OpenMed/multicare-articles huggingface dataset:
Successful Management of a Huge Pulmonary Hydatid Cyst with Lung-Preserving Surgery
Authors: Armin Amirian, Bizhan Ziaian, Amirhossein Erfani, Reza Shahriarirad, Keivan Ranjbar
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

The lung is the second most commonly involved organ in humans by hydatid disease. Management of large pulmonary hydatid cysts is a great challenge for thoracic surgeons. Lung resections should be considered the last choice for huge pulmonary hydatid cysts when the lung expansion is not optimal after cyst removal. Here, we present a case of huge lung hydatid cyst involving the entire right lower lobe which was successfully managed by lung-preserving surgery in which the postoperative course showed gradual resolution of the involved lobe during a one-year follow-up.
A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation
Authors: Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Ming-Li Li, Han Wang, Qing Lin, Chi-Meng Tzeng
Journal: Front Aging Neurosci (2016)
Keywords: ccm2, biomarker, familial cerebral cavernous malformations (fccm), mutation, pathogenesis, susceptibility-weighted imaging (swi)
MeSH terms: Case Reports

Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions. Results: Four heterozygous variants in the CCM2 gene, including one deletion (c.95delC), a missense mutation (c.358G>A, p.V120I), one silent mutation (c.915G>A, p.T305T), and a substitution (c. *1452 T>C), were identified in the subjects with multiple CCM lesions, but not in a healthy sibling. Among these variants, the c.95delC deletion is a novel mutation which is expected to cause a premature termination codon. It is predicted to produce a truncated CCM2 protein lacking the PTB and C-terminal domains, thus disrupting the molecular functions of CCM2. Conclusions: The novel truncating mutation in the CCM2 gene, c.95delC, may be responsible for multiple CCM lesions in a part of FCCM. In addition, it may represent a potential genetic biomarker for early diagnosis of FCCM.
Intestinal pseudo-obstruction as an unusual gastrointestinal presentation in pediatric human immunodeficiency virus infection
Authors: Mozhgan Zahmatkeshan, Mahmood Haghighat, Mohammad Hadi Imanieh
Journal: Iran J Med Sci (2014)
Keywords: abdominal pain, children, hiv, intestinal pseudo-obstruction
MeSH terms: Case Reports

Intestinal pseudo-obstruction is a condition in which the intestine's ability to push food through is reduced. It often leads to the dilation of the various parts of the bowel. It can be idiopathic or inherited from a parent, or caused by another disease. We report a rare case of human immunodeficiency virus (HIV) infection in a 3-year-old boy who referred with acute abdominal pain, and was later diagnosed as having intestinal pseudo-obstruction caused by HIV. The underlying causes of intestinal pseudo-obstruction should be taken into account. HIV induced pseudo-obstruction may be considered in the differential diagnosis of pediatric intestinal pseudo-obstruction in order to provide a timely diagnosis and optimal care of children with HIV.
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine
Authors: Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon
Journal: Case Rep Genet (2022)
MeSH terms: Case Reports

Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1. It classically presents as intractable infantile-onset seizures unresponsive to multiple antiepileptic drugs (AEDs) but with a profound response to large doses of pyridoxine (B6). We report a case of PDE with an atypical clinical presentation. The patient presented at 3 days of life with multifocal seizures, fever, increased work of breathing, decreased left ventricular systolic function, and lactic acidosis, raising suspicion for a mitochondrial disorder or infectious process. Within 1.5 weeks of presentation, seizure activity resolved with antiepileptic therapy. Whole exome sequencing (WES) revealed homozygous pathogenic variants in ALDH7A1 (c.1279G > C, p.E427Q) and confirmed the diagnosis of PDE. Follow-up biochemical testing demonstrated elevated urine pipecolic acid. In the second week of life, the patient was initiated on triple therapy, including pyridoxine supplementation, low lysine diet, and arginine supplementation, which he tolerated well. Urine pipecolic acid levels responded accordingly after initiation of therapy. Our case illustrates the diagnostic challenges in PDE, the utility of rapid WES in such cases, and the response in urine pipecolic acid to therapy.
Crohn's Disease Complicated by Rare Types of Intestinal Obstruction: Two Case Reports
Authors: Kai Xia, Renyuan Gao, Xiaocai Wu, Yu Ruan, Jian Wan, Tianqi Wu, Fangtao Wang, Yin Lin, Lu Yin, Chunqiu Chen
Journal: Front Med (Lausanne) (2022)
Keywords: crohn’s disease, capsule endoscopy, internal hernia, intestinal obstruction, minimally invasive surgery
MeSH terms: Case Reports

