OpenMed/multicare-articles huggingface dataset:
Pulmonary blastoma treatment response to anti-PD-1 therapy: a rare case report and literature review
Authors: Yalin Xie, Ning Su, Chaoxia Li, An Lei, Lei Li, Jianjun Zou, Wencang Cen, Jinxing Hu
Journal: Front Oncol (2023)
Keywords: pd-1/pd-l1 axis, checkpoint inhibition, immunotherapy, pulmonary blastoma, sintilimab
MeSH terms: Case Reports

Pulmonary blastoma (PB) is a rare and invasive malignancy of the lungs with a poor prognosis. Although the mainstay treatment of PB is surgery, and radiotherapy and chemotherapy have been reported, no standard therapy exists for patients inoperable in advanced stages. Moreover, little is known about driver mutation status and immunotherapy efficacy. This paper presents a male patient diagnosed with classic biphasic PB using CT-guided lung biopsy pathology and immunohistochemistry. The patient's symptoms included cough, chest pain, shortness of breath, hemoptysis, and hypodynamia. The primary focus of this paper is to discuss the impact of anti-PD-1 immunotherapy on PB. The patient experienced progression-free survival (PFS) of over 27 months following sintilimab second-line anti-PD-1 therapy. The patient has currently survived for nearly 40 months with a satisfactory quality of life.
De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
Authors: Novella Rapini, Roberta Lidano, Silvia Pietrosanti, Giuseppina Vitiello, Chiara Grimaldi, Diana Postorivo, Anna Maria Nardone, Francesca Del Bufalo, Francesco Brancati, Maria Luisa Manca Bitti
Journal: Ital J Pediatr (2014)
MeSH terms: Chromosome Deletion, Chromosome Disorders / genetics, Chromosomes, Human, Pair 13 / genetics, Genetic Predisposition to Disease, Hemangioendothelioma / genetics, Liver Neoplasms / genetics, Retinoblastoma Protein / genetics, Case Reports, Chromosome Disorders / diagnosis, DNA / analysis, Diagnosis, Differential, Female, Hemangioendothelioma / complications, Hepatectomy, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Liver Neoplasms / diagnosis, Liver Neoplasms / surgery, Phenotype, Retinoblastoma Protein, DNA, 13q deletion syndrome

Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation and mild dysmorphism including curly hair, high forehead, short nose, thin upper lip and long philtrum. An abnormal mass was surgically removed from her liver resulting in a hemangioendothelioma. Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver.
Remission of Persistent Negative Symptoms and Psychosocial Consequences by Combined Clozapine and Cariprazine Treatment in a Patient With Long-Standing Treatment-Resistant Schizoaffective Disorder
Authors: Mats Bogren, Monica Soltesz, Stephan Hjorth
Journal: Front Psychiatry (2022)
Keywords: antipsychotic polypharmacy, da d2/d3 partial agonism, cognitive symptoms of schizophrenia, negative symptoms (schizophrenia), psychosocial symptoms, quality-of-life, reward system

This patient case report describes a 45-year old white unmarried man with disability pension due to schizoaffective disorder, diagnosed at the age of 24. He lives in an apartment and has housing support. Retrospectively, the patient displayed prodromal markers of a disorder within the schizophrenia spectrum many years before the onset of frank psychosis, indeed since childhood. Over the years several symptoms and signs across schizophrenia domains have been manifest: positive, negative, cognitive, and affective, among which the negative and affective symptoms and signs were the earliest to appear. While the positive, disorganized, and catatonic symptoms responded to treatment - when duly tested and complied with - the negative and affective symptoms have been notoriously difficult to handle. We now report on the successful introduction of cariprazine (CAR) to his ongoing clozapine (CLZ) medication, the result of which has been a near-complete remission of his persistent negative and psychosocial issues. We interpret this remarkable alleviation of the patient's disease - and concomitant improvement of his quality of life - in terms of neuroreceptor target complementarity between CLZ and CAR, with particular emphasis on the contributions from the D3 and D2 receptor partial agonist components of the latter agent.
Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study
Authors: Sara Marceglia, Simona Mrakic-Sposta, Manuela Fumagalli, Roberta Ferrucci, Francesca Mameli, Maurizio Vergari, Sergio Barbieri, Alberto Priori
Journal: Front Neurosci (2017)
Keywords: cathodal transcranial direct current stimulation, focal hand dystonia, musician, neuromodulation, tdcs

