OpenMed/multicare-articles huggingface dataset:
Case report: Rescue treatment with add-on selexipag in a preterm infant with suprasystemic pulmonary hypertension, pulmonary capillary hemangiomatosis, and isolated pulmonary vein stenosis
Authors: Hosan Hasan, Klea Hysko, Thomas Jack, Jens Dingemann, Martin Wetzke, Georg Hansmann
Journal: Front Cardiovasc Med (2022)
Keywords: bronchopulmonary dysplasia (bpd), intensive care, neonatology, prematurity, pulmonary hypertension (ph), selexipag
MeSH terms: Case Reports

An extremely dystrophic, premature female infant, born at 25 3/7 weeks of gestational age (birth weight: 430 g) with severe pulmonary hypertension (PH), was admitted to our neonatal intensive care unit (ICU) requiring cardiorespiratory support, including mechanical ventilation and pulmonary vasodilators such as inhaled nitric oxide (iNO) and continuous intravenous sildenafil infusions. The diagnosis of bronchopulmonary dysplasia (BPD) was made. A hemodynamically relevant, persistent ductus arteriosus (PDA) was surgically ligated after failed pharmacologic PDA closure using indomethacin and ibuprofen. The patient was discharged with an estimated 2/3 systemic pulmonary artery pressure. One month after hospital discharge, on low-flow oxygen supplementation (0.5 L/min FiO2 100%), at the corrected age of 16 weeks, she was readmitted to our emergency department with signs of respiratory distress and circulatory decompensation. Echocardiography demonstrated suprasystemic PH. Severe PH persisted despite initiated invasive mechanical ventilation, triple vasodilating therapy [iNO, macitentan, and continuous intravenous (IV) sildenafil], as well as levosimendan, milrinone, and norepinephrine for recompensation from cardiac shock. Thus, we started off-label oral selexipag therapy (oral IP receptor agonist) in the smallest patient reported so far (4 kg body weight). Subsequently, RV systolic pressure decreased to half-systemic, allowing successful weaning of iNO, norepinephrine, and milrinone, and extubation of the patient over 4 days. The infant was discharged 4 weeks after pediatric intensive care unit (PICU) admission in stable cardiorespiratory condition, with an oral, specific, triple antihypertensive PAH-targeted therapy using selexipag, macitentan, and sildenafil as well as oxygen therapy at low-flow (0.5 l/min) and spironolactone. The first cardiac catheterization at the age of 9 months under aforementioned triple PAH-targeted therapy revealed mild PH with 35% systemic PA pressure (mPAP/mSAP = 0.35) and isolated pulmonary vein stenosis. A transthoracic biopsy at the age of 12 months confirmed the diagnosis of BPD and further showed pulmonary interstitial glycogenosis and severe pulmonary capillary hemangiomatosis, without involvement of the pulmonary venules (chILD A2, A3, and B4 according to the Deutsch-Classification). The patient is currently in stable cardiorespiratory condition undergoing triple PH-targeted therapy including selexipag. This report highlights the potential benefits of the oral prostacyclin mimetic selexipag as an early add-on PH-targeted drug in chronic PH of infancy (cPHi).
Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function
Authors: Hongfeng Zhang, Lin Zhu, Fengpeng Wang, Ruimin Wang, Yujuan Hong, Yangqin Chen, Bin Zhu, Yue Gao, Hong Luo, Xian Zhang, Hao Sun, Ying Zhou, Yi Yao, Xin Wang
Journal: Front Genet (2019)
Keywords: k+ channel, kcnj10, kir41, sesame/east syndrome, compound heterozygous mutations
MeSH terms: Case Reports

