OpenMed/multicare-articles huggingface dataset:
Vascular plug-assisted retrograde transvenous obliteration of portosystemic shunts for refractory hepatic encephalopathy: a case report
Authors: Jonathan K Park, Sung-Ki Cho, Stephen Kee, Edward W Lee
Journal: Case Rep Radiol (2014)

While balloon-assisted retrograde transvenous obliteration (BRTO) has been used for two decades in Asia for the management of gastric variceal bleeding, it is still an emerging therapy elsewhere. Given the shunt closure brought about by the procedure, BRTO has also been used for the management of portosystemic encephalopathy with promising results. Modified versions of BRTO have been developed, including plug-assisted retrograde transvenous obliteration (PARTO), where a vascular plug is deployed within a portosystemic shunt. To our knowledge, we present the first North American case of PARTO in the setting of a large splenorenal shunt for the management of portosystemic encephalopathy.
Acquired jugular vein aneurysm
Authors: Erkki Hopsu, Jussi Tarkkanen, Seija I Vento, Anne Pitkäranta
Journal: Int J Otolaryngol (2009)
MeSH terms: Case Reports

Venous malformations of the jugular veins are rare findings. Aneurysms and phlebectasias are the lesions most often reported. We report on an adult patient with an abruptly appearing large tumorous mass on the left side of the neck identified as a jugular vein aneurysm. Upon clinical examination with ultrasound, a lateral neck cyst was primarily suspected. Surgery revealed a saccular aneurysm in intimate connection with the internal jugular vein. Histology showed an organized hematoma inside the aneurysmal sac, which had a focally thinned muscular layer. The terminology and the treatment guidelines of venous dilatation lesions are discussed. For phlebectasias, conservative treatment is usually recommended, whereas for saccular aneurysms, surgical resection is the treatment of choice. While an exact classification based on etiology and pathophysiology is not possible, a more uniform taxonomy would clarify the guidelines for different therapeutic modalities for venous dilatation lesions.
A Complex Case of Emphysematous Cystitis in a Peritoneal Dialysis Patient
Authors: Christina Okello, Rajesh Raj
Journal: Case Rep Nephrol (2021)
MeSH terms: Case Reports

Emphysematous cystitis (EC) is a relatively rare condition characterized by gas formation in the bladder wall and/or lumen. We report a case of emphysematous cystitis with a bladder perforation in an 84-year-old male on peritoneal dialysis who presented with fever, dysuria, hematuria, and hypotension. Gas in the bladder wall, as well as a small perforation in the roof of the urinary bladder, was seen on the abdominal CT scan. The causative organism identified was Escherichia coli. The patient recovered with broad-spectrum antibiotics along with bladder irrigation and drainage. After initial bladder washouts, peritoneal dialysis was continued with close monitoring. Early antibiotic therapy and a conservative approach to the management of small intraperitoneal bladder perforations were effective in this patient. Peritoneal dialysis was uninterrupted for the duration of the admission and after discharge.
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report
Authors: Fengchang Qiao, Binbin Shao, Chen Wang, Yan Wang, Ran Zhou, Gang Liu, Lulu Meng, Ping Hu, Zhengfeng Xu
Journal: Front Genet (2019)
Keywords: dyrk1a, intellectual disability, microcephaly, nonsense mutation, whole-exome sequencing
MeSH terms: Case Reports

Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. Some studies show that the disorder has a close correlation with variants in DYRK1A. Herein we described a Chinese girl presenting typical clinical features diagnosed at 4 years old. Whole-exome sequencing of the familial genomic DNA identified a novel mutation c.930C > A (p.Tyr310*) in exon 7 of DYRK1A in the proband. The nonsense mutation was predicted to render the truncation of the protein. Our results suggested that the de novo heterozygous mutation in DYRK1A was responsible for the MRD7 in this Chinese family, which both extended the knowledge of mutation spectrum in MRD7 patients and highlighted the clinical application of exome sequencing.
Endoscopic treatment of obstructive ureterohydronephrosis in children
Authors: Charikleia Demiri, Vassilis Lambropoulos, Vasileios Mouravas, Chrysostomos Kepertis, Dimitrios Godosis, Maria Tsopozidi, Ioannis Spyridakis
Journal: Pan Afr Med J (2020)
Keywords: ureterohydronephrosis, endoscopic treatment, paediatric surgery
MeSH terms: Endoscopy, Hydronephrosis / therapy, Ureteral Obstruction / therapy, Case Reports, Female, Humans, Hydronephrosis / diagnosis, Hydronephrosis / pathology, Infant, Male, Quality of Life, Treatment Outcome, Ureteral Obstruction / diagnosis, Ureteral Obstruction / pathology

