OpenMed/multicare-articles huggingface dataset:
Case Report: Secondary bilateral parkinsonism and dystonia treated with dronabinol
Authors: Natalia Szejko, Florian Burger, Victoria Sidoroff, Gregor K Wenning
Journal: F1000Res (2020)
Keywords: dronabinol, dystonia, intoxication, ischemic stroke, secondary parkinsonism
MeSH terms: Dystonia / chemically induced, Dystonia / drug therapy, Dystonic Disorders, Parkinsonian Disorders / chemically induced, Parkinsonian Disorders / drug therapy, Case Reports, Adult, Basal Ganglia, Dronabinol, Humans, Dronabinol

Drug abuse may damage basal ganglia that are essential for planning and execution of movements. We report about the case of a 38-year old patient with ischemic lesions of the basal ganglia presenting with bilateral painful dystonia and parkinsonism caused by polyintoxication. Dronabinol resulted in improvement of pain and gait disturbance, suggesting a novel therapeutic strategy in these challenging patients.
Cervical spine tuberculosis
Authors: Maher Teka, Hazem Ben Ghozlen, Akram Yassine Zaier, Majdi Ben Hnia, Nader Naouar, Faouzi Abid
Journal: Pan Afr Med J (2020)
Keywords: arthrodesis, spinal arthrodesis, spinal tuberculosis, tuberculosis
MeSH terms: Antitubercular Agents / administration & dosage, Arthrodesis / methods, Tuberculosis, Spinal / diagnosis, Case Reports, Adult, Cervical Vertebrae / microbiology, Cervical Vertebrae / surgery, Drug Therapy, Combination, Humans, Magnetic Resonance Imaging, Male, Radiography, Tomography, X-Ray Computed, Tuberculosis, Spinal / therapy, Antitubercular Agents

Tuberculosis of the cervical spine differs from other vertebral localizations by its extreme rarity, the clinical images are very diversified, the radiological measurements allow a good diagnostic orientation and specifically the MRI which allows a multi-planar study of the various lesions. Only bacteriological evidence can confirm the diagnosis. The treatment is based on a 12-month antituberculosis multidrug therapy and much debate upon the surgical indication. In our case, the patient presented with bilateral cervicobrachialgia with pain on examination at the mobilization of the cervical spine. A standard X-ray, a cervical CT scan, and a cervical MRI were performed, showing a C4 vertebral body compression of a probably infectious origin. The biopsy confirmed the diagnosis of a Cervical Pott's Disease that had been treated with anterior arthrodesis and TB treatment with rehabilitation, the patients' neurological symptoms improved, and he was doing well.
A confounding coincidence: epidural anesthesia and paraplegia due to intramedullary tuberculoma in a patient who underwent cholecystectomy
Authors: Changyi Wu, Ying Zhang, Jianmin Xu
Journal: BMC Anesthesiol (2014)
Keywords: epidural anesthesia, intramedullary spinal tuberculoma, paraplegia
MeSH terms: Anesthesia, Epidural / adverse effects, Paraplegia / etiology, Tuberculoma / pathology, Tuberculosis, Spinal / pathology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Anesthesia, Epidural / methods, Antitubercular Agents / therapeutic use, Cholecystectomy / methods, Delayed Diagnosis, Humans, Magnetic Resonance Imaging, Male, Tuberculoma / complications, Tuberculoma / diagnosis, Tuberculosis, Spinal / complications, Tuberculosis, Spinal / etiology, Antitubercular Agents

