OpenMed/multicare-articles huggingface dataset:
Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques
Authors: Qiong Pan, Hao Hu, Liangrong Han, Xin Jing, Hailiang Liu, Chuanchun Yang, Fengting Zhang, Yue Hu, Hongni Yue, Ying Ning
Journal: PLoS One (2016)
MeSH terms: Chromosomes, Human, Pair 15 / genetics, High-Throughput Nucleotide Sequencing / methods, Intellectual Disability / genetics, Sequence Analysis, DNA / methods, Trisomy, Case Reports, Research Support, Non-U.S. Gov't, Adult, Chromosome Aberrations, Chromosome Banding, Female, Genetic Predisposition to Disease, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide

Complex chromosome rearrangements (CCRs), which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS) and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS and conventional techniques including G-banding, fluorescence in situ hybridization (FISH) and PCR. The girl demonstrated CCRs involving chromosomes 3 and 8, while the CCRs of her mother involved chromosomes 3, 5, 8, 11 and 15. HumanCytoSNP-12 Chip analysis identified a 35.4 Mb duplication on chromosome 15q21.3-q26.2 in the proband and a 1.6 Mb microdeletion at chromosome 15q21.3 in her mother. The proband inherited the rearranged chromosomes 3 and 8 from her mother, and the duplicated region on chromosome 15 of the proband was inherited from the mother. Approximately one hundred genes were identified in the 15q21.3-q26.2 duplicated region of the proband. In particular, TPM1, SMAD6, SMAD3, and HCN4 may be associated with her heart defects, and HEXA, KIF7, and IDH2 are responsible for her developmental and mental retardation. In addition, we suggest that a microdeletion on the 15q21.3 region of the mother, which involved TCF2, TCF12, ADMA10 and AQP9, might be associated with mental retardation. We delineate the precise structures of the derivative chromosomes, chromosome duplication origin and possible molecular mechanisms for aberrant phenotypes by combining NGS data with conventional techniques.
Severe, Treatment-Refractory Periodontitis and Vitamin D Deficiency: A Multidisciplinary Case Report
Authors: Figliuzzi Michele Mario, Parentela Luca, Aiello Domenico, Altilia Simone
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Introduction:
Vitamin D deficiency and periodontitis are common diseases among people. These conditions interact with each other and worsen the patient's health. Modern dentistry aims to rehabilitate oral health and bring it back to the original state or even improve aesthetics. Without analysing the general health conditions of patients and without a multidisciplinary approach, it is sometimes not possible to solve a case such as we describe. This study shows how a vitamin D deficit can influence the choice of dental treatment. The patient, a 40-year-old woman, in generally good health, came to our observation complaining about pain during mastication, and profuse bleeding during home hygiene maneuvers. She wished to solve this situation.
Materials and methods:
Since the patient did not respond well to the initial periodontal therapy, we carried out some accurate research concerning the patient's previous clinical history, and as we suspected that a vitamin D deficit might be involved, a chemical test for vitamin D was carried out and the results confirmed our suspicions. The team programmed the following therapeutical plan: Phase 1-rehabilitation of normal values of vitamin D with the support of an endocrinologist; Phase 2-full mouth disinfection; Phase 3-periodontal surgical restorative therapy; and Phase 4-orthodontic therapy and fixed prosthetics rehabilitation.
Results:
The results for this clinical case were extremely satisfying; we were able to bring the periodontal illness under control; resolve the orthodontic problems; and rehabilitate the patient both functionally and aesthetically.
Conclusion:
Thanks to the collaboration and communication between specialists from different sectors of medicine and dentistry, the clinical case was solved with absolutely satisfactory results.
A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene
Authors: Dhillon B Zaver, Nathan T Douthit
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

