard to the choice of treatment. The purpose of this workis to find an association with Crohn's disease and cystic degeneration of a neuroendocrine tumor of the pancreas. Crohn's disease may affect extraintestinal organs, including the pancreas. In such cases, It seems certain that many patients diagnosed with Crohn disease (CD) are predisposed to a wider spectrum of cancers. We present a case of pancreatic cyst with no typical features of pseudocyst in the medical interview, with history of Crohn's disease, treated by caudal pancreatectomy. We tried to evaluate the clinical and morphological features of so-called cystic neoplasms associated with inflammatory bowel disease and to define their pathological characteristics.
Diffuse Alveolar Hemorrhage in Systemic Lupus Erythematosus: Histopathologic Features and Clinical Correlations
Authors: Robert Ta, Romulo Celli, A Brian West
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

The case of a 16-year-old African-American girl with systemic lupus erythematosus, who developed diffuse alveolar hemorrhage with fatal consequences, is described. Diffuse alveolar hemorrhage is a rare but serious complication of systemic lupus. It occurs in three distinct but overlapping phenotypes, acute capillaritis, bland pulmonary hemorrhage, and diffuse alveolar damage, each of which is associated with a different group of underlying conditions. Diffuse alveolar hemorrhage is a medical emergency: choice of treatment depends on early diagnosis and determination of the underlying etiology. Acute infection, superimposed on diffuse alveolar hemorrhage in the setting of immune compromise, is often a terminal event, as in this case.
Septal rupture with right ventricular wall dissection after myocardial infarction
Authors: Carlos J Soriano, José L Pérez-Boscá, Sergio Canovas, Francisco Ridocci, Pau Federico, Ildefonso Echanove, Rafael Paya
Journal: Cardiovasc Ultrasound (2005)
MeSH terms: Heart Ventricles / diagnostic imaging, Myocardial Infarction / complications, Myocardial Infarction / diagnostic imaging, Ventricular Septal Rupture / diagnostic imaging, Ventricular Septal Rupture / etiology, Case Reports, Heart Ventricles / surgery, Humans, Male, Middle Aged, Myocardial Infarction / surgery, Treatment Outcome, Ultrasonography, Ventricular Septal Rupture / surgery

Background:
In patients with inferior myocardial infarction, septal rupture generally involves basal inferoposterior septum, and the communicating tract between left and right ventricle is often serpiginous with a variable degree of right ventricular wall extension. Right ventricular wall dissection following septal rupture related with previous myocardial infarction has been reported in a very few cases, in many of them this condition has been diagnosed in post-mortem studies. In a recent report long-term survival has been achieved after promptly echocardiographic diagnosis and surgical repair.
Case presentation:
We present a case of a 59-year-old man who had a septal rupture with right ventricular wall dissection after inferior and right ventricular myocardial infarction. Transthoracic echocardiography, as first line examination, established the diagnosis, and prompt surgical repair allowed long-term survival in our patient.
Conclusion:
Outcomes after right ventricular intramyocardial dissection following septal rupture related to myocardial infarction has been reported to be dismal. Early recognition of this complication using transthoracic echocardiography at patient bedside, and prompt surgical repair are the main factors to achieve long-term survival in these patients.
Selective use of percutaneous testis biopsy to optimize IVF-ICSI outcomes: a case series
Authors: Russell P Hayden, Diane L Wright, Thomas L Toth, Cigdem Tanrikut
Journal: Fertil Res Pract (2016)
Keywords: icsi, ivf, kartagener syndrome, male factor infertility, tese

Background:
Sperm quality may degrade during transit through the male reproductive tract in some individuals. In this setting surgically retrieved testicular sperm may outperform ejaculated samples for use with in vitro fertilization (IVF) and intracytoplasmic sperm injection (IVF-ICSI). We sought to describe one center's experience with the use of fresh testicular sperm after prior failed IVF-ICSI with ejaculated samples.
Results:
A retrospective review was conducted evaluating IVF-ICSI cycles performed at a tertiary IVF unit between 2009 and 2014. Couples who were managed with percutaneous testis biopsy to obtain sperm, despite availability of ejaculated sperm, were included. Four couples who underwent a total of 6 percutaneous testis biopsy/IVF-ICSI cycles were identified. Collectively, the couples had undergone 9 prior IVF-ICSI cycles using fresh ejaculated sperm without successful pregnancy. From the six cycles that used fresh testicular sperm four live births resulted (1 twin gestation, 3 singletons). Only 1 of the 4 couples remained childless.
Conclusions:
For patients who have had prior failed IVF-ICSI attempts, this small case series demonstrates a possible therapeutic benefit when freshly procured testicular sperm are used in lieu of ejaculated samples.
Mucinous Ovarian Tumors With Anaplastic Mural Nodules: Case Report
Authors: Xinxin Zou, Hao Huang, Qingyu Zhang, Zhen Ma, Yumei Chen, Weifeng Wu, Aizhen Fu
Journal: Front Med (Lausanne) (2021)
Keywords: anaplasia, carcinoma, mucinous ovarian tumors, mural nodules, ovarian cancer
MeSH terms: Case Reports

