OpenMed/multicare-articles huggingface dataset:
A case of post-transplant adult T-cell leukemia/lymphoma presenting myelopathy similar to but distinct from human T-cell leukemia virus type I (HTLV- I)-associated myelopathy
Authors: Toyotaka Kawamata, Nobuhiro Ohno, Kota Sato, Masayuki Kobayashi, Norihide Jo, Koichiro Yuji, Ryuji Tanosaki, Yoshihisa Yamano, Arinobu Tojo, Kaoru Uchimaru
Journal: Springerplus (2014)
Keywords: adult t-cell leukemia/lymphoma, cxcl10 (ip-10), htlv-i-associated myelopathy (ham), neopterin, post-transplant myelopathy

Introduction:
Adult T-cell leukemia/lymphoma (ATL) responds poorly to conventional chemotherapy, but allogeneic stem cell transplantation (allo-SCT) may improve disease prognosis. Herein, we report a female patient with human T-cell leukemia virus type I (HTLV-I)-associated myelopathy (HAM)-like myelopathy following allo-SCT for ATL.
Case report:
She developed crural paresis 14 months after allo-SCT. Initially, she was diagnosed with central nervous system (CNS) relapse of ATL and treated with intrathecal injection and whole brain and spine irradiation. Her symptoms recurred 5 months later, when a cerebrospinal fluid (CSF) specimen showed increased CD4 + CXCR3 + CCR4+ cell numbers and levels of neopterin and CXCL10 (IP-10).
Discussion:
These results suggest the possible involvement of a certain immunological mechanism such as HAM in her symptoms, irrespective of the lack of anti-HTLV-I antibody in her CSF. Because a definitive diagnosis of CNS manifestation of ATL is sometimes difficult, multi-modal laboratory data are required for differential diagnosis.
Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives
Authors: Zahra Iqbal, John A Sayer
Journal: F1000Res (2017)
Keywords: trpc6, ethics, focal segmental glomerulosclerosis, genetics, podocytye, proteinuria, whole exome sequencing

Background:
A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases.
Methods:
Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing.
Results:
Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype. The identification of this mutation had important clinical consequences for the family, including allowing a living-unrelated kidney transplant to proceed in the index case. There are also wider ranging social and ethical dilemmas presented when reaching a genetic diagnosis like this one, which are explored here by both physicians and the index case.
Conclusions:
Through physician and patient perspectives in a family with inherited renal failure we explore the implications and the magnitude of a molecular genetic diagnosis.
Emergency abdominal aortic aneurysm repair in a patient with failing heart: axillofemoral bypass using a centrifugal pump combined with levosimendan for inotropic support
Authors: Pavel Michalek, Pavel Sebesta, Michael Stern
Journal: Case Rep Vasc Med (2011)
MeSH terms: Case Reports

We describe the case of an 83-year-old patient requiring repair of a large symptomatic abdominal aortic aneurysm (AAA). The patient was known to have coronary artery disease (CAD) with symptoms and signs of significant myocardial dysfunction, left-heart failure, and severe aortic insufficiency. The procedure was performed with the help of both mechanical and pharmacological circulatory support. Distal perfusion was provided by an axillofemoral bypass with a centrifugal pump, with dobutamine and levosimendan administered as pharmacological inotropic support. The patient's hemodynamic status was monitored with continuous cardiac output monitoring and transesophageal echocardiography. No serious circulatory complications were recorded during the perioperative and postoperative periods. This paper suggests a potential novel approach to combined circulatory support in patients with heart failure, scheduled for open abdominal aortic aneurysm repair.
Uncommon Occurrence of an Air Embolism during the Preanhepatic Phase of an Orthotopic Liver Transplant
Authors: Klint J Smart, Saman Yaghoubian
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Vascular air embolism (VAE) during liver transplantation usually occurs during the dissection phase of the procedure or during liver reperfusion. If this phenomenon occurs, it can cause significant cardiovascular, pulmonary, and neurological complications. Prompt identification of VAE is essential, and the surgeon should be immediately notified. The mainstay treatment is identification and rectification of the source of the air embolus, hemodynamic support, and prevention of further air entrainment. This case report describes the occurrence of a pulmonary air embolism during the preanhepatic phase of an orthotopic liver transplant.
A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function
Authors: Abhinaya Iyer, Nichole E Lapointe, Krzysztof Zielke, Mariusz Berdynski, Elmer Guzman, Anna Barczak, Małgorzata Chodakowska-Żebrowska, Maria Barcikowska, Stuart Feinstein, Cezary Zekanowski
Journal: PLoS One (2013)
MeSH terms: Frontotemporal Dementia / genetics, Microtubules / metabolism, Mutation, Missense / genetics, tau Proteins / genetics, tau Proteins / metabolism, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Amino Acid Sequence, Female, Frontotemporal Dementia / pathology, Humans, Middle Aged, Molecular Sequence Data, Pedigree, Poland, Sequence Alignment, Sequence Analysis, DNA, MAPT protein, human, tau Proteins

