OpenMed/multicare-articles huggingface dataset:
KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia
Authors: Marta Lopes, Maria Dos Anjos Teixeira, Cláudia Casais, Vanessa Mesquita, Patrícia Seabra, Renata Cabral, José Palla-García, Catarina Lau, João Rodrigues, Maria Jara-Acevedo, Inês Freitas, Jose Ramón Vizcaíno, Jorge Coutinho, Luis Escribano, Alberto Orfao, Margarida Lima
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Introduction:
Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML).
Case report:
A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184 μg/L). The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2-CD25+ MC. The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT). The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT.
Conclusions:
This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.
Topiramate intoxications & hemodialysis - Literature review and the first case report of a massive suicidal intoxication treated with hemodialysis
Authors: Tim Schutte, Anne van Tellingen, Janneke van den Broek, Marloes Ten Brink, Marleen G van Agtmael-Boerrigter
Journal: Toxicol Rep (2022)
Keywords: dialysis, hemodialysis, topiramate intoxications
MeSH terms: Case Reports

Background:
Topiramate is an anticonvulsant from sulfamate-substituted monosaccharides that is increasingly used to treat migraines. Serious topiramate intoxications have been described. Unfortunately, indications for and the effect of interventions, including hemodialysis, in severe intoxications seem expert-based and lack empirical evidence. We aim to review the literature on topiramate intoxication cases and to describe the first topiramate intoxication with toxicokinetic data following treatment with hemodialysis.
Methods:
A literature review was conducted using the PubMed database. Included articles were reviewed for symptoms; management, including acute hemodialysis; toxicokinetic data; and outcomes.
Results:
We found 61 hits in the PubMed database and checked 392 references in the snowball search; 22 were included for data extraction, reporting 29 cases. The majority of the patients were female (n = 23/29, 79%), ranging in age from 2 to 44 years (median 21). The ingested topiramate amount ranged from 175 to 40,000 mg (usual maintenance dose of 50 mg BID and a general maximum of 500 mg BID). Topiramate concentrations were reported in eight cases, ranging from 3.7 to 356.6 mg/L (for reference, the therapeutic range is 2-30 mg/L). Serious topiramate intoxications can result in seizures, coma, hemodynamic instability and severe metabolic acidosis. In no single case was hemodialysis used.
Conclusion:
Serious symptoms of topiramate intoxications exist, and hemodialysis is used infrequently. If symptoms are refractory to symptomatic treatment, hemodialysis can reduce topiramate concentrations and symptomatology.
Atraumatic Gluteal Compartment Syndrome Presenting in a Young Female with Unilateral Lower Extremity Symptoms
Authors: Morgan Maxon, Curt Cackovic
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

