OpenMed/multicare-articles huggingface dataset:
Combined branch retinal artery and branch retinal vein occlusion from a globe penetrating nail gun injury
Authors: Bryon R McKay, James A Martin
Journal: GMS Ophthalmol Cases (2019)
Keywords: branch retinal artery occlusion, branch retinal vein occlusion, nail injury, open globe injury, retinal detachment, trauma
MeSH terms: Case Reports

Background: Nail gun injuries represent a significant proportion of work-related ocular trauma. Here we report a rare case of a combined branch retinal arterial occlusion (BRAO) and branch retinal venous occlusion (BRVO) from a nail gun injury in a patient who was wearing eye protection. Case description: A 23-year-old male presented with a left globe penetrating injury from a pneumatic nail gun. The nail ricochet bypassed the patient's protective eyewear, penetrating the left globe causing multiple retinal tears and a combined BRAO and BRVO in the inferior temporal vascular arcade. The patient underwent prompt surgical repair obtaining an excellent anatomic outcome. However, the visual outcome was 20/200 OS at one and two years post injury primarily due to extensive ischemic damage of the retina. Conclusion: This case is the first to describe a combined BRAO and BRVO from a globe penetrating injury. What makes this case even rarer is that the patient was wearing eye protection at the time of the injury. Despite appropriate emergency management, rapid referral for ophthalmologist assessment, and timely surgical management of this patient, the visual outcome was poor. The vascular injury ultimately compromised a significant segment of the retina, including the macula.
Bilateral Morning Glory Syndrome with Bilateral Persistent Fetal Vasculature in a Patient with Joubert's Syndrome
Authors: Ahmad Bilal Araissi, Alaa Fayed, Youssef Helmy
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Purpose. We report a case of a 1-year-old girl who was referred to us with a cerebellar anomaly and delayed growth and development for bilateral ptosis and poor fixation. Based on our ophthalmologic examination, we concluded that she has bilateral persistent fetal vasculature (PFV) with morning glory syndrome (MGS). A closer look into her neurologic condition revealed that she has Joubert's syndrome. Observations. External examination revealed bilateral symmetrical ptosis with syndromic facies and her fundus examination revealed a large dysplastic optic disc with anomalous radiating vessels and a fibrous tissue tuft originating from the disc. The left eye showed similar findings in addition to a central excavation and a fibrovascular stalk extending from the optic disc. These findings were consistent with bilateral MGS and bilateral PFV. The brain imaging included a computed tomography scan and magnetic resonance imaging, both of which revealed a "molar tooth appearance" of the midbrain and an anomalous cerebellum suggestive of Joubert's syndrome. Conclusions and Importance. This is the first case report of a case of bilateral MGS and bilateral PFV associated with Joubert's syndrome. This case report documents the associated optic nerve disease in these patients, not previously described, which are additive causes of visual compromise in addition to the brain insult.
Giant Isolated Omphalocele: Role of Prenatal Diagnosis in Prognostic Asessment and Perinatal Management
Authors: A M Cubo, M V Lapresa Alcalde, I Gastaca, M O Rodríguez-Martín, M C Martín Seisdedos, M V R Velasco Ayuso, R C Cebrián Muiños, J M Sayagués
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Omphalocele is a congenital malformation of the abdominal wall consisting of a protrusion of the abdominal contents at the base of the umbilical cord. It has a high association with genetic and structural defects; however, if the latter is ruled out, its prognosis improves significantly. Prenatal diagnosis has a key role in this condition as omphalocele can be diagnosed by ultrasound in the first trimester scan, enabling a coordinated approach strategy to achieve the best perinatal results. We present a case report of a pregnant patient with a fetus having a giant omphalocele in which prenatal diagnosis played a decisive role, allowing the coordination of a multidisciplinary team, which was crucial in the immediate care of the newborn.
An Unusual Cardiac Cause of Unilateral Neonatal Wheezing
Authors: James Brock, Eliezer Nussbaum, Jared Shows, Son Nguyen, Shaun P Setty
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

