OpenMed/multicare-articles huggingface dataset:
Atypical mycobacterial infection presenting as persistent skin lesion in a patient with ulcerative colitis
Authors: Giorgos Bamias, George L Daikos, Spyros I Siakavellas, Garyfallia Kaltsa, Stavroula Smilakou, Ioannis Katsogridakis, Irene Vafiadis-Zouboulis, Spiros D Ladas
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Immunosuppressive drugs are commonly used for the treatment of inflammatory bowel disease. Patients receiving immunosuppressants are susceptible to a variety of infections with opportunistic pathogens. We present a case of skin infection with Mycobacterium chelonae in a 60-year-old Caucasian woman with ulcerative colitis who had been treated with corticosteroids and azathioprine. The disease manifested with fever and rash involving the right leg. Infliximab was administered due to a presumptive diagnosis of pyoderma gangrenosum, leading to worsening of the clinical syndrome and admission to our hospital. Routine cultures from various sites were all negative. However, Ziehl-Neelsen staining of pus from the lesions revealed acid-fast bacilli, and culture yielded a rapidly growing mycobacterium further identified as M. chelonae. The patient responded to a clarithromycin-based regimen. Clinicians should be aware of skin lesions caused by atypical mycobacteria in immunocompromised patients with inflammatory bowel disease. Furthermore, they should be able to thoroughly investigate and promptly treat these conditions.
Case report: A case of sepsis caused by rickettsial infection-induced hemophagocytic syndrome
Authors: Yanli Cao, Peijun Liu, Qiuling Song, Jing Wang
Journal: Front Med (Lausanne) (2023)
Keywords: rickettsia, hemophagocytic syndrome, immune imbalance, multiple organ dysfunction, sepsis
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a rare histiocytic disorder characterized by reactive hyperplasia of the mononuclear phagocytic system, which is primarily caused by dysfunction of cytotoxic killer cells and natural killer cells, leading to antigen clearance barriers and the overactivation of the mononuclear phagocytic system due to continuous antigen stimulation. HLH encompasses a group of clinical syndromes marked by the overproduction of inflammatory cytokines. A 68-year-old Chinese man presented with persistent fever, chills, nausea, and vomiting; the patient had no history of any underlying conditions. Laboratory investigations revealed decreased levels of red blood cells, white blood cells, and platelets, along with reduced natural killer cell activity, increased CD25, hyperferritinemia, and the detection of Rickettsia DNA in his blood, meeting the diagnostic criteria of the Histiocyte Society HLH-2004 guidelines. The patient was treated with antibiotics, improving anemia, glucocorticoid therapy, and continuous renal replacement therapy (CRRT), temporarily improving his condition. However, the patient died after 2 years from chronic renal failure caused by septic shock.
Clinical, environmental, and serologic surveillance studies of melioidosis in Gabon, 2012-2013
Authors: W Joost Wiersinga, Emma Birnie, Tassili A F Weehuizen, Abraham S Alabi, Michaëla A M Huson, Robert A G Huis in 't Veld, Harry K Mabala, Gregoire K Adzoda, Yannick Raczynski-Henk, Meral Esen, Bertrand Lell, Peter G Kremsner, Caroline E Visser, Vanaporn Wuthiekanun, Sharon J Peacock, Arie van der Ende, Direk Limmathurotsakul, Martin P Grobusch
Journal: Emerg Infect Dis (2015)
MeSH terms: Burkholderia pseudomallei / isolation & purification, Melioidosis / epidemiology, Soil Microbiology, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Antibodies, Bacterial / blood, Burkholderia pseudomallei / genetics, Burkholderia pseudomallei / immunology, Child, Community-Acquired Infections / blood, Community-Acquired Infections / diagnosis, Community-Acquired Infections / epidemiology, Environmental Monitoring, Epidemiological Monitoring, Fatal Outcome, Female, Gabon / epidemiology, Humans, Male, Mass Screening, Melioidosis / diagnosis, Melioidosis / microbiology, Middle Aged, Phylogeny, Prevalence, Prospective Studies, Young Adult, Antibodies, Bacterial

