OpenMed/multicare-articles huggingface dataset:
Sarcoidosis Following Hematopoietic Stem Cell Transplantation: Clinical Characteristics and HLA Associations
Authors: Rebecca Isabel Wurm-Kuczera, Judith Buentzel, Julia Felicitas Leni Koenig, Tobias Legler, Jan-Jakob Valk, Justin Hasenkamp, Wolfram Jung, Jan-Gerd Rademacher, Peter Korsten, Gerald Georg Wulf
Journal: Front Immunol (2021)
Keywords: hla, allo and autologous transplantation, hematopoietic stem cell transplantation, immunology, sarcoidosis
MeSH terms: HLA Antigens / genetics, Hematopoietic Stem Cell Transplantation / adverse effects, Sarcoidosis / etiology, Case Reports, Adult, Aged, Haplotypes, Humans, Incidence, Male, Middle Aged, Sarcoidosis / epidemiology, HLA Antigens

Purpose:
Extrinsic factors and genetic predisposition contribute to the etiology of sarcoidosis, converging in a phenotype of altered immune response associated with multisystemic inflammatory granulomatous tissue infiltration. Immunological reconstitution after hematopoietic stem cell transplantation (HSCT) may represent a unique window for the pathogenesis of the disease. We describe the incidence, clinicopathological features, and HLA associations of sarcoidosis after HSCT in a single-center cohort of patients, together with data from previously published cases.
Methods:
We retrospectively analyzed clinical characteristics and HLA haplotypes from allogeneic (allo) or autologous (auto) HSCT patients from January 2001 through May 2021 at the University Medicine Goettingen (UMG), and data from previously published cases.
Results:
A total number of 19 patients was identified. These included 4 patients from our center (3 allo HSCT and 1 auto HSCT) and 15 patients from the literature review. Thirteen patients had received an allo HSCT, and six patients had received an auto HSCT. Sarcoidosis occurred after a median interval of 20 (after allo HSCT) and 7 (after auto HSCT) months, respectively. The predominant HLA allele associated with sarcoidosis was HLA DRB1*03:01. Sarcoidosis involved the respiratory tract in 15 patients (three unknown, one without pulmonary involvement), and it was associated with graft-versus-host disease in 7 of 13 patients receiving allo HSCT. None of the donors or patients had a history of sarcoidosis before transplantation. Disease manifestations resolved with standard glucocorticoid treatment without long-term sequelae.
Conclusion:
Sarcoidosis may occur at low frequency during reconstitution of the immune system after HSCT. HLA allele associations reflect the associations observed in the general population, particularly with DRB1*03:01. Further insights into the interplay between Tcell reconstitution and the development of sarcoidosis could also provide novel approaches to an improved understanding of the pathogenesis in sarcoidosis.
Iron Deficiency Anemia in Adult Onset Still's Disease with a Serum Ferritin of 26,387 μg/L
Authors: Sheetal Patel, Seyed Monemian, Ayesha Khalid, Harvey Dosik
Journal: Anemia (2011)
MeSH terms: Case Reports

Serum ferritin rises in the anemia of chronic inflammation reflecting increased iron storage and other changes mediated by inflammation. When iron deficiency coexists, the ferritin may not always decline into the subnormal range. We describe the rare interaction of iron deficiency with the extreme hyperferritinemia characteristic of adult onset Still's disease. The combination has clinical relevance and allows deductions about the presence of serum ferritin at 26,387 μg/L despite obvious iron depletion. The diagnosis of iron deficiency anemia was delayed and became fully obvious when her Still's disease remitted and serum ferritin decreased to 6.5 μg/L. The coexistence of iron deficiency should be considered when evaluating a patient with anemia of chronic inflammation even when the ferritin level is elevated several hundredfold. Further insights on ferritin metabolism in Still's disease are suggested by the likelihood that the patient's massive hyperferritinemia in the acute phase of Still's disease was almost entirely of the iron-free apoferritin form.
Correlation versus causation? Pharmacovigilance of the analgesic flupirtine exemplifies the need for refined spontaneous ADR reporting
Authors: Nora Anderson, Juergen Borlak
Journal: PLoS One (2011)
MeSH terms: Adverse Drug Reaction Reporting Systems, Aminopyridines / adverse effects, Analgesics / adverse effects, Pharmacovigilance, Case Reports, Comparative Study, Research Support, Non-U.S. Gov't, Adult, Bile Duct Diseases / chemically induced, Bile Duct Diseases / complications, Bile Duct Diseases / epidemiology, Causality, Chemical and Drug Induced Liver Injury / complications, Chemical and Drug Induced Liver Injury / epidemiology, Female, Germany / epidemiology, Humans, Liver / pathology, Liver Diseases / complications, Liver Diseases / epidemiology, Liver Diseases / pathology, Liver Diseases / physiopathology, Liver Function Tests, Male, Middle Aged, Virus Diseases / chemically induced, Virus Diseases / complications, Virus Diseases / epidemiology, World Health Organization, Aminopyridines, Analgesics, flupirtine

