OpenMed/multicare-articles huggingface dataset:
A rare case of scedosporium apiospermum osteomyelitis in an immunocompetent patient
Authors: Aayushi J Rajani, Darshankumar Raval, Rohit Chitale, Ravindra Durvasula, Justin Oring, Ross Powers
Journal: IDCases (2024)
Keywords: caspofungin, dual antifungal therapy, scedosporium apiospermum, voriconazole
MeSH terms: Case Reports

Scedosporium, a widespread filamentous fungus found in diverse environments, has experienced a rise in cases due to escalating malignancies and chronic immunosuppression. Clinical manifestations span mycetoma, airway involvement, and various infections, with osteomyelitis being a notable complication. We present a case of a 77-year-old female initially displaying cutaneous Scedosporium signs, which progressed to osteomyelitis. The patient, with a history of trauma, chronic low dose steroid use, and underlying conditions, presented with a foot injury caused by her dog. Despite initial management, worsening symptoms led to the identification of Scedosporium. A comprehensive approach involving debridement, antimicrobial therapy, and reduction of immunosuppression resulted in clinical improvement. The rarity of zoonotic transmission, diagnostic challenges, and antifungal efficacy are also discussed. The patient's positive trajectory emphasizes early diagnosis, targeted treatment, and vigilance in managing immunosuppression. An adaptable treatment protocol is proposed based on risk factors. Considering the rising opportunistic fungal infections and delayed culture results, initiating empirical antifungals based on clinical judgment and regional prevalence is vital for favorable outcomes.
A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome
Authors: Cassie Chan, Lucy Emery, Caroline Maltese, Ashutosh Kumar, Ermal Aliu, Sunil Naik, Dustin Paul
Journal: Child Neurol Open (2023)
Keywords: chrne, cms, congenital myasthenic syndrome, neuromuscular, pediatric
MeSH terms: Case Reports

Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel homozygous variant (c.322C > T, p.Pro108Ser) in the epsilon subunit causing primary acetylcholine-receptor deficiency in two siblings. Two siblings presented with fatigable weakness. Both siblings had whole exome sequencing showing a homozygous variant (c.322C > T, p.Pro108Ser) of unknown significance in the epsilon subunit. Electromyography/nerve conduction study with repetitive nerve stimulation on one sibling showed a defect in neuromuscular junction transmission. Pseudoephedrine and fluoxetine for suspected slow-channel congenital myasthenic syndrome yielded no improvement. A trial of pyridostigmine led to clinical improvement. Given the clinical presentation, consanguinity, homozygous genetic variant, and response to pyridostigmine, we rationalize the homozygous variant (c.322C > T, p.Pro108Ser) in cholinergic receptor nicotinic epsilon subunit causes the primary acetylcholine-receptor deficiency congenital myasthenic syndrome.
The emergence of non-infectious epiglottitis after the era of Hemophilus influenza type B universal vaccination: two case reports and literature review
Authors: Alaa Safia, Rabie Shehadeh, Shlomo Merchavy
Journal: Front Pediatr (2024)
Keywords: airway, children, epiglottitis, non-infectious, pediatric
MeSH terms: Case Reports

Objective:
Following the global dissemination of vaccination protocols for Hemophilus influenza type B, the occurrence rate and burden of infectious epiglottitis decreased rapidly and substantially. However, this gave space to the rise of non-infectious causes, with children being more vulnerable than adults. This report aims to divert the clinician's attention to the existence of other non-infectious causes of epiglottitis, all of which require careful attention and timely management for favorable clinical outcomes.
Case summary:
Two cases with positive vaccination history were encountered in our practice. The first case was a 4-year-old girl, presenting with stridor drooling, and dyspnea, later complication by apnea. The fiberoptic exam revealed severe epiglottitic swelling with near-complete injury of the vocal cords with a circumferential burn. She did not respond to racemic epinephrine, and a tracheostomy was done. She was discharged after 6 days with minimal soft palate swelling. The second case was a 2-year-old boy presenting after exposure to an alkaline solution. The case exhibited similar symptoms but with white plaques and edema of the soft palate. The fiberoptic exam showed swelling and erythema of the supraglottic structures with partial obstruction. Although the blood culture was negative, he was intubated and given four intravenous boluses of dexamethasone and penicillin. On the fifth day, the patient was discharged after a normal fiberoptic examination.
Discussion:
These cases highlight a crucial shift in the etiology of epiglottitis post widespread Hemophilus influenza type B vaccination, underscoring the emergence of non-infectious causes, particularly in children. The two cases presented, both with vaccination histories, demonstrate diverse non-infectious triggers leading to severe epiglottitis. The first case, involving thermal injury, and the second, chemical exposure, both necessitated intensive interventions, including tracheostomy and intubation. These instances emphasize the need for heightened clinical vigilance for non-infectious epiglottitis, demanding prompt recognition and management to ensure positive outcomes. This shift in etiology calls for a reevaluation of traditional diagnostic and therapeutic approaches to pediatric epiglottitis.
Post-Hyaluronic Acid Recurrent Eyelid Edema: Pathophysiologic Mechanisms and a Proposed Treatment Protocol
Authors: Justin Karlin, Neil Vranis, Erez Dayan, Kami Parsa
Journal: Aesthet Surg J Open Forum (2023)
MeSH terms: Case Reports