Background:
Paraplegia associated with epidural anesthesia or caused by intramedullary spinal tuberculoma is rare but catastrophic. We present a case of paraplegia following epidural anesthesia in a patient with an undiagnosed intramedullary spinal tuberculoma.
Case presentation:
A 42-year-old man developed paraplegia after an open cholecystectomy under epidural anesthesia. Spinal cord infarction, acute transverse myelitis, and intramedullary neoplasms were ruled out by histopathologic examination, and intramedullary spinal tuberculoma at the T6-T7 level was identified. Despite surgical treatment and subsequent antituberculous therapy, the patient retained some disability attributable to the delay in diagnosis.
Conclusion:
Physicians should be aware of coexisting disease as a cause of paraplegia following procedures using epidural anesthesia. Magnetic resonance imaging is the most sensitive diagnostic test, although it is still difficult to differentiate spinal cord infarction, myelitis, intramedullary spinal tuberculoma, and neoplasms from imaging features alone.
Laparoscopic detorsion of the ovary in ovarian hyperstimulation syndrome during the sixth week of gestation: A case report and review
Authors: Seiji Kanayama, Hiroko Kaniwa, Masako Tomimoto, Bo Zhang, Kazuhiro Nishioka, Hidekazu Oi
Journal: Int J Surg Case Rep (2019)
Keywords: laparoscopic detorsion, ovarian hyperstimulation syndrome, ovarian torsion

Introduction:
Ovarian torsion in ovarian hyperstimulation syndrome (OHSS) is a relatively rare but serious complication in pregnant women. A delay in treatment increases the risk for functional loss of the ovary and early termination of pregnancy. In this report, we present the case of a 40-year-old female with OHSS who experienced ovarian torsion that was successfully treated with laparoscopic detorsion.
Presentation of case:
A 40-year-old pregnant woman in the 6th week of gestation who had conceived following in vitro fertilization presented to us with severe and persistent lower abdominal pain. Ultrasound examination revealed a viable singleton intrauterine pregnancy and bilateral enlarged ovaries with scanty ascites. Approximately 14 h after symptom onset, exploratory laparoscopy was performed. The right ovary was found to be twisted once around over the pedicle, and laparoscopic detorsion was completed. Postoperative follow-up was uneventful, and she successfully delivered a healthy infant at 38 weeks of gestation.
Discussion:
Although the reports on successful laparoscopic surgery for pregnant women with ovarian torsion are becoming more frequent, there are few reports on laparoscopic surgery for ovarian torsion in OHSS during the early first trimester. Optimal management of ovarian torsion during pregnancy needs to be explored for these patients.
Conclusion:
Immediate explorative laparoscopic surgery is a potentially safe and useful strategy for treating ovarian torsion during the early first trimester of pregnancy.
Acquired Long QT Syndrome and Torsade de Pointes Associated with HIV Infection
Authors: Alexander Shimabukuro-Vornhagen, Jan Rybniker, Shahram Zoghi, Gerd Faetkenheuer, Guido Michels, Erland Erdmann, Michael von Bergwelt-Baildon, Matthias Kochanek
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Here, we report the case of an HIV infected patient that was treated for pneumonia with a macrolid antibiotic. The patient experienced a prolongation of the already pathologic QTc interval resulting in repeated torsades de pointes necessitating CPR and implantation of an AICD. This case exemplifies that torsades de pointes due to acquired long QT syndrome is a serious and potentially fatal complication in HIV-positive patients.
Improvements in Behavioral Symptoms following Antibiotic Therapy in a 14-Year-Old Male with Autism
Authors: P Lucas Ramirez, Kelly Barnhill, Alan Gutierrez, Claire Schutte, Laura Hewitson
Journal: Case Rep Psychiatry (2013)

This case report describes the benefits of antibiotic and antifungal therapy on behavior in a child with autism undergoing treatment for encopresis. Over the course of treatment, the child exhibited a reduction in aberrant behaviors, increased gastrointestinal function, and improved quality of life.
Autoimmune hepatitis with anti centromere antibodies
Authors: Moushumi Lodh, Debkant Pradhan, Ashok Parida
Journal: Case Reports Immunol (2013)

