OpenMed/multicare-articles huggingface dataset:
Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin
Authors: Mônica Fernandes Gomes, Lilibeth Ferraz de Brito Penna Forte, Cybelle Mori Hiraoka, Flávio Augusto Claro, Mônica Costa Armond
Journal: ISRN Dent (2011)
MeSH terms: Case Reports

Cherubism is a rare autosomal-dominant inherited syndrome and is usually self-limiting; it starts in early childhood and involutes by puberty. It is a benign fibroosseous disease, characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses. The purpose of this clinical report is to describe a rare and aggressive form of cherubism on an adult female patient that has been treated in our Bioscience Center for Special Health Care Needs-CEBAPE. The patient was firstly submitted to the surgical procedure with partial curettage of the lesion, and the cavity was filled with autogenous cancellous bone and bone marrow grafts. Furthermore, the support treatment used was the administration of salmon calcitonin by nasal spray during the first year after the preconized procedure. At 4-year followup, we confirmed the stomatognathic system improvement and esthetic rehabilitation, which led to a significant increase in the patient's quality of life.
Rapidly progressive dementia due to Mycobacterium neoaurum meningoencephalitis
Authors: George A Heckman, Cynthia Hawkins, Andrew Morris, Lori L Burrows, Catherine Bergeron
Journal: Emerg Infect Dis (2004)
MeSH terms: Dementia / microbiology, Dementia / physiopathology, Meningoencephalitis / microbiology, Meningoencephalitis / physiopathology, Nontuberculous Mycobacteria / pathogenicity, Case Reports, Disease Progression, Female, Humans, Middle Aged, Mycobacterium Infections / microbiology, Mycobacterium Infections / physiopathology, Nontuberculous Mycobacteria / classification, Nontuberculous Mycobacteria / genetics, Nontuberculous Mycobacteria / isolation & purification, Time Factors

Dementia developed in a patient with widespread neurologic manifestations; she died within 5 months. Pathologic findings showed granulomatous inflammation with caseation necrosis, foreign body-type giant cells, and proliferative endarteritis with vascular occlusions. Broad-range polymerase chain reaction identified Mycobacterium neoaurum as the possible pathogen. Central nervous system infection by M. neoaurum may result in rapidly progressive dementia.
Vascular Endograft Infection with Listeria monocytogenes reated with Surgical Debridement but without Graft Removal
Authors: Beate Tanner-Steinmann, Katia Boggian
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

The awareness of Listeria monocytogenes as a pathogen in meningitis and bacteremia in immunosuppressed patients is high. We report a case of vascular graft infection due to Listeria monocytogenes as an example of a less well-known manifestation of listeriosis and focus on the possible treatment procedures emphasizing a management with surgical debridement but preservation of the endograft, in contrast to the gold standard treatment of vascular graft infections which consists of a removal of the graft.
The Combination of Interferon-Alpha and Ponatinib Enables Faster and Deeper Molecular Responses in Patient with De Novo Blast Crisis of CML: Interferon-Alpha May Return as a CML Treatment
Authors: Kunio Hayashi, Kazuhiro Ikegame, Naoto Takahashi
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

In the era of tyrosine kinase inhibitor (TKI) treatment, its effectiveness in treating chronic myelogenous leukemia (CML) has been improved, ensuring the same prognosis as that of healthy people of the same age. However, there are some patients with de novo blast crisis that undergoes acute conversion from the time of diagnosis and does not respond to TKI treatment, especially in the older patients. Here, we present a case of an older patient with de novo lymphoid crisis who was first treated with a combination of TKI and chemotherapy, but it was difficult to maintain a durable deep molecular response (DMR). After he achieved major molecular response (MMR) or less, it was possible to suppress IS% to DMR by performing a combined treatment with interferon-α (IFN-α) and ponatinib. It is considered that DMR can be maintained by the combination of the two-way action of IFN-α, that is, the transfer of dormant CML stem cells to the cellcycle and the activation of a specific immune response to CML cells. This clinical result suggests the possibility of the re-emergence of IFN-α, which has been used a therapeutic drug in the past.
GuideLiner Balloon Assisted Tracking (GBAT): A New Addition to the Interventional Toolbox
Authors: Basem Elbarouni, Motaz Moussa, Malek Kass, Olga Toleva, Minh Vo, Amir Ravandi
Journal: Case Rep Cardiol (2016)
MeSH terms: Case Reports