Burkholderia pseudomallei, an environmental gram-negative bacillus, is the causative agent of melioidosis and a bio-threat agent. Reports of B. pseudomallei isolation from soil and animals in East and West Africa suggest that melioidosis might be more widely distributed than previously thought. Because it has been found in equatorial areas with tropical climates, we hypothesized that B. pseudomallei could exist in Gabon. During 2012-2013, we conducted a seroprevalance study in which we set up microbiology facilities at a large clinical referral center and prospectively screened all febrile patients by conducting blood cultures and testing for B. pseudomallei and related species; we also determined whether B. pseudomallei could be isolated from soil. We discovered a novel B. pseudomallei sequence type that caused lethal septic shock and identified B. pseudomallei and B. thailandensis in the environment. Our data suggest that melioidosis is emerging in Central Africa but is unrecognized because of the lack of diagnostic microbiology facilities.
Circulating (CD3(-)CD19(+)CD20(-)IgD(-)CD27(high)CD38(high)) Plasmablasts: A Promising Cellular Biomarker for Immune Activity for Anti-PLA2R1 Related Membranous Nephropathy?
Authors: Agnieszka Pozdzik, Ingrid Beukinga, Chunyan Gu-Trantien, Karen Willard-Gallo, Joëlle Nortier, Olivier Pradier
Journal: Mediators Inflamm (2016)
MeSH terms: ADP-ribosyl Cyclase 1 / immunology, Biomarkers / metabolism, Glomerulonephritis, Membranous / immunology, Glomerulonephritis, Membranous / metabolism, Kidney / metabolism, Kidney / physiology, Plasma Cells / immunology, Plasma Cells / metabolism, Receptors, Phospholipase A2 / immunology, ADP-ribosyl Cyclase 1 / metabolism, Antigens, CD19 / metabolism, Antigens, CD20 / metabolism, CD3 Complex / metabolism, Humans, Immunoglobulin D / metabolism, Kidney / immunology, Male, Middle Aged, Tumor Necrosis Factor Receptor Superfamily, Member 7 / metabolism, Antigens, CD19, Antigens, CD20, Biomarkers, CD3 Complex, Immunoglobulin D, PLA2R1 protein, human, Receptors, Phospholipase A2, Tumor Necrosis Factor Receptor Superfamily, Member 7, ADP-ribosyl Cyclase 1

Membranous nephropathy (MN) is a kidney specific autoimmune disease mainly mediated by anti-phospholipase A2 receptor 1 autoantibody (PLA2R1 Ab). The adequate assessment of chimeric anti-CD20 monoclonal antibody, rituximab (RTX), efficacy is still needed to improve clinical outcome of patient with MN. We evaluated the modification of plasmablasts (CD3(-)CD19(+)CD20(-)IgD(-)CD27(high)CD38(high)), a useful biomarker of RTX response in other autoimmune diseases, and memory (CD3(-)CD19(+)CD20(+)IgD(-)CD27(+)CD38(-)) and naive (CD3(-)CD19(+)CD20(+)IgD(+)CD27(-)CD38(low)) B cells by fluorescence-activated cell sorter analysis in PLA2R1 related MN in one patient during the 4 years of follow-up after RTX. RTX induced complete disappearance of CD19(+) B cells, plasmablasts, and memory B cells as soon as day 15. Despite severe CD19(+) lymphopenia, plasmablasts and memory B cells reemerged early before naive B cells (days 45, 90, and 120, resp.). During the follow-up, plasmablasts decreased more rapidly than memory B cells but still remained elevated as compared to day 0 of RTX. Concomitantly, anti-PLA2R1 Ab increased progressively. Our single case report suggests that, besides monitoring of serum anti-PLA2R1 Ab level, enumeration of circulating plasmablasts and memory B cells represents an attractive and complementary tool to assess immunological activity and efficacy of RTX induced B cells depletion in anti-PLA2R1 Ab related MN.
A length-adjustable vacuum-powered artificial muscle for wearable physiotherapy assistance in infants
Authors: Samuel Dutra Gollob, Mijaíl Jaén Mendoza, Bon Ho Brandon Koo, Esteban Centeno, Emir A Vela, Ellen T Roche
Journal: Front Robot AI (2023)
Keywords: adaptable, artificial muscle, growing, soft robotics, wearable

