OpenMed/multicare-articles huggingface dataset:
Case report: Anti-NMDA receptor encephalitis manifesting as rapid weight loss and abnormal movement disorders with alternating unilateral ptosis and contralateral limb tremor
Authors: Yue Han, Sizhu Gong, Yafei Wan, Xiyao Fu, Enling He, Min Liu, Fang Deng
Journal: Front Immunol (2022)
Keywords: anti-nmda receptor encephalitis, autoimmune encephalitis, limb tremor, rapid weight loss, topiramate, unilateral ptosis
MeSH terms: Anti-N-Methyl-D-Aspartate Receptor Encephalitis / complications, Anti-N-Methyl-D-Aspartate Receptor Encephalitis / diagnosis, Anti-N-Methyl-D-Aspartate Receptor Encephalitis / therapy, Dyskinesias / drug therapy, Movement Disorders / complications, Movement Disorders / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Autoantibodies / cerebrospinal fluid, Female, Humans, Immunoglobulin G / therapeutic use, Immunoglobulins, Intravenous / therapeutic use, Steroids / therapeutic use, Topiramate / therapeutic use, Tremor / complications, Tremor / drug therapy, Weight Loss, Autoantibodies, Immunoglobulin G, Immunoglobulins, Intravenous, Steroids, Topiramate

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, associated with immunoglobulin G (IgG) autoantibodies against the GluN1 subunit of the NMDAR, is one of the most common types of autoimmune encephalitis. In patients with anti-NMDAR encephalitis, movement disorders (MDs) are often frequent, mainly presenting as facial dyskinesias and stereotyped movements. The alternating clinical manifestation of limb tremor with unilateral ptosis is rare. Here, we report an interesting case of a 22-year-old woman with rapid weight loss presenting with staged dyskinesia. Interestingly, she typically showed persistent tremor of the right upper limb, which would stop when her left upper eyelid drooped uncontrollably, a phenomenon that lasted for a few seconds, followed by automatic upper eyelid lift and continued persistent tremor of the upper limb. Moreover, it was fortunate to find anti-NMDAR antibodies in her cerebrospinal fluid (CSF), which indicated the patient had anti-NMDAR encephalitis. And abnormal apparent diffusion coefficient (ADC) hyperintense signals on the left midbrain interpeduncular fossa explained this manifestation of focal neurological deficit. After the systematic administration of immunotherapy (intravenous immunoglobulin, IVIG), steroid pulse therapy, and symptomatic treatment, the initial symptoms were significantly relieved except for limb tremor. The MDs were becoming less visible for the next six months under topiramate prescriptions. Noteworthy, there are no specific MD phenotypes in anti-NMDAR encephalitis. We describe the young women with unique MDs and rapid weight loss to help us get a more comprehensive understanding of anti-NMDAR encephalitis.
Avulsion of the Femoral Attachment of the Medial Collateral Ligament of the Knee Associated to Complete Tear of the Posterior Cruciate Ligament: A Case Report
Authors: Sleiman Haddad, Andrea Sallent, Joan Minguell, Enric Castellet
Journal: Surg J (N Y) (2017)
Keywords: combined ligament injuries, knee ligament injuries, medial collateral ligament avulsion, posterior cruciate ligament tear, surgical repair
MeSH terms: Case Reports

Medial collateral ligament (MCL) of the knee is one of the most commonly injured ligaments of the knee. Incidence of posterior cruciate ligament (PCL) injuries can vary widely. Conservative treatment has shown good clinical outcomes and relatively rapid return to play in both injuries alone. We present the case of a 38-year-old male who presented a combined MCL avulsion injury and PCL tear treated surgically. The PCL was reconstructed using the double-bundle Achilles allograft technique. Within the same surgery, a medial femoral incision was performed to reinsert the avulsion of the bone fragment rotated and distally retracted together with the MCL with bone anchors and Spike Washer. Two years after surgery, the patient enjoyed a 0/140-degree range of motion for flexion/extension. He had returned to sports and was pain-free. In conclusion, femoral avulsion of the MCL associated to PCL injury is a rare and nondescribed injury that, as opposed to most MCL isolated injuries, might benefit from early surgical reconstruction.
Pneumothorax by Penetrating Endplate Screw for Diffuse Idiopathic Skeletal Hyperostosis-Related Thoracolumbar Fracture
Authors: Kentaro Yamada, Yusuke Hori, Toshitaka Yoshii, Shunki Iemura, Atsushi Okawa
Journal: Cureus (2023)
Keywords: diffuse idiopathic skeletal hyperostosis (dish), pedicle screw, penetrating endplate screw, pneumothorax ptx, spine, surgery, surgical complication, thoracolumbar, trauma, vertebral fracture
MeSH terms: Case Reports

