scholarly journals BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Bianca Costa Soares de Sá ◽  
Mariana Petaccia de Macedo ◽  
Giovana Tardin Torrezan ◽  
Juliana Casagrande Tavoloni Braga ◽  
Felipe Fidalgo ◽  
...  
Keyword(s):  
Confocal Microscopy ◽  
Clinical Aspects ◽  
Cutaneous Lesions ◽  
Case Presentation ◽  
Melanocytic Tumors ◽  
Increased Risk ◽  
Risk Patients ◽  
History Of ◽  
Aggressive Tumors

Abstract Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors.

Bilateral diffuse uveal melanocytic proliferation: A case report and literature review

2020 ◽  
Author(s):  
Nianting Tong ◽  
Liangyu Wang ◽  
Nan Wang ◽  
Zhanyu Zhou
Keyword(s):  
Retinal Detachment ◽  
Exudative Retinal Detachment ◽  
Histopathologic Examination ◽  
Cataract Formation ◽  
Case Presentation ◽  
Melanocytic Tumors ◽  
Ophthalmic Manifestations ◽  
Underlying Malignancy ◽  
History Of ◽  
Shallow Anterior Chamber

Abstract Background Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular disease that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. Characteristic ocular findings include exudative retinal detachment, rapid cataract formation and uveal melanocytic tumors. Case presentation Here, we presented a patient, whose clinical manifestation was diffusely thickened choroid, shallow anterior chamber, cataract formation and exudative retinal detachment. Histopathologic examination for the biopsies from the choroid during the surgery showed the the tissue might be originated from melanocytes and with the benign biologic behavior. Therefore, the diagnosis for this patient was BDUMP, although there was no obvious history of malignancy until we prepared for this article. Conclusions This was a rare BDUMP clarified by ophthalmic manifestations and histopathologic examination, without clear history of systematic malignancy.

scholarly journals How should the ticagrelor be used? The point after the TWILIGHT and THEMIS-PCI studies

2020 ◽  
Vol 22 (Supplement_L) ◽  
pp. L72-L76
Author(s):  
Laura Gatto ◽  
Francesco Prati
Keyword(s):  
Clinical Trials ◽  
Heart Attack ◽  
Randomized Clinical Trials ◽  
Stable Coronary Artery Disease ◽  
Diabetic Patients ◽  
Increased Risk ◽  
The Face ◽  
Risk Patients ◽  
History Of ◽  
Artery Disease

Abstract The ticagrelor represents a cornerstone of antiplatelet therapy and its use has been supported, over the years, by several clinical trials that have enrolled thousands of patients; while the PLATO study initially demonstrated its effectiveness in the immediate treatment of acute coronary syndromes, the PEGASUS study documented the benefit of prolonging this treatment beyond 12 months from the heart attack. Over the past few months, two new randomized clinical trials have been published that have seen the use of ticagrelor in different clinical settings. The TWILIGHT study showed that in high-risk patients who completed 3 months of double antiplatelet drugs after coronary angioplasty, ticagrelor monotherapy is associated with a 44% reduction in the risk of clinically relevant bleeding in the absence of an increase in the ischaemic risk. The THEMIS study instead concluded that in the population of diabetics with stable coronary artery disease, but without a history of heart attack or stroke, a strategy that involves the addition of ticagrelor to the acetylsalicylic acid is not advisable as in the face of a benefit in the prevention of events ischaemic an increased risk of bleeding has been observed. Only in the subgroup of diabetic patients with a history of previous angioplasty would a more powerful antithrombotic therapy seem to be advantageous.

scholarly journals The Risk of Stroke Using CHA2 DS2 -VASc Score in Hemodialysis Patients at a Tertiary Hospital in Riyadh, Saudi Arabia

2019 ◽  
Vol 4 (7) ◽  
Keyword(s):  
Risk Factors ◽  
High Risk ◽  
Stroke Risk ◽  
Hemodialysis Patients ◽  
Low Risk ◽  
High Risk Patients ◽  
Stroke Risk Factors ◽  
Increased Risk ◽  
Risk Patients ◽  
History Of