The use of guide extension catheters, such as GuideLiner, allows for increased guide support and facilitates device delivery in tortuous vessels. In cases which the GuideLiner catheter cannot be advanced even with balloon anchoring technique, we inflate a noncompliant balloon protruding from the GuideLiner catheter at nominal pressure and both the GuideLiner and the balloon are advanced over the coronary guidewire through the tortuous segments. This technique can be applied to 5.5 Fr., 6 Fr., and 7 Fr. GuideLiner catheters. This technique is termed GuideLiner Balloon Assisted Tracking (GBAT).
Large peripheral osteoma of the mandible: a case report
Authors: Emel Bulut, Aydan Acikgoz, Bora Ozan, Omer Gunhan
Journal: Int J Dent (2010)
MeSH terms: Case Reports

Osteomas are benign, slow-growing osteogenic tumors commonly occurring in the craniofacial bones. Osteomas are characterized by the proliferation of compact and/or cancellous bone. It can be of a central, peripheral, or extraskeletal type. The peripheral type arises from the periosteum and is rarely seen in the mandible. The lingual surface and lower border of the body are the most common locations of these lesions. They are usually asymptomatic and can be discovered in routine clinical and radiographic examination. In this paper, we presented a large solitary peripheral osteoma located in the buccal surface of the left posterior mandible and causing facial deformity in a 37-year-old woman. Radiographic examination by computed tomography revealed radiopacity with a well-circumscribed, pedunculated mass approximately 3 cm in size. The osteoma was removed surgically, and no recurrence has been observed.
The first imported case of melioidosis in a patient in central China
Authors: Youhua Yuan, Zonghui Yao, Erhui Xiao, Jiangfeng Zhang, Baoya Wang, Bing Ma, Yi Li, Wenjuan Yan, Shanmei Wang, Qiong Ma, Junhong Xu, Yuming Wang, Enguo Fan
Journal: Emerg Microbes Infect (2019)
Keywords: melioidosis, emerging infectious disease, multilocus sequence type, whole-genome sequence
MeSH terms: Burkholderia pseudomallei / isolation & purification, Melioidosis / diagnosis, Melioidosis / pathology, Case Reports, Bacterial Typing Techniques, China, Humans, Male, Middle Aged, Phylogeny, Polymerase Chain Reaction, Sequence Analysis, DNA

Here, we report the first imported case of melioidosis from Laos in central China. COMPACT VITEK2 identification system and PCR, as well as sequencing methods confirmed that the patient was infected by Burkholderia pseudomallei, a bacterial species closely related to an isolate detected in Thailand. These findings are highly valuable for an early diagnosis, treatment and to prevent the spread of this emerging infectious disease in central China.
Primary squamous cell carcinoma of the ampulla of Vater: a case report
Authors: B Balci, B Calik, T Karadeniz, H Sahin, L Ugurlu, C Aydin
Journal: Surg Case Rep (2016)
Keywords: ampulla of vater, squamous cell carcinoma

Background:
Primary squamous cell carcinoma of the ampulla of Vater is a very rare type of tumor, and the prognosis is not well known mainly due to a limited number of cases reported. Here, we aimed to report a case with primary squamous cell carcinoma of the ampulla of Vater.
Case presentation:
A 54-year-old woman presented with weight loss, jaundice, and pain in the epigastric and right upper quadrant of the abdomen. With extensive radiological imaging, the patient was diagnosed with periampullary tumor and Whipple's procedure was performed. The immunohistochemical analyses supported the diagnosis of primary squamous cell carcinoma. The postoperative course was uneventful. The patient was discharged, and adjuvant chemotherapy was recommended.
Conclusion:
Primary squamous cell carcinoma of the ampulla of Vater is a very rare histological type with an unclear pathogenesis. A better understanding of pathogenesis might be helpful in optimizing the treatment for this specific rare type of tumor.
Successful use of femoral nerve block with dexmedetomidine for fracture fixation of an intracapsular fracture of the femoral neck in a patient with severe aortic stenosis: a case report
Authors: Yui Yamane, Takeshi Omae, Keito Kou, Sonoko Sakuraba
Journal: JA Clin Rep (2017)
Keywords: aortic stenosis, femoral nerve block, guideline

