OpenMed/multicare-articles huggingface dataset:
Massive Pulmonary Embolism Related to a Patient With Heart Failure Secondary to Stress Cardiomyopathy: A Case Report
Authors: Juan Andres Pimentel-Esparza, Mariana Rios-Gomez, Jorge Antonio Cervantes-Nieto, Juan Alan Fuentes Mendoza
Journal: Cureus (2024)
Keywords: pulmonary and cardiac pathophysiology, pulmonary embolism (pe), rare case report, takotsubo cardiomyopathy (ttc), venous thromboembolism (vte)
MeSH terms: Case Reports

Venous thromboembolism (VTE) is a common disease, which includes deep venous thrombosis (DVT) and pulmonary embolism (PE). It is the third most common cardiovascular disorder, affecting predominantly the male elderly population. Stress cardiomyopathy (SC) is a transitorily cardiovascular condition produced after an emotional or physical trigger, and it features signs and symptoms of acute coronary syndrome. Its pathophysiological mechanisms remain unclear, and SC has also been related to critical complications such as heart failure, arrhythmias, left ventricular outflow obstruction, and thromboembolic events. This case report highlights the association of PE and SC that might play a pathophysiological role.
Extensive spinal epidural abscess due to Streptococcus intermedius: a case report treated conservatively and literature review
Authors: Dianqi Liu, Weijie Lu, Wenbin Huang, Wenrun Zhai, Qinjie Ling
Journal: Front Neurol (2023)
Keywords: streptococcus intermedius, antibiotic, decompression, magnetic resonance imaging, spinal epidural abscess
MeSH terms: Case Reports

Purpose:
To describe the clinical significance of prompt, adequate, and targeted intravenous antibiotic (IV antibiotic) therapy in the successful management of spinal epidural abscess (SEA) associated with Streptococcus intermedius (S. intermedius) infection.
Case description:
SEA is a rare, but catastrophic infection that may result in a high risk of permanent neurological disability. A 52-year-old Chinese female patient was presented to the emergency department due to 2 years of low back pain and 3 days of decreased muscle strength in the extremities. The blood culture confirmed the presence of S. intermedius infection, and gadolinium-enhanced magnetic resonance imaging (MRI) demonstrated widespread epidural abscesses in the cervical, thoracic, and lumbar spine canal. Empirical IV antibiotic therapy with vancomycin was promptly initiated, with meropenem and moxifloxacin added subsequently based on blood culture results. After 5 days of IV antibiotic treatment, the patient's blood culture became negative. 6 weeks later, a follow-up MRI showed a decrease in the size of the abscess. The patient's muscle strength was mostly restored after 2 months of IV antibiotic treatment.
Conclusion:
Repeat examinations or gadolinium-enhanced MRI should be considered when initial MRI findings are not diagnostic of SEA. For extensive SEA caused by Streptococcus intermedius infection, surgery may be non-essential, and the judicious antibiotic selection and adequate treatment duration are pivotal for successful conservative management. Furthermore, for patients who are not amenable to surgery, a comprehensive evaluation of their condition and meticulous implementation of a precise pharmacological regimen holds noteworthy clinical significance.
Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome
Authors: Flavia Costanza, Giampaolo Papi, Stefania Corrado, Alfredo Pontecorvi
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: goltz-gorlin syndrome, x-linked disorders, focal dermal hypoplasia, papillary thyroid carcinoma, rare genetic syndromes
MeSH terms: Carcinoma, Papillary / drug therapy, Carcinoma, Papillary / surgery, Focal Dermal Hypoplasia / complications, Focal Dermal Hypoplasia / genetics, Focal Dermal Hypoplasia / pathology, Thyroid Neoplasms / complications, Thyroid Neoplasms / pathology, Thyroid Neoplasms / surgery, Case Reports, Acyltransferases, Adolescent, Child, Female, Humans, Iodine Radioisotopes / therapeutic use, Membrane Proteins / genetics, Thyroid Cancer, Papillary / drug therapy, Thyroid Cancer, Papillary / surgery, Iodine Radioisotopes, PORCN protein, human, Acyltransferases, Membrane Proteins