Pneumothorax is a rare surgical complication in spinal surgery with thoracic pedicle screws. The penetrating endplate screw (PES) technique has been developed as a strong alternative spinal anchor to conventional pedicle screws for diffuse idiopathic skeletal hyperostosis (DISH). We present an intraoperative pneumothorax without deviation to the thoracic during the maneuver of the PES. A 56-year-old male who presented with non-union of DISH-related T12 vertebral fracture underwent T12 kyphoplasty and T10-L2 posterior fixation using the PES technique. The left pneumothorax was developed postoperatively without screw deviation to the thorax throughout screw insertion. Postoperative CT suggested that a displaced rib head by the lateral misposition of the screw at the inserting point and the pedicle level might injure the pleura. Spine surgeons should know that the lateral insertion of PES has a potential risk for pneumothorax by the displacement of the rib head because of screw trajectory from caudal to cranial apart from conventional pedicle screw.
Hybrid Surgery Options for Complex Clinical Scenarios in Adult Patients with Congenital Heart Disease: Three Case Reports
Authors: Filippo Rapetto, Damien Kenny, Mark Turner, Andrew Parry, Serban Stoica, Orhan Uzun, Massimo Caputo
Journal: Front Surg (2017)
Keywords: achd, cardiac surgery, hybrid surgery, paravalvular leak, pulmonary valve replacement
MeSH terms: Case Reports

The strategy for the management of adult patients with congenital heart disease (CHD) often represents a challenge for cardiac surgeons and cardiologists due to complex anatomy, wide range of clinical presentations, and a high-risk profile. However, hybrid approach may represent an attractive solution. We report three cases of adult patients previously operated for CHD and recently treated with a hybrid approach in our institution. Case 1: a 76-year-old woman with permanent atrial fibrillation, lung disease, chronic kidney disease, microcytic anemia, and type II diabetes mellitus, previously operated for atrial septal defect closure and pulmonary valvotomy, presented with severe pulmonary regurgitation and advanced right ventricular failure. In order to minimize the surgical risk, a hybrid approach was used: an extensive right ventricular outflow tract (RVOT) plication was followed by implantation of an Edwards Sapien XT prosthesis in the RVOT through the right ventricular apex, without cardiopulmonary bypass. Case 2: a 64-year-old man with previous atrial septum excision and pericardial baffle for partial anomalous pulmonary venous drainage with intact interatrial septum, presented with worsening dyspnea, right ventricular failure, and pulmonary hypertension caused by baffle stenosis. His comorbidities included coronary artery disease, atrial flutter, and previous left pneumonectomy. After performing a redo longitudinal median sternotomy, a 20-mm stent was implanted in the baffle with access through the superior vena cava. Case 3: a 50-year-old man, with previous atrioventricular septal defect repair, followed by mitral valve replacement with a mechanical prosthesis, subsequently developed a paravalvular leak (PVL) with severe mitral regurgitation and severe left ventricular dysfunction. He underwent a transapical PVL device closure with two Amplatzer Vascular Plugs. In our opinion, hybrid surgery is a promising therapeutic modality that increases the available treatment options for this patient population. A multidisciplinary and patient-tailored approach is crucial in these complex clinical scenarios.
Unexpected Dual Left Anterior Descending Artery as a Source of Percutaneous Coronary Revascularization Failure
Authors: Steven D Hajdu, Salah D Qanadli
Journal: Front Cardiovasc Med (2016)
Keywords: dual, coronary, failure, left anterior descending, recanalization
MeSH terms: Case Reports

Dual left anterior descending artery (LAD) is rare. A 61-year-old patient was referred because of angina and a positive stress test. Coronary angiography revealed a short LAD originating from the left main coronary artery. Computed tomography showed a long LAD originating above the right coronary artery sinus.
An Elegant Solution to a Ruptured Right Aberrant Subclavian Artery after Oesophageal Stent Removal
Authors: Daniel Thompson, Sophie Cerutti, Muhammad Peerbux, Anna Ikponmwosa, Hansraj Bookun, Yahya Lahham
Journal: Case Rep Vasc Med (2021)
MeSH terms: Case Reports