Background:
Hyaluronic acid (HA) filler injections for facial augmentation are commonly administered but can lead to post-hyaluronic acid recurrent eyelid edema (PHAREE). The pathophysiology of this condition has not been fully understood.
Objectives:
To report the successful treatment of PHAREE using serial hyaluronidase and fractionated radiofrequency microneedling, with additional carbon dioxide laser skin resurfacing in selected patients.
Methods:
Five patients with PHAREE were treated with serial hyaluronidase injections and fractionated radiofrequency microneedling, with 2 patients receiving carbon dioxide laser treatment. The patients were followed up for a minimum of 24 months.
Results:
All patients reported a resolution of PHAREE signs/symptoms with no adverse effects or recurrence. One patient demonstrated complete resolution after a single treatment; 4 required a series of treatments.
Conclusions:
The proposed treatment protocol may provide advantages over hyaluronidase alone for PHAREE. The impermeable malar septum, vulnerable eyelid lymphatics, and potential immunogenicity of HA fragments likely contribute to PHAREE pathophysiology. Further research on pathophysiologic mechanisms is warranted.
Case report: Possible role of low-dose PEM for avoiding unneeded procedures associated with false-positive or equivocal breast MRI results
Authors: Madeline Rapley, Vivianne Freitas, Irving N Weinberg, Brandon Baldassi, Harutyun Poladyan, Michael Waterston, Sandeep Ghai, Samira Taeb, Oleksandr Bubon, Alla Reznik, Anna Marie Mulligan
Journal: Front Oncol (2024)
Keywords: breast mri, breast cancer overdiagnosis with mri, high specificity breast imaging, low-dose positron emission mammography, organ-targeted positron emission tomography
MeSH terms: Case Reports

Contrast-enhanced breast magnetic resonance imaging (MRI) is currently recommended as a screening tool for high-risk women and has been advocated for women with radiologically dense breast tissue. While breast MRI is acknowledged for its high sensitivity (with an exception for lower-grade ductal carcinoma in situ (DCIS) where emerging techniques like diffusion-weighted imaging offer improvement), its limitations include sensitivity to hormonal changes and a relatively high false-positive rate, potentially leading to overdiagnosis, increased imaging uncertainty, and unnecessary biopsies. These factors can exacerbate patient anxiety and impose additional costs. Molecular imaging with breast-targeted Positron Emission Tomography (PET) has shown the capability to detect malignancy independent of breast density and hormonal changes. Furthermore, breast-targeted PET has shown higher specificity when compared with MRI. However, traditional PET technology is associated with high radiation dose, which can limit its widespread use particularly in repeated studies or for undiagnosed patients. In this case report, we present a clinical application of low-dose breast imaging utilizing a breast-targeted PET camera (Radialis PET imager, Radialis Inc). The case involves a 33-year-old female patient who had multiple enhanced lesions detected on breast MRI after surgical removal of a malignant phyllodes tumor from the right breast. A benign core biopsy was obtained from the largest lesion seen in the left breast. One month after the MRI, 18F-fluorodeoxyglucose (18F-FDG) PET imaging session was performed using the Radialis PET Imager. Although the Radialis PET Imager has proven high count sensitivity and the capability to detect breast lesions with low metabolic activity (at a dose similar to mammography), no areas of increased 18F-FDG uptake were visualized in this particular case. The patient underwent a right-sided nipple-sparing mastectomy and left-sided lumpectomy, with bilateral reconstruction. The excised left breast tissue was completely benign, as suggested by both core biopsy and the PET results. The case presented highlights a promising clinical application of low-dose breast-targeted PET imaging to mitigate the uncertainty associated with MRI while keeping radiation doses within the safe range typically used in X-ray mammography.
Case report: Symmetrical and increased lateral sway-based walking training for patients with corpus callosum infarction: a case series
Authors: Ying Jiang, Sijing Chen, Dan Wu, Wei He, Xiaoqing Ma, Lixia Zhang, Qian Zhang
Journal: Front Neurol (2024)
Keywords: case report, corpus callosum, lower extremity, stroke, walking
MeSH terms: Case Reports

