OpenMed/multicare-articles huggingface dataset:
Amanita Mushroom Toxin Poisoning in Los Angeles County
Authors: Parker G Jobin, Connor Stewart, Aarshi Vipani, Ingrid Perez-Alvarez, Samuel Pepkowitz, Ellen Klapper, Anders Berg, Kaytlena Stillman, Sam Torbati, Alexander Kuo, Hirsh Trivedi, Ju Dong Yang, Jonathan Steinberger, Richard J Van Allan, Oren Friedman, Kathryn Cardoza, Walid S Ayoub
Journal: ACG Case Rep J (2023)
Keywords: amatoxin, acute liver failure, case report, mushroom poisoning, silibinin
MeSH terms: Case Reports

Mushroom (amatoxin) poisoning from ingestion is a rare but life-threatening medical emergency characterized by gastrointestinal symptoms before progression to multisystem organ failure in severe cases. Many therapies of amatoxin intoxication have been described, including supportive care, medical therapies, detoxification strategies, and liver transplant. The evidence supporting these therapies remains limited due to the rarity of amatoxin poisoning and challenge of a timely diagnosis. We report a case of amatoxin poisoning in Los Angeles causing severe liver injury without acute liver failure treated successfully using medical therapies, gallbladder drainage, and plasma exchange.
Maternal, newborn and breast milk concentrations of elexacaftor/tezacaftor/ivacaftor in a F508del heterozygous woman with cystic fibrosis following successful pregnancy
Authors: Pietro Ripani, Matteo Mucci, Stefano Pantano, Maria Di Sabatino, Francesca Collini, Giulia Ferri, Mario Romano, Antonio Recchiuti
Journal: Front Med (Lausanne) (2023)
Keywords: cftr modulator therapy, f508del cftr, r334w cftr, drug monitoring, mass spectrometry, novel therapies, pregnancy
MeSH terms: Case Reports

With the introduction of elexacaftor/tezacaftor/ivacaftor (ETI), more women with cystic fibrosis (CF) are likely to grow families. Hence, an understanding long-term safety and effects of CFTR modulators on fertile women and children while monitoring their concentrations is crucial. Here, we report on the development of an improved LC-MS/MS methodology to measure ETI concentrations in maternal and child blood and breastmilk, applied in one case of successful pregnancy of a 30-year-old woman with CF (F508del/R334W). We observed that ETI remains stable in breastmilk, is absorbed by the infant and can be detected in child plasma. Our results confirm accumulating evidence of a successful pregnancy in women treated with CFTR modulators without significant side effects on the child and provide valuable analytical procedures suitable for the post-marketing evaluation of CFTR modulators in pregnant and lactating women, as well as in their infants.
MPO Expression of Background Neutrophils in MPO Negative Acute Promyelocytic Leukemia, An Easy Clue to Corroborate a Challenging Diagnosis: A Case Report and Review of Literature
Authors: Kritika Krishnamurthy, Jui Choudhuri, K H Ramesh, Yanhua Wang
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Acute promyelocytic leukemia (APL) is characterized by the pathogenic driver fusion transcript PML-RARA resulting from the t(15;17) translocation. Early recognition of APL with prompt ATRA induction has a decisive impact on the early death rate. The preliminary diagnosis of APL relies heavily on cytomorphology and flow cytometry. In APL with variant morphology, such as the microgranular variant, immunophenotype, especially the bright MPO positivity is the basis of diagnosis. Till date, only five cases of APL with reduced/absent MPO have been described in literature. The identification of MPO deficiency based on genetic testing would involve at the least a MPO gene scanning with NGS, followed by microarray to identify somatic uniparental disomy in heterozygotes. This testing is not only redundant given the scant clinical implications of heterozygous MPO deficiency but also time consuming. An easy way to identify background MPO deficiency confounding the immunophenotype of a myeloid neoplasm is the MPO expression in background neutrophils gated on the initial flow cytometry. A dim MPO in the background neutrophils, in the morphological setting of APL, can identify underlying MPO deficiency, clarifying the immunophenotypic ambiguity and thus establishing an unequivocal diagnosis as seen in the current case.
When Addressing Trauma Makes a Difference: A Case Report of Undiagnosed Complex Post-traumatic Stress Disorder
Authors: Mauro Pinho, Daniela O Martins, Mónica F Santos, Francisco Coutinho
Journal: Cureus (2024)
Keywords: bipolar disorder, childhood sexual abuse, cognitive-behavioral therapy, complex post-traumatic stress disorder, major depressive disorder, personality disorder, trauma
MeSH terms: Case Reports