Focal hand dystonia (FHD) in musicians is a movement disorder causing abnormal movements and irregularities in playing. Since weak electrical currents applied to the brain induce persistent excitability changes in humans, cathodal tDCS was proposed as a possible non-invasive approach for modulating cortical excitability in patients with FHD. However, the optimal targets and modalities have still to be determined. In this pilot study, we delivered cathodal (2 mA), anodal (2 mA) and sham tDCS over the motor areas bilaterally for 20 min daily for five consecutive days in two musicians with FHD. After cathodal tDCS, both patients reported a sensation of general wellness and improved symptoms of FHD. In conclusion, our pilot results suggest that cathodal tDCS delivered bilaterally over motor-premotor (M-PM) cortex for 5 consecutive days may be effective in improving symptoms in FHD.
Case Report: Ischaemic appendicitis post mesenteric biopsy
Authors: Marianna Zukiwskyj, June Tun, Shashank Desai
Journal: F1000Res (2016)
Keywords: carcinoma, ischaemic appendicitis, biopsy, mesenteric lymph node

A common indication for laparoscopic mesenteric lymph node biopsy is to provide a tissue diagnosis in the absence of palpable peripheral nodes via a minimally invasive approach. There are no reports to date of ischaemia to the appendix as a complication of this procedure. We report the case of a 34-year-old lady who underwent a mesenteric biopsy for a lesion found incidentally on CT to investigate longstanding abdominal pain, and 2 days later required an appendicectomy for ischaemic appendicitis.
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature
Authors: William S Baek, Umut Aypar
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD). Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI). Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4. Such neurological manifestations of XLI warrant attention as practical targets of clinical management.
Failed Early Intervention of Pyomyositis in an Immunocompetent Individual
Authors: Ranna Al-Dossari, Sana Zekri
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Pyomyositis is a purulent infection of striated muscle tissue that usually leads to an abscess, commonly due to S. aureus. Pyomyositis is typically found in tropic regions, but it is increasingly being recognized in temperate climates, especially in immunocompromised individuals. Patient presentation ranges from afebrile with mildly elevated WBC to frank sepsis. In many reported cases, patients may develop multiple abscesses at different sites. We report a case of a 54-year-old male with a history of chronic obstructive pulmonary disease (COPD) presenting with right pectoral infection. This case demonstrates the possibility that antibiotic therapy in early presentations may not effectively prevent abscess formation, contrary to treatment suggestions found in the literature.
A First Report of Synchronous Intracapsular and Extracapsular Hepatic Adenoma
Authors: Murat Derebey, Ilhan Karabicak, Savas Yuruker, Gokhan Lap, Bilge Can Meydan, Murat Danaci, Kagan Karabulut, Necati Ozen
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Although the gallbladder is the most common site of ectopic liver, it has been reported in many other organs, such as kidney, adrenal glands, pancreas, omentum, stomach, esophagus, mediastinum, lungs, and heart. Hepatocytes in an ectopic liver behave like normal hepatocytes; furthermore, they can be associated with the same pathological findings as those in the main liver. Ectopic liver in the gallbladder can undergo fatty change, hemosiderosis, cholestasis, cirrhosis, hemangioma, focal nodular hyperplasia, adenoma, and even carcinogenesis. The incidence of extracapsular hepatic adenoma is not known, but only two cases have been reported. Here, we provide the first case report of synchronous multiple intracapsular and extracapsular hepatic adenomas. A 60-year-old woman with multiple hepatic adenomas and one 7 × 5 × 5 cm ectopic hepatic adenoma attached to the gallbladder fundus complicated with abdominal pain is presented.
Coincidence of Tethered Cord, Filum Terminale Lipoma, and Sacral Dural Arteriovenous Fistula: Report of Two Cases and a Literature Review
Authors: Łukasz Przepiórka, Przemysław Kunert, Paulina Juszyńska, Michał Zawadzki, Bogdan Ciszek, Mariusz Głowacki, Andrzej Marchel
Journal: Front Neurol (2018)
Keywords: embolization, lipoma, spinal dural arteriovenous fistula, surgery, tethered cord syndrome
MeSH terms: Case Reports