Intestinal obstruction is one of the most common complications of Crohn's disease (CD), jeopardizing the quality of life of patients. Numerous factors may contribute to intestinal obstruction in CD. Thus far, the primary reason has been identified as intestinal fibrosis caused by repeated chronic inflammation during the active phase of CD. Herein, we report two rare complicated CD cases and provide a reference for the clinical diagnosis and treatment of similar patients. Case one involves capsule endoscope retention in the small intestine of one CD patient concurrent with intestinal obstruction. Case two is a CD patient with intestinal obstruction caused by a mesangial hernia and ileal stenosis. Individualized and minimally invasive surgical intervention ultimately resulted in the successful management of these two patients. The two cases serve as an excellent guide for diagnosing and treating CD patients who present with similar symptoms.
Inflammatory Myo-Fibroblastic Tumor of the Gallbladder with Multivisceral Involvement: Successful Treatment with Radical Surgery
Authors: Kwanchanok Losuwarat, Vor Luvira, Vasin Thanasukarn, Theerawee Tipwaratorn, Piti Ungarreevittaya
Journal: Case Reports Hepatol (2023)
MeSH terms: Case Reports

Inflammatory myo-fibroblastic tumor (IMT) of the gallbladder is an extremely rare condition. Only seven cases have been reported. All of these were presented either with polyp/mass inside the gallbladder or gallbladder wall thickening, involving just one adjacent organ. We herein present a case of IMT of gallbladder presenting with a huge mass replacing the gallbladder with multiple organ involvement, successfully treated by en bloc multivisceral resection. Moreover, we have compared it with the characteristics of all reported cases of IMT of the gallbladder.
Chronic Shoulder Dislocation on the Unaffected Side of a Patient With Hemiparesis
Authors: Tomohiko Sano
Journal: Cureus (2023)
Keywords: chronic anterior shoulder dislocation, hemiparesis, latarjet's procedure, open reduction, weight-bearing shoulder
MeSH terms: Case Reports

Chronic shoulder dislocation has been noted to be difficult to cure due to concomitant injuries of the soft tissue, articular cartilage, and bone. The present study reports a rare case of a patient with hemiparesis suffering chronic shoulder dislocation on the unaffected side. The patient was a 68-year-old female. She developed left hemiparesis due to cerebral bleeding at 36 years of age. Her right shoulder was dislocated for three months. A computed tomography scan and magnetic resonance imaging (MRI) showed a significant anterior glenoid defect, and the subscapularis, supraspinatus, and infraspinatus were atrophic. An open reduction with transfer of the coracoid, Latarjet's method was performed. The rotator cuffs were simultaneously repaired using McLaughlin's method. The glenohumeral joint was temporarily fixed with Kirschner wires for three weeks. There was no redislocation during the 50-month follow-up period. Even though radiographs noted progression of osteoarthritis in the glenohumeral joint, the patient reacquired shoulder function for ativities of daily living including weight-bearing ability.
Granular cell tumor of the trachea as a rare cause of dyspnea in a young woman
Authors: A Rizzo, E D Serban, A D Ricci, M Nannini, M Saponara, A Cancellieri, D Paioli, R Trisolini, M A Pantaleo
Journal: Respir Med Case Rep (2019)
Keywords: airway tumors, s-100, trachea, tracheal granular cell tumor, tracheal malignancies
MeSH terms: Case Reports