A neonate presented three days after birth with left-sided unilateral inspiratory wheezing, intermittent respiratory distress, and desaturations. She was found to have a large ductus arteriosus aneurysm that caused compression of her left mainstem bronchus and left pulmonary artery. This lesion was not identified prior to birth on routine prenatal screening, which included fetal ultrasonography. Diagnosis was made on day of life (DOL) 5 by a computed tomography with angiography scan. On DOL 7, she underwent cardiac surgery which included resection of the ductal aneurysm, patch reconstruction of the transverse aortic arch and descending aorta, patent ductus arteriosus excision, and atrial secundum septal defect repair. There were no postoperative complications, and she has been asymptomatic since.
Cutaneous neuroendocrine carcinoma of the external auditory canal: a case report and review of the literature
Authors: Yi-Ke Li, Fang-Lu Chi, Shu-Yi Wang, Wu-Qing Wang, Juan-Mei Yang, Yi-Bo Huang
Journal: Case Rep Otolaryngol (2012)

Cutaneous neuroendocrine carcinoma (cNEC) is rarely seen in the external ear. In this paper, we newly describe a patient with cNEC in his right external auditory canal, followed by a further discussion on the clinical features, diagnosis, and treatments of cNEC of the external ear. A review of the literature showed that cNEC of the external auditory canal generally presents as asymptomatic and that pathology yields the most confirmative diagnosis. A wide resection with adjuvant radiotherapy and chemotherapy is recommended. The overall prognosis of this condition is poor.
Imaging findings of primary hepatic carcinoid tumor with an emphasis on MR imaging: case study
Authors: Makoto Ichiki, Norifumi Nishida, Akira Furukawa, Shuzo Kanasaki, Shinichi Ohta, Yukio Miki
Journal: Springerplus (2014)
Keywords: carcinoid, liver, magnetic resonance imaging

Carcinoid tumors are slow-growing tumors originating in the neuroendocrine cells, and occur most frequently within the gastrointestinal tract. Although the liver is the most common site for metastatic carcinoid tumors, primary hepatic carcinoid tumors are exceedingly rare and reports of the imaging findings have been very scarce. We herein report imaging findings with an emphasis on magnetic resonance imaging in two cases of primary hepatic carcinoid tumors. In both cases, the tumors showed cystic areas with hemorrhagic components and early enhanced solid areas.
Multiple primary malignant neoplasm: Case report and comprehensive literature review
Authors: Xue-Yan Ma, Kun Tian, Peng-Fei Sun
Journal: Front Oncol (2023)
Keywords: kras germline mutations, ngs, literature review, multiple primary tumors, systemic therapy
MeSH terms: Case Reports

Multiple primary tumors, especially quadruple primary tumors, are extremely rare clinically, and there is no standard protocol for clinical management. We described a case in which a bone tumor, a malignant bladder tumor, a malignant melanoma, and an intrahepatic cholangiocarcinoma were all original malignancies. The patient is a 79-year-old woman who underwent surgery for a left middle finger bone tumor 45 years ago, as well as surgery for bladder malignancy and postoperative adjuvant chemotherapy 15 years ago, and the precise pathological results and treatment are unclear. One year ago, she underwent amputation of the toe due to a black mass of the right toe and was diagnosed pathologically as a freckled malignant melanoma of the extremity. Prior to postoperative adjuvant systemic medication, PET/CT revealed malignancy in the lateral segment of the left lobe of the liver, and multiple lymphadenopathies in the left parotid gland, hilar hepatic, and retroperitoneal region. Intrahepatic cholangiocarcinoma was found in the liver puncture biopsy's pathology report. The serum sample's next-generation sequencing (NGS) revealed a missense mutation, designated P.G12V, in exon 2 of the KRAS gene. Based on patients with malignant melanoma and intrahepatic cholangiocarcinoma, she received 6 cycles of GP (gemcitabine/cisplatin) combined with Camrelizumab systemic therapy, and followed by 3 cycles of Camrelizumab maintenance therapy, the efficacy was evaluated as stable disease (SD) during treatment. When the 4th cycle of Camrelizumab was suggested for maintenance therapy, the efficacy evaluation revealed that the tumor had greatly advanced. The patient refused to continue anti-tumor therapy and passed away from septic shock and multiple organ failure 3 months later. The patient had satisfactory efficacy and lived for a year after being diagnosed with two primary cancers. Despite the rarity of quadruple primary tumors and the lack of a conventional clinical management strategy, we postulate that germline mutations in the KRAS gene may be closely associated with the formation and development of multiple primary tumors. NGS testing is necessary for clinical management, and systemic treatment based on concurrent multiple main tumors is the key to improving prognosis.
Volar Dislocation of Second, Third and Fourth Carpometacarpal Joints in Association with a Bennet's Fracture of the Thumb Carpo-Metacarpal Dislocation: A Case Report
Authors: Pierluigi Di Felice Ardente, Joan Camí Biayna, Jordi Saus Sarrias, Antoni Nuñez Muñoz, Guillem Figueras Coll, Patricio Vergara
Journal: Open Orthop J (2017)
Keywords: bennet’s fracture, carpometacarpal joint, dislocation, emergency, volar, wound