Goltz-Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple organs, ocular malformations, and mild facial dysmorphism. To date, only approximately 300 cases have been described in the literature. A 16-year-old female patient, born with multiple congenital dysmorphisms consistent with GGS and confirmed by genetic exam, was referred to our outpatient clinic for the workup of a thyroid nodule. A thyroid ultrasound showed a bilateral nodular disease with a 17-mm large hypoechoic nodule in the right lobe. Cytological exam of fine needle aspiration biopsy was suspicious for malignancy. Thus, she underwent total thyroidectomy plus lymphadenectomy of the right central compartment. A histological exam disclosed a papillary thyroid carcinoma (PTC) with lymph node micrometastases. Radioiodine (131-Iodine) therapy was performed. At 3- and 6-month follow-up, the patient did not present either ultrasound or laboratory PTC recurrence. To our knowledge, we report the first case of PTC in a patient with GGS. Since thyroid cancer is rare among children and adolescents, we hypothesize that the PORCN pathogenic variant could be responsible for tumor susceptibility. We also provide an overview of the clinical findings on GGS patients already reported and discuss the possible pathogenetic mechanism that may underlie this rare condition, including the role of PORCN in tumor susceptibility.
Predicting age at onset of childhood obesity using regression, Random Forest, Decision Tree, and K-Nearest Neighbour-A case study in Saudi Arabia
Authors: Salem Hamoud Alanazi, Mali Abdollahian, Laleh Tafakori, Kheriah Ahmed Almulaihan, Salman Mutarid ALruwili, Omar Falleh ALenazi
Journal: PLoS One (2024)
MeSH terms: Age of Onset, Decision Trees, Pediatric Obesity / epidemiology, Adolescent, Child, Child, Preschool, Female, Humans, Male, Random Forest, Risk Factors, Saudi Arabia / epidemiology

Childhood and adolescent overweight and obesity are one of the most serious public health challenges of the 21st century. A range of genetic, family, and environmental factors, and health behaviors are associated with childhood obesity. Developing models to predict childhood obesity requires careful examination of how these factors contribute to the emergence of childhood obesity. This paper has employed Multiple Linear Regression (MLR), Random Forest (RF), Decision Tree (DT), and K-Nearest Neighbour (KNN) models to predict the age at the onset of childhood obesity in Saudi Arabia (S.A.) and to identify the significant factors associated with it. De-identified data from Arar and Riyadh regions of S.A. were used to develop the prediction models and to compare their performance using multi-prediction accuracy measures. The average age at the onset of obesity is 10.8 years with no significant difference between boys and girls. The most common age group for onset is (5-15) years. RF model with the R2 = 0.98, the root mean square error = 0.44, and mean absolute error = 0.28 outperformed other models followed by MLR, DT, and KNN. The age at the onset of obesity was linked to several demographic, medical, and lifestyle factors including height and weight, parents' education level and income, consanguineous marriage, family history, autism, gestational age, nutrition in the first 6 months, birth weight, sleep hours, and lack of physical activities. The results can assist in reducing the childhood obesity epidemic in Saudi Arabia by identifying and managing high-risk individuals and providing better preventive care. Furthermore, the study findings can assist in predicting and preventing childhood obesity in other populations.
Small cell lung cancer with dermatomyositis: a case report
Authors: Xiaomin Guan, Shi Qiu, Yinghui Xu, Jianjiao Zu, Chao Sun, Ye Guo, Xu Wang, Kewei Ma
Journal: Front Oncol (2024)
Keywords: sclc, dermatomyositis, lung cancer, paraneoplastic syndrome, small cell lung cancer
MeSH terms: Case Reports