We present the case report of a 49-year-old type 2 diabetes mellitus patient presenting with abdominal pain and black stool for 15 days. A proper workup of laboratory investigations helped us diagnose autoimmune hepatitis with anticentromere antibodies. The authors would like to highlight that screening AIH patients for anticentromere antibody is not mandatory but can be considered, especially in the presence of disease-related symptomatology for quicker, more accurate diagnosis and optimum management.
Dasatinib and FLAG-IDA Is an Effective Therapy for Initial Myeloid Blast Crisis but Involves a High Risk of Opportunistic Infections
Authors: Jorge Labrador, Gerardo J Hermida, Rodolfo Alvarez, Victor Anso, Pilar de Vicente, Mercedes Goñi, Tomas Jose Gonzalez-Lopez
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Blast crisis (BC) continues to be the major challenge in the treatment of chronic myeloid leukemia. Best results have been observed in a few patients who were successfully transplanted after returning to chronic phase. Recent studies focus on the combination of chemotherapy with imatinib, but results remain unsatisfactory. Since dasatinib induces deeper and faster responses, a reasonable strategy might be to combine it with chemotherapy, taking into account the alterations in T-cell response induced by dasatinib. However, there are no published studies or case reports supporting the use of dasatinib as first line treatment for initial myeloid BC, and very little is known about infectious complications associated with this drug. Based on this, we present the case of a patient diagnosed with an initial nonlymphoid phenotype BC, who achieved molecular response (MR4.5) with dasatinib and FLAG-IDA, but he suffered a pulmonary aspergillosis, CMV infection, and a CMV reactivation, prior to an allogeneic hematopoietic stem cell transplantation (HSCT). In conclusion, dasatinib and FLAG-IDA is an effective therapy for initial BC. However, a warning call is needed owing to the high risk of opportunistic infections, such as CMV.
Transperitoneal laparoscopic retrievement of a migrated prosthetic head after total hip arthroplasty: a case report
Authors: Simone Ciciriello, Martino Gerosa, Riccardo Ghezzi, Angelo Sogni, Ferdinando Incalza, Angelo Guttadauro, Dario Maggioni, Giulio Mari
Journal: Front Surg (2023)
Keywords: abdominal cavity, laparoscopy, posterolateral approach, prosthetic head migration, total hip arthroplasty
MeSH terms: Case Reports

The migration of a prosthetic head during total hip arthroplasty (THA) is a rare complication. Few cases are described in the literature, offering different solutions and surgical approaches for prosthetic head retrievement. Here, we present a case of successful laparoscopic transperitoneal retrieval of a prosthetic head migrated above the right iliac vein after THA with a posterolateral approach.
A Multifunctional Brain-Computer Interface Intended for Home Use: An Evaluation with Healthy Participants and Potential End Users with Dry and Gel-Based Electrodes
Authors: Ivo Käthner, Sebastian Halder, Christoph Hintermüller, Arnau Espinosa, Christoph Guger, Felip Miralles, Eloisa Vargiu, Stefan Dauwalder, Xavier Rafael-Palou, Marc Solà, Jean M Daly, Elaine Armstrong, Suzanne Martin, Andrea Kübler
Journal: Front Neurosci (2017)
Keywords: eeg, assistive technology, brain-computer interface, end-user evaluation, practical electrodes