Spinal dural arteriovenous fistula (SDAVF) is the most common vascular malformation of the spine in adults. However, the coincidence of tethered cord syndrome, lipoma, and SDAVF on the sacral level is exceptionally rare. We describe two patients, probably the fifth and sixth ever reported. The first was a 33 year-old female who underwent surgical cord de-tethering. Surprisingly, a sacral SDAVF was discovered intraoperatively, despite negative digital subtraction angiography (DSA). The second patient was a 30 year-old male with similar pathologies. After three failed embolizations, the fistula was surgically disconnected. Both patients recovered well. A review of patients with sacral SDAVF coexisting with spinal dysraphism, with an emphasis on the basis of symptoms was done. As a rule, in these coincident disorders, the SDAVF was the direct cause of increasing symptoms. Previous reports and our findings reveal that surgery might be superior to endovascular embolization for treating sacral SDAVFs with coexisting entities, because surgery offers a one-step treatment.
Complications in a Young Adult Attributable to a Retained Pediatric Dynamic Hip Screw
Authors: Jonathan Bryant, Leroy Butler, Brandon Green, Daniel Krenk
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Introduction:
Orthopedic implants are used for many different conditions in the pediatric population. The literature on hardware removal is controversial and vague.
Case report:
We highlight a young adult male who underwent a dynamic hip screw (DHS) due to a motor vehicle accident at 11 years old. He healed the fracture and did well for years. He was lost to follow-up and the hardware was never removed. The patient presented to our facility with a periprosthetic subtrochanteric proximal femur fracture just distal to the retained hardware. The DHS was removed and the fracture fixed with an intramedullary nail. The patient healed the fracture and did well.
Discussion:
A literature review was performed to highlight the benefits and complications of hardware removal vs. retention. We hope to equip the orthopedic surgeon with the reasons for or against hardware removal to optimize treatment to each patient. In this instance, we recommend hardware removal due to the serious consequences of retained hardware in the adolescent/young adult population.
Primary Signet Ring Cell Carcinoma of Rectum Diagnosed by Boring Biopsy in Combination with Endoscopic Mucosal Resection
Authors: Yoshito Hirata, Keishi Kanno, Nobusuke Kishikawa, Shinji Tomoda, Kazuki Kimura, Tomoki Kobayashi, Daisuke Miyamori, Yuichiro Otani, Masafumi Mizooka, Koji Arihiro, Shiro Oka, Shinji Tanaka, Susumu Tazuma
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

A 46-year-old man with severe back pain visited our hospital. Magnetic resonance imaging revealed extensive bone metastasis and rectal wall thickness. Colonoscopy revealed circumferential stenosis with edematous mucosa, suggesting colon cancer. However, histological findings of biopsy specimens revealed inflammatory cells but no malignant cells. The patient underwent endoscopic ultrasound, which demonstrated edematous wall thickness without destruction of the normal layer structure. After unsuccessful detection of neoplastic cells by boring biopsies, we performed endoscopic mucosal resection followed by boring biopsies that finally revealed signet ring cell carcinoma. Herein, we present a case and provide a review of the literature.
Neurosyphilis masquerading as oculomotor nerve palsy in a healthy middle-aged man: Case report and review of the literature
Authors: Fares Antaki, Kenan Bachour, Milanne Trottier, Laurent Létourneau-Guillon, Jacinthe Rouleau
Journal: IDCases (2021)
Keywords: cns infections, cranial nerve palsy, neurology, neuroradiology, neurosyphilis, oculomotor nerve palsy, ophthalmology, sexually transmitted infections
MeSH terms: Case Reports