Injuries of the carpometacarpal joints of the long fingers are infrequent and go often unnoticed if a thorough clinical exploration and complete radiological assessment is not carried out. The overall frequency of carpometacarpal joints injuries is of 1-2% among trauma of the wrist and the carpus. These are normally secondary to high energy trauma (such as a car or a motorbike accidents). Among these kinds of injuries, the volar dislocation of the metacarpals is much less frequent than the dorsal dislocation, being even rarer the cases in which the three middle metacarpals are involved. In this case report, we present a case of volar dislocation of the middle three carpometacarpal joints in association with a Bennet's fracture of the thumb in a 30-year-old male. He was treated in the operating room with reduction and stabilization using Kirschner wires, which allowed a satisfactory recovery of the mobility of the fingers eight weeks after the intervention. It is important to produce an admission diagnosis of this kind of injuries to be able to treat them immediately. Treatment must be performed quickly to reduce and stabilize the dislocation, since this will avoid the vasculo-nervous compression or the edema which increases cutaneous suffering and the risk of complications.
Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)
Authors: Yan Yu, Zhao Zeng, Jundan Xie, Qiongyu Lu, Wenzhi Cai, Ruixi Zhang, Jinlan Pan, Yun Zhao, Aining Sun, Huiying Qiu, Suning Chen
Journal: Front Oncol (2021)
Keywords: bcr/abl, mpal, pax5, ube2d4, dic(7, 9)
MeSH terms: Case Reports

PAX5 plays a critical role in B-cell precursor development and is involved in various chromosomal translocations that involve the fusion of a portion of PAX5 to at least 49 different partners reported to date. Here, we identified a novel PAX5 fusion transcript in a Ph-positive mixed phenotype acute leukemia case with dic(7;9)(q13;q13), in which a translocation juxtaposes the 5' region of PAX5 and the ubiquitin-conjugating enzyme E2D4 (UBE2D4) to generate a PAX5-UBE2D4 fusion gene. To further explore the general characteristics and function of PAX5-UBE2D4, we cloned the full-length cDNA, which was amplified from the bone marrow of the patient. Interestingly, the fusion was located in the nucleus and negatively affected PAX5 transcription activity. Importantly, the fusion promoted tumor growth in nude mice and the proliferation of NIH3T3 cells in vitro. In conclusion, the fusion resulted in partial oncogenic activity, in contrast to the tumor suppressor activity of wild-type PAX5.
Thyroid-induced worsening of parkinsonian tremor resistant to drugs and subthalamic nucleus deep brain stimulation
Authors: Michal Minár, Peter Valkovič
Journal: Case Rep Neurol Med (2014)

Introduction. Symptoms of both hypothyroidism and thyrotoxicosis can be easily overlooked in patients with Parkinson's disease (PD). We report on a patient whose parkinsonian tremor worsened and proved refractory not only to common treatment, but also to deep brain stimulation (DBS). Case Presentation. A 61-year-old woman with advanced PD underwent bilateral subthalamic DBS, with an excellent outcome. Twenty-one months after the surgery, however, patient's resting/postural tremor markedly worsened. There was a slight improvement for 1 month after repeated adjustments of DBS parameters, but then the tremor worsened again. Since even a minimal increase of the dose of dopaminergic drugs caused extremely severe dyskinesias, an anticholinergic drug biperiden and benzodiazepine clonazepam were introduced, what helped for another month. With the onset of severe diarrhoea, a laboratory workup was performed. Thyrotoxicosis was detected. During treatment with the antithyroid agent carbimazole, the parkinsonian tremor clearly improved within two weeks. Conclusion. A hyperthyroid state can markedly exaggerate all forms of tremor, as well as other types of movement disorders. This condition can be overlooked or masked by other symptoms. Therefore, if the tremor in a patient with PD gradually worsens and proves resistant to the usual treatment, examine the thyroid gland.
Emerging biomarkers in metastatic urothelial carcinoma: tumour mutational burden, PD-L1 expression and APOBEC polypeptide-like signature in a patient with complete response to anti-programmed cell death protein-1 inhibitor
Authors: Marcello Moro Queiroz, Zenaide Silva de Souza, Aline Bobato Lara Gongora, Felipe de Galiza Barbosa, Carlos Alberto Buchpiguel, Marilia Germanos de Castro, Mariana Petaccia de Macedo, Rafael Ferreira Coelho, Ethan Samuel Sokol, Anamaria Aranha Camargo, Diogo Assed Bastos
Journal: Ecancermedicalscience (2021)
Keywords: pd-l1, biomarkers, bladder cancer, immunotherapy, metastatic, tumour mutational burden
MeSH terms: Case Reports