Soft pneumatic artificial muscles are increasingly popular in the field of soft robotics due to their light-weight, complex motions, and safe interfacing with humans. In this paper, we present a Vacuum-Powered Artificial Muscle (VPAM) with an adjustable operating length that offers adaptability throughout its use, particularly in settings with variable workspaces. To achieve the adjustable operating length, we designed the VPAM with a modular structure consisting of cells that can be clipped in a collapsed state and unclipped as desired. We then conducted a case study in infant physical therapy to demonstrate the capabilities of our actuator. We developed a dynamic model of the device and a model-informed open-loop control system, and validated their accuracy in a simulated patient setup. Our results showed that the VPAM maintains its performance as it grows. This is crucial in applications such as infant physical therapy where the device must adapt to the growth of the patient during a 6-month treatment regime without actuator replacement. The ability to adjust the length of the VPAM on demand offers a significant advantage over traditional fixed-length actuators, making it a promising solution for soft robotics. This actuator has potential for various applications that can leverage on demand expansion and shrinking, including exoskeletons, wearable devices, medical robots, and exploration robots.
Endophthalmitis associated with Glaucoma Shunt Intraluminal Stent Exposure
Authors: Hye Jin Kwon, Nathan M Kerr, Jonathan B Ruddle, Ghee Soon Ang
Journal: J Curr Glaucoma Pract (2016)
Keywords: case study, endophthalmitis, glaucoma shunt, intraluminal stent
MeSH terms: Case Reports

Endophthalmitis post glaucoma drainage implant (GDI) surgery is rare, often associated with tube or plate exposure. We report a case of endophthalmitis following glaucoma shunt intraluminal stent exposure in a patient who underwent Baerveldt glaucoma implant surgery. Endophthalmitis following manipulation of intraluminal stents is a rare complication of GDIs but potentially vision threatening condition that needs to be carefully screened for and treated immediately. How to cite this article: Kwon HJ, Kerr NM, Ruddle JB, Ang GS. Endophthalmitis associated with Glaucoma Shunt Intraluminal Stent Exposure. J Curr Glaucoma Pract 2016;10(1):36-37.
Case Report: Take a Second Look: Covid-19 Vaccination-Related Cerebral Venous Thrombosis and Thrombotic Thrombocytopenia Syndrome
Authors: Tobias Braun, Maxime Viard, Martin Juenemann, Tobias Struffert, Frank Schwarm, Hagen B Huttner, Florian C Roessler
Journal: Front Neurol (2021)
Keywords: chadox1 ncov-19 vaccine, covid-19-vaccination, cerebral venous thrombosis, thrombotic thrombocytopenia syndrome, vaccine-induced thrombotic thrombocytopenia
MeSH terms: Case Reports

We present two cases of ChAdOx1 nCov-19 (AstraZeneca)-associated thrombotic thrombocytopenia syndrome (TTS) and cerebral venous sinus thrombosis (CVST). At the time of emergency room presentation due to persistent headache, blood serum levels revealed reduced platelet counts. Yet, 1 or 4 days after the onset of the symptom, the first MR-angiography provided no evidence of CVST. Follow-up imaging, performed upon headache refractory to nonsteroidal pain medication verified CVST 2-10 days after initial negative MRI. Both the patients received combined treatment with intravenous immunoglobulins and parenteral anticoagulation leading to an increase of platelet concentration in both the individuals and resolution of the occluded cerebral sinus in one patient.
Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing
Authors: Shuolin Li, Jing Liu, Yuan Yuan, Aizhen Lu, Fang Liu, Li Sun, Quanli Shen, Libo Wang
Journal: Front Pediatr (2022)
Keywords: goodpasture’s syndrome, kmt2d gene, kabuki syndrome, missense variant, whole exome sequencing
MeSH terms: Case Reports

Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this study, a 10-month-old male was diagnosed to have KS with typical facial features, skeletal anomalies, and serious postnatal growth retardation. Whole exome sequencing of the trio family revealed the presence of a de novo KMT2D missense variant (c.15143G > A, p. R5048H). The child was presented to the pediatric emergency department several times because of cough, hypoxemia, and anemia. After performing chest CT and fiberoptic bronchoscopy, we found that the child had a pulmonary hemorrhage. During research on the cause of pulmonary hemorrhage, the patient's anti-GBM antibodies gradually became positive, and the urine microalbumin level was elevated at the age of 12-month-old. After glucocorticoids and immunosuppressant therapy, the patient became much better. But he had recurrent pulmonary hemorrhage at the age of 16 months. Therefore, the patient underwent digital subtraction angiography (DSA). However, the DSA showed three abnormal bronchial arteries. This single case expands the phenotypes of patients with KS and Goodpasture's syndrome, which were found to have a de novo KMT2D missense variant.
Adenoid cystic carcinoma of cervix in younger women: report of two new cases
Authors: Mohamed Sinaa, Mohamed Oukabli, Abderahmane Albouzidi
Journal: Pan Afr Med J (2014)
Keywords: adenoid cystic carcinoma, cervix, radiotherapy
MeSH terms: Carcinoma, Adenoid Cystic / diagnosis, Uterine Cervical Neoplasms / diagnosis, Case Reports, Adult, Age Factors, Biopsy, Carcinoma, Adenoid Cystic / pathology, Carcinoma, Adenoid Cystic / radiotherapy, Female, Humans, Uterine Cervical Neoplasms / pathology, Uterine Cervical Neoplasms / radiotherapy

