OpenMed/multicare-articles huggingface dataset:
Phosphaturic mesenchymal tumor-induced bilateral osteomalacia femoral neck fractures: a case report
Authors: Yifan Zhang, Mingwei Hu, Cuicui Guo, Xue Yang, Shuai Xiang, Hao Xu
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: femoral neck fracture, hypophosphoruria, phosphaturic mesenchymal tumor, thoracic spine, total hip arthroplasty, tumor-induced osteomalacia
MeSH terms: Femoral Neck Fractures / complications, Femoral Neck Fractures / etiology, Femoral Neck Fractures / surgery, Neoplasms, Connective Tissue / diagnosis, Neoplasms, Connective Tissue / etiology, Neoplasms, Connective Tissue / surgery, Osteomalacia / etiology, Paraneoplastic Syndromes / etiology, Case Reports, Research Support, Non-U.S. Gov't, Arthroplasty, Replacement, Hip, Female, Humans, Hypophosphatemia / etiology, Middle Aged, Oncogenic osteomalacia

Phosphaturic mesenchymal tumors (PMT) are rare and distinctive tumors that typically result in paraneoplastic syndrome known as tumor-induced osteomalacia (TIO). We report a case of bilateral osteoporotic femoral neck fracture caused by PMT. PMT was surgically resected, followed by sequential treatment of bilateral femoral neck fractures with total hip arthroplasty (THA). A 49-year-old perimenopausal woman experienced consistent bone pain with limb weakness persisting for over 2 years. Initially, she was diagnosed with early osteonecrosis of the femoral head and received nonsurgical treatment. However, from 2020 to 2022, her pain extended to the bilateral shoulders and knees with increased intensity. She had no positive family history or any other genetic diseases, and her menstrual cycles were regular. Physical examination revealed tenderness at the midpoints of the bilateral groin and restricted bilateral hip range of motion, with grade 3/5 muscle strength in both lower extremities. Laboratory findings revealed moderate anemia (hemoglobin 66 g/L), leukopenia (2.70 × 109/L), neutropenia (1.28 × 109/L), hypophosphatemia (0.36 mmol/L), high alkaline phosphatase activity (308.00 U/L), and normal serum calcium (2.22 mmol/L). After surgery, additional examinations were performed to explore the cause of hypophosphatemic osteomalacia. After definitive diagnosis, the patient underwent tumor resection via T11 laminectomy on August 6, 2022. Six months after the second THA, the patient regained normal gait with satisfactory hip movement function without recurrence of PMT-associated osteomalacia or prosthesis loosening. By providing detailed clinical data and a diagnostic and treatment approach, we aimed to improve the clinical understanding of femoral neck fractures caused by TIO.
Case report: A rare case of bilateral Leber's idiopathic stellate neuroretinitis
Authors: Wei He, Panli Tang, Hongbin Lv, Lifeng Qiao
Journal: Front Med (Lausanne) (2024)
Keywords: leber’s idiopathic stellate neuroretinitis, diagnosis, fundus fluorescein angiography, glucocorticoid, neuroretinitis
MeSH terms: Case Reports

