Intermittent palpitations in a healthy woman

SummaryThe plasma of a healthy woman was found to contain half normal factor XII (FXII) antigen level (0.46 U/ml) without any FXII clotting activity (<0.01 U/ml). The variant FXII in this plasma, denoted as FXII Locarno, was partially characterized by immunological and functional studies on the proposita’s plasma. FXII Locarno is a single chain molecule with the same size (M r = 80 kDa) as normal FXII. Isoelectric focusing suggested an excess of negative charge in the variant FXII as compared to normal FXII. In contrast to FXII in normal plasma, FXII Locarno was not proteolytically cleaved upon prolonged incubation of proposita’s plasma with dextran sulfate. Adsorption to kaolin was similar for both, abnormal and normal FXII. Incubation of the proposita’s plasma with dextran sulfate and exogenous plasma kallikrein showed normal cleavage of FXII Locarno outside of the tentative disulfide loop Cys340-Cys467, but only partial cleavage within this disulfide loop. Furthermore, plasma kallikrein-cleaved abnormal FXII showed neither amidolytic activity nor proteolytic activity against factor XI and plasma prekallikrein.These results suggest a structural alteration of FXII Locarno, affecting the plasma kallikrein cleavage site Arg353-Val354 and thus formation of activated FXII (a-FXIIa).

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Transpalpebral Superolateral Orbitotomy for Orbital Cavernous Hemangioma Extirpation: 2-Dimensional Operative Video

Operative Neurosurgery ◽

10.1093/ons/opaa389 ◽

2021 ◽

Vol 20 (4) ◽

pp. E300-E300

Author(s):

Adrien T May ◽

Ramona Guatta ◽

Torstein R Meling

Keyword(s):

Optic Nerve ◽

Cavernous Hemangioma ◽

Healthy Woman ◽

Mass Effect ◽

Complete Information ◽

Nerve Compression ◽

Definitive Treatment ◽

Vascular Tumors ◽

Cerebral Magnetic Resonance Imaging ◽

Patient Consent

Abstract Cavernous hemangiomas of the orbit are low-pressure vascular tumors. Usually benign, they become symptomatic by the local mass effect, pushing the eyeball forward, causing exophthalmia, by oculomotor muscle and nerve compression causing diplopia or by optic nerve compression, leading to visual impairment. Radiotherapy is of limited value in their treatment because of the fragility of the optic nerve and subsequent blindness risk. Surgery remains the gold standard and definitive treatment. We illustrate in this video a transpalpebral superolateral orbitotomy and extirpation of an orbital cavernous hemangioma. A 52-yr-old healthy woman was sent for neurosurgical consultation by her ophthalmologist. She described a history of progressive unilateral right exophthalmia in the last months. A cerebral magnetic resonance imaging (MRI) revealed a 2.5-cm-large orbital lesion located superiorly and laterally to the eyeball. Surgery was proposed and accepted by the patient. The frontozygomatic component of the orbital rim needed to be removed to safely extirpate the cavernous hemangioma without exerting unnecessary and risky pressure on the eyeball.1,2 We decided to go for a superolateral orbitotomy via a transpalpebral incision.3 Total removal of the lesion was achieved with no complication. Exophthalmia normalized. Written patient consent was obtained for use and publication of their image after complete information. The patient consented to the surgery.

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Multidisciplinary Approach to Suspected Sudden Death Caused by Arteriovenous Malformation Rupture: A Case Report

Medicina ◽

10.3390/medicina57070644 ◽

2021 ◽

Vol 57 (7) ◽

pp. 644

Author(s):

Federico Giuseppe Patanè ◽

Massimiliano Esposito ◽

Andrea Giovanni Musumeci ◽

Monica Palermo ◽

Marco Torrisi ◽

...

Keyword(s):

Arteriovenous Malformation ◽

Cause Of Death ◽

Venous Malformation ◽

Healthy Woman ◽

Unexpected Death ◽

Medical Problems ◽

Variable Diameter ◽

Life Threatening ◽

Brain Avms ◽

The Brain

Arteriovenous malformations (AVMs) are rare congenital conditions with a prevalence of less than 1% and are mostly asymptomatic. However, these malformations can suddenly cause intense pain or bleeding, leading to life-threatening medical problems. This report presents a case of an unexpected death in a 37-year-old previously healthy woman due to an intra-cerebellum arteriovenous malformation rupture identified during autopsy. While infective processes where preliminarily excluded, a Post Mortem Computed Tomography (PMCT) identified a tetra ventricular hemorrhage and intra-cerebellum hemorrhage. Toxicological examination was negative for most substances of abuse. During autopsy an intense hemorrhagic infiltrate in the subarachnoid space was observed. After formalin fixation of the brain the cerebellum showed hemorrhagic infarction on fourth ventricle sides, as well as several small reddish infarctions across the entire cerebellum parenchyma. Histological examination of the brain and cerebellum showed a suffusion of erythrocytes in the sub-arachnoid region. Evidence of an arterio-venous malformation, with several intertwine vessels of variable diameter, surrounded by hemorrhagic evidence. The autopsy played a crucial role in identifying the location and the possibly affected vessel, as well as defining the cause of death. It is necessary to have a greater number of autopsies to make an epidemiological contribution. Furthermore, it is crucial to create a multicenter data network with other authors from other departments to improve information about epidemiological, clinical, diagnostic and therapeutic data. Most brain AVMs as cause of death are often undiscovered.

