OpenMed/multicare-articles huggingface dataset:
An Unusual Case of Pinna Squamous Cell Carcinoma Arising Shortly after Resection of Atypical Fibroxanthoma
Authors: Eugene Omakobia, Ahmad Orabi, Richard Knights
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Objective:
To report a unique case of pinna squamous cell carcinoma (SCC) arising shortly after resection of atypical fibroxanthoma (AFX) at the same site.
Case report:
An 81-year-old gentleman presented with a nodular right pinna lesion. This was excised, and histology confirmed AFX. Ten weeks later, an ulcerative lesion appeared at the resection site. This was confirmed to be SCC. Comparative analysis revealed no morphological resemblance between the initial AFX and new SCC lesion, and there was no evidence of initial misdiagnosis.
Conclusion:
SCC is the most common cancer involving the pinna. Whilst prolonged sun exposure is an important risk factor for SCC, chronic inflammation and wounds are other potential sources. We postulate whether SCC could have arisen from the previous scar tissue in a manner similar to Marjolin's ulcer. This would be a highly unusual finding in the pinna and to our knowledge unprecedented in the English literature.
Hemophagocytic lymphohistiocytosis in gastric cancer: A rare syndrome for the oncologist. Case report and brief review
Authors: Manlio Monti, Giovanni Marconi, Andrea Ambrosini-Spaltro, Chiara Gallio, Virginia Ghini, Luca Esposito, Stefano Antonini, Daniela Montanari, Giovanni Luca Frassineti
Journal: Front Oncol (2023)
Keywords: case report, disseminated intravascular coagulation, gastric cancer, hemophagocytic lymphohistiocytosis, secondary hemophagocytic lymphohistiocytosis
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by uncontrolled activation of the immune system. HLH is a reactive mononuclear phagocytic response that occurs in association with a constellation of conditions such as malignancies and infections. The clinical diagnosis of HLH remains challenging because HLH can present with symptoms that significantly overlap with other causes of cytopenia, such as sepsis, autoimmune diseases, hematological cancers, and multiorgan failure. A 50-year-old man went to the emergency room (ER) for hyperchromic urine, melena, gingivorrhagia, and spontaneous abdominal wall hematomas. The first blood tests showed severe thrombocytopenia, alteration of the INR, and consumption of fibrinogen, and therefore, a diagnosis of disseminated intravascular coagulation (DIC) was made. A bone marrow aspirate showed numerous images of hemophagocytosis. With the suspicion of immune-mediated cytopenia, oral etoposide, intravenous immunoglobulin, and intravenous methylprednisolone were administered. Then, a diagnosis of gastric carcinoma was performed with a lymph node biopsy and gastroscopy. On the 30th day, the patient was transferred to the oncology ward of another hospital. On admission, he had serious piastrinopenia, anemia, hypertriglyceridemia, and hyperferritinemia. He was supported with a platelet transfusion and underwent a bone biopsy that showed a picture compatible with myelophthisis from diffuse medullary localization of a carcinoma of gastric origin. A diagnosis of HLH secondary to solid neoplasm was formulated. The patient started chemotherapy with oxaliplatin, calcium levofolinate, 5-fluorouracil bolus, 5-fluorouracil for 48 h (mFOLFOX6), and methylprednisolone. Six days after the third cycle of mFOLFOX6, the patient was discharged with the stabilization of his piastrinopenia condition. The patient continued chemotherapy with an improvement in his clinical conditions and normalization of hematological values. After 12 cycles of mFOLFOX, it was decided to start maintenance chemotherapy with capecitabine but, unfortunately, after only one cycle, HLH reappeared. The oncologist has to keep in mind the existence of HLH when there is an unusual clinical presentation of cancer, such as cytopenia affecting ≥2 lineages and alterations of ferritin and triglycerides other than fibrinogen and coagulation. Increased attention and additional research as well as a close collaboration with hematologists are needed to benefit patients with solid tumors complicated by HLH.
Total gastrectomy in systemic scleroderma when anti-reflux surgery is not viable: A case report
Authors: Carlos Jose Perez Rivera, Akram Kadamani Abiyomaa, Alejandro González-Orozco, Maria Antonia Ocampo, Isabella Caicedo, Manuel Santiago Mosquera
Journal: Int J Surg Case Rep (2019)
Keywords: gastrectomy roux-en-y, gastroesophageal reflux disease, pulmonary transplantation, scleroderma