Ovarian mucinous cystic tumors may be associated with various types of mural nodules, which can be classified as benign or malignant (anaplastic carcinoma, sarcoma, carcinosarcoma). However, anaplastic malignant nodules have rarely been reported. Here, we present a case of a 35-year-old woman who presented with abdominal discomfort. Ultrasonography showed a large cystic mass in the pelvic and abdominal cavities measuring 337 × 242 mm. Abdominal computed tomography revealed upper anterior and posterior uterine pelvic cystic lesions based on multiple nodule partition walls and classes. During hospitalization, the patient underwent exploratory laparotomy, which revealed a poorly differentiated ovarian malignant tumor, and subsequent surgical excision was performed. The pathological analysis of the surgical samples of the right ovary revealed a mucinous ovarian tumor, while the mural nodules were classified as anaplastic carcinoma. After surgery, the patient started receiving chemotherapy. Unfortunately, the patient died 6 months later. Mucinous tumor occurring with an anaplastic carcinoma is rare, and the current diagnostic methods are not sufficient in providing an early and accurate diagnosis. Most patients are already in the advanced stage upon diagnosis and combined with poorly differentiated pathological features, the prognosis is extremely poor. Clinicians need to improve the clinical evaluation before surgery and conduct preoperative preparation and communication to improve the prognosis of patients as much as possible.
A Novel DPYD Variant Associated With Severe Toxicity of Fluoropyrimidines: Role of Pre-emptive DPYD Genotype Screening
Authors: Chi C Tong, Ching W Lam, Ka O Lam, Victor H F Lee, Mai-Yee Luk
Journal: Front Oncol (2018)
Keywords: dpyd variant, fluoropyrimidines, novel, pharmacogenetics, precision medicine
MeSH terms: Case Reports

Background: The fluoropyrimidine anticancer drug, especially 5- fluorouracil (5-FU) and its prodrug capecitabine are still being the backbone of chemotherapeutic regimens for colorectal cancer. Dihydropyrimidine dehydrogenase (DPD) is the crucial enzyme in the catabolism of 5-FU. Over the past 30 years, there is substantial clinical evidence showing that DPD deficiency is strongly associated with severe and fatal fluoropyrimidine-induced toxicity. Patients and methods: A 49-year-old lady with resected stage III carcinoma of sigmoid colon was scheduled to have a course of 5-FU based adjuvant chemotherapy. She developed unexpected acute severe (grade 4) toxicity after the first cycle of chemotherapy. Genomic DNA was isolated from 3 ml peripheral blood cells for full sequencing of DPYD (the gene encoding DPD). Results: Exome sequencing confirmed that she is heterozygous for NM_000110.3: c.321+2T>C of the DPYD gene. To the best of our knowledge, this variant is a novel pathogenic splicing variant of the DPYD gene resulting in a non-functional allele. As she has a heterozygous genotype and considered having decreased DPD activity, we followed the international recommendation and restart chemotherapy with at least 50% reduction for 5-FU dose. We then titrated the 5-FU dose, and she tolerated the subsequent cycles of chemotherapy and completed the whole course of adjuvant chemotherapy. Conclusions: With a pre-emptive test on DPD deficiency before the administration of the fluoropyrimidine drugs, the aforementioned patient's life-threatening event could be avoided. This clinical utility has been confirmed by two recent large-scale studies and called for a drug label update.
Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality
Authors: Gioconda Manassero-Morales, Denisse Alvarez-Manassero, Alfredo Merino-Luna
Journal: Case Rep Pediatr (2016)

Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.