OpenMed/multicare-articles huggingface dataset:
Oral Rehabilitation with Removable Partial Denture of a Patient with Cleidocranial Dysplasia
Authors: Ali Jamali Ghomi, Reza Sayyad Soufdoost, Mohammad Saeed Barzegar, Mohammad Ali Hemmati
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

This case report describes the oral rehabilitation of a patient with cleidocranial dysplasia who received a removable partial denture along with silicone-based permanent soft liner to improve esthetic and masticatory function. This patient was the candidate of neither implant nor orthodontic treatment due to medical conditions, history of mandible fracture, age, and risk of fracture after mandibular teeth extractions. Cone-beam computed tomography has made it possible to obtain comprehensive information regarding the morphology and positional relationship of impacted supernumerary teeth. Also, proper collaboration between surgeon and prosthodontist helped to achieve significant improvements in patient's self-esteem, masticatory function, and esthetic.
Case Report: 3D Printing Guided Cardiac Autotransplantation for Treatment of a Giant Complex Primary Left Atrial Tumor
Authors: Yang-Zhao Zhou, Tao Tang, Cheng Luo, Xin-Min Zhou, Xian-Ming Fu
Journal: Front Cardiovasc Med (2021)
Keywords: 3-dimensional printing, atrial myxoma, cardiac autotransplantation, primary cardiac tumors, surgical resection and reconstruction
MeSH terms: Case Reports

Primary cardiac tumors are rare and complete surgical resection is the optimal treatment. However, it is a great challenge to resect some malignant or complex benign left-sided cardiac tumors situated on the posterior aspect of the heart using conventional surgical resection techniques. Previous studies reported that cardiac autotransplantation is a feasible and safe technique for resection of such cardiac tumors. We report a successful case of cardiac autotransplantation with 3-dimensional (3D) printing technique for complete resection of a giant complex primary left atrial tumor.
PFO Closure after Pulmonary Valve Intervention in Patients with Hypoxemia Due to Right-to-Left Intracardiac Shunt
Authors: Suhas Babu, Zhihao Zhu, Miguel Chavez, Rahul Singh, Zhongyu Li, Lamees I El Nihum, Valeria E Duarte, Thomas E MacGillivray, C Huie Lin
Journal: Methodist Debakey Cardiovasc J (2022)
Keywords: hypoxemia, patent foramen ovale, pulmonary valve regurgitation, pulmonary valve replacement, right ventricle, right-to-left intracardiac shunt, volume overload
MeSH terms: Cardiac Surgical Procedures / adverse effects, Foramen Ovale, Patent / complications, Foramen Ovale, Patent / diagnostic imaging, Foramen Ovale, Patent / surgery, Pulmonary Valve, Case Reports, Dyspnea, Humans, Hypoxia / etiology

Four patients with pulmonary valve (PV) disease and patent foramen ovale (PFO) presented with dyspnea on exertion. Work-up revealed hypoxemia secondary to right-to-left intracardiac shunt. We demonstrate that correction of the primary culprit right heart overload lesion via PV replacement enabled safe PFO repair and resolution of hypoxemia.
Rare Lipomatous Tumors with Osseous and/or Chondroid Differentiation in the Oral Cavity Report of Two Cases and Review of the Literature
Authors: Kayo Kuyama, Sisilia Fusi Fifita, Masamichi Komiya, Yan Sun, Yoshiaki Akimoto, Hirotsugu Yamamoto
Journal: Int J Dent (2009)
MeSH terms: Case Reports

The purpose of this study was to determine the clinicopathological and immunohistochemical features of lipoma/fibrolipoma with rare occasions as osseous and/or chondroid differentiation in the oral cavity. Two cases of the tumors, who presented with a painless, relatively hard mass on the oral mucosa, were studied. These were consisted of a well-circumscribed mass of fatty tissue with chondroid and significant fibrous component intermixed with the lobules of fat cells with chondroid and woven bone component, respectively. Immunohistochemical study revealed that peripheral spindle cells around chondroid tissue stained diffusely for S-100 alpha & beta and Sox-9, though peripheral spindle cells around osteoid tissue only stained for RUNX-2. According to review of the literature, lipoma/fibrolipoma with osseous and/or chondroid differentiation was 18 cases. Also fibrolipoma with osseous and chondroid differentiation is the first to be reported here. These results indicated that the cartilage/bone is produced by differentiation of undifferentiated mesenchymal cells of stroma.
Ectopic pheochromocytoma or paraganglioma of the ZUCKERKANDL organ: A case report and review of the literature
Authors: Nayi Zongo, Adjirata Koama, Benilde Marie Ange Kambou/Tiemtoré, Nina A Nde/Ouédraogo, Maurice Zida, Marie N L Ouédraogo, Edgard Ouangré, Adama Sanou, Olga Melanie Lompo, Ousséni Diallo, Claudine Lougué/Sorgho, Rabiou Cissé
Journal: Int J Surg Case Rep (2019)
Keywords: diagnosis, pheochromocytoma, surgery