Introduction: Patients undergoing hemodialysis are at increased risk of stroke. However, less known about the impact of some of the stroke risk factors, and the value of stroke risk scores in determining the risk in those patients. Our main goal. To assess the risk factors for stroke in hemodialysis patients and the use of the new CHA2DS2-VASc score for stroke assessment. Methods: Single center, retrospective cohort study of 336 patients undergoing hemodialysis from June 24, 2018, to September 6, 2018, was recruited. Baseline demographics, clinical, and laboratory data were collected. We calculated the CHA2 DS2 -VASc score for stroke assessment in all patients and categorized them into high, moderate and low risk patients according to CHA2 DS2 - VASc score and subcategorized them to two groups atrial fibrillation (AFib) and Non- Atrial fibrillation (Non AFib) patients. Results: 336 patients were included in our study; the majority of patients were at high risk with a CHA2 DS2 -VASc Score mean of 2.9± 1.5, although history of stroke was observed only in 15 patients (4.46%). According to CHA2 DS2 - VASc score, 280 patients were at high risk, 172 (51.19%) were high-risk patients on treatment (anticoagulant or antiplatelet) and 108(32.14%) patients were high risk patients not on treatment 48 were at moderate risk (14.28%) and 8 were at low risk (2.38 %). Patients were divided into subgroups as non-AFib and AFib. In non-AFib patients 320 (95.23%), high-risk patients 103 (32.18%) were not treated; high-risk patients with treatment are 162 (50.62%), moderate patients were 47 (14.68%), 8(2.5%) was in low risk. AFib patients were 16 with a mean CHA2 DS2 -VASc score of 4.4±1.1. Patients with AFib were all at high risk except 1 was at moderate risk (6.25%). There were 11 (68.75%) patients on treatment and 5 (31.25%) patients not on treatment. The risk factors for stroke that were statistically significant in increasing score risk for all patients were: age > 65 (95% CI, -2.04– -1.29; p = 0.000), being female (95% CI, -1.36– -0.68; p = 0.000) hypertension (95% CI, -2.59– -1.37; p = 0.000), diabetes (95% CI, -2.10– -1.50; p = 0.000), CVD (95% CI, -2.07– -1.24; p=0.000), history of stroke or TIA (95% CI, -3.70– -2.03; p = 0.000), CHF or LVEF (95% CI, -2.28– - 0.91; p = 0.000). Conclusions: The risk of stroke in hemodialysis patients is significant according to the use of CHA2 DS2 -VASc score in Non-AFib hemodialysis patients shows supportive evidence of increased risk of stroke in those patients, which suggest the importance of close monitoring of patients with stroke risk factors by the nephrologist and the stroke team which will lead to the initiation of early prophylaxis in those patients.

Incidence of deep venous thrombosis associated with central venous catheters (DVT-CVC) in cancer patients: A multicenter study

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 8627-8627 ◽  
Author(s):  
J. Feliu ◽  
R. Lecumberri ◽  
A. Jerez ◽  
A. Cantalapiedra ◽  
T. García ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Epidemiologic Study ◽  
Tumor Stage ◽  
Antithrombotic Prophylaxis ◽  
Increased Risk ◽  
Basal Plasma ◽  
Cancer Tumor ◽  
Risk Patients ◽  
History Of ◽  
Plasma Markers

8627 Background: The reported incidence of DVT-CVC is extremely variable (0.3–28.3% for symptomatic thrombosis and 27–66% for asymptomatic thrombosis). Data in regarding new catheter materials and insertion techniques are very limited. Likewise, the use of antithrombotic prophylaxis in cancer patients with a CVC remains debatable. Methods: A prospective epidemiologic study was performed, which included adult patients with active cancer and no history of venous thromboembolism, in whom a long term CVC was inserted. Patients were followed-up for 90 days and a bilateral upper extremity Doppler-ultrasound was performed on days 45±5 and 90±5. Likewise, basal blood samples were taken and have been analyzed for hypercoagulability markers and prothrombotic factors. Results: Inclusion period lasted from July 2004 until May 2005. 141 patients have completed the follow up, with a mean age of 52.1±14.3 years (range 21–87). The cumulative incidence of DVT-CVC was 14.2% (20/141): 6.4% were symptomatic (9/141) and 8.9% were asymptomatic (11/123). All thrombotic events, excluding 4 cases, occurred before day 45. Neither age, gender, type of tumor (solid or haematological cancer), tumor stage, type of CVC (Port or tunnelled), number of lumens, side of insertion, platelet count or use of antithrombotic prophylaxis were significantly associated with the incidence of DVT-CVC, although only 1/8 patients with DVT-CVC receiving antithrombotic prophylaxis (12.5%) used high risk prophylaxis. Patients with prior central catheters tended to have a greater incidence of DVT-CVC (P=0.10). None of the basal plasma markers analyzed (fibrinogen, D dimer, F VIII, proteine C resistance, prothrombin fragments 1+2, thrombin-antithrombin complex) have been significantly associated with increased risk of DVT-CVC. Conclusions: DVT-CVC is a frequent complication in cancer patients, as with solid tumors so with haematologic malignancies. The incidence of DVT-CVC seems to be specially high the first few weeks following catheter placement. None of the basal plasma markers analyzed in this study have been associated with the incidence of DVT-CVC. New studies must be performed to allow identification of at risk patients who might benefit from antithrombotic prophylaxis. No significant financial relationships to disclose.

scholarly journals Cowden Syndrome: report of a case and brief review of literature