Background:
Leber's idiopathic stellate neuroretinitis (LISN) is a rare disease characterized by disk edema, peripapillary and macular hard exudates, and often, the presence of vitreous cells. To enhance clinical understanding of the disease, a retrospective analysis was conducted on a patient diagnosed with LISN at our hospital, and discussions were held regarding its diagnosis and treatment.
Methods:
We reviewed the medical records of a 26-year-old male patient whose main complaint was a decrease in visual acuity of both eyes for 4 days, which had worsened over the last day. After systemic examination, fundus fluorescein angiography, and indocyanine green angiography, the patient was diagnosed with LISN in both eyes. After treatment with glucocorticoids, the patient's vision showed a significant improvement.
Results:
Upon admission, the visual acuity of both eyes was: VOD 0.05, VOS 0.25. After 5 days of treatment, the visual acuity of both eyes was: VOD 0.25, VOS 0.4. After 1 month of follow-up, the visual acuity of both eyes was: VOD 0.4, VOS 0.6. After 5 months of follow-up, the patient's vision improved to VOD 0.6, VOS 0.8.
Conclusion:
The cause of LISN remains unidentified. It is essential to rule out diseases exhibiting similar clinical signs but possessing a clear etiology. The primary treatment approach involves glucocorticoid-based anti-inflammatory therapy, potentially supplemented with antibiotics, antivirals, vasodilators, and traditional Chinese medicine. This disease is usually self-limiting and generally carries a favorable prognosis.
Li-Fraumeni Syndrome With Six Primary Tumors-Case Report
Authors: Dejan Stojiljković, Ana Cvetković, Andrej Jokić, Dijana Mirčić, Sanja Mihajlović, Ana Krivokuća, Marija Đorđić Crnogorac, Lazar Glisic
Journal: Case Rep Oncol Med (2024)
Keywords: li-fraumeni, case report, mitotane, p53
MeSH terms: Case Reports

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient's treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.
Esthetic Crown Lengthening Associated With Modified Lip Repositioning Surgery (Modified LipStat) in the Treatment of Excessive Gingival Display: A 6-Year Follow-Up Case Report
Authors: Cesar Augusto Signori Arruda, Luciano Melo Pratto, Estevo D'Agostini Derech, Guenther Schuldt Filho
Journal: Case Rep Dent (2024)
Keywords: altered passive eruption, gingival aesthetics, gummy smile, lip repositioning surgery
MeSH terms: Case Reports

Smiling expresses emotions and affects interpersonal relationships, influencing self-esteem and social life. Nowadays, concerns about aesthetics and access to the Internet have made people more informed and demanding about treatments for gingival smile. Excessive gingival display (EGD) is caused by a variety of factors that can act alone or in combination. These factors may include altered passive eruption (APE), vertical maxillary excess, a short upper lip, and hyperactive upper lip, among other factors that cause gingival hyperplasia. In this case report, the EGD was caused by vertical maxillary excess, hypermobility of the upper lip, and APE. The proposed treatment included two procedures: the Modified Lip Repositioning Surgery (Modified LipStat) Technique, with internal sutures to attempt to restrict the traction of the upper lip elevator muscles, and Esthetic Crown Lengthening (ECL) from the right first premolar to the left first premolar for the treatment of APE. The result provided an aesthetic improvement of the smile, with harmonization in relation to the size of the teeth. The mobility of the upper lip in spontaneous smiles remained reduced up to 6 months of follow-up; however, there was a partial relapse in the position of the upper lip during spontaneous smiling at the end of 6 years of follow-up.
Pyoderma Gangrenosum: The Impact of Treatment Non-adherence on Disease Progression
Authors: Carmen Iliescu, Liliana Popa, Mara Mihai, Marius N Popescu, Cristina Beiu
Journal: Cureus (2024)
Keywords: chronic wounds, inflammatory skin disorders, neutrophilic dermatoses, non-healing ulcer, pyoderma gangrenosum
MeSH terms: Case Reports

Pyoderma gangrenosum (PG) is a rare, ulcerative, rapidly progressing, destructive, inflammatory cutaneous disease that is both diagnostically and therapeutically challenging. Due to the lack of standardized diagnostic criteria or conclusive guidelines for patient management, clinicians often find themselves without reliable tools for the daily management of PG patients. Additionally, the lack of strict therapeutic compliance in patients with this diagnosis might contribute to a catastrophic evolution of the condition. We report a case of ulcerative PG that is illustrative of the inherent challenges posed by patients frequently changing healthcare providers and treatment regimens, displaying inconsistency and non-adherence. Such behaviors can lead to the loss of disease control, particularly in the context of extensive or rapidly progressing PG, ultimately culminating in the development of mutilating forms of this disease.
Case Report: Kommerell's diverticulum and left aberrant subclavian artery stenosis hybrid treatment with branched aortic stent-graft
Authors: Álvaro Rodríguez-Pérez, Cristina Tello-Diaz, A Carolina Vergara-Budding, Constanza Fernández-Vinzenzi, Abdel Hakim Moustafa, Cesar Acebes Pinilla, Antonino Ginel-Iglesias, Antonio J Barros-Membrilla, Jaime Felix Dilme-Muñoz
Journal: Front Cardiovasc Med (2023)
Keywords: kommerell's diverticulum, aberrant subclavian artery, branched aortic stent-graft, hybrid endovascular treatment, right aortic arch, subclavian steal syndrome
MeSH terms: Case Reports

Kommerell's diverticulum in association with left or right aberrant subclavian arteries is a rare finding and is challenging to treat. Contemporary surgical and endovascular techniques provide a broad arsenal of possible treatments. Imaging techniques and modeling technology allow a more personalized strategy for each patient. In this case, we present a symptomatic patient with a Kommerell's diverticulum and a left aberrant subclavian artery complicated by proximal stenosis and poststenotic aneurysm. A hybrid technique using a single-branched thoracic stent-graft (Castor, MicroPort Medical, Shanghai, China) in combination with a surgical left subclavian-carotid bypass and endovascular occlusion of the poststenotic aneurysm using a vascular plug device (Amplatzer Vascular Plug, Abbott, Chicago, United States) was performed. This approach was planned and facilitated by the use of a 3D model. Alternative treatment options and the strengths of this approach are briefly reviewed and discussed.
Non-O1, Non-O139 Vibrio cholerae Bacteremia in an Autoimmune Pancreatitis Patient
Authors: Cheng-Jing Gu, Ming-Dong Ding, Da-Ming Zhou, Jie Li, Wen-Qing Yu, Yong-Lin Yang
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Over 200 different serogroups of Vibrio cholerae based on O-polysaccharide specificity have been described worldwide, including the two most important serogroups, O1 and O139. Non-O1/non-O139 V. cholerae serogroups generally do not produce the cholera-causing toxin but do sporadically cause gastroenteritis and extra-intestinal infections. Recently, however, bloodstream infections caused by non-O1/non-O139 V. cholerae are being increasingly reported, and these infections are associated with high mortality in immunocompromised hosts. We describe a case of non-O1/non-O139 V. cholerae bacteremia in a patient with autoimmune pancreatitis and stenosis of the intra- and extrahepatic bile ducts. The clinical manifestations of bacteremia were fever and mild digestive symptoms. The blood cultures showed V. cholerae, which was identified as a non-O1, non-O139 serogroup by slide agglutination tests and PCR. The bloodstream infection of the patient was likely caused by the consumption of contaminated seafood at a banquet. The patient recovered after the administration of a third-generation cephalosporin. Non-O1/non-O139 V. cholerae infection presents with or without gastrointestinal manifestations; close attention should be paid to the possibility of disseminated non-O1/non-O139 V. cholerae infection in high-risk patients.
Effects of COVID-19 Pandemic in Patients with a Previous Phrenic Nerve Transfer for a Traumatic Brachial Plexus Palsy
Authors: Mariano Socolovsky, Johnny Chuieng-Yi Lu, Francisco Zarra, Chen Kuan Wei, Tommy Nai-Jen Chang, David Chwei-Chin Chuang
Journal: J Brachial Plex Peripher Nerve Inj (2024)
Keywords: covid-19 acute infection, brachial plexus injury, phrenic nerve transfer, respiratory symptoms