Dermatomyositis represents an autoimmune disorder characterized by notable skin and muscular manifestations. The annual incidence of dermatomyositis stands at approximately (5~10)/1 million individuals. Notably, patients with malignant tumors exhibit an elevated risk of developing dermatomyositis compared to the general population. However, in cases where dermatomyositis co-occurs with malignancy, the efficacy of hormone therapy alone tends to be suboptimal. Moreover, reports addressing the correlation between tumor treatment and the management of dermatomyositis are scarce. A 60-year-old male patient presented with dermatomyositis, initially manifesting through symptoms such as rash, muscle weakness, and dysphagia. Despite undergoing standard hormone therapy, there was no discernible improvement in the dermatomyositis symptoms. Considering the patient's concomitant troublesome cough, further investigations were conducted, including CT, PET-CT, and pathological biopsy. These assessments confirmed the diagnosis of limited-stage small cell lung cancer (T1cN3M0 IIIB). Notably, in this patient, dermatomyositis was suspected to be a paraneoplastic syndrome associated with small cell lung cancer. Standard chemotherapy and radiotherapy were employed to treat the small cell lung cancer, resulting in partial remission after two treatment cycles. As the malignancy regressed, a notable improvement in dermatomyositis symptoms was observed, subsequently leading to a gradual reduction in the prescribed hormone dosage. In conclusion, we present a comprehensive case study of dermatomyositis as a paraneoplastic syndrome throughout the treatment process. The response to tumor therapy coincided with the amelioration of dermatomyositis symptoms. Therefore, diligent malignancy screening is imperative for patients diagnosed with dermatomyositis.
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan
Authors: Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano
Journal: Front Med (Lausanne) (2024)
Keywords: leber congenital amaurosis, rpe65 gene mutation, electroretinography, inherited retinal dystrophy, whole exome sequencing
MeSH terms: Case Reports

Introduction:
In Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital amaurosis (LCA).
Case report:
The patient, diagnosed with LCA, exhibited infantile nystagmus and reported experiencing night blindness since early childhood. At 27 years of age, the patient underwent an ophthalmologically evaluation. Corrected visual acuity was Snellen equivalent 20/133 in the right eye and Snellen equivalent 20/100 in the left eye. Fundus examination revealed alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels. Fundus autofluorescence imaging demonstrated a generally diminished autofluorescent signal. Full-field electroretinography identified a generalized dysfunction of both rod and cone systems in each eye. Whole exome sequencing identified a novel missense variant in RPE65 (NM_000329.3): c.1172C > A p.(Ala391Asp), which was classified as pathogenic, as well as a recurrent variant p.(Arg515Trp).
Conclusion:
This study provides valuable insights into the genotype-phenotype correlation of RPE65-associated LCA in Japanese patients, with critical implications for enhanced diagnostic accuracy and informed therapeutic decisions.
Treatment of Advanced Gingival Recession Secondary to Surgical Failure with Large Size Deepithelized Gingival Graft Associated with a Modified Tunnel Flap
Authors: Lingzhou Zhao, Yuan Gao, Yihan Xiao, Xinwei Tan, Xiaochen Li, Tianzheng Deng
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Objective:
To describe the use of a large size deepithelized gingival graft (DGG) associated with full-split tunnel technique in a clinical case of advanced gingival recession secondary to surgical failure (GRSF). Clinical Considerations. The presented case report helped to achieve satisfactory root coverage, ideal keratinized tissue gain, improvement in soft tissue quality and esthetics, scar deformity correction, and vestibular depth deepening with a one-step procedure of large size DGG associated with full-split tunnel technique for a condition of deep gingival recessions of 7-11 mm caused by a failed bone implantation surgery.
Conclusions:
The large size DGG associated with full-split tunnel technique provided a versatile one-step procedure to obtain ideal results for advanced GRSF. Clinical Significance. GRSF that is generally associated with inadequate keratinized tissue and scar formation could be rather difficult to deal with. The large size DGG associated with full-split tunnel technique, as a one-step procedure, provided a predictable and practical treatment modality.
Successful β-blocker introduction under intra-aortic balloon pumping and ivabradine in a patient with new-onset dilated cardiomyopathy and pulsus alternans: a case report
Authors: Takeshi Kashimura, Mitsuo Ishizuka, Komei Tanaka, Takayuki Inomata
Journal: Eur Heart J Case Rep (2023)
Keywords: beta-blocker, calcium overload, case report, intra-aortic balloon pump, ivabradine, left ventricular reverse remodelling, mechanical alternans, pulsus alternans
MeSH terms: Case Reports