Adenoid cystic carcinoma is a malignant epithelial neoplasm derived from the salivary glands. Primary adenoid cystic carcinoma of the cervix is extremely rare, accounting for less than 1% of all cervical carcinomas. Its origin is debatable. It generally presents in elderly age group, however only twenty three cases have been reported in women less than age 45 years old. In this paper we report two new cases of primary adenoid cystic carcinoma in younger women and include the cytopathology and histopathology findings. A 36, 41 year-old women were admitted with signs and symptoms suggestive of a cervical cancer. Speculum examination showed a firm mass in the uterine cervix. The diagnosis of adenoid cystic carcinoma was confirmed by the histopathology examination of the biopsy specimen in the two patients, which characteristically revealed the presence of a cribriform pattern and cylindromatous structures of the tumor cells, adhered around hyaline stoma. They were managed successfully by concurrent radiotherapy. Adenoid cystic carcinoma of the cervix is a rare disease. It usually occurs in an elderly age group. We report these two cases because of its rarity in young patients, with description of illustrative pathology and discussion on the histological diagnosis.
Young Man with Hepatomegaly: A Case of Glycogenic Hepatopathy
Authors: Walid Abboud, Saif Abdulla, Mohammed Al Zaabi, Ramzi Moufarrej
Journal: Case Reports Hepatol (2018)
MeSH terms: Case Reports

Glycogenic hepatopathy is a rare but potentially reversible condition characterized by hepatomegaly and elevated liver enzymes occurring in poorly controlled type 1 diabetes mellitus patients and often requires a liver biopsy to confirm the diagnosis. We present the case of a young man who was admitted with diabetic ketoacidosis in the setting of poorly controlled diabetes mellitus type 1 and was noted to have significantly elevated transaminases that continued to worsen despite appropriate treatment of the diabetic ketoacidosis. A liver biopsy confirmed the diagnosis of glycogenic hepatopathy and the patient improved with diabetes control. The aim of this report is to shed light on possible causes of significant elevation of liver enzymes in patients presenting with diabetic ketoacidosis. In addition, we would like to raise awareness about the diagnosis, management, and prognosis of glycogenic hepatopathy and how to differentiate it from other hepatic conditions that have a similar presentation.
X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature
Authors: Mosopefoluwa Lanlokun, Amanda Borden, Daime Nieves, Jolan E Walter, Deborah Albright
Journal: Front Pediatr (2021)
Keywords: x-linked agamaglobulinemia, case report, immunodeficiency, immunoglobulin, neutropenia
MeSH terms: Case Reports

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency caused by mutations in the Bruton Tyrosine Kinase (BTK) gene. Marked neutropenia can be the initial abnormal laboratory finding in patients with XLA who are presenting with their first illness. The two cases presented herein support early consideration of evaluation for primary humoral immune deficiency in previously healthy male patients under the age of 12 months who present with neutropenia in the setting of infection shortly after passively acquired maternal antibody has sufficiently waned. Initial consideration of XLA (or other humoral immune deficiencies) in this particular population of young male neutropenic patients may afford the opportunity to avoid bone marrow biopsy in otherwise stable cases with similar presentations.
Pituitary Gland and Neurological Involvement in a Case of Hemophagocytic Syndrome Revealing an Intravascular Large B-Cell Lymphoma
Authors: Sylvain Raoul Simeni Njonnou, Bruno Couturier, Yannick Gombeir, Sylvain Verbanck, France Devuyst, Georges El Hachem, Ivan Theate, Anne-Laure Trepant, Virginie De Wilde, Frédéric-Alain Vandergheynst
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Intravascular large B-cell lymphoma is a rare entity characterized by the proliferation of neoplastic lymphocytes in the lumen of small blood vessels and high mortality. Diagnosis of intravascular lymphoma is often delayed or established postmortem. Here, we report the case of a 48-year-old woman presenting hemophagocytic syndrome, with pituitary gland and neurological involvement. Diagnosis of intravascular large B-cell lymphoma was made on perisplenic vessels, while liver and bone marrow biopsy was noncontributive. This case demonstrates the importance of thorough histopathologic investigations in the setting of high suspicion.
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient
Authors: Siyu Dai, Yanting Yang, Yaqian Li, Hongqian Liu
Journal: Genet Res (Camb) (2022)
MeSH terms: Methylmalonyl-CoA Mutase / genetics, Methylmalonyl-CoA Mutase / metabolism, Tandem Mass Spectrometry, Case Reports, Research Support, Non-U.S. Gov't, Amino Acid Metabolism, Inborn Errors, Child, Preschool, China, Female, Humans, Mutation, Methylmalonyl-CoA Mutase, Methylmalonic acidemia

