OpenMed/multicare-articles huggingface dataset:
Plasma proteomic and autoantibody profiles reveal the proteomic characteristics involved in longevity families in Bama, China
Authors: Shengliang Ye, Li Ma, Rong Zhang, Fengjuan Liu, Peng Jiang, Jun Xu, Haijun Cao, Xi Du, Fangzhao Lin, Lu Cheng, Xuefeng Zhou, Zhihui Shi, Yeheng Liu, Yaojin Huang, Zongkui Wang, Changqing Li
Journal: Clin Proteomics (2019)
Keywords: autoantibody profiles, bama longevity area, human proteome microarray, plasma proteomics, tandem mass tag

Background:
Chinese Bama Yao Autonomous County is a well-known longevity region in the world. In the past 30 years, population and genome studies were undertaken to investigate the secret of longevity and showed that longevity is the result of a combination of multiple factors, such as genetic, environmental and other causes. In this study, characteristics of the blood plasma proteomic and autoantibody profiles of people from Bama longevity family were investigated.
Methods:
Sixty-six plasma donors from Chinese Bama longevity area were recruited in this study. Thirty-three offsprings of longevous families were selected as case studies (Longevous group) and 33 ABO (blood type), age, and gender-matched subjects from non-longevous families were selected as controls (Normal group). Each group contains 3 biological replicates. Tandem mass tag-based proteomic technique was used to investigate the differentially expressed plasma proteins between the two groups. The auto-reactive IgG antibody profiles of the 3 pooled samples in each group were revealed by human proteome microarrays with 17,000 recombinant human proteins.
Results:
Firstly, 525 plasma proteins were quantified and 12 proteins were discovered differentially expressed between the two groups. Secondly, more than 500 proteins were recognized by plasma antibodies, 14 proteins ware differentially reacted with the autoantibodies in the two groups. Bioinformatics analysis showed some of the differential proteins and targeted autoantigens were involved in cancer, cardiovascular disease and immunity.
Conclusions:
Proteomic and autoantibody profiles varied between the offspring of longevous and normal families which are from the same area and shared the same environmental factors. The identified differences were reported to be involved in several physiological and pathological pathways. The identified proteins will contribute to a better understanding of the proteomic characteristics of people from Bama longevous area and a revelation of the molecular mechanisms of longevity.
Spontaneous transverse colon volvulus
Authors: Landolsi Sana, Gassara Ali, Helmi Kallel, Baklouti Amine, Saadaoui Ahmed, Elouer Mohamed Ali, Chaeib Wajdi, Mannaï Saber
Journal: Pan Afr Med J (2013)
Keywords: transverse colon, volvulus, spontaneous
MeSH terms: Colon, Transverse, Colonic Diseases / diagnosis, Colonic Diseases / surgery, Intestinal Volvulus / diagnosis, Intestinal Volvulus / surgery, Case Reports, Adult, Female, Humans

We report a case of spontaneous transverse colon volvulus in a young healthy woman. It constitutes an unusual case since it occurred in a young healthy woman with a subacute onset and no aetiological factor has been found. Its diagnosis is still challenging. Prompt recognition with emergency intervention constitutes the key to successful outcome.
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
Authors: Kristi K Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, Christian Pizarro
Journal: Case Rep Genet (2014)

Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novel SMAD3 mutation in a patient with hypoplastic left heart syndrome (HLHS) who developed progressive aortic aneurysm requiring surgical replacement of the neoaortic root, ascending aorta, and proximal aortic arch. Family screening for the mutation revealed that his father, who has vascular and skeletal features of AOS, and his brother, who is asymptomatic, also have the pathogenic mutation. This is the first case report of a SMAD3 mutation in a patient with hypoplastic left heart syndrome. This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.
Acute Coronary Syndrome (ACS) due to Coronary Artery Embolism in a Patient with Atrial Fibrillation
Authors: Hussein Daoud, Ashraf Abugroun, Shruti Erramilli, Surender Kumar
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Acute coronary syndrome (ACS) secondary to a coronary embolism is an unusual occurrence, yet an important consideration given the difficult diagnosis. We report a case of a 69-year-old male with a medical history of paroxysmal atrial fibrillation who presented with chest pain and shortness of breath. A coronary angiogram was significant for three focal transluminal and translucent areas in the ostial, mid, and distal circumflex artery consistent with embolic disease. The patient was subsequently managed medically with anticoagulation. Despite being a relatively rare entity, thromboembolism into the coronary arteries can provoke an acute myocardial infarction, with atrial fibrillation being the most common risk factor. Treatment modalities for ACS secondary to thromboembolism include stent placement, intracoronary thrombolysis, and thrombus aspiration.
Subperiosteal Aneurysmal Bone Cyst with Florid Ossification: A Rare Subtype
Authors: Talal Ahmad, Rana Naous
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Aneurysmal bone cyst (ABC) is a well-characterized benign cystic lesion of the bone with common localization to the medulla of the long bones. Rarely, ABCs may arise within the subperiosteal region, which can be diagnostically challenging for both the radiologist and pathologist due to their aggressive radiologic appearance thus mimicking other malignant neoplasms. Herein, we present a rare case of subperiosteal ABC with prominent soft tissue involvement and florid reactive periosteal ossification and provide a short literature review on subperiosteal ABCs.
Adult Intestinal Intussusception Caused by the Gastrojejunostomy Tube: An Endoscopically Treatable Phenomenon
Authors: Kermit S Zhang, Jash Bansal, Anmol Bansal, Vikas Chitnavis
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Adult duodenoduodenal intussusception is extremely rare due to the retroperitoneal fixation of the second, third, and fourth parts of the duodenum. A majority of clinically significant intussusception with identifiable etiologies is typically neoplastic with more rare causes including retained food and indwelling enteral tubes, specifically with gastrojejunostomy (GJ) tubes. Herein, we discuss the case of a 23-year-old male who developed duodenoduodenal intussusception upon a PEGJ placement with associated gastroduodenal dilation and telescope phenomenon. To the best of our knowledge, there are no reports of intussusception found to be caused by GJ tubes in the adult population. The reported patient was found to have a 4-cm enteroenteric intussusception without obstruction or ischemia with bowel thickening proximal to the pathology. Although adult intussusception cases are typically managed surgically, we were able to reduce the intussusception via endoscopy due to rapid diagnosis upon presentation and intervention before the bowel wall could be compromised.
Intracranial Myeloid Sarcoma Metastasis Mimicking Acute Subdural Hematoma
Authors: Amandip S Gill, Rabina Gill, Paul Kaloostian, Dina Elias, John S Roufail, Aurora S Cruz, Panayiotis E Pelargos, Frank P K Hsu, Ronald C Kim, Robert E Ayer, Samer Ghostine
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Myeloid sarcoma, a rare consequence of myeloproliferative disorders, is rarely seen in the central nervous system, most commonly in the pediatric population. Although there are a handful of case reports detailing initial presentation of CNS myeloid sarcoma in the adult population, we have been unable to find any reports of CNS myeloid sarcoma presenting as a large mass lesion in a herniating patient. Here, we present the case of a patient transferred to our facility for a very large subdural hematoma. Based on imaging characteristics, it was felt to be a spontaneous hematoma secondary to coagulopathy. No coagulopathy was found. Interestingly, he did have a history of acute myeloid leukemia (AML) diagnosed 2 months previously, and intraoperatively he was found to have a confluent white mass invading both the subdural and subarachnoid spaces. There was minimal associated hemorrhage and final pathology showed myeloid sarcoma. This is the first report we are aware of in which CNS myeloid sarcoma presented as a subdural metastasis and also the first report in which we are aware of this etiology causing a herniation syndrome secondary to mass effect.
A Full Computerized Workflow for Planning Surgically Assisted Rapid Palatal Expansion and Orthognathic Surgery in a Skeletal Class III Patient
Authors: Orazio Bennici, Alessia Malgioglio, Serena Moschitto, Gianrico Spagnuolo, Alberta Greco Lucchina, Vincenzo Ronsivalle, Gaetano Isola, Antonino Lo Giudice
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