Inwardly rectifying K+ channel 4.1 (Kir4.1), encoded by KCNJ10, is a member of the inwardly rectifying potassium channel family. In the brain, Kir4.1 is predominant in astrocytic glia and accounts for the spatial buffering of K+ released by neurons during action potential propagation. A number of studies have shown that mutations in KCNJ10 are associated with SeSAME/EAST syndrome, which is characterized by seizures, ataxia, sensorineural deafness, and electrolyte imbalance. Herein, we identified two siblings presenting with seizures and motor delays in one outbred kindred. Customized targeted-exome sequencing showed that both affected siblings are compound heterozygous for two KCNJ10 missense mutations (NM_002241.4: c.601G > A: p.A201T and c.626T > C: p.I209T). Prediction tools suggested that both amino acid substitutions were deleterious or disease causing. Further functional studies showed that Chinese hamster ovary (CHO) cells expressing either A201T and/or I209T Kir4.1 channels exhibited lower K+ currents, indicating compromised Kir4.1 biological function. Intriguingly, the A201T but not I209T mutation decreased total and cell surface Kir4.1 levels. Kir4.1 channels with the A201T mutation were unstable and degraded through lysosomal pathway. In conclusion, these data indicated that both A201T and I209T mutations disrupt Kir4.1 activity and are the cause of SeSAME/EAST-like syndrome in the siblings.
False-Positive Radioiodine Uptake in Simple Ovarian Cyst in a DTC Patient: A Case Report
Authors: Tao Wu, Xuefeng Zhao, Huiqin Xu
Journal: Front Oncol (2021)
Keywords: false-positive, radioiodine, simple ovarian cyst, single photon emission computed tomography/computed tomography, thyroid cancer
MeSH terms: Case Reports

Abnormal radioildine uptake can be caused by various pelvic lesions in differentiated thyroid cancer patient. Here we presented an abnormal uptake in the left side of the pelvic cavity on postablative I-131 scintigraphy in a 51-year-old woman with history of stage T1aN1M0 papillary thyroid cancer. The SPECT/CT fused imaging revealed the lesion in the left ovary. Laparoscopic bilateral adnexectomy showed a left ovarian mass (5 cm) and pathologic finding showed a simple ovarian cyst. The nonstimulated Tg immediately decreased to 143 ng/ml after bilateral adnexectomy 3 days later and to 0.109 ng/ml after 4-month follow-up. Timely intervention measures are very necessary for patients with ovarian cyst with abnormally elevated Tg level.
Successful Extracorporeal Membrane Oxygenation (ECMO) Use without Systemic Anticoagulation for Acute Respiratory Distress Syndrome in a Patient with Aneurysmal Subarachnoid Hemorrhage
Authors: Amanda L Faulkner, James David Bacon, Brian A Fischer, Stephen L Grupke, Kevin W Hatton
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Extracorporeal membrane oxygenation (ECMO) is an important life-saving technology for patients with severe acute respiratory distress syndrome (ARDS). Unfortunately, ECMO has been traditionally contraindicated in patients with hemorrhagic neurologic diseases. The recent improvement in ECMO devices, increased utilization and experience with venovenous ECMO technologies among healthcare teams, and the use of ECMO without anticoagulation has expanded the potential populations that may benefit from ECMO. We present a case of successful utilization of venovenous ECMO for severe respiratory failure secondary to ARDS in a patient with aneurysmal subarachnoid hemorrhage and severe, episodic cerebral vasospasm. We also discuss important limitations and considerations for future successful use of ECMO in hemorrhagic stroke. This case report highlights the potential for this life-saving technology in patients with hemorrhagic stroke.
Collagenous Gastritis in Primary Selective IgM Deficiency: Transition to EBV+ Gastric Adenocarcinoma
Authors: Tejal Narsai, Houfen Su, David Braxton, Sudhir Gupta
Journal: Case Reports Immunol (2021)
MeSH terms: Case Reports

Selective IgM deficiency (SIgMD) and isolated collagenous gastritis are two independent rare disorders. Our purpose is to report the 1st case of SIgMD and isolated collagenous gastritis and collagenous gastritis that has transitioned to EBV + gastric adenocarcinoma. Gastric biopsy tissue was analyzed by EBV-related encoded RNA in situ hybridization assay. Subsets of CD4, CD8, T follicular helper cells (TFH), and members of the "regulatory lymphocytes club" were measured with multiple panels of monoclonal antibodies and isotype controls by multicolor flow cytometry. The patient was diagnosed with SIgMD (extremely low serum IgM 9 mg/dl and normal IgG and IgA and exclusion of secondary causes of low IgM). Soon after SIgMD diagnosis, the patient developed collagenous gastritis and, 8 years later, developed gastric adenocarcinoma that was positive for EBV. An extensive immunological analysis revealed reduced naïve CD4 and CD8 effector memory T cells and increased naïve and central memory CD8 T cells. Among the circulating follicular helper T cells (cTFH), TFH1 and TFH2 were increased whereas TFH17 was decreased. CD4 Treg cells and TFR cells were increased, whereas Breg and CD8 Treg were comparable to control. In conclusion, SIgMD may be associated with isolated collagenous gastritis, and collagenous gastritis may transition to EBV + gastric adenocarcinoma. A role of regulatory lymphocytes in gastric cancer is discussed.
Peripheral Retinal Neovascularization in a Patient with Sarcoidosis and Cocaine-Associated Autoimmunity
Authors: Ramak Roohipourmoallai, Samaneh Davoudi, Seyed Majid Hosseinian Benvidi, Siva S R Iyer
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