Arterioenteric or arteriotracheal fistula is a known complication of an aberrant right subclavian artery (ARSA) and is often associated with prolonged nasogastric or endotracheal intubation or oesophageal stenting. Fistula formation from the ARSA can present unexpectedly with rapid exsanguination with massive haemoptysis or haematemesis, and unless promptly recognised and treated is rapidly fatal. We present a novel endovascular method for treating a fistula between the oesophagus, trachea and an ARSA in an unstable patient following oesophageal stent removal, utilising a covered iliac limb stent, eliminating the need for an open surgical approach.
Two cases of appendiceal intussusception: a rare diagnostic pitfall in colonoscopy
Authors: Hassan Seddik, Monsef Rabhi
Journal: Diagn Ther Endosc (2011)
MeSH terms: Case Reports

Partially or completely invaginated appendix mistaken for a polyp during colonoscopy and leading to intussusception is a rare situation. This paper describes our experience with two cases of appendiceal intussusception. In the first case, there was no underlying ileocecal abnormality, and, in the second case, histologic examination of the resected appendix and cecum revealed widespread foci of angiodysplasia, and this was thought to be the basis for the intussusception. The authors present reviews of the literature concerning clinical features and associated conditions and emphasize that failure to recognize this condition may result in unexpected complications such as consequent peritonitis in case of endoscopic removal.
Morphological and molecular pathological features of the breast carcinoma with choriocarcinomatous features: A case report and a literature review
Authors: Jingchun Xu, Yi Xu, Cheng Xu, Cong Wang
Journal: Front Oncol (2023)
Keywords: breast, breast carcinoma with choriocarcinomatous features, carcinoma, choriocarcinoma, human chorionic gonadotropin, pathological features
MeSH terms: Case Reports

Here we present a rare case of breast cancer with both invasive ductal carcinoma and choriocarcinoma components in a 55-year-old woman. Firstly, the serum human chorionic gonadotropin level showed 15.9mIU/ml preoperatively. And adequate immunohistochemical tests were performed on the specimen. Secondly, High-throughput sequencing was performed to detect the molecular characteristics of the two components, respectively. Then, DNA short tandem repeat (STR) analysis confirmed the homology of the two components, indicating the somatic origin of choriocarcinoma components. Finally, the clinical course and pathological characteristics of the case were reviewed and a literature search for other cases was performed.
Durable Metastatic Melanoma Remission Following Pembrolizumab and Radiotherapy: A Case Report of Prophylactic Immunosuppression in a Patient with Myasthenia Gravis and Immune-Mediated Colitis
Authors: Luke A Moradi, Curtis A Clark, Craig S Schneider, Alok S Deshane, Michael C Dobelbower
Journal: Front Immunol (2021)
Keywords: abscopal effect, autoimmune myasthenia gravis, immunotherapy case report, metastatic melanoma, radiation therapy
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, Chemoradiotherapy / adverse effects, Colitis / drug therapy, Immune Checkpoint Inhibitors / therapeutic use, Immunosuppressive Agents / therapeutic use, Melanoma / therapy, Myasthenia Gravis / drug therapy, Prednisone / therapeutic use, Skin Neoplasms / therapy, Case Reports, Review, Aged, Antibodies, Monoclonal, Humanized / adverse effects, Colitis / chemically induced, Colitis / diagnosis, Colitis / immunology, Humans, Immune Checkpoint Inhibitors / adverse effects, Immunocompromised Host, Male, Melanoma / immunology, Melanoma / secondary, Myasthenia Gravis / diagnosis, Myasthenia Gravis / immunology, Skin Neoplasms / immunology, Skin Neoplasms / pathology, Treatment Outcome, Antibodies, Monoclonal, Humanized, Immune Checkpoint Inhibitors, Immunosuppressive Agents, vedolizumab, pembrolizumab, Prednisone

