OpenMed/multicare-articles huggingface dataset:
Association of Central Precocious Puberty with a Rare Presentation of Schimmelpenning-Feuerstein-Mims Syndrome in a Peruvian Girl
Authors: Miguel Angel De Los Santos-La Torre, Carlos Manuel Del Águila-Villar, Luis Rómulo Lu-de Lama, Oswaldo Nuñez-Almache, Eliana Manuela Chávez-Tejada, Oscar Antonio Espinoza-Robles, Paola Marianella Pinto-Ibárcena, Martha Rosario Calagua-Quispe
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Schimmelpenning-Feuerstein-Mims syndrome (SFM), an epidermal nevus syndrome characterized by skin lesions, has an estimated incidence of 1 per 10 000 live births. Nevus sebaceous, the most common cutaneous lesion, and verrucous nevus, the less frequent lesion, are coupled with a wide range of extracutaneous manifestations. As part of these manifestations, rarely, central precocious puberty can arise. We report the case of a 1-year-5-month-old girl who presented to the Endocrinology and Metabolism Department with breast enlargement that began at one year of age, growth of pubic and axillary hair three months later, and vaginal bleeding that occurred five months later. During clinical examination, melanocytic nevi, with a diameter ranging from 3 to 5 mm, were noted on the face. Verrucous nevi of variable size with a tendency for coalescence following the lines of Blaschko and melanocytic nevi with a diameter ranging from 3 to 6 mm were observed on the right hemibody and on the left hemibody, respectively. Right asymmetry of the lower extremities was observed. Laboratory findings showed a significant increase in the levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) after the gonadotropin-releasing hormone (GnRH) stimulation test; additionally, imaging demonstrated advanced bone age and pubertal changes in the internal genitals. Analyses of the H-RAS, K-RAS, and N-RAS genes in the blood and in the skin were performed, and a missense mutation in exon 2 of the gene, H-RAS c37G > C (p.G13R), was detected in the latter. Treatment with triptorelin, a GnRH analog, was initiated, and it gave good clinical response. Epidermal nevus syndrome has a wide and variable systemic involvement. Thus, it is important to consider the development of precocious puberty for a prompt diagnosis and to strategize a multidisciplinary approach from the beginning.
Fatal native aortic valve fungal endocarditis caused by Aspergillus flavus: A case report
Authors: Abdulrahman F Al-Mashdali, Mohammed A Alamin, Ammar M Kanaan, Abdulaziz Alkhulaifi, Dawoud I Al Kindi
Journal: IDCases (2021)
Keywords: aspergillus flavus, case report, diabetes mellitus, endocarditis, fungal
MeSH terms: Case Reports

Fungal endocarditis is a rare condition, specifically in immunocompetent patients. Aspergillus species are the etiology in less than 30% of the cases. Moreover, Aspergillus flavus endocarditis is extremely rare and reported in only 7% of the total Aspergillus endocarditis cases. The most common predisposing factors are immunocompromised state, prosthetic valve, and previous cardiac surgery. In most cases, the diagnosis is delayed and occasionally missed. Prompt medical management combined with early surgical intervention is recommended once the diagnosis is established since the mortality rate is nearly 100% without surgical intervention. We report a rare and fatal case of native aortic valve endocarditis in a 49 years old diabetic patient who presented with fever and abdominal pain, complicated by multiple septic embolizations (splenic infarction, cerebral emboli, and limbs ischemia), and in which A. flavus was confirmed post mortem.
Parathyroid carcinoma presenting with chronic renal failure and single pulmonary metastasis: A case report
Authors: Lucia Stella Curto, Rita Gervasi, Francesca Caracciolo, Nadia Innaro
Journal: Int J Surg Case Rep (2019)
Keywords: chronic renal failure, hypercalcemia, parathyroid carcinoma, pulmonary metastasis

