OpenMed/multicare-articles huggingface dataset:
Immune thrombocytopenia associated with lymph node tuberculosis: a case report
Authors: Juliano Córdova Vargas, Patrícia Nunes Bezerra, Murilo Sequeira, Gabriella Haydée de Oliveira, Carlos Eduardo Pegolo, Lucas Fiore, Nelson Hamerschlak, Paulo Roberto Abrão Ferreira
Journal: Rev Soc Bras Med Trop (2023)
MeSH terms: Purpura, Thrombocytopenic, Idiopathic / complications, Purpura, Thrombocytopenic, Idiopathic / drug therapy, Thrombocytopenia, Tuberculosis, Lymph Node / complications, Tuberculosis, Lymph Node / drug therapy, Case Reports, Adult, Antitubercular Agents / therapeutic use, Humans, Isoniazid, Male, Platelet Count, Antitubercular Agents, Isoniazid

Extrapulmonary tuberculosis associated with immune thrombocytopenia (ITP) is extremely rare. A likely association between ITP and pulmonary and lymph node tuberculosis was reported in a 29-year-old male patient. His platelet count decreased to 4,000/µL. Chest tomography revealed mediastinal adenomegaly, lymph node clusters in the aorta, and consolidation in the left upper lung lobe. Immunoglobulin and methylprednisolone were administered intravenously. The histopathology of the left upper lung lobe confirmed tuberculosis. The rifampicin/isoniazid/pyrazinamide/ethambutol regimen was initiated, and the corticosteroids were tapered off. This case suggests an association of tuberculosis with ITP, since the platelet count effectively normalized after tuberculosis treatment.
Case Report: Therapeutic Response to Chemo-Immunotherapy in an Advanced Large Cell Lung Carcinoma Patient With Low Values of Multiple Predictive Biomarkers
Authors: Guihua Wang, Qin Chai, Yajie Xiao, Wenying Peng, Miao Teng, Jingyi Wang, Hanqing Lin, Xiaofan Su, Lin Wu
Journal: Front Immunol (2021)
Keywords: cd8(+) tumor-infiltrating lymphocytes, pd-l1 expression, chemo-immunotherapy, large cell lung carcinoma, predictive biomarker, tumor mutational burden
MeSH terms: Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, B7-H1 Antigen / antagonists & inhibitors, CD8-Positive T-Lymphocytes / drug effects, Carcinoma, Large Cell / drug therapy, Immune Checkpoint Inhibitors / therapeutic use, Lung Neoplasms / drug therapy, Lymphocytes, Tumor-Infiltrating / drug effects, Case Reports, Research Support, Non-U.S. Gov't, Adult, B7-H1 Antigen / metabolism, CD8-Positive T-Lymphocytes / immunology, CD8-Positive T-Lymphocytes / metabolism, Carcinoma, Large Cell / immunology, Carcinoma, Large Cell / metabolism, Carcinoma, Large Cell / pathology, Cisplatin / therapeutic use, Humans, Lung Neoplasms / immunology, Lung Neoplasms / metabolism, Lung Neoplasms / pathology, Lymphocytes, Tumor-Infiltrating / immunology, Lymphocytes, Tumor-Infiltrating / metabolism, Male, Paclitaxel / therapeutic use, Remission Induction, Treatment Outcome, Tumor Microenvironment, Antibodies, Monoclonal, Humanized, B7-H1 Antigen, CD274 protein, human, Immune Checkpoint Inhibitors, pembrolizumab, Paclitaxel, Cisplatin