Tracheal granular cell tumors are rare neurogenic neoplasms characterized by an indolent behavior. We report the case of a young woman affected by this tumor with non-specific clinical presentation. We performed a literature search in order to identify all the cases of tracheal granular cell tumor and to summarize the current state of knowledge about this rare disease.
Takotsubo Syndrome Associated with ST Elevation Myocardial Infarction
Authors: Saad Ezad, Michael McGee, Andrew J Boyle
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Background:
Takotsubo syndrome is a reversible heart failure syndrome which often presents with symptoms and ECG changes that mimic an acute myocardial infarction. Obstructive coronary artery disease has traditionally been seen as exclusion criteria for the diagnosis of takotsubo; however, recent reports have called this into question and suggest that the two conditions may coexist.
Case summary:
We describe a case of an 83-year-old male presenting with chest pain consistent with acute myocardial infarction. The ECG demonstrated anterior ST elevation with bedside echocardiography showing apical wall motion abnormalities. Cardiac catheterisation found an occluded OM2 branch of the left circumflex artery with ventriculography confirming apical ballooning consistent with takotsubo and not in the vascular territory supplied by the occluded epicardial vessel. Repeat echocardiogram 6 weeks later confirmed resolution of the apical wall motion abnormalities consistent with a diagnosis of takotsubo.
Discussion:
This case demonstrates the finding of takotsubo syndrome in a male patient with acute myocardial infarction. Traditionally, this would preclude a diagnosis of takotsubo; however, following previous reports of takotsubo in association with coronary artery dissection and acute myocardial infarction in female patients, new diagnostic criteria have been proposed which allow the diagnosis of takotsubo in the presence of obstructive coronary artery disease. This case adds to the growing body of literature that suggests takotsubo can coexist with acute myocardial infarction; however, it remains to be elucidated if it is a consequence or cause of myocardial infarction.
Bevacizumab: A Rare Cause of Nonischemic Cardiomyopathy
Authors: Oreoluwa Oladiran, Salik Nazir
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Left ventricular dysfunction is a rare side effect of bevacizumab occurring in 2-4% of cases. We report the case of a 68-year-old woman who presented to the emergency department (ED) with sudden onset of shortness of breath, orthopnea, and paroxysmal nocturnal dyspnea. She was tachypneic and in respiratory distress. Physical examination revealed jugular venous distention, diffuse expiratory wheeze, and bipedal edema. She had been started on bevacizumab for the treatment of hereditary hemorrhagic telangiectasia 1 month prior to presentation. Laboratory tests revealed BNP of 1697 pg/ml with slightly elevated troponin 0.05 ng/ml. Chest X-ray showed interstitial edema with cardiomegaly, and transthoracic echocardiogram showed ejection fraction of 30% with global hypokinesia. Left heart catheterization revealed widely patent coronary arteries. Flash pulmonary edema secondary to acute left ventricular dysfunction in this case was attributed to recent treatment with bevacizumab after ruling out other possible etiologies. This case highlights the importance of early recognition of this rare but potentially reversible side effect of bevacizumab to prevent long-term sequelae.
Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
Authors: Carrie Guy, Xianfu Wang, Xianglan Lu, Jin Lu, Shibo Li
Journal: Mol Cytogenet (2015)
Keywords: array cgh, central nervous system abnormalities, chiari i malformation, chromosome 22q11, deletion, duplication, microarray, semilobar holoprosencephaly
MeSH terms: Case Reports

Background:
Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.
Case presentation:
We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.
Conclusions:
This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.
Designing a synthetic microbial community devoted to biological control: The case study of Fusarium wilt of banana
Authors: Maria Isabella Prigigallo, Carmen Gómez-Lama Cabanás, Jesús Mercado-Blanco, Giovanni Bubici
Journal: Front Microbiol (2022)
Keywords: bacillus velezensis, fusarium oxysporum f sp cubense, pseudomonas chlororaphis subsp piscium, trichoderma virens, beneficial microbes, biological control agents, microbial consortia