Background:
Pulsus alternans has been considered a sign of poor prognosis in patients undergoing treatments for heart failure. However, it may be overlooked in patients with intra-aortic balloon pumps (IABPs). The use of IABP and ivabradine for a β-blocker introduction in a patient with dilated cardiomyopathy (DCM) and pulsus alternans and its consequence have never been reported.
Case summary:
In a 16-year-old high school boy with idiopathic DCM [left ventricular end-diastolic diameter (LVDd), 72 mm; left ventricular ejection fraction (LVEF), 18%], the introduction of carvedilol therapy failed, causing cardiogenic shock under inotropes. Therefore, an IABP support was provided, and he was transferred to our hospital. The arterial pressure waveform under IABP demonstrated pulsus alternans with sinus tachycardia at 135/min. Ivabradine reduced the heart rate to ∼100/min and eliminated the pulsus alternans neither decreasing the cardiac index nor increasing the pulmonary artery wedge pressure. Subsequently, carvedilol was reintroduced, and IABP and inotropes were discontinued. Then, 112 days after his transfer to our hospital, left ventricular reverse remodelling was confirmed (LVDd, 54 mm; LVEF, 44%), and he returned to school. The carvedilol dose reached 20 mg/day in 4 months after discharge, and further improvement was observed a year after discharge (LVDd, 54 mm; LVEF, 52%).
Discussion:
Pulsus alternans is considered a predictor of poor prognosis. However, IABP and ivabradine may stabilize the haemodynamics in pulsus alternans, leading to a successful β-blocker introduction.
Prominent Enlargement of the Facial Nerve Canal in a Case of a Persistent Stapedial Artery
Authors: Alexandra Libeert, Stefan Delrue, Marc Lemmerling
Journal: J Belg Soc Radiol (2024)
Keywords: computed tomography, conductive hearing loss, facial nerve canal, foramen spinosum, persistent stapedial artery
MeSH terms: Case Reports

In this case report, we present a 23-year-old patient with complaints of a recurrent plop sound in the left ear. Non-contrast CT and MR imaging revealed an enlargement of the tympanic segment of the facial canal due to venous congestion. A persistent stapedial artery (PSA) and absent foramen spinosum were identified as concomitant factors. This unique combination of anomalies has not been previously reported and knowledge about this condition is essential to avoid unnecessary surgery.
Teaching point:
A persistent stapedial artery may be associated with enlargement of the tympanic facial nerve canal due to venous congestion.
The alternative vagal maneuver; converting atrioventricular nodal re-entrant tachycardia by a rectal thermometer
Authors: Yuval Avidan, Amir Aker, Vsevolod Tabachnikov
Journal: Oxf Med Case Reports (2024)
MeSH terms: Case Reports

Vagal maneuvers are techniques used to increase parasympathetic tone, particularly useful in the management of hemodynamically stable supraventricular tachycardias. If ineffective, adenosine can be attempted. We present a patient with atrioventricular nodal re-entrant tachycardia (AVNRT), who could not effectively perform Valsalva maneuvers and had contraindications for carotid massage and adenosine administration, that converted into sinus rhythm by using a rectal thermometer. This maneuver was reproduced on various occasions. We suggest that rectal vagal maneuver may provide an additional therapeutic modality for selected patients with AVNRT.
Pleomorphic Adenoma of the Palate: Diagnostic and Surgical Strategy
Authors: Ciré Ndiaye, Mame Sanou Diouf, Houra Ahmed, Arame Thiam, Ngoné Diaba Diop, Aminata Mbaye, Mamadou Woury Barry, Mame Diarra Bousso Ba
Journal: Case Rep Otolaryngol (2024)
MeSH terms: Case Reports