Current brain-computer interface (BCIs) software is often tailored to the needs of scientists and technicians and therefore complex to allow for versatile use. To facilitate home use of BCIs a multifunctional P300 BCI with a graphical user interface intended for non-expert set-up and control was designed and implemented. The system includes applications for spelling, web access, entertainment, artistic expression and environmental control. In addition to new software, it also includes new hardware for the recording of electroencephalogram (EEG) signals. The EEG system consists of a small and wireless amplifier attached to a cap that can be equipped with gel-based or dry contact electrodes. The system was systematically evaluated with a healthy sample, and targeted end users of BCI technology, i.e., people with a varying degree of motor impairment tested the BCI in a series of individual case studies. Usability was assessed in terms of effectiveness, efficiency and satisfaction. Feedback of users was gathered with structured questionnaires. Two groups of healthy participants completed an experimental protocol with the gel-based and the dry contact electrodes (N = 10 each). The results demonstrated that all healthy participants gained control over the system and achieved satisfactory to high accuracies with both gel-based and dry electrodes (average error rates of 6 and 13%). Average satisfaction ratings were high, but certain aspects of the system such as the wearing comfort of the dry electrodes and design of the cap, and speed (in both groups) were criticized by some participants. Six potential end users tested the system during supervised sessions. The achieved accuracies varied greatly from no control to high control with accuracies comparable to that of healthy volunteers. Satisfaction ratings of the two end-users that gained control of the system were lower as compared to healthy participants. The advantages and disadvantages of the BCI and its applications are discussed and suggestions are presented for improvements to pave the way for user friendly BCIs intended to be used as assistive technology by persons with severe paralysis.
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
Authors: Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh
Journal: Front Immunol (2021)
Keywords: nemo, anhidrotic ectodermal dysplasia with immunodeficiency (eda-id), case report, hyper igm syndrome, preserved umbilical cord
MeSH terms: Ectodermal Dysplasia / diagnosis, Genetic Diseases, X-Linked / diagnosis, I-kappa B Kinase / genetics, Osteomyelitis / diagnosis, Pneumococcal Infections / diagnosis, Primary Immunodeficiency Diseases / diagnosis, Umbilical Cord / pathology, Case Reports, Research Support, Non-U.S. Gov't, DNA Mutational Analysis, Delayed Diagnosis, Ectodermal Dysplasia / complications, Ectodermal Dysplasia / genetics, Ectodermal Dysplasia / immunology, Genetic Diseases, X-Linked / complications, Genetic Diseases, X-Linked / genetics, Genetic Diseases, X-Linked / immunology, Humans, Infant, Male, Osteomyelitis / genetics, Osteomyelitis / immunology, Osteomyelitis / microbiology, Pedigree, Pneumococcal Infections / genetics, Pneumococcal Infections / immunology, Pneumococcal Infections / microbiology, Primary Immunodeficiency Diseases / complications, Primary Immunodeficiency Diseases / genetics, Primary Immunodeficiency Diseases / immunology, Streptococcus pneumoniae / immunology, Streptococcus pneumoniae / isolation & purification, IKBKG protein, human, I-kappa B Kinase, Ectodermal dysplasia, hypohidrotic, with immune deficiency

Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.
Elevated IgA and IL-10 levels in very-early-onset inflammatory bowel disease secondary to IL-10 receptor deficiency
Authors: Natascha Silva Sandy, Lia Furlaneto Marega, Giane Dantas Bechara, Adriana Gut Lopes Riccetto, Carmen Bonfim, Maria Marluce Dos Santos Vilela, Antonio Fernando Ribeiro, Maria De Fatima Servidoni, Elizete Aparecida Lomazi
Journal: Rev Paul Pediatr (2021)
MeSH terms: Inflammatory Bowel Diseases / genetics, Interleukin-10 / genetics, Case Reports, Female, Humans, Immunoglobulin A, Infant, Interleukin-10 Receptor alpha Subunit / genetics, Receptors, Interleukin-10 / genetics, IL10 protein, human, Immunoglobulin A, Interleukin-10 Receptor alpha Subunit, Receptors, Interleukin-10, Interleukin-10

Objective:
To report two patients with very-early-onset inflammatory bowel disease (VEOIBD) secondary to interleukin-10 receptor (IL-10R) mutations, explore immunophenotyping data and plasma cytokine profile on these cases compared to healthy controls, and describe the phenotype of IL-10/IL-10R mutations based on a literature review.
Case description:
We report on two female infants referred to our tertiary center at the age of ten months, with severe colonic and perianal disease, as well as significant malnutrition, who had shown limited response to usual inflammatory bowel disease (IBD) therapy agents. In the first case, whole-exome sequencing (WES) revealed a homozygous (c.537G>A/p.T179T) mutation in exon 4 of the IL-10RA gene, while in the second patient, compound heterozygosity was identified, also in the IL-10RA gene (chr11:117.859.199 variant A>G/p.Tyr57Cys and chr11: 117.860.335 variant G>T/p.Val123Leu). Both patients underwent hematopoietic cell transplantation (HCT). Immunological work-up of these patients revealed increased IL-10 plasma levels and increased IgA.
Comments:
Our case reports disclose novel findings on plasma cytokine profile in IL-10R deficiency, and we describe the severe phenotype of IL-10/IL-10R deficiency that should be recognized by physicians.
Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
Authors: Harvy Velasco, Diana Ramírez-Montaño
Journal: Front Genet (2018)
Keywords: nsd1, diagnostics test, genetic incidentalome, late-onset sporadic ataxias, whole-exome sequencing

Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis. Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (related to Sotos syndrome), which was not associated with ataxia and is not related to the patient's phenotype. Sanger sequencing of NSD1 in two different laboratories confirmed the variant. Conclusions: NGS findings generally offer valuable information that can be used for clinical decision-making. However, an incidental finding that leads to defining new clinical and bioethical actions is also possible. Consequently, the biological importance of this type of genetic "incidentalome" must be determined.
Nonpuerperal Uterine Inversion: What the Gynaecologists Need to Know?
Authors: R P Herath, M Patabendige, M Rashid, P S Wijesinghe
Journal: Obstet Gynecol Int (2020)
MeSH terms: Review

Introduction:
Nonpuerperal uterine inversion (NPUI) is a rare clinical problem with diagnostic and surgical challenges. The objective of our study was to review the literature on NPUI and describe causative pathologies, diagnosis, and different surgical options available for treatment.
Materials and methods:
A comprehensive literature review was carried out on MEDLINE and Google Scholar databases to look for NPUI using the term "non-puerperal uterine inversion," and further went through the cross-references of the published articles. Data are published case reports from 1911 to September 2018. Of the 153 published cases, 133 reports had adequate details of surgery for analysis. These reports were analyzed, concerning the clinical presentation, methods of diagnosis, and surgical treatment.
Results:
Mean age of the women was 46.3 years (standard deviation: 18, N = 153). Leiomyoma remained the commonest (56.2%) aetiology. While malignancies contributed to 32.02% of cases, 9.2% were idiopathic. High degree of clinical suspicion and identification of unique features on ultrasonography and magnetic resonance imaging enable prompt diagnosis. In cases of uncertainty, laparoscopy or biopsy of the mass was used to confirm the diagnosis. Hysterectomy or repositioning and repair of the uterus are the only treatment options available. The surgical methods implemented were analyzed in three aspects: route of surgical access, method of repositioning, and final surgical procedure undertaken. The majority (48.8%) had only abdominal access, while 27.1% had both abdominal and vaginal access. Haultain procedure was the most useful procedure for reposition (18.0%) of the uterus. The majority (39.7%) required abdominal hysterectomy with or without debulking of the tumour abdominally, while 15.0% had uterine repair after repositioning. We reviewed the different surgical techniques and described and proposed a treatment algorithm.
Conclusions:
Fibroids were the commonest cause for NPUI. Malignancies accounted for one-third of cases. A combined abdominal and vaginal approach, followed by hysterectomy or repair after repositioning, seems to be better for nonmalignant cases.
Multidisciplinary Management of Complicated Crown-Root Fracture of an Anterior Tooth Undergoing Apexification
Authors: Merve Mese, Merve Akcay, Bilal Yasa, Huseyin Akcay
Journal: Case Rep Dent (2015)

The purpose of this case report was to present the multidisciplinary management of a subgingival crown-root fracture of a patient undergoing apexification treatment. A 12-year-old male patient was referred to the pediatric dentistry clinic with an extensive tooth fracture of the right permanent maxillary lateral incisor. Clinical and radiographic examinations revealed the presence of a complicated crown-root fracture, which had elongated to the buccal subgingival area. The dental history disclosed that the apexification procedure had been started to be performed after his first trauma experience and he had neglected his appointment. The coronal fragment was gently extracted; endodontic treatment was performed; flap surgery was performed to make the fracture line visible. The coronal fragment was reattached to the root fragment with a dual-cure luting composite. A fiber post was stabilized and the access cavity of the tooth was restored with composite resin. At the end of the 24th month, the tooth was asymptomatic, functionally, esthetically acceptable and had no periapical pathology. It is important for the patients undergoing apexification treatment to keep their appointments because of the fracture risk. Restoration of the fractured tooth by preparing retention grooves and a bonding fiber-reinforced post are effective and necessary approaches for successful management.