Fusarium oxysporum f. sp. cubense (Foc) tropical race 4 (TR4) is threatening banana production because of its increasing spread. Biological control approaches have been widely studied and constitute interesting complementary measures to integrated disease management strategies. They have been based mainly on the use of single biological control agents (BCAs). In this study, we moved a step forward by designing a synthetic microbial community (SynCom) for the control of Fusarium wilt of banana (FWB). Ninety-six isolates of Pseudomonas spp., Bacillus spp., Streptomyces spp., and Trichoderma spp. were obtained from the banana rhizosphere and selected in vitro for the antagonism against Foc TR4. In pot experiments, a large community such as SynCom 1.0 (44 isolates with moderate to high antagonistic activity) or a small one such as SynCom 1.1 (seven highly effective isolates) provided similar disease control (35% symptom severity reduction). An in vitro study of the interactions among SynCom 1.1 isolates and between them and Foc revealed that beneficial microorganisms not only antagonized the pathogen but also some of the SynCom constituents. Furthermore, Foc defended itself by antagonizing the beneficial microbes. We also demonstrated that fusaric acid, known as one of the secondary metabolites of Fusarium species, might be involved in such an interaction. With this knowledge, SynCom 1.2 was then designed with three isolates: Pseudomonas chlororaphis subsp. piscium PS5, Bacillus velezensis BN8.2, and Trichoderma virens T2C1.4. A non-simultaneous soil application of these isolates (to diminish cross-inhibition) delayed FWB progress over time, with significant reductions in incidence and severity. SynCom 1.2 also performed better than two commercial BCAs, BioPak® and T-Gro. Eventually, SynCom 1.2 isolates were characterized for several biocontrol traits and their genome was sequenced. Our data showed that assembling a SynCom for biocontrol is not an easy task. The mere mixtures of antagonists (e.g., SynCom 1.0 and 1.1) might provide effective biocontrol, but an accurate investigation of the interactions among beneficial microorganisms is needed to improve the results (e.g., SynCom 1.2). SynCom 1.2 is a valuable tool to be further developed for the biological control of FWB.
Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma with L3 Morphology, Philadelphia Chromosome, MYC Gene Translocation, and Coexpression of TdT and Surface Light Chains: A Case Report
Authors: Alicia C Hirzel, Aaron Cotrell, Robert Gasparini, Vathany Sriganeshan
Journal: Case Rep Pathol (2013)

Acute lymphoblastic leukemia is predominantly found in children. It is a neoplasm of precursor cells or lymphoblasts committed to either a B- or T-cell lineage. The immature cells in B-acute lymphoblastic leukemia/lymphoma can be small or medium sized with scant or moderate cytoplasm and typically express B-cell markers such as CD19, cytoplasmic CD79a, and TdT without surface light chains. These markers, along with cytogenetic studies, are vital to the diagnosis, classification, and treatment of these neoplasms. We present an unusual case of a precursor B-cell ALL, in an 82-year-old woman, who presented with pancytopenia and widespread lymphadenopathy. The cells show L3 morphology (Burkitt-like lymphoma) with coexpression of TdT and surface light chains in addition to an MYC gene translocation and Philadelphia chromosome.
Renal Cell Carcinoma Arising from Isthmus of Horseshoe K
Authors: Sanjay M Khaladkar, Sai Sabari Vinay Kumar Parripati, Deepak Koganti, Satvik Dhirawani, Urvashi Agarwal
Journal: J Kidney Cancer VHL (2023)
Keywords: fusion anomaly, horseshoe kidney, renal cell carcinoma
MeSH terms: Case Reports

