OpenMed/multicare-articles huggingface dataset:
Tic Reduction in Adult Onset Gilles De La Tourette Syndrome Using as Required Nabiximols Spray
Authors: Maximilian A Schwittay, Andreas Steinbrecher, Elmar Lobsien
Journal: Tremor Other Hyperkinet Mov (N Y) (2021)
Keywords: cannabinoids, neuropharmacology, tic, tourette, hyperkinetic movement disorder, neurodevelopmental disorder, on demand treatment
MeSH terms: Cannabidiol, Tics / drug therapy, Tourette Syndrome / complications, Tourette Syndrome / drug therapy, Case Reports, Adult, Dronabinol, Drug Combinations, Humans, Male, Drug Combinations, Cannabidiol, Dronabinol, nabiximols

Background:
Tourette syndrome (TS) manifests with motor and vocal tics that can reach disabling intensity. Established therapies may show insufficient relief or side effects. Cannabinoids have demonstrated therapeutic potential in small studies. This report presents buccal Nabiximols "as required" in the treatment of tics in TS.
Case report:
A 25-year-old man presented with stigmatizing motor and phonic tics after cessation of daily Cannabis use. After Tiaprid 300 mg per day had shown no sufficient effect a trial of Nabiximols reduced tics by >90%.
Discussion:
Nabiximols could be an adjunct treatment in TS for situations were tics are severly disabling.
An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs
Authors: Sheila M Schmutz
Journal: Canine Genet Epidemiol (2014)
Keywords: geriatric deafness, hearing loss, presbycusis, variable expressivity
MeSH terms: Case Reports

Background:
During routine diagnostic BAER testing of dogs of various breeds for private owners at the Western College of Veterinary Medicine in Saskatoon, it became evident that some individual dogs developed hearing loss as adults. Although inherited congenital deafness has been widely reported in dogs, this type of deafness had not.
Findings:
Special clinics were set up to screen working Border Collies at herding competitions. To determine the typical age that geriatric deafness might be expected, retired dogs were also recruited. Five of the 10 Border Collies 12 years of age or older had hearing loss (1 bilaterally deaf and 4 had reduced hearing). The adult onset deafness which exhibited in three families, did not usually occur until 5 years of age, too young to be geriatric deafness. This adult onset deafness fits an autosomal dominant pattern of inheritance. Several of these dogs had been BAER tested at younger ages with no sign of deafness. The deaf dogs were not associated with either gender. A survey was developed which was completed by the dog owners, that indicated that the hearing loss was gradual, not sudden. In addition, some family studies were conducted.
Conclusions:
Dogs at 5 years of age were often in the prime of their herding careers and then did not respond appropriately to distant commands. This type of deafness is important to dog owners but is also a potential medical model for some forms of hearing loss in humans. This report also suggests that geriatric hearing loss is common in dogs older than 12 years.
Rare Manifestation of a Rare Disease, Acute Liver Failure in Adult Onset Still's Disease: Dramatic Response to Methylprednisolone Pulse Therapy-A Case Report and Review
Authors: Nalini Valluru, Venkata S Tammana, Michael Windham, Eyasu Mekonen, Rehana Begum, Andrew Sanderson
Journal: Case Rep Med (2014)