Gluteal compartment syndrome is a rare condition that often develops following immobilization either secondary to illicit drug and alcohol abuse or improper surgical positioning. A case of a 22-year-old female with left lower extremity pain, weakness, and numbness after prolonged stasis from a night of drug and alcohol use is presented. She also complained of left low back pain. Her initial neurologic examination was significant for decreased deep tendon reflexes, decreased motor strength, and decreased sensation in the left lower extremity. Severe pain in the affected region persisted despite several attempts at pain control utilizing multiple modalities. An emergent MRI of the lumbar spine revealed gluteal compartment syndrome. The patient ultimately underwent emergent fasciotomy with resultant improvement in neurologic symptoms. Because presenting symptoms are frequently nonspecific in initial stages, gluteal compartment syndrome is often misdiagnosed. This can lead to unnecessary morbidity and mortality. It is important to maintain a high index of suspicion for gluteal compartment syndrome because delay in diagnosis can lead to nerve palsy, acute kidney injury, sepsis, and/or death.
Rapidly Progressive Pulmonary Apical Fibrosis and Parenchymal Destruction in a Patient with Ankylosing Spondylitis
Authors: Hasan Ulusoy, Nazmiye Tibel Tuna, Aslı Tanrivermis Sayit
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Pulmonary apical fibrosis is a rare complication of ankylosing spondylitis (AS). The essential characteristics of this lesion are its very slow progression and frequently asymptomatic nature. Herein, we are presenting a patient with AS who rapidly developed pulmonary apical fibrosis in a 3-year period despite decreased musculoskeletal pains. The 60-year-old male applied with complaints of progressively increasing cough in the recent two years, dyspnea, and fatigue. He had no chronic disease except AS. He had no continuous medication except nonsteroid anti-inflammatory drugs for 2-3 days monthly since his musculoskeletal pains decreased in the recent years. His physical examination revealed reduced breath sounds in the upper zones of the right lung. Chest X-ray revealed increased diffuse opacity in the upper zones of the right lung. Thoracic high-resolution computed tomography showed a consolidation accompanied with traction bronchiectases compatible with chronic fibrosis in the upper lobe of the right lung. However, thoracic computed tomography of the patient performed 3 years ago did not reveal pulmonary apical fibrosis and parenchymal destruction. Biopsy revealed no finding of malignancy, granulomatous inflammation, or vasculitis. The results of cultures were negative. So, the patient was diagnosed as pulmonary involvement of AS, which developed in a 3-year period. This case has shown that extra-articular complications may continue to develop in patients with AS even if their musculoskeletal complaints have subsided. So, patients with AS should be followed up regularly with systemic examinations.
Case report of a criminal dismemberment in Northeast Brazil
Authors: Evelyne Pessoa Soriano, Maria do Socorro Dantas de Araújo, Francisca de Assis Nascimento Pereira, Francisca Divina Silveira de Melo, Cristiane Helena da Silva Barbosa Freire, Marcus Vitor Diniz de Carvalho
Journal: Forensic Sci Res (2022)
Keywords: forensic sciences, dismemberment, forensic anthropology, human identification
MeSH terms: Case Reports

Several decomposed body parts were received for examination by the Forensic Anthropology section of the Medico-legal Institute of João Pessoa, Paraíba, Brazil. The portions of the lower and upper limbs, ribs, vertebrae, and a skull were thoroughly examined. The biological profile indicated a male individual with an estimated age range between 23 and 57 years and a mean age of 35.2 years (SD = 9.4; phase IV, Suchey-Brooks). The skeleton showed injuries caused by sharp force and sharp-blunt force trauma that affected all body segments. Macroscopically, the lesions are mainly in the diaphyseal segments of the long bones, sacrum, pelvis, mandible, maxilla, scapulae, sternum, vertebrae, the distal epiphysis of the left fibula, and the distal epiphysis of the left tibia displayed characteristics compatible with injuries produced perimortem. It was not possible to determine the cause of death. DNA analysis resulted in a positive identification. Because of common difficulties faced in forensic practice, it is often not possible for forensic anthropologists to go to the crime scene, X-ray or body scanners are frequently unavailable, and the victim's medical and/or dental records are sometimes absent. These difficulties make identification ultimately depend on genetic analysis, which is more time-consuming than other identification methods. Despite this, bone fragment examination in dismemberment cases is a complex task. Forensic Anthropology can shed light on cases involving the identification of dismembered remains, which are challenging because of the number of traumatic injuries, as well as different injury patterns, on bones.
Primary malignant pericardial mesothelioma presenting with cardiac tamponade
Authors: Shigefumi Matsuyama, Tomohiro Imazuru, Masateru Uchiyama, Hiroo Ota, Mitsuru Iida, Tomoki Shimokawa
Journal: Int J Surg Case Rep (2020)
Keywords: cardiac tamponade, primary malignant pericardial mesothelioma, surgical intervention
MeSH terms: Case Reports