Obstructive ureterohydronephrosis in childhood population is a matter of debate between paediatric surgeons and paediatricians, as far as the therapeutic protocol that should be applied. Close observation, chemoprophylaxis, endoscopic and surgical approaches are the universally used techniques that provide quality of life in the paediatric patients. Undoubtedly, "the less is more" even when we have to encounter obstructive ureterohydronephrosis in children. Herein, we present a short case series where the endoscopic management of obstructive uropathies proved to be therapeutic without any need of surgical intervention.
A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism
Authors: Gulden Diniz, Ozgur Olukman, Sebnem Calkavur, Muammer Buyukinan, Canan Altay
Journal: Case Rep Pathol (2015)

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion.
Retromammary fat, axillary and arm metastases from a retroperitoneal leiomyosarcoma: report of a case with an indolent behaviour
Authors: Walberto Monteiro Neiva Eulálio Filho, Samuel Madeira Campos Melo, Rafaela de Brito Alves, Luiz Ayrton Santos Junior, Danilo da Fonseca Reis Silva
Journal: Ecancermedicalscience (2017)
Keywords: leiomyosarcoma, neoplasm metastasis, subcutaneous tissue
MeSH terms: Case Reports

Leiomyosarcomas are sarcomas that originate within smooth muscle cells and generally occur in older patients. These tumours account for 10% of all soft-tissue sarcomas. Metastases occur most commonly to the lungs, kidneys, and liver. Cutaneous metastases may also occur but are usually a very rare and late event. We present a case of a 46-year-old woman who developed subcutaneous metastasis to the axilla, arm and breast after surgical resection of the primary tumour. The patient maintained controlled disease with surgical resections and clinical follow-up, initiating chemotherapy one year after the diagnosis of metastatic disease.
Avulsion Fracture of the Tibial Tuberosity Combined with Lateral Tibial Plateau in an Adolescent
Authors: Jameel Mahmoud, Bander S Alrashedan, Khalid M Allimmia, Basam Alanazi, Talal A Alshehri
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Avulsion fractures of the tibial tuberosity are commonly sustained in adolescent males during sport activities which involve jumping and tackling. Tibial tuberosity avulsions combined with lateral tibial plateau in an adolescent are rare injuries. We received an unusual case of left Ogden type IIIB avulsion fracture of the tibial tuberosity with an articular involvement of the lateral tibial plateau (Salter Harris type IV) in a 14-year-old boy. The injury was sustained after jumping from three stairs where the boy predominantly landed on his left lower limb. Unlike other cases reported, since they were athletes and injuries were sustained during sport activities, our case is an obese individual who jumped off few stairs. The results following surgical treatment are excellent since the fracture united, and the articular surface was restored without the need of arthrotomy with gaining full range of motion. Therefore, displaying this case in the literature will be helpful since it is rare and was successfully treated differently from the previously reported cases.
Endoscopic Treatment of Colonic Duplication Cyst: A Case Report and Review of the Literature
Authors: Rajat Garg, Louis D Saravolatz, Mohammed Barawi
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Colonic duplication cysts are a rare congenital abnormality commonly presenting before two years of age. In adults, it has been rarely reported, most often as an incidental finding. We report a case of 42-year-old female complaining of constipation and lower abdominal pain. Patient's CT scan of the abdomen showed a cystic lesion at hepatic flexure and the diagnosis was confirmed endoscopically using endoscopic ultrasound (EUS). The cyst was treated employing hot snare to expose the cyst cavity. On our literature search, there have been no reported cases of colonic duplication cyst treated endoscopically. We here discuss incidence, diagnosis, characteristics, and treatment of duplication cysts with special emphasis on endoscopic therapy.
Successful Repair of TEF and DORV in a Child in a Resource-Limited Setting
Authors: Eru Sujakhu, Rajendra Shilpakar, Dhruba Shrestha
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