Over two dozen mutations in the gene encoding the microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease. The vast majority of these mutations map to the C-terminal region of tau possessing microtubule assembly and microtubule dynamics regulatory activities as well as the ability to promote pathological tau aggregation. Here, we describe a novel and non-conservative tau mutation (G55R) mapping to an alternatively spliced exon encoding part of the N-terminal region of the protein in a patient with the behavioral variant of FTD. Although less well understood than the C-terminal region of tau, the N-terminal region can influence both MT mediated effects as well as tau aggregation. The mutation changes an uncharged glycine to a basic arginine in the midst of a highly conserved and very acidic region. In vitro, 4-repeat G55R tau nucleates microtubule assembly more effectively than wild-type 4-repeat tau; surprisingly, this effect is tau isoform specific and is not observed in a 3-repeat G55R tau versus 3-repeat wild-type tau comparison. In contrast, the G55R mutation has no effect upon the abilities of tau to regulate MT growing and shortening dynamics or to aggregate. Additionally, the mutation has no effect upon kinesin translocation in a microtubule gliding assay. Together, (i) we have identified a novel tau mutation mapping to a mutation deficient region of the protein in a bvFTD patient, and (ii) the G55R mutation affects the ability of tau to nucleate microtubule assembly in vitro in a 4-repeat tau isoform specific manner. This altered capability could markedly affect in vivo microtubule function and neuronal cell biology. We consider G55R to be a candidate mutation for bvFTD since additional criteria required to establish causality are not yet available for assessment.
Anti-HPA-1b Mediated Posttransfusion Purpura: A Case Report
Authors: O P Arewa, S Nahirniak, G Clarke
Journal: Case Rep Med (2013)

Posttransfusion purpura (PTP) is an uncommon, but potentially fatal, transfusion reaction characterized by profound thrombocytopenia and bleeding. PTP is caused by alloimmunization to human platelet specific antigens following blood component transfusion. Although there is evidence of a wide serological spectrum of culprit antibodies implicated, Anti-human-platelet-antigen- (HPA-) 1a is the most common antibody in cases reported. We report a case of posttransfusion purpura in an African American. The patient was negative for HPA-1a antibodies, but anti-HPA-1b was identified with a platelet phenotype of HPA-1a/HPA-1a. Although less common, HPA-1b antibody may be an important consideration in posttransfusion purpura diagnosed in patients of African descent.
Laparoscopic trocar management of a giant paraovarian cyst: a case report
Authors: Mohamed Kandil, Tarek Sayyed, Mohamed Zakaria
Journal: F1000Res (2013)

A 17-year-old woman had undergone exploratory laparotomy because of a huge cystic pelviabdominal mass equivalent of 36 weeks' gestation. A closed system drainage maneuver was applied via using a laparoscopic trocar to drain a revealed large left paraovarian cyst. This maneuver was found to be a simple and effective method to safely aspirate giant paraovarian cysts; thus allowing their total excision.
Fabella Syndrome Following De-Rotation Surgery to Correct a Femoral Malunion
Authors: Iain Rankin, Haroon Rehman, George Patrick Ashcroft
Journal: Open Orthop J (2018)
Keywords: arthroscopy, case report, fabella, fabella syndrome, knee, modified surgical technique
MeSH terms: Case Reports