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 52-52 ◽  
Author(s):  
Ana Carolina Souza Porto ◽  
Elisabeth Roider ◽  
Thomas Ruzicka
Keyword(s):  
Cell Cycle Progression ◽  
Cowden Syndrome ◽  
Pten Gene ◽  
Benign Tumors ◽  
Cutaneous Lesions ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Increased Risk ◽  
History Of ◽  
Risk Of Cancer

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.

scholarly journals Severe Thrombocytosis in a Newborn with Subcutaneous Fat Necrosis and Maternal Chorioamnionitis

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Mitali Sahni ◽  
Pooja Patel ◽  
Akila Muthukumar
Keyword(s):  
Platelet Count ◽  
Subcutaneous Fat ◽  
Metabolic Abnormalities ◽  
Fat Necrosis ◽  
Unique Case ◽  
Subcutaneous Fat Necrosis ◽  
Case Presentation ◽  
Subcutaneous Nodules ◽  
Increased Risk ◽  
History Of

Background. Subcutaneous fat necrosis (SFN) is a form of transient panniculitis that presents commonly in infants with a history of perinatal insult, particularly hypothermia. It is characterized by subcutaneous nodules and plaques that appear over bony prominences on cheeks, shoulders, buttock, and thighs. SFN is usually associated with various complications including hypercalcemia, thrombocytopenia, hypertriglyceridemia, and hyperglycemia. Case Presentation. We present a unique case of a female infant with a history of maternal chorioamnionitis who presented with SFN at 11 days of life with thrombocytosis. The platelet count decreased during the hospital stay, and thrombocytosis resolved over the course of the next two weeks. She did not have any other hematological or metabolic abnormalities associated with SFN. Conclusion. Infants with perinatal stress are at increased risk of developing SFN during the first month of life. Infants with a diagnosis of SFN should be monitored closely for various hematological and metabolic abnormalities that can have serious consequences.

Hydromorphone-induced chorea as an atypical presentation of opioid neurotoxicity: A case report and review of the literature

2018 ◽  
Vol 32 (9) ◽  
pp. 1529-1532 ◽  
Author(s):  
Emily J Martin ◽  
Christina L Vaughan ◽  
Rabia Atayee ◽  
Jeremy M Hirst ◽  
Kaitlyn O’Donnell ◽  
...  
Keyword(s):  
Cutaneous Lesion ◽  
Cutaneous Lesions ◽  
Drug Induced ◽  
Case Presentation ◽  
Opioid Dose ◽  
First Case ◽  
Severe Postoperative Pain ◽  
History Of ◽  
Case Outcome ◽  
Primary Cutaneous Lymphoma

Background: While opioid-induced myoclonus is well described, there are limited reports of opioid-induced chorea. Here we present the first case of chorea as a manifestation of opioid neurotoxicity due to hydromorphone. Case presentation: A 20-year-old woman presenting with fevers and cutaneous lesions was diagnosed with hemophagocytic lymphohistiocytosis secondary to primary cutaneous lymphoma. Surgical resection of a cutaneous lesion was complicated by severe postoperative pain requiring rapid opioid dose escalation. Seven days after hydromorphone was initiated, she developed positive myoclonus, hallucinations, delirium, and involuntary, flowing movements consistent with chorea. She had no personal or family history of nervous system disorders and was not taking any medications associated with drug-induced chorea. Case management: The remainder of her neurologic examination was unremarkable. Her renal function was normal and no etiology was found on neuroimaging or laboratory workup. Hydromorphone was discontinued and pain control was achieved with fentanyl. Case outcome: The patient’s neurotoxic symptoms including chorea resolved within 72 h of hydromorphone discontinuation. Conclusion: Further studies are needed to determine which patients have a unique sensitivity to opioids predisposing them to chorea. Clinicians should be aware that chorea may be a sign of such toxicity so that rapid corrective action can be taken.

scholarly journals A creatinine-based model to predict recurrent bleeding after modified percutaneous transhepatic variceal embolization in cirrhotic patients

2020 ◽  
Author(s):  
Zhen Li ◽  
Kun Ji ◽  
Han-Long Zhu ◽  
Si Zhao ◽  
Xin Li ◽  
...  
Keyword(s):  
High Risk ◽  
Recurrent Bleeding ◽  
Kaplan Meier ◽  
Increased Risk ◽  
Splenic Embolization ◽  
Risk Patients ◽  
History Of ◽  
Cirrhotic Patients ◽  
Independent Risk Factors ◽  
End Stage