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Pericardial effusion and cardiac tamponade requiring pericardial window in an otherwise healthy 30-year-old patient with COVID-19: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-020-02467-w ◽

2020 ◽

Vol 14 (1) ◽

Author(s):

Christina Walker ◽

Vincent Peyko ◽

Charles Farrell ◽

Jeanine Awad-Spirtos ◽

Matthew Adamo ◽

...

Keyword(s):

Case Report ◽

Pericardial Effusion ◽

Cardiac Tamponade ◽

Case Reports ◽

Healthy Woman ◽

Signs And Symptoms ◽

Rare Presentation ◽

Pericardial Window ◽

Acute Pericarditis ◽

Novel Coronavirus

Abstract Background This case report demonstrates pericardial effusion, acute pericarditis, and cardiac tamponade in an otherwise healthy woman who had a positive test result for coronavirus disease 2019. Few case reports have been documented on patients with this presentation, and it is important to share novel presentations of the disease as they are discovered. Case presentation A Caucasian patient with coronavirus disease 2019 returned to the emergency department of our hospital 2 days after her initial visit with worsening chest pain and shortness of breath. Imaging revealed new pericardial effusion since the previous visit. The patient became hypotensive, was taken for pericardial window for cardiac tamponade with a drain placed, and was treated for acute pericarditis. Conclusion Much is still unknown about the implications of coronavirus disease 2019. With the novel coronavirus disease 2019 pandemic, research is still in process, and we are slowly learning about new signs and symptoms of the disease. This case report documents a lesser-known presentation of a patient with coronavirus disease 2019 and will help to further understanding of a rare presentation.

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Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report

Journal of Neurosurgery ◽

10.3171/2015.6.jns142965 ◽

2016 ◽

Vol 125 (1) ◽

pp. 57-61 ◽

Cited By ~ 5

Author(s):

Amparo Wolf ◽

Huda Alghefari ◽

Daria Krivosheya ◽

Michael D. Staudt ◽

Gregory Bowden ◽

...

Keyword(s):

Tumor Development ◽

Healthy Woman ◽

Intracranial Tumor ◽

Intracranial Tumors ◽

Histopathological Changes ◽

Biological Origin ◽

Familial Predisposition ◽

History Of ◽

Cerebellar Liponeurocytoma ◽

Supracerebellar Infratentorial Approach

The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma. MRI revealed a large, poorly enhancing, lipomatous mass emanating from the superior vermis that produced marked compression of posterior fossa structures. An uncomplicated supracerebellar infratentorial approach was used to resect the lesion. Genetic and histopathological analyses of the lesion revealed neuronal, glial, and lipomatous differentiation and confirmed the diagnosis of cerebellar liponeurocytoma. A comparison of the tumors resected from the patient and, 22 years previously, her mother revealed similar features. Cerebellar liponeurocytoma is a poorly understood entity. This report provides novel evidence of an inheritable predisposition for tumor development. Accurate diagnosis and reporting of clinical outcomes and associated genetic and histopathological changes are necessary for guiding prognosis and developing recommendations for patient care.

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Bladder-to-bladder metastasis: gallbladder cancer metastasising to the urinary bladder

Annals of The Royal College of Surgeons of England ◽

10.1308/rcsann.2020.7048 ◽

2021 ◽

Author(s):

S Mukherjee ◽

J Abbaraju ◽

G Russell ◽

S Madaan

Keyword(s):

Urinary Bladder ◽

Gallbladder Cancer ◽

Palliative Chemotherapy ◽

Frozen Section ◽

Healthy Woman ◽

Frozen Section Analysis ◽

Bladder Metastasis ◽

Distant Spread ◽

Bladder Mass ◽

Section Analysis

We report a 48-year-old fit and healthy woman who was incidentally diagnosed to have adenocarcinoma of gallbladder after laparoscopic cholecystectomy. Subsequent imaging showed no evidence of regional or distant spread. She was scheduled for elective laparotomy and resection of gallbladder bed, but during laparotomy frozen section analysis of an incidentally discovered peritoneal deposit confirmed metastasis, so the procedure was abandoned. Thereafter, she received cisplatin and gemcitabine chemotherapy. However, surveillance computed tomography incidentally noted a urinary bladder mass which had not been present before. Transurethral resection of the bladder lesion revealed moderately differentiated adenocarcinoma of urinary bladder. The appearance and immunoprofile of the lesion confirmed metastasis from the primary gallbladder cancer, which has not been documented in the literature to the best of our knowledge. Her disease progressed and she is being challenged with gemcitabine and carboplatin as second-line palliative chemotherapy. She is still alive two years after the initial diagnosis.