Complex post-traumatic stress disorder (C-PTSD) is an emergent diagnosis, which acknowledges the impact of prolonged interpersonal abuse on affect regulation, interpersonal functioning, and self-concept. We present the case of a 59-year-old woman who remained undiagnosed and untreated for this condition for three decades while under follow-up in mental health services for the diagnosis of personality disorder and bipolar disorder. The patient suffered repeated sexual abuse in her childhood, resulting in intrusive traumatic memories she emotionally and cognitively avoided, dissociative amnesia, a persistent inability to experience positive emotions, a persistent sense of guilt, re-experiencing phenomena, and hypervigilance toward others and their intentions to harm her. She persistently believed herself to be worthless, defective, inferior, and lacking value; had a history of affective dysregulation resulting in suspicion of bipolar disorder; and displayed a pattern of relationship avoidance. Addressing chronic trauma and assessing its impact offered deeper contextualization of the patient's symptoms and proved pivotal in redefining her diagnosis and providing access to trauma-focused psychotherapy, which is the mainstay of treatment for C-PTSD.
Chronic Inflammatory Demyelinating Polyneuropathy as the Initial Presentation of Systemic Lupus Erythematosus Successfully Treated With Cyclophosphamide
Authors: Andrés D Sastre Martínez, María J Tróchez Ortiz, Lizeth V Zuluaga Gómez, Christian D Messu Llano
Journal: Cureus (2024)
Keywords: chronic inflammatory demyelinating polyneuropathy (cidp), cyclophosphamide pulse, inflammatory myositis, lupus nephritis, systemic lupus erythematosus
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is an autoimmune disorder that can manifest with a wide range of clinical features, including peripheral nervous system involvement. Among the neurological complications associated with SLE, chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare but significant entity. This case report explores the complex relationship between CIDP and SLE, emphasizing the challenges in diagnosis and the complexities of treatment strategies. We present the case of a patient diagnosed with CIDP as the initial manifestation of SLE, who exhibited a remarkable response to a unique treatment approach. This case underscores the potential overlap of these two conditions, the need for individualized diagnostic, and the importance of considering lupus activity when making therapeutic decisions. While conventional treatment approaches for CIDP are established, the management of CIDP in the context of SLE requires a thorough approach. This report presents a case where early intervention with steroids and cyclophosphamide yielded favorable outcomes, providing insights into alternative treatment options. As this subset of patients remains underrepresented in clinical trials, further research is needed to establish clear guidelines for the management of CIDP in SLE, optimizing patient care while minimizing risks associated with immunomodulatory therapies.
Cryoglobulinemic vasculitis triggered by Staphylococcus aureus endocarditis with chronic hepatitis C virus co-infection: a case report and literature review
Authors: Céline Reinberg, Sébastien Vingerhoets, Olesya Pavlova, Emmanuella Guenova, Matthaios Papadimitriou-Olivgeris, Denis Comte
Journal: Front Immunol (2024)
Keywords: staphylococcus aureus, bacteremia, case report, cryoglobulinemic vasculitis, endocarditis, tricuspid valve
MeSH terms: Coinfection, Cryoglobulinemia / complications, Cryoglobulinemia / diagnosis, Cryoglobulinemia / etiology, Endocarditis, Bacterial / complications, Endocarditis, Bacterial / diagnosis, Endocarditis, Bacterial / etiology, Hepatitis C, Chronic / complications, Staphylococcal Infections / complications, Staphylococcus aureus, Vasculitis / etiology, Case Reports, Review, Anti-Bacterial Agents / therapeutic use, Hepacivirus, Humans, Male, Middle Aged, Anti-Bacterial Agents

