27,503 results match your criteria entity report

Lorlatinib Induces Durable Disease Stabilization in a Pancreatic Cancer Patient with a ROS1 p.L1950F Mutation: Case Report.

Oncol Res Treat 2021 Jul 28:1-7. Epub 2021 Jul 28.

Department of Hematology, Oncology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald Tumorzentrum, University Comprehensive Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Introduction: The prognosis of pancreatic cancer has improved only modestly in recent years. This is partly due to the lack of development in precision oncology including immune oncology in this entity. Rearrangements of the proto-oncogene tyrosine protein kinase ROS1 gene represent driver alterations found especially in lung cancer. Read More

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Comparison of outcomes in rectus abdominis diastasis repair-which data do we need in a hernia registry?

Hernia 2021 Jul 28. Epub 2021 Jul 28.

Department of General and Visceral Surgery, Pius Hospital, University Hospital of Visceral Surgery, Georgstrasse 12, 26121, Oldenburg, Germany.

Introduction: Rectus abdominis diastasis (RAD) ± concomitant hernia is a complex hernia entity of growing significance in everyday clinical practice. Due to a multitude of described surgical techniques, a so far missing universally accepted classification and hardly existing comparative studies, there are no clear recommendations in guidelines. Therefore, "RAD ± concomitant hernia" will be documented as a separate hernia entity in the Herniamed Registry in the future. Read More

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Parathyroid Carcinoma in a Patient With Secondary Hyperparathyroidism and Thyroid Hemiagenesis: A Case Report and Review of the Literature.

Ear Nose Throat J 2021 Jul 28:1455613211036240. Epub 2021 Jul 28.

Division of Endocrinology, Metabolism, and Hypertension Research, Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.

Parathyroid carcinoma is a rare endocrine tumor. Parathyroid carcinoma in patients with secondary hyperparathyroidism due to chronic kidney disease is also rare. In addition, thyroid hemiagenesis is a rare congenital anomaly. Read More

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Snot What you Think: mucus or myxoid matrix with epithelioid cells and bubbly cytoplasm?

Cytopathology 2021 Jul 28. Epub 2021 Jul 28.

University of Padova, Pathology, Padova, Italy.

Chordoma, a neoplasm of notochordal differentiation, is a rare subtype of bone sarcoma typically occurring along the axial skeleton. The Authors report the case of a 63-yrs M with a history of progressive nasal obstruction.FNA demonstrated a characteristic cytological pattern for this peculiar entity. Read More

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A Rare Case of Mitral Prosthesis Dislocation Due to a Circumferential Left Atrial Dissection.

JACC Case Rep 2021 Apr 21;3(4):639-644. Epub 2021 Apr 21.

Division of Cardiology, University Hospital Policlinico Bari, Bari, Italy.

Left atrial dissection is a rare entity mostly associated with mitral valve surgery and revealed in early post-operative period. This case report discusses a case of left atrial dissection associated with dislocation of the mechanical mitral prosthesis in the left atrium, which was peculiar in its anatomy and pathophysiology, occurred 12 years after surgery. (). Read More

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To Be or Not To Be: A Case of Recurrent Swelling Syndrome of Thoracic Duct.

JACC Case Rep 2020 Jun 17;2(7):1070-1073. Epub 2020 Jun 17.

Department of Internal Medicine, University of Connecticut, Farmington, Connecticut.

Thoracic duct aneurysm is a rare entity presenting as a stable, asymptomatic, left supraclavicular swelling. We report an unusual case of a thoracic duct aneurysm in a 71-year-old woman presenting as a recurrent swelling syndrome of the left supraclavicular area associated with sporadic episodes of sharp left subcostal pain. (). Read More

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Prosthetic Valve Endocarditis From in an Immunocompetent Patient.

JACC Case Rep 2020 May 20;2(5):693-696. Epub 2020 May 20.

Baylor College of Medicine, Houston, Texas.

Fungal endocarditis is a rare clinical entity. This report describes an unusual case of fungal endocarditis caused by infection with in a 20-year-old immunocompetent man who received the diagnosis 1 year following biological aortic valve replacement. (). Read More

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Spontaneous Recanalization of Coronary Thrombus in a Patient With Polycythemia Vera.

JACC Case Rep 2020 Mar 18;2(3):497-498. Epub 2020 Mar 18.

Department of Cardiology, University and Hospital Fribourg, Switzerland.