Introduction:
Primary malignant pericardial mesothelioma is a rare tumor that is very difficult to diagnose. Furthermore, it is a lethal disease, because patients usually have progressed at the time of referral.
Presentation of the case:
We report a 44-year-old man with primary malignant pericardial mesothelioma. He was referred to our hospital for the diagnosis and treatment of a massive pericardial effusion and huge tumor. Pericardiocentesis was performed, but we could not obtain definitive diagnosis, and the cardiac tamponade continued along with the signs/symptoms. He required surgical intervention for the diagnosis and treatment. After surgery, his signs/symptoms improved. He received adjuvant therapy, although he died 7 months after surgery.
Discussion:
Primary malignant pericardial mesothelioma is a rare tumor. The most common signs and symptoms are related to constriction of the heart by the tumor and/or effusion. Even if the pericardial fluid specimen obtained by pericardiocentesis is negative for malignant cells, primary malignant pericardial mesothelioma should be included in the differential diagnosis. Because the malignancy is usually advanced at the time of diagnosis, it has been difficult to cure. Radiation and chemotherapy have been used in addition to surgery, but have been minimally effective.
Conclusion:
The outcome of our patient with pericardial malignant mesothelioma was dismal. The indications for surgical intervention should be carefully considered except for critical cases requiring alleviation of immediate life-threating conditions.
Maxillary molar with two palatal roots: Two case reports
Authors: R V S Chakradhar Raju, V Chandrasekhar, Chandra Vijay Singh, Srikanth Pasari
Journal: J Conserv Dent (2010)
Keywords: anatomical variations, maxillary molars, number of canals and roots
MeSH terms: Case Reports

An awareness and understanding of the presence of an additional root and unusual root canal morphology is essential as it determines the successful outcome of endodontic treatment. Aberrations in root canal anatomy are commonly occurring phenomena. A thorough knowledge of basic root canal anatomy and its variation is necessary for successful completion of endodontic treatment. This report points to the importance of looking for additional roots and canals because knowledge of their existence would enable clinician to treat a case successfully that otherwise might end in failure.
Rudy and Borden technique for penile self-mutilation in Klingsor syndrome: a case report
Authors: Imad Boualaoui, Hicham El Bote, Omar Bellouki, Ahmed Ibrahimi, Hachem El Sayegh, Yassine Nouini
Journal: Pan Afr Med J (2021)
Keywords: genitalia, case report, psychotic disorders, self-mutilation, surgical flaps
MeSH terms: Penis / injuries, Plastic Surgery Procedures / methods, Psychotic Disorders / psychology, Self Mutilation / psychology, Case Reports, Adult, Humans, Male, Penis / surgery, Syndrome

Penile self-mutilation is a challenging situation that often jeopardizes sexual and voiding functions. Surgical treatment is currently based on penile replantation, nevertheless its requirements of time, conservation, and quality of amputated phallus and microsurgical expertise are not constantly available. Here, we present a case of penile self-inflicted amputation in a 28-years-old patient suffering from a psychotic disorder, who did not preserve the amputated phallus. In the first clinical examination, we have attested a hemorrhagic total penile section, 6cm from the penoscrotal angle. We performed immediate surgical management. Rudy and Borden technique is a reconstructive surgery procedure with interesting functional results, by performing a dorsal vascularized split-thickness skin flap to cover the penile shaft. The aim of this technique is to avoid perineostomy which compounds significantly the quality of life.
A rare case of double orifice mitral valve with perimembranous ventricular septal defect: Application of three-dimensional echocardiography for clinical decision making
Authors: Rohit Tandon, Shibba Takkar, Shailender Kumbhkarni, Naveen Kumar, Naved Aslam, Bishav Mohan, G S Wander
Journal: Ann Pediatr Cardiol (2010)
Keywords: double orifice mitral valve, real-time three-dimensional echocardiography
MeSH terms: Case Reports

Double orifice mitral valve (DOMV) is an uncommon anomaly of surgical importance characterized by a mitral valve with a single fibrous annulus with two orifices opening into the left ventricle (LV). Subvalvular structures, especially the tensor apparatus, invariably show various degrees of abnormality. Associated congenital heart defects are common, though DOMV can occur as an isolated anomaly. Two-dimensional echocardiography is useful for diagnosis but combining it with real-time three-dimensional echocardiography helps in a more detailed evaluation of mitral valve and subvalvular structures as is shown in this case description.
Acute viral hepatitis e is associated with the development of myocarditis
Authors: M Premkumar, Devraja Rangegowda, Chitranshu Vashishtha, Vikram Bhatia, Jelen Singh Khumuckham, Badal Kumar
Journal: Case Reports Hepatol (2015)