We described a case in which femoral nerve block (FNB) and lateral femoral cutaneous nerve block (LFCNB) with dexmedetomidine (DEX) was useful for open reduction and internal fixation (ORIF) of a femoral neck fracture in a patient with severe aortic stenosis. Cardiac surgery had been recommended but was declined by the patient. Thus, ORIF was selected because of the patient's concomitant severe aortic stenosis. The anesthesia method used was FNB plus LFCNB with DEX, which achieved adequate local anesthesia. DEX was used to avoid respiratory depression because this patient has pulmonary hypertension. This patient had been sedative up to the end of surgery. Total operating time was 51 min, and the patient's hemodynamics were stable throughout the perioperative period. There were no complications. In this case, anesthesia using a nerve block with DEX contributed to the safety of noncardiac surgery in a patient with severe cardiac disease under conservative treatment during the perioperative period.
Severe Influenza A(H1N1) Virus Infection Complicated by Myositis, Refractory Rhabdomyolysis, and Compartment Syndrome
Authors: Camila D Odio, Charisse Mandimika, Thiago A Jabuonski, Maricar Malinis
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Myositis is a rare and morbid complication of influenza infection that can rapidly progress to rhabdomyolysis with acute renal failure. Here, we describe a 35-year-old obese woman with severe influenza A(H1N1) virus infection complicated by myositis, refractory rhabdomyolysis, and compartment syndrome.
A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
Authors: N H Birkebæk, J S Sørensen, J Vikre-Jørgensen, P K A Jensen, O Pedersen, T Hansen
Journal: Case Rep Genet (2011)
MeSH terms: Case Reports

We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfather and great grandfather suffered type 2 DM. Several blood glucose profiles showed (BG) of 6.5-10 mmol/L L. After three years on neutral insulin Hagedorn (NPH) in a dose of 0.3 IU/kg/day haemoglobin A1c (HbA1c) was 6.8%. Treatment was changed to sulphonylurea 750 mg a day, and after 4 years HbA1c was 7%. At that time a multiplex ligation-dependent amplification gene dosage assay (MLPA) was done, revealing a whole GCK gene deletion. Medical treatment was ceased, and after one year HbA1c was 6.8%. This case underscores the importance of a MLPA examination if the phenotype of a patient is strongly indicative of GCK insufficiency and no mutation is identified using direct sequencing.
Vascular endothelial cell function in catastrophic antiphospholipid syndrome: a case report and review of the literature
Authors: B Routy, T Huynh, R Fraser, C Séguin
Journal: Case Rep Hematol (2013)

Catastrophic antiphospholipid syndrome (CAPS) is a rare autoimmune condition, which has been associated with a high mortality rate. However, with current management that includes a combination of anticoagulation, glucocorticoid administration, and plasma exchange, mortality rate has declined. Despite survival improvement with new generation immunosuppressive agents, their mechanisms of action are poorly defined, and CAPS is still considered a high-risk complication in patients known with antiphospholipid antibody syndrome. Herein, we present a case of a 79-year-old male who presented with a myocardial infarct and renal failure secondary to CAPS following a splenectomy for immune thrombocytopenia. Regardless of rapid combination of first-line treatment and rituximab therapy, the patient developed lethal cardiogenic shock secondary to mitral valve papillary muscle necrosis. Discussion of the pathophysiology and avenues of future therapies in CAPS are reported.
Acute Left Internal Carotid Artery and Right Popliteal Artery Occlusion Related to Cisplatin-Gemcitabine Based Chemotherapy
Authors: Saman Zafar, Rashmika Potdar, Andrew Tiu, Gabor Varadi, John Leighton
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Objectives:
The increased risk of thromboembolic complications with active cancer is well known. We present this case to highlight that chemotherapy may increase the risk of thromboembolic events even further in cancer patients.
Methods:
We report a case of a 64-year-old male with Diffuse Large B-Cell Non-Hodgkin's Lymphoma who presented with left-sided headache and right calf pain two weeks after starting Rituximab/Gemcitabine/Cisplatin/Dexamethasone chemotherapy. Neurological examination was normal, but there was an absent right dorsalis pedis pulse. He subsequently developed left vision loss. CT angiogram of the head and neck revealed occlusion of his left internal carotid artery and poor opacification of the left ophthalmic artery. An angiogram of the right leg further revealed acute occlusion of the popliteal artery.
Results:
The patient underwent intra-arterial Tissue Plasminogen Activator injection to his lower limb and was started on Low Molecular Weight Heparin. His vision gradually recovered with time. His chemotherapy regimen was changed to RICE (Rituximab, Ifosfamide, Carboplatin, Etoposide).
Conclusion:
Based on literature review, there are numerous similar presentations of arterial thromboembolism in patients on Cisplatin-based chemotherapy. A high index of suspicion for such events should be maintained for patients on chemotherapy presenting with unusual symptoms.
A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome
Authors: Yongming Liu, Junqing Xu, Lina Chu, Limei Yu, Yanhong Zhang, Li Ma, Weihua Wang, Yangyang Zhang, Yimin Xu, Riming Liu
Journal: Mol Cytogenet (2020)
Keywords: 17)(q22, apl, fish, ider(17)(q10)t(15, pml-rara, rt-pcr, q21)
MeSH terms: Case Reports