The most common congenital renal fusion anomaly is the horseshoe kidney (HSK) occurring in about 1 in 600-700 individuals in the Indian population. HSKs are associated with problems such as renal stones, obstruction of uretero-pelvic junction causing stasis, and infection due to ectopic location of the kidneys, malrotation of the kidneys, and vascular changes. In general, normally developed kidneys have more incidents of renal cell carcinoma (RCC) as compared to HSKs. The major issue arises during surgery of HSK due to their altered anatomy and aberrant blood supply. We present a case of HSK with RCC located in the isthmus of a 43-year-old woman.
Impact of Repetitive Transcranial Magnetic Stimulation on Neurocognition and Oxidative Stress in Relapsing-Remitting Multiple Sclerosis: A Case Report
Authors: Eduardo Agüera, Javier Caballero-Villarraso, Montserrat Feijóo, Begoña M Escribano, María C Bahamonde, Cristina Conde, Alberto Galván, Isaac Túnez
Journal: Front Neurol (2020)
Keywords: case report, compassionate use trial, disability, multiple sclerosis, neuroplasticity, oxidative stress, psychometry, transcranial magnetic stimulation
MeSH terms: Case Reports

Multiple sclerosis (MS) is a neurodegenerative condition whose manifestation and clinical evolution can present themselves in very different ways. Analogously, its treatment has to be personalized and the patient's response may be idiosyncratic. At this moment there is no cure for it, in addition to its clinical course sometimes being torpid, with a poor response to any treatment. However, Transcranial Magnetic Stimulation (TMS) has demonstrated its usefulness as a non-invasive therapeutic tool for the treatment of some psychiatric and neurodegenerative diseases. Some studies show that the application of rTMS implies improvement in patients with MS at various levels, but the effects at the psychometric level and the redox profile in blood have never been studied before, despite the fact that both aspects have been related to the severity of MS and its evolution. Here we present the case of a woman diagnosed with relapsing-remitting multiple sclerosis (RRMS) at the age of 33, with a rapid progression of her illness and a poor response to different treatments previously prescribed for 9 years. In view of the patient's clinical course, a compassionate treatment with rTMS for 1 year was proposed. Starting from the fourth month of treatment, when reviewing the status of her disease, the patient denoted a clear improvement at different levels. There followed out psychometric evaluations and blood analyses, that showed both an improvement in her neuropsychological functions and a reduction in oxidative stress in plasma, in correspondence with therTMS treatment.
Saved by the SPY: Ulnar Artery Reconstruction With LCFA Graft for Hypothenar Hammer Syndrome
Authors: Zachary S Gala, Haripriya Ayyala, Stephen L Viviano, Ashley Ignatiuk
Journal: Eplasty (2020)
Keywords: hypothenar hammer syndrome, intraoperative icg, intraoperative spy, lateral femoral circumflex artery (lcfa) graft, ulnar artery thrombosis
MeSH terms: Case Reports

Introduction: Hypothenar Hammer syndrome refers to thrombosis/aneurysm of ulnar artery at Guyon's canal in wrist, with resultant arterial insufficiency in the ulnar artery distribution.1 Patients typically describe unilateral symptoms in the fourth and/or fifth fingers of the hand. Symptoms can range from asymptomatic to pain, pallor, paresthesia, weakness, cold intolerance, and eventually ulceration, necrosis, and gangrene of the distal digits.1 Treatment options range from conservative, lifestyle management, to medication, and ultimately to surgical intervention. In this case report, we outline the second successful lateral circumflex femoral artery (LCFA) graft reconstruction of the ulnar artery in the setting of Hypothenar Hammer Syndrome conducted by the senior author. However, during this procedure, the use of intraoperative intravenous (IV) injection of indocyanine green (ICG) dye (hereafter ICG) imaging helped identify an additional area of stenosis previously unseen on pre-operative MRA, therefore enabling us to perform a more adequate resection and repair. To our knowledge, the use of intraoperative ICG for Hypothenar Hammer Syndrome and/or ulnar artery reconstruction has not been documented in the literature.