A 63-year-old African-American female with history of sarcoidosis (lymph node biopsy proven) and cocaine abuse for 8 years was referred to us because of new floater. Her ocular history was unremarkable except for vague complaints of visual disturbance during a hospital admission in 2016. On presentation, her visual acuity was 20/400 in the right eye and 20/30 in the left eye. Dilated fundus exam and multimodal imaging showed thick epiretinal membrane (ERM) superior to optic nerve head causing a lamellar macular hole and intra retinal edema in the right eye, a full thickness macular hole, and peripheral neovascularization in the left eye. Peripheral vasculitis was appreciated in both eyes and peripheral neovascularization in the left eye on fluorescein angiography. The patient underwent laser therapy, and the new vessels regressed in the left eye without any changes in systemic medications. Multiple factors may contribute to retinal vasculitis and neovascularization including sarcoidosis, cocaine abuse, and other undiagnosed systemic vasculitis, which makes this case a mystery.
Rare Histological Variants of Liver Cancer and Their Management: A Single-Institution Experience
Authors: Brandon Swed, Omar Gandarilla, Kenrry Chiu, Karim H Halazun, Benjamin Samstein, Rhonda Yantiss, Gagandeep Brar
Journal: Case Reports Hepatol (2021)
MeSH terms: Case Reports

Primary liver malignancies, including hepatocellular carcinoma (HCC) and cholangiocarcinoma, are a major cause of cancer-related morbidity and mortality worldwide. There are several histologically and biologically distinct subtypes of liver cancer that have previously been reported. However, literature regarding the nonsurgical management of these patients upon disease recurrence remains limited. These variants include combined HCC-cholangiocarcinoma (cHCC-CC), Epstein-Barr virus- (EBV-) associated carcinoma, undifferentiated carcinoma, and clear cell or thyroid-like variants of HCC. Here, we aim to highlight the pathologic features, clinical course, and outcomes of five patients with these unusual hepatic tumors and explain the rationale behind the choice of their systemic therapies upon disease recurrence. All patients underwent surgical resection as the standard of care for localized disease, and upon relapse, they were treated with either chemotherapy, targeted therapy, immunotherapy, or active surveillance based on the clinical context and tumor histology. These rare variants are important to recognize as they have prognostic and therapeutic implications, and there are currently insufficient data in the literature to guide further therapy.
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
Authors: Kheloud M Alhamoudi, Balgees Alghamdi, Abeer Aljomaiah, Meshael Alswailem, Hindi Al-Hindi, Ali S Alzahrani
Journal: Front Genet (2022)
Keywords: dsd, nr5a1, nr5a1 mutation and gonadal dysgenesis, ambiguous genitalia, disorders of sex development, gonadal dysgenesis
MeSH terms: Case Reports

Mutations in the nuclear receptor subfamily 5 group A member 1 (NR5A1) are the underlying cause of 10-20% of 46,XY disorders of sex development (DSDs). We describe a young girl with 46,XY DSD due to a unique novel mutation of the NR5A1 gene. An 11-year-old subject, raised as a female, was noticed to have clitromegly. She looked otherwise normal. However, her evaluation revealed a 46,XY karyotype, moderate clitromegly but otherwise normal female external genitalia, undescended atrophied testes, rudimentary uterus, no ovaries, and lack of breast development. Serum testosterone and estradiol were low, and gonadotropins were elevated. Adrenocortical function was normal. DNA was isolated from the peripheral leucocytes and used for whole exome sequencing. The results were confirmed by Sanger sequencing. We identified a novel mutation in NR5A1 changing the second nucleotide of the translation initiation codon (ATG>ACG) and resulting in a change of the first amino acid, methionine to threonine (p.Met1The). This led to severe gonadal dysgenesis with deficiency of testosterone and anti-Müllerian hormone (AMH) secretion. Lack of the former led to the development of female external genitalia, and lack of the latter allowed the Müllerian duct to develop into the uterus and the upper vagina. The patient has a female gender identity. Bilateral orchidectomy was performed and showed severely atrophic testes. Estrogen/progesterone therapy was initiated with excellent breast development and normal cyclical menses. In summary, we describe a severely affected case of 46,XY DSD due to a novel NR5A1 mutation involving the initiation codon that fully explains the clinical phenotype in this subject.
Case report: A combination of mirror therapy and magnetic stimulation to the sacral plexus relieved phantom limb pain in a patient
Authors: Chunchu Deng, Qian Li
Journal: Front Neurosci (2023)
Keywords: case report, effective treatment, magnetic stimulation, mirror therapy, phantom limb pain
MeSH terms: Case Reports

Phantom limb pain (PLP) is a common sequela of amputation, experienced by 50-80% of amputees. Oral analgesics as the first-line therapy have limited effects. Since PLP usually affects activities of daily living and the psychological conditions of patients, effective treatments are imperatively needed. In this case study, a 49-year-old man was admitted to our hospital because of uncontrollable paroxysmal pain in his missing and residual leg. Due to severe injuries in a truck accident, the right lower limb of the patient was surgically amputated ~5 years ago. Around 1 month after amputation, he felt pain in his lost leg and PLP was diagnosed. Then, he started taking oral analgesics, but the pain still occurred. After admission on July 9, 2022, the patient received treatments of mirror therapy and magnetic stimulation to the sacral plexus. 1-month treatments reduced the frequency and intensity of pain in the phantom limb and the stump, without any adverse events. Analysis of high-resolution three-dimensional T1-weighted brain volume images at the end of 2-month treatments showed alterations in the thickness of cortex regions related to pain processing, compared to that before treatment. This case study gives us hints that one or both interventions of mirror therapy and sacral plexus magnetic stimulation effectively relieved PLP and stump limb pain. These non-invasive, low-cost and easily conducted treatments could be good options for PLP. But randomized controlled trials with a large number of cases are required to confirm their efficacy and safety.
Myelin oligodendrocyte glycoprotein antibody-associated optic neuritis and myelitis in COVID-19: a case report and a review of the literature
Authors: Mark A Colantonio, Divine C Nwafor, Shruti Jaiswal, Ashish K Shrestha, Mahmoud Elkhooly, Steven Rollins, Sijin Wen, Shitiz Sriwastava
Journal: Egypt J Neurol Psychiatr Neurosurg (2022)
Keywords: covid-19, csf, mog, mri in covid-19, myelitis, optic neuritis, sars-cov-2
MeSH terms: Case Reports

Background:
Our case explored the spectrum of autoimmune and infectious neurological complications of Coronavirus Disease 2019. In addition, we also reviewed and discussed clinical features, neuroimaging, CSF findings, and outcomes in patients with COVID-19-associated Myelin Oligodendrocyte Glycoprotein Antibody Disorder (MOGAD) CNS inflammatory disorder.
Case presentation:
Here we presented a case of post-Coronavirus Disease 2019 infection Myelin Oligodendrocyte Glycoprotein Antibody Disorder in a 41-year-old male who presented with gait instability, urinary retention, and confusion. Workup done in hospital showed transverse myelitis in cervical spine region and left optic neuritis. Laboratory findings showed Myelin Oligodendrocyte Glycoprotein-IgG antibodies were positive in serum (1:100), suggestive of post-COVID Myelin Oligodendrocyte Glycoprotein Antibody Disorder.
Conclusion:
To our knowledge, this is the first comprehensive case report and the literature review that includes the clinical features, neuroimaging, CSF findings, and outcomes in COVID-19-associated Myelin Oligodendrocyte Glycoprotein Antibody Disorder.
A Dramatic Response to Toripalimab With Chemotherapy and Antiangiogenic Agent Followed by Surgery in a Stage IIIB Lung Adenocarcinoma Patient With an Uncommon EGFR Mutation: A Case Report
Authors: Pengda Zhai, Xueliang Niu, Kai Zheng
Journal: Front Oncol (2022)
Keywords: high pd-l1 expression, induction therapy, lung cancer, toripalimab, uncommon epidermal growth factor receptor mutation
MeSH terms: Case Reports

Lung cancer patients with high programmed cell death-ligand 1 (PD-L1) expression in tumor cells and epidermal growth factor receptor (EGFR) mutations are rare, but there is no clinical standard for which treatment such patients should receive. Here, we report a 52-year-old male smoker who was diagnosed with stage IIIB lung adenocarcinoma. A rare EGFR G719A mutation was detected in the lymph node samples by next-generation sequencing (NGS), and a high PD-L1 expression was found by immunohistochemistry (IHC). After 10 cycles of induction therapy (toripalimab plus pemetrexed plus nedaplatin plus apatinib), surgery was successfully performed, followed by 2 cycles of consolidation therapy (toripalimab plus pemetrexed) and 4 cycles of maintenance therapy (toripalimab). A progression-free survival (PFS) of 7 months was achieved. In this case, we showed that the programmed cell death protein 1 (PD-1) inhibitor toripalimab plus chemotherapy and apatinib was effective and tolerable in a locally advanced EGFR-mutant non-small cell lung cancer (NSCLC) patient with a positive PD-L1 expression.
A web-based information system for a regional public mental healthcare service network in Brazil
Authors: Vinicius Tohoru Yoshiura, João Mazzoncini de Azevedo-Marques, Magdalena Rzewuska, André Luiz Teixeira Vinci, Ariane Morassi Sasso, Newton Shydeo Brandão Miyoshi, Antonia Regina Ferreira Furegato, Rui Pedro Charters Lopes Rijo, Cristina Marta Del-Ben, Domingos Alves
Journal: Int J Ment Health Syst (2017)
Keywords: health information systems, health management, health networks, mental health, public health informatics

Background:
Regional networking between services that provide mental health care in Brazil's decentralized public health system is challenging, partly due to the simultaneous existence of services managed by municipal and state authorities and a lack of efficient and transparent mechanisms for continuous and updated communication between them. Since 2011, the Ribeirao Preto Medical School and the XIII Regional Health Department of the Sao Paulo state, Brazil, have been developing and implementing a web-based information system to facilitate an integrated care throughout a public regional mental health care network.
Case presentation:
After a profound on-site analysis, the structure of the network was identified and a web-based information system for psychiatric admissions and discharges was developed and implemented using a socio-technical approach. An information technology team liaised with mental health professionals, health-service managers, municipal and state health secretariats and judicial authorities. Primary care, specialized community services, general emergency and psychiatric wards services, that comprise the regional mental healthcare network, were identified and the system flow was delineated. The web-based system overcame the fragmentation of the healthcare system and addressed service specific needs, enabling: detailed patient information sharing; active coordination of the processes of psychiatric admissions and discharges; real-time monitoring; the patients' status reports; the evaluation of the performance of each service and the whole network. During a 2-year period of operation, it registered 137 services, 480 health care professionals and 4271 patients, with a mean number of 2835 accesses per month. To date the system is successfully operating and further expanding.
Conclusion:
We have successfully developed and implemented an acceptable, useful and transparent web-based information system for a regional mental healthcare service network in a medium-income country with a decentralized public health system. Systematic collaboration between an information technology team and a wide range of stakeholders is essential for the system development and implementation.
Iatrogenic Superior Vena Cava Syndrome after Cardiopulmonary Bypass Diagnosed by Intraoperative Echocardiography
Authors: Matthew B Ellison, Alex Statler, Roy E Henrickson, Julia Graff, Daniel Sloyer, Mir Ali Abbas Khan, Heather K Hayanga, Pavithra R Ellison
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

A 73-year-old female patient presented for mitral valve replacement and coronary artery bypass grafting secondary to multivessel coronary disease and severe mitral valve regurgitation with moderate stenosis. After bypass, the patient developed refractory hypotension with decreased biventricular volume and elevated central venous pressure (CVP). Transesophageal echocardiography (TEE) was utilized to make the diagnosis of acute intraoperative superior vena cava (SVC) syndrome. The SVC cannulation site was revised, resulting in resolution of the hypotension and a decrease in the CVP. Intraoperative TEE was vital in recognizing, managing, and ultimately repairing the acute intraoperative SVC stenosis.