Immune checkpoint inhibitors have revolutionized the treatments of lung cancers, and multiple predictive biomarkers alone or in combination help clinicians with the appropriate therapeutic selections. Recently, chemo-immunotherapy has been recommended for treating advanced non-small cell lung cancers in patients without driver mutations. However, the clinical relevance of predictive biomarkers and the treatment efficacy of chemo-immunotherapy in large cell lung carcinoma (LCLC) remain unclear. Here, we reported a rare case of LCLC with none driver gene mutations and low values of multiple predictive biomarkers. These biomarkers included a low PD-L1 expression of 5-10%, a low tumor mutational burden (TMB) of 2.5 muts/mb, a low CD8(+) tumor-infiltrating lymphocyte density of 147.91 psc/mm². After one-cycle chemotherapy, the patient progressed rapidly and then was switched to pembrolizumab combining paclitaxel plus cisplatin. Interestingly, he achieved a partial response after two cycles of chemo-immunotherapy, showing multiple lymph nodes obviously shrunk on CT scan, and other clinical symptoms were relieved when compared with the baseline findings. After five cycles of chemo-immunotherapy, this advanced patient still benefited and was changed to maintenance immunotherapy monotherapy. This case suggests that chemo-immunotherapy may provide an effective therapeutic option for those LCLC patients with low values of multiple predictive biomarkers, particularly for those who progressed from first-line classical treatments.
Enhanced Eye Velocity With Backup Saccades in vHIT Tests of a Menière Disease Patient: A Case Report
Authors: Maria Montserrat Soriano-Reixach, Jorge Rey-Martinez, Xabier Altuna, Ian Curthoys
Journal: Front Surg (2021)
Keywords: meniere's disease, vor (vestibulo-ocular reflex), backup saccades, case report, endolymphatic hydrops, enhanced eye velocity, vhit
MeSH terms: Case Reports

Reduced eye velocity and overt or covert compensatory saccades during horizontal head impulse testing are the signs of reduced vestibular function. However, here we report the unusual case of a patient who had enhanced eye velocity during horizontal head impulses followed by a corrective saccade. We term this saccade a "backup saccade" because it acts to compensate for the gaze position error caused by the enhanced velocity (and enhanced VOR gain) and acts to return gaze directly to the fixation target as shown by eye position records. We distinguish backup saccades from overt or covert compensatory saccades or the anticompensatory quick eye movement (ACQEM) of Heuberger et al. (1) ACQEMs are anticompensatory in that they are in the same direction as head velocity and so, act to take gaze off the target and thus require later compensatory (overt) saccades to return gaze to the target. Neither of these responses were found in this patient. The patient here was diagnosed with unilateral definite Meniere's disease (MD) on the right and had enhanced VOR (gain of 1.17) for rightward head impulses followed by backup saccades. For leftwards head impulses eye velocity and VOR gain were in the normal range (VOR gain of 0.89). As further confirmation, testing with 1.84 Hz horizontal sinusoidal head movements in the visual-vestibular (VVOR) paradigm also showed these backup saccades for rightwards head turns but normal slow phase eye velocity responses without backup saccades for leftwards had turns. This evidence shows that backup saccades can be observed in some MD patients who show enhanced eye velocity responses during vHIT and that these backup saccades act to correct for gaze position error caused by the enhanced eye velocity during the head impulse and so have a compensatory effect on gaze stabilization.
The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis
Authors: Alessia Pagnotta, Giorgio Antonietti, Iakov Molayem
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Posttraumatic radioulnar synostosis (RUS) is a rare event following forearm fractures. Consequences are disabling for patients who suffer from functional limitation in forearm pronosupination. Distal RUS are even more rare and more difficult to treat because of high recurrence rates. The patient we describe in this paper came to our attention with a double distal RUS recurrence and a Darrach procedure already performed. We performed a radical excision of RUS and interposition with a vascularized dorsoulnar artery (DUA) adipofascial perforator flap. Four years after surgery, the patient shows the same complete range of motion in pronosupination, and MRI confirms that the flap is still in place with signs of vascularization. Simple synostosis excision has been proven ineffective in many cases. Interposition is recommended after excision, and biological material interposition seems to be more effective than foreign material. Surgeons are increasingly performing vascularized interposition, and the results are very encouraging.
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
Authors: Eunice Matoso, Fabiana Ramos, José Ferrão, Luís M Pires, Alexandra Mascarenhas, Joana B Melo, Isabel M Carreira
Journal: Mol Cytogenet (2014)
Keywords: 4p163 deletion, cartilage formation, developmental delay, fgfrl1 gene, language impairment
MeSH terms: Case Reports

We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.
Case Report: Family Curse: An SCN5A Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia
Authors: Wen Huang, Rui Xu, Ning Gao, Xia Wu, Cong Wen
Journal: Front Cardiovasc Med (2022)
Keywords: prkag2, scn5a, dilated cardiomyopathy, familial case report, sudden cardiac death
MeSH terms: Case Reports