Infective endocarditis is a rare but life-threatening condition, occasionally linked to diverse immunologic manifestations, including mixed cryoglobulinemia. This can lead to cryoglobulinemic vasculitis, which has the potential for widespread organ damage. Although some cases have highlighted the relationship between infective endocarditis and cryoglobulinemic vasculitis, no comprehensive epidemiological evaluation or optimal treatment strategies have been advanced for such a combination. We present a case of methicillin-sensitive Staphylococcus aureus infective endocarditis associated with cryoglobulinemic vasculitis and conduct a literature review to compare management and outcomes in similar cases. Our patient presented with classical Meltzer's triad and mild renal involvement. Cryoimmunofixation confirmed type III cryoglobulinemia, and serum cytokines showed elevated IL-6 levels. The differential diagnosis included infective endocarditis and chronic active hepatitis C virus infection. Rapid symptom resolution after antibiotic treatment identified infective endocarditis as the likely cause of cryoglobulinemic vasculitis. Our case and review of the literature highlight that early identification of the cause of cryoglobulinemic vasculitis is crucial for selecting appropriate treatment and preventing recurrence or morbidity.
Surprising Resolution of Life-Long Severe Generalized Hyperhidrosis Post-angioplasty and Stenting
Authors: Juwayria A Ahmed, Khudheeja A Ahmed, Mohammed Habeeb Ahmed
Journal: Cureus (2024)
Keywords: angioplasty and stenting, coronary artery disease, generalized hyperhidrosis, primary hyperhidrosis, secondary hyperhidrosis
MeSH terms: Case Reports

Hyperhidrosis (HH) is a condition characterized by excessive sweating beyond thermoregulation needs. HH can be primary with no known etiology or secondary, as a symptom of underlying medical disease or a side effect of certain medications. Furthermore, HH can be focal, affecting one or a few body parts, or generalized, affecting the entire body. We present the case of a 49-year-old male with a history of primary generalized HH as well as coronary artery disease whose HH symptoms surprisingly resolved following coronary angioplasty and stenting. This unprecedented outcome of the procedure points to a potential association between HH and coronary artery disease, proposing potential management of HH through cardiovascular workup. In light of this result, we suggest that patients exhibiting generalized primary HH undergo a thorough comprehensive cardiovascular workup.
Slowly Growing Pulmonary Glandular Papilloma with Air Bronchogram: A Case Report
Authors: Taehoon Lim, Jongsoo Park, Heejung Kwon
Journal: J Belg Soc Radiol (2024)
Keywords: papilloma, case report, growth, lung neoplasms, radiology, solitary pulmonary nodule
MeSH terms: Case Reports

Pulmonary glandular papilloma is a rare benign neoplasm that has not been studied extensively. This neoplasm presents as a solid nodule, consolidation, or mass, with or without atelectasis, and assessing the correlation between these findings and the risk of malignancy is challenging. A 60-year-old woman presented a solitary pulmonary nodule on screening chest radiography and chest computed tomography (CT). During the subsequent 2-year follow-up, CT showed a progressive increase in nodule size and an air bronchogram, suggesting malignancy. The patient underwent a right upper lobectomy, and the final diagnosis was glandular papilloma. Teaching point: Pulmonary glandular papilloma with growth and an air bronchogram.
Case report: Self-expanding transcatheter valve implantation (Acurate Neo 2) in a very small native aortic annulus
Authors: Massimo Medda, Francesco Casilli, Marta Bande, Maurizio Tespili, Francesco Donatelli
Journal: Front Cardiovasc Med (2023)
Keywords: aortic valve stenosis, cardio-ct, prosthesis–patient mismatch (ppm), small aortic annulus, transcatheter aortic valve replacement (tavr)
MeSH terms: Case Reports

Transcatheter aortic valve replacement (TAVR) is a treatment of choice in patients with symptomatic severe aortic valve stenosis (AS) and intermediate-to-high surgical risk. The presence of a small aortic annulus (SAA) has been associated with a higher incidence of prosthesis-patient mismatch (PPM) when surgical aortic valve replacement (sAVR) is performed. TAVR might be a treatment option offering better hemodynamics with a lower incidence of PPM. When a severe AS with a SAA is treated, TAVR-related risk as the coronary obstruction and the annulus rupture, must be also prevented. We present a case of a TAVR in a very small aortic annulus; to our knowledge, this is the smallest native aortic annulus treated percutaneously in a tricuspid stenotic aortic valve with a Self-Expanding Transcatheter Heart Valve (THV) Acurate Neo 2.
Case report: Periventricular heterotopia and early-onset bipolar disorder in adolescent patient with history of childhood attention deficit hyperactivity disorder
Authors: Seo-Hyun Cho, Ju-Yeon Lee, Honey Kim, Sung-Wan Kim, Jae-Min Kim, Il-Seon Shin
Journal: Front Psychiatry (2024)
Keywords: adolescent, attention deficit-hyperactivity disorder, bipolar disorder, depression, periventricular heterotopia
MeSH terms: Case Reports