Background:
Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and the prognostic significance is still unclear.
Case presentation:
We present the case of a patient with t(15;17)(q22;q21), der(15)t(15;17) and ider(17)(q10)t(15;17)(q22;q21). In particular, the RT-PCR result for PML-RARA of this patient was a false negative and mutational analysis of AML-related genes showed SNP rs2454206 in the TET2 gene and yielded negative findings in other genes including AML1, ASXL1, CEBPA, DNMT3A, FLT3, KIT, NPM1, TP53, and U2AF1. After the early usage of arsenic trioxide combinated with ATRA and vigorous supportive treatment to maintain PLT ≥30×109/L and FIB >1500 mg/L, this patient was under MMR and HCR without any clinical symptoms or signs until now.
Conclusion:
False negative reslults of RT-PCR analysis for PML-RARA are rare in APL and ider(17) is even more infrequent. To our knowledge, this is the first reported case of APL with ider(17) and false negative RT-PCR analysis results. The role of ider(17) in APL is still an ongoing investigation and limited by the small number of published cases. The patient reported here benefited from vigorous supportive treatment during the combination of ATRA and arsenic trioxide in induction chemotherapy and the clinical outcome was favorable.
Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders
Authors: Caroline Gertrud Bergner, Christiane Michaela Neuhofer, Claudia Funke, Saskia Biskup, Philipp von Gottberg, Claudia Bartels, Jan Christoph Koch, Katrin Radenbach
Journal: Front Neurosci (2020)
Keywords: fig4, amyotrophic lateral sclerosis, dementia, genetics, neurodegeneration
MeSH terms: Case Reports

Background:
Modern genetics have in many ways revolutionized clinical routine and have, for instance, shown that formerly distinct disease entities relate to common pathogenic mutations. One such example is the connection between dementia and amyotrophic lateral sclerosis (ALS) in a continuous disease spectrum affirmed by the discovery of shared mutations.
Case report:
We describe a new variant in the FIG4 gene in a patient with slowly progressing frontotemporal dementia (FTD) and probable primary lateral sclerosis (PLS). The patient initially showed depressive symptoms and global cognitive deficits. Severe difficulties with language and hallucinations became clearer as the disease progressed. Nuclear medicine imaging and cerebrospinal fluid (CSF) biomarkers were not specific for defined categories of dementia, but neuropsychological testing and clinical features finally led to an allocation of the syndrome to the non-fluent variant of primary progressive aphasia (nfv PPA). Because of increasing limb weakness and bulbar symptoms, motoneuron disease in the form of PLS was diagnosed, strongly supported by elevated CSF neurofilament and electrophysiologic assessments. The detected variant in the FIG4 gene is described as pathogenic or likely pathogenic in common databases and reported once in the literature. While the phenotype of our patient fits the description of FIG4-associated disease in literature, we consider the present variant as VUS in this case.
Conclusion:
We describe a variant in the FIG4 gene in a patient with slowly progressing FTD and PLS. Mutations in the FIG4 gene have been associated with ALS and PLS; however, this exact mutation was not reported in ALS or PLS patients before. The case illustrates generic diagnostic challenges in patients presenting with genetic variants that offer an explanation for otherwise uncommon symptom combinations but yet are of unknown significance.
Moyamoya disease in pregnancy: management after intracranial bypass grafting
Authors: A C Gimovsky, C J Macri, S L Bathgate, D E Ross
Journal: Case Rep Obstet Gynecol (2012)
MeSH terms: Case Reports