The case describes a 25-year-old Caucasian female diagnosed with Alexander's disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomia. A full neurologic and hematologic workup yielded very little results, until a thorough literature search of her presenting complaints and radiologic findings pointed to adult-onset Alexander's Disease. Alexander's disease is a rare genetic leukodystrophy with a broad variety of presentations. Despite its infrequency in adults and the difficulty in diagnosis, the prevalence of AxD has been increasing due to ease of genetic analysis and identification of key clinical and radiological findings. This case illustrates the necessity of vigilance and persistence in the face of unusual patient presentations; occasionally, the sound of hoofbeats is zebras.
"Sandwich Therapy"-Immunotherapy Plus Concurrent Chemoradiotherapy for Advanced Esophagogastric Junction Carcinoma: Report of Two Cases and Literature Review
Authors: Lei Wu, Juan Liu, Long Liang, Mian Mao, Xiangpan Li, Tao Li, Jinyi Lang, Qifeng Wang
Journal: Front Oncol (2022)
Keywords: chemotherapy, concurrent chemoradiotherapy, esophagogastric junction carcinoma, immunotherapy, overall survival

Introduction:
Esophagogastric junction (EGJ) carcinomas develop in the transition zone between the esophagus and stomach. The incidence of EGJ carcinoma has steadily increased over the past few decades. Most patients are first diagnosed at an advanced stage, which renders them ineligible for surgery. Current methods for the treatment of advanced EGJ carcinoma include surgery, chemotherapy, local palliative therapy, and supportive care; however, none of these treatment methods has provided satisfactory therapeutic effects when used alone.
Case report:
We report two cases of patients with EGJ carcinoma who were sequentially treated with immunotherapy plus induction chemotherapy, followed by immunotherapy plus concurrent chemoradiotherapy and maintenance immunotherapy. Both patients achieved extended overall survival times with good quality of life with this new therapeutic approach.
Conclusion:
Immunotherapy plus chemoradiotherapy may therefore be a reasonable option for treatment of selected EGJ carcinoma patients. However, well-designed trials for the acquisition of additional evidence are required to validate the findings in this study.
West Nile Encephalitis, an Unusual Infection in a Chronic Lymphocytic Leukemia Patient
Authors: Manuel R Espinoza-Gutarra, Sherri L Cervantez, Zohra Nooruddin
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

CNS involvement by CLL is a rare occurrence, usually happening in the context of a transformation to a more aggressive lymphoma in what is known as Richter's transformation. We report a patient with active CLL who developed confusion and was found to have West Nile encephalitis that initially mimicked CNS involvement by CLL. The patient recovered with supportive treatment and later restarted ibrutinib therapy. This case illustrates the importance of maintaining a broad differential among cancer patients with new onset confusion as well as that of questioning malignant infiltration of CNS when there is concomitant active CNS infection.
Incidental Finding of the Anomalous Origin of Left Main Coronary Artery from Pulmonary Artery in an Adult Presenting with Arrhythmia-Induced Myocardial Ischemia
Authors: Shantanu Patil, Mahek Shah, Brijesh Patel, Lohit Garg, Larry Jacobs, Nauman Islam, Matthew Martinez
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Anomalous origin of the left main coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary anomaly with high mortality. It is associated with cardiovascular complications and is usually diagnosed soon after birth. Those who survive into adulthood can present with signs of myocardial infarction, heart failure, mitral regurgitation, severe pulmonary hypertension, or sudden cardiac death. We present a 53-year-old female presenting with atrial fibrillation and found to have an incidental diagnosis of ALCAPA who refused surgical correction. We also review the epidemiology, diagnosis, age-based clinical presentations, and treatment options for ALCAPA.
A Case of Invasive Aspergillus Rhinosinusitis Presenting with Unilateral Visual Loss and Subsequently Associated with Meningitis, Subarachnoid Hemorrhage, and Cerebral Infarction
Authors: Koji Tsuzaki, Kenji Murakata, Mayu Kamei, Akihiro Kikuya, Yuwa Oka, Toshiaki Hamano
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Visual impairment can occur because of several mechanisms, including optic nerve disease and occasionally fungal sinusitis. An 87-year-old man presented with the loss of right visual acuity; he was diagnosed with optic neuritis. Steroid pulse therapy was not effective. One month later, he became unconscious because of meningitis, following which treatment with ceftriaxone and acyclovir was initiated. However, his consciousness deteriorated because of a subarachnoid hemorrhage caused by a ruptured aneurysm. Meningitis and vascular invasion caused by fungal rhinosinusitis were suspected, and the sinus mucosa was biopsied. He was pathologically diagnosed with invasive Aspergillus rhinosinusitis. Despite continuous liposomal amphotericin B administration, he died of cerebral infarction, following a right internal carotid artery occlusion. It is important to consider the possibility of Aspergillus as an etiological agent, especially when cerebrovascular events are associated with visual impairment.
Prostatitis as initial manifestation of Chlamydia psittaci pneumonia diagnosed by metagenome next-generation sequencing: A case report
Authors: Mengjie Li, Biao Wang, Peng Liu, Huan Wang, Jian Zhu
Journal: Open Life Sci (2023)
Keywords: chlamydia psittaci, case report, initial manifestation, metagenomic next-generation sequencing, pneumonia, prostatitis
MeSH terms: Case Reports