Immunotherapy has recently been incorporated into the treatment guidelines for metastatic urothelial carcinoma. Nevertheless, the role of prognostic and predictive biomarkers in this setting is not completely defined. To date, PD-L1 expression and a high tumour mutational burden (TMB) seem to predict better responses to immune checkpoint inhibitors, but patients without these biomarkers may still respond to immunotherapy. There are some caveats regarding these biomarkers, such as lack of standardisation of techniques, tumour heterogeneity and other factors influencing the tumour microenvironment. Genomic signatures are other promising emerging strategies. We hereby discuss the management of a 70-year-old man with a metastatic recurrence of urothelial carcinoma within 1 year after neoadjuvant chemotherapy and radical cystectomy. Tumour next-generation sequencing showed a high TMB and a CD274 (PD-L1) amplification. The patient was treated with pembrolizumab and achieved a complete response.
Case Report: Suspected Case of Brucella-Associated Immune Reconstitution Inflammatory Syndrome
Authors: Chunmei Qu, Nannan Xu, Dehong Niu, Sai Wen, Hui Yang, Shanshan Wang, Gang Wang
Journal: Front Immunol (2022)
Keywords: iris, case report, human brucellosis, immune reconstitution, infection
MeSH terms: Brucella, Brucellosis / complications, Brucellosis / diagnosis, Brucellosis / drug therapy, Immune Reconstitution Inflammatory Syndrome / diagnosis, Immune Reconstitution Inflammatory Syndrome / drug therapy, Immune Reconstitution Inflammatory Syndrome / etiology, Mycobacterium tuberculosis, Case Reports, Abscess / pathology, Adult, Humans, Male

Human brucellosis is one of the most prevalent zoonoses. There are many similarities between the pathogenesis of Mycobacterium tuberculosis (MTB) infection and that of brucellosis. Immune reconstitution inflammatory syndrome (IRIS) may occur during the treatment of MTB infection, but it has not been reported in brucellosis cases thus far. We report the case of a 40-year-old male whose condition initially improved after adequate anti-Brucella therapy. However, 3 weeks later, the patient presented with exacerbation of symptoms and development of a paravertebral abscess. After exclusion of other possible causes of clinical deterioration, immune reconstitution inflammatory syndrome (IRIS) with brucellosis was presumed. After supplementation with anti-Brucella treatment with corticosteroids, the abscess disappeared, and the symptoms completely resolved. Our case suggests that it is necessary to be aware of the possible occurrence of IRIS in patients with brucellosis in clinical practice.
Resection of Primary Renal Leiomyosarcoma Involving the Inferior Vena Cava (IVC) with IVC Resection and Reconstruction
Authors: Khaled Alshawwa, Jamal Hijazi, Bashar Jaber, Haitham AlHassan, Thaer Abu-Amer, Riyad Salahaldeen, Omar Abu-Zaydeh, Riad Haddad
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Renal leiomyosarcoma is a rare, aggressive tumor of the smooth muscles of the kidney. In our case, the tumor has special characteristics that made it highly challenging, as it involved major vessels and other adjacent vital structures. The rarity of the tumor type itself and the special challenging features we faced intraoperatively encouraged us to report the case including the management plan for R0 resection. Our patient is a forty-two years old previously healthy female, with vague nonspecific presenting complains, ended up with a major highly advanced surgery necessitating the need for vascular reconstruction of IVC. The surgery was performed by a multidisciplinary team of highly specialized surgeons in related fields. The surgery went well, and the outcome was promising. The patient was followed up for about four months later, with uneventful course.
A Rare Anatomical Variation of the Termination of Right and Left Cephalic Veins
Authors: Raymond Saa-Eru Maalman, Yaw Otchere Donkor, Ali M Ayamba, Jubilant Kwame Abledu
Journal: Case Rep Vasc Med (2018)
MeSH terms: Case Reports