Introduction:
Parathyroid carcinoma is a rare malignancy. Our case report is unusual for its presentation. The patient referred symptoms compatible with CRF; nodular lesions to parathyroid glands and an elevated PTH induced physician to hypothesize secondary hyperparathyroidism. The presence of haemoptysis gave us suspicion for malignant neoplasm but only histological examination allowed us to recognize the nature of the lesion, because even PET-CT didn't detect, an hypercaptation in the parathyroids.
Presentation of the case:
The case concerns a 59 years old female with the following symptoms: asthenia, oliguresis, nausea, haemoptysis and very high levels of calcium and PTH. Laboratory findings (PTH 570 pg/ml; Ca 12.20 mg/dl; P 1.8 mg/dl), ultrasound, CT scan and parathyroid scintigraphy, associated with clinical data, indicated a parathyroid carcinoma with single pulmonary metastasis of the upper lobe of the left lung, confirmed by histological examination and immunochemistry. Cytology performed with bronchoscopy was negative. Surgery ("en bloc" parathyroidectomy on adjacent structures, lymph node dissection near recurrent nerve and atypical lung resection) was effective, with normalization of calcium and PTH levels and disappearance of symptoms after 48 h. After six months, no signs of local recurrence or metastases were observed.
Discussion:
No clinical or bio-humoral data allows a preoperative diagnosis of parathyroid carcinoma. Only with definitive pathology and immunochemistry it is possible to differentiate an adenoma from a carcinoma.
Conclusion:
In patients with CRF it's difficult to diagnose parathyroid carcinoma, because its presentation mimics the most common secondary hyperparathyroidism; the concomitant presence of metastases should lead us to suspect malignant parathyroid lesions. Surgery is the only effective therapy and therefore should be always performed.
Severe Aplastic Anemia Developed after Thymectomy: A Case Report and Literature Review
Authors: Bruna Cristine Duarte Rodrigues, Pedro José Galvão Freire, Beatriz Pinto E Siqueira Campos, Juliana Oliveira Vieira, Pedro Alves da Cruz Gouveia
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Thymus neoplasms are frequently related to paraneoplastic autoimmune manifestations. Its most common associations are myasthenia gravis and pure red cell aplasia. Aplastic anemia has been increasingly documented as an initial presentation of thymoma. Nevertheless, its development after successful surgical resection of thymoma is a rare condition. We report a case of a 53-year-old man with severe aplastic anemia preceded by amegakaryocytic thrombocytopenia three years after thymectomy with no signs of disease recurrence. He underwent immunosuppressive therapy with cyclosporine 5 mg/kg/day and prednisone 2 mg/kg/day for six weeks. Considering the availability of a compatible donor, allogeneic stem cell transplantation was carried out. However, the patient died 11 days after transplant. A literature review was conducted, and another ten cases of aplastic anemia, diagnosed three months to four years after thymectomy, were identified. These cases suggest persistence of peripheral self-reactive T lymphocytes even years after tumor definitive treatment.
Case Report: An occurrence of steinstrasse in retrograde intra renal surgery (RIRS) for large staghorn kidney stone: a difficult experience in managing surgical outcomes
Authors: Ponco Birowo, Nur Rasyid, Widi Atmoko, Bobby Sutojo
Journal: F1000Res (2020)
Keywords: complication, retrograde intrarenal surgery, staghorn stones, steinstrasse
MeSH terms: Kidney / surgery, Kidney Calculi / etiology, Kidney Calculi / surgery, Nephrostomy, Percutaneous, Case Reports, Aged, Humans, Male, Treatment Outcome

Immediate removal of staghorn kidney stones is important to prevent life-threatening complications. With the advancement of endoscopic technology, retrograde intrarenal surgery (RIRS) is now an alternate treatment to the standard percutaneous nephrolithotomy (PCNL) for stones removal. However, when used to treat large stones (>3cm), RIRS can cause the formation steinstrasse (SS). Here, we present the case of a 68-year-old man with multiple stones in the collecting system of the right kidney after initial treatment with RIRS. After two years of multiple interventions, the SS was completely removed. To prevent this complication in patients, a detailed assessment of the stone (size, location) and renal anatomy should be completed before RIRS is performed.
Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case
Authors: Carolina Cortez-Ortega, José Arturo Garrocho-Rangel, Joselín Flores-Velázquez, Socorro Ruiz-Rodríguez, Miguel Ángel Noyola-Frías, Miguel Ángel Santos-Díaz, Amaury Pozos-Guillén
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate.
Prolonged viral shedding and new mutations of COVID-19 could complicate the control of the pandemic
Authors: Chieh-Fan Chen, Tung-Yuan Tsai, Chen-Hui Yu, Hsiang-Lan Cheng, Ting-Yu Yeh
Journal: Access Microbiol (2020)
Keywords: covid-19, rna-dependent rna polymerase, sars-cov-2, coronavirus, transmission dynamics
MeSH terms: Case Reports