Chlamydia psittaci (C. psittaci) pneumonia is a zoonotic infectious disease caused by C. psittaci, which is often underdiagnosed. The application of metagenomic next-generation sequencing (mNGS) provides an unbiased method for the detection of unknown pathogens. A 46-year-old man received empirical treatment with piperacillin-tazobactam and moxifloxacin after an initial diagnosis of prostatitis and pneumonia. However, he experienced recurrent symptoms and a cough, and a chest computed tomography (CT) showed aggravated pulmonary inflammation. Upon further questioning, the patient recalled a history of contact with pigeons, and a bronchoscope alveolar lavage fluid analysis with mNGS suggested C. psittaci infection. Following treatment with doxycycline, the patient's symptoms were rapidly alleviated, and chest CT showed pulmonary lesions absorption. The patient was followed up for 1 month without any discomfort. This case highlights that initial manifestations of C. psittaci pneumonia may present with atypical symptoms such as prostatitis. Furthermore, mNGS can be a useful tool for the detection of rare or unknown pathogens such as C. psittaci.
Paraneoplastic dermatomyositis associated with metastatic leiomyosarcoma of unknown primary
Authors: Eve Merry, Alannah Smrke, Kapil Halai, Gulam Patel, Khin Thway, Robin L Jones, Charlotte Benson
Journal: Clin Sarcoma Res (2020)
Keywords: chemotherapy, dermatomyositis, leiomyosarcoma, paraneoplastic, soft tissue sarcoma, tif1γ antibody
MeSH terms: Case Reports

Background:
Sarcomas are rare and heterogeneous tumours of mesenchymal origin, with over 100 histological subtypes. Paraneoplastic dermatomyositis has rarely been described in sarcoma. This is the first documented case of paraneoplastic dermatomyositis in a patient with metastatic leiomyosarcoma.
Case presentation:
A 43-year-old female diagnosed with metastatic leiomyosarcoma of unknown primary presented with a mild rash in sun-exposed areas of her face and upper chest, with no other neuromuscular symptoms. This rash resolved with systemic treatment with doxorubicin for metastatic leiomyosarcoma. Imaging assessment confirmed overall stable disease after chemotherapy completion. She presented acutely 2 months later with new onset rash in a shawl-like distribution, periorbital oedema and proximal muscle weakness. Based on the characteristic cutaneous signs and symmetrical proximal muscle weakness, abnormal electromyography and raised skeletal muscle enzymes with a positive anti-transcription intermediary factor-1 gamma antibody result, a diagnosis of paraneoplastic dermatomyositis was made. Re-evaluation of her metastatic leiomyosarcoma revealed disease progression. Second-line chemotherapy was commenced once the dermatomyositis was controlled on steroid therapy. Systemic anti-cancer therapy was again associated with mild improvement in dermatomyositis symptoms.
Discussion:
Paraneoplastic dermatomyositis heralded disease progression after first-line chemotherapy; however, in hindsight, subtle cutaneous features were present at sarcoma diagnosis. The temporal relationship between paraneoplastic dermatomyositis and metastatic leiomyosarcoma is key in this case, as fluctuations in dermatomyositis severity correlated with growth of metastatic disease. Understanding this relationship may provide clues for tumour progression and prompt timely initiation of anti-cancer therapy. It is important to recognise that in addition to the more common cancers associated with paraneoplastic dermatomyositis, it can also occur in rarer tumours such as leiomyosarcoma.
Case Report: An MRI Traumatic Brain Injury Longitudinal Case Study at 7 Tesla: Pre- and Post-injury Structural Network and Volumetric Reorganization and Recovery
Authors: Stephanie S G Brown, Kristen Dams-O'Connor, Eric Watson, Priti Balchandani, Rebecca E Feldman
Journal: Front Neurol (2021)
Keywords: 7t mri, case study, diffusion mri, structural connectivity, traumatic brain injury
MeSH terms: Case Reports