Introduction:
Corpus callosum injury is a rare type of injury that occurs after a stroke and can cause lower limb dysfunction and a decrease in activities of daily living ability. Furthermore, there are no studies that focus on the progress in rehabilitation of the lower limb dysfunction caused by infarction in the corpus callosum and the effective treatment plans for this condition. We aimed to present a report of two patients with lower limb dysfunction caused by corpus callosum infarction after a stroke and a walking training method.
Methods:
We implemented a walking training method that prioritizes bilateral symmetry and increases lateral swaying before the patients established sitting/standing balance. The plan is a rapid and effective method for improving walking dysfunction caused by corpus callosum infarction.
Case characteristics:
Following sudden corpus callosum infarction, both patients experienced a significant reduction in lower limb motor function scores and exhibited evident gait disorders. Scale evaluations confirmed that walking training based on symmetrical and increased lateral sway for patients with lower limb motor dysfunction after corpus callosum infarction led to significant symptom improvement.
Conclusion:
We report two cases of sudden motor dysfunction in patients with corpus callosum infarction. Symmetrical and increased lateral sway-based walking training resulted in substantial symptom improvement, as confirmed by scale assessments.
Surgical Management of Latissimus Dorsi and Teres Major Tears in a Water-Skiing Injury: A Case Report and Literature Review
Authors: Demitri Constantinou, Konstantinos Kastanos
Journal: Case Rep Orthop (2023)
MeSH terms: Case Reports

Tears of the latissimus dorsi and/or teres major tendons are uncommon, with no definitive management. Surgical repair has been reported in high-level athletes, mostly in baseball players. Simultaneous tears of both latissimus dorsi and teres major tendons are rare, with little known of surgical intervention outcomes. We report on the first published case of surgical repair of both latissimus dorsi and teres major tendon tears from a water-skiing injury in a 45-year-old male with favorable outcomes.
Case report: Additional variants induced sudden cardiac death among pediatric ACM with DSG2 homozygous mutant genotype: a report of three cases
Authors: Meng Wei, Yifei Li, Xiaoliang Liu, Kaiyu Zhou, Yu Qiu, Lei Liu, Lili Huang, Zhongqiang Liu
Journal: Front Genet (2024)
Keywords: arvc, dsg2, wes, additional mutation, sudden cardiac death
MeSH terms: Case Reports

Background:
Mutations in genes encoding desmosomal proteins are the leading cause of arrhythmogenic cardiomyopathy (ACM). The majority of the inherited ACM cases demonstrate autosomal dominant genotype. Several cases with the homozygous DSG2 c.1592T>G (p.F531C) variant genotype demonstrate adverse clinical outcomes, but the roles of associated genetic mutations are not clear. In this report, we describe three ACM cases with the homozygous DSG2 c.1592T>G (p.F531C) variant genotype combined with additional heterozygous cardiomyopathy-related genetic mutations that cause aggravated clinical manifestations and worse clinical outcomes.
Case presentation:
The three reported probands demonstrated similar clinical presentations such as heart failure, cardiac enlargement, and lethal arrhythmias. All of them experienced sudden cardiac death (SCD) before undergoing implantable cardioverter defibrillator (ICD) or heart transplantations. Whole-exome sequencing analysis demonstrated that the three patients inherited the homozygous DSG2 c.1592T>G (p.F531C) variant. Furthermore, probands I, II, and III also inherited additional heterozygous cardiomyopathy-associated mutations, including DSP c.7883T>C, SCN5a c.3577C>T, or MYH7 c.427C>T, respectively. These variants were confirmed as pathogenetic variants. A systematic review of all the reported ACM cases with the homozygous DSG2 variants suggested that the additional genetic mutations contributed to the early age onset of ACM and lethal cardiac events.
Conclusion:
In conclusion, we report three rare cases of ACM with the same homozygous DSG2 variant in combination with additional heterozygous mutations in cardiomyopathy-associated genes. A systematic review of all the ACM cases with homozygous DSG2 variants demonstrated that the additional genetic variants contributed to the aggravated clinical manifestations and worse clinical symptoms of the ACM patients because of homozygous DSG2 mutations, including early disease onset and lethal cardiac events. Our data suggested that comprehensive genetic evaluation should be performed to identify any potential additional pathogenic variants that may significantly influence the clinical prognosis and outcomes of patients with ACM. The knowledge of underlying molecular mutations would be useful in designing better therapeutic strategies for ACM patients with multiple genetic mutations.
Graves' disease post-COVID-19 m-RNA vaccine in pediatric age group
Authors: Abhaa Sulaiyam Al-Jahhafi, Asma Ali Al-Sawaai, Zamzam Khalifa Al-Bimani, Naima Khamis Al-Bulushi
Journal: Asia Ocean J Nucl Med Biol (2024)
Keywords: covid-19 vaccine, graves' disease, thyroiditis
MeSH terms: Case Reports