VACTERL association is typically defined by the presence of at least three of the congenital malformations that make up the term including: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula (TEF), renal anomalies, and limb deformities. Patients with VACTERL are typically managed through immediate-postnatal-surgical correction of the specific congenital anomalies (typically anal atresia, specific types of cardiac malformations, and/or TEF), followed by long-term medical management of the congenital malformations. Although congenital anomalies might have long-lasting effects, the prognosis can be positive when the best surgical remedy is possible. Here, we present a case of 5 years female that is a known case of VACTERL Status Post (S/P)TEF repair, S/P double outlet right ventricle repair at sixth day and fifth month of life. This child managed to survive despite being operated in a resource-limited setting.
Paraneoplastic syndrome--unresponsive systemic hypertension and fever as expression of primitive ciliary body carcinoma in a blind painful eye: a case report
Authors: Laura Balia, Paolo Vinciguerra, Alessandra Di Maria, Raffaele Piscopo, Mary Romano
Journal: J Med Case Rep (2016)
MeSH terms: Ciliary Body / pathology, Fever / etiology, Hypertension / etiology, Neoplasm Recurrence, Local / pathology, Paraneoplastic Syndromes, Ocular / diagnosis, Uveal Neoplasms / pathology, Case Reports, Adult, Drug Resistance, Multiple, Fatal Outcome, Humans, Male, Neoplasm Recurrence, Local / surgery, Paraneoplastic Syndromes, Ocular / pathology

Background:
The purpose of this study was to present a case of paraneoplastic systemic hypertension and fever in an undiagnosed primary ciliary body carcinoma arising in a painful blind eye.
Case presentation:
A 37-year-old white man with a history of blindness since childhood was enucleated for neovascular glaucoma because of intractable pain in his right eye. A histopathological examination revealed a ciliary body carcinoma. One year later, an invasive recurrence of his orbit and ethmoid was detected and a debulking procedure was performed. He had untreatable fever and multidrug-resistant systemic hypertension for 3 months before the neoplasm diagnosis. He recovered from fever and systemic hypertension only after tumor excision and relapsed 1 year later when synchronous tumor dissemination was shown through a computed tomography scan. Tumor metastases, despite surgery and chemotherapy, caused his death.
Conclusions:
Paraneoplastic symptoms such as fever and hypertension may be due to unrecognized ocular malignancy. This case report intends to emphasize the importance of histopathological examination of an enucleated phthisical painful blind eye.
Solitary fibrous tumor of the tongue
Authors: Juliana Mota Siqueira, Daniele Heguedusch, Emília Maria Gomes Aguiar, Anaeliza Figueiredo Dos Santos, Fabio Abreu Alves, Fabio Daumas Nunes
Journal: Autops Case Rep (2022)
Keywords: oral pathology, oral diagnosis, solitary fibrous tumors
MeSH terms: Case Reports