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Fever and flagellate dermatosis in an otherwise healthy woman

Clinical and Experimental Dermatology ◽

10.1111/ced.14907 ◽

2021 ◽

Author(s):

S. Kam ◽

L. Ishii ◽

J. P. Zwerner ◽

A. K. Dewan

Keyword(s):

Healthy Woman

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Meningitis, spondylodiscitis, pneumonia and septic shock with Streptococcus pneumoniae in a previously healthy woman with isolated IgG2-, IgG3-, IgA-deficiency and monoclonal gammopathy of undetermined significance

Infectious Disease Reports ◽

10.4081/idr.2018.7310 ◽

2018 ◽

Vol 10 (1) ◽

Cited By ~ 1

Author(s):

Shahin Gaini ◽

David Gudnason ◽

Bjarni á Steig ◽

Jenny Jónsdóttir Nielsen

Keyword(s):

Septic Shock ◽

Monoclonal Gammopathy ◽

Left Lung ◽

Healthy Woman ◽

Caucasian Woman ◽

Vaccine Response ◽

Pneumococcal Infections ◽

Prophylactic Measures ◽

Life Threatening ◽

Undetermined Significance

A 66 years old Caucasian woman with pneumococcal meningitis was treated and discharged after an uncomplicated course. Five months later she was readmitted withfever and right side abdominal pain and diagnosed with pneumococcal spondylodiscitis. One year later she was treated fora severe chest X-ray confirmed left lobar pneumonia. Two years later she was diagnosed with a pneumococcal pneumonia inher left lung with septic shock. An immunedeficiency screen revealed slightly reduced IgA levels, low IgG2 levels, low IgG3 levels and high IgG1 levels. No other immunedefects were identified. She did not respondserologically on vaccination with 13-valentconjugate and 23-valent polysaccharide pneumococcal vaccines. Further evaluations revealed a positive M-component inher blood and a bone marrow biopsy diagnosed her to have monoclonal gammopathy of undetermined significance. To protecther against future life threatening pneumococcal infections she was started on treatment with intravenous immunoglobulin. The case report illustrates the importance of thorough evaluation of patients with unusual infectious disease entities or unusual frequency of infections in individual patients. To optimize prophylactic measures and active treatment options in the individual patient, it is important to identify underlying causes of diseases and immune deficiencies that potentially can lead to life threatening infections. This is illustrated inour case by an undiagnosed monoclonal gammopathy of undetermined significancein an apparently healthy woman with atleast three life threatening documented pneumococcal infections in a two-year period and poor pneumococcal vaccine response

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Right Breast Mastectomy and Reconstruction with Tissue Expander under Thoracic Paravertebral Blocks in a 12-Week Parturient

Case Reports in Anesthesiology ◽

10.1155/2015/842725 ◽

2015 ◽

Vol 2015 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Christopher Allen-John Webb ◽

Paul David Weyker ◽

Shara Cohn ◽

Amanda Wheeler ◽

Jennifer Lee

Keyword(s):

Breast Cancer ◽

Postoperative Pain ◽

General Anesthesia ◽

Pain Control ◽

Breast Surgery ◽

Anesthetic Management ◽

Healthy Woman ◽

Tissue Expander ◽

Postoperative Pain Control ◽

Tissue Expanders

Paravertebral blocks are becoming increasingly utilized for breast surgery with studies showing improved postoperative pain control, decreased need for opioids, and less nausea and vomiting. We describe the anesthetic management of an otherwise healthy woman who was 12 weeks pregnant presenting for treatment of her breast cancer. For patients undergoing breast mastectomy and reconstruction with tissue expanders, paravertebral blocks offer an anesthetic alternative when general anesthesia is not desired.

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Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

Cytogenetic and Genome Research ◽

10.1159/000479463 ◽

2017 ◽

Vol 152 (3) ◽

pp. 117-121

Author(s):

My Linh Thibodeau ◽

Michelle Steinraths ◽

Lindsay Brown ◽

Zheyuan Zong ◽

Naomi Shomer ◽

...

Keyword(s):

De Novo Assembly ◽

De Novo ◽

Chromosome Rearrangement ◽

Healthy Woman ◽

Asian Woman ◽

Balanced Translocation ◽

Gene Desert ◽

Fusion Event ◽

Translocation Breakpoints

A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.

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