Introduction:
Paraganglioma of the ZUCKERKANDL organ are rare. Diagnosis is based on clinical, radiological and biological arguments. We report a case to describe our surgical procedure and insist on the necessity of preoperative diagnosis.
Presentation of case:
BA, 52-years-old male patient was seen in consultation for left hypochondrium pains. The clinical examination had revealed a painful tumefaction in the left flank and the left hypochondrium. A deep mass was observed, but was difficult to be assessed, due to pain. Abdominal-pelvic CT scan with contrast injection had revealed a tissue mass, suggesting a tumor of the tail of the pancreas. Laparotomy showed this mass was not attached to the tail of the pancreas, and was along the abdominal aorta up to the aortic bifurcation. Upon touching the mass, blood pressure raised up to 240 mmHg. A least mobilization of the mass and the use of nicardipine helped maintain blood pressure below 180mmhg. Dissection was carried out from the aortic bifurcation to the TREITZ's angle and the mass was removed. The follow-ups were characterized by low blood pressure a few minutes following the resection of the mass.
Discussion:
Pheochromocytoma is rare. The Clinical signs, Abdominal-pelvic CT scan and biology are the steps of the preoperative diagnosis. The surgery consists a lumpectomy. The resuscitation determines the patient's prognosis.
Conclusion:
Pheochromocytoma is an unusual mass. Preoperative diagnosis can be difficult in pauci-symptomatic cases. One should consider this in the face of any abdominal mass, so as to improve planning of resuscitation which determines the patient's prognosis.
Hysterotomy for retained placenta in a septate uterus: a case report
Authors: Daniel Lee, Joseph Johnson
Journal: Case Rep Obstet Gynecol (2012)
MeSH terms: Case Reports

Retained placenta is a common complication of the third stage of labor. Most literature has focused on management of a trapped placenta or placenta accreta. The most common source of a trapped placenta is from a partial closure of the cervix and/or a contracted lower uterine segment. We present an unusual case of a retained placenta trapped in a septate uterus. The management included unsuccessful conservative measures that resulted in delivery of the placenta by laparotomy with hysterotomy.
Endometrial stromal sarcoma arising in colorectal endometriosis: a case report and review of the literature
Authors: Qiao Wang, Xia Zhao, Ping Han
Journal: Case Rep Obstet Gynecol (2015)

Extrauterine endometrial stromal sarcoma (ESS) arising in endometriosis is extremely rare, particularly in the colorectum. It should always be included in the differential diagnosis of primary tumors originating from gastrointestinal tract in females, given that preoperative endoscopical biopsy may reveal no specific changes. We reported a case of ESS arising in colorectal endometriosis and reviewed the previous 7 cases reported in the English literature. Our patient, who was unavailable for tumor resection and refused further adjuvant therapy, played a role in representing the natural history of low-grade extragenital ESS. This case was the only death from ESS arising in colorectal endometriosis.
Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor
Authors: Yanming Chen, Qing Zhu, Ye Wang, Xiaoxiao Dai, Ping Chen, Ailin Chen, Sujuan Zhou, Chungang Dai, Shengbin Zhao, Sheng Xiao, Qing Lan
Journal: Front Oncol (2022)
Keywords: idh1, lhfpl3, ntrk2, dysembryoplastic neuroepithelial tumors, next-generation sequencing
MeSH terms: Case Reports