Periventricular heterotopia (PH) is a developmental malformation in the brain. Because the clinical symptoms are heterogeneous, few studies have investigated the psychiatric symptoms associated with PH. We describe the case of a 17-year-old male with bipolar disorder (BD), who had been treated for attention deficit-hyperactivity disorder (ADHD) and developmental delay in childhood. He had experienced depression for 1 year and was admitted to the emergency room following a suicide attempt. He was admitted to the psychiatric ward for further evaluation and treatment for elated mood, decreased need for sleep, increased sexuality, and delusion. The patient was diagnosed with BP-I disorder and PH via brain magnetic resonance imaging. After combined treatment with valproic acid and aripiprazole, his manic symptoms stabilized. To our knowledge, this is the first report of an adolescent PH case with a history of early onset BD and ADHD in childhood.
Hepatic Benign Cystic Mesothelioma in Adults: A Case Report of a Rare Hepatic Cyst
Authors: Abdullah Mohamed, Sherif Elsherif, Raafat Makary
Journal: Cureus (2024)
Keywords: benign cystic mesothelioma, cystic lesion, hepatic cyst, peritoneal inclusion cyst, primary liver lesion
MeSH terms: Case Reports

Benign cystic mesothelioma (BCM), also known as peritoneal inclusion cyst, is a benign mesothelial lined cystic lesion, nearly always described in the pelvis of adult females. The hepatic location of BCM is rarely reported in the literature. We report a case of hepatic benign cysts in a 65-year-old woman that was incidentally discovered by imaging studies 12 years ago as a small cyst. Recently, the patient started having abdominal discomfort, distension, and anxiety. A CT scan revealed two low-density fluid-filled cystic lesions, the largest in the caudate lobe measuring up to 10.7 cm and causing a mass effect on hepatic veins and inferior vena cava. Laparoscopic marsupialization of the large liver cyst was done without complications. On gross examination, the collapsed cyst wall was a thin partly translucent pale tan to pink membranous structure with fine vascularity. No discrete nodularity or solid lesion was identified. Microscopic examination showed a thin fibro-connective wall lined by a single layer of flat cuboidal cells with no cellular atypia. The cyst lining showed characteristic calretinin-positive immunohistochemical reactivity for mesothelium, supporting the diagnosis of BCM. Hepatic BCM is among a broad differential spectrum of cystic liver lesions ranging from developmental, reactive, inflammatory, and infectious lesions, benign to premalignant or frankly malignant neoplasms with different treatment strategies. Although BCM is the rarest among the long list of differential diagnoses of hepatic cysts, its identification in this rarely reported location is essential to avoid aggressive surgical treatment.
Endoscopic Resection of Tailgut Cyst
Authors: Oleksandr Kiosov, Vladyslav Tkachov, Sergii Gulevskyi
Journal: Case Rep Gastrointest Med (2024)
MeSH terms: Case Reports

Tailgut cyst or retrorectal cystic hamartoma is a rare congenital lesion, thought to arise from a portion of the embryological hindgut, usually benign, with no or unspecific symptoms, mainly diagnosed in middle-aged women. Complete surgical resection of the cyst is recommended to avoid complications and confirm the diagnosis. In this report, we present our experience in the successful endoscopic management of a tailgut cyst, outlining the endoscopic resection technique and discussing under what conditions this approach may be applicable.
Combined tracheoesophageal transection following a life-threatening clothesline-type blunt neck trauma: A case report
Authors: Ramin Ebrahimian, Maziar Moayerifar, Mahboobeh Gholipour, Maede Mohammadian, Mani Moayerifar
Journal: Int J Surg Case Rep (2024)
Keywords: case report, clothesline-type trauma, esophageal injury, tracheal transection
MeSH terms: Case Reports