In the present case report, we present and discuss the digital workflow involved in the orthodontic/orthognathic combined treatment of a skeletal malocclusion correction in a 17-year-old male patient affected by a skeletal class III, facial asymmetry, sagittal and transversal deficiency of the medium third of the skull, dental crowding, and bilateral cross-bite. The first stage of the treatment involved surgically assisted rapid palatal expansion and occlusal decompensation, using fixed self-ligating appliance. An orthodontic software package (i.e., Dolphin 3D Surgery module) was used to perform virtual treatment objective evaluation by integrating data from cone beam computer tomography acquisition, intraoral scan, and extraoral photographs. The software allowed a comprehensive evaluation of skeletal, dento-alveolar, and soft-tissue disharmonies, qualitative and quantitative simulation of surgical procedure according to skeletal and aesthetic objectives, and, consequently, the treatment of the malocclusion. Using a specific function of the software, the surgical splint was designed according to the pre-programmed skeletal movements, and subsequently, the physical splint was generated with a three-dimensional (3D) printing technology. Once a proper occlusal decompensation was reached, a Le Fort I osteotomy of the maxilla and a bilateral sagittal surgical osteotomy of the mandible were executed to restore proper skeletal relations. The whole treatment time was 8 months. The orthodontic/orthognathic combined treatment allowed to correct the skeletal and the dental imbalance, as well as the improvement of facial aesthetics. Accordingly, the treatment objectives planned in the virtual environment were achieved. Virtual planning offers new possibilities for visualizing the relationship between dental arches and surrounding bone and soft structures in a single virtual 3D model, allowing the specialists to simulate different surgical and orthodontic procedures to achieve the best possible result for the patient and providing an accurate and predictable outcome in the treatment of challenging malocclusions.
Laparoscopic Cholecystectomy for Acute Calcular Cholecystitis in a Patient with Ventriculoperitoneal Shunt: A Case Report and Literature Review
Authors: Abdullah A Albarrak, Sami Khairy, Alzahrani Mohammed Ahmed
Journal: Case Rep Surg (2015)

Management of patients who have ventriculoperitoneal shunt presenting with acute calcular cholecystitis has remained a clinical challenge. In this paper, the hospital course and the follow-up of a patient presenting with acute calcular cholecystitis and ventriculoperitoneal shunt managed with laparoscopic cholecystectomy are presented followed by literature review on the management of acute calcular cholecystitis in patients who have ventriculoperitoneal shunts.
Acquired Vitamin K Deficiency as Unusual Cause of Bleeding Tendency in Adults: A Case Report of a Nonhospitalized Student Presenting with Severe Menorrhagia
Authors: Omid Reza Zekavat, Gholamreza Fathpour, Sezaneh Haghpanah, Seyed Javad Dehghani, Maryam Zekavat, Nader Shakibazad
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

We report a rare case of acquired vitamin K deficiency presenting with severe menorrhagia and without any gynecological problem. Partial thromboplastin time (59.2 seconds) and prothrombin time (33.1 seconds, INR: 5.97) were considerably prolonged in laboratory evaluations. A complete coagulation factor assay test was performed for the patient: factor IX, 24%; factor II, 41%; factor VII, 3%; and factor X, 52%. She had been taking many high-energy drinks and she had inadequate dietary intake for the past 6 months. Given that she had vitamin K deficiency (VKD), a course of vitamin K therapy was started for her in the hospital. This case showed the potential for menorrhagia due to VKD with use of high-energy drinks and the value of a complete and detailed history in early diagnosis.
A Case of Severe Fioricet Withdrawal Presenting During Admission to an Inpatient Psychiatric Unit
Authors: Alejandro Rodulfo, Alberto Augsten, Erin Wainwright, Gil Abramovici
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Background:
Butalbital-containing combination (BCC) analgesics have the potential for the development of tolerance and dependence. Misuse and withdrawal of these agents should be considered in patients presenting with new-onset psychosis. This case highlights how butalbital withdrawal may be missed in the emergency department setting and underscores how early identification may affect management and prognosis. Case Presentation. A 40-year-old female with a history of migraine, depression, and anxiety presented to the emergency department (ED) with new-onset psychosis following a recent seizure-like episode. At home, the patient was prescribed butalbital-acetaminophen-caffeine (Fioricet), duloxetine, alprazolam, and zolpidem for these conditions. On arrival to the ED, the patient was disoriented and appeared to be responding to internal stimuli. Following initial medical evaluation, the patient was cleared for further psychiatric assessment, during which she developed acute-onset autonomic instability while waiting for a bed on the inpatient psychiatric unit. She then became agitated, requiring multiple emergency medications, and eventually required emergent intubation and was admitted to the intensive care unit (ICU). Following extubation, a psychiatric consultation was performed. On assessment, the patient was alert and oriented and no longer exhibited psychotic symptoms. She admitted to using butalbital-acetaminophen-caffeine (Fioricet) daily for the past 10 years and had recently run out of her prescribed medication. She acknowledged that she was taking more than prescribed and requested substance use treatment resources, for which she was subsequently discharged to an inpatient drug rehabilitation facility.
Conclusions:
Given the time constraints inherent to the ED setting, a complete substance use history (both illicit and prescribed) may be challenging to obtain. However, it remains critical for providers to identify patients at risk for life-threatening withdrawal from sedative, hypnotics, and anxiolytic agents.
Progressive multifocal leukoencephalopathy associated with chemotherapy induced lymphocytopenia in solid tumors - case report of an underestimated complication
Authors: Patrick Mayr, Mathias Lutz, Maximilian Schmutz, Jens Hoeppner, Friederike Liesche-Starnecker, Jürgen Schlegel, Jochen Gaedcke, Rainer Claus
Journal: Front Oncol (2022)
Keywords: (literature) review, jc virus, chemotherapy, complication, esophageal cancer, lymphopenia, progressive multifocal leukoencephalopathy, solid tumor
MeSH terms: Case Reports