Introduction:
Systemic scleroderma is an autoimmune disease that can affect the respiratory system and the gastrointestinal tract. When diffuse lung disease and pulmonary hypertension develop, a lung transplant is usually considered as treatment. This option, however, is not feasible in the presence of concomitant gastroesophageal reflux disease. In this case, medical therapy is initially warranted. If this fails, surgical approach may be considered in order for the patient to be a lung transplant candidate.
Case presentation:
A 56-year-old female, with previous history of intestinal pneumonitis, mild pulmonary hypertension and gastroesophageal reflux secondary to systemic scleroderma, is considered for lung transplant. Initially, due to persistent gastroesophageal reflux, a transplant was not a viable. This was corrected with an open gastrectomy with roux-en-Y anastomosis. Follow-up one week later revealed normal anatomy, adequate esophageal-jejunal anastomosis, and adequate contrast medium transit via esophagogram. Additionally, there was no evidence of contrast medium reflux indicating a resolved gastroesophageal reflux disease. This led to the patient becoming a candidate for lung transplant.
Discussion:
We suggest an open gastrectomy with roux-en-Y anastomosis as an alternative to the Nissen fundoplication for patients with connective tissue disease that develop terminal pulmonary consequences and require a lung transplant.
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia
Authors: Maria Chiriaco, Gigliola Di Matteo, Francesca Conti, Davide Petricone, Maia De Luca, Silvia Di Cesare, Cristina Cifaldi, Rita De Vito, Matteo Zoccolillo, Jessica Serafinelli, Noemi Poerio, Maurizio Fraziano, Immacolata Brigida, Fabio Cardinale, Paolo Rossi, Alessandro Aiuti, Caterina Cancrini, Andrea Finocchi
Journal: Front Immunol (2019)
Keywords: card9, myd88, ngs, primary immune deficiency (pid), pyogenic infections
MeSH terms: CARD Signaling Adaptor Proteins / genetics, Dendritic Cells / physiology, Epstein-Barr Virus Infections / genetics, Herpesvirus 4, Human / physiology, Immunoglobulin E / blood, Macrophages / immunology, Mutation / genetics, Myeloid Differentiation Factor 88 / genetics, Primary Immunodeficiency Diseases / genetics, Viremia / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Consanguinity, Female, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Pedigree, CARD Signaling Adaptor Proteins, CARD9 protein, human, MYD88 protein, human, Myeloid Differentiation Factor 88, Immunoglobulin E, MYD88 Deficiency