Neurotrophic tyrosine receptor kinase (NTRK) rearrangements are oncogenic drivers of various types of adult and pediatric tumors, including gliomas. However, NTRK rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel NTRK2 rearrangement in a 24-year-old female with dysembryoplastic neuroepithelial tumor (DNT), a circumscribed WHO grade I benign tumor associated with epilepsy. By utilizing targeted RNA next-generation sequencing (NGS), fluorescence in situ hybridization (FISH), reverse transcriptase PCR (RT-PCR), and Sanger sequencing, we verified an in-frame fusion between NTRK2 and the lipoma HMGIC fusion partner-like 3 (LHFPL3). This oncogenic gene rearrangement involves 5' LHFPL3 and 3' NTRK2, retaining the entire tyrosine kinase domain of NTRK2 genes. Moreover, the targeted DNA NGS analysis revealed an IDH1 (p.R132H) mutation, a surprising finding in this type of tumor. The pathogenic mechanism of the LHFPL3::NTRK2 in this case likely involves aberrant dimerization and constitutive activation of RTK signaling pathways.
Case Report: Pericardial Tamponade and Hemothorax After Superior Vena Cava Filter Removal
Authors: Xueping Zeng, Jin Zhou, Qidi Zhou, Zhigang Huang
Journal: Front Cardiovasc Med (2022)
Keywords: hemothorax, pericardial tamponade, pulmonary embolism (pe), superior vena cava filter (svcf), upper extremity deep venous thrombosis (uedvt)
MeSH terms: Case Reports

A 67-year-old male patient was admitted to receive surgical treatment because of lumbar spinal stenosis. Ultrasonography showed a thrombus in the middle and lower segment of the left internal jugular vein. Superior vena cava filter implantation was performed and removed on day 7 after its implantation. The patient suddenly had dyspnea, and his blood pressure decreased 9 h after filter removal. Examinations showed pericardial tamponade and hemothorax. In addition, aortic dissection occurred approximately 20 days after superior vena cava filter removal. This case aimed to provide information to clinicians about the complications of the implantation and removal of superior vena cava filter implantation. The safety and possible complications of superior vena cava filter implantation and removal should be evaluated to identify their actual clinical benefit and cost-effectiveness ratio.
Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report
Authors: Jun-Teng Yao, Ming-Zhi Xu, Yu-Ren Zhang, Bai-Rong Wang, Mei-Rong Li, Lu Gao
Journal: Open Life Sci (2023)
Keywords: 17α-hydroxylase deficiency, cyp17a1 gene abnormality, congenital adrenal hyperplasia, infertility, refractory hypokalemia, sexual hypoplasia, triple x syndrome
MeSH terms: Case Reports

The present study reports a patient case with a 17α-hydroxylase deficiency accompanied by triple X syndrome. A 17α-hydroxylase deficiency leads to a very low 17α-hydroxylated steroid synthesis as well as a non-feedback increase in the adrenocorticotropic hormone level. Meanwhile, the progesterone level increases the 17α-hydroxyprogesterone level and decreases the dehydroepiandrosterone sulfate level. The patient is characterized by intractable hypokalemia, high urinary potassium, hyperaldosteronemia, hyporeninemia, hypocortisolemia, hypertension, gonadal and secondary sexual dysplasia, a decreased estrogen level, primary amenorrhea, and infertility. The imaging findings indicate a presence of multiple bilateral adrenal gland adenomas, and the sequencing indicates a missense CYP17A1-E7 gene pathogenic variant. The karyotype is a 47, XXX [3]/46, XX [47] low-level chimeric karyotype. The patient's parents are cousins. To our knowledge, this patient is the first case diagnosed with congenital adrenal hyperplasia caused by hydroxylase deficiency and triple X syndrome. The uniqueness of this case is that this patient has two very rare genetic diseases, probably due to the marriage of close relatives.
The utility of dual energy computed tomography in the management of axial gout: case reports and literature review
Authors: Jeremy X Wang, Beverly Ng, Haesung Bak, David Spencer, Nicholas Manolios, Peter K K Wong
Journal: BMC Rheumatol (2020)
Keywords: back pain, diagnosis, dual energy computed tomography, spinal gout
MeSH terms: Case Reports