Background With the advent of the coronavirus disease 2019 (COVID-19) pandemic, some doubts have been raised regarding the potential respiratory problems that patients who previously underwent a phrenic nerve transfer could have. Objectives To analyze the effects of the coronavirus infection on two populations, one from Argentina and another from Taiwan. Specific objectives were: (1) to identify the rate of COVID in patients with a history of phrenic nerve transfer for treatment of palsy; (2) to identify the overall symptom profile; (3) to compare Argentinian versus Taiwanese populations; and (4) to determine if any phrenic nerve transfer patients are at particular risk of more severe COVID. Methods A telephonic survey that included data regarding the number of episodes of acute COVID-19 infection, the symptoms it caused, the presence or absence of potential or life-threatening complications, and the status of COVID-19 vaccination were studied. Intergroup comparisons were conducted using the nonparametric Mann-Whitney U test, with categorical variables conducted using either the Pearson χ2 analysis or the Fisher's exact test, as appropriate. Results A total of 77 patients completed the survey, 40 from Taiwan and 37 from Argentina. Fifty-five (71.4%) developed a diagnosis of COVID. However, among these, only four had any level of dyspnea reported (4/55 = 7.3%), all mild. There were also no admissions to hospital or an intensive care unit, no intubations, and no deaths. All 55 patients isolated themselves at home. Conclusions It can be concluded that an acute COVID-19 infection was very well tolerated in our patients. (Level of evidence 3b, case reports).
Whole exome sequencing of human papillomavirus-related multiphenotypic sinonasal carcinoma: a case report
Authors: María Camila Cubides-Córdoba, Paula Sánchez-Fernández, Guillermo E Mendoza-Pacas, Virginia N Cabal, Rocío García-Marín, Sara Lucila Lorenzo-Guerra, Fabián García-Velasco, Mario A Hermsen, José Luis Llorente
Journal: Front Oncol (2024)
Keywords: hpv-related multiphenotypic carcinoma, basaloid tumor, case report, sinonasal cancer, whole exome sequencing
MeSH terms: Case Reports

Human Papillomavirus (HPV) related Multiphenotypic Sinonasal Carcinoma (HMSC) is a rare tumor with features of both atypical squamous cell and adenoid cystic carcinoma, making diagnosis challenging. Approximately 80% of HMSC cases carries HPV type 33 followed by type 35. We present a patient with HMSC. Pathological classification was aided by immunohistochemistry (IHC). The presence of HPV-DNA was tested using PCR and HPV E6/E7 expression by RNA in situ hybridization (RNA ISH). Whole exome sequencing (WES) was used to identify somatic gene mutations and copy number alterations. A 55-year-old male presented with an HMSC in the right nostril. Histological examination showed a solid basaloid subtype with mucinous spaces and ductal structures. IHC showed positive staining for SOX-10, SMA, p40, p63, PanCK, CK8 and MYB. Diffuse positive staining for p16 was observed and PCR and RNA ISH indicated the presence of HPV type 35. The patient was treated with endoscopic surgery and radiotherapy and is currently alive and recurrence-free after 16 months of follow-up. WES revealed 38 somatic sequence variants and several chromosomal regions with copy number alterations, including a copy number gain at 6q23 where MYB is located. EP300, ZNF22, ZNF609 and LRIG3 are some of the genes whose mutations were indicated as probably pathogenic. We did not find mutations predictive for drug response according to the ESMO Scale for Clinical Actionability of Molecular Targets database. This is the first report of WES analysis of an HMSC, in this case associated with HPV type 35. The detected mutation in EP300 and the overexpression of MYB may serve as molecular targets for personalized therapy.
A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant
Authors: Jamal Al Ali, Jessica Yang, Matthew S Phillips, Joseph Fink, James Mastrianni, Kaitlin Seibert
Journal: Front Neurol (2023)
Keywords: fahr’s disease, pdgfrb gene variant, missense variant, primary familial brain calcification (pfbc), tyrosine kinase
MeSH terms: Case Reports