We described for the first time a female patient with the simultaneous presence of two homozygous mutations in MYD88 and CARD9 genes presenting with pyogenic bacterial infections, elevated IgE, and persistent EBV viremia. In addition to defective TLR/IL1R-signaling, we described novel functional alterations into the myeloid compartment. In particular, we demonstrated a defective production of reactive oxygen species exclusively in monocytes upon E. coli stimulation, the inability of immature mono-derived DCs (iDCs) to differentiate into mature DCs (mDCs) and the incapacity of mono-derived macrophages (MDMs) to resolve BCG infection in vitro. Our data do not provide any evidence for digenic inheritance in our patient, but rather for the association of two monogenic disorders. This case illustrates the importance of using next generation sequencing (NGS) to determine the most accurate and early diagnosis in atypical clinical and immunological phenotypes, and with particular concern in consanguineous families. Indeed, besides the increased susceptibility to recurrent invasive pyogenic bacterial infections due to MYD88 deficiency, the identification of CARD9 mutations underline the risk of developing invasive fungal infections emphasizing the careful monitoring for the occurrence of fungal infection and the opportunity of long-term antifungal prophylaxis.
Peripapillary Pachychoroid Syndrome (PPS): Diagnosing and Treating a Rare Entity
Authors: Peggy Bouzika, Ilias Georgalas, Maria-Evanthia Sotirianakou, Aristotelis Karamaounas, Chrysanthos Symeonidis, Konstantinos Tyrlis, Stylianos Blounas, Ekaterini Mani, Tryfon Rotsos
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Two cases with peripapillary pachychoroid syndrome (PPS) along with the challenges concerning correct diagnosis and treatment are presented. In the first case, the patient presented with painless unilateral gradual visual loss. Fundoscopy and optical coherence tomography (OCT) revealed cystoid macular edema (CME) in the left eye (LE), extending from the temporal optic disc margin towards the fovea, with no additional findings. Enhanced-depth imaging- (EDI-) OCT provided additional information and increased choroidal thickness nasally to the macula and pachyvessels in the outer choroidal layer, findings supportive of PPS. Photodynamic therapy (PDT) was applied at the leakage sites. Two months later, CME and subretinal fluid (SRF) had resolved, and VA had significantly improved. In the second case, a patient presented with reduced vision and metamorphopsia bilaterally over the previous 5 days. Fundoscopy revealed CME in both eyes. OCT confirmed the presence of CME in the papillomacular area in the right eye; similarly, CME was recorded in the macula of the LE with SRF located subfoveally. EDI-OCT showed increased choroidal thickness in both eyes. Treatment was administered, originally with dorzolamide eye drops along with eplerenone tablets, and then dexamethasone eye drops that eventually led to significant anatomic and functional improvement. It is important for ophthalmologists to be able to recognize the unique clinical entity of PPS, as its resemblance to disorders with similar features may lead to misdiagnoses and unnecessary, or even incorrect, interventions.
Case Report: Transcatheter Closure of Ruptured Sinus of Valsalva With Ventricular Septal Defect Occluder in a 3-Year-Old Child After Repair of Ventricular Septal Defect
Authors: Xueyang Gong, Jundao Wang, Luyao Wei, Tianli Zhao, Shijun Hu
Journal: Front Pediatr (2021)
Keywords: congenital heart disease, echocardiogram, retrograde approach, sinus of valsalva, transcatheter closure
MeSH terms: Case Reports

Sinus of Valsalva aneurysm (SVA) is a rare cardiac anomaly that can undergo spontaneous rupture into other cardiac chambers or the pericardial space. A ruptured SVA has a very poor prognosis with high morbidity and mortality. These aneurysms often present as a rupture from the right coronary sinus into the right ventricle. Transcatheter closure has become an effective alternative to surgical treatment. However, it has been rarely reported in patients after ventricular defect repair in the past. We here describe a 3-year-and-3-month-old boy who was found to have a ruptured sinus of Valsalva. He underwent surgical closure of a ventricular septal defect at the age of 2 months, which occurred in the non-coronary sinus (NCS) and ruptured into the right atrium. We successfully occluded the ruptured sinus of Valsalva with a ventricular septal occluder.
Late isolated central nervous system relapse from ovarian serous adenocarcinoma: a case report and literature review
Authors: Tiago Biachi de Castria, Sylvia Regina Quintanilha Rodrigues, Maria Del Pilar Estevez Diz
Journal: Case Rep Obstet Gynecol (2014)

Central nervous system involvement by ovarian serous adenocarcinoma is rare. We report a case of a 60-year-old woman that developed brain metastasis as isolated site of relapse 4.5 years after a complete resection and adjuvant chemotherapy for a stage Ic disease. She proceeded to a craniotomy with resection of the lesion and, subsequently, to a whole brain radiotherapy. Nineteen months later, she developed carcinomatous meningitis as isolated site of recurrence. Patient was submitted to intrathecal chemotherapy with methotrexate; however, she died from progressive neurologic involvement disease few weeks later.
Rituximab Treatment in Acute Disseminated Encephalomyelitis Associated with Salmonella Infection
Authors: Ebru Kacmaz, Gurkan Bozan, Kursat Bora Carman, Omer Kilic, Mehmet Ozgur Arslanoglu, Ugur Toprak, Aslı Kavaz Tufan, Coskun Yarar, Ener Cagri Dinleyici
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progressive disorder of the central nervous system. This condition is also known as postinfectious encephalomyelitis, and it is characterized by multifocal lesions in the brain and spinal cord with widespread neurological findings. High doses of intravenous (IV) methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange (PLEX) treatments comprise the first-line therapy. There are limited pediatric case reports refractory to standard treatment. Here, we present the case of a 17-year-old girl diagnosed with ADEM associated with Salmonella infection, which was treated with rituximab.
An extremely rare case of a high-grade pleomorphic cardiac sarcoma and likely cerebral metastasis in a young patient
Authors: T G Wilson, P Jenkins, A Hoschtitzky, M McCabe
Journal: Ecancermedicalscience (2016)
Keywords: cardiac mri, cardiac tumours, leiomyosarcoma, sarcoma
MeSH terms: Case Reports