The studies of coronavirus disease 2019 (COVID-19) have mainly focused on epidemiological and clinical features of patients, but transmission dynamics of SARS-CoV-2 virus after patients have recovered is still poorly understood. Here we report a case with prolonged viral shedding of COVID-19 in Kaohsiung, Taiwan. This patient started to show myalgia and malaise in Wuhan, and the onset of the fever was on days 7-14 of the illness. All clinical and radiological results returned to normal after day 26, however, viral shedding was still evident 14 days later. Sequence analysis of the genome of the Taiwanese SARS-CoV-2 isolate from this patient reveals new mutations in viral replicase and ORF3a, indicating that COVID-19 evolves very quickly. Prolonged viral shedding and new mutations in the viral genome could potentially complicate the control of the COVID-19 pandemic.
Primary diffuse large B cell lymphoma arising from a leiomyoma of the uterine corpus
Authors: Lianhua Zhao, Qiang Ma, Qiushi Wang, Ying Zeng, Qingya Luo, Hualiang Xiao
Journal: Diagn Pathol (2016)
MeSH terms: Leiomyoma / pathology, Lymphoma, Large B-Cell, Diffuse / pathology, Neoplasms, Multiple Primary / pathology, Uterine Neoplasms / pathology, Case Reports, Aged, Biomarkers, Tumor / analysis, Biomarkers, Tumor / genetics, Biopsy, Female, Gene Rearrangement, B-Lymphocyte, Humans, Immunohistochemistry, Leiomyoma / chemistry, Leiomyoma / genetics, Leiomyoma / surgery, Lymphoma, Large B-Cell, Diffuse / chemistry, Lymphoma, Large B-Cell, Diffuse / genetics, Lymphoma, Large B-Cell, Diffuse / surgery, Neoplasm Staging, Neoplasms, Multiple Primary / chemistry, Neoplasms, Multiple Primary / genetics, Neoplasms, Multiple Primary / surgery, Predictive Value of Tests, Tumor Burden, Uterine Neoplasms / chemistry, Uterine Neoplasms / genetics, Uterine Neoplasms / surgery, Biomarkers, Tumor

Background:
Primary diffuse large B cell lymphoma (DLBCL) of the uterus is rare, and primary DLBCL arising from a uterine leiomyoma (collision tumor) has not been reported in the literature.
Case presentation:
We describe the clinical, histological, immunohistochemical, and molecular features of primary DLBCL arising from a leiomyoma in the uterine corpus. A 73-year-old female patient had a uterine mass for 23 years. An ultrasound scan revealed marked enlargement of the uterus, measuring 18.2 × 13 × 16.3 cm, with a 17.6 × 10.9 × 11.6 cm hypoechoic mass in the uterine corpus. The tumors consisted of medium- to large-sized cells exhibiting a diffuse pattern of growth with a well-circumscribed leiomyoma. The neoplastic cells strongly expressed CD79α, CD20 and PAX5. Molecular analyses indicated clonal B-cell receptor gene rearrangement.
Conclusions:
To the best of our knowledge, no previous cases of primary DLBCL arising from a leiomyoma have been reported. It is necessary to differentiate a diagnosis of primary DLBCL arising from a leiomyoma from that of leiomyoma with florid reactive lymphocytic infiltration (lymphoma-like lesion). Careful analysis of clinical, histological, immunophenotypic, and genetic features is required to establish the correct diagnosis.
Case Report: Anlotinib Therapy in a Patient With Recurrent and Metastatic RAIR-DTC Harboring Coexistent TERT Promoter and BRAFV600E Mutations
Authors: Yanjun Su, Shaohao Cheng, Jun Qian, Min Zhang, Tuanli Li, Ying Zhang, Chang Diao, Ling Zhang, Ruochuan Cheng
Journal: Front Oncol (2021)
Keywords: brafv600e, tert, anlotinib, differentiated thyroid carcinoma, therapy
MeSH terms: Case Reports