Adult onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology. It is characterized by daily fevers, arthralgias or arthritis, typical skin rash, and leukocytosis. Hepatic involvement is frequently observed in the course of AOSD with mildly elevated transaminases and/or hepatomegaly. Fulminant hepatic failure, occasionally requiring urgent liver transplantation, is a rare manifestation of AOSD. Here, we present a case of 22-year-old woman with no significant medical history who initially came with fever, arthralgias, myalgias, generalized weakness, and sore throat. Laboratory data showed mildly elevated transaminases and markedly elevated ferritin levels. She was diagnosed with AOSD based on Yamaguchi diagnostic criteria and was started on prednisone. Three months later, while she was on tapering dose of steroid, she presented with fever, abdominal pain, jaundice, and markedly elevated transaminases. Extensive workup excluded all potential causes of liver failure. She was diagnosed with AOSD associated acute liver failure (ALF). Intravenous (IV) methylprednisolone pulse therapy was started, with dramatic improvement in liver function. Our case demonstrated that ALF can present as a complication of AOSD and IV mega dose pulse methylprednisolone therapy can be employed as a first-line treatment in AOSD associated ALF with favorable outcome.
Hypokalemia After Rituximab Administration in Steroid-Dependent Nephrotic Syndrome: A Case Report
Authors: Francesco Guzzi, Mattia Giovannini, Carmela Errichiello, Giulia Liccioli, Francesca Mori, Rosa Maria Roperto, Paola Romagnani
Journal: Front Pharmacol (2020)
Keywords: adverse drug reactions, biologic drugs, case report, kalemia, nephrology
MeSH terms: Case Reports

The monoclonal antibody rituximab is a commonly used steroid sparing agent for steroid-dependent idiopathic nephrotic syndrome of childhood. With this brief report, we describe the first case of symptomatic hypokalemia after intravenous rituximab administration in a young woman. The sudden onset of dizziness and palpitation prompted acute life-threatening hypokalemia recognition by blood gas analysis and electrocardiography. Her symptoms were rapidly controlled by intravenous potassium administration. Such adverse drug reactions, when mild and self-limiting, can easily be overlooked if not expected or investigated. Health professionals should take into account the possibility of acute hypokalemia after rituximab administration in order to promptly setup the appropriate treatment and limit potentially severe complications.
Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
Authors: Hui Chen, Xiaoyan Li, Huaping Wu, Xiaolan Sun, Yuanyuan Che, Jian Zha, Ruiyan Wang, Xiongying Yu, Yong Chen, Jianmin Zhong
Journal: Front Neurol (2022)
Keywords: scn8a, benign, convulsions, gastroenteritis, gene
MeSH terms: Case Reports

Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and severe dehydration are excluded. Previous studies have suggested that genetics may be involved in CWG. Herein, we reported a novel de novo variant of SCN8A in a child with CwG. This is the first report that SCN8A may be associated with CwG. Our report may provides evidence for the genetic etiology of CwG and expands the phenotypic and genetic spectrum of SCN8A-related disorders, which previously included severe developmental and epileptic encephalopathy (DEE) phenotype, benign epilepsy phenotype, spectrum of intermediate epilepsies, and patients with cognitive and/or behavioral disturbances without epilepsy. Phenotype of CwG has a good prognosis, and it does not require long-term antiepileptic therapy. Overtreatment should be avoided clinically. However, the conclusion needs to be further defined by long-term follow-up and similar clinical reports. In spite of this, our clinical observation provides possible evidence for future studies on the relationship between SCN8A and CwG.
Affective Behavior in Parent Couples Undergoing Couple Therapy: Contrasting Case Studies
Authors: Esther Liekmeier, Joëlle Darwiche, Lara Pinna, Anne-Sylvie Repond, Jean-Philippe Antonietti
Journal: Front Psychol (2021)
Keywords: affective behavior, coparental satisfaction, couple interactions, couple therapy, observational coding, romantic relationship