Background:
Severe spinal pain is an unusual presentation of gout. Due to its rarity and the difficulty of obtaining joint fluid or tissue for crystal analysis, dual energy computed tomography (DECT) may be a useful imaging modality in the management of axial gout.
Case presentation:
Two patients independently presented to a major teaching hospital with severe spinal pain subsequently shown to be due to gout. The first patient presented with back pain and fevers and was initially thought to have lumbar facet joint septic arthritis. The second case presented with severe back pain. In both cases, DECT suggested monosodium urate deposition in spinal tissues as the cause of their presentation.
Conclusions:
Axial gout should be considered in the differential diagnosis of severe spinal pain. A DECT study may be a useful diagnostic tool in the management of spinal gout.
Gastric collision tumour with probable ectopic pancreatic origin
Authors: Juan Francisco Olivos Gonzáles, Rodrigo Arroyo-Gárate, Miguel Angel Leon Estrella, Gustavo Cerrillo, Stefanie Campos Medinae
Journal: Ecancermedicalscience (2022)
Keywords: neoplasms, pancreatic neoplasms, stomach neoplasms
MeSH terms: Case Reports

Introduction:
Mixed histology tumours are rarely found in the stomach. Of these, collision tumours are mainly composed of adenocarcinomas and sarcomas or lymphomas. This is the seventh case reported in the literature of an acinar cell carcinoma arising from an ectopic pancreas located in the stomach and the first described within a collision tumour.
Clinical case:
We present the case of a 58-year-old female patient diagnosed with gastric cancer who, after undergoing a total gastrectomy, presented with a pathology report describing findings compatible with gastric collision tumour with components of tubular adenocarcinoma and acinar cell carcinoma of probable pancreatic ectopic aetiology.
Discussion:
At the beginning of the 20th century, collision tumours were rarely described. Those located in the stomach are an infrequent pathology and are rarely diagnosed preoperatively. A collision tumour is composed of two independent neoplastic tissue with tumour areas separated in two different histological patterns and, in case of metastasis, this separation must also be clearly identified. There are different theories about its carcinogenesis and the debate regarding the ideal treatment is still ongoing.
Conclusion:
This is the first report of a malignant gastric tumour with probable heterotopic pancreatic origin that collides with gastric adenocarcinoma.
A case of premature ovarian failure in a 33-year-old woman
Authors: Emma Colao, Teresa Granata, Marco F M Vismara, Francesco Bombardiere, Donatella Nocera, Elisa Luciano, Nicola Perrotti, Paola Malatesta
Journal: Case Rep Genet (2013)

Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.
Highlighting the Place of Metastasis-Directed Therapy in Isolated Liver Metastases in Prostate Cancer: A Case Report
Authors: Anne-Emmanuella Yeo, Aurore Hendrix, Caterina Confente, Nicolas Christian, Baudouin Mansvelt, Géraldine Pairet, Emmanuel Seront
Journal: Front Oncol (2021)
Keywords: abiraterone acetate, case report, liver metastasis, metastasis-directed therapy, oligometastatic, prostate cancer
MeSH terms: Case Reports

Metastatic prostate cancer remains a challenge for clinicians. Metastases involve mainly the bone compartment and can manifest as oligometastatic disease. In this setting, the role of metastasis-directed therapies (MDT) including surgery and/or stereotactic body radiotherapy is currently evaluated. Visceral metastases are less common and have very poor prognosis in mPC. Whether treating isolated visceral metastases such as liver metastases with MDT could increase the prognosis remains unknown. We report the management of a prostate cancer patient who progressed on androgen deprivation therapy with apparition of two liver metastases. We describe the feasibility of combining MDT with abiraterone acetate and prednisone in a patient with metastatic castration-resistant prostate cancer. MDT allowed the interruption of abiraterone acetate, preventing cumulative toxicity of this agent.
EEG suppression associated with apneic episodes in a neonate
Authors: Evonne Low, Eugene M Dempsey, C Anthony Ryan, Janet M Rennie, Geraldine B Boylan
Journal: Case Rep Neurol Med (2012)
MeSH terms: Case Reports

We describe the EEG findings from an ex-preterm neonate at term equivalent age who presented with intermittent but prolonged apneic episodes which were presumed to be seizures. A total of 8 apneic episodes were captured (duration 23-376 seconds) during EEG monitoring. The baseline EEG activity was appropriate for corrected gestational age and no electrographic seizure activity was recorded. The average baseline heart rate was 168 beats per minute (bpm) and the baseline oxygen saturation level was in the mid-nineties. Periods of complete EEG suppression lasting 68 and 179 seconds, respectively, were recorded during 2 of these 8 apneic episodes. Both episodes were accompanied by bradycardia less than 70 bpm and oxygen saturation levels of less than 20%. Short but severe episodes of apnea can cause complete EEG suppression in the neonate.
Pulmonary Embolism following Percutaneous Nephrolithotomy: An Uncommon and Life-Threatening Complication
Authors: Spyridon Paparidis, Antonios Katsimantas, Dimitrios Oikonomidis, Nikolaos Ferakis
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