We describe a case of recurrent and metastatic radioactive iodine-refractory differentiated thyroid cancer (RAIR-DTC) treated with anlotinib in this report. The patient was randomized to placebo initially, after disease progressed at C8 (C is the treatment cycle), the patient was referred to the open label therapy of anlotinib, 12 mg p.o. daily with a 2-week on/1-week off regimen. Partial response was achieved at C2 with anlotinib treatment. To date, over 37 months of progression-free survival (PFS) has been achieved. Adverse effects were tolerable and manageable in this patient. Molecular characterization revealed coexistent C228T mutation of TERT promoter and BRAFV600E mutations. Favorable clinical outcome in this patient suggests that anlotinib might provide a novel effective therapeutic option for patients with RAIR-DTC. TERT and BRAFV600E mutations may represent as biomarker for predicting salutary effects of anlotinib.
Massive gallstone in an asymptomatic Indigenous Canadian male: Case report and literature review
Authors: Angela W Chan, Rathi M Sabaratnam, Yagan Pillay
Journal: Int J Surg Case Rep (2020)
Keywords: biliary disease, case report, cholelithiasis, gallbladder carcinoma, prophylactic cholecystectomy
MeSH terms: Case Reports

Introduction:
Gallstones are present in 10-15% of North Americans, but only 20% become symptomatic. This case report describes a patient with a 7.5 cm gallstone detected incidentally while being investigated for cardiac pathology. This is the first report in the English literature of a stone this size that has remained clinically asymptomatic. This work is reported in line with the SCARE criteria.
Case report:
The patient was a 71-year-old Indigenous Canadian male, with atrial fibrillation. His cardiologist ordered a CT scan of his chest, which incidentally identified a large gallstone. He was referred to surgery for asymptomatic cholelithiasis. An uncomplicated laparoscopic cholecystectomy was performed. Final pathology showed a 7.5 cm gallstone with features of chronic cholecystitis.
Discussion:
The patient's ethnicity and gallstone size placed him at increased risk for gallbladder cancer, gallstone fistulization and perforation. We reviewed the literature for asymptomatic patients who may benefit from cholecystectomy: transplant recipients and those with hemolytic disorders. Laparoscopic cholecystectomy is not currently indicated in diabetics and bariatric surgery patients.
Conclusion:
This case report shows that there are asymptomatic patients with massive gallstones. A review of their history, risk factors for malignancy and future gallstone related complications must be carefully weighed and discussed prior to deciding on surgical versus expectant management.
Appendiceal mucocele-A rare case report
Authors: Sunil Kumar B B, Pranav Jasuja
Journal: Int J Surg Case Rep (2019)
Keywords: appendix, case report, hemicolectomy, mucinous cystadenoma, mucocele

Introduction:
Appendiceal mucocele is a rare disease and has a clinical picture that resembles acute appendicitis. A correct diagnosis before surgery is very important for the selection of surgical technique(appendicectomy/colectomy)to avoid severe intraoperative and postoperative complications. The work has been reported in line with the SCARE criteria (Agha et al. [23]).
Presentation of case:
We present a case of 70 year old female admitted with chief complaints of right iliac fossa pain intermittent in nature with nausea and generalized weakness since 1 month. With the help of USG and CECT preoperative diagnosis of Appendiceal Mucocele was made. Midline incision Laparotomy was performed. Preoperative diagnosis of Appendix Mucocele changing the course of management has been reported rarely in literature.
Discussion:
Intraoperatively a cystic mass of appendix with dimensions 8 cm × 5 cm with broad base and inflamed walls communicating with caecum but without perforation was discovered in right iliac fossa. Extended right hemicolectomy with ileotransverse anastomosis was done. Histopathological diagnosis of Mucinous Cystadenoma with Mucocele was reported. After 6 months of surgery patient is doing well with no postoperative complications.
Conclusion:
In our opinion every patient more than 50 years old presenting in emergency department with clinical symptoms of acute appendicitis must undergo CT and open surgery should be favoured against laparoscopic surgery.
Clinical and Radiological Follow-Up of a Pfizer-BioNTech COVID-19 Vaccine-Induced Hemichorea-Hemiballismus; Insights Into Mechanisms of Basal Ganglia Dysfunction
Authors: Molly Cincotta, Ruth H Walker
Journal: Tremor Other Hyperkinet Mov (N Y) (2022)
Keywords: covid-19, chorea, hemiballismus, hemichorea, vaccination
MeSH terms: COVID-19 / complications, Chorea / chemically induced, Chorea / diagnostic imaging, Dyskinesias / diagnostic imaging, Dyskinesias / etiology, Case Reports, Editorial, Comment, Aged, 80 and over, BNT162 Vaccine, Corpus Striatum, Follow-Up Studies, Humans, BNT162 Vaccine