Background:
The fabella is a sesamoid bone situated within the lateral head of the gastrocnemius tendon, close to the lateral femoral condyle, and adjoined to the fabellofibular ligament. It is a normal variant, found in up to 87% of patients. Fabella Syndrome describes traditionally posterolateral knee pain, occurring due to biomechanical pressure of the fabella against the lateral femoral condyle. Given its rarity, its diagnosis is often overlooked. We present a case of Fabella Syndrome with a modified surgical excision technique and review of the literature.
Methods and results:
A thirty-four-year-old man presented with posterolateral knee pain following de-rotation surgery to correct a femoral malunion, from a previous femoral shaft fracture. Due to the patient's complex orthopaedic history, Fabella Syndrome was not initially diagnosed. Fabellectomy eliminated all symptoms of knee pain, with no limitations in knee function.
Conclusion:
Review of the literature identified ten publications (evidence level IV) describing Fabella Syndrome. This is the first reported case of Fabella Syndrome secondary to femoral de-rotation surgery. The authors recommend fabellectomy as a definitive treatment for Fabella Syndrome, in keeping with published literature.
'Malignant' hypertension from hyperaldosteronism: a case report
Authors: Krishna Mohan Baradhi, Thao Tran, Penchala Swamy Mittadodla
Journal: Pan Afr Med J (2018)
Keywords: secondary hypertension, adrenocortical carcinoma, hyperaldosteronism, hypokalemia
MeSH terms: Adrenal Cortex Neoplasms / complications, Adrenocortical Carcinoma / complications, Hyperaldosteronism / complications, Hypertension, Malignant / etiology, Case Reports, Adrenal Cortex Neoplasms / diagnosis, Adrenal Cortex Neoplasms / surgery, Adrenalectomy / methods, Adrenocortical Carcinoma / diagnosis, Adrenocortical Carcinoma / surgery, Aged, Blood Pressure, Female, Humans, Hyperaldosteronism / etiology, Hypokalemia / etiology, Lung Neoplasms / diagnosis, Lung Neoplasms / secondary, Nephrectomy / methods, Recurrence

Adrenocortical carcinomas (ACC) are rare with an incidence of 0.7-2 per million population per year and account for only 0.05%-2% of all malignant tumors. While majority of the functional ACC present as Cushing syndrome, recurrent hyperaldosteronism from metastatic ACC is exceedingly rare. We describe a 67-year old female presented with hypertensive urgency & hypokalemia as a result of hyperaldosteronism from an 8-cm right ACC. She underwent a radical right nephrectomy with adrenalectomy that normalized her blood pressure. However, a few years later she presented again with resistant hypertension from hyperaldosteronism, raising the suspicion of recurrence of ACC. A contrast-enhanced CT scan showed a normal left adrenal gland but revealed pulmonary metastases of ACC based on a lung biopsy. Chemotherapy was complicated with side effects leading to refusal of further chemotherapy, henceforth requiring high dose of spironolactone for blood pressure control. Despite curative surgery, metastatic functional ACC should be considered in patients presenting with secondary hypertension from recurrent hyperaldosteronism, due to its high recurrence rate. Besides standard cancer surveillance after a curative surgery, meticulous monitoring of blood pressure is a simple yet crucial way to detect cancer recurrence early.
Recurrent Brain Metastasis Versus Radiation-Induced Necrosis: A Case Report and Literature Review
Authors: Hisham Sweidan, Abdullah Jarrah, Feng Zhu, Sarah AlQasem, Nouraldeen Manasrah, Ahmed Jamal Chaudhary
Journal: Cureus (2023)
Keywords: aphasia, brain metastasis, brain radiation necrosis, metastatic non-small cell lung cancer, upper extremity weakness
MeSH terms: Case Reports

Radiotherapy is the cornerstone of brain metastasis management. With the advancement of therapies, patients are living longer, exposing them to the long-term effects of radiotherapy. Using concurrent or sequential chemotherapy, targeted agents, and immune checkpoint inhibitors may increase the incidence and severity of radiation-induced toxicity. Recurrent metastasis and radiation necrosis (RN) appear indistinguishable on neuroimaging, making it a diagnostic dilemma for clinicians. Here, we present a case of RN in a 65-year-old male patient who previously had brain metastasis (BM) from primary lung cancer, misdiagnosed initially as recurrent BM.
Case Report: A case of advanced duodenal adenocarcinoma in complete remission after chemotherapy combined with targeted therapy and radiotherapy
Authors: Zhengfeng Zhang, Yang Lei, Dazhen Wang, Liu Yang, Changjie Lou
Journal: Front Oncol (2022)
Keywords: advanced stage, case report, chemotherapy, duodenal adenocarcinoma, radiotherapy, targeted therapy
MeSH terms: Case Reports