Pleomorphic adenoma is a benign tumor of the salivary glands. It develops preferentially in the parotid gland. The authors report a localization of a pleomorphic adenoma on the palate and discuss the value of CT scan in therapeutic strategy.
Asymmetric fracture dislocation of the hips: case report
Authors: Hassan Hachicha, Mohamed Chaker, Safouen Ben Brahim, Mehdi Meddeb, Hassen Makhlouf, Mondher Mestiri
Journal: Pan Afr Med J (2024)
Keywords: dislocation, asymmetric, case report, fracture, hip
MeSH terms: Accidents, Traffic, Hip Dislocation / diagnostic imaging, Hip Dislocation / etiology, Hip Dislocation / surgery, Hip Fractures / etiology, Hip Fractures / surgery, Case Reports, Adult, Anesthesia, General / methods, Fracture Dislocation / diagnostic imaging, Humans, Male

Bilateral asymmetric hip fracture dislocation is an extremely rare entity. The injury is caused by a high velocity mechanism. We reported a case of bilateral hip fracture dislocation and its management. A 30-year-old man with no previous medical or surgical history was involved in a road accident involving a high-speed collision between two trucks. X-rays of the pelvis revealed asymmetrical bilateral fracture-luxation of the hips. The reduction of the hips was done under general anesthesia. Asymmetrical bilateral traumatic dislocation fracture of the hip is a rare serious injury. Reduction must be performed within 6 hours. Short- and long-term monitoring of the patient is essential.
Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs
Authors: Glaucia Suzanna Jong-A-Liem, Talita Helena Martins Sarti, Mariusi Glasenapp Dos Santos, Luciano Marcus Tirotti Giacon, Raphael Wuo-Silva, Alex Machado Baeta, José Maria de Campos Filho, Feres Chaddad-Neto
Journal: Front Neurol (2024)
Keywords: av fistulas, pten gene mutation, dural arteriovenous fistula (davf), gene variant, pseudotumor cerebri
MeSH terms: Case Reports

Introduction:
Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies.
Clinical presentation:
A previously healthy 27-year-old woman was experiencing visual scintillating scotomas and mild chronic headaches for the past 2 years. The initial computed tomographic (CT) and magnetic resonance imaging (MRI) scans did not reveal any abnormalities, but the possibility of pseudotumor cerebri was considered. Furthermore, a cerebral angiogram showed a posterior fossa dural arteriovenous fistula (dAVF), which was initially treated through embolization. However, in spite of proper treatment, this patient experienced multiple recurrent dAVFs in different locations, requiring multiple embolizations and surgeries. Despite exhibiting altered cerebral perfusion and hemodynamics, the patient did not display any significant symptoms until she experienced a sudden stroke resulting from deep venous thrombosis, which was not associated with any medical procedures or medication use. A comprehensive analysis was performed due to the aggressive nature of the dAVFs. Surprisingly, exome sequencing of a blood sample revealed a PTEN gene variant in chromosome 10, indicative of Cowden syndrome. However, no tumors or other vascular lesions were detected in other systems that would constitute Cowden syndrome.
Conclusion:
The rapid formation of multiple and complex dAVFs, coupled with not meeting the criteria for any other PTEN-related syndrome, unequivocally leads to the presentation of a novel phenotype of the PTEN germline variant.
Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum
Authors: Wilker Dias Martins, Elisa França Chaves, Flavia Cristina Gonçalves de Aquino, Sean Brasil de Oliveira, Isabela Dorneles Pasa, Bruno Guimarães Marcarini, Vitor Ribeiro Paes, Chong Ae Kim, Regina Schultz
Journal: Autops Case Rep (2024)
Keywords: aneuploidy, autopsy, case reports, genetics, pathology
MeSH terms: Case Reports

Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.