The surge of the COVID-19 pandemic (December / 2019 - May/2023) and its catastrophic effect worldwide have necessitated emergent intervention to reduce its influence on people's health and life. To eliminate and reduce the impact of COVID-19 infection, COVID-19 vaccination was emergently authorized in December 2020 which has established good safety and efficacy. Having said that, some adverse effects merged in a few individuals. We are reporting an adolescent patient a 17-year-old female who has been diagnosed with Graves' disease after post-COVID-19 vaccinations. In addition, she was a confirmed case of COVID-19 infection three months earlier. The patient presented with typical features of hyperthyroidism 30 days post receiving the first dose of the vaccination. Based on the patient's presentation relative to the administration of the vaccine and prior infection of the virus. We proposed the synergistic effect of both factors to induce Graves' disease in this young healthy female with no family history of autoimmune disease. We are reporting this case for pediatric endocrinologists to be aware of the interaction and possible impact of the COVID-19 vaccine on thyroid function.
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
Authors: Ugo Sorrentino, Luigi M Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: dystonia, myoclonus, pro170leu, sca21, spinocerebellar ataxia, tmem240
MeSH terms: Dystonia / diagnosis, Dystonia / genetics, Dystonic Disorders, Myoclonus / diagnosis, Myoclonus / genetics, Spinocerebellar Degenerations, Review, Case Reports, Ataxia, Humans, Hyperkinesis, Membrane Proteins, Rare Diseases, Syndrome, TMEM240 protein, human, Membrane Proteins, Myoclonic dystonia, Spinocerebellar ataxia 21

Background:
Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in TMEM240. A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease.
Case series:
We describe two newly identified families harboring the recurrent pathogenic TMEM240 p.Pro170Leu variant. Both index patients and the mother of the first proband developed movement disorders, manifesting as myoclonic dystonia and action-induced dystonia without co-occurring ataxia in one case, and pancerebellar syndrome complicated by action-induced dystonia in the other. We reviewed the literature on TMEM240 variants linked to hyperkinetic disorders, comparing our cases to described phenotypes.
Discussion:
Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21. TMEM240 mutation should be included in the differential diagnosis of myoclonic dystonia and ataxia-dystonia syndromes.
A Fatal Case of Legionella bozemanii Pneumonia in an Immunocompetent Patient
Authors: Atif Saleem Siddiqui
Journal: Case Rep Pulmonol (2024)
MeSH terms: Case Reports

Legionella bozemanii pneumonia is a rare form of Legionnaires' disease caused by the bacterium Legionella bozemanii. It is well known to cause pneumonia in immunocompromised patients and has rarely been reported in immunocompetent hosts. We describe a case of a 59-year-old immunocompetent female presented with pneumonia, acute respiratory failure, acute respiratory distress, and septic shock, who was treated with azithromycin, goal-directed resuscitation, and extracorporeal membrane oxygenation (ECMO) but did not survive. Clinicians should have high suspicion of rare legionella pathogens as causative agents for pneumonia.
Case Report: Efficacy of albumin dialysis for the reversal of bile cast nephropathy-induced acute kidney injury
Authors: Aaron G Issac, Michael A Yu, Desiree M Rogers, Ram M Subramanian
Journal: Front Nephrol (2023)
Keywords: acute kidney injury, bile cast nephropathy, case report, extracorporeal liver support, molecular adsorbent recirculating system
MeSH terms: Case Reports