Solitary fibrous tumor (SFT) is a benign mesenchymal neoplasm originally described in pleura with a rare presentation in the oral cavity. Herein, we report a case of a 28-year-old male patient who presented an asymptomatic slow-growing mass in the anterior part of the tongue. Intraoral examination revealed a well-circumscribed mass covered by normal mucosa with a fibrous consistency. Due to non-specific clinical findings, the initial diagnostic hypotheses include benign submucosal neoplasms such as leiomyoma, neurofibroma, SFT, and others. An excisional biopsy was performed. Microscopically, the tumor was surrounded by a thick fibrous capsule; hypo and hypercellular areas were arranged in a storiform pattern with a stroma formed by collagen and abundant vascularization. Tumor cells showed immunopositivity for CD34 and STAT-6 and no expression of CD99, AML, S-100, and Ki-67. According to these findings, the diagnosis of SFT was established. After 24 months, the patient is asymptomatic and has no evidence of recurrence. Although oral involvement is rare, SFT should be included in the differential diagnosis of oral submucosal lesions.
Safety of COVID-19 vaccine in patients with myasthenia gravis: a self-controlled case series study
Authors: Zhe Ruan, Xiao Huan, Yue Su, Yong-Lan Tang, Dong-Dong Meng, Da-Lin Ren, Chun-Hong Li, Si-Jia Hao, Chong-Bo Zhao, Su-Shan Luo, Zhu-Yi Li, Ting Chang
Journal: Front Immunol (2023)
Keywords: covid-19 vaccines, myasthenia gravis, self-control study, vaccine hesitancy, vaccine safety
MeSH terms: COVID-19 Vaccines / administration & dosage, COVID-19 Vaccines / adverse effects, COVID-19 / prevention & control, Myasthenia Gravis, Thymus Neoplasms, Research Support, Non-U.S. Gov't, Humans, Research Design, Tertiary Care Centers, COVID-19 Vaccines

Background:
The safety of COVID-19 vaccines has been clarified in clinical trials; however, some immunocompromised patients, such as myasthenia gravis (MG) patients, are still hesitant to receive vaccines. Whether COVID-19 vaccination increases the risk of disease worsening in these patients remains unknown. This study aims to evaluate the risk of disease exacerbation in COVID-19-vaccinated MG patients.
Methods:
The data in this study were collected from the MG database at Tangdu Hospital, the Fourth Military Medical University, and the Tertiary Referral Diagnostic Center at Huashan Hospital, Fudan University, from 1 April 2022 to 31 October 2022. A self-controlled case series method was applied, and the incidence rate ratios were calculated in the prespecified risk period using conditional Poisson regression.
Results:
Inactivated COVID-19 vaccines did not increase the risk of disease exacerbation in MG patients with stable disease status. A few patients experienced transient disease worsening, but the symptoms were mild. It is noted that more attention should be paid to thymoma-related MG, especially within 1 week after COVID-19 vaccination.
Conclusion:
COVID-19 vaccination has no long-term impact on MG relapse.
Neoadjuvant osimertinib and chemotherapy for stage IIIA primary pulmonary carcinosarcoma with EGFR 19DEL mutation: A case report
Authors: Hongming Wang, Zhijun Wu, Yangfeng Du, Tao Wu, Wei Tian, Wen Dong, Juan Cai, Jiang Zheng, Yan Zhang, Shiyan Li, Wei Xu, Jing Qin, Zemin Xiao
Journal: Front Oncol (2023)
Keywords: egfr, chemotherapy, neoadjuvant, osimertinib, pulmonary carcinosarcoma
MeSH terms: Case Reports

Epidermal growth factor receptor (EGFR) mutations have been frequently detected in patients with pulmonary adenocarcinoma. EGFR Exon 19Del and 21L858R mutations are the two most common EGFR mutations. EGFR-tyrosine kinase inhibitors (TKIs) are widely employed to treat patients with non-small cell lung cancer (NSCLC) harboring EGFR mutations. Recently, there has been rapid growth in clinical trials assessing neoadjuvant targeted therapy, indicating good application prospects owing to high efficiency and low toxicity. Herein, we discuss the case of a 56-year-old male patient who was initially diagnosed with stage IIIA pulmonary adenocarcinoma (AJCC,8th edition) of the left lower lung with an EGFR Exon 19Del mutation. The patient was treated with osimertinib but failed to undergo timely review and surgery. Subsequently, the patient underwent two cycles of neoadjuvant chemotherapy (NAC) combined with neoadjuvant targeted therapy. After the tumor load and size had significantly decreased, radical surgery was successfully performed under thoracoscopy. However, postoperative pathology revealed carcinosarcoma, pT2aN0M0, stage IB, and the pathological response was 50%. The present case report provides practical clinical evidence for the application of neoadjuvant targeted therapy combined with chemotherapy for locally advanced primary pulmonary carcinosarcoma with EGFR mutation.
Durable Leukemic Remission and Autologous Marrow Recovery with Random Chromosomal Abnormalities after Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Lymphocytic Leukemia
Authors: Hidekazu Nishikii, Naoki Kurita, Atsushi Shinagawa, Tatsuhiro Sakamoto, Manabu Kusakabe, Yasuhisa Yokoyama, Takayasu Kato, Mamiko Sakata-Yanagimoto, Naoshi Obara, Yuichi Hasegawa, Naoya Nakamura, Shigeru Chiba
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