Annually, adverse drug reactions result in more than 2,000,000 hospitalizations and rank among the top 10 causes of death in the United States. Consequently, there is a need to continuously monitor and to improve the safety assessment of marketed drugs. Nonetheless, pharmacovigilance practice frequently lacks causality assessment. Here, we report the case of flupirtine, a centrally acting non-opioid analgesic. We re-evaluated the plausibility and causality of 226 unselected, spontaneously reported hepatobiliary adverse drug reactions according to the adapted Bradford-Hill criteria, CIOMS score and WHO-UMC scales. Thorough re-evaluation showed that only about 20% of the reported cases were probable or likely for flupirtine treatment, suggesting an incidence of flupirtine-related liver injury of 1∶100,000 when estimated prescription data are considered, or 0.8 in 10,000 on the basis of all 226 reported adverse drug reactions. Neither daily or cumulative dose nor duration of treatment correlated with markers of liver injury. In the majority of cases (151/226), an average of 3 co-medications with drugs known for their liver liability was observed that may well be causative for adverse drug reactions, but were reported under a suspected flupirtine ADR. Our study highlights the need to improve the quality and standards of ADR reporting. This should be done with utmost care taking into account contributing factors such as concomitant medications including over-the-counter drugs, the medical history and current health conditions, in order to avoid unjustified flagging and drug warnings that may erroneously cause uncertainty among healthcare professionals and patients, and may eventually lead to unjustified safety signals of useful drugs with a reasonable risk to benefit ratio.
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman
Authors: Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Tomasz Tadeusz Godowicz, Francesca Marta Elli, Giovanna Mantovani, Emilio Di Maria
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Clinical history revealed carpo-pedal spasm since the age of 30 years, cognitive impairment, hypothyroidism since early adulthood, and menopause at 30 years. She was taking oral calcium and cholecalciferol for chronic hypocalcemia. Physical features suggested Albright's osteodystrophy. Blood calcium was confirmed low, with increased parathyroid hormone, moderate 25OH-vitamin D deficiency, and normal creatinine. Brain CT scan revealed calcifications of the basal ganglia, cortical and subcortical white matter, and cerebellum. Therapy was switched to oral calcitriol, with normalization of calcium levels; levetiracetam was started and no further seizures occurred. The clinical diagnosis of PHP1A was confirmed by molecular analysis, which demonstrated the heterozygous c.568_571del mutation of the GNAS gene. Our report illustrates the natural history of a patient with PHP1A, which went undiagnosed until the age of 64 years, with multi-hormonal resistance and clinical sequelae evolving throughout life, and underlines the importance of diagnosing this rare disease, which has a great impact on patients and their family life.
Difficulty in the Clinical Diagnosis of Tularemia: Highlighting the Importance of a Physical Exam
Authors: Rupin Kumar, Mohamed Mansour, Jacqueline Brunetto, Renuka Verma, Margaret Fisher, Jonathan Teitelbaum
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

We report an 18-month-old male who presented with fever and nonspecific symptoms. He was evaluated for multiple differential diagnoses including Kawasaki disease and JIA and received treatment for them. After he was readmitted, tularemia was considered based on the physical exam finding of an ulcer on the scalp and enlarged lymph nodes. Tularemia titers were positive, and the patient was given the appropriate antibiotic and was discharged home. Follow-up of the patient showed complete resolution of symptoms. This is a case that demonstrates the importance of physical exam in identifying rare diseases presenting with common signs and symptoms.
Histoplasmosis, heart failure, hemolysis and haemophagocytic lymphohistiocytosis
Authors: Nitin Gupta, Kutty Sharada Vinod, Ankit Mittal, Aswin Pius Ajay Kumar, Arvind Kumar, Naveet Wig
Journal: Pan Afr Med J (2019)
Keywords: pulmonary arterial hypertension, immunocompetent, pancytopenia
MeSH terms: Antifungal Agents / administration & dosage, Heart Failure / etiology, Histoplasmosis / diagnosis, Lymphohistiocytosis, Hemophagocytic / etiology, Case Reports, Adult, Amphotericin B / administration & dosage, Fever / etiology, Hemolysis, Hepatomegaly / etiology, Histoplasmosis / complications, Histoplasmosis / drug therapy, Humans, Immunocompetence, Itraconazole / administration & dosage, Male, Pancytopenia / etiology, Splenomegaly / etiology, Antifungal Agents, Itraconazole, Amphotericin B