Abstract Background: Patients who survived the initial esophagogastric variceal bleeding (EVB) experienced an increased risk of recurrent bleeding and death, but a reliable predictive model is lacking. We aim to develop and validate a model for rebleeding prediction in cirrhotic patients with EVB after modified percutaneous transhepatic variceal embolization (PTVE) with cyanoacrylate.Methods: A total of 122 patients with EVB who underwent PTVE from January 2015 to March 2020 were enrolled in this study. The multivariate logistic analyses were conducted to determine independent risk factors for nomogram construction. The discrimination, calibration and clinical utility of the nomogram were compared with the Model for End-stage Liver Disease (MELD) and Child–Pugh model. Additionally, a risk stratification was developed according to nomogram.Results: Rebleeding within 3 months after PTVE occurred in 32 patients (26.2%). The independent rebleeding indicators included the history of endoscopic therapy, Child–Pugh score, partial splenic embolization and creatinine level. The nomogram incorporating these four predictors achieved excellent calibration and discriminatory abilities with a concordance index of 0.85 which was confirmed to be 0.83 through bootstrapping validation. The nomogram harbored better discrimination and clinical applicability than the MELD and Child–Pugh model. As shown in the Kaplan-Meier curves, the patients at high risk were significantly associated with the high probability of rebleeding (P < 0.001). Conclusions: We created a creatinine-based nomogram to predict rebleeding in cirrhotic patients received PTVE, which could help clinicians to discern the high-risk patients to perform more aggressive treatments earlier and formulate intensive follow-up plan for them.

scholarly journals Sibling history is associated with heart failure after a first myocardial infarction

Open Heart ◽  
2020 ◽  
Vol 7 (1) ◽  
pp. e001143
Author(s):  
Charlotte Glinge ◽  
Louise Oestergaard ◽  
Reza Jabbari ◽  
Sara Rossetti ◽  
Regitze Skals ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Heart Failure ◽  
Family History ◽  
Causes Of Death ◽  
Parental History ◽  
Increased Risk ◽  
History Of ◽  
Parental Family ◽  
First Myocardial Infarction

ObjectiveMorbidity and mortality due to heart failure (HF) as a complication of myocardial infarction (MI) is high, and remains among the leading causes of death and hospitalisation. This study investigated the association between family history of MI with or without HF, and the risk of developing HF after first MI.MethodsThrough nationwide registries, we identified all individuals aged 18–50 years hospitalised with first MI from 1997 to 2016 in Denmark. We identified 13 810 patients with MI, and the cohort was followed until HF diagnosis, second MI, 3 years after index MI, emigration, death or the end of 2016, whichever occurred first. HRs were estimated by Cox hazard regression models adjusted for sex, age, calendar year and comorbidities (reference: patients with no family history of MI).ResultsAfter adjustment, we observed an increased risk of MI-induced HF for those having a sibling with MI with HF (HR 2.05, 95% CI 1.02 to 4.12). Those having a sibling with MI without HF also had a significant, but lower increased risk of HF (HR 1.39, 95% CI 1.05 to 1.84). Parental history of MI with or without HF was not associated with HF.ConclusionIn this nationwide cohort, sibling history of MI with or without HF was associated with increased risk of HF after first MI, while a parental family history was not, suggesting that shared environmental factors may predominate in the determination of risk for developing HF.

Family History of Convulsions in Candidates for Immunization With Pertussis-Containing Vaccines (Diphtheria, Tetanus, Pertussis)

PEDIATRICS ◽  
1987 ◽  
Vol 80 (5) ◽  
pp. 743-744
Author(s):  
Keyword(s):  
United States ◽  
Family History ◽  
Disease Control ◽  
Febrile Seizures ◽  
The United States ◽  
Increased Risk ◽  
History Of ◽  
Dtp Vaccine

Family history of convulsions is not presently a contraindication to the use of pertussis vaccine.1,2 It was suggested in a recent report that there might be an increased risk of seizures following diphtheria, tetanus, pertussis (DTP) vaccination in individuals who have a "family history of convulsions." Unfortunately, the degree of relatedness was not specified in the questionnaire from which these results were derived.3 A subsequent questionnaire specifying relatedness only to siblings and parents also indicated an increased risk. A family history of convulsions was obtained in 17.3% and 16.7% of children who had febrile and nonfebrile convulsions, respectively, following DTP vaccine as compared with 4.8% in vaccinees who had nonneurologic complications following DTP vaccination (Centers for Disease Control, unpublished data, 1987). The risk of seizures following DTP vaccination is approximately one in 1,750 doses. These are usually febrile seizures.4,5 Follow-up of these patients had indicated that they rarely, if ever, have sequelae.5 Convulsions of this type (DTP vaccination induced) are differentiated from encephalopathy which occurs once in about 1:140,000 doses, one third of which result in permanent sequelae.6 Recent studies have demonstrated that the administration of acetaminophen, 15 mg/kg per dose, at the time of immunization with DTP and four and eight hours later, reduces febrile reactions.7 Although this study was too small to allow determination of the effect on seizures following DTP, it is reasonable to expect that reduction in fever also would decrease the likelihood of febrile seizures following DTP. Local pertussis epidemics in the United States occur in unpredictable fashion.

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