Importance: A significant limitation of many neuroimaging studies examining mild traumatic brain injury (mTBI) is the unavailability of pre-injury data. Objective: We therefore aimed to utilize pre-injury ultra-high field brain MRI and compare a collection of neuroimaging metrics pre- and post-injury to determine mTBI related changes and evaluate the enhanced sensitivity of high-resolution MRI. Design: In the present case study, we leveraged multi-modal 7 Tesla MRI data acquired at two timepoints prior to mTBI (23 and 12 months prior to injury), and at two timepoints post-injury (2 weeks and 8 months after injury) to examine how a right parietal bone impact affects gross brain structure, subcortical volumetrics, microstructural order, and connectivity. Setting: This research was carried out as a case investigation at a single primary care site. Participants: The case participant was a 38-year-old female selected for inclusion based on a mTBI where a right parietal impact was sustained. Main outcomes: The main outcome measurements of this investigation were high spatial resolution structural brain metrics including volumetric assessment and connection density of the white matter connectome. Results: At the first scan timepoint post-injury, the cortical gray matter and cerebral white matter in both hemispheres appeared to be volumetrically reduced compared to the pre-injury and subsequent post-injury scans. Connectomes produced from whole-brain diffusion-weighted probabilistic tractography showed a widespread decrease in connectivity after trauma when comparing mean post-injury and mean pre-injury connection densities. Findings of reduced fractional anisotropy in the cerebral white matter of both hemispheres at post-injury time point 1 supports reduced connection density at a microstructural level. Trauma-related alterations to whole-brain connection density were markedly reduced at the final scan timepoint, consistent with symptom resolution. Conclusions and Relevance: This case study investigates the structural effects of traumatic brain injury for the first time using pre-injury and post-injury 7 Tesla MRI longitudinal data. We report findings of initial volumetric changes, decreased structural connectivity and reduced microstructural order that appear to return to baseline 8 months post-injury, demonstrating in-depth metrics of physiological recovery. Default mode, salience, occipital, and executive function network alterations reflect patient-reported hypersomnolence, reduced cognitive processing speed and dizziness.
Vision Loss Secondary to Meningioma in the Pregnant Patient
Authors: Matthew B Greenberg, Nandini Venkateswaran, Ann Q Tran, Ranya G Habash, Wendy W Lee
Journal: J Clin Ophthalmol Eye Disord (2017)

A 31-year-old primagravid female at 27 weeks gestation presented to the emergency room with three weeks of progressive blurring of vision associated with intermittent headaches. Ocular examination revealed diminished visual acuity, decreased color discrimination, and constricted confrontation visual fields; optic nerve appearance was however normal. Magnetic resonance imaging of the brain and orbits revealed a large tuberculum meningioma compressing the optic chiasm and prechiasmatic optic nerves, as well as a small sphenoid wing meningioma. Given the risk of permanent vision loss, the patient underwent emergent tumor resection. Near total resection of the masses was achieved and the patient had complete resolution of her vision post-operatively. She gave birth via Caesarean section at 39 weeks. This case report describes the clinical presentations of intracranial meningiomas and discusses the challenges this condition poses in management during pregnancy.
Acute and delayed toxicity from co-ingestion of methylene chloride and methanol
Authors: Todd A Jaffe, Edward W Boyer, Timothy B Erickson, Heather Studley, Bryan D Hayes, Peter R Chai
Journal: Toxicol Commun (2019)
Keywords: carbon monoxide, methylene chloride, case report, methanol