Acquired isolated oculomotor nerve palsy (ONP) is a commonly encountered clinical entity in ophthalmology. While most cases are due to microvascular ischemia, the diagnosis of ONP requires careful evaluation for alternate life-threatening etiologies. We present a case of isolated complete pupil-involving ONP in a healthy 47-year-old man in whom aneurysmal compression was initially suspected. Investigations later revealed a diagnosis of neurosyphilis. Neurosyphilis is an extremely rare cause of isolated ONP and seldom reported in the literature. Timely recognition of this disease by ophthalmologists can help orient patients to the appropriate neurology and infectious disease services they need.
A case report of vaccine-induced immune thrombotic thrombocytopenia (VITT) with genetic analysis
Authors: Daniela P Mendes-de-Almeida, Fernanda S G Kehdy, Remy Martins-Gonçalves, Joanna Bokel, Eduarda Grinsztejn, Patrícia Mouta Nunes de Oliveira, Maria de Lourdes de Sousa Maia, Brenda Hoagland, Sandra Wagner Cardoso, Beatriz Grinsztejn, Marilda M Siqueira, Pedro Kurtz, Patricia T Bozza, Cristiana C Garcia
Journal: Front Cardiovasc Med (2023)
Keywords: chadox1 ncov-19 vaccine, vitt, anti-pf4 antibodies, genetic predisposition, polymorphisms, vaccine-induced thrombotic thrombocytopenia
MeSH terms: Case Reports

The emergence of the rare syndrome called vaccine-induced immune thrombocytopenia and thrombosis (VITT) after adenoviral vector vaccines, including ChAdOx1 nCov-19, raises concern about one's predisposing risk factors. Here we report the case of a 56-year-old white man who developed VITT leading to death within 9 days of symptom onset. He presented with superior sagittal sinus thrombosis, right frontal intraparenchymal hematoma, frontoparietal subarachnoid and massive ventricular hemorrhage, and right lower extremity arterial and venous thrombosis. His laboratory results showed elevated D-dimer, C-reactive protein, tissue factor, P-selectin (CD62p), and positive anti-platelet factor 4. The patient's plasma promoted higher CD62p expression in healthy donors' platelets than the controls. Genetic investigation on coagulation, thrombophilia, inflammation, and type I interferon-related genes was performed. From rare variants in European or African genomic databases, 68 single-nucleotide polymorphisms (SNPs) in one allele and 11 in two alleles from common SNPs were found in the patient genome. This report highlights the possible relationship between VITT and genetic variants. Additional investigations regarding the genetic predisposition of VITT are needed.
A Case of Early Disseminated Neurological Lyme Disease Followed by Atypical Cutaneous Manifestations
Authors: Vamsi Kantamaneni, Vikas Sunder, Mohammad Bilal, Scott Vargo
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Lyme disease (LD) is a tick-borne illness caused by Borrelia burgdorferi sensu stricto. An 80-year-old female from Pennsylvania, USA, presented to an outside hospital with fever, confusion, lower extremity weakness, and stool incontinence. CT head and MRI spine were unremarkable. An infectious work-up including lumbar puncture was negative. She was transferred to our tertiary care hospital. Patient was noted to have mild unilateral right-sided facial droop and a diffuse macular rash throughout the body. She denied any outdoor activities, tick bites, or previous rash. Intravenous ceftriaxone was started for suspected LD. The patient's symptoms including facial droop resolved within 24 hours of antibiotic therapy. Polymerase chain reaction of the blood, IgM ELISA, and IgM Western blot testing for LD came back positive a few days after initiation of therapy. She was treated for a total of 21 days for neurological LD with complete symptom resolution. Not all patients have the classic "targetoid" EM rash on initial presentation, rash could develop after neurological manifestations, and prompt initiation of antibiotics without awaiting serology is paramount to making a quick and a full recovery. There should be a high index of suspicion for early disseminated LD, as presentations can be atypical.
Intraoperative Local Administration of Platelet-Rich Plasma (PRP) during Neurolysis Surgery for the Treatment of Digital Nerve Crush Injury
Authors: Akira Ikumi, Yuki Hara, Eriko Okano, Sho Kohyama, Norihito Arai, Yu Taniguchi, Hisashi Sugaya, Tomokazu Yoshioka, Akihiro Kanamori, Masashi Yamazaki
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