Spontaneous recanalized coronary thrombi (SRCT), a rare and under-diagnosed entity, are old thrombus formations characterized by multiple communicating channels. We report the case of a 72-year-old female patient who presented with SRCT in the context of polycythemia vera. Optical coherence tomography (OCT) is the diagnostic method of choice. Read More

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Cardiogenic Shock in a Healthy Young Woman With Acute Onset Abdominal and Chest Pain.

JACC Case Rep 2020 Jan 15;2(1):24-27. Epub 2020 Jan 15.

Department of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada.

Takotsubo cardiomyopathy is a relatively common yet poorly understood entity that predominantly affects women. This report presents a case of a spinal cord bleeding that triggered an atypical variant of Takotsubo cardiomyopathy and led to cardiogenic shock. (). Read More

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January 2020

Spontaneous Spinal Intramedullary Hematoma in an Infant: A Rare Entity and a Diagnostic Challenge.

J Pediatr Neurosci 2021 Jan-Mar;16(1):61-64. Epub 2021 Jun 25.

Department of Neurosurgery, RNT Medical College, Udaipur, India.

Introduction: Spontaneous spinal intramedullary hematoma is a rare cause of acute paraplegia in adults and is extremely uncommon in children. Very few cases with no apparent etiology (such as trauma, vascular lesions) have been reported in adults. We did not find any apparent cause for the hematoma in our patient and to the best of our knowledge, this is first case reported in infants. Read More

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Basilar artery trunk aneurysm: clinical and angiographic outcomes of endovascular treatment.

J Neurointerv Surg 2021 Jul 27. Epub 2021 Jul 27.

Department of Neurosurgery, Ajou University School of Medicine and Graduate School of Medicine, Suwon, Gyeonggi-do, Korea (the Republic of)

Background: Basilar artery (BA) trunk aneurysms are rare, and the clinical characteristics and outcomes of endovascular treatment (EVT) remain unclear. The purpose of this study was to report clinical and angiographic outcomes of BA trunk aneurysm treated with EVT and to analyze risk factors for unfavorable outcomes.

Methods: From October 2004 to December 2020, a total of 40 patients with BA trunk aneurysms underwent EVT. Read More

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Rare paraneoplastic syndrome of prostatic cancer: limbic encephalitis: a case report.

J Med Case Rep 2021 Jul 28;15(1):405. Epub 2021 Jul 28.

Urology Department, René Dubos Hospital, 6, Avenue de l'Ile-de-France, 95300, Pontoise, France.

Introduction: Limbic encephalitis is an autoimmune neurologic disorder, often of paraneoplastic origin, that seldom complicates prostatic tumors. The nonspecificity of symptoms makes the diagnosis sometimes difficult to establish. Prognosis is essentially determined by comorbidities and sensorineural and cognitive sequelae. Read More

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Surgical resection of pulmonary crystal-storing histiocytosis with Sjögren's syndrome: A case report.

Int J Surg Case Rep 2021 Jul 14;85:106196. Epub 2021 Jul 14.

Department of Chest Surgery, Sasebo City General Hospital, 9-3 Hirase-cho, Sasebo, Nagasaki 857-8511, Japan. Electronic address:

Introduction And Importance: Crystal-storing histiocytosis (CSH) is a rare clinical entity characterized by an abnormal increase in the number of histiocytes with massive accumulation of crystallized immunoglobulins. Yano et al. reported only one case of gastric CSH associated with Sjögren's syndrome. Read More

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Chronic subdural hematoma-induced parkinsonism: A systematic review.

Clin Neurol Neurosurg 2021 Jul 21;208:106826. Epub 2021 Jul 21.

Department of Neurosurgery, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.

Background: Chronic subdural hematoma (CSDH) is one of the most common neurosurgical cases, especially in elderly individuals. Secondary parkinsonism due to CSDH is a rare entity. The mechanism of parkinsonism symptoms in chronic subdural hematoma has been suggested to include direct mechanical compression of the basal ganglia due to hematoma or indirectly through brain structure changes due to space lesions and vascular disorders. Read More

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Exercise-induced diplopia: a mysterious and rare entity.

Strabismus 2021 Jun;29(2):112-115

Department of Ophthalmology, Molde Hospital, Molde.

A rare case of idiopathic exercise-induced diplopia was reported. A 28-year-old male experienced diplopia during and after intensive exercise. These symptoms had been present for over a year. Read More

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An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB-fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts.

Brain Pathol 2021 Jul 27:e13010. Epub 2021 Jul 27.

Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, Paris, France.