Duodenal adenocarcinoma (DA) is an extremely rare and highly aggressive malignant tumor of the digestive system. Due to the lack of specific clinical characteristics, it is easy to misdiagnosis and miss diagnosis, and the lack of specific consensus and recommendation for treatment, so it often refers to stomach cancer and colorectal cancer. Now, we report a case of a patient with advanced DA who achieved complete remission (CR) after undergoing chemoradiotherapy combined with targeted therapy. The patient was pathologically diagnosed with DA after radical surgery in October 2020, and he failed to undergo adjuvant chemotherapy on time due to the COVID-19 outbreak. The patient found multiple lymph node liver and abdominal metastases 6 months after the operation. Considering the progression of the disease, XELOX regimen (oxaliplatin + capecitabine) chemotherapy was given for 1 cycle. After 1 cycle of treatment, the tumor markers remained elevated; the carcinoembryonic antigen (CEA) was 5.03 ng/ml (0-5 ng/ml), and the carbohydrate antigen 19-9 (CA19-9) was 747.30 U/ml (0-37 U/ml). The patient also developed intolerable capecitabine-related treatment-related adverse events (TRAEs), namely, hand-foot syndrome. For the above reasons, capecitabine was replaced as S-1 at cycle 2, and the chemotherapy regimen became SOX (oxaliplatin + S-1); bevacizumab injection was also added to the SOX regimen, and it was further treated regularly for 7 cycles with the regimen of SOX plus bevacizumab. Liver metastases showed a continuous narrowing trend throughout the treatment period; tumor markers also showed a downward trend. Finally, the patient achieved complete remission (CR) at cycle 7. After completion of chemotherapy, radiotherapy was administered to the resistant metastatic lymph nodes present in the patient's abdominal cavity for a total of 10 times. However, the patient developed severe bone marrow suppression and obstructive jaundice during the course of radiotherapy and finally failed to complete the radiotherapy plan. Currently, the patient continued maintenance therapy with bevacizumab and S-1 and showed no recurrence or metastasis after review. In this case of advanced DA, we referred to both CRC and gastric cancer in the treatment regimen of the patient. At the same time, targeted drugs and radiotherapy were also added to the basis of chemotherapy, which has no clear consensus recommendation or case for reference in the treatment of advanced DA. Thankfully, the patient's disease was controlled and remained stable after treatment with this regimen. Therefore, for patients with advanced DA who lack standardized treatment regimens and guidelines, the combination of chemotherapy with targeted therapy and radiotherapy may be one of the effective treatment modalities.
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
Authors: Kwo Wei David Ho, Nivedita U Jerath
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant. These three unrelated cases were heterozygotes with the T118M variant of the PMP22 gene. All three cases presented with painful peripheral neuropathy and varying degrees of Charcot-Marie-Tooth exam features. Electrophysiological studies revealed polyneuropathy with axonal and demyelinating features in one case, but there were minimal electrophysiological changes in the other two cases. We propose that the T118M variant can cause painful peripheral neuropathy, which may be an underrecognized feature of this variant.
Acquired Hemophilia in an Elderly Patient with Non-Small Cell Lung Cancer: a Case Report
Authors: Antonio Dulcetti, C Bruscia, D M Malena, R Benvenuto, A Martocchia, A Sentimetale, L Tafaro, M Rocchietti March, P Martelletti
Journal: SN Compr Clin Med (2023)
Keywords: acquired hemophilia a, bleeding, case report, paraneoplastic, recombinant activated factor vii
MeSH terms: Case Reports

Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies against coagulation factor VIII and characterized by spontaneous hemorrhage in patients with no previous family or personal history of bleeding. We report here a case of AHA that occurred in the Department of Medicina D'Urgenza in Sant'Andrea Hospital in a patient with previous diagnosis of NSLC. The aim of this article is to allow a more comprehensive knowledge of AHA that both for the rarity and the poor literature is underdiagnosed; for all these reasons, it is important that different specialists, like emergency specialists, experts in internal medicine, hematologists, and oncologists, acquire a more complete knowledge of the clinical and laboratory features of this disease, allowing an early diagnosis crucial for the evolution of the coagulopathy.
Osteochondroma of the Scapula with Accessory Nerve (XI) Compression
Authors: Philippe Beauchamp-Chalifour, Stéphane Pelet
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Osteochondroma is the most common benign bone tumor and is characterized as a cartilage-capped bony stalk. This lesion usually develops from the growth plate of long bones. Most osteochondromas are asymptomatic. Neurovascular compressions or cosmetic issues can occur in specific locations. Malignant transformation is extremely rare, and MRI can help evaluate these lesions. Symptomatic mass and malignancy features are the main surgical indications. Uncommonly, an osteochondroma can develop from flat bones. We present the case of a 25-year-old patient with a right scapula osteochondroma causing an accessory nerve compression. The mass was surgically removed, and the diagnosis was confirmed. The patient fully recovered at the latest 3-year follow-up visit.
A Rare Cause of Primary Aortoenteric Fistula: Streptococcus parasanguinis Aortitis
Authors: Fredy Nehme, Kyle Rowe, Cyrus Munguti, Imad Nassif
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Primary aortoenteric fistula is a rare cause of upper gastrointestinal bleed but can lead to significant mortality if the diagnosis is delayed. Aortitis, characterized by inflammation of the aortic wall, is a rare cause of aortoenteric fistula. We present a case report of a 72-year-old male patient with infectious aortoenteric fistula secondary to Streptococcus parasanguinis, along with a review of the literature. This case demonstrates the importance of early diagnosis and aggressive surgical treatment of aortoenteric fistulae and recognizing infectious aortitis as a potential etiology.
Distal posterior inferior cerebellar artery aneurysm with cerebellar arteriovenous malformation treated by open surgery: a case report
Authors: Takaya Yasuda, Yoshinori Maki, Ryota Ishibashi, Yoshitaka Kurosaki, Masaki Chin, Sen Yamagata
Journal: Chin Neurosurg J (2019)
Keywords: angiography, arteriovenous malformations, cerebellum, intracranial aneurysm, surgical procedures
MeSH terms: Case Reports

Background:
The detection of a feeder aneurysm and an arteriovenous malformation (AVM) is relatively rare for the intracranial AVM. The distal posterior inferior cerebellar artery aneurysm (DPICAAn) is reported to coexist or relate with the cerebellar AVM. In previous reports about the treatment of a DPICAAn and a cerebellar AVM, endovascular embolization with the sacrifice of the posterior inferior cerebellar artery (PICA) has often been selected. However, there have been few reports of simultaneous open surgery for coexistent cases of DPICAAn and cerebellar AVM.
Case description:
A 67-year-old male presented with a headache. We detected a right DPICAAn in the telovelotonsillar segment and a cerebellar AVM primarily fed by the left superior cerebellar artery (SCA). In addition, the nidus was located medially in the left upper cerebellar hemisphere. Magnetic resonance imaging raised suspicions of asymptomatic past hemorrhage in the cerebellar AVM. The left PICA was agenesis, and the right PICA perfused the bilateral inferior cerebellar hemispheres; thus, the right PICA could not be sacrificed. We selected open surgery to prevent any hemorrhagic event from the DPICAAn and the cerebellar AVM. The cerebellar AVM was completely removed, and the DPICAAn was successfully clipped in a single-session open surgery.
Conclusions:
Open surgery can be considered for DPICAAn and cerebellar AVM. The anatomical location of the DPICAAn and AVM contributed to the success of a single-session open surgery.
Leptomeningeal Enhancement due to Neurosarcoidosis Mimicking Malignancy
Authors: Sahara N Saltijeral, Horiana B Grosu, Henriette De La Garza, Barbara O'Brien, Gloria Iliescu
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

The present report describes the case of a 56-year-old African American man experiencing progressive disequilibrium, lower extremity weakness, difficulty walking, and hearing loss. Brain magnetic resonance imaging showed leptomeningeal enhancement. Initial differential diagnosis was broad, including malignant, infectious, and inflammatory etiologies. The cerebrospinal fluid analyses demonstrated lymphocytic pleocytosis, hypoglycorrhachia, and hyperproteinorrachia but no other abnormalities. An extensive infectious disease workup was negative. Positron emission tomography revealed hypermetabolic lymph nodes in the right mediastinum and right hilum, correlating with findings on endobronchial ultrasonography. Subsequently, image-guided fine-needle aspiration of the right upper paratracheal lymph node was performed, and biopsy studies showed noncaseating granulomatous inflammation. Based on the clinical picture, the diagnosis of neurosarcoidosis was made, and high-dose steroids were started and resulted in significant improvement.