Histoplasmosis is an endemic mycosis with global distribution, primarily reported in immunocompromised individuals. A 29-year old immunocompetent male presented with fever, hepatosplenomegaly and pancytopenia. His peripheral blood showed features suggestive of intravascular hemolysis and echocardiography showed features suggestive of pulmonary arterial hypertension. Bone marrow showed yeast with morphology suggestive of Histoplasma capsulatum. Further investigations revealed hyperferritinemia, hypofibrinogenemia and increased triglycerides. With a diagnosis of progressive disseminated histoplasmosis with secondary Haemophagocytic lymphohistiocytosis, he was successfully treated with amphotericin B followed by itraconazole. We report this case to highlight the atypical and rare manifestations of histoplasmosis.
CT diagnosis of small bowel obstruction caused by internal hernia from persistent attachment of a Meckel's diverticulum to the umbilicus by the obliterated omphalomesenteric duct
Authors: Davide Bellini, Marco Maria Maceroni, Giuseppe Cavallaro, Domenico De Santis, Olga Iorio, Marco Rengo, Gianfranco Silecchia, Andrea Laghi
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

We report a case of small bowel obstruction (SBO) caused by internal hernia from persistent attachment of a Meckel's diverticulum (MD) to the umbilicus by the obliterated omphalomesenteric duct that was diagnosed by multidetector CT and confirmed during laparoscopic surgery. Although clinical, pathological and radiological features of MD and its complications are well known, the diagnosis of MD is difficult to establish preoperatively. CT findings that allow the diagnosis of this very unusual cause of SBO are presented here with laparoscopic surgery correlation.
CT and MRI Features of Pediatric-Aged Colloid Cysts: Report of Two Cases
Authors: Hidayatullah Hamidi, Fazel Rahman Faizi, Najibullah Rasouly, Mer Mahmood Shah Hoshang
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

A 10-year-old boy with the history of headache, anorexia, and vomiting was referred to our department to undergo a brain CT scan. CT images demonstrated a well-defined, rounded, hyperdense lesion at the level of the foramen of Monro causing moderate dilatation of the lateral ventricles. An 11-year-old girl with a long history of a headache was also referred to undergoing a brain MRI. MR images demonstrated a well-defined round abnormal signal intensity lesion at the level of the foramen of Monro causing moderate dilatation of lateral ventricles. The findings from imaging perspective were consistent with the colloid cyst of the third ventricle. Therefore, the diagnosis of the colloid cyst was made.
Endoscopic management of an internal laryngopyocele presenting with acute airway obstruction
Authors: Zenon Andreou, Premjit S Randhawa, Paul O'Flynn, Francis M Vaz
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Statement of Problem. Laryngocele is a rare laryngeal disease, where there is an abnormal dilatation of the saccule of the laryngeal ventricle. It can either be internal or external, and a laryngopyocele is a rare complication of this anomaly. Internal laryngopyoceles can prove difficult to manage, as they often present with airway compromise. Method of Study. Case Report. Results. We present a case of a laryngopyocele that was successfully managed with suspension laryngoscopy and endoscopic marsupialisation and resection. To our knowledge, this is the first such case described in the literature. Conclusions. Surgical drainage of a laryngopyocele via the external approach is well documented in the literature. We feel that endoscopic resection of laryngopyoceles in an emergency situation is a viable alternative and also prevents the associated surgical morbidity.
Two case reports of familial chylomicronemia syndrome
Authors: Yan-Hui Chen, Zhong-Ling Ke, Yan-Xia Wang, Yong Wang, Yong-Zhi Zheng
Journal: Case Rep Pediatr (2012)
MeSH terms: Case Reports

Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
Unusual Variant of Unicystic Ameloblastoma with CEOT-Like Areas: A Rare Case Report with Review of Literature
Authors: Venkata Ramanand Oruganti, Shylaja Sanjeevareddygari, Manay Srinivas Munisekhar, Sharath Kumar Reddy Eppalapalli, Raghu Vamshi Vishwakarma, Kiran Kumar Ganji, Kiran R Halkai, Rahul Halkai
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Ameloblastoma is an epithelial odontogenic neoplasm with clinical and histological diversity. They are locally invasive tumors with 3 clinical variants such as solid, unicystic, and peripheral ameloblastomas, and the unicystic variant constitutes only 13%. Histologically, it shows diverse microscopic patterns that may occur isolated or in combination with other patterns. The granular cell variant accounts for 3.5% of all ameloblastoma cases. The eosinophilic granules seen in the cytoplasm of the tumor are thought to be lysosomes and presumably contribute to the pathogenesis of the tumor. Although such a phenomenon is rare in unicystic ameloblastoma, granular cell differentiation in solid multicystic ameloblastoma is a well-established phenomenon. In this paper, we present a unique case of unicystic ameloblastoma with granular cell differentiation with a brief review.
Pediatric tumefactive multiple sclerosis case (with baló-like lesions), diagnostic and treatment challenges
Authors: Christina Kamari, Emmanouil Galanakis, Maria Raissaki, George Briassoulis, Georgia Vlachaki, Pelagia Vorgia
Journal: Neurol Sci (2023)
Keywords: baló concentric sclerosis, fingolimod, pediatric multiple sclerosis, tumefactive multiple sclerosis
MeSH terms: Brain Neoplasms / pathology, Diffuse Cerebral Sclerosis of Schilder / diagnostic imaging, Diffuse Cerebral Sclerosis of Schilder / drug therapy, Multiple Sclerosis / diagnostic imaging, Multiple Sclerosis / drug therapy, Case Reports, Brain / diagnostic imaging, Brain / pathology, Child, Child, Preschool, Humans, Magnetic Resonance Imaging, Male, Neoplasm Recurrence, Local / pathology

Background:
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system, rare during childhood. MS variations, like tumefactive MS and Balo concentric sclerosis, constitute puzzling to treat diagnostic dilemmas for pediatric patients. Differential diagnosis, mainly from brain tumors, is an absolute necessity. In addition, apart from treating acute attacks, immunomodulatory alternatives are limited.
Case:
We present a 12.5-year-old boy diagnosed, 5 years ago, with tumefactive relapsing-remitting MS, with severe recurrent clinical attacks. Definite diagnosis of demyelination was achieved via combined brain imaging including magnetic resonance (MR) imaging, MR spectroscopy and computed tomography, avoiding brain biopsy. Acute attacks showed satisfactory response to aggressive treatment choices, like plasmapheresis and cyclophosphamide, but age-appropriate immunomodulating treatment was available, only 2 years later. Finally, after a last radiological relapse, when he was 10 years old, fingolimod was initiated. He has been clinically and radiologically stable since, presenting an excellent treatment tolerance.
Case Report: An Atypical Presentation of Panic Disorder Masquerading as Possession Trance
Authors: Howard C H Khoe, Alakananda Gudi
Journal: Front Psychiatry (2022)
Keywords: chinese, culture-bound syndrome, panic disorder, possession trance, psychiatry, religion
MeSH terms: Case Reports

This case report demonstrates an atypical presentation of panic disorder which masqueraded as episodes of possession trance. Patient X is a 62-year-old Chinese female who presented with recurrent episodes of uncontrollable screaming and shaking of all four limbs. During these episodes, she reported auditory hallucinations (Buddhist chanting) and visual hallucinations (a rotting corpse) which she attributed to the influence of "evil spirits." She was diagnosed with panic disorder with culture-specific symptoms on a background of major depressive disorder. With an understanding of the patient's belief system and an empathetic approach during psychoeducation, she eventually accepted the use of pharmacotherapy. She was prescribed escitalopram (started at 2.5 mg OM) and clobazam (10 mg ON) with good clinical effect and cessation of episodes afterward.
Use of Phage Cocktail BFC 1.10 in Combination With Ceftazidime-Avibactam in the Treatment of Multidrug-Resistant Pseudomonas aeruginosa Femur Osteomyelitis-A Case Report
Authors: Karlis Racenis, Dace Rezevska, Monta Madelane, Ervins Lavrinovics, Sarah Djebara, Aivars Petersons, Juta Kroica
Journal: Front Med (Lausanne) (2022)
Keywords: p aeruginosa, bacteriophage, biofilm, multidrug resistance, osteomyelitis, phage therapy
MeSH terms: Case Reports