Immune checkpoint inhibitors (ICIs) and radiotherapy (RT) combinations for various metastatic cancers are increasingly utilized, yet the augmentation of anti-cancer immunity including distant tumor responses by RT remains ill-characterized. Immunosuppressive tumor microenvironments and defective anti-tumor immune activation including immune-related adverse events (irAEs) likely limit dramatic immuno-radiotherapy combinations, though it remains unclear which immune characteristics mediate dramatic systemic tumor regression in only a small subset of patients. Moreover, the efficacy of ICI treatment in patients receiving immunosuppressive therapies for autoimmune conditions or irAEs is convoluted, yet clinically valuable. Here, we report a case of a 75-year-old man with myasthenia gravis and metastatic melanoma who experienced complete and durable systemic regression after receiving pembrolizumab and single-lesion RT while on prednisone for myasthenia gravis prophylaxis and vedolizumab for immune-mediated colitis after previously experiencing mixed response on pembrolizumab monotherapy. We discuss the potential paradoxical effects and clinical considerations of immunosuppressive regimens in patients with underlying autoimmune disease or adverse immune reactions while receiving immuno-radiotherapy combinations.
Bilateral Lung Transplantation for Congenital Pulmonary Arteriovenous Fistula with Intraoperative Venovenous ECMO Support: The First Case Report in China
Authors: Jialong Liang, Yuan Chen, Jintao Zhou, Mingfeng Zheng, Feng Liu, Shugao Ye, Jingyu Chen, Yong Ji
Journal: Front Surg (2022)
Keywords: bilateral lung transplantation, case report, congenital pulmonary arteriovenous fistula, extracorporeal membrane oxygenation, hereditary hemorrhagic telangiectasia
MeSH terms: Case Reports

Pulmonary arteriovenous fistula (PAVF) is a rare pulmonary vascular lesion, more than 80% of which is caused by congenital abnormal development of pulmonary capillaries. The incidence of PAVF ranges from 2/100,000 to 3/100,000, with no difference in the male and female ratio. Congenital PAVF is often associated with hereditary hemorrhagic telangiectasia (HHT). In this article, we report a patient with only congenital PAVF that was successfully treated by bilateral lung transplantation (BLT) with intraoperative venovenous extracorporeal membrane oxygenation (ECMO) support because both lungs have been affected by PAVF and secondary pulmonary hypertension. To the best of our knowledge, this is the first report of BLT for PAVF in China and the second report that explains the clinical course of a patient to receive BLT for congenital PAVF without HHT. Some investigators have proposed lung transplantation as a definitive treatment, but the results are controversial. On the basis of the current condition of this patient, we believe lung transplantation is a viable option for certain patients, but the long-term effect remains to be studied.
An Extragastrointestinal Tumor Diagnosed as a Vaginal Mass during Pregnancy
Authors: Reo Ando, Shuichi Taniguchi, Shuji Arita, Murasaki Aman, Kousuke Marutsuka, Tomihiro Shimamoto
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

We report a case of an extragastrointestinal stromal tumor diagnosed as a vaginal mass during pregnancy. The mass was detected during routine examination at 24 weeks of gestation. At 26 weeks, the patient underwent transvaginal ultrasonography and magnetic resonance imaging, which revealed a blood flow-rich mass of approximately 50 × 30 mm in the rectovaginal septum. At 29 weeks of gestation, we resected the mass vaginally and the pathological diagnosis was a gastrointestinal stromal tumor. Chemotherapy was withheld until after full-term birth because the proliferation index of the tumor cells was low. The patient delivered a healthy infant. Imatinib was commenced at 1 month postpartum, with no recurrence or metastasis after 2.5 years. An extragastrointestinal stromal tumor as a vaginal mass in pregnancy has not been reported; however, our case suggests that the tumor should be considered a differential diagnosis of a vaginal mass in pregnancy.
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis
Authors: Iddo Vardi, Irit Chermesh, Lael Werner, Ortal Barel, Tal Freund, Collin McCourt, Yael Fisher, Marina Pinsker, Elisheva Javasky, Batia Weiss, Gideon Rechavi, David Hagin, Scott B Snapper, Raz Somech, Liza Konnikova, Dror S Shouval
Journal: Front Immunol (2020)
Keywords: ctla4, lrba, common variable immunodeficiency, enteropathy, inflammatory bowel disease, monogenic, whole exome sequencing
MeSH terms: Adaptor Proteins, Signal Transducing / genetics, Common Variable Immunodeficiency / genetics, DNA Mutational Analysis, Exome Sequencing, Inflammatory Bowel Diseases / genetics, Mutation, Case Reports, Research Support, Non-U.S. Gov't, Adult, Common Variable Immunodeficiency / diagnosis, Common Variable Immunodeficiency / immunology, Common Variable Immunodeficiency / therapy, Delayed Diagnosis, Genetic Predisposition to Disease, Humans, Inflammatory Bowel Diseases / diagnosis, Inflammatory Bowel Diseases / immunology, Inflammatory Bowel Diseases / therapy, Male, Phenotype, Predictive Value of Tests, Time Factors, Adaptor Proteins, Signal Transducing, LRBA protein, human