Clinically, the cephalic vein is preferred for haemodialysis in patients with chronic renal failure (CRF), to remove waste products from blood. The cut-down of cephalic vein in the deltopectoral groove is preferred when superior vena caval infusion is necessary. However, cephalic veins exhibit a wide array of developmental variations in terms of formation, course, and termination. In this report, we describe a case of an anomalous cephalic vein with a bifid course of terminations on both left and right upper limbs which has not been described by the previous literature [corrected]. During routine gross anatomy dissection of the neck, we observed a rare case of variation of the termination of the cephalic vein in both right and left upper limbs, of a male cadaver. Knowledge of the variations of cephalic vein is important not only for anatomists but also for surgeons and clinicians as the vein is frequently used for different surgical procedures and for obtaining peripheral venous access as well.
Massive hemoptysis bridged with VV ECMO: A case report
Authors: Dylan Ryan, Kathleen Miller, Carly Capaldi, Claudine Pasquarello, Qiong Yang, Hitoshi Hirose
Journal: Front Cardiovasc Med (2022)
Keywords: ecmo, st-elevation myocardial infarction (stemi), hemoptysis, respiratory failure, ventilator
MeSH terms: Case Reports

Objective:
Extracorporeal membrane oxygenation (ECMO) can provide full pulmonary support when a patient is completely apneic. The combination of veno-venous (VV) ECMO and induced apnea can be utilized to control significant hemoptysis. We present a case of massive hemoptysis that developed while on VV ECMO and was treated with temporary discontinuation of the ventilator and serial declotting bronchoscopies.
Methods:
A 42-year-old male with recent acute ST elevation myocardial infarction status post cardiac stent developed aspiration pneumonia that progressed to acute respiratory distress syndrome. The patient's biventricular function was preserved. VV ECMO was placed for lung rescue on hospital day #7, and tracheostomy was performed for ventilator dependence on hospital day #12. On hospital day #18, the patient developed significant hemoptysis despite the discontinuation of anticoagulation. Bronchoscopy revealed massive bleeding from bilateral bronchi. To facilitate tamponade within the tracheobronchial tree, the ventilator was temporarily discontinued while VV ECMO provided full respiratory support. After 48 h, mechanical ventilation was resumed, and daily bronchoscopies were performed to remove clots from both bronchi until a chest x-ray showed improvement in bilateral opacifications. Bronchoscopy was performed a total of 14 times. There was no recurrence of bronchial bleeding, the patient's respiratory status improved, and VV ECMO was weaned off on hospital day #37. The patient was transferred to a long-term rehabilitation facility 36 days after successful VV ECMO decannulation on hospital day #73.
Conclusions:
This patient's survival of massive hemoptysis was facilitated largely by the utilization of serial declotting bronchoscopies with VV ECMO providing full pulmonary support during temporary discontinuation of mechanical ventilation.
An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma
Authors: Prajwal Boddu, C Cameron Yin, Rashmi Kanagal-Shamanna, Guillin Tang, Beenu Thakral, Tapan Kadia, Marina Konopleva, Elias Jabbour, Nitin Jain
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

While rare, cases of isolated extramedullary disease of B-cell Lymphoblastic Lymphoma (B-LBL) without morphologic bone marrow involvement have been described. In this report, we illustrate the case of an elderly gentleman who presented with isolated testicular and vertebral LBL involvement but had no morphologic bone marrow involvement. The initial plan of treatment was to treat along the lines of Philadelphia negative B-ALL/LBL. During this time, fluorescence in situ hybridization (FISH) and PCR testing for BCR-ABL1 rearrangements were being performed on the marrow specimens as a part of routine diagnostic workup. While the FISH returned negative, PCR testing unexpectedly detected BCR-ABL1 fusion transcripts at a low level of 0.48%. Given their presence, we performed FISH for BCR/ABL1 rearrangement in both testicular and L5 vertebral specimens which were 80-90% positive. He subsequently received rituximab, hyper-CVAD, and dasatinib, along with prophylactic intrathecal prophylactic chemotherapy. The patient achieved a prolonged remission but eventually relapsed, 4 years later. Had it not been for this fortuitous discovery, the patient would not have been treated with tyrosine kinase inhibitors. We emphasize that FISH and PCR testing for BCR-ABL1 rearrangement are integral to arriving at an accurate diagnosis and should be routinely tested on B-LBL biopsy specimens.