FET:CREB fusions have been described in a variety of tumors from various phenotypes. Recently, these fusion transcripts were reported in intracranial tumors, variably named intracranial mesenchymal myxoid tumors or angiomatoid fibrous histiocytomas. Controversy remains concerning the terminology for these tumors. Read More

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Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.

Brain Tumor Pathol 2021 Jul 27. Epub 2021 Jul 27.

Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.

The most recurrent fusion of central nervous system high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) is MN1 rearrangement. Here, we report the case of a 36-year-old man with spinal cord astroblastoma showing Ewing Sarcoma breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)-BEN domain-containing 2 (BEND2) fusion. The patient presented with back pain, gait disturbance and dysesthesia in the lower extremities and trunk. Read More

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Anaplastic gangliogliomas of the spinal cord: a scoping review of the literature.

Neurosurg Rev 2021 Jul 27. Epub 2021 Jul 27.

Department of Neurosurgery, University Hospital of Ioannina, PO BOX 103, 45500, Neohoropoulo, Ioannina, Greece.

Gangliogliomas (GGs) are rare, usually low-grade tumors that account for 1-2% of all central nervous system (CNS) neoplasms. Spinal GGs are exceedingly rare (1% of all spinal tumors) and the presentation of anaplastic features in them is even rarer. According to the last World Health Organization (WHO) classification of CNS neoplasms, anaplastic GG (AGG) is classified as a malignant neoplasm (grade III). Read More

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Primary cardiac B cell lymphoma in an immunocompetent patient.

BMJ Case Rep 2021 Jul 26;14(7). Epub 2021 Jul 26.

Cardiology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo, Japan.

Primary cardiac lymphoma is a rare entity of extranodal lymphoma and is observed with increasing frequency in immunocompromised hosts. However, a considerable proportion of cardiac lymphomas still occur in immunocompetent patients. We report the case of a 55-year-old immunocompetent Japanese man with a large amount of pericardial fluid and the presentation of heart failure secondary to primary cardiac B cell lymphoma, which was diagnosed by cytological examination of pericardial fluid and imaging. Read More

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Exomphalos with intestinal fistulation: Case series and systematic review for clinical characterization, management and embryopathogenesis.

J Pediatr Surg 2021 Jul 14. Epub 2021 Jul 14.

Department of Paediatric Surgery, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, Westminster Bridge Road, London SE1 7EH, UK; Chelsea Children's Hospital, Chelsea and Westminster Hospital, 369 Fulham Road, Chelsea, London SW10 9NH, UK. Electronic address:

Introduction: Exomphalos with intestinal fistulation (EIF) is a rare variant of exomphalos with intestine opening to the surface of an intact sac, and may result in a diagnostic challenge. We report 3 new cases and conducted a systematic review of the literature, to characterize its association with the type of exomphalos and vitellointestinal duct (VI) as well as to evaluate its management and outcomes.

Methods: A literature search from PubMed using keywords pertaining to exomphalos and fistulation was used to identify all unique cases reported between 1950 and 2020, in addition to the case series reported here, to establish the clinical presentation, histological findings, management and outcomes. Read More

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Spontaneous third ventriculostomy in patients undergoing fetal surgery for myelomeningocele correction.

Childs Nerv Syst 2021 Jul 23. Epub 2021 Jul 23.

Department of Fetal Medicine, Santa Joana Hospital and Maternity Care, Sao Paulo, Brazil.

Introduction: Spontaneous third ventriculostomy (STV) is characterized by the spontaneous rupture of one of the ventricle walls due to increased pressure in the third ventricle caused by obstructive hydrocephalus. Clinically, STV results in resolution of signs and symptoms of intracranial hypertension and head circumference stabilization. No spontaneous STV cases in patients with myelomeningocele have been reported in the literature. Read More

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Atypical Charles Bonnet syndrome secondary to frontal meningioma: a case report.

BMC Psychiatry 2021 Jul 22;21(1):365. Epub 2021 Jul 22.

Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, Ciudad de México, Mexico.

Background: Charles Bonnet Syndrome (CBS) is a rare clinical entity that is classically composed of visual hallucinations in the context of an altered optic pathway with preservation of reality judgment. This case aims to present the association of visual hallucinations with complex alterations of the nervous structures adjacent to the visual pathway and an atypical clinical presentation, thus explaining the possible mechanisms involved in the generation of these symptoms.