High risk pulmonary embolism is a rare and life-threatening complication following percutaneous nephrolithotomy. We report the case of a previously healthy, 44-year-old male, who developed acute pulmonary embolism following right percutaneous nephrolithotomy. On the 1st postoperative day, the patient presented with hemodynamic instability, acute respiratory distress, hypoxia, and loss of consciousness. He was urgently intubated and placed on mechanical ventilation. Clinical findings set the suspicion of pulmonary embolism with shock. Chest computed tomography scan confirmed the diagnosis. The patient underwent urgent thrombolysis in the cardiac care unit. On the 2nd postoperative day, the patient was admitted to the intensive care unit due to hemodynamic instability and fever. The postoperative course was complicated by right renal bleeding on the 3rd postoperative day, which was managed through angiography and angioembolization of the lower segmental right renal artery, followed by recurrent respiratory and urinary tract infections. The patient was transferred back to the urology department on the 66th postoperative day and was discharged seven days later.
Ovarian Non-Hodgkin Lymphoma Revealed by Bone Metastasis: A Rare Pediatric Case
Authors: M Elbaz, S Hiroual, F Boukis, H Raiss, A Matrane, J Elhoudzi
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Ovary involvement of non-Hodgkin lymphoma (NHL) is rare. We report a rare case of ovarian NHL during adolescence revealed by bone metastasis. The diagnosis of malignant lymphoma was established after adnexectomy and histological study of the excised tissue. The tumor was classified as a diffuse large B-cell lymphoma. The patient has been treated according to the LMB French protocol with good outcome after two years. Although NHL is a rare ovarian neoplasm, it is essential to establish an accurate diagnosis as early as possible for therapeutic purposes.
A novel three-way rearrangement involving ETV6 (12p13) and ABL1 (9q34) with an unknown partner on 3p25 resulting in a possible ETV6-ABL1 fusion in a patient with acute myeloid leukemia: a case report and a review of the literature
Authors: Carlos A Tirado, Ken Siangchin, David S Shabsovich, Maryam Sharifian, Gary Schiller
Journal: Biomark Res (2016)
Keywords: aml, cytogenetics, etv6-abl1, fish, imatinib, mds

Background:
Acute myeloid leukemia (AML) is commonly characterized by several chromosomal abnormalities resulting in the formation of chimeric genes that play various roles in leukemogenesis. Translocations resulting in the ETV6-ABL1 fusion gene are rare in AML and other hematologic malignancies with only thirty-two previously reported cases in the literature, five of which were AML.
Findings:
Herein, we report the case of a 73-year-old male with acute myeloid leukemia arising from MDS, negative for PDGFRA and PDGFRB, positive for bone marrow eosinophilia, rash, and marked fluid retention, which improved dramatically with imatinib therapy. Conventional cytogenetics revealed a t(3;9)(p25;q34), t(5;18)(q13;p11.2), and additional material of unknown origin at 12p11.2 in 2 out of 10 metaphases analyzed. Interphase FISH studies showed evidence of ETV6 (12p13) and ABL1 (9q34) rearrangements in 41.3 % and 5.7 % of the cells respectively. FISH studies on previously G-banded metaphases showed colocalization of ABL1 and ETV6 signals to the short arm of chromosome 3 at 3p25 suggesting a possible ETV6-ABL1 fusion. Subtelomeric metaphase FISH studies also showed the presence of a subtelomere 3p signal on the long arm of the derivative 9, and no subtelomere 3p signal on the derivative chromosome 12.
Conclusions:
These findings suggest a complex rearrangement involving an insertion of ETV6 into 3p25 followed by a reciprocal translocation involving 3p25 and 9q34, resulting in a possible ETV6-ABL1 fusion. This case highlights the importance of FISH to characterize complex rearrangements in myeloid malignancies, particularly those resulting in clinically significant chimeric genes.