Background:
JC virus reactivation causing progressive multifocal leukoencephalopathy (PML) occurs preferentially in human immunodeficiency virus (HIV) positive individuals or patients suffering from hematologic neoplasms due to impaired viral control. Reactivation in patients suffering from solid malignancies is rarely described in published literature.
Case presentation:
Here we describe a case of PML in a male patient suffering from esophageal cancer who underwent neoadjuvant radiochemotherapy and surgical resection in curative intent resulting in complete tumor remission. The radiochemotherapy regimen contained carboplatin and paclitaxel (CROSS protocol). Since therapy onset, the patient presented with persistent and progredient leukopenia and lymphopenia in absence of otherwise known risk factors for PML. Symptom onset, which comprised aphasia, word finding disorder, and paresis, was apparent 7 months after therapy initiation. There was no relief in symptoms despite standard of care PML directed supportive therapy. The patient died two months after therapy onset.
Conclusion:
PML is a very rare event in solid tumors without obvious states of immununosuppression and thus harbors the risk of unawareness. The reported patient suffered from lymphopenia, associated with systemic therapy, but was an otherwise immunocompetent individual. In case of neurologic impairment in patients suffering from leukopenia, PML must be considered - even in the absence of hematologic neoplasia or HIV infection.
Retrograde Snaring for Left Ventricular Lead Placement in the Presence of a Persistent Left Superior Vena Cava
Authors: Enes E Gul, Ibrahim Ahmad Ali, Yumna B Haseeb, Sohaib Haseeb, Osama Al Amoudi
Journal: J Innov Card Rhythm Manag (2023)
Keywords: cardiac resynchronization therapy, left ventricular lead, persistent left superior vena cava, snare technique
MeSH terms: Case Reports

Left ventricular lead positioning is technically demanding in cardiac resynchronization therapy (CRT) device implantation, especially in patients with complex cardiac venous anatomies. We report a case in which retrograde snaring was employed to successfully deliver the left ventricular lead through a persistent left superior vena cava for CRT implantation.
Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
Authors: Bing-Lei Wang, Fen-Lei Lu, Yu-Chen Sun, Hui-Juan Wang
Journal: Front Neurol (2022)
Keywords: arylsulfatase a (arsa), autosomal recessive inherited, case report, compound heterozygous mutations, metachromatic leukodystrophy (mld)
MeSH terms: Case Reports

Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disease, which is caused by mutations in the arylsulfatase A (ARSA) gene. The ARSA gene is located on chromosome 22q13, containing eight exons. According to the age of onset, MLD can be divided into late infantile type, juvenile type, and adult type. Adult MLD has an insidious onset after the age of 16 years. Additionally, intellectual as well as behavioral changes, such as memory deficits or emotional instability, are commonly the first presenting symptoms. There is a study that reported an adult-onset MLD manifested cognitive impairment progressively due to compound heterozygous mutations of NM_000487: c.[185_186dupCA], p.(Asp63GlnfsTer18), and NM_000487: c.[154G>T], p.(Gly172Cys), rs74315271 in the ARSA gene, finding that the c.[154G>T], p.(Gly172Cys) is a novel missense mutation. Brain magnetic resonance imaging (MRI) revealed symmetrical demyelination of white matter. The activity of ARSA enzymatic in leukocytes decreased. Nerve conduction studies displayed that evidence of polyneuropathy was superimposed upon diffuse, uniform demyelinating, and sensorimotor polyneuropathy. Family genes revealed that each family member carried one of two heterozygous mutant genes. She has been discharged and is currently being followed up. This study found a compound heterozygous mutation in the ARSA gene associated with MLD and identified a novel missense mutation NM_000487: c.[154G>T], p.(Gly172Cys), rs74315271. This will provide a critical clue for prenatal diagnosis of the offspring in this family, and expand the mutation spectrum of MLD-related ARSA.
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation
Authors: Melinda Erdős, Eszter Jakobicz, Beáta Soltész, Beáta Tóth, Zsuzsanna Bata-Csörgő, László Maródi
Journal: Front Immunol (2020)
Keywords: il-17-mediated immunity, stat1, gain-of-function mutation, mucocutaneous candidiasis, mucosal ulcers
MeSH terms: Candidiasis, Chronic Mucocutaneous / genetics, Gain of Function Mutation, STAT1 Transcription Factor / genetics, Stomatitis, Aphthous / genetics, Ulcer / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, CD4-Positive T-Lymphocytes / immunology, CD4-Positive T-Lymphocytes / metabolism, Candidiasis, Chronic Mucocutaneous / diagnosis, Candidiasis, Chronic Mucocutaneous / immunology, Candidiasis, Chronic Mucocutaneous / metabolism, Cell Differentiation, Cells, Cultured, Child, Preschool, Female, Genetic Predisposition to Disease, Heredity, Humans, Interleukin-17 / metabolism, Interleukins / metabolism, Nuclear Family, Phenotype, Phosphorylation, Recurrence, STAT1 Transcription Factor / metabolism, Severity of Illness Index, Stomatitis, Aphthous / diagnosis, Stomatitis, Aphthous / immunology, Stomatitis, Aphthous / metabolism, Ulcer / diagnosis, Ulcer / immunology, Ulcer / metabolism, IL17A protein, human, Interleukin-17, Interleukins, STAT1 Transcription Factor, STAT1 protein, human, interleukin-22

Chronic mucocutaneous candidiasis (CMC) characterized by persistent and recurrent Candida infection of the skin, nails, and the mucosa membranes has been proposed as the major infectious phenotype in patients with gain-of-function mutation of signal transducer and activator of transcription 1 (STAT1) 1. However, viral infections caused mostly by herpesviruses, and a broad range of autoimmune disorders may also be part of the clinical phenotype. We report here on a 31 years old female patient suffering from severe mucosal aphthous mucositis and ulcers and recurrent herpes simplex for decades. We found a previously unknown heterozygous sequence variant in STAT1 (c.1219C>G; L407V) affecting the DNA-binding domain of the protein in the patient and her 4 years old daughter. We found this mutation gain-of-function (GOF) by using immunoblot and luciferase assays. We detected low proportion of IL-17A-producing CD4+ T cell lymphocytes by using intracellular staining and flow cytometry. Candida-induced secretion of IL-17A and IL-22 by mononuclear cells from the patient was markedly decreased compared to controls. These data suggest that the novel mutant allele may result in impaired differentiation of CD4+ T cells to CD4+/IL-17+ cells. The clinical phenotype of the disease in this patient was unique as it was dominated primarily by severe aphthous stomatitis and ulcerative esophagitis and only partly by typical CMC resulting in diagnostic delay. We suggest that patients with severe recurrent aphthous stomatitis and esophagitis should be evaluated for STAT1 GOF mutation. Based on the broad clinical spectrum of the disease, we also suggest that CMC and CMC disease may not be an appropriate term to define clinically STAT1 GOF mutation.