OpenMed/multicare-articles huggingface dataset:
Long term remission of metastatic placental site trophoblastic tumor (PSTT): Case report and review of literature
Authors: Nadereh Behtash, Fatemeh Ghaemmaghami, Malihe Hasanzadeh
Journal: World J Surg Oncol (2005)

BACKGROUND: Placental site trophoblastic tumor (PSTT) is a rare and unique form of gestational trophoblastic disease (GTD). This tumor represents a neoplastic transformation of intermediate trophoblastic cells. We document a case of long term remission in a patient with metastatic PSTT. CASE PRESENTAION: A 27-year-old patient with metastatic PSTT was treated with combination therapy (chemotherapy and surgery). Patient is alive after 10 years without any evidence of recurrence. Literature on PSTT was searched using Medline and cross references, and pertinent articles were reviewed. CONCLUSION: With surgery and chemotherapy it is possible to achieve long-term remission in metastatic PSTT. Only a handful of previously reported cases with prolonged remission had been treated with the described combined chemotherapy and surgical approach. We suggest that this approach may be recommended for metastatic PSTT.
A case of thyroid metastasis from pancreatic cancer: case report and literature review
Authors: Alessandro P Delitala, Gianpaolo Vidili, Alessandra Manca, Upinder Dial, Giuseppe Delitala, Giuseppe Fanciulli
Journal: BMC Endocr Disord (2014)

Background:
Thyroid metastases are clinically rare, and usually occur in patients with a history of prior malignancy and when there are metastases elsewhere. Metastases of pancreatic carcinoma to the thyroid are extremely rare, with only three cases reported in the literature.
Case presentation:
We report a patient who had a pancreatic carcinoma with metastasis to the thyroid as initial clinical presentation of the disease. A 63-year-old man with a history of weight loss and fatigue presented with cervical lymphadenopathies and a large nodule in the right lobe of the thyroid. A fine needle aspiration of the nodule gave inconclusive cytological results for the origin of the neoplastic cells. An ultrasound-guided core biopsy revealed the presence of a poorly differentiated adenocarcinoma infiltrating the thyroid with atrophic thyroid follicles. Immunohistochemical staining of the lesion was strongly positive for Cytokeratin 19 suggesting a pancreatic origin of the metastasis. A contrast CT scan demonstrated an enlargement of the pancreatic body, dilatation of the pancreatic duct, diffuse retroperitoneal, paraaortic and cervical lymphadenopathy and secondary lesions in the liver.
Conclusion:
Metastases to the thyroid from pancreatic carcinoma are extremely rare. A core biopsy of the lesion excluded a thyroid carcinoma and permitted the diagnosis of the primary neoplasm.
Recurrent aggressive fibromatosis of the chest wall
Authors: Riccardo Foà, Stefania Rizzo, Francesco Petrella, Federica De Maria, Massimo Bellomi
Journal: Ecancermedicalscience (2014)
Keywords: chest, recurrent fibromatosis, treatments
MeSH terms: Case Reports