Methylene chloride is a volatile, chlorinated hydrocarbon and colorless solvent found in multiple industrial products including paint strippers, metal cleaners, automotive products, pesticides and aerosol containers. Occupational exposure to methylene chloride is reported in automotive technicians, painters, and other industrial workers with adverse health effects including gastrointestinal, neurological, as well as hepato-renal injuries. International Agency for Research on Cancer (IARC) classifies methylene chloride as a 2 A carcinogen. Through a series of reactions catalyzed by cytochrome P450 2E1 (CYP2E1), metabolism of methylene chloride leads to the formation of formyl chloride, and ultimately carbon monoxide (CO). Most reports of methylene chloride toxicity are due to dermal and inhalational exposure in occupational settings. Ingestion of methylene chloride is uncommon, yet can lead to significant toxicity and prolonged CO toxicity. Methylene chloride is frequently formulated with methanol; individuals who intentionally ingest methylene chloride can experience concomitant methanol toxicity. We present a case of acute ingestion of paint stripper containing methanol and methylene chloride. We discuss the clinical presentation, key management decisions, relevant pathophysiology and biochemistry, as well as the clinical course and management.
Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome
Authors: Yuheng Lang, Yue Zheng, Bingcai Qi, Weifeng Zheng, Chengxiu Zhao, Hu Zhai, Gang Wang, Zhiqiang Luo, Tong Li
Journal: Front Genet (2023)
Keywords: chip, holt–oram syndrome, snp, tbx5, case report
MeSH terms: Case Reports

Introduction: Holt-Oram syndrome (HOS) is a rare genetic disorder characterized by upper limb abnormalities, congenital heart defects, and/or conduction abnormalities. Sequence alteration of T-box transcription factor 5 (TBX5) is correlated with the incidence of HOS. Case description: We present the case of a 24-year-old female with upper limb alterations (congenital dysplasia in the wrist and elbow joints) and an anomalous left main trunk arising from the right coronary sinus. The patient inherited a base T (reference C) at rs883079 from her mother and base C (reference T) at rs10850326 from her father, both of which belong to the 3'-untranslated region (UTR) of the TBX5 gene; no alterations in TBX5 expression or single-nucleotide polymorphisms (SNPs) in other exon areas were found. We explored the effects of TBX5 on cardiomyocytes using the HL-1 cell line and TBX5-knockdown cells. Discussion: Quantitative polymerase chain reaction analysis demonstrated that TEKT2, TEKT4, and SPTB expression decreased after TBX5 knockdown, while chromatin immunoprecipitation analysis further revealed that TBX5 binds to the TEKT2, TEKT4, and SPTB promoter regions to promote gene transcription. Our findings support a novel TBX5-related pathogenic mechanism in HOS.
Genomic characterization of Escherichia coli LCT-EC001, an extremely multidrug-resistant strain with an amazing number of resistance genes
Authors: Xuelin Zhang, Saisong Xiao, Xuege Jiang, Yun Li, Zhongyi Fan, Yi Yu, Peng Wang, Diangeng Li, Xian Zhao, Changting Liu
Journal: Gut Pathog (2019)
Keywords: antibiotic resistance, esbl, escherichia coli, high-throughput sequencing, kpc
MeSH terms: Case Reports

Background:
Multidrug resistance is a growing global public health threat with far more serious consequences than generally anticipated. In this study, we investigated the antibiotic resistance and genomic traits of a clinical strain of Escherichia coli LCT-EC001.
Results:
LCT-EC001 was resistant to 16 kinds of widely used antibiotics, including fourth-generation cephalosporins and carbapenems. In total, up to 68 determinants associated with antibiotic resistance were identified, including 8 beta-lactamase genes (notably producing ESBLs and KPCs), 31 multidrug efflux system genes, 6 outer membrane transport system genes, 4 aminoglycoside-modifying enzyme genes, 10 two-component regulatory system genes, and 9 other enzyme or transcriptional regulator genes, covering nearly all known drug-resistance mechanisms in E. coli. More than half of the resistance genes were located close to mobile genetic elements, such as plasmids, transposons, genomics islands, and insertion sequences. Phylogenetic analysis revealed that this strain may have evolved from E. coli K-12 but is a completely new MLST type.
Conclusions:
Antibiotic resistance was extremely severe in E. coli LCT-EC001, mainly due to mobile genetic elements that allowed the gain of a large quantity of resistance genes. The antibiotic resistance genes of E. coli LCT-EC001 can probably be transferred to other bacteria. To the best of our knowledge, this is the first report of a strain of E. coli which has such a large amount of antibiotic resistance genes. Apart from providing an E. coli reference genome with an extremely high multidrug-resistant background for future analyses, this work also offers a strategy for investigating the complement and characteristics of genes contributing to drug resistance at the whole-genome level.