Being in a romantic relationship is characterized by a high degree of intimacy and affective involvement. Affective behavior indicates the emotional content in couple interactions and therefore promotes an understanding of the evolution of romantic relationships. When couples are also parents, their affective behavior reflects their romantic and coparental bonds. In this paper, we present an observation of parent couples' affective behavior during a coparenting conflict discussion task to document whether and how much it improved during couple therapy. Two contrasting cases of affective behavior change are included. Observational coding of affective behavior within pre- and post-intervention coparenting conflict discussion tasks was carried out to compute means and CIs for each partner in both cases. In addition, the partners' coparental and romantic satisfaction were evaluated through validated self-report questionnaires in pre- and post-intervention assessments; this helped document whether the partners' coparental and romantic satisfaction were dissimilar between the two cases. Finally, a clinical analysis of both cases was realized with the contribution of the therapists to investigate possible differences within therapy sessions. Statistical analyses revealed negative means of affective behavior for couple A in the pre-intervention assessment and positive means in the post-intervention assessment. Partners from couple B had negative means of affective behavior in the pre- and post-intervention assessments. Results concerning coparental and romantic satisfaction differed: Couple A's coparental satisfaction slightly increased and the romantic satisfaction somewhat decreased, whereas couple B's coparental satisfaction remained stable and the romantic satisfaction slightly increased between the pre- and post-intervention assessments. The clinical analysis revealed that the interactional quality of couple A slightly improved within therapy sessions and that both partners succeeded in working together as coparents, notwithstanding their romantic distress. Couple B conveyed coparental distress and exhibited poor interactional quality throughout therapy sessions (e.g., repeated criticism and contempt). This study contributes to enriching the more traditional empirical research methods in the field of couple psychotherapy, as it takes into account microlevel affective changes within parent couples' interactions in addition to self-reported data. Furthermore, the analysis of therapy sessions supports the importance of working with affective behavior in couple therapy.
Endotracheal Surfactant Combined With Budesonide for Neonatal ARDS
Authors: Burak Deliloglu, Funda Tuzun, Merve Meryem Cengiz, Hasan Ozkan, Nuray Duman
Journal: Front Pediatr (2020)
Keywords: elgan extremely low gestational age newborn, montreux criteria, neonatal ards, surfactant, surfactant plus budesonid
MeSH terms: Case Reports

Acute respiratory distress syndrome (ARDS) is a clinical condition characterized by acute diffuse inflammatory lung injury and severe hypoxemia. In 2017, the Montreux Consensus defined diagnostic criteria for ARDS in the neonatal period. The management of ARDS includes strict adherence to lung-protective ventilation strategies and therapeutic agents to improve gas exchange. We report two similar cases of premature infants with gestational ages of 23 and 24 weeks diagnosed with neonatal ARDS according to the Montreux definition. These patients developed acute worsening of oxygenation on the 30th and 28th day of life, respectively, while they were ventilated on volume-guarantee assist/control mode. Chest X-rays revealed bilateral diffuse opacity, there were no cardiogenic origins for pulmonary edema, and their oxygenation indexes were >8. Both cases fulfilled the neonatal ARDS criteria and the patients' clinical conditions were associated with late onset neonatal sepsis. After lung recruitment maneuver, the infants began HFO volume-guarantee ventilation and received surfactant treatment. Since they showed a poor short-term response, intratracheal surfactant of 100 mg/kg plus budesonide of 0.25 mg/kg were administered and their oxygenation indexes were reduced stepwise. Both patients survived and were discharged home with spontaneous breathing of room air. Neonatal ARDS is generally an underdiagnosed condition associated with sepsis, pneumonia, and meconium aspiration. Impaired surfactant activity and reduced lung compliance play important roles in its pathophysiology. To our knowledge, this is the first case report indicating the possible therapeutic role of budesonide plus surfactant in ARDS treatment. Since ARDS is an entity not recognized in newborns, we want to emphasize neonatal ARDS diagnosis and underline that the combination of budesonide and surfactant may be a novel therapeutic option in the treatment of ARDS.
Role of responsive neurostimulation and immunotherapy in refractory epilepsy due to autoimmune encephalitis: A case report
Authors: Stephanie H Chen, Pamela K O'Dea, Bahareh Sianati, David R Benavides
Journal: Front Neurol (2022)
Keywords: rns, autoimmune encephalitis, autoimmune-associated epilepsy, immunotherapy, refractory epilepsy
MeSH terms: Case Reports