Objective:
We report a 3-generation family with SCN5A c.611 C>A rare variant, whose clinical characteristics are dilated cardiomyopathy (DCM) combined with multifocal ectopic Purkinje-related premature contractions (MEPPC). We tried to explain why the same SCN5A variant carriers had different phenotypes.
Methods:
We collected the clinical data from the family, and followed up this family members. Genetic testing was done for whom DNA samples could be collected.
Results:
Information was collected from 15 people in this family, 8 of whom had genetic testing. The SCN5A variant was present in all patients of this family, whose clinical features showed DCM combined with MEPPC. The proband's children developed DCM and MEPPC in their childhood. They both carried a SCN5A p.A204E mutation from their mother and a mutation PRKAG2 p.D372N from their father. The son did heart transplant and his heart was both dilated and thickened. The pathology confirmed the presence of glycogen accumulation in the myocardium, which were consistent with the diagnosis of PAKAG2 syndrome.
Conclusion:
SCN5A c.611 C>A variant was related to DCM combined with MEPPC. This case report is the first to demonstrate that a combination of SCN5A and PRKAG2 mutations can cause DCM plus MEPPC and PRKAG2 Syndrome.
Unusually large paraganglioma complicated with successive catecholamine crises: A case report and review of the literature
Authors: Zhenhui Huang, Guojian Liang, Hua Shen, Chuyuan Hong, Xuexia Yin, Shi Zhang
Journal: Front Surg (2022)
Keywords: acute heart failure, catecholamine crisis, extra-adrenal pheochromocytoma, neuroendocrine tumor, paraganglioma, retro-peritoneal tumor
MeSH terms: Case Reports

Background:
Paragangliomas are rare neuroendocrine tumors that could secret catecholamines. Hypertension and heart failure caused by the catecholamine crisis are fatal cardiovascular events. However, silent paragangliomas that lack typical symptoms of catecholamine pose a significant diagnostic challenge.
Case summary:
A 45-year-old woman who presented with more than 1-year history of abdominal discomfort was suspected of having a gastrointestinal stromal tumor by a local hospital since a vast metastatic mass occupied her left abdomen. Thus, she was recommended to our hospital. After completing the gastroscopy, she unexpectedly developed acute heart failure and was transferred to the Intensive Care Unit (ICU) where the initial diagnosis of paraganglioma was considered through path. However, a second catecholamine crisis due to constipation led to acute heart failure again. After anti-heart failure therapy and rigorous preoperative preparation, surgery was arranged to remove the tumor. Postoperative pathology conﬁrmed the paraganglioma, and the patient was discharged from the hospital in good condition.
Conclusion:
We reported a rare case of huge retro-peritoneal paraganglioma with successive catecholamine crises and acute heart failure. This was probably the largest retro-peritoneal paraganglioma since the 1980s. Besides, we were the first to use surgical drawing to illustrate its complex anatomical adjacent relationship of retro-peritoneal paraganglioma. Our case emphasizes the inclusion of extra-adrenal paraganglioma in the differential diagnosis of retroperitoneal tumors. In suspected paragangliomas, catecholamine testing is preferable to invasive procedures including gastroscopy and biopsy to avoid triggering a catecholamine crisis. Surgical resection is the primary treatment. We highlight the priority of dealing with the venous reflux branches of the tumor to prevent the release of catecholamines into the blood. In particular, preoperative preparation plays a vital role in managing paraganglioma. Moreover, it is necessary to schedule genetic testing and clinical follow-up due to the metastatic potential of paragangliomas.
Cleidocranial dysostosis: a case report with clinical illustration
Authors: Vanesa Villamil, Ramón Ruiz Pruneda, María Fernández Ibieta, César Salcedo Cánovas
Journal: Pan Afr Med J (2021)
Keywords: cleidocranial dysostosis, case report, cleidocranial dysplasia, supernumerary teeth, wormian bones
MeSH terms: Cleidocranial Dysplasia / therapy, Dental Care / methods, Orthopedic Procedures / methods, Case Reports, Child, Cleidocranial Dysplasia / diagnostic imaging, Female, Humans, Radiography, Thoracic

Cleidocranial Dysostosis or Dysplasia (CCD) is an infrequent clinical condition, with an autosomal dominant hereditary mode of inheritance. Triad lesions: multiple supernumerary teeth, partial or complete absence of the clavicles and open sagittal sutures and fontanelles. Nine-year-old female patient comes to our service for outpatient consultation with the main complaint of upper limbs mobility restriction with shoulders hypermotility. The chest X-ray showed partial absence of the clavicles and a cone-shaped thorax. The diagnosis of CCD was performed. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.
Proximal tibial reconstruction with auto transplantation of the fibular growth plate: two case reports, describing the surgical technique
Authors: Pedro Péricles Ribeiro Baptista, Cassiano Leão Bannwart, Felipe Augusto Ribeiro Batista, Davi Gabriel Bellan
Journal: Springerplus (2016)
Keywords: device, fibula, fixation, growth, physis, sarcoma, sliding, tibialization, transplant

Introduction:
Tumors of the proximal tibia, in children, can affect the growth plate and pose a challenge to further reconstruction of the bone defects resulting from tumor resection. Reconstruction methods do not always compensate the potential for bone growth in this segment. We present a new surgical technique of bone reconstruction, based on the transposition of the ipsilateral fibula with its growth plate and the use of an internal sliding fixation device, without need for microsurgical technique.
Case description:
We report two patients with osteosarcoma of the proximal tibia affecting the growth cartilage who were treated with the new technique.
Discussion and evaluation:
In both cases, bone healing, hypertrophy and longitudinal growth of the transposed fibula were documented.
Conclusions:
This new technique preserves the blood supply of the auto-transplanted bone segment, maintaining physeal growth potential, with no need for microsurgery. The implant allows longitudinal bone growth, which was radiographically confirmed.
Level of evidence:
Case report, Level IV.
Large-Sized Bilateral Atherosclerotic Axillary Artery Aneurysms: A Case Report
Authors: Aysegul Idil Soylu, Ahmet Veysel Polat
Journal: J Belg Soc Radiol (2016)
Keywords: atherosclerosis, giant axillary artery aneurysm

Axillary artery aneurysms are most commonly caused by trauma, while atraumatic cases are very rare. Atherosclerosis, collagen tissue diseases, and mycotic infections are additional etiological factors for this type of aneurysms. Once developed, an aneurysm poses risk for hand ischemia or neurologic complications due to embolic events and neural compression. Due to this, diagnosis and treatment of an aneurysm are crucial. We report a case of giant bilateral axillary artery aneurysms developed as a consequence of atherosclerosis.
Congenital upper eyelids ectropion in Down's syndrome
Authors: Rafael Corredor-Osorio, José Luis Tovilla-Pomar, José Luis Tovilla-Canales
Journal: GMS Ophthalmol Cases (2017)
Keywords: down’s syndrome, congenital ectropion, eyelid, skin grafts
MeSH terms: Case Reports

Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down's syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down's syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.
Placenta percreta invading broad ligament and parametrium in a woman with two previous cesarean sections: a case report
Authors: Mansoureh Vahdat, Abolfazl Mehdizadeh, Elaheh Sariri, Shahla Chaichian, Zahra Najmi, Maryam Kadivar
Journal: Case Rep Obstet Gynecol (2012)

Introduction. The incidence of placenta accreta has dramatically increased due to increasing caesarean section rate all over the world. Placenta percreta is the most severe form of placenta accretes. It frequently results in maternal morbidity and mortality mainly caused by massive obstetric hemorrhage or emergency hysterectomy. Percreta invading into the broad ligament has rarely been previously reported. Case presenting. We presented a case of placenta percreta invading left broad ligament and parametrium in a woman with two previous cesarean sections, which led to massive intraoperative hemorrhage during hysterectomy and transient ischemic encephalopathy. Conclusion. In cases of parametrial involvement, it would be more difficult to decide whether to remove placenta or leave it in site. In surgical removal neither local excision of placental bed and uterine repair nor traditional hysterectomy is adequate if parametrium invaded by placenta. We suggest delayed elective hysterectomy in such cases. So, pregnancy-induced pelvic congestion would be decreased, we can gather an expert team of gynecologists, urologists, and vascular surgeons, we could get plenty of blood products, and we may have the chance to administer methotrexate.
Extranodal natural killer/T-cell lymphoma presenting as orbital cellulitis
Authors: Hanis Zuhaimy, Hayati Abdul Aziz, Suresh Vasudevan, Siah Hui Hui
Journal: GMS Ophthalmol Cases (2017)
Keywords: extranodal nk/t cell lymphoma, orbital cellulitis, sinusitis
MeSH terms: Case Reports

Objective: To report an aggressive case of extranodal natural killer/T-cell lymphoma (NKTCL) of the ethmoid sinus presenting as orbital cellulitis Method: Case report Results: A 56-year-old male presented with right eye redness, reduced vision, and periorbital swelling for 5 weeks duration associated with a two-month history of blocked nose. The visual acuity of the right eye was 6/18. The eye was proptosed with periorbital oedema and conjunctival chemosis. The pupil was mid-dilated but there was no relative afferent pupillary defect. The fundus was normal. The extraocular movements were restricted in all directions of gaze. Nasal endoscopy revealed pansinusitis that corresponded with CT scan orbit and paranasal sinuses findings. Despite treatment, he showed no clinical improvement. Ethmoidal sinus biopsies performed revealed extranodal NKTCL. Further imaging showed involvement of the right orbital contents and its adnexa with intracranial extension into the right cavernous sinus and meninges over right temporal fossa. The patient underwent chemotherapy. However he succumbed to his illness two months after the diagnosis. Conclusion: Extranodal NKTCL is a great mimicker. This case demonstrated how an acute initial presentation of extranodal NKTCL can present as orbital cellulitis with pansinusitis.
Undifferentiated Endometrial Sarcoma of the Ovary: A Case Report with Review of Recent Literature and Discussion of Lacking Specificity of CD10 Immunoreactivity
Authors: Hermann Brustmann, Ingrid M Geiss, Susanne Hinterholzer
Journal: Patholog Res Int (2010)
MeSH terms: Case Reports

Undifferentiated endometrial sarcomas (UESs) of the ovary are very rare tumors. This paper presents a case of a 56-year-old patient with a history of hysterectomy and bilateral salpingectomy seven years ago for uterine leiomyomata. Intraoperatively, a tumor originating from the left ovary, adherent to the sigmoid colon, with infiltration of the small intestine and the vaginal apex was found. Histologically, the tumor was composed of pleomorphic round and oval to spindled cells with polymorphous vesicular nuclei with coarse chromatin and large nucleoli. Mitotic activity was brisk. There were large necrotic areas. Adjacent to the tumor tissue endometrium-like glands surrounded by fibrous stroma with macrophages corresponding to ovarian endometriosis were noted. Tumor cells showed diffuse strong immunoreactivity for vimentin and patchy strong staining for CD10; no reactivities were found for AE1/AE3, desmin, S-100, LCA, CD20, c-kit, and CD31. The patient died of her neoplastic disease four months postoperatively. CD10 is frequently expressed in different gynecopathological as well as other lesions, and, thus, nonspecific without relevance to the classification of this case. Morphological features, extensive sampling, and appropriate immunohistochemistry including markers for cytokeratins and myogenic differentiation are mandatory to arrive at the correct diagnosis.
Point-of-Care Ultrasound to Detect Dilated Coronary Sinus in Adults
Authors: Zouheir I Bitar, Mohamad Abdelfatah, Ossama Sajeh Maadarani, Muath Alanbaei, Rashed Juma Al Hamdan
Journal: POCUS J (2022)
Keywords: arrhythmia, echocardiography
MeSH terms: Case Reports

Detecting dilated coronary sinus when assessing patients in an acute emergency with point-of-care ultrasound (POCUS) is important for differential diagnosis, including the detection of persistent left superior vena cava (PLSVC) and right ventricular dysfunction. Cardiac POCUS with agitated saline injections through the left and right antecubital veins is a simple bedside test to make the diagnosis. We present a 42-year-old woman with first-time rapid atrial flutter in whom POCUS confirmed the presence of dilated coronary sinus and PLSVC.