To date, there have been less than a 100 confirmed case reports of primary cardiac malignant fibrous histiocytomas, a rare form of sarcoma. In this report, we discuss the case of a 15-year-old girl who initially presented with a histiocytic cerebral sarcoma that was treated with aggressive resection and chemotherapy. Three years later, the same patient developed increasing shortness of breath and was found to have a high-grade pleomorphic undifferentiated cardiac sarcoma that likely represents the primary tumour from which the cerebral lesion metastasised. This represents an extremely unique case; in 2010, a research group in Germany claimed the very first description of a true cardiac sarcoma with brain metastasis [1]. However, even as far back as 1960, there were three case reports [2] and more extensive sarcoma studies recently have revealed further cases [3]. Nevertheless, there have probably been less than 10 cases in the literature up until this point.
A Case of Endometrial Carcinosarcoma Containing Sertoliform Endometrioid Carcinoma Component
Authors: Satoru Munakata, Hanae Kushibiki, Taishi Akimoto, Tsuyoshi Yamashita, Norihiko Shimoyama
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Carcinosarcomas (CSs) of the endometrium have admixture of malignant epithelial and mesenchymal components. The carcinomatous component exhibit endometrioid, serous, or clear cell differentiation, or are undifferentiated. CSs are considered homologous or heterologous according to the type of sarcomatous component. Sertoliform endometrioid carcinomas (SECs) of the endometrium which comprise a rare subtype of endometrial cancer, typically occur in the ovary. SECs as a carcinomatous component of CS of the endometrium have not been reported. Here, we report an endometrial carcinosarcoma that contains an SEC component. An 88-year-old female presented to a clinic with atypical genital bleeding. She was referred to our hospital and underwent total hysterectomy, bilateral adnexectomy and partial omentectomy due to endometrial carcinoma. Gross examination revealed a polypoid mass in the uterine cavity with massive myometrial invasion. Histologically, the tumor was a high-grade endometrioid carcinoma. In addition to an ordinary conventional endometrioid carcinoma, approximately 30% of the area exhibited sex cord-like pattern and contained small hollow tubules, anastomosing cords and trabeculae, and tightly packed nests. Immunohistochemically, the SEC component showed diffuse p53 staining. Sex cord-like area, especially the solid area, showed positive staining for EMA, vimentin, α-inhibin, CD99, calretinin, p53, CD56, synaptophysin, and chromogranin A, which is a staining pattern similar to that previously reported SEC of the endometrium. Diminished membranous and positive cytoplasmic staining for β-catenin was observed. This is the first case report of an endometrial carcinosarcoma containing an SEC component. SECs of the endometrium might exhibit sex cord-like differentiation in contrast to SECs of the ovary, which do not exhibit sex cord differentiation.
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss
Authors: Peiliang Lei, Qingwen Zhu, Wenrong Dong, Siqi Zhang, Yanyan Sun, Xitong Du, Meng Geng, Yuan Jiang
Journal: PLoS One (2022)
MeSH terms: Hearing Loss / genetics, Hearing Loss, Sensorineural / genetics, Case Reports, Research Support, Non-U.S. Gov't, China, Humans, Mutation, Pedigree, GSDME protein, human, Nonsyndromic Deafness