Case Presentation: A 43-year-old man presents seeking care due to visual hallucinations with partial preservation of reality judgment and symptoms compatible with a major depressive disorder, including irritability and diminished hygiene habits. Read More

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Female primary urethral carcinoma: A rare case report.

Int J Surg Case Rep 2021 Jun 10;85:106100. Epub 2021 Jun 10.

Urology Department, Faculty of Medicine, Universitas Syiah Kuala, General Hospital dr. Zainoel Abidin, Banda Aceh, Indonesia.

Introduction: Primary tumors of the female urethra are exceedingly rare and account for <0.02% of the malignant disease occurring in women. This disease usually presents late and, hence, has a poor outcome. Read More

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Concomitant Langerhans cell histiocytosis of cervical lymph nodes in adult patients with papillary thyroid carcinoma: A report of two cases and review of the literature.

Autops Case Rep 2021 12;11:e2021253. Epub 2021 Mar 12.

King Hussein Cancer Center, Department of Pathology and Laboratory Medicine, Amman, Jordan.

Objective: : Langerhans cell histiocytosis (LCH) is an uncommon entity of unknown etiology. It contains a wide range of clinical presentations. The discovery of oncogenic mutation in LCH has provided additional evidence that LCH is a neoplasm. Read More

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Metastatic gallbladder carcinoma presenting as an ovarian mass.

Autops Case Rep 2021 6;11:e2021248. Epub 2021 Apr 6.

Command Hospital, Department of Laboratory Medicine, Lucknow, India.

Metastatic gallbladder carcinoma to the ovaries is occasional but a recognized entity. It can mimic, clinical and morphologically, a primary ovarian tumor, challenging the diagnosis. We present the case of a patient with a lump in the hypogastrium extending into the right iliac fossa and was found to have abdominopelvic cystic lesion with enhancing solid components and multiple sub-centimetric and ill-defined abdominal lymph nodes. Read More

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A unique presentation of a rare renal cancer: Appearance of bone metaplasia in tubulocystic renal cell carcinoma.

Urol Case Rep 2021 Nov 3;39:101767. Epub 2021 Jul 3.

University Urology, USA Health, Mobile, AL, United States.

Tubulocystic renal cell carcinoma is a rare cancer that was not defined as a distinct entity until the early 2000s. Due to the recency of its classification, it remains poorly understood and leaves much room for future research. This report looks at a unique case of this rare subtype of renal cancer. Read More

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November 2021

Pilomyxoid astrocytoma of the thoracic spinal cord: Extremely rare case report of over 70-year-old patient.

Clin Case Rep 2021 Jul 21;9(7):e04530. Epub 2021 Jul 21.

Clinic of Neurosurgery Clinical Center Serbia Beograd Serbia.

The Pilomyxoid is rare tumor in elderly population, in addition to the occurrence of an isolated lesion in spinal cord is extremely rare in non-pediatric population. Taking biopsy and subtotal resection is the starting point in essential approach for the treatment. After defining the histopathological nature of the tumor and specified that is Pilomyxoid, the next step is the combination of reoperation and adjuvant therapy. Read More

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Pediatric Anterior Transolecranon Fracture-Dislocation of the Elbow: A Case Report and Review of Literature.

Indian J Orthop 2021 Jul 17;55(Suppl 2):508-512. Epub 2021 Apr 17.

University College of Medical Sciences, Delhi, India.

A five-year-old female child came to us with complaints of pain, swelling and deformity of the left elbow following fall on flexed elbow. Radiographs showed an anterior transolecranon-fracture dislocation of the elbow. After an unsuccessful attempt at closed reduction, open reduction and internal fixation with a tension band construct using two 1. Read More

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Rare mass of the anterior mediastinum: Thymolipomas.

Radiol Case Rep 2021 Sep 9;16(9):2570-2572. Epub 2021 Jul 9.

Radiology department of Hassan II university hospital of Fez, Sidi Mohammed Ben Abdallah University of Fez Morroco.

Thymolipoma is a rare benign neoplasm of the thymus containing both mature adipose tissue and thymic tissue. We report a case of a 34-year-οld man, presenting a mass of the anterior mediastinum, the radiology investigation and operatory piece diagnosed a thymolipoma. This study highlights the clinical diagnostic and therapeutic features as well as the evolutionary characteristics of this entity. Read More

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September 2021

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

Eur J Hum Genet 2021 Jul 26. Epub 2021 Jul 26.

Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease in a large Finnish family. We show that the defect results in degradation of the gene product, causing IMPDH2 deficiency in patient cells. Read More

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