Moyamoya disease (MD) is a chronic, progressive cerebrovascular disease distinguished by bilateral stenosis or occlusion of the arteries around the circle of Willis with resulting prominent arterial collateral circulation. We describe a pregnant woman in whom this diagnosis was confirmed by cerebral angiogram and treated with bilateral superficial temporal artery-middle cerebral artery (STA-MCA) bypass grafting prior to conception. The patient was managed with strict blood pressure monitoring and low-dose aspirin antepartum, intrapartum, and postpartum. The patient presented in spontaneous labor at term and underwent a spontaneous vaginal delivery without complications.
Cholecystitis on gallbladder duplication: A case report and literature review
Authors: Mabrouka Boukoucha, Fatma Dhieb, Raoudha Ben Khelifa, Hakim Znaidi, Rany Elaifi, Alifa Daghfous
Journal: Int J Surg Case Rep (2020)
Keywords: case report, cholecystectomy, cholecystitis, gallbladder duplication
MeSH terms: Case Reports

Introduction:
Gallbladder Duplication is an uncommon anomaly of the biliary system that rarely seen during the routine ultrasound examination. It is a challenge that can be encountered by surgeons and associated with an increased risk of complications after cholecystectomy.
Case presentation:
We report the case of a 58-year-old woman, presented to the emergency department with persistent right upper quadrant pain. Ultrasound exam detected Gallbladder Duplication with lithiasic cholecystitis in both of them. Besides, a Computed Tomography and a Magnetic Resonance Imaging confirmed the diagnosis showing a hepatic abscess by contiguity. The Patient was operated and, three days later, she was discharged home without incident.
Discussion:
Gallbladder duplication is an anatomic biliary variant, which can associate with biliary ducts malformation. It can complicate the diagnosis and the surgical management of symptomatic Cholelithiasis or Cholecystitis. So, defining the exact anatomy of the biliary tree before surgery is crucial. Currently, the imaging technique, widely used for evaluating of the biliary tree, is the Magnetic Resonance Cholangiography. Laparoscopic cholecystectomy is the treatment of choice.
Conclusions:
Duplication of the gallbladder that could now be detected preoperatively by imaging should always be in a surgeon's mind, since it has been associated with anatomical biliary and vessels variations.
If there is smoke, there must be fire - Isolated distal, non-displaced, intraarticular ulna fracture: A case report
Authors: Marie Hélène Manz, Kai Oliver Jensen, Florin Allemann, Hans-Peter Simmen, Thomas Rauer
Journal: Int J Surg Case Rep (2019)
Keywords: distal ulna fracture, forearm, isolated fracture, trauma, wrist

Introduction:
Falling on the outstretched arm is a frequent trauma. The consequences can be isolated fractures of the distal radius, combined fractures of the distal radius and distal ulna - whereas the isolated fracture of the distal ulna is an uncommon trauma.
Presentation of case:
We report on a 20- year- old male who presented at the emergency department after a motorcycle accident, suffering pain at his left forearm and left wrist. After an unremarkable x-ray in two planes, a CT- scan of the left wrist was performed and detected an isolated distal ulna fracture. The patient was treated with a forearm cast which led to a satisfying long term outcome.
Discussion:
Based on the presented case the anatomical peculiarities of the distal radioulnar joint and the different trauma mechanisms as well as the resulting lesions, the diagnostic modalities and the treatment options are discussed.
Conclusion:
We recommend performing an additional CT scan of the wrist in case of credible complaints after trauma to avoid baulking this very rare type of fracture.