A 57-year-old woman with a previous history of aesthetic surgery for breast reduction presented with a subcutaneous mass in the right axilla. A CT scan showed a solid mass on the chest wall, and she underwent surgical resection with a diagnosis of aggressive fibromatosis. After a 10-month period of follow-up, a local recurrence occurred, and in accordance with the up-to-date approach, the recurrence has been treated with a conservative approach (medical treatments) with good control of the symptoms and downsizing of the lesion.
Sore Throat, Fever, Septic Emboli, and Acute Respiratory Distress Syndrome: A Case of Lemierre Syndrome
Authors: Farrukh N Jafri, Jodi Shulman, José C Gómez-Márquez, Matthew Lazarus, David M Ginsburg
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Lemierre's syndrome is an acute oropharyngeal infection with a secondary septic thrombophlebitis of the internal jugular vein (IVJ) that was first reported in literature in 1936. It involves the progression of disease from a focal suppurative peritonsillar infection to a local septic thrombophlebitis with hematogenous progression to and distant septic emboli. It is a rare and potentially fatal syndrome requiring prompt diagnosis and management. We present the case progression of an 18-year-old male who presented to our hospital with resolved sore throat, fever, and chest discomfort who experienced a sharp clinical decline. His case, physical exam, laboratory abnormalities, and radiologic studies highlight important facets of this rare but important syndrome.
Hirschsprung's Associated Enterocolitis (HAEC) Personalized Treatment with Probiotics Based on Gene Sequencing Analysis of the Fecal Microbiome
Authors: Georg Singer, Karl Kashofer, Christoph Castellani, Holger Till
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Approximately 40% of children with Hirschsprung's disease (HD) suffer from Hirschsprung's associated enterocolitis (HAEC) despite correct surgery. Disturbances of the intestinal microbiome may play a role. Treatment with probiotics based on individual analyses of the fecal microbiome has not been published for HD patients with recurrent HAEC yet. A boy with trisomy 21 received transanal pull-through at the age of 6 months for rectosigmoid HD. With four years, he suffered from recurrent episodes of HAEC. The fecal microbiome was measured during three healthy and three HAEC episodes by next-generation sequencing. The patient was started on daily probiotics for 3 months; the fecal microbiome was measured weekly. The fecal microbiome differed significantly between healthy and HAEC episodes. HAEC episodes were associated with significant decreases of Actinobacteria and significant increases of Bacteroidetes and Proteobacteria. Probiotic treatment led to a significant increase of alpha diversity and a significant increase of Bifidobacterium and Streptococcus as well as decreases of Rikenellaceae, Pseudobutyrivibrio, Blautia, and Lachnospiraceae. A longitudinal observation of the microbiome has never been performed following correction of Hirschsprung's disease. Probiotic treatment significantly changed the fecal microbiome; the alterations were not limited to strains contained in the administered probiotics.
Therapeutic Effect of Anti-VEGF for Age-Related Macular Degeneration in the Untreated Fellow Eye
Authors: Hacer Isildak, Stephen G Schwartz, Harry W Flynn Jr
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Intravitreal injections of antivascular endothelial growth factor (anti-VEGF) agents have been reported to occasionally produce a therapeutic effect in the uninjected fellow eye. Here, three patients with bilateral neovascular age-related macular degeneration are presented. In all three patients, unilateral anti-VEGF injection resulted in bilateral reduction of macular thickness as measured by spectral domain optical coherence tomography.
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report
Authors: James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
Journal: Fam Cancer (2017)
Keywords: birt–hogg–dubé syndrome, cerebral cavernous malformation, double heterozygote, genetics
MeSH terms: Birt-Hogg-Dube Syndrome / genetics, Carrier Proteins / genetics, Hemangioma, Cavernous, Central Nervous System / genetics, Proto-Oncogene Proteins / genetics, Tumor Suppressor Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Birt-Hogg-Dube Syndrome / diagnosis, Female, Humans, Middle Aged, Mutation, CCM2 protein, human, Carrier Proteins, FLCN protein, human, Proto-Oncogene Proteins, Tumor Suppressor Proteins, Familial cerebral cavernous malformation

When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Intracranial vascular pathologies (but not cerebral cavernous malformation) have recently been described in a number of individuals with BHD (Kapoor et al. in Fam Cancer 14:595-597, 10.1007/s10689-015-9807-y , 2015) but it is not yet clear whether they represent a genuine part of that conditions' phenotypic spectrum. We suggest that in such instances of potentially novel clinical features, more extensive genetic testing to consider co-existing conditions should be considered where available. The increased use of next generation sequencing applications in diagnostic settings is likely to lead more cases such as this being revealed.
Endovascular treatment of thoracic aortic floating thrombus in patients presenting with acute lower limb ischemia
Authors: Nano Giovanni, Mazzaccaro Daniela, Malacrida Giovanni, Occhiuto Maria Teresa, Stegher Silvia, Foresti Davide, Tealdi Domenico Giuseppe
Journal: Int J Vasc Med (2011)
MeSH terms: Case Reports

We report two cases of descending thoracic aorta floating thrombus treated with Bolton Relay thoracic free-flow stent graft. The patients had symptoms of lower limb ischemia; they underwent preoperative angiography and CTscan, then we proceeded with endovascular exclusion of the thrombus from the systemic circulation. At 12 months, the graft was still patent in both patients, without any signs of endoleak.
Utilization of Intraoperative TEE to Assess Supraventricular Tachycardia-Inducing Right-Sided Cardiac Compression by the Liver, Post-Liver-Transplantation Status
Authors: W David Stoll, William R Hand, Vinayak S Rohan, Parker M Gaddy, Scott T Reeves, Kenneth D Chavin
Journal: Case Rep Transplant (2015)