The digital nerves are important for normal hand function. In addition to conventional therapies such as neurolysis, direct repair, and auto/allografts, new treatments administering growth factors and cells for promoting nerve regeneration exist. Platelet-rich plasma (PRP), an autologous product with proven therapeutic effects for musculoskeletal disorders, is a new treatment option for peripheral nerve injury. We hypothesized that PRP could stimulate healing of digital nerve injuries. In the current case report, intraoperative local administration of PRP was performed during neurolysis surgery for a healthy 28-year-old woman with digital nerve crush injury. Five weeks postinjury, surgery was performed due to severe uncontrollable neuropathic pain and no sensory nerve action potential derivation of the index finger. Therapeutic effects were assessed by physical examination, visual analog scale for pain, and nerve conduction study. Postoperatively, early neuropathic pain relief and good functional recovery were obtained with no PRP-related adverse events. This case report demonstrates the therapeutic potential of intraoperative PRP to enhance the healing process of nerve crush injury in the acute phase and to decrease the neuropathic pain, thus enhancing healing of peripheral nerve crush injury.
Understanding cerebellar liponeurocytomas: case report and literature review
Authors: M Y Oudrhiri, N Raouzi, I El Kacemi, N El Fatemi, R Gana, M R Maaqili, F Bellakhdar
Journal: Case Rep Neurol Med (2014)

Cerebellar liponeurocytomas were recognized in the 2000 WHO 3rd edition of CNS tumors as a distinct grade I pathological entity, a tumor with a more favorable prognosis than medulloblastoma. But reports of long-term recurrences and some possible aggressive behavior led to an upgrade on the latest WHO 4th edition of CNS tumors. The case of a 64-year-old female patient is reported in this paper. More than 30 cases of this lately recognized pathological entity have been reported to date. The diagnostic, radiological, and pathological features associated with this tumor are discussed through a literature review.
Multiple Giant Liver Cysts in a Nepalese Lad
Authors: Ashish Lal Shrestha, Shova Banstola Paudel, Saurav Krishna Malla
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Background:
While evaluating a child with multicystic liver pathology, both the congenital and acquired etiologies need to be considered. While typicality of findings on abdominal imaging makes the diagnosis of cystic echinococcosis relatively easy, choosing the appropriate line of management is equally crucial. Case Presentation. An 8-year-old previously healthy lad presented to the office with progressive upper abdominal fullness and pain for a year. Blood workup was normal. CT imaging made a diagnosis of multicystic giant hepatic hydatidosis. Treatment consisting of oral albendazole combined with surgical excision resulted in a fruitful outcome. To the best of our knowledge, this probably represents the first case of multiple giant hepatic hydatidosis at such a young age being reported from Nepal.
Conclusion:
Childhood liver cysts are uncommon. Considering the endemicity, echinococcal etiology needs consideration. Surgical ablation is required for large cysts, and the mode of management is dictated by the size and location.
ANCA-Associated Vasculitis With Anti-GBM Disease and Two Types of Tumors: A Case Report
Authors: Xiuxiu Li, Meichun Huang, Jun Liu
Journal: Front Med (Lausanne) (2022)
Keywords: anti-neutrophil cytoplasmic antibody (anca), colon cancer, dual antibodies, glomerular basement membrane (gbm), lung cancer
MeSH terms: Case Reports

Introduction:
Anti-neutrophil cytoplasm antibody (ANCA)-associated-vasculitis and anti-glomerular basement membrane (GBM) disease are types of autoimmune diseases that are characterized by the presence of circulating autoantibodies. Most patients with these diseases experience sudden onset, rapid progress, and poor prognosis. The purpose of the present article is to report a case of ANCA-associated vasculitis with anti-GBM disease and two types of tumors.
Case report:
A 63-year-old Chinese woman who underwent resection for rectal cancer 6 years before and for lung adenocarcinoma 4 years before, presented with fever and nasal obstruction, for the past 2 months and chondritis of an ear for the past 1 month. The patient failed to respond to an anti-infection treatment at local and higher-level hospitals with the first episode of "recurrent sinusitis and fever." Later, systemic symptoms such as fatigue, numbness of the limbs, and auricular chondritis gradually aggravated, followed by an increase in inconspicuous hematuria, proteinuria, and serum creatinine level. After admission, the GBM antibody, C-ANCA, and PR3 were positive. The renal puncture was diagnosed as anti-glomerular basement membrane antibody disease. After treatment, her serum creatinine decreased to 104 umol/l.
Discussion:
In the present report, we introduced the case of a rare double-positive disease in a patient with two types of tumors. Importantly, we noted that colon cancer and lung cancer, PR3, and anti-GBM disease may be related to their pathogenesis and manifestations. Further research is warranted to confirm these hypotheses.