Introduction:
Blunt neck trauma is an uncommon, life-threatening injury that may result in tracheoesophageal transection. The manifestations of these traumas are rather vague and nonspecific; therefore, the injury may be missed, if a careful attention is not paid.
Case presentation:
A 23-year-old young man presented with complete transection of the trachea and concurrent esophageal injury, caused by clothesline-type blunt neck trauma, while riding a motorcycle. On early examination, the patient was hemodynamically stable; however, after a few minutes, he manifested respiratory distress and progressive subcutaneous emphysema. The airway immediately was secured by inserting an endotracheal tube in distal part of the transected trachea. Afterward, the patient underwent primary repair of transected trachea and esophagus, and tracheostomy. The post-operative period was uneventful.
Discussion:
The blunt traumas to neck, which lead to complete transection of the trachea and the esophagus, are rare injuries. Clothesline-type injuries are the principal reasons for cricotracheal separation and further esophageal injuries. In most cases, subcutaneous emphysema is a sign of significant trauma to the aerodigestive tract. After securing the patient's airway, early surgical repair of the transected trachea and esophagus reduces the risk of further complications.
Conclusion:
This report discusses a rare, life-threatening presentation of blunt neck trauma called clothesline-type injury, that led to complete transection of the trachea and concurrent esophageal rupture. Establishing a secure airway for those patients with tracheal injuries is required. Repairing the injured trachea and esophagus primarily at the earliest possible time can improve the patient prognosis and prevent further complications.
Case report: Metagenomics next-generation sequencing in the diagnosis of septic shock due to Fusobacterium necrophorum in a 6-year-old child
Authors: Haiyang Zhang, Zhongqiang Liu, Yuanlin Guan, Deyuan Li, Hanmin Liu, Lingying Ruan
Journal: Front Cell Infect Microbiol (2024)
Keywords: fusobacterium necrophorum, case report, children, metagenomics next-generation sequencing, sepsis
MeSH terms: Lemierre Syndrome, Shock, Septic / diagnosis, Case Reports, Anti-Bacterial Agents / therapeutic use, Child, Female, Fusobacterium necrophorum / genetics, High-Throughput Nucleotide Sequencing, Humans, Anti-Bacterial Agents

Fusobacterium necrophorum (F. necrophorum) infection is rare in pediatrics. In addition, the detection time of F. necrophorum by blood culture is long, and the positive rate is low. Infection with F. necrophorum bacilli usually follows rapid disease progression, resulting in high mortality. In previous reports of F. necrophorum-related cases, the most dangerous moment of the disease occurred after the appearance of Lemierre's syndrome. We report an atypical case of a 6-year-old female patient who developed septic shock within 24 h of admission due to F. necrophorum infection in the absence of Lemierre's syndrome. F. necrophorum was identified in a blood sample by metagenomics next-generation sequencing (mNGS) but not by standard blood culture. The patient was finally cured and discharged after receiving timely and effective targeted anti-infection treatment. In the present case study, it was observed that the heightened virulence and invasiveness of F. necrophorum contribute significantly to its role as a primary pathogen in pediatric septic shock. This can precipitate hemodynamic instability and multiple organ failure, even in the absence of Lemierre's syndrome. The use of mNGS can deeply and rapidly identify infectious pathogens, guide the use of targeted antibiotics, and greatly improve the survival rate of patients.
Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease
Authors: Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo
Journal: Front Genet (2023)
Keywords: anderson–fabry disease, case report, de novo pathogenic variant, one family member, renal disease
MeSH terms: Case Reports

Background: Anderson-Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha-galactosidase A enzyme are produced, which may or may not function. These mutations are responsible for Fabry disease, and to date, over 800 different mutations of the gene have been described in patients with Anderson-Fabry disease. In this case, we report the case of a woman who is the sole family member with this type of mutation. Case presentation: We report a case of a 52-year-old woman with end-stage chronic kidney disease in dialysis treatment. The patient's alpha-galactosidase activity was 6.6 nmol/ml/h in whole blood, and lyso-GB3 levels were 11.45 nmol/L (normal range < 2.3 nmol/L). Alpha-galactosidase A gene sequence analysis revealed a pathogenic variant of c.947dupT in exon 6, leading to the p. I317NfsTer16 amino acid substitution. The genetic analysis did not detect the same mutation in any of the other screened family members. Conclusion: The international Fabry disease genotype-phenotype database (dbFGP) reports a pathogenic variant c.947dupT in exon 6 that is probably associated with a classical phenotype of Fabry disease. In this case report, we report the case of a woman who is the sole family member with this type of pathogenic variant. Similar situations have not been described in the literature for this pathogenic variant, and it represents an important case of inter- and intrafamilial variability in patients with Fabry disease. The literature shows that de novo pathogenic variants are frequently found in the context of Fabry disease.