Background:
Hearing loss is considered one of the most common sensory nervous system defects, about 60% of which are caused by genetic factors. Mutations in the GSDME gene are responsible for post-lingual, progressive, autosomal dominant hearing loss. This study aimed to characterize the genetic mutations and clinical features of a Chinese GSDME family.
Methods:
After clinical evaluations, high-throughput DNA sequencing was conducted using DNA samples from this family. Sanger sequencing was performed to verify the suspected variants. A detailed genotype and phenotype analysis were carried out. Gene set enrichment analysis (GSEA) was performed to identify the signaling pathway associated with GSDME expression.
Results:
A known hotspot heterozygous splice-site variation (c.991-15_991_13delTTC) was identified and shown to segregate with the hearing loss phenotype in the family. This pathogenic splice-site variant results in skipping of exon 8. GSEA analysis identified changes in regulation of the cell cycle checkpoint, peroxisome, and amino acid metabolism signaling pathways.
Conclusions:
We identified a reported mutation in the GSDME gene. Our findings support the 3 bp deletion (c.991-15_991-13del) was a hotspot variation, and it emerged as an essential contributor to autosomal dominant progressive hearing loss in East Asians. GSDME gene is closely associated with a range of signaling pathways. These characterized findings may provide new evidence for pathogenesis.
Case Report: Paraneoplastic Hashimoto's Encephalopathy Associated With Lymphomatosis Cerebri With Periodic Synchronous Discharges Resembling Creutzfeldt-Jakob Disease
Authors: Ryota Amano, Setsuro Tsukada, Shota Kosuge, Satoshi Yano, Kenjiro Ono, Makoto Yoneda, Katsumi Taki
Journal: Front Neurol (2021)
Keywords: creutzfeldt–jakob disease, hashimoto's encephalopathy, anti-nh2-terminal of α-enolase antibody, lymphomatosis cerebri, periodic synchronous discharge
MeSH terms: Case Reports

Hashimoto's encephalopathy (HE) is an autoimmune encephalopathy that presents with various clinical symptoms, including cognitive deterioration, convulsive seizures, and personality changes. HE is associated with thyroid autoimmunity; however, few cases have been reported to develop as paraneoplastic syndrome. Herein, we report the case of a 73-year-old woman with onset of rapidly progressive dementia. Brain magnetic resonance imaging showed diffuse T2 hyperintensity areas involving the bilateral cerebral white matter, right midbrain tegmental area, left cerebral peduncle, and right middle cerebellar peduncle without clear diffusion hyperintensities and gadolinium enhancement. Her neurological symptoms worsened rapidly, and she presented with the apallic syndrome. Electroencephalogram showed periodic synchronous discharge, suggestive of Creutzfeldt-Jakob disease. However, a brain biopsy revealed infiltration of atypical lymphoid cells expressing CD20, and the anti-NH2 terminal of the α-enolase antibody was detected, diagnosing the complication with lymphomatosis cerebri and HE. High-dose intravenous methylprednisolone therapy and oral prednisolone with whole cranial irradiation enabled her to have simple conversations and consume food orally; however, severe cognitive impairment persisted. Although HE is a rare complication of malignant lymphoma, clinicians should be aware that it could be strongly suspected if the clinical symptoms worsen in the absence of imaging changes.
Case Report: Perioperative management of a pregnant poly trauma patient for spine fixation surgery
Authors: Rashmi Vandse, Meghan Cook, Sergio Bergese
Journal: F1000Res (2015)
Keywords: spine surgery, neuro anesthesia, pneumothorax, poly trauma, pregnant

Trauma is estimated to complicate approximately one in twelve pregnancies, and is currently a leading non-obstetric cause of maternal death. Pregnant trauma patients requiring non-obstetric surgery pose a number of challenges for anesthesiologists. Here we present the successful perioperative management of a pregnant trauma patient with multiple injuries including occult pneumothorax who underwent T9 to L1 fusion in prone position, and address the pertinent perioperative anesthetic considerations and management.
Unexplained Hematocrit Increase after Therapeutic Phlebotomy in a Patient with Marked Erythrocytosis
Authors: Rushad Machhi, Ashley M Cunningham, Kenneth Hennrick, Karen A Schaser, Eliot C Williams, William Nicholas Rose
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

We report a patient with hereditary erythrocytosis who underwent a therapeutic phlebotomy and had a post-phlebotomy hematocrit that was higher than the pre-phlebotomy hematocrit. We could not discern a reason for this hematocrit increase after phlebotomy. Instead of performing another phlebotomy, we performed an automated red cell depletion via an apheresis instrument. This procedure is essentially a red cell exchange, but 5% albumin is used as the replacement fluid instead of red blood cells. The patient's hematocrit decreased from 80% to 39% after three consecutive daily red cell depletion procedures. We share our experience to report the unusual finding of a patient's hematocrit that increased with phlebotomy and to raise awareness of the red cell depletion procedure.