Asymmetric chorea unrelated to structural lesions is typically due to systemic etiologies, such as metabolic, autoimmune, or other inflammatory disorders. This is an editorial commenting on a paper by Batot C, Chea M, Zeidan S, et al. Clinical and radiological follow up of Pfizer-BioNTech COVID-19 vaccine-induced hemichorea-hemiballismus. Tremor and Other Hyperkinetic Movements; 2022; 12(1). DOI: https://doi.org/10.5334/tohm.688. A 90-year-old patient is reported who developed hemichorea shortly after his second vaccination against COVID-19. Hypometabolism was noted in the contralateral striatum. This case provides potential insights and raises questions about mechanisms of immune-mediated hemichorea.
Airway autoimmune responses in severe eosinophilic asthma following low-dose Mepolizumab therapy
Authors: Manali Mukherjee, Hui Fang Lim, Sruthi Thomas, Douglas Miller, Melanie Kjarsgaard, Bruce Tan, Roma Sehmi, Nader Khalidi, Parameswaran Nair
Journal: Allergy Asthma Clin Immunol (2017)
Keywords: autoantibodies, autoimmune, eosinophilic asthma, il-5, immune complex, mepolizumab, sputum
MeSH terms: Case Reports

Background:
Anti-interleukin (IL)-5 monoclonal antibodies as an eosinophil-depleting strategy is well established, with Mepolizumab being the first biologic approved as an adjunct treatment for severe eosinophilic asthma.
Case presentation:
A 62-year old woman diagnosed with severe eosinophilic asthma showed poor response to Mepolizumab therapy (100 mg subcutaneous dose/monthly) and subsequent worsening of symptoms. The treatment response to Mepolizumab was monitored using both blood and sputum eosinophil counts. The latter was superior in assessing deterioration in symptoms, suggesting that normal blood eosinophil count may not always indicate amelioration or adequate control of the ongoing eosinophil-driven disease process. This perplexing situation of persistent airway eosinophilia and increased steroid insensitivity despite an anti-eosinophil therapy can be explained if the administered dose of the mAb was inadequate in comparison to the target antigen. The resultant immune complexes could act as 'cytokine depots', protecting the potency of the 'bound' IL-5, thereby sustaining the eosinophilic inflammation within the target tissue. Molecular analysis of the sputum indicated the development of a polyclonal autoimmune response as well as an increase in group 2 innate lymphoid cells, two novel observations in severe eosinophilic asthma, which were associated with indices of disease severity and progression. This case highlights the possibility of a previously unrecognised autoimmune-mediated worsening of asthma perhaps triggered by immune complexes formed due to inadequate dosing of administered monoclonal antibodies in the target tissue.
Conclusions:
While anti-IL5 mAb therapy is an exciting novel option to treat patients with severe asthma, there is the rare possibility of worsening of asthma as observed in this case study, due to local autoimmune mechanisms precipitated by potential inadequate airway levels of the monoclonal antibody.
Osteoid Osteoma: A Unique Presentation in a Child's Lesser Toe
Authors: Michel Bellemans, Nicolas de Saint-Aubin de Somerhausen, Phu Quoc Lê
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Introduction:
Osteoid osteoma is an uncommon, small, benign, self-limiting, and usually painful tumor of the skeleton. Diagnosis can be straightforward if seen in the usual locations as the femur and the tibia in young adults, who present with nocturnal pain, alleviated by salicylates. The diagnosis can be more challenging in the spine, pelvis, hand, or feet. Case Report. We report the case of an 11-year-old boy who was treated symptomatically for a painful toe since 10 months, without a definitive diagnosis. X-ray, MRI, and scintigraphy, along with the typical nocturnal pain and swelling of the toe, suggested an osteoid osteoma, confirmed by histology after excisional biopsy of the lesion.
Conclusion:
Osteoid osteoma should always be included in the differential diagnosis when it comes to nocturnal pain without systemic signs, even in unusual places in children. The awareness should lead to a prompt diagnosis and treatment.
A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia
Authors: Sophia Tahir, Lieve Gj Leijssen, Maha Sherif, Carla Pereira, Anabela Morais, Khalid Hussain
Journal: Int J Pediatr Endocrinol (2015)
Keywords: diabetes mellitus, megaloblastic anaemia, slc19a2 mutation, sensorineural deafness, trma
MeSH terms: Case Reports

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient's diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement. The report further indicates that TRMA is not only limited to consanguineous or ethnically isolated families, and should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms.