OpenMed/multicare-articles huggingface dataset:
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Authors: Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María Del Prado Venegas
Journal: Front Genet (2022)
Keywords: ngs, wfs1 gene, wolfram-like syndrome, congenital hearing loss, optic atrophy
MeSH terms: Case Reports

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations. Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed. Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient.
Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome
Authors: Idil Hanci, Christoph Kamm, Marlieke Scholten, Lorenzo P Roncoroni, Yvonne Weber, Rejko Krüger, Christian Plewnia, Alireza Gharabaghi, Daniel Weiss
Journal: Front Neurol (2018)
Keywords: deep brain stimulation (dbs), dystonia, globus pallidus internus (gpi), glucose transporter type 1 (glut1), glucose transporter type-1 deficiency syndrome (glut1-ds)
MeSH terms: Case Reports

Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing "stimulation off" and "stimulation on" despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS). This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.
Primary Ewing's sarcoma of sphenoid sinus: A case report and literature review
Authors: Kunpeng Wu, Xiaoyan Zhu, Yan Li, Daxiong Wen, Huiyu Wu, Yanzhen Lai, Yun Li, Jian Wu, Zhuoxing Liu
Journal: Front Oncol (2022)
Keywords: ewing’s sarcoma, case report, literature review, sphenoid bone, sphenoid sinus
MeSH terms: Case Reports

Background:
Primary Ewing's sarcoma of sphenoid sinus, observed in children and adolescents, is an extremely rare malignancy. Such rarity makes the imaging features and treatment strategies for Ewing's sarcoma of sphenoid sinus unclear. This study aimed to offer guidance for treating this very disease by describing a patient with a rare primary Ewing's sarcoma of sphenoid sinus and reviewing the available data in the literature.
Case description:
A case of Ewing's sarcoma in sphenoid sinus treated with multidisciplinary treatment approaches, including tumor resection, radiotherapy, chemotherapy, and antiangiogenic therapy, was presented in this study. Moreover, literature for Ewing's sarcoma in the head was systematically searched, and two cases in the sphenoid sinus and five cases in the sphenoid bone were identified. Furthermore, the clinical features, imaging findings, pathological characteristics, treatment, and prognosis were summarized.
Conclusion:
Tumor resection combined with radiotherapy and chemotherapy may provide favorable results for patients with Ewing's sarcoma of sphenoid sinus and bone. However, more reports are still necessary to further clarify optimal management.
Visual field loss progression after macular hole surgery
Authors: Gian Marco Tosi, Gianluca Martone, Angelo Balestrazzi, Alex Malandrini, Marco Alegente, Patrizia Pichierri
Journal: J Ophthalmol (2009)
MeSH terms: Case Reports

Purpose. To report a patient who experienced visual field loss progression after vitrectomy for an idiopathic stage II macular hole. Methods. Case report. A 68-year-old woman, with no history of glaucoma or any neuroophthalmological diseases, underwent a vitrectomy for a macular hole. Results. The patient showed macular hole closure and a resulting central visual acuity of 20/20. However, two months after surgery, she developed an inferotemporal visual field defect. Moreover, seven months after surgery, the patient noticed an enlargement of the temporal blind area: a nearly complete temporal defect was confirmed on visual field testing. Conclusions. Although the beneficial results of successfully treated macular holes are unquestionable, this report raises the possibility that visual field defects following macular hole surgery may be progressive.
Case Report: Discontinuous Spontaneous Ventilating Anesthesia for McKeown Esophagectomy by Laryngeal Mask: A Case Series-A Novel Approach of Discontinuous Spontaneous Ventilating Anesthesia for Esophagectomy
Authors: Qiaoqiao Xu, Xuan Mo, Juan Xiong, Yi Zhang
Journal: Front Surg (2021)
Keywords: eras, lma, nivats, case report, esophagectomy
MeSH terms: Case Reports

Double lumen endobronchial ventilation in McKeown esophagectomy is common for esophageal cancer. In spite of most patients could be extubated immediately after surgery under adequate multimodal analgesia, still some patients require extended mechanical ventilation or airway support post-surgery because of pain or difficult respiration. The present study reported a novel challenge for McKeown esophagectomy with discontinuous spontaneous ventilating anesthesia by the laryngeal mask. Three esophageal cancer patients underwent McKeown esophagectomy under discontinuous spontaneous ventilating anesthesia with local and regional analgesia and appropriate sedation. Two of them were accomplished under non-intubated video-assisted thoracoscopic surgery (NIVATS), and then, the abdominal and neck surgery was managed under laryngeal mask airway with appropriate muscle relaxation. One patient was endured high PetCO2 level, and converted to regular double lumen endobronchial intubation for safety. However, from the two successful cases, we still proved that the discontinuous spontaneous ventilating anesthesia achieved the same anesthetic effect as bronchial intubation under general anesthesia for McKeown esophagectomy, which reduced the postoperative pharyngeal discomfort, might be beneficial to the patients for enhanced recovery after surgery (ERAS).
Guidezilla™ guide extension catheter I for transradial coronary intervention
Authors: Xinjun Lei, Qi Liang, Yuan Fang, Yihui Xiao, Dongqi Wang, Maozhi Dong, Jiancheng Li, Ting Yu
Journal: Front Cardiovasc Med (2022)
Keywords: guidezilla™, syntax score, case series, complex coronary lesions, percutaneous coronary intervention, transradial

Background:
Percutaneous coronary intervention (PCI) is the preferred treatment method for coronary artery diseases (CAD). This study aimed to evaluate the effectiveness and complications of the Guidezilla™ guide extension catheter I (GGEC I) in transradial coronary intervention (TRI).
Methods:
This case series study included patients with CAD who underwent TRI using the GGEC I between August 2016 and January 2019 at the First Affiliated Hospital of Xi'an Jiaotong University.
Results:
A total of 221 patients aged 65.1 ± 9.26 years were included. Coronary angiography results indicated that most patients (77.8%) had triple-vessel lesions, including 47.5% with chronic total occlusion (CTO). A total of 237 target lesions were treated, most being type C lesions (95.8%). The most common indication for GGEC I use was heavy calcification (67%), followed by extreme tortuosity (12.2%), extreme tortuosity and heavy calcification (10.9%), distally located lesion (4.5%), picking up the retrograde wire (3.2%), anomalous vessel origin (1.8%), and releasing the burr incarceration (0.4%). The mean operation time was 58 min, and the overall success rate was 94.1%. Four patients received a drug-coated balloon. No significant differences were found in operation time and success rate among the low (<23), intermediate (23-32), and severe (>32) CAD groups based on SYNTAX score stratification (P > 0.05). Two subacute thrombosis cases each were reported perioperatively, during hospitalization, and at the 1-month follow-up.
Conclusion:
The GGEC I might have advantages for TRI and is unaffected by SYNTAX score stratification.
Case report: First-in-human combined low-dose whole-heart irradiation and high-dose stereotactic arrhythmia radioablation for immunosuppressive refractory cardiac sarcoidosis and ventricular tachycardia
Authors: Martijn H van der Ree, Claudia Herrera Siklody, Mathieu Le Bloa, Patrizio Pascale, Alessandra P Porretta, Cheryl C Teres, Jorge Solana Munoz, Adrian Luca, Giulia Domenichini, Mahmut Ozasahin, Raphael Jumeau, Pieter G Postema, Camillo Ribi, Jean Bourhis, Luis Schiappacasse, Etienne Pruvot
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac radioablation, cardiac sarcoidosis, heart failure, radiotherapy, stereotactic arrhythmia radioablation (star), ventricular tachycardia
MeSH terms: Case Reports

Background:
Cardiac sarcoidosis is associated with heart failure, conduction abnormalities, and life-threatening arrhythmias including ventricular tachycardia (VT). Radiotherapy has been suggested as a treatment for extra-cardiac sarcoidosis in patients refractory to immunomodulatory treatment.
Methods:
The effectiveness and safety of low-dose whole-heart radiotherapy for therapy refractory cardiac sarcoidosis were evaluated in a pre- and post-intervention case report comparing the 54 months before and after treatment. Immunomodulatory low-dose whole-heart irradiation as sarcoidosis treatment consisted of a 2 × 2 Gy scheme. Additionally, high-dose single-fraction stereotactic arrhythmia radioablation of 1 × 20 Gy was applied to the pro-arrhythmic region to manage the ventricular tachycardia episodes. Cardiac sarcoidosis disease activity was measured by hypermetabolic areas on repeated fluorodeoxyglucose ([18F]FDG)-PET/computed tomography (CT) scans and by evaluating changes in ventricular tachycardia episodes before and after treatment.
Results:
One patient with therapy refractory progressive cardiac sarcoidosis and recurrent ventricular tachycardia was treated. The cardiac sarcoidosis disease activity showed a durable regression of inflammatory disease activity from 3 months onwards. The [18F]FDG-PET/CT scan at 54 months did not show any signs of active cardiac sarcoidosis, and a state of remission was achieved. The number of sustained VT episodes was reduced by 95%. We observed that the development of moderate aortic valve regurgitation was likely irradiation-related. No other irradiation-related adverse events occurred, and the left ventricular ejection fraction remained stable.
Conclusion:
We report here for the first time on the beneficial and lasting effects of combined immunomodulatory low-dose whole-heart radiotherapy and high-dose stereotactic arrhythmia radioablation in a patient with therapy refractory cardiac sarcoidosis and recurrent VT.
Perigastric Hematoma Masquerading as a Gastric Tumor
Authors: Kevin Yang, Nariman Hossein-Javaheri, Naren Nallapeta, Mayada Ismail
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Perigastric and intramural gastric hematomas rarely occur, with most cases associated with trauma, coagulopathy, and peptic ulcer disease. Furthermore, hematomas in the upper gastrointestinal tract are commonly located in the esophagus and duodenum. In this case report, we describe a hematoma masquerading as a gastric tumor on esophagogastroduodenoscopy (EGD) in a 54-year-old male presenting with melena. Initial computed tomography (CT) imaging suggested gastrointestinal stromal tumor (GIST) as the probable cause. We performed endoscopic ultrasound (EUS) with findings consistent with a perigastric hematoma, which aligned with the patient's diagnosis of splenic vein thrombosis (SVT) and numerous collateral vessels communicating with the hematoma. Interventional radiology (IR) was consulted for further management, although we ultimately chose a conservative approach.
Rapidly enlarging renal tumor during pregnancy: diagnostic and management dilemma
Authors: Kor Woi Tiang, Keng Lim Ng, Antonio Vega-Vega, Simon Wood
Journal: J Kidney Cancer VHL (2014)

Urological tumors diagnosed during pregnancy are rare. However, the incidence seems to be increasing largely due to advancements in modern imaging techniques and improved antenatal care. The diagnosis and management of renal tumors during pregnancy poses a dilemma to clinicians. This case report highlights the challenges in managing a large chromophobe renal cell carcinoma in a young primigravida patient. Proper antenatal assessment, a multidisciplinary team approach and appropriate discussion with patient are important determinants to achieve the best clinical outcomes for both the mother and the baby.
False ground-glass opacity and suspicion of COVID-19, beware of the technique for performing the CT
Authors: Ibrahima Niang, Mame Coumba Fall, Joseph Coumba Ndoffene Diouf, Mbaye Thiam, Ibrahima Diallo, Ibrahima Faye, Sokhna Ba
Journal: Pan Afr Med J (2020)
Keywords: covid-19, ct, ground-grass opacity, deep inspiration, imaging, technique
MeSH terms: Artifacts, Betacoronavirus, Clinical Laboratory Techniques, Coronavirus Infections / diagnostic imaging, Lung / diagnostic imaging, Pneumonia, Viral / diagnostic imaging, Tomography, X-Ray Computed / methods, Case Reports, Adult, COVID-19, COVID-19 Testing, Coronavirus Infections / diagnosis, False Positive Reactions, Female, Humans, Inhalation, Pandemics, SARS-CoV-2

Ground-glass opacity is a CT sign that is currently experiencing renewed interest since it is very common in patients with COVID-19. However, this sign is not specific to any disease. Besides, the possibility of false positive ground-glass opacity related to insufficient inspiration during the acquisition of the chest CT should be known. We report the case of a 36-year-old patient suspected of COVID-19 and in whom a second acquisition of chest CT was necessary to remove false ground-glass opacities that erroneously supported the diagnosis of COVID-19.
Posterior nutcracker syndrome with left renal vein duplication: a rare cause of haematuria in a 12-year-old boy
Authors: J Preza Fernandes, Rui Amorim, M J Gomes, V Oliveira, A Reis, J Ribeiro-Castro
Journal: Case Rep Urol (2012)

The nutcracker syndrome (NCS) is a rare cause of haematuria. It embraces an extended nonpathognomonic spectrum of symptoms that imply a difficult diagnosis. Ultimately it may be associated with substantial morbidity and even life-threatening events. We report a rare cause if a 12-year-old boy who presented with a history of frequent intermittent episodes of painless constant haematuria. The cystoscopy showed a bloody urine ejaculate from the left ureter meatus. The Doppler ultrasonography showed turbulent pattern of venous blood flow of the posterior renal vein branch behind the aorta. The abdominopelvic computer tomography (apCT) revealed left renal vein (LRV) duplication with a dilated retroaortic branch, entrapped between the aorta and the vertebral column, promoting the renal nutcracker syndrome. The patient was initially hospitalized and managed with oral iron supplements and continuous saline bladder irrigation, not requiring additional treatment. The child is currently asymptomatic, with haemoglobin value returning to normal and therefore proposed to conservative management with close followup. The authors present a case report of episodic haematuria caused by a rare entity-posterior nutcracker syndrome with renal vein duplication.
Conservative Management of a Pyelovenous Fistula After a Renal Gunshot Wound
Authors: Michael Stern, Neel H Patel, Brian Inouye, Ghalib Jibara, Judd Moul, Ariel Schulman
Journal: J Endourol Case Rep (2019)
Keywords: bullet, fistula, gunshot, penetrating, renal, trauma
MeSH terms: Case Reports

Background: We report the diagnosis and management of a pyelovenous fistula that was detected 5 days after a renal gunshot wound (GSW). Case Presentation: A 16-year-old boy presented to the trauma center with a single GSW to the right flank. CT scan revealed a shattered right kidney with active contrast extravasation and ureteral discontinuity, metal fragments in the L1 vertebra, and a bullet lodged in the upper pole of the left kidney. The patient was taken for emergent exploratory laparotomy. A right nephrectomy was performed. A left retrograde pyelogram demonstrated an intact collecting system. A left Double-J stent was placed to protect against delayed thermal injury. Repeat pyelogram on postoperative day 5 revealed a pyelovenous fistula and a stent was left in place. At 6 weeks, interval pyelogram showed complete resolution of the pyelovenous fistula and the stent was removed. At 6 months the patient was asymptomatic and normotensive with an unremarkable left kidney on ultrasonography. Conclusion: Pyelovenous fistula is a rare complication of a retained bullet in the kidney. Conservative management with ureteral stenting was effective in resolving the fistula.
Case Report: Capacity to Objectively Monitor the Response of a Chronic Pain Patient to Treatment
Authors: Julia Watson, Darren Lukas, E Russell Vickers, Graham Galloway, Carolyn E Mountford
Journal: Front Neuroimaging (2022)
Keywords: fucosylated glycan imbalance, glutathione redox imbalance, neurochemistry, pain, response to therapy
MeSH terms: Case Reports

Response to pain therapy is currently by patient self-report. We demonstrate that by evaluating the neurochemistry of a patient, using two-dimensional Correlated SpectroscopY (2D COSY) in a 3T MRI scanner, response to therapy can be recorded. A chronic temporomandibular joint (TMJ) pain patient was evaluated by a pain physician specializing in temporomandibular disorders (TMD), and by 2D COSY, before, and 6 days after treatment with Botulinum Toxin A. Prior to treatment the self-reported pain score was 8/10 and reduced to 0/10 within 24 h of treatment. The neurochemistry of the patient prior to treatment was typical of chronic pain. In particular, the Fuc-α(1-2) glycans were affected. Following treatment, the substrates, α-L Fucose, were elevated and the Fuc-α(1-2) glycans repopulated. The depletion of the molecule assigned the glutathione cysteine moiety, with chronic pain, is indicative of a Glutathione redox imbalance linked to neurodegeneration. This new approach to monitor pain could help discriminate the relative contributions in the complex interplay of the sensory and affective (emotional suffering) components of pain leading to appropriate individualized pharmaceutical drug regimens.
Use of PEG-asparaginase in a case of Hepatosplenic γδ T-cell lymphoma with long-term remission after stem cell transplantation
Authors: Kai Sun, Cesar Gentille Sanchez, Sai Ravi Pingali, Swaminathan Iyer
Journal: Ecancermedicalscience (2018)
Keywords: hepatosplenic γδ t-cell lymphoma, pegylated-asparaginase, stem cell transplant
MeSH terms: Case Reports

Hepatosplenic γδ T-cell lymphoma (HSTCL) is a rare aggressive peripheral T-cell lymphoma. Prognosis is usually poor with a median survival between 8 and 16 months after traditional chemotherapy. Stem cell transplantation (SCT) is promising and with a more intense induction regimen, has yielded positive results. We report the use of pegylated-asparaginase (PEG-asparaginase) along with a conventional anthracycline-containing regimen in a 51-year-old male who was diagnosed with HSTCL, achieved a complete remission, and subsequently underwent peripheral blood SCT and remained in remission at the time of this case report.
Hemicrania Continua Headache in a Veteran with Posttraumatic Stress Disorder and Major Depressive Disorder without Traumatic Brain Injury
Authors: Brandon A Kohrt, Erica Duncan
Journal: Case Rep Psychiatry (2012)
MeSH terms: Case Reports

Hemicrania continua is a headache characterized by chronic unremitting unilateral pain associated with ipsilateral autonomic findings. This type of headache responds to high-flow oxygen and indomethacin. This case report describes a male veteran with posttraumatic stress disorder (PTSD) and major depressive disorder who suffers from comorbid hemicrania continua. The psychiatric symptoms were recalcitrant to psychopharmacological intervention. However, when the patient's hemicrania continua was treated appropriately, the patient's psychiatric symptoms also abated. This case demonstrates the need to address physical comorbidities that may exacerbate psychiatric disorders, such as PTSD.