This unique and interesting case report involves a patient who recently underwent a combined liver and kidney transplant (due to autosomal dominant polycystic kidney disease) and subsequently suffered from episodes of supraventricular tachycardia (SVT) secondary to the new liver graft compressing the right atrium and ventricle. After this was diagnosed, the patient underwent operative plication of the right hemidiaphragm. Intraoperative transesophageal echocardiography was used to demonstrate cardiac compression from the liver and demonstrate resolution of compression after plication of the hemidiaphragm.
Coexistence of contralateral cluster headache and probable paroxysmal hemicrania: a case report
Authors: Pauri Flavia, Lepre Chiara
Journal: Springerplus (2016)
Keywords: cluster headache, hypothalamus, paroxysmal hemicrania

Introduction:
The trigeminal autonomic cephalagias (TACs) are short-lasting unilateral headaches associated with autonomic features. Even if coexistence of different ipsilateral TACs in the same patient has been previously reported in few papers, the simultaneous occurrence of contralateral TACs is not described previously.
Case description:
A 50 years old working man complained, at the end of his cluster period, a new TAC, fitting the criteria for probable paroxysmal hemicrania. The dramatic improvement of this last cephalalgia with indomethacin treatment confirmed the diagnosis.
Discussion evaluation and conclusion:
There is a clear overlap in clinical diagnosis between cluster headache (CH) and paroxysmal hemicrania (PH) and similarities are somewhat greater than differences. The originality of this report is the coexistence of contralateral TACs in the same patients at the same moment. According neuroimaging studies, CH hypothalamic activation occurs ipsilateral to the side of the headache while in PH hypothalamic activation occurs contralateral to the side of headache. It could be suggested that a continuous hypothalamic activation give a maladaptive plasticity recruiting closed neuronal aggregates responsible for the developing of PH after a long period of CH, confirming the central origin of both CH and PH. Further studies need to confirm this hypothesis.
Post-orchidectomy retroperitoneal seminoma: A case report
Authors: Piero Caglià, Angelo Tracia, Rosita A Condorelli, Aldo E Calogero, Enzo Vicari, Massimiliano Veroux, Corrado Amodeo, Ylenia Duca, Luciano Tracia, Antonino F Arcoria, Chiara Nicoletti, Laura Mongioì, Sandro LA Vignera
Journal: Oncol Lett (2013)
Keywords: late relapse, orchidectomy, retroperitoneal seminoma

Between 2 and 5% of malignant germ cell tumors in males arise at extragonadal sites. The origin of extragonadal retroperitoneal germ cell tumors remains controversial. Whether these develop primarily in the retroperitoneum or are metastases of a primary testicular tumor has long been debated. We report a 38-year-old male who presented with abdominal pain and was diagnosed with retroperitoneal seminoma. The patient gave a history of having undergone a right orchidectomy for an undescended testis via the inguinal route 10 years previously with a reported histology of benign inflammatory mass.
ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases
Authors: Xiaoyan Wang, Haiying Wu, Hui Sun, Lili Wang, Linqi Chen
Journal: Front Pediatr (2022)
Keywords: arid2, coffin-siris syndrome, swi/snf (baf) complex, exome sequenci, short stature
MeSH terms: Case Reports

Background:
Coffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo/aplastic digital nails and phalanges. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, and ARID1A) have been shown to cause CSS. People diagnosed with BAF pathway related diseases are increasing, and ARID2 (NM_152641.4) is the least common of these genes. Mutations in the ARID2 gene is the cause for Coffin-Siris syndrome 6 (CSS6). By now only 16 individuals with CSS have been reported to have pathogenic variants in ARID2.
Case presentation:
In this article, we introduced two individuals with clinical features consistent with CSS6 (Coffin-Siris syndrome 6). This article increases the number of reported cases, provides better phenotypic information for this rare syndrome, and allows everyone to better understand the disease.
Conclusion:
Our observations indicate that ARID2 mutations could have variable phenotypes, even in patients from the same family.
Four-Chamber Intracardiac Thrombi Complicating Wild-Type TTR Amyloidosis
Authors: Jan M Griffin, Daniel P Judge, Kenton J Zehr, Jose Madrazo, Rosanne Rouf
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Cardiac amyloidosis is a rare disease, and its prevalence varies depending on the type of amyloid protein involved. Several case reports make reference to the increased risk of thrombosis and thromboembolic events in cardiac amyloidosis. We report a case of rapidly evolving, multichamber thrombi in a patient who was ultimately diagnosed with wild-type TTR cardiac amyloidosis.