Autoimmune encephalitis (AE) frequently presents with seizures in the acute setting. Seizures are often refractory to anti-seizure medications (ASM) but have been shown to be responsive to immunomodulatory therapies. A subset of patients with AE continues to have refractory epilepsy, recently named "autoimmune-associated epilepsy (AAE)," for years after the acute AE presentation. Optimal treatment for AAE has not been determined. Furthermore, the efficacy of neuromodulation and immunotherapy has not been well established in AAE. Here, we report a patient with probable autoantibody negative AE who initially presented with new onset refractory status epilepticus (NORSE). After his acute presentation, he continued to have frequent seizures that were refractory to four ASMs at therapeutic doses. A responsive neurostimulation (RNS®, NeuroPace) system was implanted for diagnostic and therapeutic purposes, with minimal change in seizure frequency. Due to continued frequent seizures despite ASMs and neurostimulation, he underwent a trial of immunotherapy consisting of high-dose intravenous (IV) corticosteroids and intravenous immunoglobulin (IVIG). Despite the addition of immunotherapy to his treatment regimen, the patient experienced no significant clinical or electrographic change in seizure frequency. This case does not support the use of immunotherapy for treatment of AAE and illustrates the need for consensus guidelines in the management of patients with AAE. Further, the use of electrocorticography (ECoG) data provided an objective surrogate measure of seizure frequency; this may support the role for early neuromodulation in the management of AAE.
Hypertensive Retinopathy Secondary to Anlotinib Treatment
Authors: Xiaohua Zhang, Li Peng, Qing Xie, Qingjing Wu, Xia Sheng
Journal: Front Pharmacol (2020)
Keywords: anlotinib, drug, high blood pressure, hypertensive retinopathy, treatment
MeSH terms: Case Reports

Purpose:
We report a case of a middle-aged woman who developed hypertensive retinopathy following oral administration of Anlotinib.
Observations:
A 48-year-old woman presented to our hospital with sudden painless loss of vision in both eyes combined with headache, nausea, and vomiting following oral administration of Anlotinib. This drug is often used to control cancer progression. Due to the deterioration of her blood pressure, which reached 167/113 mm Hg, Anlotinib was discontinued and the blood pressure was controlled by hypertension medications. This normalized her blood pressure, alleviated headache, and restored her vision. She visited our eye department 37 days later for eye check-up. The best-corrected visual acuities was 0.3 in the right eye and 0.4 in the left eye. The fundus examinations revealed a clear boundary of the optic papilla with significant stellate exudation in the macular area. The posterior pole of the retina displayed high hemorrhage, with a cotton-wool spot appearance. Optical coherence tomography (OCT) revealed atrophy in the outer segment of macular area, and hard exudations in retinal layers. Based on these findings, hypertensive retinopathy was diagnosed, as a secondary complication of Anlotinib.
Conclusions and significance:
Anlotinib can induce hypertensive retinopathy. Patients receiving this drug should be closely monitored for potential complications.
Acute Hemoptysis Redefined: A Deadly Presentation
Authors: Claudio Galvis, Juan M Galvis, Juan Guardiola, Adrian P Umpierrez De Reguero
Journal: Case Rep Pulmonol (2018)
MeSH terms: Case Reports

An aortic aneurysm is a permanent localized arterial dilation with more than 50% of the artery diameter. Among the complications of an aortic aneurysm, one of the rarest is the aorto-bronchial fistula, which presents with massive hemoptysis; this condition is lethal if not treated surgically. We report a 90-year-old man with no significant medical history who presented to the emergency department with abrupt onset of hemoptysis; his chest X-ray displayed left upper lobe opacity with widened mediastinum. CT chest revealed aneurysmatic dilatation of the aorta, left upper lobe opacity suspicious of pulmonary aortic fistula. Thoracic surgery was consulted but due to his poor functional status surgery was deferred. On the second day of hospitalization, the patient developed another episode of massive hemoptysis resulting in hypovolemic shock and expired. This case epitomizes the relevance of broad differential diagnosis for hemoptysis and the prompt assessment and management of the patients with this condition.
Systemic mastocytosis associated with splenic marginal zone lymphoma with villous lymphocytes
Authors: R Fernández-Torres, M M Verea, A Alvarez, P Torres, E Fonseca
Journal: Dermatol Res Pract (2011)
MeSH terms: Case Reports

The development of a second haematological disease during the course of systemic mastocytosis is a well-known phenomenon. In most of the cases, they consist of myelodysplasia or myeloproliferative disorders. The association with lymphoproliferative disorders has also been described, but it is uncommon and the relationship is not well established. We report a patient diagnosed with systemic mastocytosis who three years later developed a splenic marginal zone lymphoma with villous lymphocytes.
Extraosseous Intradural Chondrosarcoma of the Cervical Spine: A Case Report with Brief Review of Literature
Authors: Elizabeth Presutto, Sejal Patel, Joseph Fullmer, Sajeev Ezhapilli
Journal: Case Rep Radiol (2018)
MeSH terms: Case Reports

Mesenchymal chondrosarcoma (MCS) is a malignant cancer of the cartilage that accounts for less than 1% of all chondrosarcomas and typically occurs within the bone. One-third of all mesenchymal chondrosarcomas are extraosseous soft tissue sarcomas, rendering this as an uncommon entity. We report a rare case of an extraosseous chondrosarcoma with the cervical spinal canal in a 21-year-old male. The purpose of this case report is to discuss the imaging characteristics of this pathology proven diagnosis.
Immunomodulatory and Anti-fibrotic Effects Following the Infusion of Umbilical Cord Mesenchymal Stromal Cells in a Critically Ill Patient With COVID-19 Presenting Lung Fibrosis: A Case Report
Authors: Kátia Nunes da Silva, Priscila Carvalho Guedes Pinheiro, André Luiz Nunes Gobatto, Rogério da Hora Passos, Bruno Diaz Paredes, Luciana Souza de Aragão França, Carolina Kymie Vasques Nonaka, Beatriz Barreto-Duarte, Mariana Araújo-Pereira, Rafael Tibúrcio, Fernanda Ferreira Cruz, Gabriele Louise Soares Martins, Bruno B Andrade, Hugo Caire de Castro-Faria-Neto, Patricia Rieken Macêdo Rocco, Bruno Solano de Freitas Souza
Journal: Front Med (Lausanne) (2021)
Keywords: ards, covid-19, cell therapy, fibrosis, immunomodulation, mesenchymal stromal cells (mscs)
MeSH terms: Case Reports

Background: The patients with coronavirus disease 2019 (COVID-19) associated with severe acute respiratory distress syndrome (ARDS) may require prolonged mechanical ventilation which often results in lung fibrosis, thus worsening the prognosis and increasing fatality rates. A mesenchymal stromal cell (MSC) therapy may decrease lung inflammation and accelerate recovery in COVID-19. In this context, some studies have reported the effects of MSC therapy for patients not requiring invasive ventilation or during the first hours of tracheal intubation. However, this is the first case report presenting the reduction of not only lung inflammation but also lung fibrosis in a critically ill long-term mechanically ventilated patient with COVID-19. Case Presentation: This is a case report of a 30-year-old male patient with COVID-19 under invasive mechanical ventilation for 14 days in the intensive care unit (ICU), who presented progressive clinical deterioration associated with lung fibrosis. The symptoms onset was 35 days before MSC therapy. The patient was treated with allogenic human umbilical-cord derived MSCs [5 × 107 (2 doses 2 days interval)]. No serious adverse events were observed during and after MSC administration. After MSC therapy, PaO2/FiO2 ratio increased, the need for vasoactive drugs reduced, chest CT scan imaging, which initially showed signs of bilateral and peripheral ground-glass, as well as consolidation and fibrosis, improved, and the systemic mediators associated with inflammation decreased. Modulation of the different cell populations in peripheral blood was also observed, such as a reduction in inflammatory monocytes and an increase in the frequency of patrolling monocytes, CD4+ lymphocytes, and type 2 classical dendritic cells (cDC2). The patient was discharged 13 days after the cell therapy. Conclusions: Mesenchymal stromal cell therapy may be a promising option in critically ill patients with COVID-19 presenting both severe lung inflammation and fibrosis. Further clinical trials could better assess the efficacy of MSC therapy in critically ill patients with COVID-19 with lung fibrosis associated with long-term mechanical ventilation.