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder mainly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MMUT) and leads to the reduced activity of MCM. In this study, a 3-year-old girl was diagnosed with carnitine deficiency secondary to methylmalonic acidemia by tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GS/MS). Whole-exome sequencing (WES) was performed on the patient and identified two compound heterozygous mutations in MMUT: c.554C>T (p. S185F) and c.729-730insTT (p. D244Lfs ∗ 39). Bioinformatics analysis predicted that the rare missense mutation of c.554C>T would be damaging. Moreover, this rare mutation resulted in the reduced levels of MMUT mRNA and MMUT protein. Collectively, our findings provide a greater understanding of the effects of MMUT variants and will facilitate the diagnosis and treatment of patients with MMA.
Endoscopic Treatment Using the Padlock Clip System for Rectourethral Fistula After Prostatectomy
Authors: Daniel De Barcellos Azambuja, Bruna Oliveira Trindade, Sarah Bueno Motter, Gabriela Rangel Brandão, Radames Lacava Schramm, Giovani Thomaz Pioner
Journal: Cureus (2023)
Keywords: endoscopic approach, fistula management, padlock clip, prostatectomy, rectourethral fistula
MeSH terms: Case Reports

We present a case of a 68-year-old man with a rectourethral fistula (RUF) successfully treated with a unique endoscopic approach using the Padlock Clip system (Steris, Basingstoke, UK). This is a complex case of a patient who, after radical prostatectomy, continued to show several complications, including fistulas and relapses. Our work aims to enhance the literature with our technique and to help the scientific community in future RUF cases. Our case stands out because this therapeutic approach has not yet been described in the literature as a possible endoscopic treatment of RUF. Therefore, our topic description is essential to assist future similar cases.
Anti-NMDA receptor encephalitis presenting as an acute psychotic episode misdiagnosed as dissociative disorder: a case report
Authors: Yuichiro Shimoyama, Osamu Umegaki, Tomoyuki Agui, Noriko Kadono, Toshiaki Minami
Journal: JA Clin Rep (2016)
Keywords: limbic encephalitis, misdiagnosis, n-methyl-d-aspartate (nmda) receptor encephalitis, paraneoplastic

Background:
In 2005, "anti-N-methyl-d-aspartate (NMDA) receptor encephalitis," a syndrome with prominent psychiatric symptoms, memory loss, decrease in level of consciousness, and central hypoventilation, was described in young women with ovarian teratomas and antibodies against an antigen highly expressed in the hippocampus. This report highlights the growing need for increased awareness among psychiatrists and other relevant medical professionals about this under-diagnosed disorder, which should be considered in differential diagnoses.
Case presentation:
A 19-year-old female with no psychiatric history presented to a district general hospital with acute psychosis, emotional lability, memory deficit, fluctuating behavioral changes such as wandering and babbling, and seizure. She was admitted to the hospital with a provisional diagnosis of dissociative disorder. Soon after admission, she developed aspiration pneumonia and was intubated for mechanical ventilation. She was transferred to our hospital for further assessment and admitted to the intensive care unit for ventilation. Laboratory test results were unremarkable, but her EEG showed non-specific slowing with no epileptiform activity, and brain computed tomography (CT) and MRI also showed no remarkable findings. Cerebrospinal fluid (CSF) analysis showed an elevated white blood cell count (15 cells/hpf; 70 % lymphocytes), and blood serum and CSF samples tested positive for NMDA receptor antibodies. Abdominal contrast-enhanced CT revealed an ovarian teratoma, which was subsequently removed laparoscopically. Postoperative immunotherapy (steroids, intravenous immunoglobulin, and plasmapheresis) led to gradual improvement. On day 25 of hospitalization, neuropsychological assessment demonstrated that overall, she had returned to her premorbid level of functioning. Her condition substantially improved over several months of cognitive rehabilitation, and she was eventually discharged on day 75.
Conclusions:
Anti-NMDA receptor encephalitis, a form of autoimmune encephalitis, is commonly associated with tumors and often misdiagnosed. Diagnosis can be confirmed by detecting NMDA receptor antibodies in the patient's serum or CSF. Management can be achieved with immunosuppressive therapy and tumor resection.