Myocarditis, an inflammatory disease of heart muscle, is an important cause of dilated cardiomyopathy worldwide. Viral infection is an important cause of myocarditis. This condition presents with various symptoms, ranging from minimally symptomatic cases to fatal arrhythmia and cardiogenic shock, and may develop chronic myocarditis and dilated cardiomyopathy in some patients. We report the case of a 26-year-old patient with acute viral hepatitis E who developed symptomatic myocarditis. As far as we could search, this is probably the 3rd case report of this rare association.
Case report: Significant response to PD-L1 inhibitor after resistance to PD-1 inhibitor in an advanced alpha-fetoprotein-positive gastric cancer
Authors: Liyu Wang, Ying Feng, Anquan Huang, Jianming Shi, Qinying Zhang, Fan Zhu, Bin Lv, Fen Guo, Tianming Zou, Luyao Zhang
Journal: Front Oncol (2022)
Keywords: pd-1, chemotherapy, gastric cancer, immunotherapy, positive alpha-fetoprotein
MeSH terms: Case Reports

Alpha-fetoprotein-positive gastric cancer (AFPGC) is a type of gastric cancer with a high degree of malignancy. The disease is more common in the elderly, with a high prevalence in males and generally atypical clinical manifestations. For advanced patients, the current treatment options are limited and, to date, few cases of advanced AFPGC have been treated successfully with conventional chemotherapy. With the development of molecular biology and immunology, tumor immunotherapy offers more therapeutic options to patients with advanced gastric cancer. This study describes a case of advanced gastric cancer in a young woman with a high blood alpha-fetoprotein (AFP) level (>54,000 ng/mL). The patient showed initial promising results when programmed cell death-1 (PD-1) inhibitor treatment was combined with chemotherapy after systemic chemotherapy failed. When the disease progressed again after 129 days, adjustment of the treatment regimen to Atezolizumab in combination with Irinotecan and Surufatinib capsules achieved partial remission (PR). There were no immune-related pneumonia, myocarditis, or other adverse effects observed. The patient currently has an overall survival of more than 14 months. This case demonstrated that switching from PD-1 inhibitor to programmed cell death-Ligand 1 (PD-L1) inhibitor therapy may overcome potential resistance. It providing a reference for immunotherapy of patients with AFP-positive advanced gastric cancer.
Non-immune Hydrops Fetalis and Hepatic Dysfunction in a Preterm Infant With Congenital Syphilis
Authors: Jessica Duby, Ari Bitnun, Vibhuti Shah, Patrick Shannon, Shiri Shinar, Hilary Whyte
Journal: Front Pediatr (2019)
Keywords: congenital syphilis, hepatic dysfunction, hydrops fetalis, infant-newborn, pregnancy complications
MeSH terms: Case Reports