A 38-year-old woman with aggressive clinical course of chronic lymphocytic leukemia (CLL) was treated with 8 courses of R-CHOP. Clinical remission was achieved, while B-cell clonality remained. Allogeneic hematopoietic stem cell transplantation was performed with reduced intensity conditioning (fludarabine and 2-Gy total body irradiation). However, autologous hematopoietic recovery occurred within a month after the transplant. Nevertheless, B-cell clonality became undetectable at 14 days after transplant, which has been kept so for over 10 years with clinical remission. Cytogenetic analyses were repeatedly performed and demonstrated nonclonal chromosomal aberrations, although the patient did not develop any secondary malignancies. One possible explanation for the clinical course is a very short-term allogeneic immune reaction helping eradication of residual CLL cells.
Superior Mesenteric Artery Syndrome Managed with Laparoscopic Duodenojejunostomy
Authors: Ahmed Sabry, Ramy Shaalan, Carl Kahlin, Ahmed Elhoofy
Journal: Minim Invasive Surg (2022)

Background:
Superior mesenteric artery (SMA) syndrome is a rare disorder that may be managed surgically if conservative management fails. Different surgical techniques have been described, division of the ligament of Treitz, gastrojejunostomy, and duodenojejunostomy. The aim of this case series is to show that laparoscopic duodenojejunostomy is a safe and technically feasible management for superior mesenteric artery syndrome.
Methods:
In this case series, we retrospectively identified all patients who underwent laparoscopic duodenojejunostomy for SMA syndrome in our tertiary university center between December 2016 and July 2019. Data collected included demographics, presenting symptoms, comorbidities, pre and postoperative body mass index (BMI), operative approach, operative blood loss, operative duration, clinical and radiological results, in hospital/30-day complications, mortality, and postoperative follow-up outcomes.
Results:
We identified eleven patients, 10 females and 1 male, with a median age 23 years (range 17-43 years). All patients had refractory symptoms after a minimum of two months of conservative management and subsequently underwent laparoscopic duodenojejunostomy. There were no intraoperative complications and no in-hospital or 30-day postoperative mortality or complications were identified. Follow-up data showed complete resolution in 73% of patients (n = 8) and only one patient with no improvement postoperatively. Results also showed a median BMI increase of 2 kg/m2 (range 1-9 kg/m2) at a median follow-up of 16 months (range 4-48 months).
Conclusion:
Laparoscopic duodenojejunostomy is a safe treatment option for SMA syndrome and should be considered when patients do not respond to conservative management.
Surgical treatment by partial petrosectomy for a middle-ear carcinoid with progressive extension: a case report and review of the literature
Authors: Mitsuhiro Aoki, Keisuke Mizuta, Natsuko Ueda, Nansei Yamada, Yatsuji Ito, Hiroki Kato, Yoshinobu Hirose
Journal: Int J Otolaryngol (2010)
MeSH terms: Case Reports

We herein report a 59-year-old male patient with a recurrent carcinoid tumor of the middle ear 7 years after a tympanomastoidectomy. The CT and dynamic MRI demonstrated an extensive tumor close to the carotid artery canal and the jugular bulb, and the tumor was removed by a partial petrosectomy with a transmastoid approach. The histopathological findings revealed a solid and trabecular tumor with cells positive for cytokeratin, chromogranin A, synaptophysin, and CD56. The MIB-1 antibody for the Ki-67 antigen was positive in 6.6% of the tumor cells. The relevant literature is reviewed in regard to the present case.