Background:
Bile cast nephropathy (BCN) is an underdiagnosed renal complication associated with severe hyperbilirubinemia and is seen in patients with liver failure who have cholestatic complications. BCN-induced acute kidney injury (AKI) can require hemodialysis (HD), and the molecular adsorbent recirculating system (MARS) is a potentially useful therapeutic option.
Case summary:
A 57-year-old male presented with jaundice persisting for 1 month, with laboratory test results indicative of hyperbilirubinemia and AKI. Abdominal imaging and a biopsy confirmed biliary ductal dilation secondary to a pancreatic head mass. The patient had rapidly progressive renal failure and refractory hyperbilirubinemia, despite biliary decompression, and was started on HD. Subsequent therapy with albumin dialysis therapy using MARS was successful in reversing the AKI, the cessation of HD, and the restoration of native renal function.
Conclusion:
In the setting of BCN-induced AKI, timely initiation of MARS can provide a useful therapeutic strategy to reverse renal dysfunction and facilitate intrinsic renal recovery.
Challenging diagnosis of Plasmodium ovale malaria in a Colombian traveler: the importance of including P. ovale wallikeri in molecular screening
Authors: Carlos Nieto-Clavijo, Liliana Morales, Angela Patricia Guerra Vega, Liliana Jazmín Cortés Cortés, Jacqueline Chaparro-Olaya
Journal: Rev Inst Med Trop Sao Paulo (2024)
MeSH terms: Malaria / diagnosis, Plasmodium ovale / genetics, Plasmodium ovale / isolation & purification, Polymerase Chain Reaction, Case Reports, Adult, Cameroon, Colombia, DNA, Protozoan / analysis, Humans, Male, Travel

This study reports a challenging diagnosis of Plasmodium ovale malaria in a Colombian citizen returning from Cameroon. Initial microscopy screenings conducted at two private hospitals yielded conflicting results, with the first showing negative smears and the second diagnosing P. vivax. Subsequent microscopy examinations at two government laboratories identified P. ovale, although the routine species-specific PCR strategy was negative. PCR confirmation was finally obtained when P. ovale wallikeri primers were used. Although P. ovale is not frequently found in Colombia, there is a clear need to include both P. ovale curtisi and P. ovale wallikeri in the molecular diagnostic strategy. Such need stems primarily from their extended latency period, which affects travelers, the increasing number of African migrants, and the importance of accurately mapping the distribution of Plasmodium species in Colombia.
Physiotherapy Strategies in Hypokalemic Periodic Paralysis: A Case Report
Authors: Gunjan S Ambalkar, Neha Arya, Grisha Ratnani, Raghumahanti Raghuveer, Akshaya Saklecha
Journal: Cureus (2024)
Keywords: balance, case report, hypokalemic periodic paralysis, muscle weakness, neurophysiotherapy, physiotherapy, physiotherapy strategy
MeSH terms: Case Reports

The rare neuromuscular disease known as hypokalemic periodic paralysis (hypoKPP), which results in severe muscle weakness in the extremities, is brought on by abnormalities in potassium transport within cells. Laboratory testing is confirmatory, which reveals notably low potassium levels, causing paralysis, which improves once the low potassium is restored. The patient generally complains of muscle weakness with difficulty in performing activities of daily living and impaired participation in functional tasks, with few suffering from coexisting sensory impairments. Physiotherapy generally plays a symptomatic role with motion exercises for the affected muscle groups. There is no standardized physiotherapy protocol for disease-specific impairments. A 46-year-old man complained of bilateral upper and lower limb muscular weakness and was admitted to the neurology ward. The patient also complained of having tingling numbness throughout their entire limbs and had experienced similar episodes of symptoms six months prior. During laboratory evaluation, a significantly low potassium level was found, leading to a diagnosis of hypoKPP. Following medical management, neurophysiotherapy was initiated. Physiotherapy strategy shows significant improvement in muscular strength and functional activities. Thus, this case report concludes that physiotherapy plays a vital role in managing hypoKPP by enhancing muscular strength, functional activities, and quality of life.