We report a case of a preterm infant with congenital syphilis who presented with non-immune hydrops fetalis. Hepatic dysfunction was present at birth and acutely worsened following antibiotic administration. Placental pathology demonstrated infiltration with numerous spirochetes. Although critically ill, the infant recovered with intravenous penicillin G and supportive care. This case demonstrates that congenital syphilis remains a contemporary disease demanding enhanced awareness from clinicians. Manifestations evident in utero or in the newborn can be severe and may result in fetal demise or neonatal death. Moreover, we hypothesize that the treatment resulted in a Jarisch-Herxheimer reaction as manifested by the hepatic deterioration. The incidence of congenital syphilis and its associated complications can be greatly reduced with strict adherence to universal prenatal testing and comprehensive follow-up.
Antitumor activity of nivolumab on hemodialysis after renal allograft rejection
Authors: Michael Ong, Andrea Marie Ibrahim, Samuel Bourassa-Blanchette, Christina Canil, Todd Fairhead, Greg Knoll
Journal: J Immunother Cancer (2016)
Keywords: acute allograft rejection, anti-pd-1 therapy, hemodialysis, melanoma, nivolumab, organ transplant
MeSH terms: Antibodies, Monoclonal / therapeutic use, Antineoplastic Agents, Immunological / therapeutic use, Graft Rejection / drug therapy, Graft Rejection / immunology, Kidney Transplantation / adverse effects, Renal Dialysis, Case Reports, Antibodies, Monoclonal / pharmacology, Antineoplastic Agents, Immunological / pharmacology, Diabetes Mellitus, Type 1 / complications, Diabetes Mellitus, Type 1 / therapy, Female, Humans, Immunosuppressive Agents / adverse effects, Immunosuppressive Agents / therapeutic use, Lung Neoplasms / diagnosis, Lung Neoplasms / drug therapy, Lung Neoplasms / secondary, Melanoma / drug therapy, Melanoma / etiology, Melanoma / pathology, Middle Aged, Molecular Targeted Therapy, Neoplasm Staging, Nivolumab, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Skin Neoplasms / drug therapy, Skin Neoplasms / etiology, Skin Neoplasms / pathology, Tomography, X-Ray Computed, Antibodies, Monoclonal, Antineoplastic Agents, Immunological, Immunosuppressive Agents, Programmed Cell Death 1 Receptor, Nivolumab, Melanoma, Cutaneous Malignant

Background:
Nivolumab (Opdivo™) is a novel IgG4 subclass programmed death-1 (PD-1) inhibiting antibody that has demonstrated breakthrough-designation anti-tumor activity. To date, clinical trials of nivolumab and other checkpoint inhibitors have generally excluded patients with solid organ transplantation and patients with concurrent immunosuppression. However, organ transplant recipients are at high-risk of development of malignancy as a result of suppressed immune surveillance of cancer.
Case presentation:
We illustrate the outcomes of a 63 year-old type I diabetic female patient who developed pulmonary metastatic, BRAF wild-type cutaneous melanoma 10 years after renal transplantation. After downward titration of the patient's immunosuppressive medications and extensive multidisciplinary review, she was treated with nivolumab in the first-line setting. Within 1 week of administration, the patient experienced acute renal allograft rejection, renal failure and concurrent diabetic ketoacidosis due to steroid therapy. Allograft function did not return, but patient made a full clinical recovery after being placed on hemodialysis. Subsequently, the patient had clinical disease progression off therapy and required re-challenge with nivolumab on hemodialysis, resulting in ongoing clinical and radiographic response.
Conclusions:
This case illustrates multiple practical challenges and dangers of administering anti-PD1 immune checkpoint inhibitors to patients with solid-organ transplantation including need for titration of immunosuppressive medications, risks of allograft rejection, and treatment during hemodialysis.
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
Authors: Ali Al Kaissi, Franz Grill, Hatem Safi, Maher Ben Ghachem, Farid Ben Chehida, Klaus Klaushofer
Journal: Orphanet J Rare Dis (2007)
MeSH terms: Abnormalities, Multiple / diagnosis, Craniofacial Abnormalities / diagnosis, Limb Deformities, Congenital / diagnosis, Mobius Syndrome / diagnosis, Case Reports, Abnormalities, Multiple / genetics, Abnormalities, Multiple / physiopathology, Child Development, Child, Preschool, Craniofacial Abnormalities / genetics, Craniofacial Abnormalities / physiopathology, Humans, Infant, Infant, Newborn, Limb Deformities, Congenital / genetics, Limb Deformities, Congenital / physiopathology, Male, Mobius Syndrome / genetics, Mobius Syndrome / physiopathology, Phenotype

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.
Uncommon Pathogen, Lactobacillus, Causing Infective Endocarditis: Case Report and Review
Authors: Muhannad Antoun, Yousef Hattab, Fadi-Al Akhrass, Leigh Danielle Hamilton
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Lactobacillus is not a common pathogen; however, it can contribute to opportunistic infections such as infective endocarditis (IE). Nonetheless, it has been reported as case reports in correlation with increased probiotic use, dental caries, and intravenous drug abuse.