Fahr's disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal calcification of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, and cognitive decline. Genes implicated in Fahr's disease include PDGFB, PDGFRB, SLC20A2, XPR1, MYORG, and JAM2. We present the case of a 51-year-old woman who developed subacute cognitive and behavioral changes primarily affecting frontal-subcortical pathways and parkinsonism in association with extensive bilateral calcifications within the basal ganglia, subcortical white matter, and cerebellum on neuroimaging. Relevant family history included a paternal aunt with parkinsonism at age 50. Normal parathyroid hormone and calcium levels in the patient's serum ruled out hypoparathyroidism or pseudohypoparathyroidism as causes for the intracranial calcifications. Genetic panel sequencing revealed a variant of unknown significance in the PDGFRB gene resulting in a p.Arg919Gln substitution in the tyrosine kinase domain of PDGFRB protein. To our knowledge this is the first report of a p.Arg919Gln variant in the PDGFRB gene associated with PFBC. Although co-segregation studies were not possible in this family, the location of the variant is within the tyrosine kinase domain of PDGFRB and pathogenicity calculators predict it is likely to be pathogenic. This report adds to the list of genetic variants that warrant functional analysis and could underlie the development of PFBC, which may help to further our understanding of its pathogenesis and the development of targeted therapies for this disorder.
Diagnostic Methods in Forensic Pathology: Autoptic Findings and Immunohistochemical Study in Cases of Sudden Death Due to a Colloid Cyst of the Third Ventricle
Authors: Angelo Montana, Francesco Paolo Busardò, Giovanni Tossetta, Gaia Goteri, Pasqualina Castaldo, Giuseppe Basile, Giulia Bambagiotti
Journal: Diagnostics (Basel) (2024)
Keywords: autopsy, colloid cyst, immunohistochemical investigations, neurogenic stunned myocardium (nsm), sudden death
MeSH terms: Case Reports

The colloid cyst is a non-malignant tumor growth made of a gelatinous material covered by a membrane of epithelial tissue. It is usually located posterior to the foramen of Monro, in the anterior aspect of the third ventricle of the brain. Due to its location, it can cause obstructive hydrocephalus, increased intracranial pressure, and sudden cardiac death, catecholamine-mediated, through hypothalamus compression. All the mechanisms are still controversial, but the role of catecholamine has been confirmed with histological findings that highlighted myocardial injury (coagulative myocytolysis and contraction band necrosis, CBN). This study presents a case of sudden death in a previously healthy 22-year-old male due to a colloid cyst of the third ventricle. A complete autopsy was performed, highlighting in the brain an abundant quantity of cerebrospinal fluid (CSF) and a 2 cm pale grayish-green rounded cyst formation partially filling and distending the third ventricle. The diagnosis was confirmed through immunohistochemical investigation: positivity for Periodic acid-Schiff (PAS) staining and CK7 expression. In cases such as the one reported here, a combined approach of autopsy, histology, and immunohistochemistry is mandatory in order to identify the neoformation's location and morpho-structural characteristics for a correct differential diagnosis, as well as to identify the cause of death.
Pernicious anemia presenting with dysphagia and melanoderma: a confusing manifestation
Authors: Salma Souissi, Myriam Ayari, Imen Abdellali, Rim Bourguiba, Syrine Belakhal, Taieb Jomni, Mohamed Hedi Doggui
Journal: Future Sci OA (2024)
Keywords: dysphagia, melanoderma, pernicious anemia
MeSH terms: Case Reports

Vitamin B12 deficiency is widely recognized as a common cause of anemia. However, symptoms such as dysphagia, melanoderma, and pancytopenia, although less frequent, can also be associated with this deficiency. We report the case of a 47-year-old Caucasian man presented with dysphagia to solids associated to high heart rate, dyspnea and melanoderma. He was diagnosed with severe anemia (hemoglobin 4 g/dl) in association with pancytopenia. Further investigation confirmed that the underlying cause was severe vitamin B12 deficiency secondary to pernicious anemia. Subsequent treatment with vitamin B12 supplements led to a significant improvement in all symptoms. A review of the existing literature corroborated the rarity of severe anemia occurring in conjunction with dysphagia and melanoderma due to B12 deficiency.
Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation
Authors: Wei Yuan, Yanbin Liu, Haibin Sun, Ming Su, Lizheng Qin, Xin Huang
Journal: Front Oncol (2024)
Keywords: cowden syndrome, pten mutation, clinical manifestations, genetic testing, oral lesions
MeSH terms: Case Reports

Background:
Cowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon.
Methods/results:
We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.
Conclusion:
There are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.