Background: More than 50 different monogenic disorders have been identified as directly causing inflammatory bowel diseases, typically manifesting in the first years of life. We present the clinical course and immunological work-up of an adult patient who presented in adolescent years with an atypical gastrointestinal phenotype and was diagnosed more than two decades later with a monogenic disorder with important therapeutic implications. Methods: Whole exome sequencing was performed in a 37-years-old patient with a history of diarrhea since adolescence. Sanger sequencing was used to validate the suspected variant. Mass cytometry (CyTOF) and flow cytometry were conducted on peripheral blood mononuclear cells for deep immunophenotyping. Next-generation sequencing of the TCRB and IgH was performed for global immune repertoire analysis of circulating lymphocytes. Results: We identified a novel deleterious c.1455C>A (p.Y485X) mutation in LRBA. CyTOF studies demonstrated significant changes in immune landscape in the LRBA-deficient patient, including an increase in myeloid derived suppressor cells and double-negative T cells, decreased B cells, low ratio of naïve:memory T cells, and reduced capacity of T cells to secrete various cytokines following stimulation, including tumor necrosis factor alpha (TNF-α) and interferon gamma (IFN-γ). In addition, this patient exhibited low frequency of regulatory T cells, with a reduction in their CTLA4 expression and interleukin (IL)-10 secretion. Finally, we show marked oligoclonal expansion of specific B- and T-cell clones in the peripheral blood of the LRBA-deficient patient. Conclusions: LRBA deficiency is characterized by marked immunological changes in innate and adaptive immune cells. This case highlights the importance of advanced genetic studies in patients with a unique phenotype, regardless of their age at presentation.
Neonatal outcome from triplet interval delayed delivery: a case report
Authors: Monika Lachowska, Dorota Paluszyńska, Tomasz Fuchs, Robert Woytoń, Mariusz Zimmer, Barbara Królak-Olejnik
Journal: Case Rep Obstet Gynecol (2013)

In the past decades, we have observed a large increase in the number of multifetal pregnancies, which is mainly associated with the introduction of assisted reproductive techniques. Even though neonatal intensive care of very premature infants has improved significantly, the risk of mortality and long-term morbidity is still much higher among these newborns. A longer interdelivery period may reduce perinatal mortality and morbidity. The authors report the case of a delayed interval delivery in trichorionic, triamniotic triplet pregnancy. After the labor of the first fetus in the 22nd week of gestation, a 75-day interval was achieved before the delayed delivery. To save the surviving fetuses, the umbilical cord was ligated at the cervical level immediately after the first delivery. The patient received antibiotics, tocolytics, and corticosteroids. A baby boy who weighed 1750 g and a girl who weighed 1700 g were successfully delivered by cesarean section in the 33rd week of pregnancy. The babies were discharged home at the age of 28 days. A follow-up examination 20 weeks later showed that their neurological development was normal and without any major problems. The maternal postpartum course was uneventful; the patient stayed in hospital taking care of the babies.
Endomyometriosis of the Rectum With Disseminated Peritoneal Leiomyomatosis 8 Years After Laparoscopic Myomectomy: A Case Report
Authors: Giorgio La Greca, Cristina Colarossi, Paolo Di Mattia, Cecilia Gozzo, Marco De Zuanni, Eliana Piombino, Lorenzo Memeo
Journal: Front Surg (2021)
Keywords: endometriosis, endomyometriosis, leyomiomatosis, myomectomy, uterus-like mass
MeSH terms: Case Reports

Endomyometriosis is a rare finding and it can be challenging to diagnose and to treat. It can arise in the uterus, in the ovary, in the broad ligament, in the peritoneal surface and in other pelvic structures. Usually patients with endomyometriosis are asymptomatic, but symptoms could occur due to large dimensions or site of the mass. We present a case of a 49-year-old woman with a symptomatic pelvic mass in the rectal wall, with no history of endometriosis, who underwent laparoscopic myomectomy 8 years earlier.
Penile fracture with associated urethral rupture
Authors: Nicholas A Boncher, Gino J Vricella, Jason T Jankowski, Lee E Ponsky, Edward E Cherullo
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Penile fracture of the erect penis is an uncommon but emergent urological trauma. Potential outcomes include erectile dysfunction, penile curvature, and urethral injury. Treatment is emergent surgical repair. We present the case of a 42-year-old man with a penile fracture complicated by a urethral rupture and subsequent repair. A discussion of the key aspects of this condition is presented.