High-energy trauma with severe bone fractures can be complicated by infection, leading to the development of osteomyelitis. Pseudomonas aeruginosa is an important causative agent of such infections because of its high virulence profile and ability to develop resistance against a wide range of antimicrobials quickly. P. aeruginosa biofilms cause treatment failure and relapsing infections. Bacteriophages are viruses that can be used to treat biofilm-associated infections. Moreover, the combination of phages with certain antimicrobials have demonstrated synergistic and additive effects. We present a case of a 21-year-old patient with relapsing multidrug-resistant (MDR) P. aeruginosa femur osteomyelitis that developed after a road accident, with a proximal right femoral Grade III B open fracture and severe soft tissue damage. Despite extensive antimicrobial treatment and multiple surgical interventions with wound debridement, the infection persisted, with subsequent development of femoral osteomyelitis with a fistula. Patient care management included femoral head excision with wound debridement, intravenous (IV) ceftazidime-avibactam, and the local application of the lytic Pseudomonas bacteriophage cocktail BFC 1.10. Nine months after the intervention, the patient did not show any clinical, radiological, or laboratory signs of inflammation; therefore, hip replacement was performed. Nevertheless, recurrent P. aeruginosa infection evolved at the distal side of the femur and was successfully treated with conventional antimicrobials. In this case, wound debridement combined with antibiotics and bacteriophages resulted in bacterial eradication of proximal femoral segment, avoiding leg amputation, but failed to treat osteomyelitis in distal bone segment. An in vitro assessment of the isolated MDR P. aeruginosa strain for biofilm formation and phage susceptibility was performed. Additionally, the antimicrobial effects of ceftazidime-avibactam and BFC 1.10 were determined on planktonic cell growth and bacterial biofilm prevention was evaluated. The isolated bacterial strains were susceptible to the bacteriophage cocktail. Strong biofilm formation was detected 6 h after inoculation. Ceftazidime-avibactam combined with BFC 1.10 was most effective in preventing planktonic cell growth and biofilm formation. In both cases, the required concentration of ceftazidime-avibactam decreased two-fold. This study demonstrates the possible use of bacteriophages and antibiotics in difficult-to-treat bone and soft tissue infections, where the additive effects of phages and antibiotics were observed.
Treatment of severe acute ulcerative colitis in SARS-CoV-2 infected patients: report of three cases and discussion of treatment options
Authors: Arno R Bourgonje, Reinier C A van Linschoten, Rachel L West, Maarten A van Dijk, Coretta C van Leer-Buter, Gursah Kats-Ugurlu, Marieke J Pierik, Eleonora A M Festen, Rinse K Weersma, Gerard Dijkstra
Journal: Therap Adv Gastroenterol (2021)
Keywords: covid-19, ibd, sars-cov-2, case series, ulcerative colitis
MeSH terms: Case Reports

In the wake of the coronavirus disease 2019 (COVID-19) pandemic, it is unclear how asymptomatic severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-infected patients who present with acute severe ulcerative colitis (UC) can be treated effectively and safely. Standard treatment regimens consist of steroids, immunomodulatory drugs, and biological therapies, but therapeutic decision-making becomes challenging as there are uncertainties about how to deal with these drugs in patients with COVID-19 and active UC. Importantly, guidelines for this particular group of patients with UC are still lacking. To inform therapeutic decision-making, we describe three consecutive cases of patients with active UC and COVID-19 and discuss their treatments based on theoretical knowledge, currently available evidence and clinical observations. Three patients were identified through our national inflammatory bowel disease network [Initiative on Crohn's and Colitis (ICC)] for whom diagnosis of SARS-CoV-2-infection was established by reverse transcription-polymerase chain reaction (RT-PCR) testing in nasopharynx, stools, and/or biopsies. Acute severe UC was diagnosed by clinical parameters, endoscopy, and histopathology. Clinical guidelines for SARS-CoV-2-negative patients advocate the use of steroids, calcineurin inhibitors, or tumor necrosis factor alpha (TNF-α)-antagonists as induction therapy, and experiences from the current three cases show that steroids and TNF-α-antagonists could also be used in patients with COVID-19. This could potentially be followed by TNF-α-antagonists, vedolizumab, or ustekinumab as maintenance therapy in these patients. Future research is warranted to investigate if, and which, immunomodulatory drugs should be used for COVID-19 patients that present with active UC. To answer this question, it is of utmost importance that future cases of patients with UC and COVID-19 are documented carefully in international registries, such as the SECURE-IBD registry.